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Items: 97

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
BBS4Bardet-Biedl syndromePathogenicno assertion criteria provided
2.
GRCh37:
Chr15:72978525
GRCh38:
Chr15:72686184
BBS4Bardet-Biedl syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr15:72978531
GRCh38:
Chr15:72686190
BBS4Bardet-Biedl syndrome, not specifiedGMAF:0.02080(A)
GO-ESP:0.04367(A)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr15:72978552
GRCh38:
Chr15:72686211
BBS4Bardet-Biedl syndrome, not specifiedGO-ESP:0.05748(T)
GMAF:0.03750(T)
GO-ESP:0.08394(T)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr15:72978552
GRCh38:
Chr15:72686211
BBS4Bardet-Biedl syndromeGMAF:0.03750(T)Benign
(Oct 13, 2009)
no assertion criteria provided
6.
GRCh37:
Chr15:72978555
GRCh38:
Chr15:72686214
BBS4Bardet-Biedl syndromeGMAF:0.00160(A)
GO-ESP:0.00082(A)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr15:72978563
GRCh38:
Chr15:72686222
BBS4Bardet-Biedl syndromeBenign
(Oct 13, 2009)
no assertion criteria provided
8.
GRCh37:
Chr15:72978576
GRCh38:
Chr15:72686235
BBS4Bardet-Biedl syndromeBenign
(Oct 13, 2009)
no assertion criteria provided
9.
GRCh37:
Chr15:72978580
GRCh38:
Chr15:72686239
BBS4not specifiedGO-ESP:0.00004(A)Likely benigncriteria provided, single submitter
10.
GRCh37:
Chr15:72978585
GRCh38:
Chr15:72686244
BBS4Bardet-Biedl syndromeBenign
(Oct 13, 2009)
no assertion criteria provided
11.
GRCh37:
Chr15:72978586
GRCh38:
Chr15:72686245
BBS4Bardet-Biedl syndromeBenign
(Oct 13, 2009)
no assertion criteria provided
12.
GRCh37:
Chr15:72978588
GRCh38:
Chr15:72686247
BBS4Bardet-Biedl syndromeBenign
(Oct 13, 2009)
no assertion criteria provided
13.
GRCh37:
Chr15:72978600
GRCh38:
Chr15:72686259
BBS4Bardet-Biedl syndrome, not specifiedGMAF:0.00440(T)
GO-ESP:0.00125(T)
Uncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr15:72987521
GRCh38:
Chr15:72695180
BBS4Bardet-Biedl syndromeBenign
(Oct 13, 2009)
no assertion criteria provided
15.
GRCh37:
Chr15:72987530
GRCh38:
Chr15:72695189
BBS4Bardet-Biedl syndromeGMAF:0.00040(T)
GO-ESP:0.00124(T)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr15:72987535
GRCh38:
Chr15:72695194
BBS4Bardet-Biedl syndromeGO-ESP:0.00001(G)Benign
(Oct 13, 2009)
no assertion criteria provided
17.
GRCh37:
Chr15:72987557
GRCh38:
Chr15:72695216
BBS4not specifiedGO-ESP:0.00008(T)Uncertain significance
(Dec 27, 2013)
criteria provided, single submitter
18.
GRCh37:
Chr15:72987588
GRCh38:
Chr15:72695247
BBS4not specifiedGMAF:0.05810(G)Benign
(Dec 27, 2013)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr15:73001821
GRCh38:
Chr15:72709480
BBS4Bardet-Biedl syndrome, Bardet-Biedl syndrome 4Pathogenic
(Oct 13, 2009)
no assertion criteria provided
20.
GRCh37:
Chr15:73002035
GRCh38:
Chr15:72709694
BBS4Bardet-Biedl syndrome, not specifiedGMAF:0.05790(G)Benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr15:73002055
GRCh38:
Chr15:72709714
BBS4Bardet-Biedl syndromeGO-ESP:0.00002(G)Benign
(Oct 13, 2009)
no assertion criteria provided
22.
GRCh37:
Chr15:73002101
GRCh38:
Chr15:72709760
BBS4not specified, not providedGMAF:0.00320(G)
GO-ESP:0.00686(G)
Conflicting interpretations of pathogenicity
(Jul 8, 2016)
criteria provided, conflicting interpretations
23.
GRCh37:
Chr15:73004583
GRCh38:
Chr15:72712242
BBS4Bardet-Biedl syndrome, Bardet-Biedl syndrome 4GO-ESP:0.00001(G)Pathogenic
(Oct 13, 2009)
no assertion criteria provided
24.
GRCh37:
Chr15:73004600
GRCh38:
Chr15:72712259
BBS4Bardet-Biedl syndromePathogenicno assertion criteria provided
25.
