9990[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1495301.	GRCh38/hg38 15q11.2-14(chr15:23319714-38545325)x3 GRCh37: Chr15:22765628-38837526 GRCh38: Chr15:23319714-38545325	ACTC1, APBA2, AQR, ARHGAP11B-DT, ARHGAP11A, ARHGAP11A-DT, ARHGAP11A-SCG5, ARHGAP11B, ATP10A, ATP10A-DT, AVEN, CDIN1, CHRFAM7A, CHRM5, CHRNA7, DPH6, DPH6-DT, EMC4, EMC7, ENTREP2, FAM98B, FAN1, FMN1, GABRA5, GABRB3, GABRG3, GABRG3-AS1, GJD2, GJD2-DT, GOLGA6L2, GOLGA6L24, GOLGA6L25, GOLGA6L26, GOLGA6L7, GOLGA8A, GOLGA8B, GOLGA8F, GOLGA8G, GOLGA8H, GOLGA8J, GOLGA8K, GOLGA8M, GOLGA8N, GOLGA8O, GOLGA8Q, GOLGA8R, GOLGA8S, GOLGA8T, GREM1, GREM1-AS1, HERC2, IPW, KATNBL1, KLF13, LCIIAR, LINC00929, LINC01852, LINC02249, LINC02250, LINC02252, LINC02256, LINC02345, LINC02346, LINC02352, LINC02853, LINC03034, LOC105370764, LOC106736464, LOC106736465, LOC106736468, LOC106736469, LOC106736476, LOC106736477, LOC106736480, LOC106736481, LOC106783506, LOC108004527, LOC110120842, LOC110120858, LOC110120896, LOC110120905, LOC110120936, LOC110120937, LOC110121498, LOC112272578, LOC112272579, LOC112272580, LOC112272581, LOC112272582, LOC112272583, LOC113939943, LOC121530575, LOC121530576, LOC121847940, LOC121847941, LOC125078046, LOC125078047, LOC125078048, LOC125078049, LOC125078051, LOC125078052, LOC125078053, LOC125078054, LOC125078055, LOC125078056, LOC125078057, LOC125078058, LOC125078059, LOC126862075, LOC126862076, LOC126862077, LOC126862078, LOC126862079, LOC126862080, LOC126862081, LOC126862082, LOC126862083, LOC126862084, LOC126862085, LOC126862086, LOC126862087, LOC126862088, LOC126862089, LOC126862090, LOC126862091, LOC126862092, LOC126862093, LOC126862094, LOC126862095, LOC126862096, LOC126862097, LOC126862098, LOC126862099, LOC126862100, LOC126862101, LOC126862102, LOC126862103, LOC126862104, LOC126862105, LOC127829159, LOC128772394, LOC128899998, LOC128899999, LOC129390675, LOC129390676, LOC129390677, LOC129390678, LOC129390679, LOC129390680, LOC129390681, LOC129390682, LOC129390683, LOC129390684, LOC129390685, LOC130056720, LOC130056721, LOC130056722, LOC130056723, LOC130056724, LOC130056725, LOC130056726, LOC130056727, LOC130056728, LOC130056729, LOC130056730, LOC130056731, LOC130056732, LOC130056733, LOC130056734, LOC130056735, LOC130056736, LOC130056737, LOC130056738, LOC130056739, LOC130056740, LOC130056741, LOC130056742, LOC130056743, LOC130056744, LOC130056745, LOC130056746, LOC130056747, LOC130056748, LOC130056749, LOC130056750, LOC130056751, LOC130056752, LOC130056753, LOC130056754, LOC130056755, LOC130056756, LOC130056757, LOC130056758, LOC130056759, LOC130056760, LOC130056761, LOC130056762, LOC130056763, LOC130056764, LOC130056765, LOC130056766, LOC130056767, LOC130056768, LOC130056769, LOC130056770, LOC130056771, LOC130056772, LOC130056773, LOC130056774, LOC130056775, LOC130056776, LOC130056777, LOC130056778, LOC130056779, LOC130056780, LOC130056781, LOC130056782, LOC130056783, LOC130056784, LOC130056785, LOC130056786, LOC130056787, LOC130056788, LOC130056789, LOC130056790, LOC130056791, LOC130056792, LOC130056793, LOC132090298, LOC132090299, LOC132090300, LOC132090301, LOC145845, LPCAT4, MAGEL2, MEIS2, MIR1233-1, MIR1233-2, MIR211, MIR3942, MIR4508, MIR4509-2, MIR4509-3, MIR4510, MIR4715, MIR8063, MKRN3, MTMR10, NANOGP8, NDN, NOP10, NPAP1, NSMCE3, NUTM1, OCA2, OTUD7A, PGBD4, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, PWRN3, PWRN4, RASGRP1, RYR3, RYR3-DT, SCG5, SCG5-AS1, SLC12A6, SNHG14, SNORD107, SNORD108, SNORD109A, SNORD109B, SNORD115-1, SNORD115-10, SNORD115-11, SNORD115-12, SNORD115-13, SNORD115-14, SNORD115-15, SNORD115-16, SNORD115-17, SNORD115-18, SNORD115-19, SNORD115-2, SNORD115-20, SNORD115-21, SNORD115-22, SNORD115-23, SNORD115-24, SNORD115-25, SNORD115-26, SNORD115-27, SNORD115-28, SNORD115-29, SNORD115-3, SNORD115-30, SNORD115-31, SNORD115-32, SNORD115-33, SNORD115-34, SNORD115-35, SNORD115-36, SNORD115-37, SNORD115-38, SNORD115-39, SNORD115-4, SNORD115-40, SNORD115-41, SNORD115-42, SNORD115-43, SNORD115-44, SNORD115-45, SNORD115-46, SNORD115-47, SNORD115-48, SNORD115-5, SNORD115-6, SNORD115-7, SNORD115-8, SNORD115-9, SNORD116-1, SNORD116-10, SNORD116-11, SNORD116-12, SNORD116-13, SNORD116-14, SNORD116-15, SNORD116-16, SNORD116-17, SNORD116-18, SNORD116-19, SNORD116-2, SNORD116-20, SNORD116-21, SNORD116-22, SNORD116-23, SNORD116-24, SNORD116-25, SNORD116-26, SNORD116-27, SNORD116-28, SNORD116-29, SNORD116-3, SNORD116-30, SNORD116-4, SNORD116-5, SNORD116-6, SNORD116-7, SNORD116-8, SNORD116-9, SNORD64, SNRPN, SNURF, SPRED1, TJP1, TMCO5A, TRE-TTC2-2, TRPM1, UBE3A, ZNF770		See cases	Pathogenic (Aug 13, 2012)	no assertion criteria provided
