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Items: 69

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr15:22765628-38837526
GRCh38:
Chr15:23319714-38545325
ACTC1, APBA2, CHRM5, CHRNA7, GABRA5, GABRB3, GABRG3, IPW, MEIS2, TRPM1, NDN, OCA2, RYR3, SCG5, SNRPN, TJP1, UBE3A, MKRN3, PWAR5, HERC2, SNURF, AQR, ARHGAP11A, SLC12A6, RASGRP1, FAN1, GOLGA8A, FAM189A1, NPAP1, LINC02249, GREM1, EMC4, KLF13, MAGEL2, MTMR10, ZNF770, NOP10, NSMCE3, EMC7, AVEN, ATP10A, GJD2, KATNBL1, CDIN1, CHRFAM7A, ARHGAP11B, DPH6, SNORD107, PWAR1, LOC145845, TMCO5A, OTUD7A, SPRED1, PGBD4, LPCAT4, NUTM1, GOLGA6L2, LOC283710, FAM98B, GOLGA8G, SNORD108, SNORD109A, SNORD109B, SNORD115-1, FMN1, SNORD64, PWAR4, PWARSN, NANOGP8, MIR211, GOLGA8B, LINC00929, GOLGA8N, LOC645202, GOLGA8S, GOLGA8J, GOLGA8T, GOLGA8K, GOLGA8M, SNORD115@, SNORD116@, SNORD116-19, GOLGA8Q, GOLGA8O, GOLGA6L7, GOLGA8H, PWRN1, PWRN2, SNORD116-1, SNORD116-2, SNORD116-3, SNORD116-4, SNORD116-5, SNORD116-6, SNORD116-7, SNORD116-8, SNORD116-9, SNORD116-10, SNORD116-11, SNORD116-12, SNORD116-13, SNORD116-14, SNORD116-15, SNORD116-16, SNORD116-17, SNORD116-18, SNORD116-20, SNORD116-21, SNORD116-22, SNORD116-23, SNORD116-24, SNORD116-25, SNORD115-2, SNORD116-26, SNORD116-27, SNORD115-3, SNORD115-4, SNORD115-5, SNORD115-6, SNORD115-7, SNORD115-8, SNORD115-9, SNORD115-10, SNORD115-11, SNORD115-12, SNORD115-13, SNORD115-14, SNORD115-15, SNORD115-16, SNORD115-17, SNORD115-18, SNORD115-19, SNORD115-20, SNORD115-21, SNORD115-22, SNORD115-23, SNORD115-25, SNORD115-26, SNORD115-29, SNORD115-30, SNORD115-31, SNORD115-32, SNORD115-33, SNORD115-34, SNORD115-35, SNORD115-36, SNORD115-37, SNORD115-38, SNORD115-39, SNORD115-40, SNORD115-41, SNORD115-42, SNORD115-43, SNORD115-44, SNORD116-28, SNORD116-29, SNORD115-48, SNORD115-24, SNORD115-27, SNORD115-28, SNORD115-45, SNORD115-47, LINC02346, LOC100130111, GREM1-AS1, LOC100132202, GOLGA8F, TRE-TTC2-2, MIR1233-1, MIR1233-2, MIR3942, PWAR6, DPH6-DT, LINC02853, MIR4509-2, MIR4508, MIR4510, MIR4509-3, MIR4715, SNORD116-30, SNORD115-46, LINC02256, LOC100996413, GOLGA8R, LOC101928042, RYR3-DT, GJD2-DT, LINC02345, PWRN3, GABRG3-AS1, MIR8063, LOC102723623, ARHGAP11B-DT, LINC02352, SNHG14, PWRN4, LINC02250, ATP10A-DT, SCG5-AS1, LINC02252, LOC106736464, LOC106736465, LOC106736468, LOC106736469, LOC106736476, LOC106736477, LOC106736480, LOC106736481, LOC106783506, LINC01852, LOC108004527, LOC110120842, LOC110120858, LOC110120896, LOC110120905, LOC110120936, LOC110120937, LOC110121498, LOC112272578, LOC112272579, LOC112272580, LOC112272581, LOC112272582, LOC112272583, LOC113939943, ARHGAP11A-SCG5
See casesPathogenic
(Aug 13, 2012)
no assertion criteria providedVCV000149530
2.
GRCh37:
Chr15:22698522-38381783
GRCh38:
Chr15:23319714-38089582
ACTC1, APBA2, CHRM5, CHRNA7, GABRA5, GABRB3, GABRG3, IPW, MEIS2, TRPM1, NDN, OCA2, RYR3, SCG5, SNRPN, TJP1, UBE3A, MKRN3, PWAR5, HERC2, SNURF, AQR, ARHGAP11A, SLC12A6, FAN1, GOLGA8A, FAM189A1, NPAP1, LINC02249, GREM1, EMC4, KLF13, MAGEL2, MTMR10, ZNF770, NOP10, NSMCE3, EMC7, AVEN, ATP10A, GJD2, KATNBL1, CDIN1, CHRFAM7A, ARHGAP11B, DPH6, SNORD107, PWAR1, LOC145845, TMCO5A, OTUD7A, PGBD4, LPCAT4, NUTM1, GOLGA6L2, LOC283710, GOLGA8G, SNORD108, SNORD109A, SNORD109B, SNORD115-1, FMN1, SNORD64, PWAR4, PWARSN, NANOGP8, MIR211, GOLGA8B, LINC00929, GOLGA8N, LOC645202, GOLGA8S, GOLGA8J, GOLGA8T, GOLGA8K, GOLGA8M, SNORD115@, SNORD116@, SNORD116-19, GOLGA8Q, GOLGA8O, GOLGA6L7, GOLGA8H, PWRN1, PWRN2, SNORD116-1, SNORD116-2, SNORD116-3, SNORD116-4, SNORD116-5, SNORD116-6, SNORD116-7, SNORD116-8, SNORD116-9, SNORD116-10, SNORD116-11, SNORD116-12, SNORD116-13, SNORD116-14, SNORD116-15, SNORD116-16, SNORD116-17, SNORD116-18, SNORD116-20, SNORD116-21, SNORD116-22, SNORD116-23, SNORD116-24, SNORD116-25, SNORD115-2, SNORD116-26, SNORD116-27, SNORD115-3, SNORD115-4, SNORD115-5, SNORD115-6, SNORD115-7, SNORD115-8, SNORD115-9, SNORD115-10, SNORD115-11, SNORD115-12, SNORD115-13, SNORD115-14, SNORD115-15, SNORD115-16, SNORD115-17, SNORD115-18, SNORD115-19, SNORD115-20, SNORD115-21, SNORD115-22, SNORD115-23, SNORD115-25, SNORD115-26, SNORD115-29, SNORD115-30, SNORD115-31, SNORD115-32, SNORD115-33, SNORD115-34, SNORD115-35, SNORD115-36, SNORD115-37, SNORD115-38, SNORD115-39, SNORD115-40, SNORD115-41, SNORD115-42, SNORD115-43, SNORD115-44, SNORD116-28, SNORD116-29, SNORD115-48, SNORD115-24, SNORD115-27, SNORD115-28, SNORD115-45, SNORD115-47, LINC02346, LOC100130111, GREM1-AS1, LOC100132202, GOLGA8F, TRE-TTC2-2, MIR1233-1, MIR1233-2, MIR3942, PWAR6, DPH6-DT, LINC02853, MIR4509-2, MIR4508, MIR4510, MIR4509-3, MIR4715, SNORD116-30, SNORD115-46, LINC02256, LOC100996413, GOLGA8R, LOC101928042, RYR3-DT, GJD2-DT, LINC02345, PWRN3, GABRG3-AS1, MIR8063, LOC102723623, ARHGAP11B-DT, LINC02352, SNHG14, PWRN4, LINC02250, ATP10A-DT, SCG5-AS1, LINC02252, LOC106736464, LOC106736465, LOC106736468, LOC106736469, LOC106736476, LOC106736477, LOC106736480, LOC106736481, LOC106783506, LINC01852, LOC108004527, LOC110120842, LOC110120858, LOC110120896, LOC110120905, LOC110120936, LOC110120937, LOC110121498, LOC112272578, LOC112272579, LOC112272580, LOC112272581, LOC112272582, LOC112272583, LOC113939943, ARHGAP11A-SCG5
See casesPathogenic
(Nov 30, 2009)
no assertion criteria providedVCV000146702
3.
GRCh37:
Chr15:25279016-37496505
GRCh38:
Chr15:25033869-37204304
ACTC1, APBA2, CHRM5, CHRNA7, GABRA5, GABRB3, GABRG3, IPW, MEIS2, TRPM1, OCA2, RYR3, SCG5, TJP1, UBE3A, HERC2, AQR, ARHGAP11A, SLC12A6, FAN1, GOLGA8A, FAM189A1, LINC02249, GREM1, EMC4, KLF13, MTMR10, ZNF770, NOP10, NSMCE3, EMC7, AVEN, ATP10A, GJD2, KATNBL1, CDIN1, CHRFAM7A, ARHGAP11B, DPH6, PWAR1, LOC145845, OTUD7A, PGBD4, LPCAT4, NUTM1, LOC283710, GOLGA8G, SNORD109A, SNORD109B, SNORD115-1, FMN1, PWAR4, NANOGP8, MIR211, GOLGA8B, LINC00929, GOLGA8N, LOC645202, GOLGA8J, GOLGA8T, GOLGA8K, GOLGA8M, SNORD115@, SNORD116@, SNORD116-19, GOLGA8Q, GOLGA8O, GOLGA6L7, GOLGA8H, SNORD116-1, SNORD116-2, SNORD116-3, SNORD116-4, SNORD116-5, SNORD116-6, SNORD116-7, SNORD116-8, SNORD116-9, SNORD116-10, SNORD116-11, SNORD116-12, SNORD116-13, SNORD116-14, SNORD116-15, SNORD116-16, SNORD116-17, SNORD116-18, SNORD116-20, SNORD116-21, SNORD116-22, SNORD116-23, SNORD116-24, SNORD116-25, SNORD115-2, SNORD116-26, SNORD116-27, SNORD115-3, SNORD115-4, SNORD115-5, SNORD115-6, SNORD115-7, SNORD115-8, SNORD115-9, SNORD115-10, SNORD115-11, SNORD115-12, SNORD115-13, SNORD115-14, SNORD115-15, SNORD115-16, SNORD115-17, SNORD115-18, SNORD115-19, SNORD115-20, SNORD115-21, SNORD115-22, SNORD115-23, SNORD115-25, SNORD115-26, SNORD115-29, SNORD115-30, SNORD115-31, SNORD115-32, SNORD115-33, SNORD115-34, SNORD115-35, SNORD115-36, SNORD115-37, SNORD115-38, SNORD115-39, SNORD115-40, SNORD115-41, SNORD115-42, SNORD115-43, SNORD115-44, SNORD116-28, SNORD116-29, SNORD115-48, SNORD115-24, SNORD115-27, SNORD115-28, SNORD115-45, SNORD115-47, LINC02346, LOC100130111, GREM1-AS1, LOC100132202, GOLGA8F, TRE-TTC2-2, MIR1233-1, MIR1233-2, MIR3942, PWAR6, DPH6-DT, LINC02853, MIR4509-2, MIR4510, MIR4509-3, MIR4715, SNORD116-30, SNORD115-46, LINC02256, LOC100996413, GOLGA8R, LOC101928042, RYR3-DT, GJD2-DT, GABRG3-AS1, MIR8063, ARHGAP11B-DT, LINC02352, SNHG14, LINC02250, ATP10A-DT, SCG5-AS1, LINC02252, LOC106736464, LOC106736465, LOC106736468, LOC106736469, LOC106736476, LOC106736477, LOC106736480, LOC106736481, LOC106783506, LOC108004527, LOC110120842, LOC110120858, LOC110120936, LOC110121498, LOC112272580, LOC112272581, LOC112272582, LOC112272583, LOC113939943, ARHGAP11A-SCG5
See casesPathogenic
(Jan 28, 2013)
no assertion criteria providedVCV000155138
4.