GRCh37:
Chr15:73004636
GRCh38:
Chr15:72712295
BBS4not specifiedGMAF:0.00180(G)
GO-ESP:0.00048(G)
Uncertain significance
(Jun 3, 2015)
criteria provided, single submitter
26.
GRCh37:
Chr15:73004649
GRCh38:
Chr15:72712308
BBS4Bardet-Biedl syndromePathogenic
(Aug 10, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr15:73007686
GRCh38:
Chr15:72715345
BBS4Bardet-Biedl syndromeGO-ESP:0.00001(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr15:73009208
GRCh38:
Chr15:72716867
BBS4not specifiedGMAF:0.02180(T)
GO-ESP:0.04569(T)
Benigncriteria provided, single submitter
29.
GRCh37:
Chr15:73015133
GRCh38:
Chr15:72722792
BBS4Bardet-Biedl syndrome 4Pathogenic
(Oct 5, 2015)
no assertion criteria provided
30.
GRCh37:
Chr15:73015133
GRCh38:
Chr15:72722792
BBS4Bardet-Biedl syndromePathogenic
(Oct 13, 2009)
no assertion criteria provided
31.
GRCh37:
Chr15:73016922
GRCh38:
Chr15:72724581
BBS4Bardet-Biedl syndromePathogenic
(Aug 10, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr15:73016997
GRCh38:
Chr15:72724656
BBS4Bardet-Biedl syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr15:73020320
GRCh38:
Chr15:72727979
BBS4not specifiedGO-ESP:0.00001(T)Uncertain significance
(Jan 28, 2015)
criteria provided, single submitter
34.
GRCh37:
Chr15:73020331
GRCh38:
Chr15:72727990
BBS4Bardet-Biedl syndromePathogenic
(Jul 9, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr15:73020349-73020355
GRCh38:
Chr15:72728008-72728014
BBS4not specifiedLikely benigncriteria provided, single submitter
36.
GRCh37:
Chr15:73023629
GRCh38:
Chr15:72731288
BBS4not specifiedGMAF:0.00400(G)
GO-ESP:0.00967(G)
Likely benigncriteria provided, single submitter
37.
GRCh37:
Chr15:73023645
GRCh38:
Chr15:72731304
BBS4Retinal dystrophyGO-ESP:0.00001(A)Uncertain significanceno assertion criteria provided
38.
GRCh37:
Chr15:73023682
GRCh38:
Chr15:72731341
BBS4not specifiedGMAF:0.00700(A)
GO-ESP:0.00146(A)
Benigncriteria provided, single submitter
39.
GRCh37:
Chr15:73023686
GRCh38:
Chr15:72731345
BBS4Bardet-Biedl syndromeGMAF:0.00020(G)
GO-ESP:0.00007(G)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr15:73023764
GRCh38:
Chr15:72731423
BBS4Bardet-Biedl syndromeUncertain significance
(Nov 24, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr15:73023808
GRCh38:
Chr15:72731467
BBS4Bardet-Biedl syndromeGMAF:0.00020(T)
GO-ESP:0.00016(T)
Likely benign
(Apr 6, 2015)
criteria provided, single submitter
42.
GRCh37:
Chr15:73023874
GRCh38:
Chr15:72731533
BBS4not specifiedGMAF:0.00700(C)
GO-ESP:0.00146(C)
Likely benigncriteria provided, single submitter
43.
GRCh37:
Chr15:73023914
GRCh38:
Chr15:72731573
BBS4Bardet-Biedl syndrome 4Pathogenicno assertion criteria provided
44.
GRCh37:
Chr15:73023915
GRCh38:
Chr15:72731574
BBS4Bardet-Biedl syndrome 4Pathogenic
(Jun 1, 2001)
no assertion criteria provided
45.
GRCh37:
Chr15:73023937
GRCh38:
Chr15:72731596
BBS4not specifiedGMAF:0.03950(T)Benign
(Mar 3, 2014)
criteria provided, single submitter
46.
GRCh37:
Chr15:73024017
GRCh38:
Chr15:72731676
BBS4not specifiedGMAF:0.00020(T)
GO-ESP:0.00003(T)
Uncertain significance
(Mar 3, 2014)
criteria provided, single submitter
47.
GRCh37:
Chr15:73027466
GRCh38:
Chr15:72735125
BBS4not specifiedGMAF:0.00020(G)
GO-ESP:0.00032(G)
Uncertain significance
(Jan 31, 2014)
criteria provided, single submitter
48.
GRCh37:
Chr15:73027478
GRCh38:
Chr15:72735137
BBS4Bardet-Biedl syndrome, not specified, not provided
GO-ESP:0.53272(C)
GMAF:0.42890(C)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr15:73027508
GRCh38:
Chr15:72735167
BBS4Bardet-Biedl syndrome 4Pathogenic
(Jul 1, 2002)
no assertion criteria provided
50.
