[{"Alternate Allele":"G","Approach":"Splice correction","Cell Line or Animal Model Availability":"","Chromosome":1,"Coding DNA change (c.)":"c.859-506G>C","Comment":"","Confirmed protein or RNA change (for splicing variants)":"Pseudoexon activation;\n\nr.858_859ins[56], p.Phe287Thrfs*32","Contact Information (email)":"rob.collin@radboudumc.nl","Contact Person":"DCRT - Collin Lab","Current Date":"Mon, 22 Apr 2024 00:00:00 GMT","Disease":"ABCA4-related retinopathy","Display in Registry":"Yes","Gene":"ABCA4","Genome Build":"GRCh38","Genomic HGVS":"NC_000001.11:g.94081224C>G","Genomic Position":94081224,"ID":1,"IND available?":"No","Indication ":"Eye","Information on IND":"","Institution":"Nijmegen","Mondo":"MONDO:0800406","Predicted protein change (p.)":"p.?","RefSeq Transcript":"NM_000350.3","Reference Allele":"C","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"https://pubmed.ncbi.nlm.nih.gov/30643219/","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/30643219/","Variant published?":"Yes"},{"Alternate Allele":"C","Approach":"Splice correction","Cell Line or Animal Model Availability":"","Chromosome":1,"Coding DNA change (c.)":"c.6817-713A>G","Comment":"","Confirmed protein or RNA change (for splicing variants)":"Pseudoexon activation;\n\nr.6730_6816ins[6817-835_6817-714], p.Gln2272_Asp2273ins*11","Contact Information (email)":"rob.collin@radboudumc.nl","Contact Person":"DCRT - Collin Lab","Current Date":"Mon, 22 Apr 2024 00:00:00 GMT","Disease":"ABCA4-related retinopathy","Display in Registry":"Yes","Gene":"ABCA4","Genome Build":"GRCh38","Genomic HGVS":"NC_000001.11:g.93993955T>C","Genomic Position":93993955,"ID":2,"IND available?":"No","Indication ":"Eye","Information on IND":"","Institution":"Nijmegen","Mondo":"MONDO:0800406","Predicted protein change (p.)":"p.?","RefSeq Transcript":"NM_000350.3","Reference Allele":"T","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"https://pubmed.ncbi.nlm.nih.gov/38607040/","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/38607040/","Variant published?":"Yes"},{"Alternate Allele":"G","Approach":"Splice correction","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":1,"Coding DNA change (c.)":"c.5461-10T>C","Comment":"","Confirmed protein or RNA change (for splicing variants)":"Exon skipping;\n\nExon 39 (p.Thr1821Aspfs*6);\nExons 39-40 (p.Thr1821Valfs*13)","Contact Information (email)":"Tyuresearch@childrens.harvard.edu","Contact Person":"Yu Lab","Current Date":"Mon, 02 Jun 2025 00:00:00 GMT","Disease":"ABCA4-related retinopathy","Display in Registry":"Yes","Gene":"ABCA4","Genome Build":"GRCh38","Genomic HGVS":"NC_000001.11:g.94011395A>G","Genomic Position":94011395,"ID":3,"IND available?":"No","Indication ":"Eye","Information on IND":"","Institution":"Boston Children's Hospital (Yu Lab)","Mondo":"MONDO:0800406","Predicted protein change (p.)":"p?","RefSeq Transcript":"NM_000350.3","Reference Allele":"A","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/36910710/","Variant published?":"Yes"},{"Alternate Allele":"T","Approach":"Knockdown","Cell Line or Animal Model Availability":"","Chromosome":7,"Coding DNA change (c.)":"c.1027G>A ","Comment":"","Confirmed protein or RNA change (for splicing variants)":"","Contact Information (email)":"dcrt@lumc.nl","Contact Person":"DCRT ","Current Date":"Mon, 15 Apr 2024 00:00:00 GMT","Disease":"Intellectual developmental disorder with severe speech and ambulation defects","Display in Registry":"Yes","Gene":"ACTL6B","Genome Build":"GRCh38","Genomic HGVS":"NC_000007.14:g.100646637C>T","Genomic Position":100646637,"ID":4,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Leiden","Mondo":"MONDO:0032770","Predicted protein change (p.)":"p.Gly343Arg","RefSeq Transcript":"NM_016188.5","Reference Allele":"C","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/31031012/","Variant published?":"Yes"},{"Alternate Allele":"","Approach":"Exon skipping","Cell Line or Animal Model Availability":"No","Chromosome":4,"Coding DNA change (c.)":"Variants within exon 13\n(c.2086_2229)","Comment":"","Confirmed protein or RNA change (for splicing variants)":"","Contact Information (email)":"dcrt@lumc.nl","Contact Person":"DCRT ","Current Date":"Mon, 15 Apr 2024 00:00:00 GMT","Disease":"ANKRD17-related Chopra-Amiel-Gordon syndrome","Display in Registry":"Yes","Gene":"ANKRD17","Genome Build":"GRCh38","Genomic HGVS":"","Genomic Position":"73142385-73142242","ID":5,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Leiden","Mondo":"MONDO:0859186","Predicted protein change (p.)":"","RefSeq Transcript":"NM_032217.5","Reference Allele":"","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"","Variant published?":""},{"Alternate Allele":"","Approach":"","Cell Line or Animal Model Availability":"","Chromosome":7,"Coding DNA change (c.)":"","Comment":"","Confirmed protein or RNA change (for splicing variants)":"","Contact Information (email)":"SickKids Toronto","Contact Person":"SickKids","Current Date":"Sun, 25 May 2025 00:00:00 GMT","Disease":"AP-4 deficiency syndrome","Display in Registry":"Yes","Gene":"AP4M1","Genome Build":"GRCh38","Genomic HGVS":"","Genomic Position":"100101715-100106882","ID":6,"IND available?":"Yes","Indication ":"Brain/Spinal cord","Information on IND":"https://www.elpidatx.com/documents","Institution":"SickKids","Mondo":"MONDO:0100176","Predicted protein change (p.)":"","RefSeq Transcript":"NM_004722.4","Reference Allele":"","Status":"Clinical Application","Therapeutic Modality":"Gene replacement","Therapy Publication":"https://pubmed.ncbi.nlm.nih.gov/38942994/","Variant Publication":"","Variant published?":"Yes"},{"Alternate Allele":"T","Approach":"Splice correction","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":11,"Coding DNA change (c.)":"c.7865C>T","Comment":"","Confirmed protein or RNA change (for splicing variants)":"Partial exon deletion;\n\nr.7864_7929del, p.Ala2622Lysfs*3","Contact Information (email)":"Tyuresearch@childrens.harvard.edu","Contact Person":"Yu Lab","Current Date":"Mon, 02 Jun 2025 00:00:00 GMT","Disease":"Ataxia telangiectasia","Display in Registry":"Yes","Gene":"ATM","Genome Build":"GRCh38","Genomic HGVS":"NC_000011.10:g.108332838C>T","Genomic Position":108332838,"ID":1,"IND available?":"Yes","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Boston Children's Hospital (Yu Lab)","Mondo":"MONDO:0008840","Predicted protein change (p.)":"p.Ala2622Val","RefSeq Transcript":"NM_000051.4","Reference Allele":"C","Status":"Clinical Application","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"https://pubmed.ncbi.nlm.nih.gov/37438524/","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/10330348/","Variant published?":"Yes"},{"Alternate Allele":"G","Approach":"Splice correction","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":11,"Coding DNA change (c.)":"c.5763-1050A>G","Comment":"","Confirmed protein or RNA change (for splicing variants)":"Pseudoexon activation;\n\nr.5762_5763ins[137]","Contact Information (email)":"Tyuresearch@childrens.harvard.edu","Contact Person":"Yu Lab","Current Date":"Mon, 02 Jun 2025 00:00:00 GMT","Disease":"Ataxia telangiectasia","Display in Registry":"Yes","Gene":"ATM","Genome Build":"GRCh38","Genomic HGVS":"NC_000011.10:g.108309110A>G","Genomic Position":108309110,"ID":2,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Boston Children's Hospital (Yu Lab)","Mondo":"MONDO:0008840","Predicted protein change (p.)":"p.?","RefSeq Transcript":"NM_000051.4","Reference Allele":"A","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/8755918/","Variant published?":"Yes"},{"Alternate Allele":"G","Approach":"Splice correction","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":11,"Coding DNA change (c.)":"c.2839-579_2839-576del","Comment":"","Confirmed protein or RNA change (for splicing variants)":"Pseudoexon activation;\n\nr.2839-579_2839-576delins2839-593_2839-525","Contact Information (email)":"matthis.synofzik@uni-tuebingen.de","Contact Person":"Synofzik Lab","Current Date":"Wed, 03 Apr 2024 00:00:00 GMT","Disease":"Ataxia telangiectasia","Display in Registry":"Yes","Gene":"ATM","Genome Build":"GRCh38","Genomic HGVS":"NC_000011.10:g.108270485_108270488del","Genomic Position":108270482,"ID":3,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Tuebingen","Mondo":"MONDO:0008840","Predicted protein change (p.)":"p.?","RefSeq Transcript":"NM_000051.4","Reference Allele":"GGTAA","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/11889466/","Variant published?":"Yes"},{"Alternate Allele":"G","Approach":"Splice