| - GRCh37:
- Chr15:22765628-38837526
- GRCh38:
- Chr15:23319714-38545325
| 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, SNORD115@, 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, 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, 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, LOC100996413, 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, 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 | | See cases | Pathogenic (Aug 13, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr15:22698522-38381783
- GRCh38:
- Chr15:23319714-38089582
| 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, LOC145845, LPCAT4, MAGEL2, MEIS2, MIR1233-1, MIR1233-2, MIR211, MIR3942, MIR4508, MIR4509-2, MIR4509-3, MIR4510, MIR4715, MIR8063, MKRN3, MTMR10, NANOGP8, OCA2, NDN, NOP10, NPAP1, NSMCE3, NUTM1, 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, SNORD115@, 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, ACTC1, APBA2, AQR, ARHGAP11A, ARHGAP11A-DT, ARHGAP11A-SCG5, ARHGAP11B, ARHGAP11B-DT, ENTREP2, ATP10A, ATP10A-DT, AVEN, CDIN1, CHRFAM7A, CHRM5, CHRNA7, DPH6, DPH6-DT, EMC4, EMC7, 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, LOC100996413, LOC106736464, LOC106736465, LOC106736468, LOC106736469, LOC106736476, LOC106736477, LOC106736480 | | See cases | Pathogenic (Nov 30, 2009) | no assertion criteria provided |
| - GRCh37:
- Chr15:25279016-37496505
- GRCh38:
- Chr15:25033869-37204304
| 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, 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, LOC100996413, 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, 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, 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, SNORD115@, 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 | | See cases | Pathogenic (Jan 28, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr15:32618337-39686269
- GRCh38:
- Chr15:32326136-39394068
| ACTC1, AQR, ARHGAP11A, ARHGAP11A-DT, 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, 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, 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 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - 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, 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, 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, TMCO5A, ZNF770 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr15:34880216-39572605
- GRCh38:
- Chr15:34588015-39280404
| ACTC1, AQR, CDIN1, DPH6, DPH6-DT, FAM98B, GJD2, GJD2-DT, LINC01852, LINC02252, LINC02345, LINC02694, LINC02853, LINC02915, LOC108004527, LOC110120842, LOC110120858, LOC110120896, LOC110120905, LOC110120936, LOC110120937, LOC112272583, LOC113939943, LOC121530575, LOC121530576, LOC125078055, LOC125078056, LOC125078057, LOC125078058, LOC125078059, LOC126862099, LOC126862100, LOC126862101, LOC126862102, LOC126862103, LOC126862104, LOC126862105, LOC126862106, LOC126862107, LOC126862108, LOC126862109, LOC145845, MEIS2, MIR3942, MIR4510, MIR8063, NANOGP8, RASGRP1, SPRED1, TMCO5A, ZNF770 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr15:35287652-40027263
- GRCh38:
- Chr15:34995451-39735062
| CDIN1, DPH6, DPH6-DT, FAM98B, FSIP1, LINC01852, LINC02345, LINC02694, LINC02853, LINC02915, LOC108353818, LOC110120842, LOC110120858, LOC110120896, LOC110120905, LOC110120936, LOC110120937, LOC121530575, LOC121530576, LOC121530577, LOC125078056, LOC125078057, LOC125078058, LOC125078059, LOC125078061, LOC126862102, LOC126862103, LOC126862104, LOC126862105, LOC126862106, LOC126862107, LOC126862108, LOC126862109, LOC126862110, LOC126862111, LOC145845, MEIS2, MIR3942, MIR4510, MIR8063, NANOGP8, RASGRP1, SPRED1, THBS1, TMCO5A | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr15:36556618-38338165
- GRCh38:
- Chr15:36264417-38045964
| CDIN1, LINC02345, LOC110120842, LOC110120858, LOC110120896, LOC110120905, LOC110120936, LOC110120937, LOC121530576, LOC125078057, LOC125078058, LOC126862104, LOC126862105, LOC145845, MEIS2, MIR8063, TMCO5A | | See cases | Uncertain significance (Feb 29, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr15:37184381
- GRCh38:
- Chr15:36892180
| MEIS2 | A469V, A476V | Inborn genetic diseases | Uncertain significance (Apr 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37184392
- GRCh38:
- Chr15:36892191
| MEIS2 | M465I, M472I | Inborn genetic diseases | Likely benign (Oct 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37184443
- GRCh38:
- Chr15:36892242
| MEIS2 | Q448H, Q455H | Inborn genetic diseases | Uncertain significance (Sep 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37184484
- GRCh38:
- Chr15:36892283
| MEIS2 | G435R, G442R | Inborn genetic diseases | Uncertain significance (Sep 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37184536-37184537
- GRCh38:
- Chr15:36892335-36892336
| MEIS2 | M425fs, M418fs | Inborn genetic diseases | Uncertain significance (Jul 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37184642
- GRCh38:
- Chr15:36892441