GRCh37:
Chr15:73027525
GRCh38:
Chr15:72735184
BBS4not providedPathogenic
(Jan 25, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr15:73027526
GRCh38:
Chr15:72735185
BBS4not specifiedLikely benigncriteria provided, single submitter
52.
GRCh37:
Chr15:73027543
GRCh38:
Chr15:72735202
BBS4not specifiedGMAF:0.00800(C)
GO-ESP:0.00843(C)
Benigncriteria provided, single submitter
53.
GRCh37:
Chr15:73028159
GRCh38:
Chr15:72735818
BBS4Bardet-Biedl syndrome, not providedGO-ESP:0.00001(A)Uncertain significance
(Aug 31, 2016)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr15:73028199
GRCh38:
Chr15:72735858
BBS4Bardet-Biedl syndromeLikely benign
(Jun 18, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr15:73028238
GRCh38:
Chr15:72735897
BBS4Bardet-Biedl syndromeLikely benign
(Aug 22, 2016)
criteria provided, single submitter
56.
GRCh37:
Chr15:73028274
GRCh38:
Chr15:72735933
BBS4Bardet-Biedl syndromeGMAF:0.00180(G)
GO-ESP:0.00021(G)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr15:73028285
GRCh38:
Chr15:72735944
BBS4Bardet-Biedl syndromePathogenicno assertion criteria provided
58.
GRCh37:
Chr15:73028295
GRCh38:
Chr15:72735954
BBS4not specifiedGMAF:0.00220(T)
GO-ESP:0.00171(T)
Benign/Likely benign
(Feb 4, 2016)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr15:73029068
GRCh38:
Chr15:72736727
BBS4not specifiedGMAF:0.01660(C)
GO-ESP:0.03094(C)
Benigncriteria provided, single submitter
60.
GRCh37:
Chr15:73029163
GRCh38:
Chr15:72736822
BBS4Bardet-Biedl syndromeGO-ESP:0.00001(G)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr15:73029170
GRCh38:
Chr15:72736829
BBS4not providedUncertain significanceno assertion criteria provided
62.
GRCh37:
Chr15:73029230
GRCh38:
Chr15:72736889
BBS4Bardet-Biedl syndromeGO-ESP:0.00001(G)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
63.
GRCh37:
Chr15:73029268
GRCh38:
Chr15:72736927
BBS4Bardet-Biedl syndrome, not specified, not provided
GMAF:0.00140(G)
GO-ESP:0.00065(G)
Likely benign
(Mar 16, 2015)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr15:73029294
GRCh38:
Chr15:72736953
BBS4Bardet-Biedl syndromeGO-ESP:0.00010(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
65.
GRCh37:
Chr15:73029314
GRCh38:
Chr15:72736973
BBS4not specifiedUncertain significance
(Nov 13, 2015)
criteria provided, single submitter
66.
GRCh37:
Chr15:73029774
GRCh38:
Chr15:72737433
BBS4Bardet-Biedl syndrome, not specifiedGO-ESP:0.09888(C)
GMAF:0.05690(C)
GO-ESP:0.09510(C)
Benign/Likely benign
(Oct 13, 2009)
criteria provided, single submitter
67.
GRCh37:
Chr15:73029813
GRCh38:
Chr15:72737472
BBS4Bardet-Biedl syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
68.
GRCh37:
Chr15:73029841
GRCh38:
Chr15:72737500
BBS4Bardet-Biedl syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr15:73029916-73029917
GRCh38:
Chr15:72737575-72737576
BBS4not specifiedGMAF:0.00080(-)Uncertain significance
(Sep 10, 2013)
criteria provided, single submitter
70.
GRCh37:
Chr15:73029929
GRCh38:
Chr15:72737588
BBS4Bardet-Biedl syndrome, not specifiedGO-ESP:0.01455(C)
GMAF:0.01340(C)
GO-ESP:0.00558(C)
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr15:73029964
GRCh38:
Chr15:72737623
BBS4Bardet-Biedl syndromeGMAF:0.00120(A)
GO-ESP:0.00031(A)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
72.
GRCh37:
Chr15:73029971
GRCh38:
Chr15:72737630
BBS4Bardet-Biedl syndromeGMAF:0.00120(T)
GO-ESP:0.00499(T)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr15:73030077
GRCh38:
Chr15:72737736
BBS4Bardet-Biedl syndromeGMAF:0.00080(A)
GO-ESP:0.00073(A)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
74.
GRCh37:
Chr15:73030085
GRCh38:
Chr15:72737744
BBS4Bardet-Biedl syndromeGMAF:0.00020(G)
GO-ESP:0.00098(G)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
75.
GRCh37:
Chr15:73030536
GRCh38:
Chr15:72738195
BBS4Bardet-Biedl syndromeGMAF:0.11120(T)
GO-ESP:0.09887(T)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
76.
