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Items: 1 to 100 of 127

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Aug 13, 2012)
no assertion criteria provided
2.
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 casesPathogenic
(Nov 30, 2009)
no assertion criteria provided
3.
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 casesPathogenic
(Jan 28, 2013)
no assertion criteria provided
4.
GRCh37:
Chr15:32618337-39686269
GRCh38:
Chr15:32326136-39394068
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
GRCh37:
Chr15:32928004-40526026
GRCh38:
Chr15:32635803-40233825
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
6.
GRCh37:
Chr15:34880216-39572605
GRCh38:
Chr15:34588015-39280404
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
7.
GRCh37:
Chr15:35287652-40027263
GRCh38:
Chr15:34995451-39735062
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
8.
GRCh37:
Chr15:36556618-38338165
GRCh38:
Chr15:36264417-38045964
See casesUncertain significance
(Feb 29, 2016)
no assertion criteria provided
9.
GRCh37:
Chr15:37184381
GRCh38:
Chr15:36892180
MEIS2A469V, A476VInborn genetic diseasesUncertain significance
(Apr 20, 2021)
criteria provided, single submitter
10.
GRCh37:
Chr15:37184392
GRCh38:
Chr15:36892191
MEIS2M465I, M472IInborn genetic diseasesLikely benign
(Oct 26, 2021)
criteria provided, single submitter
11.
GRCh37:
Chr15:37184443
GRCh38:
Chr15:36892242
MEIS2Q448H, Q455HInborn genetic diseasesUncertain significance
(Sep 19, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr15:37184484
GRCh38:
Chr15:36892283
MEIS2G435R, G442RInborn genetic diseasesUncertain significance
(Sep 29, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr15:37184536-37184537
GRCh38:
Chr15:36892335-36892336
MEIS2M425fs, M418fsInborn genetic diseasesUncertain significance
(Jul 23, 2021)
criteria provided, single submitter
14.
GRCh37:
Chr15:37184642
GRCh38:
Chr15:36892441
MEIS2G389A, G382AInborn genetic diseasesLikely benign
(Jul 26, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr15:37186993
GRCh38:
Chr15:36894792
MEIS2M295V, M383V, M390V, M370V, M377VCardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesUncertain significance
(Feb 12, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr15:37186996
GRCh38:
Chr15:36894795
MEIS2G294S, G369S, G376S, G382S, G389SCardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesUncertain significance
(Mar 13, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr15:37187005
GRCh38:
Chr15:36894804
MEIS2S291fs, S366fs, S373fs, S379fs, S386fsCardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesUncertain significance
(Mar 31, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr15:37187334
GRCh38:
Chr15:36895133
MEIS2Cardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesLikely benign
(Mar 27, 2021)
criteria provided, single submitter
19.
GRCh37:
Chr15:37187335
GRCh38:
Chr15:36895134
MEIS2Cardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesLikely benign
(Apr 21, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr15:37187370
GRCh38:
Chr15:36895169
MEIS2M282L, M364L, M370L, M377L, M357LCardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesUncertain significance
(Sep 8, 2021)
criteria provided, single submitter
21.
GRCh37:
Chr15:37187385
GRCh38:
Chr15:36895184
MEIS2D277fs, D352fs, D359fs, D365fs, D372fsCardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesUncertain significance
(May 6, 2021)
criteria provided, single submitter
22.
GRCh37:
Chr15:37187438
GRCh38:
Chr15:36895237
MEIS2S354N, S259N, S334N, S341N, S347Nnot specifiedUncertain significance
(Dec 2, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr15:37187457
GRCh38:
Chr15:36895256
MEIS2L335fs, L348fsCardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesUncertain significance
(Sep 14, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr15:37188834
GRCh38:
Chr15:36896633
MEIS2R331Q, R256Q, R344QCardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesUncertain significance
(Sep 24, 2021)
criteria provided, single submitter
25.
GRCh37:
Chr15:37188840
GRCh38:
Chr15:36896639
MEIS2S254*, S329*, S342*Cardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesLikely pathogenic
(Jul 15, 2021)
criteria provided, single submitter
26.
GRCh37:
Chr15:37188865-37188867
GRCh38:
Chr15:36896664-36896666
MEIS2R320del, R333del, R245delCardiac 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
27.