correction","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":11,"Coding DNA change (c.)":"c.2639-384A>G","Comment":"","Confirmed protein or RNA change (for splicing variants)":"Pseudoexon activation;\n\nr.2638_2639ins[2639-442_2639-385], p.Gly880Glufs*14","Contact Information (email)":"matthis.synofzik@uni-tuebingen.de","Contact Person":"Synofzik Lab","Current Date":"Wed, 03 Apr 2024 00:00:00 GMT","Disease":"Ataxia telangiectasia","Display in Registry":"Yes","Gene":"ATM","Genome Build":"GRCh38","Genomic HGVS":"NC_000011.10:g.108268026A>G","Genomic Position":108268026,"ID":4,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Tuebingen","Mondo":"MONDO:0008840","Predicted protein change (p.)":"p.?","RefSeq Transcript":"NM_000051.4","Reference Allele":"A","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/34453918/","Variant published?":"Yes"},{"Alternate Allele":"G","Approach":"Splice correction","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":11,"Coding DNA change (c.)":"c.967A>G","Comment":"","Confirmed protein or RNA change (for splicing variants)":"Partial and partial + full exon deletions;\n\nr.967_1235del, p.Ile323Alafs*17\nr.967_1065del, p.Ile323_Gln355del","Contact Information (email)":"matthis.synofzik@uni-tuebingen.de","Contact Person":"Synofzik Lab","Current Date":"Wed, 03 Apr 2024 00:00:00 GMT","Disease":"Ataxia telangiectasia","Display in Registry":"Yes","Gene":"ATM","Genome Build":"GRCh38","Genomic HGVS":"NC_000011.10:g.108247029A>G","Genomic Position":108247029,"ID":5,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Tuebingen","Mondo":"MONDO:0008840","Predicted protein change (p.)":"p.Ile323Val","RefSeq Transcript":"NM_000051.4","Reference Allele":"A","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/31050087/","Variant published?":"Yes"},{"Alternate Allele":"T","Approach":"Splice correction","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":11,"Coding DNA change (c.)":"c.743G>T\n","Comment":"","Confirmed protein or RNA change (for splicing variants)":"r.?","Contact Information (email)":"matthis.synofzik@uni-tuebingen.de","Contact Person":"Synofzik Lab","Current Date":"Wed, 03 Apr 2024 00:00:00 GMT","Disease":"Ataxia telangiectasia","Display in Registry":"Yes","Gene":"ATM","Genome Build":"GRCh38","Genomic HGVS":"NC_000011.10:g.108244868G>T","Genomic Position":108244868,"ID":6,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Tuebingen","Mondo":"MONDO:0008840","Predicted protein change (p.)":"p.Arg248Leu","RefSeq Transcript":"NM_000051.4","Reference Allele":"G","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/24120321/","Variant published?":"Yes"},{"Alternate Allele":"G","Approach":"Splice correction","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":11,"Coding DNA change (c.)":"c.8565T>G","Comment":"","Confirmed protein or RNA change (for splicing variants)":"r.?","Contact Information (email)":"matthis.synofzik@uni-tuebingen.de","Contact Person":"Synofzik Lab","Current Date":"Wed, 03 Apr 2024 00:00:00 GMT","Disease":"Ataxia telangiectasia","Display in Registry":"Yes","Gene":"ATM","Genome Build":"GRCh38","Genomic HGVS":"NC_000011.10:g.108345889T>G","Genomic Position":108345889,"ID":7,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Tuebingen","Mondo":"MONDO:0008840","Predicted protein change (p.)":"p.Ser2855Arg","RefSeq Transcript":"NM_000051.4","Reference Allele":"T","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"","Variant published?":"Yes"},{"Alternate Allele":"A","Approach":"Exon inclusion","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":11,"Coding DNA change (c.)":"c.2250G>A\n","Comment":"Note: the Yu lab also has some work and cell lines for this variant","Confirmed protein or RNA change (for splicing variants)":"r.2125_2250del, p.Ile709_Lys750del","Contact Information (email)":"matthis.synofzik@uni-tuebingen.de","Contact Person":"Synofzik Lab","Current Date":"Wed, 03 Apr 2024 00:00:00 GMT","Disease":"Ataxia telangiectasia","Display in Registry":"Yes","Gene":"ATM","Genome Build":"GRCh38","Genomic HGVS":"NC_000011.10:g.108256340G>A","Genomic Position":108256340,"ID":8,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Tuebingen","Mondo":"MONDO:0008840","Predicted protein change (p.)":"p.Lys750=","RefSeq Transcript":"NM_000051.4","Reference Allele":"G","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/9887333/","Variant published?":"Yes"},{"Alternate Allele":"A","Approach":"Exon inclusion","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":11,"Coding DNA change (c.)":"c.2376G>A","Comment":"","Confirmed protein or RNA change (for splicing variants)":"r.2251_2376del, p.Ser751_Lys792del","Contact Information (email)":"matthis.synofzik@uni-tuebingen.de","Contact Person":"Synofzik Lab","Current Date":"Wed, 03 Apr 2024 00:00:00 GMT","Disease":"Ataxia telangiectasia","Display in Registry":"Yes","Gene":"ATM","Genome Build":"GRCh38","Genomic HGVS":"NC_000011.10:g.108257606G>A","Genomic Position":108257606,"ID":9,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Tuebingen","Mondo":"MONDO:0008840","Predicted protein change (p.)":"p.Lys792=","RefSeq Transcript":"NM_000051.4","Reference Allele":"G","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/9792409/","Variant published?":"Yes"},{"Alternate Allele":"A","Approach":"Exon inclusion","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":11,"Coding DNA change (c.)":"c.3576G>A\n","Comment":"","Confirmed protein or RNA change (for splicing variants)":"r.3403_3576del, p.Ser1135_Lys1192del","Contact Information (email)":"matthis.synofzik@uni-tuebingen.de","Contact Person":"Synofzik Lab","Current Date":"Wed, 03 Apr 2024 00:00:00 GMT","Disease":"Ataxia telangiectasia","Display in Registry":"Yes","Gene":"ATM","Genome Build":"GRCh38","Genomic HGVS":"NC_000011.10:g.108281168G>A","Genomic Position":108281168,"ID":10,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Tuebingen","Mondo":"MONDO:0008840","Predicted protein change (p.)":"p.Lys1192=","RefSeq Transcript":"NM_000051.4","Reference Allele":"G","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/9887333/","Variant published?":"Yes"},{"Alternate Allele":"A","Approach":"Exon inclusion","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":11,"Coding DNA change (c.)":"c.7788G>A\n","Comment":"","Confirmed protein or RNA change (for splicing variants)":"r.7630_7788del, p.Leu2544_Glu2596del","Contact Information (email)":"matthis.synofzik@uni-tuebingen.de","Contact Person":"Synofzik Lab","Current Date":"Wed, 03 Apr 2024 00:00:00 GMT","Disease":"Ataxia telangiectasia","Display in Registry":"Yes","Gene":"ATM","Genome Build":"GRCh38","Genomic HGVS":"NC_000011.10:g.108332037G>A","Genomic Position":108332037,"ID":11,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Tuebingen","Mondo":"MONDO:0008840","Predicted protein change (p.)":"p.Glu2596=","RefSeq Transcript":"NM_000051.4","Reference Allele":"G","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/9792409/","Variant published?":"Yes"},{"Alternate Allele":"C","Approach":"Exon skipping","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":11,"Coding DNA change (c.)":"c.1564_1565del","Comment":"","Confirmed protein or RNA change (for splicing variants)":"","Contact Information (email)":"matthis.synofzik@uni-tuebingen.de","Contact Person":"Synofzik Lab","Current Date":"Fri, 20 Jun 2025 00:00:00 GMT","Disease":"Ataxia telangiectasia","Display in Registry":"Yes","Gene":"ATM","Genome Build":"GRCh38","Genomic HGVS":"NC_000011.10:g.108251029_108251030del","Genomic Position":108251025,"ID":12,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Tuebingen","Mondo":"MONDO:0008840","Predicted protein change (p.)":"p.Glu522Ilefs*43","RefSeq Transcript":"NM_000051.4","Reference Allele":"CAG","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/39067332/","Variant published?":"Yes"},{"Alternate Allele":"T","Approach":"Knockdown","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":19,"Coding DNA change (c.)":"c.2443G>A","Comment":"","Confirmed protein or RNA change (for splicing variants)":"","Contact Information (email)":"Tyuresearch@childrens.harvard.edu","Contact Person":"Yu Lab","Current Date":"Mon, 02 Jun 2025 00:00:00 GMT","Disease":"ATP1A3-related neurological disorder","Display in Registry":"Yes","Gene":"ATP1A3","Genome Build":"GRCh38","Genomic HGVS":"NC_000019.10:g.41970284C>T","Genomic Position":41970284,"ID":13,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Boston Children's Hospital (Yu Lab)","Mondo":"MONDO:0700002","Predicted protein change (p.)":"p.Glu815Lys","RefSeq Transcript":"NM_152296.5","Reference