GRCh37:
Chr15:73030539
GRCh38:
Chr15:72738198
BBS4Bardet-Biedl syndromeGMAF:0.00200(T)
GO-ESP:0.00208(T)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
77.
GRCh37:
Chr15:73030571
GRCh38:
Chr15:72738230
BBS4Bardet-Biedl syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
78.
GRCh37:
Chr15:73030783-73030784
GRCh38:
Chr15:72738442-72738443
BBS4Bardet-Biedl syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
79.
GRCh37:
Chr15:73030811
GRCh38:
Chr15:72738470
BBS4Bardet-Biedl syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
80.
GRCh37:
Chr15:73030813
GRCh38:
Chr15:72738472
BBS4Bardet-Biedl syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
81.
GRCh37:
Chr15:73029165
BBS4not providedLikely pathogeniccriteria provided, single submitter
82.
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, MESDC2, 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, MESDC1, 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, C15orf57, 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, GRAMD2, 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
83.
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, MESDC2, 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, MESDC1, 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, GRAMD2, 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
84.
GRCh37:
Chr15:59297293-102480888
ACAN, ALDH1A3, ANPEP, ANXA2, BBS4, BCL2A1, BLM, BNC1, BNIP2, CA12, CHD2, CHRNA3, CHRNA5, CHRNB4, CLK3, CRABP1, CSK, CSPG4, CTSH, CYP1A1, CYP1A2, CYP11A1, ETFA, FAH, FES, GTF2A2, HEXA, IDH2, IDH3A, IGF1R, IL16, IREB2, ISG20, ISLR, LOXL1, SMAD3, SMAD6, MAN2A2, MAN2C1, MEF2A, MFGE8, MPI, MYO1E, MYO9A, NEO1, NMB, NTRK3, OAZ2, FURIN, PCSK6, PDE8A, PKM, PLIN1, PML, POLG, PPIB, MAP2K1, MAP2K5, PSMA4, PTPN9, RASGRF1, RCN2, RLBP1, RORA, RPL4, RPLP1, RPS17, SH3GL3, SNRPA1, SNX1, NR2F2, TLE3, TPM1, AP3B2, ANP32A, ST8SIA2, SEMA7A, CILP, PIAS1, RAB11A, PEX11A, IQGAP1, HERC1, PSTPIP1, PRC1, CCNB2, SLC28A1, SLC24A1, GCNT3, TRIP4, COX5A, STOML1, HOMER2, KIF23, IGDCC3, ZNF592, PCLAF, SV2B, ARNT2, USP3, NR2E3, HCN4, SCAMP2, SNUPN, PDCD7, TSPAN3, FEM1B, AP3S2, DENND4A, SNAPC5, HMG20A, CORO2B, SEMA4B, CIB2, CIB1, MTHFS, ARID3B, CLPX, MORF4L1, ABHD2, ADAMTS7, AKAP13, ITGA11, CHSY1, ZNF609, TBC1D2B, MESDC2, ACSBG1, KIAA1024, SYNM, TMED3, SEC11A, DAPK2, ARIH1, SIN3A, ULK3, GLCE, FBXO22, VPS33B, MRPL46, OR4F4, RNU6-1, RNU5A-1, NPTN, FOXB1, SLCO3A1, SCAPER, RPS27L, RASL12, SPG21, NGRN, RHCG, HACD3, RAB8B, BTBD1, TM6SF1, CSNK1G1, ZFAND6, SCAND2P, RNF111, VPS13C, LRRC49, PAQR5, DPP8, RPP25, COMMD4, PARP16, TIPIN, CLN6, ZSCAN2, ZWILCH, DET1, UACA, LINS1, FANCI, IMP3, LARP6, DNAJA4, MCTP2, SELENOS, GOLGA6B, MESP1, UNC45A, C15orf39, THAP10, RGMA, WDR93, PARP6, FAM219B, ADAMTSL3, CEMIP, ALPK3, ISLR2, IGDCC4, ABHD17C, MESDC1, PPCDC, CELF6, STRA6, KLHL25, CPEB1, AEN, CRTC3, IQCH, ISL2, TTC23, MRPS11, NOX5, EFL1, NEIL1, ICE2, LRRK1, AAGAB, LMAN1L, PEAK1, SNX22, THSD4, PIF1, CCDC33, EDC3, TM2D3, PLEKHO2, WDR61, CD276, STARD5, INTS14, ADPGK, APH1B, FAM103A1, TLN2, FAM96A, MEX3B, MEGF11, LINGO1, WDR73, UBL7, TICRR, RCCD1, CALML4, ARRDC4, LDHAL6B, UBE2Q2, LACTB, DIS3L, C15orf40, SENP8, MTFMT, SLC51B, TARSL2, LRRC28, TMEM266, AGBL1, HYKK, WHAMM, FSD2, ASB7, C2CD4A, LYSMD4, FAM81A, PGPEP1L, C15orf61, C15orf32, HAPLN3, MESP2, SPATA8, NRG4, CFAP161, TBC1D21, ODF3L1, ADAMTS17, SCAMP5, CT62, GRAMD2, LCTL, CERS3, SPESP1, SNX33, REC114, SAXO2, LINC00928, FAM169B, FBXL22, TMEM202, GOLGA6A, TMC3, ZNF774, RBPMS2, ANKDD1A, ARPIN, KIF7, ZNF710, HDDC3, C2CD4B, C15orf59, KBTBD13, UBAP1L, SKOR1, ANKRD34C, GDPGP1, OR4F6, OR4F15, ST20, FAM174B, MIR184, MIR9-3, CPLX3, SH2D7, GOLGA6C, GOLGA6D, SCARNA15, FBXO22-AS1, LOC100128979, GOLGA6L3, C15orf38-AP3S2, ST20-MTHFS
not providedLikely pathogenic
(Jul 31, 2016)
criteria provided, single submitter
85.
