[{"Approach":"Splice correction","Cell Line or Animal Model Availability":"Yes, cell line","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","Display in Registry":"Yes","Gene":"ATM","ID":1,"IND available?":"Yes","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Boston Children's Hospital, Yu Lab","Predicted protein change (p.)":"p.Ala2622Val","RefSeq Transcript":"NM_000051.4","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"},{"Approach":"Splice correction","Cell Line or Animal Model Availability":"Yes, cell line","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","Display in Registry":"Yes","Gene":"ATM","ID":3,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Boston Children's Hospital, Yu Lab","Predicted protein change (p.)":"p.?","RefSeq Transcript":"NM_000051.4","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/8755918/","Variant published?":"Yes"},{"Approach":"Splice correction","Cell Line or Animal Model Availability":"No","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":"Mon, 02 Jun 2025 00:00:00 GMT","Display in Registry":"Yes","Gene":"USH2A","ID":7,"IND available?":"No","Indication ":"Eye","Information on IND":"","Institution":"Boston Children's Hospital, Yu Lab","Predicted protein change (p.)":"p.Arg317=","RefSeq Transcript":"NM_206933.4","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/34948090/","Variant published?":"Yes"},{"Approach":"Knockdown","Cell Line or Animal Model Availability":"Yes, cell line","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","Display in Registry":"Yes","Gene":"ATP1A3","ID":9,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Boston Children's Hospital, Yu Lab","Predicted protein change (p.)":"p.Glu815Lys","RefSeq Transcript":"NM_152296.5","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/22842232/","Variant published?":"Yes"},{"Approach":"Splice correction","Cell Line or Animal Model Availability":"Yes, cell line","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":"Mon, 02 Jun 2025 00:00:00 GMT","Display in Registry":"Yes","Gene":"USH2A","ID":10,"IND available?":"No","Indication ":"Eye","Information on IND":"","Institution":"Boston Children's Hospital, Yu Lab","Predicted protein change (p.)":"p.?","RefSeq Transcript":"NM_206933.4","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/22009552/","Variant published?":"Yes"},{"Approach":"Knockdown","Cell Line or Animal Model Availability":"Yes, cell line","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","Display in Registry":"Yes","Gene":"KCNQ2","ID":12,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Boston Children's Hospital, Yu Lab","Predicted protein change (p.)":"p.His228Arg","RefSeq Transcript":"NM_172107.4","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/31951342/","Variant published?":"Yes"},{"Approach":"Splice correction","Cell Line or Animal Model Availability":"Yes, cell line","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","Display in Registry":"Yes","Gene":"MFSD8","ID":14,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Boston Children's Hospital, Yu Lab","Predicted protein change (p.)":"p.Trp97Cys","RefSeq Transcript":"NM_152778.4","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/28794409/","Variant published?":"Yes"},{"Approach":"Knockdown","Cell Line or Animal Model Availability":"Yes, cell line","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","Display in Registry":"Yes","Gene":"KCNT1","ID":15,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Boston Children's Hospital, Yu Lab","Predicted protein change (p.)":"p.Arg474His","RefSeq Transcript":"NM_020822.3","Status":"Clinical Application","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/23086397/","Variant published?":"Yes"},{"Approach":"Splice correction","Cell Line or Animal Model Availability":"Yes, cell line","Coding DNA change (c.)":"c.378-3C>G","Comment":"","Confirmed protein or RNA change (for splicing variants)":"Intron 3; strengthens new acceptor site 1bp upstream of the variant; weakens canonical splice site 3bp upstream of the variant\n\nr.?","Contact Information (email)":"Tyuresearch@childrens.harvard.edu","Contact Person":"Yu Lab","Current Date":"Mon, 02 Jun 2025 00:00:00 GMT","Display in Registry":"Yes","Gene":"KCNT1","ID":17,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Boston Children's Hospital, Yu Lab","Predicted protein change (p.)":"p.?","RefSeq Transcript":"NM_004992.4","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/15737703/","Variant published?":"Yes"},{"Approach":"Splice correction","Cell Line or Animal Model Availability":"Yes, cell line","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","Display in Registry":"Yes","Gene":"ATM","ID":19,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Tuebingen","Predicted protein change (p.)":"p.?","RefSeq Transcript":"NM_000051.4","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/11889466/","Variant published?":"Yes"},{"Approach":"Splice correction","Cell Line or Animal Model Availability":"Yes, cell line","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","Display in