GRCh37:
Chr15:32618337-39686269
GRCh38:
Chr15:32326136-39394068
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057876
5.
GRCh37:
Chr15:32928004-40526026
GRCh38:
Chr15:32635803-40233825
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057877
6.
GRCh37:
Chr15:34880216-39572605
GRCh38:
Chr15:34588015-39280404
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057878
7.
GRCh37:
Chr15:35287652-40027263
GRCh38:
Chr15:34995451-39735062
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057226
8.
GRCh37:
Chr15:36556618-38338165
GRCh38:
Chr15:36264417-38045964
See casesUncertain significance
(Feb 29, 2016)
no assertion criteria providedVCV000153984
9.
GRCh37:
Chr15:36824194-41079736
GRCh38:
Chr15:36531993-40787538
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058570
10.
GRCh37:
Chr15:37187370
GRCh38:
Chr15:36895169
MEIS2M282L, M364L, M370L, M377L, M357LCleft palate, cardiac defects, and mental retardationUncertain significance
(Jan 26, 2019)
criteria provided, single submitterVCV000854177
11.
GRCh37:
Chr15:37188865-37188867
GRCh38:
Chr15:36896664-36896666
MEIS2R320del, R333del, R245delInborn genetic diseases, MEIS2-related disorder, not provided,
Cleft palate, cardiac defects, and mental retardation
Pathogenic/Likely pathogenic
(Oct 23, 2020)
criteria provided, multiple submitters, no conflictsVCV000224962
12.
GRCh37:
Chr15:37188873
GRCh38:
Chr15:36896672
MEIS2R243K, R318K, R331KCleft palate, cardiac defects, and mental retardationPathogenic
(Dec 21, 2020)
criteria provided, single submitterVCV001199240
13.
GRCh37:
Chr15:37188878
GRCh38:
Chr15:36896677
MEIS2N316K, N329K, N241Knot providedLikely pathogenic
(Aug 14, 2015)
criteria provided, single submitterVCV000429478
14.
GRCh37:
Chr15:37188889
GRCh38:
Chr15:36896688
MEIS2not providedPathogenic
(Apr 10, 2017)
no assertion criteria providedVCV000545068
15.
GRCh37:
Chr15:37242523
GRCh38:
Chr15:36950322
MEIS2Cleft palate, cardiac defects, and mental retardationPathogenic
(Sep 14, 2020)
criteria provided, single submitterVCV001285573
16.
GRCh37:
Chr15:37242537
GRCh38:
Chr15:36950336
MEIS2Q309L, Q322L, Q234Lnot providedLikely pathogenic
(Aug 3, 2017)
criteria provided, single submitterVCV000423971
17.
GRCh37:
Chr15:37242538
GRCh38:
Chr15:36950337
MEIS2Q234E, Q309E, Q322ECleft palate, cardiac defects, and mental retardationLikely pathogenic
(Jan 1, 2019)
no assertion criteria providedVCV000975446
18.
GRCh37:
Chr15:37242563
GRCh38:
Chr15:36950362
MEIS2not providedLikely benign
(Nov 18, 2017)
criteria provided, single submitterVCV000707087
19.
GRCh37:
Chr15:37242565-37242568
GRCh38:
Chr15:36950364-36950367
MEIS2L224fs, L299fs, L312fsCleft palate, cardiac defects, and mental retardation, Inborn genetic diseasesPathogenic/Likely pathogenic
(May 28, 2019)
criteria provided, multiple submitters, no conflictsVCV000803063
20.
GRCh37:
Chr15:37242587
GRCh38:
Chr15:36950386
MEIS2not providedLikely benign
(Oct 17, 2017)
criteria provided, single submitterVCV000773960
21.
GRCh37:
Chr15:37242597
GRCh38:
Chr15:36950396
MEIS2P289L, P302L, P214Lnot providedLikely pathogenic
(Aug 3, 2017)
criteria provided, single submitterVCV000418712
22.
GRCh37:
Chr15:37329038
GRCh38:
Chr15:37036837
MEIS2A280P, A205P, A293PCleft palate, cardiac defects, and mental retardationLikely pathogenic
(Apr 19, 2018)
criteria provided, single submitterVCV001033183
23.
GRCh37:
Chr15:37329089-37329090
GRCh38:
Chr15:37036888-37036889
MEIS2R276fs, R263fs, R188fsCleft palate, cardiac defects, and mental retardationPathogenic
(Oct 13, 2017)
no assertion criteria providedVCV000559625
24.
GRCh37:
Chr15:37329105
GRCh38:
Chr15:37036904
MEIS2not provided, Cleft palate, cardiac defects, and mental retardationLikely benign
(Nov 24, 2020)
criteria provided, single submitterVCV000705193
25.
GRCh37:
Chr15:37375970
GRCh38:
Chr15:37083769
MEIS2not providedLikely pathogenic
(Jul 28, 2020)
criteria provided, single submitterVCV000977210
26.
GRCh37:
Chr15:37375993
GRCh38:
Chr15:37083792
MEIS2G157R, G232R, G245RCleft palate, cardiac defects, and mental retardationUncertain significance
(Sep 17, 2020)
criteria provided, single submitterVCV001061333
27.
GRCh37:
Chr15:37375994
GRCh38:
Chr15:37083793
MEIS2Cleft palate, cardiac defects, and mental retardationBenign
(Aug 29, 2020)
criteria provided, single submitterVCV000532737
28.
GRCh37:
Chr15:37376010
GRCh38:
Chr15:37083809
MEIS2G239fs, G151fs, G226fsnot providedLikely pathogenic
(Jan 1, 2020)
criteria provided, single submitterVCV000870995
29.
GRCh37:
Chr15:37376039
GRCh38:
Chr15:37083838
MEIS2Cleft palate, cardiac defects, and mental retardationLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000733639
30.
GRCh37:
Chr15:37376069
GRCh38:
Chr15:37083868
MEIS2Cleft palate, cardiac defects, and mental retardationLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000706870
31.
GRCh37:
Chr15:37376071
GRCh38:
Chr15:37083870
MEIS2R131*, R206*, R219*not providedPathogenic
(Jul 11, 2021)
criteria provided, single submitterVCV001219300
32.
GRCh37:
Chr15:37385791
GRCh38:
Chr15:37093590
MEIS2not provided, Cleft palate, cardiac defects, and mental retardationBenign
(Nov 30, 2018)
criteria provided, single submitterVCV000707649
33.
GRCh37:
Chr15:37385810
GRCh38:
Chr15:37093609
MEIS2S204*, S191*, S116*Cleft palate, cardiac defects, and mental retardationPathogenic
(Aug 26, 2019)
no assertion criteria providedVCV000427215
34.
GRCh37:
Chr15:37385818
GRCh38:
Chr15:37093617
MEIS2Cleft palate, cardiac defects, and mental retardationLikely benign
(Feb 17, 2020)
criteria provided, single submitterVCV001122819
35.
GRCh37:
Chr15:37385841
GRCh38:
Chr15:37093640
MEIS2G106S, G181S, G194SCleft palate, cardiac defects, and mental retardationBenign
(May 8, 2020)
criteria provided, single submitterVCV001164888
36.
GRCh37:
Chr15:37385843-37385845
GRCh38:
Chr15:37093642-37093644
MEIS2Cleft palate, cardiac defects, and mental retardationUncertain significance
(May 9, 2019)
criteria provided, single submitterVCV000567456
37.
GRCh37:
Chr15:37385860
GRCh38:
Chr15:37093659
MEIS2not providedLikely benign
(Mar 29, 2018)
criteria provided, single submitterVCV000737199
38.
GRCh37:
Chr15:37385901
GRCh38:
Chr15:37093700
MEIS2R161*, R174*, R86*not providedPathogenic
(Sep 14, 2018)
criteria provided, single submitterVCV000489082
39.
GRCh37:
Chr15:37385914
GRCh38:
Chr15:37093713
MEIS2Cleft palate, cardiac defects, and mental retardationBenign
(Sep 13, 2020)
criteria provided, single submitterVCV000532739
40.
GRCh37:
Chr15:37385926
GRCh38:
Chr15:37093725
MEIS2Cleft palate, cardiac defects, and mental retardation, not providedLikely benign
(Oct 22, 2018)
criteria provided, single submitterVCV000793586
41.
GRCh37:
Chr15:37385938
GRCh38:
Chr15:37093737
MEIS2Cleft palate, cardiac defects, and mental retardationLikely benign
(Mar 9, 2020)
criteria provided, single submitterVCV001080522
42.