GRCh37:
Chr15:72998989-76069787
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
86.
GRCh37:
Chr15:72958539-75569605
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
87.
GRCh37:
Chr15:64637227-102509910
ACAN, ALDH1A3, ANPEP, BBS4, BCL2A1, BLM, BNC1, CHD2, CHRNA3, CHRNA5, CHRNB4, CLK3, CRABP1, CSK, CSPG4, CTSH, CYP1A1, CYP1A2, CYP11A1, ETFA, FAH, FES, HEXA, IDH2, IDH3A, IGF1R, IL16, IREB2, ISG20, ISLR, LOXL1, SMAD3, SMAD6, MAN2A2, MAN2C1, MEF2A, MFGE8, MPI, MYO9A, NEO1, NMB, NTRK3, OAZ2, FURIN, PCSK6, PDE8A, PKM, PLIN1, PML, POLG, MAP2K1, MAP2K5, PSMA4, PTPN9, RASGRF1, RCN2, RLBP1, RPL4, RPLP1, RPS17, SH3GL3, SNRPA1, NR2F2, TLE3, AP3B2, ANP32A, ST8SIA2, SEMA7A, CILP, PIAS1, RAB11A, PEX11A, IQGAP1, PSTPIP1, PRC1, SLC28A1, SLC24A1, TRIP4, COX5A, STOML1, HOMER2, KIF23, IGDCC3, ZNF592, PCLAF, SV2B, ARNT2, NR2E3, HCN4, SCAMP2, SNUPN, PDCD7, TSPAN3, FEM1B, AP3S2, DENND4A, SNAPC5, HMG20A, CORO2B, SEMA4B, CIB2, CIB1, MTHFS, ARID3B, CLPX, MORF4L1, ABHD2, ADAMTS7, AKAP13, ITGA11, CHSY1, ZNF609, TBC1D2B, MESDC2, ACSBG1, KIAA1024, SYNM, TMED3, SEC11A, ARIH1, SIN3A, ULK3, GLCE, FBXO22, VPS33B, MRPL46, OR4F4, RNU6-1, RNU5A-1, NPTN, SLCO3A1, SCAPER, RASL12, SPG21, NGRN, RHCG, HACD3, BTBD1, TM6SF1, CSNK1G1, ZFAND6, SCAND2P, LRRC49, PAQR5, DPP8, RPP25, COMMD4, PARP16, TIPIN, CLN6, ZSCAN2, ZWILCH, DET1, UACA, LINS1, FANCI, IMP3, LARP6, DNAJA4, MCTP2, SELENOS, GOLGA6B, MESP1, UNC45A, C15orf39, THAP10, RGMA, WDR93, PARP6, FAM219B, ADAMTSL3, CEMIP, ALPK3, ISLR2, IGDCC4, ABHD17C, MESDC1, PPCDC, CELF6, STRA6, KLHL25, CPEB1, AEN, CRTC3, IQCH, ISL2, TTC23, MRPS11, NOX5, EFL1, NEIL1, LRRK1, AAGAB, LMAN1L, PEAK1, THSD4, PIF1, CCDC33, EDC3, TM2D3, PLEKHO2, WDR61, CD276, STARD5, INTS14, ADPGK, FAM103A1, MEX3B, MEGF11, LINGO1, WDR73, UBL7, TICRR, RCCD1, CALML4, ARRDC4, UBE2Q2, DIS3L, C15orf40, SENP8, MTFMT, SLC51B, TARSL2, LRRC28, TMEM266, AGBL1, HYKK, WHAMM, FSD2, ASB7, LYSMD4, PGPEP1L, C15orf61, C15orf32, HAPLN3, MESP2, SPATA8, NRG4, CFAP161, TBC1D21, ODF3L1, ADAMTS17, SCAMP5, CT62, GRAMD2, LCTL, CERS3, SPESP1, SNX33, REC114, SAXO2, LINC00928, FAM169B, TMEM202, GOLGA6A, TMC3, ZNF774, RBPMS2, ANKDD1A, ARPIN, KIF7, ZNF710, HDDC3, C15orf59, KBTBD13, UBAP1L, SKOR1, ANKRD34C, GDPGP1, OR4F6, OR4F15, ST20, FAM174B, MIR184, MIR9-3, CPLX3, SH2D7, GOLGA6C, GOLGA6D, SCARNA15, FBXO22-AS1, GOLGA6L3, C15orf38-AP3S2, ST20-MTHFS
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
88.