Registry":"Yes","Gene":"ATM","ID":21,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Tuebingen","Predicted protein change (p.)":"p.?","RefSeq Transcript":"NM_000051.4","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/34453918/","Variant published?":"Yes"},{"Approach":"Splice correction","Cell Line or Animal Model Availability":"Yes, cell line","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","Display in Registry":"Yes","Gene":"ATM","ID":22,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Tuebingen","Predicted protein change (p.)":"p.Ile323Val","RefSeq Transcript":"NM_000051.4","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/31050087/","Variant published?":"Yes"},{"Approach":"Splice correction","Cell Line or Animal Model Availability":"Yes, cell line","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","Display in Registry":"Yes","Gene":"ATM","ID":23,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Tuebingen","Predicted protein change (p.)":"p.Arg248Leu","RefSeq Transcript":"NM_000051.4","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/24120321/","Variant published?":"Yes"},{"Approach":"Splice correction","Cell Line or Animal Model Availability":"Yes, cell line","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","Display in Registry":"Yes","Gene":"ATM","ID":24,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Tuebingen","Predicted protein change (p.)":"p.Ser2855Arg","RefSeq Transcript":"NM_000051.4","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"","Variant published?":"Yes"},{"Approach":"Exon inclusion","Cell Line or Animal Model Availability":"Yes, cell line","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","Display in Registry":"Yes","Gene":"ATM","ID":25,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Tuebingen","Predicted protein change (p.)":"p.Lys750=","RefSeq Transcript":"NM_000051.4","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/9887333/","Variant published?":"Yes"},{"Approach":"Exon inclusion","Cell Line or Animal Model Availability":"Yes, cell line","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","Display in Registry":"Yes","Gene":"ATM","ID":26,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Tuebingen","Predicted protein change (p.)":"p.Lys792=","RefSeq Transcript":"NM_000051.4","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/9792409/","Variant published?":"Yes"},{"Approach":"Exon inclusion","Cell Line or Animal Model Availability":"Yes, cell line","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","Display in Registry":"Yes","Gene":"ATM","ID":27,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Tuebingen","Predicted protein change (p.)":"p.Lys1192=","RefSeq Transcript":"NM_000051.4","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/9887333/","Variant published?":"Yes"},{"Approach":"Exon inclusion","Cell Line or Animal Model Availability":"Yes, cell line","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","Display in Registry":"Yes","Gene":"ATM","ID":28,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Tuebingen","Predicted protein change (p.)":"p.Glu2596=","RefSeq Transcript":"NM_000051.4","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/9792409/","Variant published?":"Yes"},{"Approach":"Splice correction","Cell Line or Animal Model Availability":"","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","Display in Registry":"Yes","Gene":"ABCA4","ID":29,"IND available?":"No","Indication ":"Eye","Information on IND":"","Institution":"Nijmegen","Predicted protein change (p.)":"p.?","RefSeq Transcript":"NM_000350.3","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"},{"Approach":"Splice correction","Cell Line or Animal Model Availability":"","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","Display in Registry":"Yes","Gene":"ABCA4","ID":30,"IND available?":"No","Indication ":"Eye","Information on IND":"","Institution":"Nijmegen","Predicted protein change (p.)":"p.?","RefSeq Transcript":"NM_000350.3","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"},{"Approach":"Knockdown","Cell Line or Animal Model Availability":"","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","Display in Registry":"Yes","Gene":"ACTL6B","ID":31,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Leiden","Predicted protein change (p.)":"p.Gly343Arg","RefSeq Transcript":"NM_016188.5","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/31031012/","Variant published?":"Yes"},{"Approach":"Splice correction","Cell Line or Animal Model Availability":"Yes, cell line","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","Display in Registry":"Yes","Gene":"NDUFAF6","ID":32,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Leiden","Predicted protein change (p.)":"p.?","RefSeq Transcript":"NM_152416.4","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/29531337/","Variant published?":"Yes"},{"Approach":"Exon Skipping","Cell Line or Animal Model Availability":"No","Coding DNA change (c.)":"c.2086_2229 (exon 13)","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","Display in