Select item 1467022.	GRCh38/hg38 15q11.2-14(chr15:23319714-38089582)x1 GRCh37: Chr15:22698522-38381783 GRCh38: Chr15:23319714-38089582	ACTC1, APBA2, AQR, ARHGAP11A, ARHGAP11A-DT, ARHGAP11A-SCG5, ARHGAP11B, ARHGAP11B-DT, ATP10A, ATP10A-DT, AVEN, CDIN1, CHRFAM7A, CHRM5, CHRNA7, DPH6, DPH6-DT, EMC4, EMC7, ENTREP2, FAN1, FMN1, GABRA5, GABRB3, GABRG3, GABRG3-AS1, GJD2, GJD2-DT, GOLGA6L2, GOLGA6L24, GOLGA6L25, GOLGA6L26, GOLGA6L7, GOLGA8A, GOLGA8B, GOLGA8F, GOLGA8G, GOLGA8H, GOLGA8J, GOLGA8K, GOLGA8M, GOLGA8N, GOLGA8O, GOLGA8Q, GOLGA8R, GOLGA8S, GOLGA8T, GREM1, GREM1-AS1, HERC2, IPW, KATNBL1, KLF13, LCIIAR, LINC00929, LINC01852, LINC02249, LINC02250, LINC02252, LINC02256, LINC02345, LINC02346, LINC02352, LINC02853, LINC03034, LOC105370764, LOC106736464, LOC106736465, LOC106736468, LOC106736469, LOC106736476, LOC106736477, LOC106736480, LOC106736481, LOC106783506, LOC108004527, LOC110120842, LOC110120858, LOC110120896, LOC110120905, LOC110120936, LOC110120937, LOC110121498, LOC112272578, LOC112272579, LOC112272580, LOC112272581, LOC112272582, LOC112272583, LOC113939943, LOC121530575, LOC121530576, LOC121847940, LOC121847941, LOC125078046, LOC125078047, LOC125078048, LOC125078049, LOC125078051, LOC125078052, LOC125078053, LOC125078054, LOC125078055, LOC125078056, LOC125078057, LOC125078058, LOC126862075, LOC126862076, LOC126862077, LOC126862078, LOC126862079, LOC126862080, LOC126862081, LOC126862082, LOC126862083, LOC126862084, LOC126862085, LOC126862086, LOC126862087, LOC126862088, LOC126862089, LOC126862090, LOC126862091, LOC126862092, LOC126862093, LOC126862094, LOC126862095, LOC126862096, LOC126862097, LOC126862098, LOC126862099, LOC126862100, LOC126862101, LOC126862102, LOC126862103, LOC126862104, LOC126862105, LOC127829159, LOC128772394, LOC128899998, LOC128899999, LOC129390675, LOC129390676, LOC129390677, LOC129390678, LOC129390679, LOC129390680, LOC129390681, LOC129390682, LOC129390683, LOC129390684, LOC130056720, LOC130056721, LOC130056722, LOC130056723, LOC130056724, LOC130056725, LOC130056726, LOC130056727, LOC130056728, LOC130056729, LOC130056730, LOC130056731, LOC130056732, LOC130056733, LOC130056734, LOC130056735, LOC130056736, LOC130056737, LOC130056738, LOC130056739, LOC130056740, LOC130056741, LOC130056742, LOC130056743, LOC130056744, LOC130056745, LOC130056746, LOC130056747, LOC130056748, LOC130056749, LOC130056750, LOC130056751, LOC130056752, LOC130056753, LOC130056754, LOC130056755, LOC130056756, LOC130056757, LOC130056758, LOC130056759, LOC130056760, LOC130056761, LOC130056762, LOC130056763, LOC130056764, LOC130056765, LOC130056766, LOC130056767, LOC130056768, LOC130056769, LOC130056770, LOC130056771, LOC130056772, LOC130056773, LOC130056774, LOC130056775, LOC130056776, LOC130056777, LOC130056778, LOC130056779, LOC130056780, LOC130056781, LOC132090298, LOC132090299, LOC132090300, LOC132090301, LOC145845, LPCAT4, MAGEL2, MEIS2, MIR1233-1, MIR1233-2, MIR211, MIR3942, MIR4508, MIR4509-2, MIR4509-3, MIR4510, MIR4715, MIR8063, MKRN3, MTMR10, NANOGP8, NDN, NOP10, NPAP1, NSMCE3, NUTM1, OCA2, OTUD7A, PGBD4, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, PWRN3, PWRN4, RYR3, RYR3-DT, SCG5, SCG5-AS1, SLC12A6, SNHG14, SNORD107, SNORD108, SNORD109A, SNORD109B, SNORD115-1, SNORD115-10, SNORD115-11, SNORD115-12, SNORD115-13, SNORD115-14, SNORD115-15, SNORD115-16, SNORD115-17, SNORD115-18, SNORD115-19, SNORD115-2, SNORD115-20, SNORD115-21, SNORD115-22, SNORD115-23, SNORD115-24, SNORD115-25, SNORD115-26, SNORD115-27, SNORD115-28, SNORD115-29, SNORD115-3, SNORD115-30, SNORD115-31, SNORD115-32, SNORD115-33, SNORD115-34, SNORD115-35, SNORD115-36, SNORD115-37, SNORD115-38, SNORD115-39, SNORD115-4, SNORD115-40, SNORD115-41, SNORD115-42, SNORD115-43, SNORD115-44, SNORD115-45, SNORD115-46, SNORD115-47, SNORD115-48, SNORD115-5, SNORD115-6, SNORD115-7, SNORD115-8, SNORD115-9, SNORD116-1, SNORD116-10, SNORD116-11, SNORD116-12, SNORD116-13, SNORD116-14, SNORD116-15, SNORD116-16, SNORD116-17, SNORD116-18, SNORD116-19, SNORD116-2, SNORD116-20, SNORD116-21, SNORD116-22, SNORD116-23, SNORD116-24, SNORD116-25, SNORD116-26, SNORD116-27, SNORD116-28, SNORD116-29, SNORD116-3, SNORD116-30, SNORD116-4, SNORD116-5, SNORD116-6, SNORD116-7, SNORD116-8, SNORD116-9, SNORD64, SNRPN, SNURF, TJP1, TMCO5A, TRE-TTC2-2, TRPM1, UBE3A, ZNF770		See cases	Pathogenic (Nov 30, 2009)	no assertion criteria provided