| MEIS2 | G389A, G382A | Inborn genetic diseases | Likely benign (Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37186993
- GRCh38:
- Chr15:36894792
| MEIS2 | M295V, M383V, M390V, M370V, M377V | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Uncertain significance (Feb 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37186996
- GRCh38:
- Chr15:36894795
| MEIS2 | G294S, G369S, G376S, G382S, G389S | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Uncertain significance (Mar 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37187005
- GRCh38:
- Chr15:36894804
| MEIS2 | S291fs, S366fs, S373fs, S379fs, S386fs | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Uncertain significance (Mar 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37187334
- GRCh38:
- Chr15:36895133
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely benign (Mar 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37187335
- GRCh38:
- Chr15:36895134
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely benign (Apr 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37187370
- GRCh38:
- Chr15:36895169
| MEIS2 | M282L, M364L, M370L, M377L, M357L | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Uncertain significance (Sep 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37187385
- GRCh38:
- Chr15:36895184
| MEIS2 | D277fs, D352fs, D359fs, D365fs, D372fs | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Uncertain significance (May 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37187438
- GRCh38:
- Chr15:36895237
| MEIS2 | S354N, S259N, S334N, S341N, S347N | not specified | Uncertain significance (Dec 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37187457
- GRCh38:
- Chr15:36895256
| MEIS2 | L335fs, L348fs | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Uncertain significance (Sep 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37188834
- GRCh38:
- Chr15:36896633
| MEIS2 | R331Q, R256Q, R344Q | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Uncertain significance (Sep 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37188840
- GRCh38:
- Chr15:36896639
| MEIS2 | S254*, S329*, S342* | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely pathogenic (Jul 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37188865-37188867
- GRCh38:
- Chr15:36896664-36896666
| MEIS2 | R320del, R333del, R245del | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies, Inborn genetic diseases, not provided
| Pathogenic/Likely pathogenic (Nov 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:37188866
- GRCh38:
- Chr15:36896665
| MEIS2 | R245S, R320S, R333S | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely pathogenic (Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37188873
- GRCh38:
- Chr15:36896672
| MEIS2 | R243K, R318K, R331K | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Pathogenic (Dec 21, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37188878
- GRCh38:
- Chr15:36896677
| MEIS2 | N316K, N329K, N241K | not provided | Likely pathogenic (Aug 14, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37188879
- GRCh38:
- Chr15:36896678
| MEIS2 | N241S, N316S, N329S | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely pathogenic (Oct 19, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37188889
- GRCh38:
- Chr15:36896688
| MEIS2 | | not provided | Pathogenic (Apr 10, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr15:37242523
- GRCh38:
- Chr15:36950322
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Pathogenic (Sep 14, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37242529
- GRCh38:
- Chr15:36950328
| MEIS2 | N237D, N312D, N325D | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr15:37242534
- GRCh38:
- Chr15:36950333
| MEIS2 | V235G, V310G, V323G | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely pathogenic (Apr 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37242537
- GRCh38:
- Chr15:36950336
| MEIS2 | Q309L, Q322L, Q234L | not provided | Likely pathogenic (Aug 3, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37242538
- GRCh38:
- Chr15:36950337
| MEIS2 | Q234E, Q309E, Q322E | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely pathogenic (Jan 1, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr15:37242563
- GRCh38:
- Chr15:36950362
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies, not provided | Likely benign (Nov 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37242565-37242568
- GRCh38:
- Chr15:36950364-36950367
| MEIS2 | L224fs, L299fs, L312fs | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies, Inborn genetic diseases | Pathogenic/Likely pathogenic (Oct 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:37242586
- GRCh38:
- Chr15:36950385
| MEIS2 | E218K, E293K, E306K | not provided, Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely pathogenic (Nov 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:37242587
- GRCh38:
- Chr15:36950386
| MEIS2 | | not provided | Likely benign (Oct 17, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37242595
- GRCh38:
- Chr15:36950394