Registry":"Yes","Gene":"ANKRD17","ID":35,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Leiden","Predicted protein change (p.)":"","RefSeq Transcript":"NM_032217.5","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"","Variant published?":""},{"Approach":"Exon inclusion","Cell Line or Animal Model Availability":"Yes, cell line","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","Display in Registry":"Yes","Gene":"PLP1","ID":37,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Leiden","Predicted protein change (p.)":"p.?","RefSeq Transcript":"NM_000533.5","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"},{"Approach":"Exon inclusion","Cell Line or Animal Model Availability":"Yes, cell line","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","Display in Registry":"Yes","Gene":"PLP1","ID":38,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Leiden","Predicted protein change (p.)":"p.?","RefSeq Transcript":"NM_000533.5","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"},{"Approach":"Exon inclusion","Cell Line or Animal Model Availability":"Yes, cell line","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","Display in Registry":"Yes","Gene":"PLP1","ID":39,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Leiden","Predicted protein change (p.)":"p.Gly147= ","RefSeq Transcript":"NM_000533.5","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"},{"Approach":"Exon inclusion","Cell Line or Animal Model Availability":"Yes, cell line","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","Display in Registry":"Yes","Gene":"PLP1","ID":40,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Leiden","Predicted protein change (p.)":"p.?","RefSeq Transcript":"NM_000533.5","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"},{"Approach":"Exon inclusion","Cell Line or Animal Model Availability":"Yes, cell line","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","Display in Registry":"Yes","Gene":"PLP1","ID":41,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Leiden","Predicted protein change (p.)":"p.Thr116Lys","RefSeq Transcript":"NM_000533.5","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"},{"Approach":"Exon inclusion","Cell Line or Animal Model Availability":"Yes, cell line","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","Display in Registry":"Yes","Gene":"PLP1","ID":42,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Leiden","Predicted protein change (p.)":"p.?","RefSeq Transcript":"NM_000533.5","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"},{"Approach":"Knockdown","Cell Line or Animal Model Availability":"Yes, cell line","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","Display in Registry":"Yes","Gene":"FAR1","ID":45,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Leiden","Predicted protein change (p.)":"p.Arg480Cys","RefSeq Transcript":"NM_032228.6","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/33239752/","Variant published?":"Yes"},{"Approach":"Knockdown","Cell Line or Animal Model Availability":"Yes, cell line","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","Display in Registry":"Yes","Gene":"FAR1","ID":46,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Leiden","Predicted protein change (p.)":"p.Arg480His","RefSeq Transcript":"NM_032228.6","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/33239752/","Variant published?":"Yes"},{"Approach":"Splice correction","Cell Line or Animal Model Availability":"Yes, cell line","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","Display in Registry":"Yes","Gene":"COL6A1","ID":47,"IND available?":"No","Indication ":"Muscular","Information on IND":"","Institution":"UCL","Predicted protein change (p.)":"p.?","RefSeq Transcript":"NM_001848.3","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"},{"Approach":"Knockdown","Cell Line or Animal Model Availability":"Yes, cell line","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","Display in Registry":"Yes","Gene":"COL6A3","ID":48,"IND available?":"No","Indication ":"Muscular","Information on IND":"","Institution":"UCL","Predicted protein change (p.)":"p.?","RefSeq Transcript":"NM_004369.4","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"},{"Approach":"Knockdown","Cell Line or Animal Model Availability":"Yes, cell line","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","Display in Registry":"Yes","Gene":"COL6A3","ID":49,"IND available?":"No","Indication ":"Muscular","Information on IND":"","Institution":"UCL","Predicted protein change (p.)":"p.Ile2046_Pro2051del","RefSeq Transcript":"NM_004369.4","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"},{"Approach":"Knockdown","Cell Line or Animal Model Availability":"Yes, cell line","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","Display in Registry":"Yes","Gene":"SPTLC1","ID":50,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"UCL","Predicted protein change (p.)":"p.Cys133Trp","RefSeq Transcript":"NM_006415.4","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/16210380/","Variant published?":"Yes"},{"Approach":"Splice correction","Cell Line or Animal Model