Select item 1551383.	GRCh38/hg38 15q11.2-14(chr15:25033869-37204304)x1 GRCh37: Chr15:25279016-37496505 GRCh38: Chr15:25033869-37204304	SNORD115-20, SNORD115-21, SNORD115-22, SNORD115-23, SNORD115-24, SNORD115-25, SNORD115-26, SNORD115-27, SNORD115-28, SNORD115-29, SNORD115-3, SNORD115-30, SNORD115-31, SNORD115-32, SNORD115-33, SNORD115-34, SNORD115-35, SNORD115-36, SNORD115-37, SNORD115-38, SNORD115-39, SNORD115-4, SNORD115-40, SNORD115-41, SNORD115-42, SNORD115-43, SNORD115-44, SNORD115-45, SNORD115-46, SNORD115-47, SNORD115-48, SNORD115-5, SNORD115-6, SNORD115-7, SNORD115-8, SNORD115-9, SNORD116-1, SNORD116-10, SNORD116-11, SNORD116-12, SNORD116-13, SNORD116-14, SNORD116-15, SNORD116-16, SNORD116-17, SNORD116-18, SNORD116-19, SNORD116-2, SNORD116-20, SNORD116-21, SNORD116-22, SNORD116-23, SNORD116-24, SNORD116-25, SNORD116-26, SNORD116-27, SNORD116-28, SNORD116-29, SNORD116-3, SNORD116-30, SNORD116-4, SNORD116-5, SNORD116-6, SNORD116-7, SNORD116-8, SNORD116-9, TJP1, TRE-TTC2-2, TRPM1, UBE3A, ZNF770, ACTC1, APBA2, AQR, ARHGAP11A, ARHGAP11A-DT, ARHGAP11A-SCG5, CDIN1, ARHGAP11B, ARHGAP11B-DT, ATP10A, ATP10A-DT, AVEN, CHRFAM7A, CHRM5, CHRNA7, DPH6, DPH6-DT, EMC4, EMC7, ENTREP2, FAN1, FMN1, GABRA5, GABRB3, GABRG3, GABRG3-AS1, GJD2, GJD2-DT, GOLGA6L24, GOLGA6L25, GOLGA6L7, GOLGA8A, GOLGA8B, GOLGA8F, GOLGA8G, GOLGA8H, GOLGA8J, GOLGA8K, GOLGA8M, GOLGA8N, GOLGA8O, GOLGA8Q, GOLGA8R, GOLGA8T, GREM1, GREM1-AS1, HERC2, IPW, KATNBL1, KLF13, LCIIAR, LINC00929, LINC02249, LINC02250, LINC02252, LINC02256, LINC02346, LINC02352, LINC02853, LINC03034, LOC105370764, LOC106736464, LOC106736465, LOC106736468, LOC106736469, LOC106736476, LOC106736477, LOC106736480, LOC106736481, LOC106783506, LOC108004527, LOC110120842, LOC110120858, LOC110120936, LOC110121498, LOC112272580, LOC112272581, LOC112272582, LOC112272583, LOC113939943, LOC121530575, LOC121530576, LOC121847941, LOC125078046, LOC125078047, LOC125078048, LOC125078049, LOC125078051, LOC125078052, LOC125078053, LOC125078054, LOC125078055, LOC125078056, LOC125078057, LOC126862076, LOC126862077, LOC126862078, LOC126862079, LOC126862080, LOC126862081, LOC126862082, LOC126862083, LOC126862084, LOC126862085, LOC126862086, LOC126862087, LOC126862088, LOC126862089, LOC126862090, LOC126862091, LOC126862092, LOC126862093, LOC126862094, LOC126862095, LOC126862096, LOC126862097, LOC126862098, LOC126862099, LOC126862100, LOC126862101, LOC126862102, LOC126862103, LOC126862104, LOC127829159, LOC128772394, LOC128899998, LOC128899999, LOC129390675, LOC129390676, LOC129390677, LOC129390678, LOC129390679, LOC129390680, LOC129390681, LOC129390682, LOC129390683, LOC129390684, LOC130056720, LOC130056721, LOC130056722, LOC130056723, LOC130056724, LOC130056725, LOC130056726, LOC130056727, LOC130056728, LOC130056729, LOC130056730, LOC130056731, LOC130056732, LOC130056733, LOC130056734, LOC130056735, LOC130056736, LOC130056737, LOC130056738, LOC130056739, LOC130056740, LOC130056741, LOC130056742, LOC130056743, LOC130056744, LOC130056745, LOC130056746, LOC130056747, LOC130056748, LOC130056749, LOC130056750, LOC130056751, LOC130056752, LOC130056753, LOC130056754, LOC130056755, LOC130056756, LOC130056757, LOC130056758, LOC130056759, LOC130056760, LOC130056761, LOC130056762, LOC130056763, LOC130056764, LOC130056765, LOC130056766, LOC130056767, LOC130056768, LOC130056769, LOC130056770, LOC130056771, LOC130056772, LOC130056773, LOC130056774, LOC130056775, LOC130056776, LOC130056777, LOC130056778, LOC130056779, LOC130056780, LOC132090298, LOC132090299, LOC132090300, LOC132090301, LOC145845, LPCAT4, MEIS2, MIR1233-1, MIR1233-2, MIR211, MIR3942, MIR4509-2, MIR4509-3, MIR4510, MIR4715, MIR8063, MTMR10, NANOGP8, NOP10, NSMCE3, NUTM1, OCA2, OTUD7A, PGBD4, PWAR1, PWAR4, PWAR6, RYR3, RYR3-DT, SCG5, SCG5-AS1, SLC12A6, SNHG14, SNORD109A, SNORD109B, SNORD115-1, SNORD115-10, SNORD115-11, SNORD115-12, SNORD115-13, SNORD115-14, SNORD115-15, SNORD115-16, SNORD115-17, SNORD115-18, SNORD115-19, SNORD115-2		See cases	Pathogenic (Jan 28, 2013)	no assertion criteria provided