GRCh37:
Chr15:37386746
GRCh38:
Chr15:37094545
MEIS2Cleft palate, cardiac defects, and mental retardation, not providedLikely benign
(Jan 31, 2018)
criteria provided, single submitterVCV000532738
43.
GRCh37:
Chr15:37387779
GRCh38:
Chr15:37095578
MEIS2E129*, E142*, E54*not providedPathogenic
(Oct 22, 2018)
criteria provided, single submitterVCV000620448
44.
GRCh37:
Chr15:37388484
GRCh38:
Chr15:37096283
MEIS2Cleft palate, cardiac defects, and mental retardationUncertain significance
(Apr 23, 2020)
criteria provided, single submitterVCV001005146
45.
GRCh37:
Chr15:37390176
GRCh38:
Chr15:37097975
MEIS2not provided, Cleft palate, cardiac defects, and mental retardationLikely benign
(Jul 3, 2018)
criteria provided, single submitterVCV000712073
46.
GRCh37:
Chr15:37390246
GRCh38:
Chr15:37098045
MEIS2P56Q, P43QCleft palate, cardiac defects, and mental retardationUncertain significance
(Jun 26, 2018)
criteria provided, single submitterVCV001033182
47.
GRCh37:
Chr15:37390263
GRCh38:
Chr15:37098062
MEIS2not providedLikely benign
(Jun 12, 2018)
criteria provided, single submitterVCV000748484
48.
GRCh37:
Chr15:37390271
GRCh38:
Chr15:37098070
MEIS2T35A, T48ACleft palate, cardiac defects, and mental retardationUncertain significance
(Oct 26, 2019)
criteria provided, single submitterVCV000657998
49.
GRCh37:
Chr15:37390316
GRCh38:
Chr15:37098115
MEIS2I20V, I33VCleft palate, cardiac defects, and mental retardationUncertain significance
(Jan 13, 2020)
criteria provided, single submitterVCV000851497
50.
GRCh37:
Chr15:37390317
GRCh38:
Chr15:37098116
MEIS2Cleft palate, cardiac defects, and mental retardationLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000532740
51.
GRCh37:
Chr15:37390353
GRCh38:
Chr15:37098152
MEIS2not providedLikely benign
(Oct 31, 2018)
criteria provided, single submitterVCV000785181
52.
GRCh37:
Chr15:37390374
GRCh38:
Chr15:37098173
MEIS2not providedLikely benign
(Sep 20, 2018)
criteria provided, single submitterVCV000763913
53.
GRCh37:
Chr15:37390375
GRCh38:
Chr15:37098174
MEIS2G13Enot providedUncertain significance
(Jun 5, 2017)
criteria provided, single submitterVCV000432494
54.
GRCh37:
Chr15:37390389
GRCh38:
Chr15:37098188
MEIS2Cleft palate, cardiac defects, and mental retardationBenign
(Aug 29, 2019)
criteria provided, single submitterVCV001166144
55.
GRCh37:
Chr15:32964879-91358519
SEMA4B, CIB2, GNB5, ARPP19, CLPX, CIB1, MTHFS, ARID3B, CTSH, CYP1A1, ARPIN, USP50, TEX9, WDR76, TMEM62, C15orf61, HAPLN3, ZFYVE19, WDR73, KIF7, ZNF710, CCDC9B, TNFAIP8L3, CLN6, ZNF770, ZSCAN2, TRIP4, TGM5, SNX1, SORD, SPINT1, SRP14, C2CD4B, RBPMS2, CPLX3, SERINC4, C15orf62, CALML4, LDHAL6B, PAK6-AS1, PHGR1, IMP3, LARP6, GOLGA6C, GOLGA6D, MNS1, DNAJA4, ANKRD63, AP3B2, ANP32A, SEMA7A, CILP, PIAS1, CHRNA5, CHRNB4, SH2D7, NOP10, GOLGA6B, LOXL1, LTK, EIF3J, RAB11A, SNAP23, FSIP1, TYRO3, SLC30A4, AQP9, B2M, BBS4, BCL2A1, BLM, BNC1, BNIP2, BUB1B, CA12, CAPN3, CHRM5, CHRNA3, RPL4, RPLP1, LCTL, UBR1, MESP1, MYO5C, FBN1, FGF7, GABPB1, GALK2, GANC, GATM, COPS2, LPCAT4, PLA2G4F, FAM214A, EMC7, HDC, HEXA, ONECUT1, IDH2, IDH3A, IL16, C15orf39, THAP10, SCAMP2, SNUPN, IREB2, ISG20, ISLR, ITPKA, IVD, LIPC, FANCI, IGDCC4, SQOR, KLHL25, RHOV, SCAMP5, HOMER2, SMAD3, SMAD6, MAN2C1, MAP1A, MEIS2, PPIB, MAPK6, MAP2K1, MAP2K5, PSMA4, PTPN9, DENND4A, COX5A, STOML1, RAB27A, RAD51, RASGRF1, RCN2, RLBP1, RORA, RPS17, RYR3, SCG5, SH3GL3, SLC12A1, PATL2, MFAP1, TCF12, THBS1, TLE3, TP53BP1, TPM1, SPESP1, PLCB2, PLIN1, PEX11A, IQGAP1, ALDH1A2, HERC1, PSTPIP1, USP8, CCNB2, SLC28A2, SLC28A1, SLC24A1, CCPG1, GCNT3, PPIP5K1, AQR, SECISBP2L, PCLAF, LCMT2, ARNT2, PML, POLG, CRTC3, ISL2, MFGE8, MPI, WHAMM, RTF1, MESD, ACSBG1, MINAR1, LRRC57, SPG21, FAM227B, CT62, GRAMD2A, SCARNA15, FBXO22-AS1, LOC100128979, GLDN, GOLGA6A, TMC3, ZNF774, ANKDD1A, HYKK, ABHD17C, TLNRD1, PPCDC, PDCD7, TSPAN3, FEM1B, RASGRP1, SERF2, AP3S2, ADAMTS7, AKAP13, GPR176, CHP1, OIP5, ITGA11, BAHD1, CEP152, MAPKBP1, GOLGA8A, ZNF609, TBC1D2B, CYP1A2, CYP11A1, CYP19A1, DMXL2, VPS39, TMED3, AP4E1, SEC11A, CCNDBP1, SPTBN5, NGRN, EPB42, ETFA, FAH, SIN3A, TMEM87A, ULK3, RPAP1, GLCE, PYGO1, DUT, GREM1, MRPL46, RNU6-1, RNU5A-1, NPTN, RHCG, HACD3, MYO1E, MYO5A, MYO9A, TMOD3, TMOD2, EHD4, SCAPER, DUOX2, MYEF2, NEDD4, NEO1, NMB, RPS27L, NDUFAF1, RSL24D1, NUSAP1, EMC4, RASL12, CGNL1, FRMD5, UBL7, DISP2, DPH6, TICRR, KNSTRN, BMF, CTDSPL2, RAB8B, BTBD1, TM6SF1, DUOX1, SCG3, MGA, DAPK2, EID1, HYPK, PDE8A, PKM, SHF, DUOXA1, PARP16, TIPIN, ISLR2, VPS18, CCDC32, PEAK1, TRIM69, TERB2, C15orf65, INO80, MINDY2, RNF111, ZNF280D, TRPM7, VPS13C, FBXO22, NTRK3, OAZ2, LRRC49, PAQR5, PPP1R14D, DPP8, RPP25, COMMD4, FOXB1, RPUSD2, ZNF592, USP3, ZWILCH, DET1, UACA, HAUS2, RMDN3, DNAJC17, TUBGCP4, PAK6, WDR93, PARP6, DTWD1, KNL1, AVEN, FAM219B, ADAMTSL3, CEMIP, GJD2, STARD9, ALPK3, RFX7, MRPS11, SPATA5L1, CHAC1, NOX5, EFL1, NEIL1, ICE2, AAGAB, LMAN1L, KATNBL1, SLTM, ARIH1, ACTC1, POLR2M, INTS14, ADPGK, APH1B, RAMAC, TLN2, LINGO1, MESP2, TMEM266, AGBL1, FSD2, PLA2G4E, ADAL, EXD1, TMEM202, MIR184, C2CD4A, FAM81A, ADAM10, ACAN, ANPEP, ANXA2, BLOC1S6, CPEB1, AEN, ZFAND6, CIAO2A, MEX3B, C15orf48, MEGF11, CDIN1, SPPL2A, SNX22, THSD4, ATP8B4, UBE2Q2, CHST14, GOLM2, LACTB, DIS3L, TGM7, CATSPER2, LEO1, C15orf40, SENP8, MTFMT, SLC51B, SEMA6D, TMCO5A, NRG4, ZSCAN29, TTBK2, CDAN1, STRC, PIF1, CFAP161, TBC1D21, DNAAF4, SPRED1, ODF3L1, PGBD4, CCDC33, EDC3, LYSMD2, NUTM1, WDR72, SNX33, SLC24A5, PRTG, REC114, SAXO2, FAM98B, PLA2G4D, LINC00928, FBXL22, SPG11, INSYN1, KBTBD13, UBAP1L, SKOR1, ANKRD34C, GDPGP1, CKMT1B, CLK3, GCHFR, PDIA3, GTF2A2, DLL4, CRABP1, CSK, CSNK1G1, CSPG4, SNAPC5, MORF4L1, IQCH, CELF6, STRA6, ZNF106, ELL3, PLEKHO2, WDR61, CD276, STARD5, SLC27A2, ABHD2, SHC4, CTXN2, LINC02694, LINC02915, ST20, DUOXA2, JMJD7, PLA2G4B, ARPIN-AP3S2, ST20-MTHFS, MYZAP, MIR9-3, GOLGA8B, HMG20A, CORO2B, SLC12A6, PIGB, KIF23, IGDCC3, EIF2AK4, UNC13C, CKMT1A, NR2E3, BCL2L10, HCN4
Familial colorectal cancer, Bloom syndromeUncertain significance
(Feb 6, 2020)
criteria provided, single submitterVCV001024934
56.
GRCh37:
Chr15:34197488-38656254
not providedPathogenic
(Jan 26, 2019)
no assertion criteria providedVCV000815702
57.
GRCh37:
Chr15:37328530-37383148
MEIS2not providedPathogenic
(Jun 5, 2018)
no assertion criteria providedVCV000686274
58.