GRCh37:
Chr15:72447290-102461201
GRCh38:
Chr15:72154949-101920998
ACAN, ALDH1A3, ANPEP, BBS4, BCL2A1, BLM, BNC1, CHD2, CHRNA3, CHRNA5, CHRNB4, CLK3, CRABP1, CSK, CSPG4, CTSH, CYP1A1, CYP1A2, CYP11A1, ETFA, FAH, FES, HEXA, IDH2, IDH3A, IGF1R, IL16, IREB2, ISG20, ISLR, LOXL1, MAN2A2, MAN2C1, MEF2A, MFGE8, MPI, NEO1, NMB, NTRK3, FURIN, PCSK6, PDE8A, PKM, PLIN1, PML, POLG, PSMA4, PTPN9, RASGRF1, RCN2, RLBP1, RPS17, SH3GL3, SNRPA1, NR2F2, AP3B2, ST8SIA2, SEMA7A, PEX11A, IQGAP1, PSTPIP1, PRC1, SLC28A1, COX5A, STOML1, HOMER2, ZNF592, SV2B, ARNT2, HCN4, SCAMP2, SNUPN, TSPAN3, AP3S2, HMG20A, SEMA4B, CIB2, CIB1, MTHFS, ARID3B, MORF4L1, ABHD2, ADAMTS7, AKAP13, CHSY1, TBC1D2B, MESDC2, ACSBG1, KIAA1024, SYNM, TMED3, SEC11A, ARIH1, SIN3A, ULK3, FBXO22, VPS33B, MRPL46, NPTN, SLCO3A1, SCAPER, HDGFRP3, NGRN, RHCG, BTBD1, TM6SF1, ZFAND6, SCAND2P, RPP25, COMMD4, ZSCAN2, DET1, LINS1, FANCI, IMP3, DNAJA4, MCTP2, SELENOS, GOLGA6B, MESP1, UNC45A, C15orf39, RGMA, WDR93, PARP6, FAM219B, ADAMTSL3, CEMIP, ALPK3, ISLR2, ABHD17C, MESDC1, PPCDC, CELF6, STRA6, KLHL25, CPEB1, AEN, CRTC3, ISL2, TTC23, MRPS11, EFL1, NEIL1, LRRK1, LMAN1L, PEAK1, HEXA-AS1, CCDC33, EDC3, TM2D3, WDR61, CD276, STARD5, LINC00597, ADPGK, FAM103A1, MEX3B, LINGO1, WDR73, UBL7, TICRR, RCCD1, LOC91450, ARRDC4, LINC00923, UBE2Q2, C15orf40, TARSL2, LRRC28, TMEM266, AGBL1, HYKK, WHAMM, FSD2, ASB7, LYSMD4, PGPEP1L, LINC00924, C15orf32, HAPLN3, MESP2, SPATA8, NRG4, LINC00052, CFAP161, TBC1D21, ODF3L1, ADAMTS17, SCAMP5, GRAMD2, CERS3, LINGO1-AS1, MIR9-3HG, SNX33, REC114, LINC01579, ST20-AS1, LINC00927, CPEB1-AS1, SAXO2, LOC283731, NTRK3-AS1, LINC00928, FAM169B, TMEM202, GOLGA6A, TMC3, ZNF774, ARPIN, KIF7, ZNF710, HDDC3, C15orf59, SPATA41, ANKRD34C, GDPGP1, OR4F6, OR4F15, ST20, FAM174B, LINC01197, MIR184, MIR7-2, MIR9-3, UBL7-AS1, GOLGA6L9, CPLX3, GOLGA6L4, NR2F2-AS1, SH2D7, GOLGA6L10, GOLGA6C, GOLGA6D, SCARNA15, FBXO22-AS1, MIR549A, MIR630, MIR631, AGBL1-AS1, ANKRD34C-AS1, LOC100128108, GOLGA6L3, LINC00930, TRK-CTT1-2, TRC-GCA5-1, TRR-TCG1-1, ADPGK-AS1, LOXL1-AS1, MIR1276, MIR1179, MIR1469, PIRC76, MIR3174, MIR3175, MIR4313, MIR3713, SNHG21, UBE2Q2L, LINC00933, PRC1-AS1, LINC01578, LOC100507472, C15orf38-AP3S2, ST20-MTHFS, MIR4514, MIR4513, MIR3529, MIR4515, MIR4714, SPATA8-AS1, MIR5009, MIR5572, MIR5094, MIR548AP, LINC01314, NPTN-IT1, CRTC3-AS1, LOC101926911, CRAT37, LINC01581, LINC01580, LINC02207, LINC02254, LOC101927310, LINC01582, LINC02348, LOC101927751, C15orf59-AS1, LOC101929439, LOC101929457, LINGO1-AS2, LOC101929586, TMC3-AS1, LOC101929679, LINC01583, LINC01584, LINC01586, LINC01585, MIR6881, MIR6882, MIR7706, MIR6766, CERS3-AS1, LOC102723335, LINC02259, LOC102724034, LOC102724452, LOC103171574, IRAIN, LUNAR1, LOC104613533, TMEM202-AS1, LINC02255, LOC105370954, LINC02251, LINC02351, PCSK6-AS1, LOC105376731
See casesPathogenic
(Sep 18, 2012)
no assertion criteria provided
89.