Select item 578764.	GRCh38/hg38 15q13.3-14(chr15:32326136-39394068)x1 GRCh37: Chr15:32618337-39686269 GRCh38: Chr15:32326136-39394068	LOC132090301, LOC132090302, LOC145845, LPCAT4, MEIS2, MIR1233-1, MIR1233-2, MIR3942, MIR4510, MIR8063, NANOGP8, NOP10, NUTM1, PGBD4, RASGRP1, RYR3, RYR3-DT, SCG5, SCG5-AS1, SLC12A6, SPRED1, TMCO5A, ZNF770, ARHGAP11A-DT, ACTC1, AQR, ARHGAP11A, ARHGAP11A-SCG5, AVEN, CDIN1, CHRM5, DPH6, DPH6-DT, EMC4, EMC7, FAM98B, FMN1, GJD2, GJD2-DT, GOLGA8A, GOLGA8B, GOLGA8K, GOLGA8N, GOLGA8O, GREM1, GREM1-AS1, KATNBL1, LINC01852, LINC02252, LINC02256, LINC02345, LINC02694, LINC02853, LINC02915, LOC105370764, LOC105370781, LOC106736469, LOC106736481, LOC108004527, LOC110120842, LOC110120858, LOC110120896, LOC110120905, LOC110120936, LOC110120937, LOC112272583, LOC113939943, LOC121530575, LOC121530576, LOC121530577, LOC125078054, LOC125078055, LOC125078056, LOC125078057, LOC125078058, LOC125078059, LOC126862090, LOC126862091, LOC126862092, LOC126862093, LOC126862094, LOC126862095, LOC126862096, LOC126862097, LOC126862098, LOC126862099, LOC126862100, LOC126862101, LOC126862102, LOC126862103, LOC126862104, LOC126862105, LOC126862106, LOC126862107, LOC126862108, LOC126862109, LOC129390682, LOC129390683, LOC129390684, LOC129390685, LOC130056728, LOC130056729, LOC130056730, LOC130056731, LOC130056732, LOC130056733, LOC130056734, LOC130056735, LOC130056736, LOC130056737, LOC130056738, LOC130056739, LOC130056740, LOC130056741, LOC130056742, LOC130056743, LOC130056744, LOC130056745, LOC130056746, LOC130056747, LOC130056748, LOC130056749, LOC130056750, LOC130056751, LOC130056752, LOC130056753, LOC130056754, LOC130056755, LOC130056756, LOC130056757, LOC130056758, LOC130056759, LOC130056760, LOC130056761, LOC130056762, LOC130056763, LOC130056764, LOC130056765, LOC130056766, LOC130056767, LOC130056768, LOC130056769, LOC130056770, LOC130056771, LOC130056772, LOC130056773, LOC130056774, LOC130056775, LOC130056776, LOC130056777, LOC130056778, LOC130056779, LOC130056780, LOC130056781, LOC130056782, LOC130056783, LOC130056784, LOC130056785, LOC130056786, LOC130056787, LOC130056788, LOC130056789, LOC130056790, LOC130056791, LOC130056792, LOC130056793, LOC130056794, LOC130056795, LOC130056796, LOC130056797, LOC130056798, LOC130056799, LOC130056800, LOC130056801, LOC130056802, LOC130056803, LOC130056804, LOC130056805, LOC130056806, LOC132090300		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 574515.	GRCh38/hg38 15q13.3-14(chr15:32607298-35200429)x3 GRCh37: Chr15:32899499-35492630 GRCh38: Chr15:32607298-35200429	ACTC1, AQR, ARHGAP11A, ARHGAP11A-DT, ARHGAP11A-SCG5, AVEN, CHRM5, DPH6, EMC4, EMC7, FMN1, GJD2, GJD2-DT, GOLGA8A, GOLGA8B, GREM1, GREM1-AS1, KATNBL1, LINC02252, LOC105370764, LOC106736481, LOC108004527, LOC112272583, LOC113939943, LOC125078054, LOC125078055, LOC126862090, LOC126862091, LOC126862092, LOC126862093, LOC126862094, LOC126862095, LOC126862096, LOC126862097, LOC126862098, LOC126862099, LOC126862100, LOC126862101, LOC129390682, LOC129390683, LOC129390684, LOC130056728, LOC130056729, LOC130056730, LOC130056731, LOC130056732, LOC130056733, LOC130056734, LOC130056735, LOC130056736, LOC130056737, LOC130056738, LOC130056739, LOC130056740, LOC130056741, LOC130056742, LOC130056743, LOC130056744, LOC130056745, LOC130056746, LOC130056747, LOC130056748, LOC130056749, LOC130056750, LOC130056751, LOC130056752, LOC130056753, LOC130056754, LOC130056755, LOC130056756, LOC130056757, LOC130056758, LOC130056759, LOC130056760, LOC130056761, LOC130056762, LOC130056763, LOC130056764, LOC130056765, LOC130056766, LOC130056767, LOC132090300, LPCAT4, MIR1233-1, MIR1233-2, NANOGP8, NOP10, NUTM1, PGBD4, RYR3, RYR3-DT, SCG5, SCG5-AS1, SLC12A6, ZNF770		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 578776.	