GRCh37:
Chr15:37299667-37409497
MEIS2not providedPathogenic
(Jun 26, 2018)
no assertion criteria providedVCV000685290
59.
GRCh37:
Chr15:20071673-102461162
OIP5, ITGA11, CHSY1, BAHD1, FAN1, CEP152, MAPKBP1, GOLGA8A, ZNF609, TBC1D2B, RTF1, MESD, CYFIP1, ACSBG1, MINAR1, MGA, DMXL2, SYNM, VPS39, FAM189A1, TMED3, AP4E1, SEC11A, CCNDBP1, DAPK2, EID1, NPAP1, HYPK, ARIH1, SIN3A, TMEM87A, ULK3, RPAP1, GLCE, PYGO1, BLOC1S6, FBXO22, VPS33B, GREM1, MRPL46, RNU6-1, RNU5A-1, NPTN, FOXB1, RPUSD2, TUBGCP4, SLCO3A1, SCG3, TMOD3, TMOD2, EHD4, SCAPER, DUOX2, MYEF2, RPS27L, NDUFAF1, RSL24D1, NUSAP1, EMC4, RASL12, SPG21, SPTBN5, NGRN, RHCG, HACD3, CTDSPL2, KLF13, RAB8B, BTBD1, TM6SF1, DUOX1, CSNK1G1, ZFAND6, MAGEL2, DLL4, INO80, MINDY2, RNF111, ZNF280D, TRPM7, VPS13C, LRRC49, PAQR5, PPP1R14D, DPP8, MTMR10, RPP25, COMMD4, PARP16, TIPIN, CLN6, ZNF770, ZSCAN2, ZWILCH, DET1, UACA, HAUS2, RMDN3, LINS1, DNAJC17, FANCI, IMP3, LARP6, MNS1, DNAJA4, NOP10, MCTP2, SELENOS, GOLGA6B, MESP1, UNC45A, MYO5C, NSMCE3, FAM214A, EMC7, C15orf39, THAP10, PAK6, RGMA, WDR93, PARP6, DTWD1, KNL1, AVEN, FAM219B, ADAMTSL3, ATP10A, CEMIP, GJD2, STARD9, ALPK3, ISLR2, VPS18, IGDCC4, SQOR, ABHD17C, TLNRD1, PPCDC, CELF6, STRA6, ZNF106, KLHL25, CPEB1, AEN, CRTC3, IQCH, ISL2, RFX7, TTC23, MRPS11, SPATA5L1, CHAC1, NOX5, EFL1, NEIL1, ICE2, LRRK1, AAGAB, LMAN1L, KATNBL1, SLTM, PEAK1, SNX22, THSD4, ATP8B4, WDR76, TMEM62, SEMA6D, PIF1, CCDC33, EDC3, SPG11, TM2D3, ELL3, PLEKHO2, WDR61, CD276, STARD5, POLR2M, INTS14, NIPA2, ADPGK, APH1B, RAMAC, TLN2, CIAO2A, MEX3B, C15orf48, MEGF11, CDIN1, SPPL2A, LINGO1, ZFYVE19, WDR73, CGNL1, FRMD5, UBL7, DISP2, CHRFAM7A, ARHGAP11B, DPH6, TICRR, CCDC32, KNSTRN, BMF, SHF, DUOXA1, RCCD1, CALML4, ARRDC4, LDHAL6B, UBE2Q2, CHST14, GOLM2, LACTB, TUBGCP5, DIS3L, TGM7, CATSPER2, LEO1, C15orf40, SENP8, MTFMT, SLC51B, TARS3, LRRC28, TMEM266, NIPA1, AGBL1, HYKK, WHAMM, FSD2, PLA2G4E, ASB7, TRIM69, PWAR1, TERB2, C2CD4A, LYSMD4, FAM81A, C15orf65, PGPEP1L, C15orf61, C15orf32, HAPLN3, MESP2, TMCO5A, SPATA8, NRG4, ZSCAN29, TTBK2, CDAN1, STRC, CFAP161, TBC1D21, DNAAF4, OTUD7A, SPRED1, ODF3L1, PGBD4, ADAL, EXD1, FSIP1, ADAMTS17, RHOV, SCAMP5, FAM227B, CT62, GRAMD2A, LCTL, UBR1, PATL2, CERS3, SPESP1, LPCAT4, PLA2G4F, LRRC57, LYSMD2, NUTM1, WDR72, SNX33, SLC24A5, PRTG, REC114, GOLGA6L2, OR4N4, SAXO2, FAM98B, PLA2G4D, LINC00928, GOLGA6L1, FBXL22, SNORD115-1, TMEM202, GLDN, GOLGA6A, TMC3, ZNF774, PWAR4, PWARSN, RBPMS2, ANKDD1A, ARPIN, USP50, TEX9, KIF7, ZNF710, HDDC3, CCDC9B, TNFAIP8L3, C2CD4B, INSYN1, OR4M2, KBTBD13, UBAP1L, SKOR1, ANKRD34C, GDPGP1, OR4F6, OR4F15, SHC4, CTXN2, LINC02694, LINC02915, ST20, FAM174B, DUOXA2, MIR184, MIR211, MIR9-3, GOLGA8B, EIF2AK4, UNC13C, CKMT1A, CPLX3, SERINC4, C15orf62, GOLGA8N, PAK6-AS1, PHGR1, SH2D7, GOLGA8J, GOLGA6C, GOLGA6D, GOLGA8M, SCARNA15, FBXO22-AS1, GOLGA6L6, GOLGA8O, GOLGA8H, PWRN1, PWRN2, SNORD116-1, LOC100128979, ANKRD63, JMJD7, PLA2G4B, POTEB2, PWAR6, ARPIN-AP3S2, ST20-MTHFS, MYZAP, POTEB, ACTC1, ADAM10, ACAN, ALDH1A3, ANPEP, ANXA2, APBA2, AQP9, B2M, BBS4, BCL2A1, BLM, BNC1, BNIP2, BUB1B, CA12, CAPN3, CHD2, CHRM5, CHRNA3, CHRNA5, CHRNA7, CHRNB4, CKMT1B, CLK3, CRABP1, CSK, CSPG4, CTSH, CYP1A1, CYP1A2, CYP11A1, CYP19A1, DUT, EPB42, ETFA, FAH, FBN1, FES, FGF7, GABPB1, GABRA5, GABRB3, GABRG3, GALK2, GANC, GATM, GCHFR, PDIA3, GTF2A2, HDC, HEXA, ONECUT1, IDH2, IDH3A, IGF1R, IL16, IPW, IREB2, ISG20, ISLR, ITPKA, IVD, LIPC, LOXL1, LTK, SMAD3, SMAD6, MAN2A2, MAN2C1, MAP1A, MEF2A, MEIS2, MFAP1, MFGE8, TRPM1, MPI, MYO1E, MYO5A, MYO9A, NDN, NEDD4, NEO1, NMB, NTRK3, OAZ2, OCA2, FURIN, PCSK6, PDE8A, PKM, PLCB2, PLIN1, PML, POLG, PPIB, MAPK6, MAP2K1, MAP2K5, PSMA4, PTPN9, RAB27A, RAD51, RASGRF1, RCN2, RLBP1, RORA, RPL4, RPLP1, RPS17, RYR3, SCG5, SH3GL3, SLC12A1, SNRPA1, SNRPN, SNX1, SORD, SPINT1, SRP14, TCF12, NR2F2, THBS1, TJP1, TLE3, TP53BP1, TPM1, TYRO3, UBE3A, MKRN3, SLC30A4, AP3B2, PWAR5, ANP32A, ST8SIA2, SEMA7A, CILP, PIAS1, EIF3J, RAB11A, SNAP23, PEX11A, IQGAP1, ALDH1A2, HERC2, HERC1, SNURF, PSTPIP1, PRC1, USP8, CCNB2, SLC28A2, SLC28A1, SLC24A1, CCPG1, GCNT3, COPS2, TRIP4, TGM5, COX5A, STOML1, HOMER2, PIGB, KIF23, IGDCC3, ZNF592, PPIP5K1, AQR, SECISBP2L, PCLAF, ARHGAP11A, LCMT2, SV2B, ARNT2, USP3, SLC12A6, NR2E3, BCL2L10, HCN4, SCAMP2, SNUPN, PDCD7, TSPAN3, FEM1B, RASGRP1, SERF2, AP3S2, DENND4A, SNAPC5, HMG20A, CORO2B, SEMA4B, CIB2, CIB1, MTHFS, ARID3B, GNB5, ARPP19, CLPX, MORF4L1, SLC27A2, ABHD2, ADAMTS7, AKAP13, GPR176, CHP1
not providedPathogenic
(Jan 5, 2017)
no assertion criteria providedVCV000614520
60.