GRCh37:
Chr15:60120659-102461201
GRCh38:
Chr15:59828460-101920998
ACAN, ALDH1A3, ANPEP, ANXA2, BBS4, BCL2A1, BLM, BNC1, CA12, CHD2, CHRNA3, CHRNA5, CHRNB4, CLK3, CRABP1, CSK, CSPG4, CTSH, CYP1A1, CYP1A2, CYP11A1, ETFA, FAH, FES, HEXA, IDH2, IDH3A, IGF1R, IL16, IREB2, ISG20, ISLR, LOXL1, SMAD3, SMAD6, MAN2A2, MAN2C1, MEF2A, MFGE8, MPI, MYO9A, NEO1, NMB, NTRK3, OAZ2, FURIN, PCSK6, PDE8A, PKM, PLIN1, PML, POLG, PPIB, MAP2K1, MAP2K5, PSMA4, PTPN9, RASGRF1, RCN2, RLBP1, RORA, RPL4, RPLP1, RPS17, SH3GL3, SNRPA1, SNX1, NR2F2, TLE3, TPM1, AP3B2, ANP32A, ST8SIA2, SEMA7A, CILP, PIAS1, RAB11A, PEX11A, IQGAP1, HERC1, PSTPIP1, PRC1, SLC28A1, SLC24A1, TRIP4, COX5A, STOML1, HOMER2, KIF23, IGDCC3, ZNF592, PCLAF, SV2B, ARNT2, USP3, NR2E3, HCN4, SCAMP2, SNUPN, PDCD7, TSPAN3, FEM1B, AP3S2, DENND4A, SNAPC5, HMG20A, CORO2B, SEMA4B, CIB2, CIB1, MTHFS, ARID3B, CLPX, MORF4L1, ABHD2, ADAMTS7, AKAP13, ITGA11, CHSY1, ZNF609, TBC1D2B, MESDC2, ACSBG1, KIAA1024, SYNM, TMED3, SEC11A, DAPK2, ARIH1, SIN3A, ULK3, GLCE, FBXO22, VPS33B, MRPL46, RNU6-1, RNU5A-1, RNU5B-1, NPTN, FOXB1, SLCO3A1, SCAPER, HDGFRP3, RPS27L, RASL12, SPG21, NGRN, RHCG, HACD3, RAB8B, BTBD1, TM6SF1, CSNK1G1, ZFAND6, SCAND2P, VPS13C, LRRC49, PAQR5, DPP8, RPP25, COMMD4, PARP16, TIPIN, CLN6, ZSCAN2, ZWILCH, DET1, UACA, LINS1, FANCI, IMP3, LARP6, DNAJA4, MCTP2, SELENOS, GOLGA6B, MESP1, UNC45A, C15orf39, THAP10, RGMA, WDR93, PARP6, FAM219B, ADAMTSL3, CEMIP, ALPK3, ISLR2, IGDCC4, ABHD17C, MESDC1, PPCDC, CELF6, STRA6, KLHL25, CPEB1, AEN, CRTC3, IQCH, ISL2, TTC23, MRPS11, NOX5, EFL1, NEIL1, ICE2, LRRK1, AAGAB, LMAN1L, PEAK1, SNX22, THSD4, ANP32A-IT1, HEXA-AS1, PIF1, CCDC33, EDC3, TM2D3, PLEKHO2, WDR61, CD276, STARD5, INTS14, LINC00597, ADPGK, APH1B, FAM103A1, TLN2, FAM96A, MEX3B, MEGF11, LINGO1, WDR73, UBL7, TICRR, RCCD1, LOC91450, CALML4, ARRDC4, LINC00923, UBE2Q2, LACTB, DIS3L, C15orf40, SENP8, MTFMT, SLC51B, TARSL2, LRRC28, TMEM266, AGBL1, HYKK, WHAMM, FSD2, ASB7, LOC145694, C2CD4A, LYSMD4, PGPEP1L, LINC00924, DRAIC, C15orf61, C15orf32, HAPLN3, MESP2, SPATA8, NRG4, LINC00052, CFAP161, TBC1D21, ODF3L1, ADAMTS17, SCAMP5, CT62, GRAMD2, MGC15885, LCTL, CERS3, SPESP1, LINGO1-AS1, MIR9-3HG, GOLGA2P11, SNX33, EWSAT1, REC114, LINC01579, ST20-AS1, LINC00927, CPEB1-AS1, SAXO2, LOC283731, NTRK3-AS1, LINC00928, FAM169B, FBXL22, TMEM202, GOLGA6A, TMC3, ZNF774, RBPMS2, ANKDD1A, ARPIN, KIF7, ZNF710, HDDC3, C2CD4B, C15orf59, SPATA41, KBTBD13, UBAP1L, SKOR1, ANKRD34C, GDPGP1, OR4F6, OR4F15, ST20, FAM174B, LINC01197, MIR184, MIR190A, MIR7-2, MIR9-3, LINC00593