GRCh38/hg38 15q13.3-15.1(chr15:32635803-40233825)x1 GRCh37: Chr15:32928004-40526026 GRCh38: Chr15:32635803-40233825	ACTC1, AQR, ARHGAP11A, ARHGAP11A-SCG5, AVEN, BMF, BUB1B, BUB1B-PAK6, CDIN1, CHRM5, DPH6, DPH6-DT, EIF2AK4, EMC4, EMC7, FAM98B, FMN1, FSIP1, GJD2, GJD2-DT, GOLGA8A, GOLGA8B, GPR176, GPR176-DT, GREM1, GREM1-AS1, KATNBL1, LINC01852, LINC02252, LINC02345, LINC02694, LINC02853, LINC02915, LOC105370764, LOC105370781, LOC105370783, LOC105370787, LOC105370941, LOC108004527, LOC108353818, LOC110120842, LOC110120858, LOC110120896, LOC110120905, LOC110120936, LOC110120937, LOC110121409, LOC112272583, LOC112272584, LOC113939943, LOC121530575, LOC121530576, LOC121530577, LOC125078054, LOC125078055, LOC125078056, LOC125078057, LOC125078058, LOC125078059, LOC125078061, LOC125078062, LOC126862090, LOC126862091, LOC126862092, LOC126862093, LOC126862094, LOC126862095, LOC126862096, LOC126862097, LOC126862098, LOC126862099, LOC126862100, LOC126862101, LOC126862102, LOC126862103, LOC126862104, LOC126862105, LOC126862106, LOC126862107, LOC126862108, LOC126862109, LOC126862110, LOC126862111, LOC129390682, LOC129390683, LOC129390684, LOC129390685, LOC129390686, LOC129390687, LOC130056728, LOC130056729, LOC130056730, LOC130056731, LOC130056732, LOC130056733, LOC130056734, LOC130056735, LOC130056736, LOC130056737, LOC130056738, LOC130056739, LOC130056740, LOC130056741, LOC130056742, LOC130056743, LOC130056744, LOC130056745, LOC130056746, LOC130056747, LOC130056748, LOC130056749, LOC130056750, LOC130056751, LOC130056752, LOC130056753, LOC130056754, LOC130056755, LOC130056756, LOC130056757, LOC130056758, LOC130056759, LOC130056760, LOC130056761, LOC130056762, LOC130056763, LOC130056764, LOC130056765, LOC130056766, LOC130056767, LOC130056768, LOC130056769, LOC130056770, LOC130056771, LOC130056772, LOC130056773, LOC130056774, LOC130056775, LOC130056776, LOC130056777, LOC130056778, LOC130056779, LOC130056780, LOC130056781, LOC130056782, LOC130056783, LOC130056784, LOC130056785, LOC130056786, LOC130056787, LOC130056788, LOC130056789, LOC130056790, LOC130056791, LOC130056792, LOC130056793, LOC130056794, LOC130056795, LOC130056796, LOC130056797, LOC130056798, LOC130056799, LOC130056800, LOC130056801, LOC130056802, LOC130056803, LOC130056804, LOC130056805, LOC130056806, LOC130056807, LOC130056808, LOC130056809, LOC130056810, LOC130056811, LOC130056812, LOC130056813, LOC130056814, LOC130056815, LOC130056816, LOC130056817, LOC130056818, LOC130056819, LOC130056820, LOC130056821, LOC130056822, LOC130056823, LOC130056824, LOC130056825, LOC130056826, LOC130056827, LOC130056828, LOC130056829, LOC130056830, LOC130056831, LOC132090300, LOC132090301, LOC132090302, LOC145845, LPCAT4, MEIS2, MIR1233-1, MIR1233-2, MIR3942, MIR4510, MIR8063, NANOGP8, NOP10, NUTM1, PGBD4, RASGRP1, RYR3, RYR3-DT, SCG5, SCG5-AS1, SLC12A6, SPRED1, SRP14, SRP14-DT, THBS1, THBS1-IT1, TMCO5A, ZNF770		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 3155427.	NM_001365088.1(SLC12A6):c.*3842G>T GRCh37: Chr15:34522240 GRCh38: Chr15:34230039	EMC4, SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8844918.	NM_001365088.1(SLC12A6):c.*3828T>G GRCh37: Chr15:34522254 GRCh38: Chr15:34230053	EMC4, SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 26451479.	NM_001365088.1(SLC12A6):c.3821_3822del GRCh37: Chr15:34522260-34522261 GRCh38: Chr15:34230059-34230060	EMC4, SLC12A6		not provided	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 31554310.	NM_001365088.1(SLC12A6):c.3807_3808del GRCh37: Chr15:34522274-34522275 GRCh38: Chr15:34230073-34230074	EMC4, SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 88449211.	NM_001365088.1(SLC12A6):c.*3755T>C GRCh37: Chr15:34522327 GRCh38: Chr15:34230126	EMC4, SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31554412.	NM_001365088.1(SLC12A6):c.*3731dup GRCh37: Chr15:34522350-34522351 GRCh38: Chr15:34230149-34230150	EMC4, SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 88449313.	NM_001365088.1(SLC12A6):c.*3672A>G GRCh37: Chr15:34522410 GRCh38: Chr15:34230209	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31554514.	NM_001365088.1(SLC12A6):c.*3668T>A GRCh37: Chr15:34522414 GRCh38: Chr15:34230213	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31554615.	NM_001365088.1(SLC12A6):c.*3580G>T GRCh37: Chr15:34522502 GRCh38: Chr15:34230301	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31554716.	