Allele":"C","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/22842232/","Variant published?":"Yes"},{"Alternate Allele":"","Approach":"Knockdown","Cell Line or Animal Model Availability":"","Chromosome":"","Coding DNA change (c.)":"","Comment":"C9orf72-targeting ASOs have failed in clinical trials to this date (May 2025).","Confirmed protein or RNA change (for splicing variants)":"","Contact Information (email)":"jonathan.watts@umassmed.edu","Contact Person":"Jon Watts","Current Date":"Sun, 25 May 2025 00:00:00 GMT","Disease":"C9orf72-related frontotemporal dementia and/or amyotrophic lateral sclerosis","Display in Registry":"Yes","Gene":"C9orf72","Genome Build":"GRCh38","Genomic HGVS":"","Genomic Position":"","ID":14,"IND available?":"Unknown","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"UMass Chan","Mondo":"MONDO:0007105","Predicted protein change (p.)":"","RefSeq Transcript":"","Reference Allele":"","Status":"Clinical Application","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"https://pubmed.ncbi.nlm.nih.gov/34949835/","Variant Publication":"","Variant published?":"Unknown"},{"Alternate Allele":"TC","Approach":"Exon skipping","Cell Line or Animal Model Availability":"","Chromosome":16,"Coding DNA change (c.)":"c.569dup","Comment":"","Confirmed protein or RNA change (for splicing variants)":"","Contact Information (email)":"hastingm@umich.edu","Contact Person":"Michelle Hastings","Current Date":"Sun, 25 May 2025 00:00:00 GMT","Disease":"CLN3-related neuronal ceroid lipofuscinosis","Display in Registry":"Yes","Gene":"CLN3","Genome Build":"GRCh38","Genomic HGVS":"NC_000016.10:g.28486459dup","Genomic Position":28486454,"ID":15,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"University of North Carolina Chapel Hill, University of Michigan, ForeBatten Foundation","Mondo":"MONDO:0008767","Predicted protein change (p.)":"p.Ala191Serfs*45 ","RefSeq Transcript":"NM_001042432.2","Reference Allele":"T","Status":"Clinical Application","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"https://www.forebatten.org/zebronkysen","Variant Publication":"","Variant published?":"Yes"},{"Alternate Allele":"T","Approach":"Splice correction","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":21,"Coding DNA change (c.)":"c.930+189C>T","Comment":"","Confirmed protein or RNA change (for splicing variants)":"Pseudoexon activation;\n\nr.930_931ins[930+116_930+187],\np.Lys310_Gly311insX[24]","Contact Information (email)":"haiyan.zhou@ucl.ac.uk","Contact Person":"UPNAT - Zhou Lab","Current Date":"Tue, 16 Jul 2024 00:00:00 GMT","Disease":"Collagen 6-related myopathy","Display in Registry":"Yes","Gene":"COL6A1","Genome Build":"GRCh38","Genomic HGVS":"NC_000021.9:g.45989967C>T","Genomic Position":45989967,"ID":16,"IND available?":"No","Indication ":"Muscular","Information on IND":"","Institution":"UCL","Mondo":"MONDO:0100225","Predicted protein change (p.)":"p.?","RefSeq Transcript":"NM_001848.3","Reference Allele":"C","Status":"Developed","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"https://pubmed.ncbi.nlm.nih.gov/32585628/","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/30895940/","Variant published?":"Yes"},{"Alternate Allele":"T","Approach":"Knockdown","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":2,"Coding DNA change (c.)":"c.6210+1G>A","Comment":"","Confirmed protein or RNA change (for splicing variants)":"Exon skipping;\n\nr.6157_6210del, p.Ile2054_Gly2071del","Contact Information (email)":"haiyan.zhou@ucl.ac.uk","Contact Person":"UPNAT - Zhou Lab","Current Date":"Tue, 16 Jul 2024 00:00:00 GMT","Disease":"Collagen 6-related myopathy","Display in Registry":"Yes","Gene":"COL6A3","Genome Build":"GRCh38","Genomic HGVS":"NC_000002.12:g.237361120C>T","Genomic Position":237361120,"ID":17,"IND available?":"No","Indication ":"Muscular","Information on IND":"","Institution":"UCL","Mondo":"MONDO:0100225","Predicted protein change (p.)":"p.?","RefSeq Transcript":"NM_004369.4","Reference Allele":"C","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"https://pubmed.ncbi.nlm.nih.gov/38993932/","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/18366090/","Variant published?":"Yes"},{"Alternate Allele":"T","Approach":"Knockdown","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":2,"Coding DNA change (c.)":"c.6135_6152del","Comment":"","Confirmed protein or RNA change (for splicing variants)":"","Contact Information (email)":"haiyan.zhou@ucl.ac.uk","Contact Person":"UPNAT - Zhou Lab","Current Date":"Tue, 16 Jul 2024 00:00:00 GMT","Disease":"Collagen 6-related myopathy","Display in Registry":"Yes","Gene":"COL6A3","Genome Build":"GRCh38","Genomic HGVS":"NC_000002.12:g.237361749_237361766del","Genomic Position":237361742,"ID":18,"IND available?":"No","Indication ":"Muscular","Information on IND":"","Institution":"UCL","Mondo":"MONDO:0100225","Predicted protein change (p.)":"p.Ile2046_Pro2051del","RefSeq Transcript":"NM_004369.4","Reference Allele":"TGGCCCGATGCTGCCGATG","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"https://pubmed.ncbi.nlm.nih.gov/28918041/","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/28918041/","Variant published?":"Yes"},{"Alternate Allele":"T","Approach":"Exon skipping","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":3,"Coding DNA change (c.)":"c.6805G>A","Comment":"","Confirmed protein or RNA change (for splicing variants)":"","Contact Information (email)":"kristin.ham@murdoch.edu.au","Contact Person":"May Aung-Htut & Steve Wilton, Kristin Ham","Current Date":"Mon, 07 Jul 2025 00:00:00 GMT","Disease":"COL7A1-related recessive dystrophic epidermolysis bullosa","Display in Registry":"Yes","Gene":"COL7A1","Genome Build":"GRCh38","Genomic HGVS":"NC_000003.12:g.48572888C>T","Genomic Position":48572888,"ID":19,"IND available?":"No","Indication ":"Skin","Information on IND":"","Institution":"Personalised Medicine Centre, Murdoch University","Mondo":"MONDO:0009179","Predicted protein change (p.)":"p.Gly2269Arg","RefSeq Transcript":"NM_000094.4","Reference Allele":"C","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"","Variant published?":"No"},{"Alternate Allele":"A","Approach":"Exon skipping","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":3,"Coding DNA change (c.)":"c.2005C>T","Comment":"","Confirmed protein or RNA change (for splicing variants)":"","Contact Information (email)":"kristin.ham@murdoch.edu.au","Contact Person":"May Aung-Htut & Steve Wilton, Kristin Ham","Current Date":"Mon, 08 Sep 2025 00:00:00 GMT","Disease":"COL7A1-related recessive dystrophic epidermolysis bullosa","Display in Registry":"Yes","Gene":"COL7A1","Genome Build":"GRCh38","Genomic HGVS":"NC_000003.12:g.48590258G>A","Genomic Position":48590258,"ID":20,"IND available?":"No","Indication ":"Skin","Information on IND":"","Institution":"Personalised Medicine Centre, Murdoch University","Mondo":"MONDO:0009179","Predicted protein change (p.)":"p.Arg669*","RefSeq Transcript":"NM_000094.4","Reference Allele":"G","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/26076072/","Variant published?":"Yes"},{"Alternate Allele":"A","Approach":"Exon skipping","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":3,"Coding DNA change (c.)":"c.7787del","Comment":"","Confirmed protein or RNA change (for splicing variants)":"","Contact Information (email)":"kristin.ham@murdoch.edu.au","Contact Person":"May Aung-Htut & Steve Wilton, Kristin Ham","Current Date":"Mon, 08 Sep 2025 00:00:00 GMT","Disease":"COL7A1-related recessive dystrophic epidermolysis bullosa","Display in Registry":"Yes","Gene":"COL7A1","Genome Build":"GRCh38","Genomic HGVS":"NC_000003.12:g.48568507del","Genomic Position":48568505,"ID":21,"IND available?":"No","Indication ":"Skin","Information on IND":"","Institution":"Personalised Medicine Centre, Murdoch University","Mondo":"MONDO:0009179","Predicted protein change (p.)":"p.Gly2596Valfs*35","RefSeq Transcript":"NM_000094.4","Reference Allele":"AC","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/24213372/","Variant published?":"Yes"},{"Alternate Allele":"T","Approach":"","Cell Line or Animal Model Availability":"","Chromosome":2,"Coding DNA change (c.)":"c.1003C>T","Comment":"","Confirmed protein or RNA change (for splicing variants)":"","Contact Information (email)":"ahrensnicklasr@chop.edu","Contact Person":"Rebecca Ahrens-Nicklas","Current Date":"Sun, 25 May 2025 00:00:00 GMT","Disease":"Carbamoyl phosphate synthetase I deficiency disease","Display in Registry":"Yes","Gene":"CPS1","Genome Build":"GRCh38","Genomic HGVS":"NC_000002.12:g.210591886C>T","Genomic