, UBL7-AS1, GOLGA6L9, MIR422A, CPLX3, SNORD16, SNORD18A, SNORD18B, SNORD18C, GOLGA6L4, NR2F2-AS1, SH2D7, GOLGA6L10, GOLGA6C, GOLGA6D, SCARNA15, SCARNA14, FBXO22-AS1, MIR549A, MIR629, MIR630, MIR631, AGBL1-AS1, ANKRD34C-AS1, LOC100128108, LOC100128979, USP3-AS1, GOLGA6L3, LINC00930, TRK-CTT1-2, TRC-GCA5-1, TRR-TCG1-1, TRQ-CTG1-4, ADPGK-AS1, LOXL1-AS1, MIR1276, MIR1272, MIR1179, MIR1469, PIRC76, MIR3174, MIR4311, MIR4312, MIR3175, MIR4313, MIR3713, SNHG21, UBE2Q2L, LINC02349, IQCH-AS1, LINC00933, PRC1-AS1, LINC01578, LOC100507472, C15orf38-AP3S2, ST20-MTHFS, MIR4512, MIR4514, MIR4513, MIR3529, MIR4511, MIR4515, MIR4714, SPATA8-AS1, MIR5009, MIR5572, MIR5094, MIR548AP, RNU6-19P, LINC01314, RORA-AS2, NPTN-IT1, CRTC3-AS1, LOC101926911, CRAT37, LINC01581, LINC01580, LINC02207, LINC02254, LOC101927310, LINC01582, LINC02348, LOC101927751, RORA-AS1, LOC101928907, LOC101928988, LOC101929076, LINC02204, THSD4-AS2, THSD4-AS1, C15orf59-AS1, LOC101929439, LOC101929457, LINGO1-AS2, LOC101929586, TMC3-AS1, LOC101929679, LINC01583, LINC01584, LINC01586, LINC01585, MIR6085, MIR6881, MIR6882, MIR7706, MIR8067, MIR6766, LINC01169, CERS3-AS1, LOC102723335, LOC102723344, LINC02206, LOC102723493, LINC02259, LOC102724034, LOC102724452, LOC103171574, PCAT29, IRAIN, SALRNA3, SALRNA2, LUNAR1, LOC104613533, LINC02205, TMEM202-AS1, LINC02255, LOC105370954, LINC02251, LINC02351, PCSK6-AS1, LOC105376731
See casesPathogenic
(Oct 24, 2012)
no assertion criteria provided
90.
GRCh37:
Chr15:72963970-75535330
GRCh38:
Chr15:72671629-75242989
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
91.
GRCh37:
Chr15:70317639-78998335
GRCh38:
Chr15:70025300-78705993
See casesPathogenic
(Mar 24, 2014)
no assertion criteria provided
92.
GRCh37:
Chr15:72977572-76019966
GRCh38:
Chr15:72685231-75727625
See casesPathogenic
(Oct 1, 2010)
no assertion criteria provided
93.
GRCh37:
Chr15:71080963-76350077
GRCh38:
Chr15:70788624-76057736
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
94.
GRCh37:
Chr15:72963970-74343898
GRCh38:
Chr15:72671629-74051557
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
95.
GRCh37:
Chr15:72921369-75535330
GRCh38:
Chr15:72629028-75242989
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
96.
GRCh37:
Chr15:72963970-75954617
GRCh38:
Chr15:72671629-75662276
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
97.
GRCh37:
Chr15:69122913-74115678
GRCh38:
Chr15:68830574-73823337
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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