NM_001365088.1(SLC12A6):c.*3525C>T GRCh37: Chr15:34522557 GRCh38: Chr15:34230356	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31554817.	NM_001365088.1(SLC12A6):c.*3520C>G GRCh37: Chr15:34522562 GRCh38: Chr15:34230361	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31554918.	NM_001365088.1(SLC12A6):c.*3497C>T GRCh37: Chr15:34522585 GRCh38: Chr15:34230384	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88542719.	NM_001365088.1(SLC12A6):c.*3482C>G GRCh37: Chr15:34522600 GRCh38: Chr15:34230399	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31555020.	NM_001365088.1(SLC12A6):c.*3403G>A GRCh37: Chr15:34522679 GRCh38: Chr15:34230478	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31555121.	NM_001365088.1(SLC12A6):c.*3400C>T GRCh37: Chr15:34522682 GRCh38: Chr15:34230481	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31555222.	NM_001365088.1(SLC12A6):c.*3388G>C GRCh37: Chr15:34522694 GRCh38: Chr15:34230493	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31555323.	NM_001365088.1(SLC12A6):c.*3309del GRCh37: Chr15:34522773 GRCh38: Chr15:34230572	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 88644824.	NM_001365088.1(SLC12A6):c.*3219G>A GRCh37: Chr15:34522863 GRCh38: Chr15:34230662	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31555425.	NM_001365088.1(SLC12A6):c.*3162T>G GRCh37: Chr15:34522920 GRCh38: Chr15:34230719	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31555526.	NM_001365088.1(SLC12A6):c.*3139GTCT[1] GRCh37: Chr15:34522936-34522939 GRCh38: Chr15:34230735-34230738	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 31555627.	NM_001365088.1(SLC12A6):c.*3097G>C GRCh37: Chr15:34522985 GRCh38: Chr15:34230784	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88644928.	NM_001365088.1(SLC12A6):c.*3080G>C GRCh37: Chr15:34523002 GRCh38: Chr15:34230801	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31555729.	NM_001365088.1(SLC12A6):c.3039_3040insCT GRCh37: Chr15:34523042-34523043 GRCh38: Chr15:34230841-34230842	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 31555830.	NM_001365088.1(SLC12A6):c.*2909del GRCh37: Chr15:34523173 GRCh38: Chr15:34230972	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31555931.	NM_001365088.1(SLC12A6):c.*2901T>A GRCh37: Chr15:34523181 GRCh38: Chr15:34230980	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 88769632.	NM_001365088.1(SLC12A6):c.*2899A>T GRCh37: Chr15:34523183 GRCh38: Chr15:34230982	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31556033.	NM_001365088.1(SLC12A6):c.*2852T>C GRCh37: Chr15:34523230 GRCh38: Chr15:34231029	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88769734.	NM_001365088.1(SLC12A6):c.*2829G>A GRCh37: Chr15:34523253 GRCh38: Chr15:34231052	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 31556135.	NM_001365088.1(SLC12A6):c.*2804C>T GRCh37: Chr15:34523278 GRCh38: Chr15:34231077	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 88769836.	NM_001365088.1(SLC12A6):c.*2754G>A GRCh37: Chr15:34523328 GRCh38: Chr15:34231127	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31556237.	NM_001365088.1(SLC12A6):c.*2731G>A GRCh37: Chr15:34523351 GRCh38: Chr15:34231150	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31556338.	NM_001365088.1(SLC12A6):c.*2684A>G GRCh37: Chr15:34523398 GRCh38: Chr15:34231197	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88769939.	NM_001365088.1(SLC12A6):c.*2660C>G GRCh37: Chr15:34523422 GRCh38: Chr15:34231221	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31556440.	NM_001365088.1(SLC12A6):c.*2659A>G GRCh37: Chr15:34523423 GRCh38: Chr15:34231222	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31556541.	NM_001365088.1(SLC12A6):c.*2637A>G GRCh37: Chr15:34523445 GRCh38: Chr15:34231244	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31556642.	NM_001365088.1(SLC12A6):c.*2523C>T GRCh37: Chr15:34523559 GRCh38: Chr15:34231358	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31556743.	NM_001365088.1(SLC12A6):c.*2518dup GRCh37: Chr15:34523563-34523564 GRCh38: Chr15:34231362-34231363	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 31556944.	NM_001365088.1(SLC12A6):c.2516_2517insTC GRCh37: Chr15:34523565-34523566 GRCh38: Chr15:34231364-34231365	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31556845.	