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Items: 93

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr15:43015862
GRCh38:
Chr15:42723664
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr15:43015901
GRCh38:
Chr15:42723703
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr15:43015907-43015910
GRCh38:
Chr15:42723709-42723712
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr15:43015967
GRCh38:
Chr15:42723769
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr15:43016089
GRCh38:
Chr15:42723891
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr15:43016224-43016226
GRCh38:
Chr15:42724026-42724028
CDAN1Congenital dyserythropoietic anemiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr15:43016340
GRCh38:
Chr15:42724142
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr15:43016433-43016436
GRCh38:
Chr15:42724235-42724238
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr15:43016466
GRCh38:
Chr15:42724268
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr15:43016475
GRCh38:
Chr15:42724277
CDAN1Congenital dyserythropoietic anemiaBenign
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr15:43016547
GRCh38:
Chr15:42724349
CDAN1Congenital dyserythropoietic anemiaBenign
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr15:43016631
GRCh38:
Chr15:42724433
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr15:43016783
GRCh38:
Chr15:42724585
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr15:43016825
GRCh38:
Chr15:42724627
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr15:43017426
GRCh38:
Chr15:42725228
CDAN1not specified, Congenital dyserythropoietic anemiaBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr15:43017676
GRCh38:
Chr15:42725478
CDAN1not specified, Congenital dyserythropoietic anemiaBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr15:43017748
GRCh38:
Chr15:42725550
CDAN1Congenital dyserythropoietic anemia, type IPathogenic
(Sep 1, 2011)
no assertion criteria provided
18.
GRCh37:
Chr15:43017753
GRCh38:
Chr15:42725555
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr15:43017805
GRCh38:
Chr15:42725607
CDAN1not specifiedUncertain significance
(Aug 10, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr15:43018503
GRCh38:
Chr15:42726305
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr15:43018518
GRCh38:
Chr15:42726320
CDAN1Congenital dyserythropoietic anemiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr15:43018559
GRCh38:
Chr15:42726361
CDAN1not specified, Congenital dyserythropoietic anemiaBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr15:43018570
GRCh38:
Chr15:42726372
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr15:43018584
GRCh38:
Chr15:42726386
CDAN1Congenital dyserythropoietic anemia, type IPathogenic
(Sep 1, 2011)
no assertion criteria provided
25.
GRCh37:
Chr15:43018588
GRCh38:
Chr15:42726390
CDAN1Congenital dyserythropoietic anemia, type IPathogenic
(Sep 1, 2011)
no assertion criteria provided
26.
GRCh37:
Chr15:43019931
GRCh38:
Chr15:42727733
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr15:43019980
GRCh38:
Chr15:42727782
CDAN1Congenital dyserythropoietic anemiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr15:43020228
GRCh38:
Chr15:42728030
CDAN1not specified, Congenital dyserythropoietic anemiaConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
29.
GRCh37:
Chr15:43020236
GRCh38:
Chr15:42728038
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr15:43020402
GRCh38:
Chr15:42728204
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr15:43020434
GRCh38:
Chr15:42728236
CDAN1not specified, not provided, Congenital dyserythropoietic anemia
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr15:43020476
GRCh38:
Chr15:42728278
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr15:43020904
GRCh38:
Chr15:42728706
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr15:43020954
GRCh38:
Chr15:42728756
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr15:43020983
GRCh38:
Chr15:42728785
CDAN1Congenital dyserythropoietic anemia, type I, not specified, Congenital dyserythropoietic anemia
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr15:43021264
GRCh38:
Chr15:42729066
CDAN1Congenital dyserythropoietic anemia, type IPathogenic
(Dec 1, 2002)
no assertion criteria provided
37.
GRCh37:
Chr15:43021290
GRCh38:
Chr15:42729092
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr15:43021452
GRCh38:
Chr15:42729254
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr15:43021477
GRCh38:
Chr15:42729279
CDAN1not specifiedUncertain significance
(Jun 12, 2017)
criteria provided, single submitter
40.
GRCh37:
Chr15:43021505
GRCh38:
Chr15:42729307
CDAN1not specified, Congenital dyserythropoietic anemiaConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
41.
GRCh37:
Chr15:43021523
GRCh38:
Chr15:42729325
CDAN1Congenital dyserythropoietic anemiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr15:43021540
GRCh38:
Chr15:42729342
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr15:43021563
GRCh38:
Chr15:42729365
CDAN1not specified, Congenital dyserythropoietic anemiaBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr15:43021767
GRCh38:
Chr15:42729569
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr15:43021812
GRCh38:
Chr15:42729614
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr15:43021986
GRCh38:
Chr15:42729788
CDAN1not specified, Congenital dyserythropoietic anemiaBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr15:43022379
GRCh38:
Chr15:42730181
CDAN1not specifiedUncertain significance
(Jun 12, 2017)
criteria provided, single submitter
48.