| MEIS2 | Y215N, Y290N, Y303N | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely pathogenic (Sep 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37242597
- GRCh38:
- Chr15:36950396
| MEIS2 | P289L, P302L, P214L | not provided | Likely pathogenic (Aug 3, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37242599
- GRCh38:
- Chr15:36950398
| MEIS2 | H213Q, H288Q, H301Q | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Uncertain significance (May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37329018
- GRCh38:
- Chr15:37036817
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely benign (Jun 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37329038
- GRCh38:
- Chr15:37036837
| MEIS2 | A280P, A205P, A293P | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely pathogenic (Apr 19, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37329089-37329090
- GRCh38:
- Chr15:37036888-37036889
| MEIS2 | R276fs, R263fs, R188fs | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Pathogenic (Oct 13, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr15:37329105
- GRCh38:
- Chr15:37036904
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies, not provided | Likely benign (Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37329106
- GRCh38:
- Chr15:37036905
| MEIS2 | P182L, P257L, P270L | Inborn genetic diseases | Uncertain significance (Mar 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37329134-37329138
- GRCh38:
- Chr15:37036933-37036937
| MEIS2 | A172fs, A247fs, A260fs | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely pathogenic (Apr 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37329135
- GRCh38:
- Chr15:37036934
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely benign (Jan 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37329143
- GRCh38:
- Chr15:37036942
| MEIS2 | S170G, S245G, S258G | not provided | Uncertain significance (Jul 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37329155
- GRCh38:
- Chr15:37036954
| MEIS2 | G166C, G254C, G241C | Inborn genetic diseases | Uncertain significance (May 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37341038
- GRCh38:
- Chr15:37048837
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Uncertain significance (Mar 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37349802
- GRCh38:
- Chr15:37057601
| MEIS2 | | not provided | Benign (Jan 10, 2019) | criteria provided, single submitter |
| - GRCh38:
- Chr15:37077545-37133704
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely pathogenic (Aug 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37375970
- GRCh38:
- Chr15:37083769
| MEIS2 | | not provided | Likely pathogenic (Jul 28, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37375975
- GRCh38:
- Chr15:37083774
| MEIS2 | Q163*, Q238*, Q251* | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Pathogenic (Dec 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37375984
- GRCh38:
- Chr15:37083783
| MEIS2 | S160G, S248G, S235G | Inborn genetic diseases | Uncertain significance (May 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37375993
- GRCh38:
- Chr15:37083792
| MEIS2 | G157R, G232R, G245R | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Uncertain significance (Aug 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37375994
- GRCh38:
- Chr15:37083793
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Benign (Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37376010
- GRCh38:
- Chr15:37083809
| MEIS2 | G239fs, G151fs, G226fs | not provided | Likely pathogenic (Jan 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37376039
- GRCh38:
- Chr15:37083838
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37376069
- GRCh38:
- Chr15:37083868
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely benign (May 20, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37376071
- GRCh38:
- Chr15:37083870
| MEIS2 | R131*, R206*, R219* | not provided | Pathogenic (Jul 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37376074-37376076
- GRCh38:
- Chr15:37083873-37083875
| MEIS2 | S204del, S129del, S217del | Inborn genetic diseases | Uncertain significance (Nov 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37385781
- GRCh38:
- Chr15:37093580
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Pathogenic (Dec 19, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr15:37385791
- GRCh38:
- Chr15:37093590
| MEIS2 | | not provided, Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Benign (Feb 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37385810
- GRCh38:
- Chr15:37093609
| MEIS2 | S204*, S191*, S116* | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Pathogenic (Dec 19, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr15:37385811
- GRCh38:
- Chr15:37093610
| MEIS2 | S116A, S191A, S204A | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Uncertain significance (Nov 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37385814
- GRCh38:
- Chr15:37093613
| MEIS2 | L115I, L190I, L203I | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Uncertain significance (Jan 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37385818