NM_001365088.1(SLC12A6):c.*2516dup GRCh37: Chr15:34523565-34523566 GRCh38: Chr15:34231364-34231365	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 88455246.	NM_001365088.1(SLC12A6):c.*2516T>C GRCh37: Chr15:34523566 GRCh38: Chr15:34231365	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31557047.	NM_001365088.1(SLC12A6):c.*2404C>T GRCh37: Chr15:34523678 GRCh38: Chr15:34231477	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88455348.	NM_001365088.1(SLC12A6):c.*2369C>T GRCh37: Chr15:34523713 GRCh38: Chr15:34231512	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31557149.	NM_001365088.1(SLC12A6):c.2358_2360del GRCh37: Chr15:34523722-34523724 GRCh38: Chr15:34231521-34231523	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 88455450.	NM_001365088.1(SLC12A6):c.*2346C>T GRCh37: Chr15:34523736 GRCh38: Chr15:34231535	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88455551.	NM_001365088.1(SLC12A6):c.*2342C>T GRCh37: Chr15:34523740 GRCh38: Chr15:34231539	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88548552.	NM_001365088.1(SLC12A6):c.*2311A>G GRCh37: Chr15:34523771 GRCh38: Chr15:34231570	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31557253.	NM_001365088.1(SLC12A6):c.*2289GAAA[3] GRCh37: Chr15:34523778-34523781 GRCh38: Chr15:34231577-34231580	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 88548654.	NM_001365088.1(SLC12A6):c.*2301G>T GRCh37: Chr15:34523781 GRCh38: Chr15:34231580	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31557355.	NM_001365088.1(SLC12A6):c.2289_2294del GRCh37: Chr15:34523788-34523793 GRCh38: Chr15:34231587-34231592	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31557556.	NM_001365088.1(SLC12A6):c.*2293G>A GRCh37: Chr15:34523789 GRCh38: Chr15:34231588	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31557457.	NM_001365088.1(SLC12A6):c.2289_2293del GRCh37: Chr15:34523789-34523793 GRCh38: Chr15:34231588-34231592	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31557658.	NM_001365088.1(SLC12A6):c.2289_2291del GRCh37: Chr15:34523791-34523793 GRCh38: Chr15:34231590-34231592	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 88548759.	NM_001365088.1(SLC12A6):c.*2289G>A GRCh37: Chr15:34523793 GRCh38: Chr15:34231592	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31557760.	NM_001365088.1(SLC12A6):c.*2261G>A GRCh37: Chr15:34523821 GRCh38: Chr15:34231620	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31557861.	NM_001365088.1(SLC12A6):c.*2220A>G GRCh37: Chr15:34523862 GRCh38: Chr15:34231661	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88548862.	NM_001365088.1(SLC12A6):c.*2139T>C GRCh37: Chr15:34523943 GRCh38: Chr15:34231742	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88548963.	NM_001365088.1(SLC12A6):c.*2129T>C GRCh37: Chr15:34523953 GRCh38: Chr15:34231752	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88651064.	NM_001365088.1(SLC12A6):c.*2127A>C GRCh37: Chr15:34523955 GRCh38: Chr15:34231754	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31557965.	NM_001365088.1(SLC12A6):c.*2088C>T GRCh37: Chr15:34523994 GRCh38: Chr15:34231793	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31558066.	NM_001365088.1(SLC12A6):c.*2039C>T GRCh37: Chr15:34524043 GRCh38: Chr15:34231842	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88651167.	NM_001365088.1(SLC12A6):c.*2029T>C GRCh37: Chr15:34524053 GRCh38: Chr15:34231852	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88651268.	NM_001365088.1(SLC12A6):c.*2017T>A GRCh37: Chr15:34524065 GRCh38: Chr15:34231864	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31558169.	NM_001365088.1(SLC12A6):c.1963_1964del GRCh37: Chr15:34524118-34524119 GRCh38: Chr15:34231917-34231918	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 31558270.	NM_001365088.1(SLC12A6):c.*1846C>G GRCh37: Chr15:34524236 GRCh38: Chr15:34232035	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31558371.	NM_001365088.1(SLC12A6):c.*1815C>T GRCh37: Chr15:34524267 GRCh38: Chr15:34232066	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88651372.	NM_001365088.1(SLC12A6):c.*1725G>A GRCh37: Chr15:34524357 GRCh38: Chr15:34232156	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31558473.	