GRCh37:
Chr15:43022391
GRCh38:
Chr15:42730193
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr15:43022776
GRCh38:
Chr15:42730578
CDAN1not specifiedLikely benigncriteria provided, single submitter
50.
GRCh37:
Chr15:43022830
GRCh38:
Chr15:42730632
CDAN1Congenital dyserythropoietic anemia, type IPathogenic
(Sep 1, 2011)
no assertion criteria provided
51.
GRCh37:
Chr15:43022911
GRCh38:
Chr15:42730713
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr15:43022954
GRCh38:
Chr15:42730756
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr15:43022955
GRCh38:
Chr15:42730757
CDAN1Congenital dyserythropoietic anemia, type I, not providedPathogenic/Likely pathogenic
(Aug 14, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr15:43022970
GRCh38:
Chr15:42730772
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr15:43023112
GRCh38:
Chr15:42730914
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
56.
GRCh37:
Chr15:43023161
GRCh38:
Chr15:42730963
CDAN1not specified, Congenital dyserythropoietic anemiaBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr15:43023162
GRCh38:
Chr15:42730964
CDAN1Congenital dyserythropoietic anemiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr15:43023163
GRCh38:
Chr15:42730965
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
59.
GRCh37:
Chr15:43023404
GRCh38:
Chr15:42731206
CDAN1Congenital dyserythropoietic anemia, type IPathogenic
(Aug 1, 2005)
no assertion criteria provided
60.
GRCh37:
Chr15:43023430
GRCh38:
Chr15:42731232
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr15:43023473
GRCh38:
Chr15:42731275
CDAN1Congenital dyserythropoietic anemia, type IPathogenic
(Jul 1, 2003)
no assertion criteria provided
62.
GRCh37:
Chr15:43023482
GRCh38:
Chr15:42731284
CDAN1Congenital dyserythropoietic anemia, type I, not specified, Congenital dyserythropoietic anemia
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr15:43023503
GRCh38:
Chr15:42731305
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
64.
GRCh37:
Chr15:43023539
GRCh38:
Chr15:42731341
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
65.
GRCh37:
Chr15:43023990
GRCh38:
Chr15:42731792
CDAN1not specifiedUncertain significance
(Oct 3, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr15:43024540
GRCh38:
Chr15:42732342
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr15:43024564-43024569
GRCh38:
Chr15:42732366-42732371
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
68.
GRCh37:
Chr15:43026181
GRCh38:
Chr15:42733983
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr15:43027315-43027317
GRCh38:
Chr15:42735117-42735119
CDAN1Congenital dyserythropoietic anemia, type IPathogenic
(Jun 15, 2006)
no assertion criteria provided
70.
GRCh37:
Chr15:43027387
GRCh38:
Chr15:42735189
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
71.
GRCh37:
Chr15:43027835
GRCh38:
Chr15:42735637
CDAN1not specified, Congenital dyserythropoietic anemiaBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr15:43027880
GRCh38:
Chr15:42735682
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr15:43028059
GRCh38:
Chr15:42735861
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
74.
GRCh37:
Chr15:43028511
GRCh38:
Chr15:42736313
CDAN1not specified, Congenital dyserythropoietic anemiaBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr15:43028592
GRCh38:
Chr15:42736394
CDAN1not specified, Congenital dyserythropoietic anemiaBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr15:43028626
GRCh38:
Chr15:42736428
CDAN1not specified, Congenital dyserythropoietic anemiaBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr15:43028683
GRCh38:
Chr15:42736485
CDAN1Congenital dyserythropoietic anemia, type I, Congenital dyserythropoietic anemiaBenign/Likely benign
(Jun 14, 2016)
criteria provided, single submitter
78.
GRCh37:
Chr15:43028749
GRCh38:
Chr15:42736551
CDAN1Congenital dyserythropoietic anemia, type I, not specified, Congenital dyserythropoietic anemia
Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr15:43028813
GRCh38:
Chr15:42736615
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
80.
GRCh37:
Chr15:43028814
GRCh38:
Chr15:42736616
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
81.
GRCh37:
Chr15:43028832
GRCh38:
Chr15:42736634
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
82.
GRCh37:
Chr15:43028912
GRCh38:
Chr15:42736714
CDAN1Congenital dyserythropoietic anemiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
83.