GRCh37:
Chr15:20016811-102493540
CSK, CSPG4, CTSH, CYP1A1, CYP1A2, CYP11A1, CYP19A1, DUT, EPB42, ETFA, FAH, FBN1, FES, FGF7, GABPB1, GABRA5, GABRB3, GABRG3, GALK2, GANC, GATM, GCHFR, PDIA3, GTF2A2, HDC, HEXA, ONECUT1, IDH2, IDH3A, IGF1R, IL16, IPW, IREB2, ISG20, ISLR, ITPKA, IVD, LIPC, LOXL1, LTK, SMAD3, SMAD6, MAN2A2, MAN2C1, MAP1A, MEF2A, MEIS2, MFAP1, MFGE8, TRPM1, MPI, MYO1E, MYO5A, MYO9A, NDN, NEDD4, NEO1, NMB, NTRK3, OAZ2, OCA2, FURIN, PCSK6, PDE8A, PKM, PLCB2, PLIN1, PML, POLG, PPIB, MAPK6, MAP2K1, MAP2K5, PSMA4, PTPN9, RAB27A, RAD51, RASGRF1, RCN2, RLBP1, RORA, RPL4, RPLP1, RPS17, RYR3, SCG5, SH3GL3, SLC12A1, SNRPA1, SNRPN, SNX1, SORD, SPINT1, SRP14, TCF12, NR2F2, THBS1, TJP1, TLE3, TP53BP1, TPM1, TYRO3, UBE3A, MKRN3, SLC30A4, AP3B2, PWAR5, ANP32A, ST8SIA2, SEMA7A, CILP, PIAS1, EIF3J, RAB11A, SNAP23, PEX11A, IQGAP1, ALDH1A2, HERC2, HERC1, SNURF, PSTPIP1, PRC1, USP8, CCNB2, SLC28A2, SLC28A1, SLC24A1, CCPG1, GCNT3, COPS2, TRIP4, TGM5, COX5A, STOML1, HOMER2, PIGB, KIF23, IGDCC3, ZNF592, PPIP5K1, AQR, SECISBP2L, PCLAF, ARHGAP11A, LCMT2, SV2B, ARNT2, USP3, SLC12A6, NR2E3, BCL2L10, HCN4, SCAMP2, SNUPN, PDCD7, TSPAN3, FEM1B, RASGRP1, SERF2, AP3S2, DENND4A, SNAPC5, HMG20A, CORO2B, SEMA4B, CIB2, CIB1, MTHFS, ARID3B, GNB5, ARPP19, CLPX, MORF4L1, SLC27A2, ABHD2, ADAMTS7, AKAP13, GPR176, CHP1, OIP5, ITGA11, CHSY1, BAHD1, FAN1, CEP152, MAPKBP1, GOLGA8A, ZNF609, TBC1D2B, RTF1, MESD, CYFIP1, ACSBG1, MINAR1, MGA, DMXL2, SYNM, VPS39, FAM189A1, TMED3, AP4E1, SEC11A, CCNDBP1, DAPK2, EID1, NPAP1, HYPK, ARIH1, SIN3A, TMEM87A, ULK3, RPAP1, GLCE, PYGO1, BLOC1S6, FBXO22, VPS33B, GREM1, MRPL46, OR4F4, RNU6-1, RNU5A-1, NPTN, FOXB1, RPUSD2, TUBGCP4, SLCO3A1, SCG3, TMOD3, TMOD2, EHD4, SCAPER, DUOX2, MYEF2, RPS27L, NDUFAF1, RSL24D1, NUSAP1, EMC4, RASL12, SPG21, SPTBN5, NGRN, RHCG, HACD3, CTDSPL2, KLF13, RAB8B, BTBD1, TM6SF1, DUOX1, CSNK1G1, ZFAND6, MAGEL2, DLL4, INO80, MINDY2, RNF111, ZNF280D, TRPM7, VPS13C, LRRC49, PAQR5, PPP1R14D, DPP8, MTMR10, RPP25, COMMD4, PARP16, TIPIN, CLN6, ZNF770, ZSCAN2, ZWILCH, DET1, UACA, HAUS2, RMDN3, LINS1, DNAJC17, FANCI, IMP3, LARP6, MNS1, DNAJA4, NOP10, MCTP2, SELENOS, GOLGA6B, MESP1, UNC45A, MYO5C, NSMCE3, FAM214A, EMC7, C15orf39, THAP10, PAK6, RGMA, WDR93, PARP6, DTWD1, KNL1, AVEN, FAM219B, ADAMTSL3, ATP10A, CEMIP, GJD2, STARD9, ALPK3, ISLR2, VPS18, IGDCC4, SQOR, ABHD17C, TLNRD1, PPCDC, CELF6, STRA6, ZNF106, KLHL25, CPEB1, AEN, CRTC3, IQCH, ISL2, RFX7, TTC23, MRPS11, SPATA5L1, CHAC1, NOX5, EFL1, NEIL1, ICE2, LRRK1, AAGAB, LMAN1L, KATNBL1, SLTM, PEAK1, SNX22, THSD4, ATP8B4, WDR76, TMEM62, SEMA6D, PIF1, CCDC33, EDC3, SPG11, TM2D3, ELL3, PLEKHO2, WDR61, CD276, STARD5, POLR2M, INTS14, NIPA2, ADPGK, APH1B, RAMAC, TLN2, CIAO2A, MEX3B, C15orf48, MEGF11, CDIN1, SPPL2A, LINGO1, ZFYVE19, WDR73, CGNL1, FRMD5, UBL7, DISP2, CHRFAM7A, ARHGAP11B, DPH6, TICRR, CCDC32, KNSTRN, BMF, SHF, DUOXA1, RCCD1, CALML4, ARRDC4, LDHAL6B, UBE2Q2, CHST14, GOLM2, LACTB, TUBGCP5, DIS3L, TGM7, CATSPER2, LEO1, C15orf40, SENP8, MTFMT, SLC51B, TARS3, LRRC28, TMEM266, NIPA1, AGBL1, HYKK, WHAMM, FSD2, PLA2G4E, ASB7, TRIM69, PWAR1, TERB2, C2CD4A, LYSMD4, FAM81A, C15orf65, PGPEP1L, C15orf61, C15orf32, HAPLN3, MESP2, TMCO5A, SPATA8, NRG4, ZSCAN29, TTBK2, CDAN1, STRC, CFAP161, TBC1D21, DNAAF4, OTUD7A, SPRED1, ODF3L1, PGBD4, ADAL, EXD1, FSIP1, ADAMTS17, RHOV, SCAMP5, FAM227B, CT62, GRAMD2A, LCTL, UBR1, PATL2, CERS3, SPESP1, LPCAT4, PLA2G4F, LRRC57, LYSMD2, NUTM1, WDR72, SNX33, SLC24A5, PRTG, REC114, GOLGA6L2, OR4N4, SAXO2, FAM98B, PLA2G4D, LINC00928, GOLGA6L1, FBXL22, SNORD115-1, TMEM202, GLDN, GOLGA6A, TMC3, ZNF774, PWAR4, PWARSN, RBPMS2, ANKDD1A, ARPIN, USP50, TEX9, KIF7, ZNF710, HDDC3, CCDC9B, TNFAIP8L3, C2CD4B, INSYN1, OR4M2, KBTBD13, UBAP1L, SKOR1, ANKRD34C, GDPGP1, OR4F6, OR4F15, SHC4, CTXN2, LINC02694, LINC02915, ST20, FAM174B, DUOXA2, MIR184, MIR211, MIR9-3, GOLGA8B, EIF2AK4, UNC13C, CKMT1A, CPLX3, SERINC4, C15orf62, GOLGA8N, PAK6-AS1, PHGR1, SH2D7, GOLGA8J, GOLGA6C, GOLGA6D, GOLGA8M, SCARNA15, FBXO22-AS1, GOLGA6L6, GOLGA8O, GOLGA8H, PWRN1, PWRN2, SNORD116-1, LOC100128979, ANKRD63, JMJD7, PLA2G4B, POTEB2, PWAR6, ARPIN-AP3S2, ST20-MTHFS, MYZAP, POTEB, ACTC1, ADAM10, ACAN, ALDH1A3, ANPEP, ANXA2, APBA2, AQP9, B2M, BBS4, BCL2A1, BLM, BNC1, BNIP2, BUB1B, CA12, CAPN3, CHD2, CHRM5, CHRNA3, CHRNA5, CHRNA7, CHRNB4, CKMT1B, CLK3, CRABP1
not providedPathogenic
(Jan 1, 2013)
no assertion criteria providedVCV000614519
61.
GRCh37:
Chr15:34638237-42057083
Spindle cell sarcomaPathogenic
(Aug 27, 2018)
criteria provided, single submitterVCV000585332
62.