Position":210591886,"ID":22,"IND available?":"Unknown","Indication ":"Liver","Information on IND":"","Institution":"Children\u2019s Hospital of Philadelphia","Mondo":"MONDO:0009376","Predicted protein change (p.)":"p.Gln335*","RefSeq Transcript":"NM_001875.5","Reference Allele":"C","Status":"Clinical Application","Therapeutic Modality":"Gene editing","Therapy Publication":"https://www.nejm.org/doi/full/10.1056/NEJMoa2504747","Variant Publication":"","Variant published?":"Yes"},{"Alternate Allele":"G","Approach":"Knockdown (allele-selective)","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":20,"Coding DNA change (c.)":"c.344T>G","Comment":"","Confirmed protein or RNA change (for splicing variants)":"","Contact Information (email)":"Tyuresearch@childrens.harvard.edu","Contact Person":"Yu Lab","Current Date":"Mon, 02 Jun 2025 00:00:00 GMT","Disease":"DNAJC5-related neuronal ceroid lipofuscinosis","Display in Registry":"Yes","Gene":"DNAJC5","Genome Build":"GRCh38","Genomic HGVS":"NC_000020.11:g.63930873T>G","Genomic Position":63930873,"ID":23,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Boston Children's Hospital (Yu Lab)","Mondo":"MONDO:0008083","Predicted protein change (p.)":"p.Leu115Arg","RefSeq Transcript":"NM_025219.3","Reference Allele":"T","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/22235333/","Variant published?":"Yes"},{"Alternate Allele":"A","Approach":"Knockdown","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":6,"Coding DNA change (c.)":"c.3229G>T","Comment":"","Confirmed protein or RNA change (for splicing variants)":"","Contact Information (email)":"mj.barrero@isciii.es","Contact Person":"Maria J. Barrero","Current Date":"Tue, 28 Oct 2025 00:00:00 GMT","Disease":"EHMT2-related Kleefstra syndrome","Display in Registry":"Yes","Gene":"EHMT2","Genome Build":"GRCh38","Genomic HGVS":"NC_000006.12:g.31881061C>A","Genomic Position":31881061,"ID":24,"IND available?":"","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Spanish National Institute of Health Carlos III (ISCIII)","Mondo":"MONDO:0012455","Predicted protein change (p.)":"p.Ala1077Ser","RefSeq Transcript":"NM_006709.5","Reference Allele":"C","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://www.biorxiv.org/content/10.1101/2025.09.25.678439v1","Variant published?":"Preprint"},{"Alternate Allele":"T","Approach":"Knockdown","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":11,"Coding DNA change (c.)":"c.1438C>T ","Comment":"","Confirmed protein or RNA change (for splicing variants)":"","Contact Information (email)":"dcrt@lumc.nl","Contact Person":"DCRT ","Current Date":"Sat, 21 Dec 2024 00:00:00 GMT","Disease":"FAR1-related fatty acyl-CoA reductase 1 upregulation","Display in Registry":"Yes","Gene":"FAR1","Genome Build":"GRCh38","Genomic HGVS":"NC_000011.10:g.13728664C>T","Genomic Position":13728664,"ID":25,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Leiden","Mondo":"MONDO:0100230","Predicted protein change (p.)":"p.Arg480Cys","RefSeq Transcript":"NM_032228.6","Reference Allele":"C","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/33239752/","Variant published?":"Yes"},{"Alternate Allele":"A","Approach":"Knockdown","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":11,"Coding DNA change (c.)":"c.1439G>A ","Comment":"","Confirmed protein or RNA change (for splicing variants)":"","Contact Information (email)":"dcrt@lumc.nl","Contact Person":"DCRT ","Current Date":"Sat, 21 Dec 2024 00:00:00 GMT","Disease":"FAR1-related fatty acyl-CoA reductase 1 upregulation","Display in Registry":"Yes","Gene":"FAR1","Genome Build":"GRCh38","Genomic HGVS":"NC_000011.10:g.13728665G>A","Genomic Position":13728665,"ID":26,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Leiden","Mondo":"MONDO:0100230","Predicted protein change (p.)":"p.Arg480His","RefSeq Transcript":"NM_032228.6","Reference Allele":"G","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/33239752/","Variant published?":"Yes"},{"Alternate Allele":"T","Approach":"Knockdown","Cell Line or Animal Model Availability":"","Chromosome":16,"Coding DNA change (c.)":"c.1574C>T","Comment":"","Confirmed protein or RNA change (for splicing variants)":"","Contact Information (email)":"ns327@cumc.columbia.edu","Contact Person":"Neil Shneider","Current Date":"Sun, 25 May 2025 00:00:00 GMT","Disease":"FUS-related amyotrophic lateral sclerosis","Display in Registry":"Yes","Gene":"FUS","Genome Build":"GRCh38","Genomic HGVS":"NC_000016.10:g.31191431C>T","Genomic Position":31191431,"ID":27,"IND available?":"Unknown","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Columbia & Ionis","Mondo":"MONDO:0011951","Predicted protein change (p.)":"p.Pro525Leu","RefSeq Transcript":"NM_004960.4","Reference Allele":"C","Status":"Clinical Application","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(25)00513-6/fulltext","Variant Publication":"","Variant published?":"Yes"},{"Alternate Allele":"T","Approach":"Knockdown","Cell Line or Animal Model Availability":"","Chromosome":16,"Coding DNA change (c.)":"c.1562G>T","Comment":"","Confirmed protein or RNA change (for splicing variants)":"","Contact Information (email)":"ns327@cumc.columbia.edu","Contact Person":"Neil Shneider","Current Date":"Sun, 25 May 2025 00:00:00 GMT","Disease":"FUS-related amyotrophic lateral sclerosis","Display in Registry":"Yes","Gene":"FUS","Genome Build":"GRCh38","Genomic HGVS":"NC_000016.10:g.31191419G>T","Genomic Position":31191419,"ID":28,"IND available?":"Unknown","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Columbia & Ionis","Mondo":"MONDO:0011951","Predicted protein change (p.)":"p.Arg521Leu","RefSeq Transcript":"NM_004960.4","Reference Allele":"G","Status":"Clinical Application","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(25)00513-6/fulltext","Variant Publication":"https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(25)00513-6/fulltext","Variant published?":"Yes"},{"Alternate Allele":"GTGA","Approach":"Knockdown","Cell Line or Animal Model Availability":"","Chromosome":16,"Coding DNA change (c.)":"c.1545_1547dup","Comment":"","Confirmed protein or RNA change (for splicing variants)":"","Contact Information (email)":"ns327@cumc.columbia.edu","Contact Person":"Neil Shneider","Current Date":"Sun, 25 May 2025 00:00:00 GMT","Disease":"FUS-related amyotrophic lateral sclerosis","Display in Registry":"Yes","Gene":"FUS","Genome Build":"GRCh38","Genomic HGVS":"NC_000016.10:g.31191402_31191404dup","Genomic Position":31191401,"ID":29,"IND available?":"Unknown","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Columbia & Ionis","Mondo":"MONDO:0011951","Predicted protein change (p.)":"p.Gly515_Glu516insAsp","RefSeq Transcript":"NM_004960.4","Reference Allele":"G","Status":"Clinical Application","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(25)00513-6/fulltext","Variant Publication":"https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(25)00513-6/fulltext","Variant published?":"Yes"},{"Alternate Allele":"A","Approach":"Knockdown","Cell Line or Animal Model Availability":"","Chromosome":16,"Coding DNA change (c.)":"c.571G>A","Comment":"","Confirmed protein or RNA change (for splicing variants)":"","Contact Information (email)":"ns327@cumc.columbia.edu","Contact Person":"Neil Shneider","Current Date":"Sun, 25 May 2025 00:00:00 GMT","Disease":"FUS-related amyotrophic lateral sclerosis","Display in Registry":"Yes","Gene":"FUS","Genome Build":"GRCh38","Genomic HGVS":"NC_000016.10:g.31184986G>A","Genomic Position":31184986,"ID":30,"IND available?":"Unknown","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Columbia & Ionis","Mondo":"MONDO:0011951","Predicted protein change (p.)":"p.Gly191Ser","RefSeq Transcript":"NM_004960.4","Reference Allele":"G","Status":"Clinical Application","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(25)00513-6/fulltext","Variant Publication":"https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(25)00513-6/fulltext","Variant published?":"Yes"},{"Alternate Allele":"G","Approach":"Knockdown","Cell Line or Animal Model Availability":"","Chromosome":16,"Coding DNA change (c.)":"c.1561C>G","Comment":"","Confirmed protein or RNA change (for splicing variants)":"","Contact Information (email)":"ns327@cumc.columbia.edu","Contact Person":"Neil Shneider","Current Date":"Sun, 25 May 2025 00:00:00 GMT","Disease":"FUS-related amyotrophic lateral sclerosis","Display in Registry":"Yes","Gene":"FUS","Genome Build":"GRCh38","Genomic HGVS":"NC_000016.10:g.31191418C>G","Genomic Position":31191418,"ID":31,"IND