GRCh37:
Chr15:43028913
GRCh38:
Chr15:42736715
CDAN1Congenital dyserythropoietic anemia, type I, not providedPathogenic/Likely pathogenic
(Aug 27, 2016)
criteria provided, single submitter
84.
GRCh37:
Chr15:43029244
GRCh38:
Chr15:42737046
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
85.
GRCh37:
Chr15:43029304
GRCh38:
Chr15:42737106
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
86.
GRCh37:
Chr15:43029314
GRCh38:
Chr15:42737116
CDAN1Congenital dyserythropoietic anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
87.
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, KIAA1024, 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, SCAND2P, 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, FAM103A1, TLN2, FAM96A, MEX3B, C15orf48, MEGF11, C15orf41, SPPL2A, LINGO1, ZFYVE19, WDR73, CGNL1, FRMD5, UBL7, DISP2, CHRFAM7A, ARHGAP11B, DPH6, TICRR, CCDC32, KNSTRN, BMF, SHF, DUOXA1, RCCD1, CALML4, ARRDC4, LDHAL6B, UBE2Q2, CHST14, CASC4, LACTB, TUBGCP5, DIS3L, TGM7, CATSPER2, LEO1, C15orf40, SENP8, MTFMT, SLC51B, TARSL2, 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, HMGN2P46, SLC24A5, PRTG, REC114, GOLGA6L2, SAXO2, FAM98B, PLA2G4D, LINC00928, FAM169B, FBXL22, SNORD115-1, TMEM202, GLDN, GOLGA6A, TMC3, ZNF774, PWAR4, PWARSN, RBPMS2, ANKDD1A, ARPIN, USP50, TEX9, KIF7, ZNF710, HDDC3, CCDC9B, TNFAIP8L3, C2CD4B, C15orf59, KBTBD13, UBAP1L, SKOR1, ANKRD34C, GDPGP1, OR4F6, OR4F15, SHC4, CTXN2, C15orf53, C15orf54, ST20, FAM174B, DUOXA2, MIR184, MIR211, MIR9-3, GOLGA8B, EIF2AK4, UNC13C, CKMT1A, CPLX3, SERINC4, C15orf62, GOLGA8N, C15orf56, PHGR1, SH2D7, GOLGA8J, GOLGA6C, GOLGA6D, GOLGA8M, SCARNA15, FBXO22-AS1, GOLGA8O, GOLGA8H, PWRN1, PWRN2, SNORD116-1, LOC100128979, ANKRD63, GOLGA6L3, JMJD7, PLA2G4B, PWAR6, C15orf38-AP3S2, ST20-MTHFS, MYZAP
See casesPathogenic
(Dec 2, 2014)
no assertion criteria provided
88.
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, KIAA1024, 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, SCAND2P, 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, FAM103A1, TLN2, FAM96A, MEX3B, C15orf48, MEGF11, C15orf41, SPPL2A, LINGO1, ZFYVE19, WDR73, CGNL1, FRMD5, UBL7, DISP2, CHRFAM7A, ARHGAP11B, DPH6, TICRR, CCDC32, KNSTRN, BMF, SHF, DUOXA1, RCCD1, CALML4, ARRDC4, LDHAL6B, UBE2Q2, CHST14, CASC4, LACTB, TUBGCP5, DIS3L, TGM7, CATSPER2, LEO1, C15orf40, SENP8, MTFMT, SLC51B, TARSL2, 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, HMGN2P46, SLC24A5, PRTG, REC114, GOLGA6L2, SAXO2, FAM98B, PLA2G4D, LINC00928, FAM169B, FBXL22, SNORD115-1, TMEM202, GLDN, GOLGA6A, TMC3, ZNF774, PWAR4, PWARSN, RBPMS2, ANKDD1A, ARPIN, USP50, TEX9, KIF7, ZNF710, HDDC3, CCDC9B, TNFAIP8L3, C2CD4B, C15orf59, KBTBD13, UBAP1L, SKOR1, ANKRD34C, GDPGP1, OR4F6, OR4F15, SHC4, CTXN2, C15orf53, C15orf54, ST20, FAM174B, DUOXA2, MIR184, MIR211, MIR9-3, GOLGA8B, EIF2AK4, UNC13C, CKMT1A, CPLX3, SERINC4, C15orf62, GOLGA8N, C15orf56, PHGR1, SH2D7, GOLGA8J, GOLGA6C, GOLGA6D, GOLGA8M, SCARNA15, FBXO22-AS1, GOLGA8O, GOLGA8H, PWRN1, PWRN2, SNORD116-1, LOC100128979, ANKRD63, GOLGA6L3, JMJD7, PLA2G4B, PWAR6, C15orf38-AP3S2, ST20-MTHFS, MYZAP
See casesPathogenic
(Jul 14, 2015)
no assertion criteria provided
89.