- GRCh38:
- Chr15:37093617
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely benign (Feb 17, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37385841
- GRCh38:
- Chr15:37093640
| MEIS2 | G106S, G181S, G194S | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Benign (May 8, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37385842
- GRCh38:
- Chr15:37093641
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely benign (Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37385843-37385845
- GRCh38:
- Chr15:37093642-37093644
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Uncertain significance (Sep 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37385847
- GRCh38:
- Chr15:37093646
| MEIS2 | R104G, R179G, R192G | not provided | Uncertain significance (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37385860
- GRCh38:
- Chr15:37093659
| MEIS2 | | not provided | Likely benign (Mar 29, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37385901
- GRCh38:
- Chr15:37093700
| MEIS2 | R161*, R174*, R86* | not provided | Pathogenic (Sep 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37385914
- GRCh38:
- Chr15:37093713
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Benign (Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37385916
- GRCh38:
- Chr15:37093715
| MEIS2 | D156N, D169N, D81N | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Uncertain significance (Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:37385926
- GRCh38:
- Chr15:37093725
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies, not provided | Likely benign (Oct 22, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37385938
- GRCh38:
- Chr15:37093737
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely benign (Mar 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37386746
- GRCh38:
- Chr15:37094545
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies, not provided | Likely benign (Sep 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37386757
- GRCh38:
- Chr15:37094556
| MEIS2 | L154I, L66I, L141I | Inborn genetic diseases | Uncertain significance (Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37387749
- GRCh38:
- Chr15:37095548
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely benign (Jul 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37387760
- GRCh38:
- Chr15:37095559
| MEIS2 | | not provided | Uncertain significance (Jun 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37387779
- GRCh38:
- Chr15:37095578
| MEIS2 | E129*, E142*, E54* | not provided | Pathogenic (Oct 22, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37387827-37387828
- GRCh38:
- Chr15:37095626-37095627
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Benign (Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37388484
- GRCh38:
- Chr15:37096283
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37388550
- GRCh38:
- Chr15:37096349
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely benign (Apr 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37388648
- GRCh38:
- Chr15:37096447
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely benign (Mar 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37390176
- GRCh38:
- Chr15:37097975
| MEIS2 | | not provided, Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely benign (Jul 3, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37390177
- GRCh38:
- Chr15:37097976
| MEIS2 | A66G, A79G | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Uncertain significance (Jun 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37390193
- GRCh38:
- Chr15:37097992
| MEIS2 | K74Q, K61Q | Inborn genetic diseases | Uncertain significance (Sep 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37390211
- GRCh38:
- Chr15:37098010
| MEIS2 | A68S, A55S | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Benign (Jul 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37390246
- GRCh38:
- Chr15:37098045
| MEIS2 | P56Q, P43Q | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Uncertain significance (Jun 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37390263
- GRCh38:
- Chr15:37098062
| MEIS2 | | not provided, Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely benign (Sep 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37390271
- GRCh38:
- Chr15:37098070
| MEIS2 | T35A, T48A | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Uncertain significance (Aug 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37390280
- GRCh38:
- Chr15:37098079
| MEIS2 | L32V, L45V | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Uncertain significance (Jun 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37390293
- GRCh38:
- Chr15:37098092
| MEIS2 | | Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | Likely benign (May 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:37390308-37390309
- GRCh38:
- Chr15:37098107-37098108
| MEIS2 | V23fs, V36fs | not provided | Pathogenic (Oct 4, 2022) | criteria provided, single submitter |