available?":"Unknown","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Columbia & Ionis","Mondo":"MONDO:0011951","Predicted protein change (p.)":"p.Arg521Gly","RefSeq Transcript":"NM_004960.4","Reference Allele":"C","Status":"Clinical Application","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(25)00513-6/fulltext","Variant Publication":"https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(25)00513-6/fulltext","Variant published?":"Yes"},{"Alternate Allele":"AAA","Approach":"Knockdown (allele-selective)","Cell Line or Animal Model Availability":"Yes, both","Chromosome":16,"Coding DNA change (c.)":"c.736_738delinsAAA","Comment":"","Confirmed protein or RNA change (for splicing variants)":"","Contact Information (email)":"nofar.mor@sheba.health.gov.il","Contact Person":"Nofar Mor","Current Date":"Fri, 07 Nov 2025 00:00:00 GMT","Disease":"GNAO1-related neurodevelopmental disorder with involuntary movements","Display in Registry":"Yes","Gene":"GNAO1","Genome Build":"GRCh38","Genomic HGVS":"NC_000016.10:g.56351396_56351398delinsAAA","Genomic Position":56351396,"ID":32,"IND available?":"","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Sheba Medical Center","Mondo":"MONDO:0060491","Predicted protein change (p.)":"p.Glu246Lys","RefSeq Transcript":"NM_020988.3","Reference Allele":"GAG","Status":"Clinical Application","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"https://pubmed.ncbi.nlm.nih.gov/39897576/","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/39897576/","Variant published?":"Yes"},{"Alternate Allele":"G","Approach":"Other","Cell Line or Animal Model Availability":"Yes, mouse model","Chromosome":1,"Coding DNA change (c.)":"c.239T>C","Comment":"Approach is a combination of gene addition and miRNA-based gene silencing","Confirmed protein or RNA change (for splicing variants)":"","Contact Information (email)":"president@gnb1advocacy.org","Contact Person":"Stephanie Normand","Current Date":"Thu, 26 Mar 2026 00:00:00 GMT","Disease":"GNB1-related intellectual disability ","Display in Registry":"Yes","Gene":"GNB1","Genome Build":"GRCh38","Genomic HGVS":"NC_000001.11:g.1806503A>G","Genomic Position":1806503,"ID":33,"IND available?":"","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"GNB1 Advocacy Group","Mondo":"MONDO:0014855","Predicted protein change (p.)":"p.Ile80Thr","RefSeq Transcript":"NM_002074.5","Reference Allele":"A","Status":"Under Development","Therapeutic Modality":"Other","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/27108799/","Variant published?":"Yes"},{"Alternate Allele":"C","Approach":"Other","Cell Line or Animal Model Availability":"Yes, mouse model","Chromosome":1,"Coding DNA change (c.)":"c.233A>G","Comment":"Approach is a combination of gene addition and miRNA-based gene silencing","Confirmed protein or RNA change (for splicing variants)":"","Contact Information (email)":"president@gnb1advocacy.org","Contact Person":"Stephanie Normand","Current Date":"Thu, 26 Mar 2026 00:00:00 GMT","Disease":"GNB1-related intellectual disability ","Display in Registry":"Yes","Gene":"GNB1","Genome Build":"GRCh38","Genomic HGVS":"NC_000001.11:g.1806509T>C","Genomic Position":1806509,"ID":34,"IND available?":"","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"GNB1 Advocacy Group","Mondo":"MONDO:0014855","Predicted protein change (p.)":"p.Lys78Arg","RefSeq Transcript":"NM_002074.5","Reference Allele":"T","Status":"Under Development","Therapeutic Modality":"Other","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/27108799/","Variant published?":"Yes"},{"Alternate Allele":"","Approach":"Knockdown","Cell Line or Animal Model Availability":"Yes, mouse model","Chromosome":"","Coding DNA change (c.)":"","Comment":"","Confirmed protein or RNA change (for splicing variants)":"","Contact Information (email)":"matias.wagner@mri.tum.de","Contact Person":"Matias Wagner","Current Date":"Tue, 12 May 2026 00:00:00 GMT","Disease":"GRIN1-related neurodevelopmental disorder with or without hyperkinetic movements and seizures","Display in Registry":"Yes","Gene":"GRIN1","Genome Build":"GRCh38","Genomic HGVS":"","Genomic Position":"","ID":70,"IND available?":"","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Institute of Human Genetics, Technical University Munich","Mondo":"MONDO:0013655","Predicted protein change (p.)":"","RefSeq Transcript":"","Reference Allele":"","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"","Variant published?":""},{"Alternate Allele":"C","Approach":"Knockdown","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":20,"Coding DNA change (c.)":"c.683A>G","Comment":"","Confirmed protein or RNA change (for splicing variants)":"","Contact Information (email)":"Tyuresearch@childrens.harvard.edu","Contact Person":"Yu Lab","Current Date":"Mon, 02 Jun 2025 00:00:00 GMT","Disease":"KCNQ2-related developmental and epileptic encephalopathy","Display in Registry":"Yes","Gene":"KCNQ2","Genome Build":"GRCh38","Genomic HGVS":"NC_000020.11:g.63444666T>C","Genomic Position":63444666,"ID":71,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Boston Children's Hospital (Yu Lab)","Mondo":"MONDO:0013387","Predicted protein change (p.)":"p.His228Arg","RefSeq Transcript":"NM_172107.4","Reference Allele":"T","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/31951342/","Variant published?":"Yes"},{"Alternate Allele":"A","Approach":"Knockdown","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":20,"Coding DNA change (c.)":"c.601C>T","Comment":"","Confirmed protein or RNA change (for splicing variants)":"","Contact Information (email)":"marcus.kaji@uantwerpen.be; sarah.weckhuysen@uantwerpen.be","Contact Person":"Marcus Kaji","Current Date":"Tue, 12 May 2026 00:00:00 GMT","Disease":"KCNQ2-related developmental and epileptic encephalopathy","Display in Registry":"Yes","Gene":"KCNQ2","Genome Build":"GRCh38","Genomic HGVS":"NC_000020.11:g.63444748G>A","Genomic Position":63444748,"ID":67,"IND available?":"","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"VIB - Center for Molecular Neurology (Weckhuysen Lab)","Mondo":"MONDO:0013387","Predicted protein change (p.)":"p.Arg201Cys","RefSeq Transcript":"NM_172107.4","Reference Allele":"G","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/25740509/","Variant published?":"Yes"},{"Alternate Allele":"T","Approach":"Knockdown","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":20,"Coding DNA change (c.)":"c.602G>A","Comment":"","Confirmed protein or RNA change (for splicing variants)":"","Contact Information (email)":"marcus.kaji@uantwerpen.be; sarah.weckhuysen@uantwerpen.be","Contact Person":"Marcus Kaji","Current Date":"Tue, 12 May 2026 00:00:00 GMT","Disease":"KCNQ2-related developmental and epileptic encephalopathy","Display in Registry":"Yes","Gene":"KCNQ2","Genome Build":"GRCh38","Genomic HGVS":"NC_000020.11:g.63444747C>T","Genomic Position":63444747,"ID":68,"IND available?":"","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"VIB - Center for Molecular Neurology (Weckhuysen Lab)","Mondo":"MONDO:0013387","Predicted protein change (p.)":"p.Arg201His","RefSeq Transcript":"NM_172107.4","Reference Allele":"C","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/25740509/","Variant published?":"Yes"},{"Alternate Allele":"T","Approach":"Knockdown","Cell Line or Animal Model Availability":"No","Chromosome":20,"Coding DNA change (c.)":"c.715G>A","Comment":"","Confirmed protein or RNA change (for splicing variants)":"","Contact Information (email)":"marcus.kaji@uantwerpen.be; sarah.weckhuysen@uantwerpen.be","Contact Person":"Marcus Kaji","Current Date":"Tue, 12 May 2026 00:00:00 GMT","Disease":"KCNQ2-related developmental and epileptic encephalopathy","Display in Registry":"Yes","Gene":"KCNQ2","Genome Build":"GRCh38","Genomic HGVS":"NC_000020.11:g.63442507C>T","Genomic Position":63442507,"ID":69,"IND available?":"","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"VIB - Center for Molecular Neurology (Weckhuysen Lab)","Mondo":"MONDO:0013387","Predicted protein change (p.)":"p.Gly239Ser","RefSeq Transcript":"NM_172107.4","Reference Allele":"C","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/38241158/","Variant published?":"Yes"},{"Alternate Allele":"A","Approach":"Knockdown","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":9,"Coding DNA change (c.)":"c.1421G>A","Comment":"ASO has shown adverse events in clinical application. Please reach out to the developers for more information.","Confirmed protein or RNA change (for splicing variants)":"","Contact Information (email)":"Tyuresearch@childrens.harvard.edu","Contact