GRCh37:
Chr15:37188866
GRCh38:
Chr15:36896665
MEIS2R245S, R320S, R333SCardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesLikely pathogenic
(Sep 6, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr15:37188873
GRCh38:
Chr15:36896672
MEIS2R243K, R318K, R331KCardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesPathogenic
(Dec 21, 2020)
criteria provided, single submitter
29.
GRCh37:
Chr15:37188878
GRCh38:
Chr15:36896677
MEIS2N316K, N329K, N241Knot providedLikely pathogenic
(Aug 14, 2015)
criteria provided, single submitter
30.
GRCh37:
Chr15:37188879
GRCh38:
Chr15:36896678
MEIS2N241S, N316S, N329SCardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesLikely pathogenic
(Oct 19, 2020)
criteria provided, single submitter
31.
GRCh37:
Chr15:37188889
GRCh38:
Chr15:36896688
MEIS2not providedPathogenic
(Apr 10, 2017)
no assertion criteria provided
32.
GRCh37:
Chr15:37242523
GRCh38:
Chr15:36950322
MEIS2Cardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesPathogenic
(Sep 14, 2020)
criteria provided, single submitter
33.
GRCh37:
Chr15:37242529
GRCh38:
Chr15:36950328
MEIS2N237D, N312D, N325DCardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesLikely pathogenicno assertion criteria provided
34.
GRCh37:
Chr15:37242534
GRCh38:
Chr15:36950333
MEIS2V235G, V310G, V323GCardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesLikely pathogenic
(Apr 23, 2021)
criteria provided, single submitter
35.
GRCh37:
Chr15:37242537
GRCh38:
Chr15:36950336
MEIS2Q309L, Q322L, Q234Lnot providedLikely pathogenic
(Aug 3, 2017)
criteria provided, single submitter
36.
GRCh37:
Chr15:37242538
GRCh38:
Chr15:36950337
MEIS2Q234E, Q309E, Q322ECardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesLikely pathogenic
(Jan 1, 2019)
no assertion criteria provided
37.
GRCh37:
Chr15:37242563
GRCh38:
Chr15:36950362
MEIS2Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies, not providedLikely benign
(Nov 11, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr15:37242565-37242568
GRCh38:
Chr15:36950364-36950367
MEIS2L224fs, L299fs, L312fsCardiac malformation, cleft lip/palate, microcephaly, and digital anomalies, Inborn genetic diseasesPathogenic/Likely pathogenic
(Oct 5, 2021)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr15:37242586
GRCh38:
Chr15:36950385
MEIS2E218K, E293K, E306Knot provided, Cardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesLikely pathogenic
(Nov 15, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr15:37242587
GRCh38:
Chr15:36950386
MEIS2not providedLikely benign
(Oct 17, 2017)
criteria provided, single submitter
41.
GRCh37:
Chr15:37242595
GRCh38:
Chr15:36950394
MEIS2Y215N, Y290N, Y303NCardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesLikely pathogenic
(Sep 16, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr15:37242597
GRCh38:
Chr15:36950396
MEIS2P289L, P302L, P214Lnot providedLikely pathogenic
(Aug 3, 2017)
criteria provided, single submitter
43.
GRCh37:
Chr15:37242599
GRCh38:
Chr15:36950398
MEIS2H213Q, H288Q, H301QCardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesUncertain significance
(May 22, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr15:37329018
GRCh38:
Chr15:37036817
MEIS2Cardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesLikely benign
(Jun 1, 2021)
criteria provided, single submitter
45.
GRCh37:
Chr15:37329038
GRCh38:
Chr15:37036837
MEIS2A280P, A205P, A293PCardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesLikely pathogenic
(Apr 19, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr15:37329089-37329090
GRCh38:
Chr15:37036888-37036889
MEIS2R276fs, R263fs, R188fsCardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesPathogenic
(Oct 13, 2017)
no assertion criteria provided
47.
GRCh37:
Chr15:37329105
GRCh38:
Chr15:37036904
MEIS2Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies, not providedLikely benign
(Jul 26, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr15:37329106
GRCh38:
Chr15:37036905
MEIS2P182L, P257L, P270LInborn genetic diseasesUncertain significance
(Mar 25, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr15:37329134-37329138
GRCh38:
Chr15:37036933-37036937
MEIS2A172fs, A247fs, A260fsCardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesLikely pathogenic
(Apr 4, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr15:37329135
GRCh38:
Chr15:37036934
MEIS2Cardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesLikely benign
(Jan 8, 2021)
criteria provided, single submitter
51.