GRCh37:
Chr15:42850434-49592633
See casesPathogenicno assertion criteria provided
90.
GRCh37:
Chr15:41689327-52446981
See casesPathogenicno assertion criteria provided
91.
GRCh37:
Chr15:20733395-102511616
ACTC1, ADAM10, ACAN, ALDH1A3, ANPEP, ANXA2, APBA2, AQP9, B2M, BBS4, BCL2A1, NBEAP1, 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, KIAA1024, 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, SCAND2P, 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, FAM103A1, TLN2, FAM96A, MEX3B, C15orf48, MEGF11, C15orf41, SPPL2A, LINGO1, ZFYVE19, WDR73, CGNL1, FRMD5, UBL7, DISP2, CHRFAM7A, ARHGAP11B, DPH6, TICRR, CCDC32, KNSTRN, BMF, SHF, DUOXA1, RCCD1, CALML4, ARRDC4, LDHAL6B, UBE2Q2, CHST14, CASC4, LACTB, TUBGCP5, DIS3L, TGM7, CATSPER2, LEO1, C15orf40, SENP8, MTFMT, SLC51B, TARSL2, 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, HMGN2P46, SLC24A5, PRTG, REC114, GOLGA6L2, OR4N4, SAXO2, FAM98B, PLA2G4D, LINC00928, GOLGA6L1, FAM169B, FBXL22, SNORD115-1, TMEM202, GLDN, GOLGA6A, TMC3, ZNF774, PWAR4, PWARSN, RBPMS2, ANKDD1A, ARPIN, USP50, TEX9, KIF7, ZNF710, HDDC3, C15orf52, TNFAIP8L3, C2CD4B, C15orf59, OR4M2, KBTBD13, UBAP1L, SKOR1, ANKRD34C, GDPGP1, OR4F6, OR4F15, SHC4, CTXN2, C15orf53, C15orf54, ST20, FAM174B, DUOXA2, MIR184, MIR211, MIR9-3, GOLGA8B, EIF2AK4, UNC13C, CKMT1A, CPLX3, SERINC4, C15orf62, GOLGA8N, C15orf56, PHGR1, SH2D7, GOLGA8J, GOLGA6C, GOLGA6D, GOLGA8M, SCARNA15, FBXO22-AS1, GOLGA6L6, GOLGA8O, GOLGA8H, PWRN1, PWRN2, SNORD116-1, LOC100128979, ANKRD63, GOLGA6L3, JMJD7, PLA2G4B, POTEB2, PWAR6, C15orf38-AP3S2, ST20-MTHFS, MYZAP, POTEB
See casesPathogenicno assertion criteria provided
92.
GRCh37:
Chr15:41745084-102354798
ADAM10, ACAN, ALDH1A3, ANPEP, ANXA2, AQP9, B2M, BBS4, BCL2A1, BLM, BNC1, BNIP2, CA12, CAPN3, CHD2, CHRNA3, CHRNA5, CHRNB4, CKMT1B, CLK3, CRABP1, CSK, CSPG4, CTSH, CYP1A1, CYP1A2, CYP11A1, CYP19A1, DUT, EPB42, ETFA, FAH, FBN1, FES, FGF7, GABPB1, GALK2, GANC, GATM, PDIA3, GTF2A2, HDC, HEXA, ONECUT1, IDH2, IDH3A, IGF1R, IL16, IREB2, ISG20, ISLR, ITPKA, LIPC, LOXL1, LTK, SMAD3, SMAD6, MAN2A2, MAN2C1, MAP1A, MEF2A, MFAP1, MFGE8, MPI, MYO1E, MYO5A, MYO9A, NEDD4, NEO1, NMB, NTRK3, OAZ2, FURIN, PCSK6, PDE8A, PKM, PLIN1, PML, POLG, PPIB, MAPK6, MAP2K1, MAP2K5, PSMA4, PTPN9, RAB27A, RASGRF1, RCN2, RLBP1, RORA, RPL4, RPLP1, RPS17, SH3GL3, SLC12A1, SNRPA1, SNX1, SORD, TCF12, NR2F2, 