Person":"Yu Lab","Current Date":"Mon, 02 Jun 2025 00:00:00 GMT","Disease":"KCNT1-related childhood-onset epilepsy syndrome","Display in Registry":"Yes","Gene":"KCNT1","Genome Build":"GRCh38","Genomic HGVS":"NC_000009.12:g.135768848G>A","Genomic Position":135768848,"ID":70,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Boston Children's Hospital (Yu Lab)","Mondo":"MONDO:0020072","Predicted protein change (p.)":"p.Arg474His","RefSeq Transcript":"NM_020822.3","Reference Allele":"G","Status":"Clinical Application","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"https://pubmed.ncbi.nlm.nih.gov/41981306/","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/23086397/","Variant published?":"Yes"},{"Alternate Allele":"T","Approach":"","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":1,"Coding DNA change (c.)":"c.1824C>T","Comment":"2 models are available:  G608G and G609G ","Confirmed protein or RNA change (for splicing variants)":"Partial exon deletion;\nr.1819_1968del, p.Val607_Gln656del","Contact Information (email)":"bnatke@progeriaresearch.org","Contact Person":"Barbara Natke","Current Date":"Mon, 07 Jul 2025 00:00:00 GMT","Disease":"LMNA-related cardiocutaneous progeria syndrome","Display in Registry":"Yes","Gene":"LMNA","Genome Build":"GRCh38","Genomic HGVS":"NC_000001.11:g.156138613C>T","Genomic Position":156138613,"ID":71,"IND available?":"","Indication ":"","Information on IND":"","Institution":"The Progeria Research Foundation","Mondo":"MONDO:0018203","Predicted protein change (p.)":"p.Gly608=","RefSeq Transcript":"NM_170707.4","Reference Allele":"C","Status":"Under Development","Therapeutic Modality":"Gene editing","Therapy Publication":"","Variant Publication":"","Variant published?":"Yes"},{"Alternate Allele":"","Approach":"","Cell Line or Animal Model Availability":"Yes, both","Chromosome":2,"Coding DNA change (c.)":"","Comment":"","Confirmed protein or RNA change (for splicing variants)":"","Contact Information (email)":"lauren@rareolive.org","Contact Person":"Lauren Flickinger","Current Date":"Thu, 26 Mar 2026 00:00:00 GMT","Disease":"LNPK-related neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum","Display in Registry":"Yes","Gene":"LNPK","Genome Build":"GRCh38","Genomic HGVS":"","Genomic Position":"175995584-175929967","ID":72,"IND available?":"","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"RareOlive.org","Mondo":"MONDO:0060761","Predicted protein change (p.)":"","RefSeq Transcript":"NM_030650.3","Reference Allele":"","Status":"Under Development","Therapeutic Modality":"Gene replacement","Therapy Publication":"","Variant Publication":"","Variant published?":""},{"Alternate Allele":"C","Approach":"Splice correction","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":"X","Coding DNA change (c.)":"c.378-3C>G","Comment":"Development unsuccessful; project closed","Confirmed protein or RNA change (for splicing variants)":"Intron 3; weakens canonical acceptor splice site and strengthens new acceptor site 1bp upstream of the variant (r.?)","Contact Information (email)":"Tyuresearch@childrens.harvard.edu","Contact Person":"Yu Lab","Current Date":"Mon, 02 Jun 2025 00:00:00 GMT","Disease":"MECP2-related Rett syndrome","Display in Registry":"Yes","Gene":"MECP2","Genome Build":"GRCh38","Genomic HGVS":"NC_000023.11:g.154031453G>C","Genomic Position":154031453,"ID":73,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Boston Children's Hospital (Yu Lab)","Mondo":"MONDO:0010726","Predicted protein change (p.)":"p.?","RefSeq Transcript":"NM_004992.4","Reference Allele":"G","Status":"Currently Not Pursued for Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/15737703/","Variant published?":"Yes"},{"Alternate Allele":"G","Approach":"Splice correction","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":4,"Coding DNA change (c.)":"c.291G>C","Comment":"","Confirmed protein or RNA change (for splicing variants)":"","Contact Information (email)":"Tyuresearch@childrens.harvard.edu","Contact Person":"Yu Lab","Current Date":"Mon, 02 Jun 2025 00:00:00 GMT","Disease":"MFSD8-related neuronal ceroid lipofuscinosis","Display in Registry":"Yes","Gene":"MFSD8","Genome Build":"GRCh38","Genomic HGVS":"NC_000004.12:g.127943900C>G","Genomic Position":127943900,"ID":74,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Boston Children's Hospital (Yu Lab)","Mondo":"MONDO:0012588","Predicted protein change (p.)":"p.Trp97Cys","RefSeq Transcript":"NM_152778.4","Reference Allele":"C","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/28794409/","Variant published?":"Yes"},{"Alternate Allele":"","Approach":"Splice correction","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":4,"Coding DNA change (c.)":"c.554-847_554-846insSVA","Comment":"","Confirmed protein or RNA change (for splicing variants)":"Creation of a novel splice acceptor in exon 6, leading to a premature termination codon (r.?)","Contact Information (email)":"Tyuresearch@childrens.harvard.edu","Contact Person":"Yu Lab","Current Date":"Mon, 02 Jun 2025 00:00:00 GMT","Disease":"MFSD8-related neuronal ceroid lipofuscinosis","Display in Registry":"Yes","Gene":"MFSD8","Genome Build":"GRCh38","Genomic HGVS":"NC_000004.12:g.127940843_127940844insTVS","Genomic Position":127940843,"ID":75,"IND available?":"Yes","Indication ":"Brain/Spinal cord","Information on IND":"POC and tox study is able to be shared, if the receiving entity has signed the preclinical DSA with N1C","Institution":"Boston Children's Hospital (Yu Lab)","Mondo":"MONDO:0012588","Predicted protein change (p.)":"p.?","RefSeq Transcript":"NM_001371596.2","Reference Allele":"G","Status":"Clinical Application","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"https://pubmed.ncbi.nlm.nih.gov/31597037/","Variant Publication":"","Variant published?":"Yes"},{"Alternate Allele":"T","Approach":"Splice correction","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":8,"Coding DNA change (c.)":"c.420+784C>T","Comment":"","Confirmed protein or RNA change (for splicing variants)":"shifted alternative splicing leading to increased generation of noncoding transcript","Contact Information (email)":"dcrt@lumc.nl","Contact Person":"DCRT ","Current Date":"Mon, 15 Apr 2024 00:00:00 GMT","Disease":"NDUFAF6-related mitochondrial disease","Display in Registry":"Yes","Gene":"NDUFAF6","Genome Build":"GRCh38","Genomic HGVS":"NC_000008.11:g.95036360C>T","Genomic Position":95036360,"ID":76,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Leiden","Mondo":"MONDO:0044970","Predicted protein change (p.)":"p.?","RefSeq Transcript":"NM_152416.4","Reference Allele":"C","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/29531337/","Variant published?":"Yes"},{"Alternate Allele":"T","Approach":"Knockdown (allele-selective)","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":17,"Coding DNA change (c.)":"c.195+271C>T","Comment":"","Confirmed protein or RNA change (for splicing variants)":"r.?","Contact Information (email)":"Tyuresearch@childrens.harvard.edu","Contact Person":"Yu Lab","Current Date":"Mon, 02 Jun 2025 00:00:00 GMT","Disease":"NDUFAF8-related mitochondrial disease","Display in Registry":"Yes","Gene":"NDUFAF8","Genome Build":"GRCh38","Genomic HGVS":"NC_000017.11:g.81239949C>T","Genomic Position":81239949,"ID":77,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Boston Children's Hospital (Yu Lab)","Mondo":"MONDO:0044970","Predicted protein change (p.)":"p?","RefSeq Transcript":"NM_001086521.2","Reference Allele":"C","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/31866046/","Variant published?":"Yes"},{"Alternate Allele":"T","Approach":"Splice correction","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":18,"Coding DNA change (c.)":"c.1554-1009G>A","Comment":"","Confirmed protein or RNA change (for splicing variants)":"Pseudoexon activation;\n\nr.?","Contact Information (email)":"Tyuresearch@childrens.harvard.edu","Contact Person":"Yu Lab","Current Date":"Mon, 02 Jun 2025 00:00:00 GMT","Disease":"NPC1-related Niemann-Pick disease","Display in Registry":"Yes","Gene":"NPC1","Genome Build":"GRCh38","Genomic HGVS":"NC_000018.10:g.23552736C>T","Genomic Position":23552736,"ID":78,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Boston Children's Hospital (Yu Lab)","Mondo":"MONDO:0009757","Predicted protein change (p.)":"p.?","RefSeq Transcript":"NM_000271.5","Reference Allele":"C","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/20718790/","Variant published?":"Yes"},{"Alternate Allele":"A","Approach":"Knockdown","Cell Line or Animal Model