Availability":"Yes, cell line","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","Display in Registry":"Yes","Gene":"MFSD8","ID":51,"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","Predicted protein change (p.)":"p.?","RefSeq Transcript":"NM_001371596.2","Status":"Clinical Application","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"https://pubmed.ncbi.nlm.nih.gov/31597037/","Variant Publication":"","Variant published?":"Yes"},{"Approach":"Knockdown","Cell Line or Animal Model Availability":"","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","Display in Registry":"Yes","Gene":"C9orf72","ID":52,"IND available?":"Unknown","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"UMass Chan","Predicted protein change (p.)":"","RefSeq Transcript":"","Status":"Clinical Application","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"https://pubmed.ncbi.nlm.nih.gov/34949835/","Variant Publication":"","Variant published?":"Unknown"},{"Approach":"Exon Skipping","Cell Line or Animal Model Availability":"","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","Display in Registry":"Yes","Gene":"CLN3","ID":53,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"University of North Carolina Chapel Hill, University of Michigan, ForeBatten Foundation","Predicted protein change (p.)":"p.Ala191Serfs*45 ","RefSeq Transcript":"NM_001042432.2","Status":"Clinical Application","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"https://www.forebatten.org/zebronkysen","Variant Publication":"","Variant published?":"Yes"},{"Approach":"Knockdown","Cell Line or Animal Model Availability":"","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","Display in Registry":"Yes","Gene":"FUS","ID":54,"IND available?":"Unknown","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Columbia, Ionis","Predicted protein change (p.)":"p.Pro525Leu","RefSeq Transcript":"NM_004960.4","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"},{"Approach":"Knockdown (allele-selective)","Cell Line or Animal Model Availability":"Yes, cell line","Coding DNA change (c.)":"c.466G>A","Comment":"ASO targets the variant","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","Display in Registry":"Yes","Gene":"TNPO2","ID":55,"IND available?":"Yes","Indication ":"Brain/Spinal cord","Information on IND":"https://www.tnpo2.org/ind-documents","Institution":"TNPO2 Foundation","Predicted protein change (p.)":"p.Asp156Asn","RefSeq Transcript":"NM_001382241.1","Status":"Clinical Application","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"","Variant published?":"Yes"},{"Approach":"","Cell Line or Animal Model Availability":"","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","Display in Registry":"Yes","Gene":"AP4M1","ID":56,"IND available?":"Yes","Indication ":"Brain/Spinal cord","Information on IND":"https://www.elpidatx.com/documents","Institution":"SickKids","Predicted protein change (p.)":"","RefSeq Transcript":"NM_004722.4","Status":"Clinical Application","Therapeutic Modality":"Gene replacement","Therapy Publication":"https://pubmed.ncbi.nlm.nih.gov/38942994/","Variant Publication":"","Variant published?":"Yes"},{"Approach":"","Cell Line or Animal Model Availability":"","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","Display in Registry":"Yes","Gene":"CPS1","ID":57,"IND available?":"Unknown","Indication ":"Liver","Information on IND":"","Institution":"Children\u2019s Hospital of Philadelphia","Predicted protein change (p.)":"p.Gln335*","RefSeq Transcript":"NM_001875.5","Status":"Clinical Application","Therapeutic Modality":"Gene editing","Therapy Publication":"https://www.nejm.org/doi/full/10.1056/NEJMoa2504747","Variant Publication":"","Variant published?":"Yes"},{"Approach":"Splice correction","Cell Line or Animal Model Availability":"Yes, cell line","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","Display in Registry":"Yes","Gene":"NPC1","ID":57,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Boston Children's Hospital, Yu Lab","Predicted protein change (p.)":"p.?","RefSeq Transcript":"NM_000271.5","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/20718790/","Variant published?":"Yes"},{"Approach":"Knockdown (allele-selective)","Cell Line or Animal Model Availability":"Yes, cell line","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","Display in Registry":"Yes","Gene":"DNAJC5","ID":58,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Boston Children's Hospital, Yu Lab","Predicted protein change (p.)":"p.Leu115Arg","RefSeq Transcript":"NM_025219.3","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/22235333/","Variant published?":"Yes"},{"Approach":"Knockdown (allele-selective)","Cell Line or Animal Model Availability":"Yes, cell line","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","Display in Registry":"Yes","Gene":"NDUFAF8","ID":59,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Boston Children's Hospital, Yu Lab","Predicted protein change (p.)":"p?","RefSeq Transcript":"NM_001086521.2","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/31866046/","Variant