GRCh37:
Chr15:31115047-102354857
ACTC1, ADAM10, ACAN, ALDH1A3, ANPEP, ANXA2, AQP9, B2M, BBS4, BCL2A1, BLM, BNC1, BNIP2, BUB1B, CA12, CAPN3, CHD2, CHRM5, CHRNA3, CHRNA5, CHRNA7, CHRNB4, CKMT1B, CLK3, CRABP1, CSK, CSPG4, CTSH, CYP1A1, CYP1A2, CYP11A1, CYP19A1, DUT, EPB42, ETFA, FAH, FBN1, FES, FGF7, GABPB1, GALK2, GANC, GATM, GCHFR, PDIA3, GTF2A2, HDC, HEXA, ONECUT1, IDH2, IDH3A, IGF1R, IL16, IREB2, ISG20, ISLR, ITPKA, IVD, LIPC, LOXL1, LTK, SMAD3, SMAD6, MAN2A2, MAN2C1, MAP1A, MEF2A, MEIS2, MFAP1, MFGE8, TRPM1, MPI, MYO1E, MYO5A, MYO9A, NEDD4, NEO1, NMB, NTRK3, OAZ2, FURIN, PCSK6, PDE8A, PKM, PLCB2, PLIN1, PML, POLG, PPIB, MAPK6, MAP2K1, MAP2K5, PSMA4, PTPN9, RAB27A, RAD51, RASGRF1, RCN2, RLBP1, RORA, RPL4, RPLP1, RPS17, RYR3, SCG5, SH3GL3, SLC12A1, SNRPA1, SNX1, SORD, SPINT1, SRP14, TCF12, NR2F2, THBS1, TLE3, TP53BP1, TPM1, TYRO3, SLC30A4, AP3B2, ANP32A, ST8SIA2, SEMA7A, CILP, PIAS1, EIF3J, RAB11A, SNAP23, PEX11A, IQGAP1, ALDH1A2, HERC1, PSTPIP1, PRC1, USP8, CCNB2, SLC28A2, SLC28A1, SLC24A1, CCPG1, GCNT3, COPS2, TRIP4, TGM5, COX5A, STOML1, HOMER2, PIGB, KIF23, IGDCC3, ZNF592, PPIP5K1, AQR, SECISBP2L, PCLAF, ARHGAP11A, LCMT2, SV2B, ARNT2, USP3, SLC12A6, NR2E3, BCL2L10, HCN4, SCAMP2, SNUPN, PDCD7, TSPAN3, FEM1B, RASGRP1, SERF2, AP3S2, DENND4A, SNAPC5, HMG20A, CORO2B, SEMA4B, CIB2, CIB1, MTHFS, ARID3B, GNB5, ARPP19, CLPX, MORF4L1, SLC27A2, ABHD2, ADAMTS7, AKAP13, GPR176, CHP1, OIP5, ITGA11, CHSY1, BAHD1, FAN1, CEP152, MAPKBP1, GOLGA8A, ZNF609, TBC1D2B, RTF1, MESD, ACSBG1, MINAR1, MGA, DMXL2, SYNM, VPS39, TMED3, AP4E1, SEC11A, CCNDBP1, DAPK2, EID1, HYPK, ARIH1, SIN3A, TMEM87A, ULK3, RPAP1, GLCE, PYGO1, BLOC1S6, FBXO22, VPS33B, FOXB1, GREM1, MRPL46, RNU6-1, RNU5A-1, NPTN, RPUSD2, TUBGCP4, SLCO3A1, SCG3, TMOD3, TMOD2, EHD4, SCAPER, DUOX2, MYEF2, RPS27L, NDUFAF1, RSL24D1, NUSAP1, EMC4, RASL12, SPG21, SPTBN5, NGRN, RHCG, HACD3, CTDSPL2, KLF13, RAB8B, BTBD1, TM6SF1, DUOX1, CSNK1G1, ZFAND6, DLL4, INO80, MINDY2, RNF111, ZNF280D, TRPM7, VPS13C, LRRC49, PAQR5, PPP1R14D, DPP8, MTMR10, RPP25, COMMD4, PARP16, TIPIN, CLN6, ZNF770, ZSCAN2, ZWILCH, DET1, UACA, HAUS2, RMDN3, LINS1, DNAJC17, FANCI, IMP3, LARP6, MNS1, DNAJA4, NOP10, MCTP2, SELENOS, GOLGA6B, MESP1, UNC45A, MYO5C, FAM214A, EMC7, C15orf39, THAP10, PAK6, RGMA, WDR93, PARP6, DTWD1, KNL1, AVEN, FAM219B, ADAMTSL3, CEMIP, GJD2, STARD9, ALPK3, ISLR2, VPS18, IGDCC4, SQOR, ABHD17C, TLNRD1, PPCDC, CELF6, STRA6, ZNF106, KLHL25, CPEB1, AEN, CRTC3, IQCH, ISL2, RFX7, TTC23, MRPS11, SPATA5L1, CHAC1, NOX5, EFL1, NEIL1, ICE2, LRRK1, AAGAB, LMAN1L, KATNBL1, SLTM, PEAK1, SNX22, THSD4, ATP8B4, WDR76, TMEM62, SEMA6D, PIF1, CCDC33, EDC3, SPG11, TM2D3, ELL3, PLEKHO2, WDR61, CD276, STARD5, POLR2M, INTS14, ADPGK, APH1B, RAMAC, TLN2, CIAO2A, MEX3B, C15orf48, MEGF11, CDIN1, SPPL2A, LINGO1, ZFYVE19, WDR73, CGNL1, FRMD5, UBL7, DISP2, DPH6, TICRR, CCDC32, KNSTRN, BMF, SHF, DUOXA1, RCCD1, CALML4, ARRDC4, LDHAL6B, UBE2Q2, CHST14, GOLM2, LACTB, DIS3L, TGM7, CATSPER2, LEO1, C15orf40, SENP8, MTFMT, SLC51B, TARS3, LRRC28, TMEM266, AGBL1, HYKK, WHAMM, FSD2, PLA2G4E, ASB7, TRIM69, TERB2, C2CD4A, LYSMD4, FAM81A, C15orf65, PGPEP1L, C15orf61, C15orf32, HAPLN3, MESP2, TMCO5A, SPATA8, NRG4, ZSCAN29, TTBK2, CDAN1, STRC, CFAP161, TBC1D21, DNAAF4, OTUD7A, SPRED1, ODF3L1, PGBD4, ADAL, EXD1, FSIP1, ADAMTS17, RHOV, SCAMP5, FAM227B, CT62, GRAMD2A, LCTL, UBR1, PATL2, CERS3, SPESP1, LPCAT4, PLA2G4F, LRRC57, LYSMD2, NUTM1, WDR72, SNX33, SLC24A5, PRTG, REC114, SAXO2, FAM98B, PLA2G4D, LINC00928, FBXL22, TMEM202, GLDN, GOLGA6A, TMC3, ZNF774, RBPMS2, ANKDD1A, ARPIN, USP50, TEX9, KIF7, ZNF710, HDDC3, CCDC9B, TNFAIP8L3, C2CD4B, INSYN1, KBTBD13, UBAP1L, SKOR1, ANKRD34C, GDPGP1, OR4F6, SHC4, CTXN2, LINC02694, LINC02915, ST20, FAM174B, DUOXA2, MIR184, MIR211, MIR9-3, GOLGA8B, EIF2AK4, UNC13C, CKMT1A, CPLX3, SERINC4, C15orf62, GOLGA8N, PAK6-AS1, PHGR1, SH2D7, GOLGA6C, GOLGA6D, SCARNA15, FBXO22-AS1, GOLGA8O, LOC100128979, ANKRD63, JMJD7, PLA2G4B, ARPIN-AP3S2, ST20-MTHFS, MYZAP
not providedPathogenic
(Apr 5, 2018)
criteria provided, single submitterVCV000560049
63.
GRCh37:
Chr15:22770422-102429112
ACTC1, ADAM10, ACAN, ALDH1A3, ANPEP, ANXA2, APBA2, AQP9, B2M, BBS4, BCL2A1, BLM, BNC1, BNIP2, BUB1B, CA12, CAPN3, CHD2, CHRM5, CHRNA3, CHRNA5, CHRNA7, CHRNB4, CKMT1B, CLK3, CRABP1, CSK, CSPG4, CTSH, CYP1A1, CYP1A2, CYP11A1, CYP19A1, DUT, EPB42, ETFA, FAH, FBN1, FES, FGF7, GABPB1, GABRA5, GABRB3, GABRG3, GALK2, GANC, GATM, GCHFR, PDIA3, GTF2A2, HDC, HEXA, ONECUT1, IDH2, IDH3A, IGF1R, IL16, IPW, IREB2, ISG20, ISLR, ITPKA, IVD, LIPC, LOXL1, LTK, SMAD3, SMAD6, MAN2A2, MAN2C1, MAP1A, MEF2A, MEIS2, MFAP1, MFGE8, TRPM1, MPI, MYO1E, MYO5A, MYO9A, NDN, NEDD4, NEO1, NMB, NTRK3, OAZ2, OCA2, FURIN, PCSK6, PDE8A, PKM, PLCB2, PLIN1, PML, POLG, PPIB, MAPK6, MAP2K1, MAP2K5, PSMA4, PTPN9, RAB27A, RAD51, RASGRF1, RCN2, RLBP1, RORA, RPL4, RPLP1, RPS17, RYR3, SCG5, SH3GL3, SLC12A1, SNRPA1, SNRPN, SNX1, SORD, SPINT1, SRP14, TCF12, NR2F2, THBS1, TJP1, TLE3, TP53BP1, TPM1, TYRO3, UBE3A, MKRN3, SLC30A4, AP3B2, PWAR5, ANP32A, ST8SIA2, SEMA7A, CILP, PIAS1, EIF3J, RAB11A, SNAP23, PEX11A, IQGAP1, ALDH1A2, HERC2, HERC1, SNURF, PSTPIP1, PRC1, USP8, CCNB2, SLC28A2, SLC28A1, SLC24A1, CCPG1, GCNT3, COPS2, TRIP4, TGM5, COX5A, STOML1, HOMER2, PIGB, KIF23, IGDCC3, ZNF592, PPIP5K1, AQR, SECISBP2L, PCLAF, ARHGAP11A, LCMT2, SV2B, ARNT2, USP3, SLC12A6, NR2E3, BCL2L10, HCN4, SCAMP2, SNUPN, PDCD7, TSPAN3, FEM1B, RASGRP1, SERF2, AP3S2, DENND4A, SNAPC5, HMG20A, CORO2B, SEMA4B, CIB2, CIB1, MTHFS, ARID3B, GNB5, ARPP19, CLPX, MORF4L1, SLC27A2, ABHD2, ADAMTS7, AKAP13, GPR176, CHP1, OIP5, ITGA11, CHSY1, BAHD1, FAN1, CEP152, MAPKBP1, GOLGA8A, ZNF609, TBC1D2B, RTF1, MESD, CYFIP1, ACSBG1, MINAR1, MGA, DMXL2, SYNM, VPS39, FAM189A1, TMED3, AP4E1, SEC11A, CCNDBP1, DAPK2, EID1, NPAP1, HYPK, ARIH1, SIN3A, TMEM87A, ULK3, RPAP1, GLCE, PYGO1, BLOC1S6, FBXO22, VPS33B, GREM1, MRPL46, RNU6-1, RNU5A-1, NPTN, FOXB1, RPUSD2, TUBGCP4, SLCO3A1, SCG3, TMOD3, TMOD2, EHD4, SCAPER, DUOX2, MYEF2, RPS27L, NDUFAF1, RSL24D1, NUSAP1, EMC4, RASL12, SPG21, SPTBN5, NGRN, RHCG, HACD3, CTDSPL2, KLF13, RAB8B, BTBD1, TM6SF1, DUOX1, CSNK1G1, ZFAND6, MAGEL2, DLL4, INO80, MINDY2, RNF111, ZNF280D, TRPM7, VPS13C, LRRC49, PAQR5, PPP1R14D, DPP8, MTMR10, RPP25, COMMD4, PARP16, TIPIN, CLN6, ZNF770, ZSCAN2, ZWILCH, DET1, UACA, HAUS2, RMDN3, LINS1, DNAJC17, FANCI, IMP3, LARP6, MNS1, DNAJA4, NOP10, MCTP2, SELENOS, GOLGA6B, MESP1, UNC45A, MYO5C, NSMCE3, FAM214A, EMC7, C15orf39, THAP10, PAK6, RGMA, WDR93, PARP6, DTWD1, KNL1, AVEN, FAM219B, ADAMTSL3, ATP10A, CEMIP, GJD2, STARD9, ALPK3, ISLR2, VPS18, IGDCC4, SQOR, ABHD17C, TLNRD1, PPCDC, CELF6, STRA6, ZNF106, KLHL25, CPEB1, AEN, CRTC3, IQCH, ISL2, RFX7, TTC23, MRPS11, SPATA5L1, CHAC1, NOX5, EFL1, NEIL1, ICE2, LRRK1, AAGAB, LMAN1L, KATNBL1, SLTM, PEAK1, SNX22, THSD4, ATP8B4, WDR76, TMEM62, SEMA6D, PIF1, CCDC33, EDC3, SPG11, TM2D3, ELL3, PLEKHO2, WDR61, CD276, STARD5, POLR2M, INTS14, NIPA2, ADPGK, APH1B, RAMAC, TLN2, CIAO2A, MEX3B, C15orf48, MEGF11, CDIN1, SPPL2A, LINGO1, ZFYVE19, WDR73, CGNL1, FRMD5, UBL7, DISP2, CHRFAM7A, ARHGAP11B, DPH6, TICRR, CCDC32, KNSTRN, BMF, SHF, DUOXA1, RCCD1, CALML4, ARRDC4, LDHAL6B, UBE2Q2, CHST14, GOLM2, LACTB, TUBGCP5, DIS3L, TGM7, CATSPER2, LEO1, C15orf40, SENP8, MTFMT, SLC51B, TARS3, LRRC28, TMEM266, NIPA1, AGBL1, HYKK, WHAMM, FSD2, PLA2G4E, ASB7, TRIM69, PWAR1, TERB2, C2CD4A, LYSMD4, FAM81A, C15orf65, PGPEP1L, C15orf61, C15orf32, HAPLN3, MESP2, TMCO5A, SPATA8, NRG4, ZSCAN29, TTBK2, CDAN1, STRC, CFAP161, TBC1D21, DNAAF4, OTUD7A, SPRED1, ODF3L1, PGBD4, ADAL, EXD1, FSIP1, ADAMTS17, RHOV, SCAMP5, FAM227B, CT62, GRAMD2A, LCTL, UBR1, PATL2, CERS3, SPESP1, LPCAT4, PLA2G4F, LRRC57, LYSMD2, NUTM1, WDR72, SNX33, SLC24A5, PRTG, REC114, GOLGA6L2, SAXO2, FAM98B, PLA2G4D, LINC00928, FBXL22, SNORD115-1, TMEM202, GLDN, GOLGA6A, TMC3, ZNF774, PWAR4, PWARSN, RBPMS2, ANKDD1A, ARPIN, USP50, TEX9, KIF7, ZNF710, HDDC3, CCDC9B, TNFAIP8L3, C2CD4B, INSYN1, KBTBD13, UBAP1L, SKOR1, ANKRD34C, GDPGP1, OR4F6, OR4F15, SHC4, CTXN2, LINC02694, LINC02915, ST20, FAM174B, DUOXA2, MIR184, MIR211, MIR9-3, GOLGA8B, EIF2AK4, UNC13C, CKMT1A, CPLX3, SERINC4, C15orf62, GOLGA8N, PAK6-AS1, PHGR1, SH2D7, GOLGA8J, GOLGA6C, GOLGA6D, GOLGA8M, SCARNA15, FBXO22-AS1, GOLGA8O, GOLGA8H, PWRN1, PWRN2, SNORD116-1, LOC100128979, ANKRD63, JMJD7, PLA2G4B, PWAR6, ARPIN-AP3S2, ST20-MTHFS, MYZAP
See casesPathogenic
(Dec 2, 2014)
no assertion criteria providedVCV000442893
64.