Availability":"Yes, both","Chromosome":14,"Coding DNA change (c.)":"c.625G>A ","Comment":"","Confirmed protein or RNA change (for splicing variants)":"","Contact Information (email)":"heather.olson@childrens.harvard.edu","Contact Person":"Heather Olson","Current Date":"Fri, 23 Jan 2026 00:00:00 GMT","Disease":"PACS2-related developmental and epileptic encephalopathy","Display in Registry":"Yes","Gene":"PACS2","Genome Build":"GRCh38","Genomic HGVS":"NC_000014.9:g.105368112G>A","Genomic Position":105368112,"ID":79,"IND available?":"","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Department of Neurology, Boston Children's Hospital","Mondo":"MONDO:0054845","Predicted protein change (p.)":"p.Glu209Lys","RefSeq Transcript":"NM_001100913.3","Reference Allele":"G","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/29656858/","Variant published?":"Yes"},{"Alternate Allele":"A","Approach":"Exon inclusion","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":"X","Coding DNA change (c.)":"c.453+159G>A ","Comment":"","Confirmed protein or RNA change (for splicing variants)":"shifted PLP1/DM20 alternative splicing","Contact Information (email)":"dcrt@lumc.nl","Contact Person":"DCRT ","Current Date":"Mon, 15 Apr 2024 00:00:00 GMT","Disease":"PLP1-related Pelizaeus-Merzbacher spectrum disorder","Display in Registry":"Yes","Gene":"PLP1","Genome Build":"GRCh38","Genomic HGVS":"NC_000023.11:g.103786885G>A","Genomic Position":103786885,"ID":80,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Leiden","Mondo":"MONDO:0010714","Predicted protein change (p.)":"p.?","RefSeq Transcript":"NM_000533.5","Reference Allele":"G","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"https://pubmed.ncbi.nlm.nih.gov/30195779/","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/26125040/","Variant published?":"Yes"},{"Alternate Allele":"G","Approach":"Exon inclusion","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":"X","Coding DNA change (c.)":"c.454-312C>G","Comment":"","Confirmed protein or RNA change (for splicing variants)":"shifted PLP1/DM20 alternative splicing","Contact Information (email)":"dcrt@lumc.nl","Contact Person":"DCRT ","Current Date":"Mon, 15 Apr 2024 00:00:00 GMT","Disease":"PLP1-related Pelizaeus-Merzbacher spectrum disorder","Display in Registry":"Yes","Gene":"PLP1","Genome Build":"GRCh38","Genomic HGVS":"NC_000023.11:g.103787486C>G","Genomic Position":103787486,"ID":81,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Leiden","Mondo":"MONDO:0010714","Predicted protein change (p.)":"p.?","RefSeq Transcript":"NM_000533.5","Reference Allele":"C","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"https://pubmed.ncbi.nlm.nih.gov/30195779/","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/26125040/","Variant published?":"Yes"},{"Alternate Allele":"T","Approach":"Exon inclusion","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":"X","Coding DNA change (c.)":"c.441A>T","Comment":"","Confirmed protein or RNA change (for splicing variants)":"shifted PLP1/DM20 alternative splicing","Contact Information (email)":"dcrt@lumc.nl","Contact Person":"DCRT ","Current Date":"Sat, 21 Dec 2024 00:00:00 GMT","Disease":"PLP1-related Pelizaeus-Merzbacher spectrum disorder","Display in Registry":"Yes","Gene":"PLP1","Genome Build":"GRCh38","Genomic HGVS":"NC_000023.11:g.103786714A>T","Genomic Position":103786714,"ID":82,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Leiden","Mondo":"MONDO:0010714","Predicted protein change (p.)":"p.Gly147= ","RefSeq Transcript":"NM_000533.5","Reference Allele":"A","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"https://pubmed.ncbi.nlm.nih.gov/30195779/","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/26125040/","Variant published?":"Yes"},{"Alternate Allele":"C","Approach":"Exon inclusion","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":"X","Coding DNA change (c.)":"c.453+28_453+46del","Comment":"","Confirmed protein or RNA change (for splicing variants)":"shifted PLP1/DM20 alternative splicing","Contact Information (email)":"dcrt@lumc.nl","Contact Person":"DCRT ","Current Date":"Sat, 21 Dec 2024 00:00:00 GMT","Disease":"PLP1-related Pelizaeus-Merzbacher spectrum disorder","Display in Registry":"Yes","Gene":"PLP1","Genome Build":"GRCh38","Genomic HGVS":"NC_000023.11:g.103786754_103786772del","Genomic Position":103786751,"ID":83,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Leiden","Mondo":"MONDO:0010714","Predicted protein change (p.)":"p.?","RefSeq Transcript":"NM_000533.5","Reference Allele":"CAATAACAAGGGGTGGGGGA","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"https://pubmed.ncbi.nlm.nih.gov/30195779/","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/12325077/","Variant published?":"Yes"},{"Alternate Allele":"A","Approach":"Exon inclusion","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":"X","Coding DNA change (c.)":"c.347C>A","Comment":"","Confirmed protein or RNA change (for splicing variants)":"shifted PLP1/DM20 alternative splicing","Contact Information (email)":"dcrt@lumc.nl","Contact Person":"DCRT ","Current Date":"Sat, 21 Dec 2024 00:00:00 GMT","Disease":"PLP1-related Pelizaeus-Merzbacher spectrum disorder","Display in Registry":"Yes","Gene":"PLP1","Genome Build":"GRCh38","Genomic HGVS":"NC_000023.11:g.103786620C>A","Genomic Position":103786620,"ID":84,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Leiden","Mondo":"MONDO:0010714","Predicted protein change (p.)":"p.Thr116Lys","RefSeq Transcript":"NM_000533.5","Reference Allele":"C","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"https://pubmed.ncbi.nlm.nih.gov/30195779/","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/30195779/","Variant published?":"Yes"},{"Alternate Allele":"G","Approach":"Exon inclusion","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":"X","Coding DNA change (c.)":"c.453+7A>G","Comment":"","Confirmed protein or RNA change (for splicing variants)":"shifted PLP1/DM20 alternative splicing","Contact Information (email)":"dcrt@lumc.nl","Contact Person":"DCRT ","Current Date":"Sat, 21 Dec 2024 00:00:00 GMT","Disease":"PLP1-related Pelizaeus-Merzbacher spectrum disorder","Display in Registry":"Yes","Gene":"PLP1","Genome Build":"GRCh38","Genomic HGVS":"NC_000023.11:g.103786733A>G","Genomic Position":103786733,"ID":85,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Leiden","Mondo":"MONDO:0010714","Predicted protein change (p.)":"p.?","RefSeq Transcript":"NM_000533.5","Reference Allele":"A","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"https://pubmed.ncbi.nlm.nih.gov/30195779/","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/26125040/","Variant published?":"Yes"},{"Alternate Allele":"T","Approach":"Knockdown","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":7,"Coding DNA change (c.)":"c.2957G>A","Comment":"","Confirmed protein or RNA change (for splicing variants)":"","Contact Information (email)":"Nathan.Ehrlich@gmail.com","Contact Person":"Nathan Ehrlich","Current Date":"Fri, 27 Mar 2026 00:00:00 GMT","Disease":"SAMD9L-related spectrum and myeloid neoplasm risk","Display in Registry":"Yes","Gene":"SAMD9L","Genome Build":"GRCh38","Genomic HGVS":"NC_000007.14:g.93133015C>T","Genomic Position":93133015,"ID":86,"IND available?":"","Indication ":"Other","Information on IND":"","Institution":"ATXPC Foundation","Mondo":"MONDO:1060111","Predicted protein change (p.)":"p.Arg986His","RefSeq Transcript":"NM_152703.5","Reference Allele":"C","Status":"Developed","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/39475954/","Variant published?":"Yes"},{"Alternate Allele":"GGGACCAGCT","Approach":"Knockdown","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":9,"Coding DNA change (c.)":"c.6908_6916dup ","Comment":"","Confirmed protein or RNA change (for splicing variants)":"","Contact Information (email)":"Christiana.wang@bcm.edu","Contact Person":"Christiana Wang","Current Date":"Sat, 18 Oct 2025 00:00:00 GMT","Disease":"SPTAN1-related developmental and epileptic encephalopathy","Display in Registry":"Yes","Gene":"SPTAN1","Genome Build":"GRCh38","Genomic HGVS":"NC_000009.12:g.128632272_128632280dup","Genomic Position":128632260,"ID":87,"IND available?":"","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Baylor College of Medicine (Pengfei Liu Lab)","Mondo":"MONDO:0100062","Predicted protein change (p.)":"p.Asp2303_Leu2305dup","RefSeq Transcript":"NM_001130438.3","Reference Allele":"G","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/22656320/","Variant published?":"Yes"},{"Alternate