published?":"Yes"},{"Approach":"Splice correction","Cell Line or Animal Model Availability":"Yes, cell line","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","Display in Registry":"Yes","Gene":"ABCA4","ID":60,"IND available?":"No","Indication ":"Eye","Information on IND":"","Institution":"Boston Children's Hospital, Yu Lab","Predicted protein change (p.)":"p?","RefSeq Transcript":"NM_000350.3","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/36910710/","Variant published?":"Yes"},{"Approach":"Knockdown","Cell Line or Animal Model Availability":"","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","Display in Registry":"Yes","Gene":"FUS","ID":61,"IND available?":"Unknown","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Columbia, Ionis","Predicted protein change (p.)":"p.Arg521Leu","RefSeq Transcript":"NM_004960.4","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"},{"Approach":"Knockdown","Cell Line or Animal Model Availability":"","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","Display in Registry":"Yes","Gene":"FUS","ID":62,"IND available?":"Unknown","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Columbia, Ionis","Predicted protein change (p.)":"p.Gly515_Glu516insAsp","RefSeq Transcript":"NM_004960.4","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"},{"Approach":"Knockdown","Cell Line or Animal Model Availability":"","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","Display in Registry":"Yes","Gene":"FUS","ID":63,"IND available?":"Unknown","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Columbia, Ionis","Predicted protein change (p.)":"p.Gly191Ser","RefSeq Transcript":"NM_004960.4","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"},{"Approach":"Knockdown","Cell Line or Animal Model Availability":"","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","Display in Registry":"Yes","Gene":"FUS","ID":64,"IND available?":"Unknown","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Columbia, Ionis","Predicted protein change (p.)":"p.Arg521Gly","RefSeq Transcript":"NM_004960.4","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"},{"Approach":"Exon Skipping","Cell Line or Animal Model Availability":"Yes, cell line","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","Display in Registry":"Yes","Gene":"ATM","ID":69,"IND available?":"No","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Tuebingen","Predicted protein change (p.)":"p.Glu522Ilefs*43","RefSeq Transcript":"NM_000051.4","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/39067332/","Variant published?":"Yes"},{"Approach":"","Cell Line or Animal Model Availability":"Yes, cell line","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","Display in Registry":"Yes","Gene":"LMNA","ID":73,"IND available?":"","Indication ":"","Information on IND":"","Institution":"The Progeria Research Foundation","Predicted protein change (p.)":"p.Gly608=","RefSeq Transcript":"NM_170707.4","Status":"Under Development","Therapeutic Modality":"Gene editing","Therapy Publication":"","Variant Publication":"","Variant published?":"Yes"},{"Approach":"Exon Skipping","Cell Line or Animal Model Availability":"Yes, cell line","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","Display in Registry":"Yes","Gene":"COL7A1","ID":71,"IND available?":"No","Indication ":"Skin","Information on IND":"","Institution":"Personalised Medicine Centre, Murdoch University","Predicted protein change (p.)":"p.Gly2269Arg","RefSeq Transcript":"NM_000094.4","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"","Variant published?":"No"},{"Approach":"Exon Skipping","Cell Line or Animal Model Availability":"Yes, cell line","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","Display in Registry":"Yes","Gene":"COL7A1","ID":72,"IND available?":"No","Indication ":"Skin","Information on IND":"","Institution":"Personalised Medicine Centre, Murdoch University","Predicted protein change (p.)":"p.Arg669*","RefSeq Transcript":"NM_000094.4","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/26076072/","Variant published?":"Yes"},{"Approach":"Exon Skipping","Cell Line or Animal Model Availability":"Yes, cell line","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","Display in Registry":"Yes","Gene":"COL7A1","ID":73,"IND available?":"No","Indication ":"Skin","Information on IND":"","Institution":"Personalised Medicine Centre, Murdoch University","Predicted protein change (p.)":"p.Gly2596Valfs*35","RefSeq Transcript":"NM_000094.4","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/24213372/","Variant published?":"Yes"},{"Approach":"Splice correction","Cell Line or Animal Model Availability":"Yes, cell line","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, 10 Sep 2025 00:00:00 GMT","Display in Registry":"Yes","Gene":"TPP1","ID":74,"IND available?":"","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Boston Children's Hospital, Yu Lab","Predicted protein change (p.)":"p.Gln75=","RefSeq Transcript":"NM_000391.4","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/34126256/","Variant published?":"Yes"},{"Approach":"Knockdown","Cell