NM_001365088.1(SLC12A6):c.*1627T>C GRCh37: Chr15:34524455 GRCh38: Chr15:34232254	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88775574.	NM_001365088.1(SLC12A6):c.*1607G>T GRCh37: Chr15:34524475 GRCh38: Chr15:34232274	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31558575.	NM_001365088.1(SLC12A6):c.*1568G>A GRCh37: Chr15:34524514 GRCh38: Chr15:34232313	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31558676.	NM_001365088.1(SLC12A6):c.*1493G>A GRCh37: Chr15:34524589 GRCh38: Chr15:34232388	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31558777.	NM_001365088.1(SLC12A6):c.*1492T>C GRCh37: Chr15:34524590 GRCh38: Chr15:34232389	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31558878.	NM_001365088.1(SLC12A6):c.*1357C>T GRCh37: Chr15:34524725 GRCh38: Chr15:34232524	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 88775679.	NM_001365088.1(SLC12A6):c.*1249C>T GRCh37: Chr15:34524833 GRCh38: Chr15:34232632	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31558980.	NM_001365088.1(SLC12A6):c.*1234A>G GRCh37: Chr15:34524848 GRCh38: Chr15:34232647	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31559081.	NM_001365088.1(SLC12A6):c.*1211T>C GRCh37: Chr15:34524871 GRCh38: Chr15:34232670	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31559182.	NM_001365088.1(SLC12A6):c.*1201T>C GRCh37: Chr15:34524881 GRCh38: Chr15:34232680	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31559283.	NM_001365088.1(SLC12A6):c.*1195A>G GRCh37: Chr15:34524887 GRCh38: Chr15:34232686	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 88461384.	NM_001365088.1(SLC12A6):c.*1149C>G GRCh37: Chr15:34524933 GRCh38: Chr15:34232732	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 31559385.	NM_001365088.1(SLC12A6):c.*1130C>A GRCh37: Chr15:34524952 GRCh38: Chr15:34232751	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31559486.	NM_001365088.1(SLC12A6):c.*1098G>A GRCh37: Chr15:34524984 GRCh38: Chr15:34232783	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 31559587.	NM_001365088.1(SLC12A6):c.*1087C>A GRCh37: Chr15:34524995 GRCh38: Chr15:34232794	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31559688.	NM_001365088.1(SLC12A6):c.*1047A>G GRCh37: Chr15:34525035 GRCh38: Chr15:34232834	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88555189.	NM_001365088.1(SLC12A6):c.*987G>A GRCh37: Chr15:34525095 GRCh38: Chr15:34232894	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88555290.	NM_001365088.1(SLC12A6):c.*918G>C GRCh37: Chr15:34525164 GRCh38: Chr15:34232963	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88555391.	NM_001365088.1(SLC12A6):c.*912A>C GRCh37: Chr15:34525170 GRCh38: Chr15:34232969	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88555492.	NM_001365088.1(SLC12A6):c.*906G>C GRCh37: Chr15:34525176 GRCh38: Chr15:34232975	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88555593.	NM_001365088.1(SLC12A6):c.*879C>T GRCh37: Chr15:34525203 GRCh38: Chr15:34233002	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Feb 2, 2018)	criteria provided, single submitter
Select item 88555694.	NM_001365088.1(SLC12A6):c.*876G>A GRCh37: Chr15:34525206 GRCh38: Chr15:34233005	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31559795.	NM_001365088.1(SLC12A6):c.*826C>T GRCh37: Chr15:34525256 GRCh38: Chr15:34233055	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31559896.	NM_001365088.1(SLC12A6):c.*824T>C GRCh37: Chr15:34525258 GRCh38: Chr15:34233057	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88657397.	NM_001365088.1(SLC12A6):c.*762C>T GRCh37: Chr15:34525320 GRCh38: Chr15:34233119	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31559998.	NM_001365088.1(SLC12A6):c.*751T>C GRCh37: Chr15:34525331 GRCh38: Chr15:34233130	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31560099.	NM_001365088.1(SLC12A6):c.*719dup GRCh37: Chr15:34525362-34525363 GRCh38: Chr15:34233161-34233162	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 315601100.	NM_001365088.1(SLC12A6):c.*707G>A GRCh37: Chr15:34525375 GRCh38: Chr15:34233174	SLC12A6		Agenesis of the corpus callosum with peripheral neuropathy	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter

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