GRCh37:
Chr15:37329143
GRCh38:
Chr15:37036942
MEIS2S170G, S245G, S258Gnot providedUncertain significance
(Jul 14, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr15:37329155
GRCh38:
Chr15:37036954
MEIS2G166C, G254C, G241CInborn genetic diseasesUncertain significance
(May 26, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr15:37341038
GRCh38:
Chr15:37048837
MEIS2Cardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesUncertain significance
(Mar 21, 2021)
criteria provided, single submitter
54.
GRCh37:
Chr15:37349802
GRCh38:
Chr15:37057601
MEIS2not providedBenign
(Jan 10, 2019)
criteria provided, single submitter
55.
GRCh38:
Chr15:37077545-37133704
MEIS2Cardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesLikely pathogenic
(Aug 18, 2021)
criteria provided, single submitter
56.
GRCh37:
Chr15:37375970
GRCh38:
Chr15:37083769
MEIS2not providedLikely pathogenic
(Jul 28, 2020)
criteria provided, single submitter
57.
GRCh37:
Chr15:37375975
GRCh38:
Chr15:37083774
MEIS2Q163*, Q238*, Q251*Cardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesPathogenic
(Dec 6, 2021)
criteria provided, single submitter
58.
GRCh37:
Chr15:37375984
GRCh38:
Chr15:37083783
MEIS2S160G, S248G, S235GInborn genetic diseasesUncertain significance
(May 6, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr15:37375993
GRCh38:
Chr15:37083792
MEIS2G157R, G232R, G245RCardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesUncertain significance
(Aug 24, 2021)
criteria provided, single submitter
60.
GRCh37:
Chr15:37375994
GRCh38:
Chr15:37083793
MEIS2Cardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesBenign
(Jul 12, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr15:37376010
GRCh38:
Chr15:37083809
MEIS2G239fs, G151fs, G226fsnot providedLikely pathogenic
(Jan 1, 2020)
criteria provided, single submitter
62.
GRCh37:
Chr15:37376039
GRCh38:
Chr15:37083838
MEIS2Cardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesLikely benign
(Dec 31, 2019)
criteria provided, single submitter
63.
GRCh37:
Chr15:37376069
GRCh38:
Chr15:37083868
MEIS2Cardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesLikely benign
(May 20, 2019)
criteria provided, single submitter
64.
GRCh37:
Chr15:37376071
GRCh38:
Chr15:37083870
MEIS2R131*, R206*, R219*not providedPathogenic
(Jul 11, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr15:37376074-37376076
GRCh38:
Chr15:37083873-37083875
MEIS2S204del, S129del, S217delInborn genetic diseasesUncertain significance
(Nov 30, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr15:37385781
GRCh38:
Chr15:37093580
MEIS2Cardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesPathogenic
(Dec 19, 2022)
no assertion criteria provided
67.
GRCh37:
Chr15:37385791
GRCh38:
Chr15:37093590
MEIS2not provided, Cardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesBenign
(Feb 24, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr15:37385810
GRCh38:
Chr15:37093609
MEIS2S204*, S191*, S116*Cardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesPathogenic
(Dec 19, 2022)
no assertion criteria provided
69.
GRCh37:
Chr15:37385811
GRCh38:
Chr15:37093610
MEIS2S116A, S191A, S204ACardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesUncertain significance
(Nov 18, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr15:37385814
GRCh38:
Chr15:37093613
MEIS2L115I, L190I, L203ICardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesUncertain significance
(Jan 11, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr15:37385818
GRCh38:
Chr15:37093617
MEIS2Cardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesLikely benign
(Feb 17, 2020)
criteria provided, single submitter
72.
GRCh37:
Chr15:37385841
GRCh38:
Chr15:37093640
MEIS2G106S, G181S, G194SCardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesBenign
(May 8, 2020)
criteria provided, single submitter
73.
GRCh37:
Chr15:37385842
GRCh38:
Chr15:37093641
MEIS2Cardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesLikely benign
(Sep 13, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr15:37385843-37385845
GRCh38:
Chr15:37093642-37093644
MEIS2Cardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesUncertain significance
(Sep 17, 2021)
criteria provided, single submitter
75.
GRCh37:
Chr15:37385847
GRCh38:
Chr15:37093646
MEIS2R104G, R179G, R192Gnot providedUncertain significance
(May 4, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr15:37385860
GRCh38:
Chr15:37093659
MEIS2not providedLikely benign
(Mar 29, 2018)
criteria provided, single submitter
77.