GRCh37:
Chr15:22770422-102429112
ACTC1, ADAM10, ACAN, ALDH1A3, ANPEP, ANXA2, APBA2, AQP9, B2M, BBS4, BCL2A1, BLM, BNC1, BNIP2, BUB1B, CA12, CAPN3, CHD2, CHRM5, CHRNA3, CHRNA5, CHRNA7, CHRNB4, CKMT1B, CLK3, CRABP1, CSK, CSPG4, CTSH, CYP1A1, CYP1A2, CYP11A1, CYP19A1, DUT, EPB42, ETFA, FAH, FBN1, FES, FGF7, GABPB1, GABRA5, GABRB3, GABRG3, GALK2, GANC, GATM, GCHFR, PDIA3, GTF2A2, HDC, HEXA, ONECUT1, IDH2, IDH3A, IGF1R, IL16, IPW, IREB2, ISG20, ISLR, ITPKA, IVD, LIPC, LOXL1, LTK, SMAD3, SMAD6, MAN2A2, MAN2C1, MAP1A, MEF2A, MEIS2, MFAP1, MFGE8, TRPM1, MPI, MYO1E, MYO5A, MYO9A, NDN, NEDD4, NEO1, NMB, NTRK3, OAZ2, OCA2, FURIN, PCSK6, PDE8A, PKM, PLCB2, PLIN1, PML, POLG, PPIB, MAPK6, MAP2K1, MAP2K5, PSMA4, PTPN9, RAB27A, RAD51, RASGRF1, RCN2, RLBP1, RORA, RPL4, RPLP1, RPS17, RYR3, SCG5, SH3GL3, SLC12A1, SNRPA1, SNRPN, SNX1, SORD, SPINT1, SRP14, TCF12, NR2F2, THBS1, TJP1, TLE3, TP53BP1, TPM1, TYRO3, UBE3A, MKRN3, SLC30A4, AP3B2, PWAR5, ANP32A, ST8SIA2, SEMA7A, CILP, PIAS1, EIF3J, RAB11A, SNAP23, PEX11A, IQGAP1, ALDH1A2, HERC2, HERC1, SNURF, PSTPIP1, PRC1, USP8, CCNB2, SLC28A2, SLC28A1, SLC24A1, CCPG1, GCNT3, COPS2, TRIP4, TGM5, COX5A, STOML1, HOMER2, PIGB, KIF23, IGDCC3, ZNF592, PPIP5K1, AQR, SECISBP2L, PCLAF, ARHGAP11A, LCMT2, SV2B, ARNT2, USP3, SLC12A6, NR2E3, BCL2L10, HCN4, SCAMP2, SNUPN, PDCD7, TSPAN3, FEM1B, RASGRP1, SERF2, AP3S2, DENND4A, SNAPC5, HMG20A, CORO2B, SEMA4B, CIB2, CIB1, MTHFS, ARID3B, GNB5, ARPP19, CLPX, MORF4L1, SLC27A2, ABHD2, ADAMTS7, AKAP13, GPR176, CHP1, OIP5, ITGA11, CHSY1, BAHD1, FAN1, CEP152, MAPKBP1, GOLGA8A, ZNF609, TBC1D2B, RTF1, MESD, CYFIP1, ACSBG1, MINAR1, MGA, DMXL2, SYNM, VPS39, FAM189A1, TMED3, AP4E1, SEC11A, CCNDBP1, DAPK2, EID1, NPAP1, HYPK, ARIH1, SIN3A, TMEM87A, ULK3, RPAP1, GLCE, PYGO1, BLOC1S6, FBXO22, VPS33B, GREM1, MRPL46, RNU6-1, RNU5A-1, NPTN, FOXB1, RPUSD2, TUBGCP4, SLCO3A1, SCG3, TMOD3, TMOD2, EHD4, SCAPER, DUOX2, MYEF2, RPS27L, NDUFAF1, RSL24D1, NUSAP1, EMC4, RASL12, SPG21, SPTBN5, NGRN, RHCG, HACD3, CTDSPL2, KLF13, RAB8B, BTBD1, TM6SF1, DUOX1, CSNK1G1, ZFAND6, MAGEL2, DLL4, INO80, MINDY2, RNF111, ZNF280D, TRPM7, VPS13C, LRRC49, PAQR5, PPP1R14D, DPP8, MTMR10, RPP25, COMMD4, PARP16, TIPIN, CLN6, ZNF770, ZSCAN2, ZWILCH, DET1, UACA, HAUS2, RMDN3, LINS1, DNAJC17, FANCI, IMP3, LARP6, MNS1, DNAJA4, NOP10, MCTP2, SELENOS, GOLGA6B, MESP1, UNC45A, MYO5C, NSMCE3, FAM214A, EMC7, C15orf39, THAP10, PAK6, RGMA, WDR93, PARP6, DTWD1, KNL1, AVEN, FAM219B, ADAMTSL3, ATP10A, CEMIP, GJD2, STARD9, ALPK3, ISLR2, VPS18, IGDCC4, SQOR, ABHD17C, TLNRD1, PPCDC, CELF6, STRA6, ZNF106, KLHL25, CPEB1, AEN, CRTC3, IQCH, ISL2, RFX7, TTC23, MRPS11, SPATA5L1, CHAC1, NOX5, EFL1, NEIL1, ICE2, LRRK1, AAGAB, LMAN1L, KATNBL1, SLTM, PEAK1, SNX22, THSD4, ATP8B4, WDR76, TMEM62, SEMA6D, PIF1, CCDC33, EDC3, SPG11, TM2D3, ELL3, PLEKHO2, WDR61, CD276, STARD5, POLR2M, INTS14, NIPA2, ADPGK, APH1B, RAMAC, TLN2, CIAO2A, MEX3B, C15orf48, MEGF11, CDIN1, SPPL2A, LINGO1, ZFYVE19, WDR73, CGNL1, FRMD5, UBL7, DISP2, CHRFAM7A, ARHGAP11B, DPH6, TICRR, CCDC32, KNSTRN, BMF, SHF, DUOXA1, RCCD1, CALML4, ARRDC4, LDHAL6B, UBE2Q2, CHST14, GOLM2, LACTB, TUBGCP5, DIS3L, TGM7, CATSPER2, LEO1, C15orf40, SENP8, MTFMT, SLC51B, TARS3, LRRC28, TMEM266, NIPA1, AGBL1, HYKK, WHAMM, FSD2, PLA2G4E, ASB7, TRIM69, PWAR1, TERB2, C2CD4A, LYSMD4, FAM81A, C15orf65, PGPEP1L, C15orf61, C15orf32, HAPLN3, MESP2, TMCO5A, SPATA8, NRG4, ZSCAN29, TTBK2, CDAN1, STRC, CFAP161, TBC1D21, DNAAF4, OTUD7A, SPRED1, ODF3L1, PGBD4, ADAL, EXD1, FSIP1, ADAMTS17, RHOV, SCAMP5, FAM227B, CT62, GRAMD2A, LCTL, UBR1, PATL2, CERS3, SPESP1, LPCAT4, PLA2G4F, LRRC57, LYSMD2, NUTM1, WDR72, SNX33, SLC24A5, PRTG, REC114, GOLGA6L2, SAXO2, FAM98B, PLA2G4D, LINC00928, FBXL22, SNORD115-1, TMEM202, GLDN, GOLGA6A, TMC3, ZNF774, PWAR4, PWARSN, RBPMS2, ANKDD1A, ARPIN, USP50, TEX9, KIF7, ZNF710, HDDC3, CCDC9B, TNFAIP8L3, C2CD4B, INSYN1, KBTBD13, UBAP1L, SKOR1, ANKRD34C, GDPGP1, OR4F6, OR4F15, SHC4, CTXN2, LINC02694, LINC02915, ST20, FAM174B, DUOXA2, MIR184, MIR211, MIR9-3, GOLGA8B, EIF2AK4, UNC13C, CKMT1A, CPLX3, SERINC4, C15orf62, GOLGA8N, PAK6-AS1, PHGR1, SH2D7, GOLGA8J, GOLGA6C, GOLGA6D, GOLGA8M, SCARNA15, FBXO22-AS1, GOLGA8O, GOLGA8H, PWRN1, PWRN2, SNORD116-1, LOC100128979, ANKRD63, JMJD7, PLA2G4B, PWAR6, ARPIN-AP3S2, ST20-MTHFS, MYZAP
See casesPathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000442892
65.