Line or Animal Model Availability":"Yes, cell line","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","Display in Registry":"Yes","Gene":"SPTAN1","ID":75,"IND available?":"","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Baylor College of Medicine, Pengfei Liu Lab","Predicted protein change (p.)":"p.Asp2303_Leu2305dup","RefSeq Transcript":"NM_001130438.3","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/22656320/","Variant published?":"Yes"},{"Approach":"Knockdown","Cell Line or Animal Model Availability":"Yes, cell line","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","Display in Registry":"Yes","Gene":"EHMT2","ID":76,"IND available?":"","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Spanish National Institute of Health Carlos III (ISCIII)","Predicted protein change (p.)":"p.Ala1077Ser","RefSeq Transcript":"NM_006709.5","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"},{"Approach":"Knockdown","Cell Line or Animal Model Availability":"Yes, both","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","Display in Registry":"Yes","Gene":"GNAO1","ID":77,"IND available?":"","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Sheba Medical Center","Predicted protein change (p.)":"p.Glu246Lys","RefSeq Transcript":"NM_020988.3","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"},{"Approach":"Knockdown","Cell Line or Animal Model Availability":"Yes, both","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","Display in Registry":"Yes","Gene":"PACS2","ID":79,"IND available?":"","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Department of Neurology, Boston Children's Hospital","Predicted protein change (p.)":"p.Glu209Lys","RefSeq Transcript":"NM_001100913.3","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/29656858/","Variant published?":"Yes"},{"Approach":"","Cell Line or Animal Model Availability":"","Coding DNA change (c.)":"","Comment":"SPG50","Confirmed protein or RNA change (for splicing variants)":"","Contact Information (email)":"","Contact Person":"SickKids","Current Date":"Tue, 24 Feb 2026 00:00:00 GMT","Display in Registry":"Yes","Gene":"AP4M1","ID":81,"IND available?":"","Indication ":"Brain/Spinal cord","Information on IND":"https://www.elpidatx.com/documents","Institution":"","Predicted protein change (p.)":"","RefSeq Transcript":"NM_004722.4","Status":"Clinical Application","Therapeutic Modality":"Gene replacement","Therapy Publication":"https://pubmed.ncbi.nlm.nih.gov/38942994/","Variant Publication":"","Variant published?":""},{"Approach":"Knockdown","Cell Line or Animal Model Availability":"Yes, cell line","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","Display in Registry":"Yes","Gene":"TMEM63B","ID":82,"IND available?":"","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"Institute of Human Genetics, Technical University Munich","Predicted protein change (p.)":"p.Val44Met","RefSeq Transcript":"NM_018426.3","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/37421948/","Variant published?":"Yes"},{"Approach":"","Cell Line or Animal Model Availability":"Yes, both","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","Display in Registry":"Yes","Gene":"LNPK","ID":83,"IND available?":"","Indication ":"","Information on IND":"","Institution":"RareOlive.org","Predicted protein change (p.)":"","RefSeq Transcript":"NM_030650.3","Status":"Under Development","Therapeutic Modality":"Gene replacement","Therapy Publication":"","Variant Publication":"","Variant published?":""},{"Approach":"","Cell Line or Animal Model Availability":"Yes, mouse model","Coding DNA change (c.)":"c.239T>C","Comment":"","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","Display in Registry":"Yes","Gene":"GNB1","ID":84,"IND available?":"","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"GNB1 Advocacy Group","Predicted protein change (p.)":"p.Ile80Thr","RefSeq Transcript":"NM_002074.5","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/27108799/","Variant published?":"Yes"},{"Approach":"","Cell Line or Animal Model Availability":"Yes, mouse model","Coding DNA change (c.)":"c.233A>G","Comment":"","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","Display in Registry":"Yes","Gene":"GNB1","ID":85,"IND available?":"","Indication ":"Brain/Spinal cord","Information on IND":"","Institution":"GNB1 Advocacy Group","Predicted protein change (p.)":"p.Lys78Arg","RefSeq Transcript":"NM_002074.5","Status":"Under Development","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/27108799/","Variant published?":"Yes"},{"Approach":"Knockdown","Cell Line or Animal Model Availability":"Yes, cell line","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","Display in Registry":"Yes","Gene":"SAMD9L","ID":86,"IND available?":"","Indication ":"Other","Information on IND":"","Institution":"ATXPC Foundation","Predicted protein change (p.)":"p.Arg986His","RefSeq Transcript":"NM_152703.5","Status":"Developed","Therapeutic Modality":"Antisense oligonucleotide","Therapy Publication":"","Variant Publication":"https://pubmed.ncbi.nlm.nih.gov/39475954/","Variant published?":"Yes"}]