Allele":"C","Approach":"Knockdown","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":9,"Coding DNA change (c.)":"c.399T>G","Comment":"","Confirmed protein or RNA change (for splicing variants)":"","Contact Information (email)":"haiyan.zhou@ucl.ac.uk","Contact Person":"UPNAT - Zhou Lab","Current Date":"Tue, 16 Jul 2024 00:00:00 GMT","Disease":"SPTLC1-related hereditary sensory and autonomic neuropathy, type 1A","Display in Registry":"Yes","Gene":"SPTLC1","Genome Build":"GRCh38","Genomic HGVS":"NC_000009.12:g.92080044A>C","Genomic Position":92080044,"ID":88,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"UCL","Mondo":"MONDO:0008086","Predicted protein change (p.)":"p.Cys133Trp","RefSeq Transcript":"NM_006415.4","Reference Allele":"A","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/16210380/","Variant published?":"Yes"},{"Alternate Allele":"A","Approach":"Knockdown","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":6,"Coding DNA change (c.)":"c.130G>A","Comment":"","Confirmed protein or RNA change (for splicing variants)":"","Contact Information (email)":"matias.wagner@mri.tum.de","Contact Person":"Matias Wagner","Current Date":"Thu, 26 Mar 2026 00:00:00 GMT","Disease":"TMEM63B-related developmental and epileptic encephalopathy with anemia","Display in Registry":"Yes","Gene":"TMEM63B","Genome Build":"GRCh38","Genomic HGVS":"NC_000006.12:g.44134714G>A","Genomic Position":44134714,"ID":61,"IND available?":"","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Institute of Human Genetics, Technical University Munich","Mondo":"MONDO:0800503","Predicted protein change (p.)":"p.Val44Met","RefSeq Transcript":"NM_018426.3","Reference Allele":"G","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/37421948/","Variant published?":"Yes"},{"Alternate Allele":"T","Approach":"Knockdown (allele-selective)","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":19,"Coding DNA change (c.)":"c.466G>A","Comment":"","Confirmed protein or RNA change (for splicing variants)":"","Contact Information (email)":"https://www.tnpo2.org/","Contact Person":"TNPO2 Foundation","Current Date":"Sun, 25 May 2025 00:00:00 GMT","Disease":"TNPO2-related intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies","Display in Registry":"Yes","Gene":"TNPO2","Genome Build":"GRCh38","Genomic HGVS":"NC_000019.10:g.12715505C>T","Genomic Position":12715505,"ID":62,"IND available?":"Yes","Indication ":"Brain/Spinal cord","Information on IND":"https://www.tnpo2.org/ind-documents","Institution":"TNPO2 Foundation","Mondo":"MONDO:0859197","Predicted protein change (p.)":"p.Asp156Asn","RefSeq Transcript":"NM_001382241.1","Reference Allele":"C","Status":"Clinical Application","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pmc.ncbi.nlm.nih.gov/articles/PMC8456166/","Variant published?":"Yes"},{"Alternate Allele":"C","Approach":"Splice correction","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":11,"Coding DNA change (c.)":"c.225A>G","Comment":"","Confirmed protein or RNA change (for splicing variants)":"Partial exon deletion;\nr.225_229del, p.Tyr76Lysfs*10","Contact Information (email)":"tyuresearch@childrens.harvard.edu","Contact Person":"Yu Lab","Current Date":"Wed, 20 May 2026 00:00:00 GMT","Disease":"TPP1-related neuronal ceroid lipofuscinosis ","Display in Registry":"Yes","Gene":"TPP1","Genome Build":"GRCh38","Genomic HGVS":"NC_000011.10:g.6618780T>C","Genomic Position":6618780,"ID":63,"IND available?":"","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Boston Children's Hospital (Yu Lab)","Mondo":"MONDO:0008769","Predicted protein change (p.)":"p.Gln75=","RefSeq Transcript":"NM_000391.4","Reference Allele":"T","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/34126256/","Variant published?":"Yes"},{"Alternate Allele":"T","Approach":"Splice correction","Cell Line or Animal Model Availability":"No","Chromosome":1,"Coding DNA change (c.)":"c.949C>A","Comment":"","Confirmed protein or RNA change (for splicing variants)":"r.951_1143del, p.Tyr318Valfs*9","Contact Information (email)":"Tyuresearch@childrens.harvard.edu","Contact Person":"Yu Lab","Current Date":"Wed, 20 May 2026 00:00:00 GMT","Disease":"USH2A-related Usher syndrome","Display in Registry":"Yes","Gene":"USH2A","Genome Build":"GRCh38","Genomic HGVS":"NC_000001.11:g.216325499G>T","Genomic Position":216325499,"ID":64,"IND available?":"No","Indication ":"Eye","Information on IND":"","Institution":"Boston Children's Hospital (Yu Lab)","Mondo":"MONDO:0019501","Predicted protein change (p.)":"p.Arg317=","RefSeq Transcript":"NM_206933.4","Reference Allele":"G","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/34948090/","Variant published?":"Yes"},{"Alternate Allele":"C","Approach":"Splice correction","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":1,"Coding DNA change (c.)":"c.7595-2144A>G","Comment":"","Confirmed protein or RNA change (for splicing variants)":"Pseudoexon activation;\n\nr.7594_7595ins[7595-2296_7595-2143]","Contact Information (email)":"Tyuresearch@childrens.harvard.edu","Contact Person":"Yu Lab","Current Date":"Wed, 20 May 2026 00:00:00 GMT","Disease":"USH2A-related Usher syndrome","Display in Registry":"Yes","Gene":"USH2A","Genome Build":"GRCh38","Genomic HGVS":"NC_000001.11:g.215891198T>C","Genomic Position":215891198,"ID":65,"IND available?":"No","Indication ":"Eye","Information on IND":"","Institution":"Boston Children's Hospital (Yu Lab)","Mondo":"MONDO:0019501","Predicted protein change (p.)":"p.?","RefSeq Transcript":"NM_206933.4","Reference Allele":"T","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/22009552/","Variant published?":"Yes"},{"Alternate Allele":"C","Approach":"Splice correction","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":7,"Coding DNA change (c.)":"c.1359+601A>G","Comment":"","Confirmed protein or RNA change (for splicing variants)":"Intron 6; creates cryptic donor site \n\nr.?","Contact Information (email)":"Tyuresearch@childrens.harvard.edu","Contact Person":"Yu Lab","Current Date":"Wed, 20 May 2026 00:00:00 GMT","Disease":"PEX1-related peroxisome biogenesis disorder","Display in Registry":"Yes","Gene":"PEX1","Genome Build":"GRCh38","Genomic HGVS":"NC_000007.14:g.92513247T>C","Genomic Position":92513247,"ID":89,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Boston Children's Hospital, Yu Lab","Mondo":"MONDO:0100259","Predicted protein change (p.)":"p.?","RefSeq Transcript":"NM_000466.3","Reference Allele":"T","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://www.ncbi.nlm.nih.gov/clinvar/variation/4282438","Variant published?":"No"},{"Alternate Allele":"C","Approach":"Knockdown","Cell Line or Animal Model Availability":"Yes, cell line","Chromosome":12,"Coding DNA change (c.)":"c.1103T>C ","Comment":"","Confirmed protein or RNA change (for splicing variants)":"","Contact Information (email)":"Tyuresearch@childrens.harvard.edu","Contact Person":"Yu Lab","Current Date":"Wed, 20 May 2026 00:00:00 GMT","Disease":"SYT1-related infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome","Display in Registry":"Yes","Gene":"SYT1","Genome Build":"GRCh38","Genomic HGVS":"NC_000012.12:g.79448958T>C","Genomic Position":79448958,"ID":90,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Boston Children's Hospital (Yu Lab)","Mondo":"MONDO:0033864","Predicted protein change (p.)":"p.Ile368Thr","RefSeq Transcript":"NM_005639.3","Reference Allele":"T","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pmc.ncbi.nlm.nih.gov/articles/PMC4396464/","Variant published?":"Yes"},{"Alternate Allele":"A","Approach":"Knockdown","Cell Line or Animal Model Availability":"Yes, both","Chromosome":9,"Coding DNA change (c.)":"c.1197-8G>A","Comment":"Splice modulating approach also being attempted","Confirmed protein or RNA change (for splicing variants)":"Partial intron retention:\nr.1196_1197ins[1197-6_1197-1], p.(Arg399_Trp400insCysArg)","Contact Information (email)":"Tyuresearch@childrens.harvard.edu","Contact Person":"Yu Lab","Current Date":"Wed, 20 May 2026 00:00:00 GMT","Disease":"DNM1-related developmental and epileptic encephalopathy","Display in Registry":"Yes","Gene":"DNM1","Genome Build":"GRCh38","Genomic HGVS":"NC_000009.12:g.128224243G>A","Genomic Position":128224243,"ID":91,"IND available?":"","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Boston Children's Hospital (Yu Lab)","Mondo":"MONDO:0014598","Predicted protein change (p.)":"p.?","RefSeq Transcript":"NM_004408.4","Reference Allele":"G","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pmc.ncbi.nlm.nih.gov/articles/PMC9748255/","Variant published?":"Yes"}]