GRCh37:
Chr15:37279667-37338453
MEIS2See casesLikely pathogenic
(Jul 6, 2015)
no assertion criteria providedVCV000441671
66.
GRCh37:
Chr15:24179003-37238599
See casesPathogenicno assertion criteria providedVCV000396952
67.
GRCh37:
Chr15:36905047-40037396
MEIS2, THBS1, RASGRP1, CDIN1, TMCO5A, SPRED1, FSIP1, FAM98B, LINC02694, LINC02915See casesPathogenicno assertion criteria providedVCV000395223
68.
GRCh37:
Chr15:20733395-102511616
ACTC1, ADAM10, ACAN, ALDH1A3, ANPEP, ANXA2, APBA2, AQP9, B2M, BBS4, BCL2A1, BLM, BNC1, BNIP2, BUB1B, CA12, CAPN3, CHD2, CHRM5, CHRNA3, CHRNA5, CHRNA7, CHRNB4, CKMT1B, CLK3, CRABP1, CSK, CSPG4, CTSH, CYP1A1, CYP1A2, CYP11A1, CYP19A1, DUT, EPB42, ETFA, FAH, FBN1, FES, FGF7, GABPB1, GABRA5, GABRB3, GABRG3, GALK2, GANC, GATM, GCHFR, PDIA3, GTF2A2, HDC, HEXA, ONECUT1, IDH2, IDH3A, IGF1R, IL16, IPW, IREB2, ISG20, ISLR, ITPKA, IVD, LIPC, LOXL1, LTK, SMAD3, SMAD6, MAN2A2, MAN2C1, MAP1A, MEF2A, MEIS2, MFAP1, MFGE8, TRPM1, MPI, MYO1E, MYO5A, MYO9A, NDN, NEDD4, NEO1, NMB, NTRK3, OAZ2, OCA2, FURIN, PCSK6, PDE8A, PKM, PLCB2, PLIN1, PML, POLG, PPIB, MAPK6, MAP2K1, MAP2K5, PSMA4, PTPN9, RAB27A, RAD51, RASGRF1, RCN2, RLBP1, RORA, RPL4, RPLP1, RPS17, RYR3, SCG5, SH3GL3, SLC12A1, SNRPA1, SNRPN, SNX1, SORD, SPINT1, SRP14, TCF12, NR2F2, THBS1, TJP1, TLE3, TP53BP1, TPM1, TYRO3, UBE3A, MKRN3, SLC30A4, AP3B2, PWAR5, ANP32A, ST8SIA2, SEMA7A, CILP, PIAS1, EIF3J, RAB11A, SNAP23, PEX11A, IQGAP1, ALDH1A2, HERC2, HERC1, SNURF, PSTPIP1, PRC1, USP8, CCNB2, SLC28A2, SLC28A1, SLC24A1, CCPG1, GCNT3, COPS2, TRIP4, TGM5, COX5A, STOML1, HOMER2, PIGB, KIF23, IGDCC3, ZNF592, PPIP5K1, AQR, SECISBP2L, PCLAF, ARHGAP11A, LCMT2, SV2B, ARNT2, USP3, SLC12A6, NR2E3, BCL2L10, HCN4, SCAMP2, SNUPN, PDCD7, TSPAN3, FEM1B, RASGRP1, SERF2, AP3S2, DENND4A, SNAPC5, HMG20A, CORO2B, SEMA4B, CIB2, CIB1, MTHFS, ARID3B, GNB5, ARPP19, CLPX, MORF4L1, SLC27A2, ABHD2, ADAMTS7, AKAP13, GPR176, CHP1, OIP5, ITGA11, CHSY1, BAHD1, FAN1, CEP152, MAPKBP1, GOLGA8A, ZNF609, TBC1D2B, RTF1, MESD, CYFIP1, ACSBG1, MINAR1, MGA, DMXL2, SYNM, VPS39, FAM189A1, TMED3, AP4E1, SEC11A, CCNDBP1, DAPK2, EID1, NPAP1, HYPK, ARIH1, SIN3A, TMEM87A, ULK3, RPAP1, GLCE, PYGO1, BLOC1S6, FBXO22, VPS33B, GREM1, MRPL46, OR4F4, RNU6-1, RNU5A-1, NPTN, FOXB1, RPUSD2, TUBGCP4, SLCO3A1, SCG3, TMOD3, TMOD2, EHD4, SCAPER, DUOX2, MYEF2, RPS27L, NDUFAF1, RSL24D1, NUSAP1, EMC4, RASL12, SPG21, SPTBN5, NGRN, RHCG, HACD3, CTDSPL2, KLF13, RAB8B, BTBD1, TM6SF1, DUOX1, CSNK1G1, ZFAND6, MAGEL2, DLL4, INO80, MINDY2, RNF111, ZNF280D, TRPM7, VPS13C, LRRC49, PAQR5, PPP1R14D, DPP8, MTMR10, RPP25, COMMD4, PARP16, TIPIN, CLN6, ZNF770, ZSCAN2, ZWILCH, DET1, UACA, HAUS2, RMDN3, LINS1, DNAJC17, FANCI, IMP3, LARP6, MNS1, DNAJA4, NOP10, MCTP2, SELENOS, GOLGA6B, MESP1, UNC45A, MYO5C, NSMCE3, FAM214A, EMC7, C15orf39, THAP10, PAK6, RGMA, WDR93, PARP6, DTWD1, KNL1, AVEN, FAM219B, ADAMTSL3, ATP10A, CEMIP, GJD2, STARD9, ALPK3, ISLR2, VPS18, IGDCC4, SQOR, ABHD17C, TLNRD1, PPCDC, CELF6, STRA6, ZNF106, KLHL25, CPEB1, AEN, CRTC3, IQCH, ISL2, RFX7, TTC23, MRPS11, SPATA5L1, CHAC1, NOX5, EFL1, NEIL1, ICE2, LRRK1, AAGAB, LMAN1L, KATNBL1, SLTM, PEAK1, SNX22, THSD4, ATP8B4, WDR76, TMEM62, SEMA6D, PIF1, CCDC33, EDC3, SPG11, TM2D3, ELL3, PLEKHO2, WDR61, CD276, STARD5, POLR2M, INTS14, NIPA2, ADPGK, APH1B, RAMAC, TLN2, CIAO2A, MEX3B, C15orf48, MEGF11, CDIN1, SPPL2A, LINGO1, ZFYVE19, WDR73, CGNL1, FRMD5, UBL7, DISP2, CHRFAM7A, ARHGAP11B, DPH6, TICRR, CCDC32, KNSTRN, BMF, SHF, DUOXA1, RCCD1, CALML4, ARRDC4, LDHAL6B, UBE2Q2, CHST14, GOLM2, LACTB, TUBGCP5, DIS3L, TGM7, CATSPER2, LEO1, C15orf40, SENP8, MTFMT, SLC51B, TARS3, LRRC28, TMEM266, NIPA1, AGBL1, HYKK, WHAMM, FSD2, PLA2G4E, ASB7, TRIM69, PWAR1, TERB2, C2CD4A, LYSMD4, FAM81A, C15orf65, PGPEP1L, C15orf61, C15orf32, HAPLN3, MESP2, TMCO5A, SPATA8, NRG4, ZSCAN29, TTBK2, CDAN1, STRC, CFAP161, TBC1D21, DNAAF4, OTUD7A, SPRED1, ODF3L1, PGBD4, ADAL, EXD1, FSIP1, ADAMTS17, RHOV, SCAMP5, FAM227B, CT62, GRAMD2A, LCTL, UBR1, PATL2, CERS3, SPESP1, LPCAT4, PLA2G4F, LRRC57, LYSMD2, NUTM1, WDR72, SNX33, SLC24A5, PRTG, REC114, GOLGA6L2, OR4N4, SAXO2, FAM98B, PLA2G4D, LINC00928, GOLGA6L1, FBXL22, SNORD115-1, TMEM202, GLDN, GOLGA6A, TMC3, ZNF774, PWAR4, PWARSN, RBPMS2, ANKDD1A, ARPIN, USP50, TEX9, KIF7, ZNF710, HDDC3, CCDC9B, TNFAIP8L3, C2CD4B, INSYN1, OR4M2, KBTBD13, UBAP1L, SKOR1, ANKRD34C, GDPGP1, OR4F6, OR4F15, SHC4, CTXN2, LINC02694, LINC02915, ST20, FAM174B, DUOXA2, MIR184, MIR211, MIR9-3, GOLGA8B, EIF2AK4, UNC13C, CKMT1A, CPLX3, SERINC4, C15orf62, GOLGA8N, PAK6-AS1, PHGR1, SH2D7, GOLGA8J, GOLGA6C, GOLGA6D, GOLGA8M, SCARNA15, FBXO22-AS1, GOLGA6L6, GOLGA8O, GOLGA8H, PWRN1, PWRN2, SNORD116-1, LOC100128979, ANKRD63, JMJD7, PLA2G4B, POTEB2, PWAR6, ARPIN-AP3S2, ST20-MTHFS, MYZAP, POTEB
See casesPathogenicno assertion criteria providedVCV000395145
69.
MEIS2Cleft palate, cardiac defects, and mental retardationPathogenic
(Jul 1, 2014)
no assertion criteria providedVCV000427214
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