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, SECISBP2L, PCLAF, LCMT2, SV2B, ARNT2, USP3, NR2E3, BCL2L10, HCN4, SCAMP2, SNUPN, PDCD7, TSPAN3, FEM1B, SERF2, AP3S2, DENND4A, SNAPC5, HMG20A, CORO2B, SEMA4B, CIB2, CIB1, MTHFS, ARID3B, GNB5, ARPP19, CLPX, MORF4L1, SLC27A2, ABHD2, ADAMTS7, AKAP13, ITGA11, CHSY1, CEP152, MAPKBP1, ZNF609, TBC1D2B, RTF1, MESD, ACSBG1, KIAA1024, MGA, DMXL2, SYNM, VPS39, TMED3, AP4E1, SEC11A, CCNDBP1, DAPK2, EID1, HYPK, ARIH1, SIN3A, TMEM87A, ULK3, RPAP1, GLCE, PYGO1, BLOC1S6, FBXO22, VPS33B, MRPL46, RNU6-1, RNU5A-1, NPTN, FOXB1, TUBGCP4, SLCO3A1, SCG3, TMOD3, TMOD2, EHD4, SCAPER, DUOX2, MYEF2, RPS27L, RSL24D1, RASL12, SPG21, SPTBN5, NGRN, RHCG, HACD3, CTDSPL2, RAB8B, BTBD1, TM6SF1, DUOX1, CSNK1G1, ZFAND6, SCAND2P, MINDY2, RNF111, ZNF280D, TRPM7, VPS13C, LRRC49, PAQR5, DPP8, RPP25, COMMD4, PARP16, TIPIN, CLN6, ZSCAN2, ZWILCH, DET1, UACA, HAUS2, LINS1, FANCI, IMP3, LARP6, MNS1, DNAJA4, MCTP2, SELENOS, GOLGA6B, MESP1, UNC45A, MYO5C, FAM214A, C15orf39, THAP10, RGMA, WDR93, PARP6, DTWD1, FAM219B, ADAMTSL3, CEMIP, STARD9, ALPK3, ISLR2, IGDCC4, SQOR, ABHD17C, TLNRD1, PPCDC, CELF6, STRA6, ZNF106, KLHL25, CPEB1, AEN, CRTC3, IQCH, ISL2, RFX7, TTC23, MRPS11, SPATA5L1, NOX5, EFL1, NEIL1, ICE2, LRRK1, AAGAB, LMAN1L, SLTM, PEAK1, SNX22, THSD4, ATP8B4, WDR76, TMEM62, SEMA6D, PIF1, CCDC33, EDC3, SPG11, TM2D3, ELL3, PLEKHO2, WDR61, CD276, STARD5, POLR2M, INTS14, ADPGK, APH1B, FAM103A1, TLN2, FAM96A, MEX3B, C15orf48, MEGF11, SPPL2A, LINGO1, WDR73, CGNL1, FRMD5, UBL7, TICRR, SHF, DUOXA1, RCCD1, CALML4, ARRDC4, LDHAL6B, UBE2Q2, CASC4, LACTB, DIS3L, TGM7, CATSPER2, LEO1, C15orf40, SENP8, MTFMT, SLC51B, TARSL2, LRRC28, TMEM266, AGBL1, HYKK, WHAMM, FSD2, PLA2G4E, ASB7, TRIM69, TERB2, C2CD4A, LYSMD4, FAM81A, C15orf65, PGPEP1L, C15orf61, C15orf32, HAPLN3, MESP2, SPATA8, NRG4, ZSCAN29, TTBK2, CDAN1, STRC, CFAP161, TBC1D21, DNAAF4, ODF3L1, ADAL, ADAMTS17, SCAMP5, FAM227B, CT62, GRAMD2A, LCTL, UBR1, PATL2, CERS3, SPESP1, PLA2G4F, LRRC57, LYSMD2, WDR72, SNX33, HMGN2P46, SLC24A5, PRTG, REC114, SAXO2, PLA2G4D, LINC00928, FAM169B, FBXL22, TMEM202, GLDN, GOLGA6A, TMC3, ZNF774, RBPMS2, ANKDD1A, ARPIN, USP50, TEX9, KIF7, ZNF710, HDDC3, TNFAIP8L3, C2CD4B, C15orf59, KBTBD13, UBAP1L, SKOR1, ANKRD34C, GDPGP1, OR4F6, SHC4, CTXN2, ST20, FAM174B, DUOXA2, MIR184, MIR9-3, UNC13C, CKMT1A, CPLX3, SERINC4, SH2D7, GOLGA6C, GOLGA6D, SCARNA15, FBXO22-AS1, LOC100128979, GOLGA6L3, JMJD7, PLA2G4B, C15orf38-AP3S2, ST20-MTHFS, MYZAP
See casesPathogenicno assertion criteria provided
93.
GRCh37:
Chr15:42858959-44139304
GRCh38:
Chr15:42566761-43847106
See casesLikely pathogenic
(Nov 4, 2011)
no assertion criteria provided
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