GRCh37:
Chr15:37385901
GRCh38:
Chr15:37093700
MEIS2R161*, R174*, R86*not providedPathogenic
(Sep 14, 2018)
criteria provided, single submitter
78.
GRCh37:
Chr15:37385914
GRCh38:
Chr15:37093713
MEIS2Cardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesBenign
(Aug 9, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr15:37385916
GRCh38:
Chr15:37093715
MEIS2D156N, D169N, D81NCardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesUncertain significance
(Aug 31, 2021)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr15:37385926
GRCh38:
Chr15:37093725
MEIS2Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies, not providedLikely benign
(Oct 22, 2018)
criteria provided, single submitter
81.
GRCh37:
Chr15:37385938
GRCh38:
Chr15:37093737
MEIS2Cardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesLikely benign
(Mar 9, 2020)
criteria provided, single submitter
82.
GRCh37:
Chr15:37386746
GRCh38:
Chr15:37094545
MEIS2Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies, not providedLikely benign
(Sep 15, 2021)
criteria provided, single submitter
83.
GRCh37:
Chr15:37386757
GRCh38:
Chr15:37094556
MEIS2L154I, L66I, L141IInborn genetic diseasesUncertain significance
(Jun 27, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr15:37387749
GRCh38:
Chr15:37095548
MEIS2Cardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesLikely benign
(Jul 17, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr15:37387760
GRCh38:
Chr15:37095559
MEIS2not providedUncertain significance
(Jun 20, 2021)
criteria provided, single submitter
86.
GRCh37:
Chr15:37387779
GRCh38:
Chr15:37095578
MEIS2E129*, E142*, E54*not providedPathogenic
(Oct 22, 2018)
criteria provided, single submitter
87.
GRCh37:
Chr15:37387827-37387828
GRCh38:
Chr15:37095626-37095627
MEIS2Cardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesBenign
(Mar 14, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr15:37388484
GRCh38:
Chr15:37096283
MEIS2Cardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
89.
GRCh37:
Chr15:37388550
GRCh38:
Chr15:37096349
MEIS2Cardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesLikely benign
(Apr 29, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr15:37388648
GRCh38:
Chr15:37096447
MEIS2Cardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesLikely benign
(Mar 11, 2021)
criteria provided, single submitter
91.
GRCh37:
Chr15:37390176
GRCh38:
Chr15:37097975
MEIS2not provided, Cardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesLikely benign
(Jul 3, 2018)
criteria provided, single submitter
92.
GRCh37:
Chr15:37390177
GRCh38:
Chr15:37097976
MEIS2A66G, A79GCardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesUncertain significance
(Jun 24, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr15:37390193
GRCh38:
Chr15:37097992
MEIS2K74Q, K61QInborn genetic diseasesUncertain significance
(Sep 16, 2021)
criteria provided, single submitter
94.
GRCh37:
Chr15:37390211
GRCh38:
Chr15:37098010
MEIS2A68S, A55SCardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesBenign
(Jul 29, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr15:37390246
GRCh38:
Chr15:37098045
MEIS2P56Q, P43QCardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesUncertain significance
(Jun 26, 2018)
criteria provided, single submitter
96.
GRCh37:
Chr15:37390263
GRCh38:
Chr15:37098062
MEIS2not provided, Cardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesLikely benign
(Sep 11, 2021)
criteria provided, single submitter
97.
GRCh37:
Chr15:37390271
GRCh38:
Chr15:37098070
MEIS2T35A, T48ACardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesUncertain significance
(Aug 20, 2021)
criteria provided, single submitter
98.
GRCh37:
Chr15:37390280
GRCh38:
Chr15:37098079
MEIS2L32V, L45VCardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesUncertain significance
(Jun 11, 2021)
criteria provided, single submitter
99.
GRCh37:
Chr15:37390293
GRCh38:
Chr15:37098092
MEIS2Cardiac malformation, cleft lip/palate, microcephaly, and digital anomaliesLikely benign
(May 8, 2021)
criteria provided, single submitter
100.
GRCh37:
Chr15:37390308-37390309
GRCh38:
Chr15:37098107-37098108
MEIS2V23fs, V36fsnot providedPathogenic
(Oct 4, 2022)
criteria provided, single submitter
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