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Items: 79

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr22:32439099
GRCh38:
Chr22:32043112
SLC5A1Congenital glucose-galactose malabsorptionGMAF:0.01440(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr22:32439149
GRCh38:
Chr22:32043162
SLC5A1Congenital glucose-galactose malabsorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr22:32439209
GRCh38:
Chr22:32043222
SLC5A1Congenital glucose-galactose malabsorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr22:32439218
GRCh38:
Chr22:32043231
SLC5A1Congenital glucose-galactose malabsorptionGO-ESP:0.00003(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr22:32439233
GRCh38:
Chr22:32043246
SLC5A1Congenital glucose-galactose malabsorptionGMAF:0.00120(A)
GO-ESP:0.00051(A)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr22:32439246
GRCh38:
Chr22:32043259
SLC5A1Congenital glucose-galactose malabsorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr22:32439258
GRCh38:
Chr22:32043271
SLC5A1Congenital glucose-galactose malabsorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr22:32439274
GRCh38:
Chr22:32043287
SLC5A1Congenital glucose-galactose malabsorptionGMAF:0.01400(T)
GO-ESP:0.01506(T)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr22:32439350
GRCh38:
Chr22:32043363
SLC5A1Congenital glucose-galactose malabsorptionPathogenic
(May 1, 1996)
no assertion criteria provided
10.
GRCh37:
Chr22:32439351
GRCh38:
Chr22:32043364
SLC5A1Congenital glucose-galactose malabsorptionGO-ESP:0.00001(G)Pathogenic
(May 27, 1994)
no assertion criteria provided
11.
GRCh37:
Chr22:32439369
GRCh38:
Chr22:32043382
SLC5A1Congenital glucose-galactose malabsorptionGO-ESP:0.00018(C)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr22:32445946
GRCh38:
Chr22:32049959
SLC5A1Congenital glucose-galactose malabsorptionGMAF:0.02120(G)
GO-ESP:0.04946(G)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr22:32462909
GRCh38:
Chr22:32066922
SLC5A1Congenital glucose-galactose malabsorptionGMAF:0.00040(A)
GO-ESP:0.00005(A)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr22:32463029
GRCh38:
Chr22:32067042
SLC5A1Congenital glucose-galactose malabsorptionGMAF:0.00020(A)
GO-ESP:0.00002(A)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr22:32464470
GRCh38:
Chr22:32068483
SLC5A1Congenital glucose-galactose malabsorptionGMAF:0.00080(A)
GO-ESP:0.00091(A)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr22:32477924
GRCh38:
Chr22:32081937
SLC5A1Congenital glucose-galactose malabsorptionGO-ESP:0.00004(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr22:32479101
GRCh38:
Chr22:32083114
SLC5A1Congenital glucose-galactose malabsorptionGMAF:0.00060(A)
GO-ESP:0.00020(A)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr22:32480531
GRCh38:
Chr22:32084544
SLC5A1Congenital glucose-galactose malabsorptionGO-ESP:0.00001(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr22:32480574
GRCh38:
Chr22:32084587
SLC5A1Congenital glucose-galactose malabsorptionGMAF:0.00040(A)
GO-ESP:0.00003(A)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr22:32480623
GRCh38:
Chr22:32084636
SLC5A1Congenital glucose-galactose malabsorptionGO-ESP:0.00034(G)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr22:32481013
GRCh38:
Chr22:32085026
SLC5A1Congenital glucose-galactose malabsorptionGO-ESP:0.00006(G)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr22:32482213
GRCh38:
Chr22:32086226
SLC5A1Congenital glucose-galactose malabsorptionGO-ESP:0.00002(C)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr22:32482277
GRCh38:
Chr22:32086290
SLC5A1Congenital glucose-galactose malabsorptionGMAF:0.01160(T)
GO-ESP:0.00277(T)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr22:32482311
GRCh38:
Chr22:32086324
SLC5A1Congenital glucose-galactose malabsorptionGO-ESP:0.00001(G)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr22:32482321
GRCh38:
Chr22:32086334
SLC5A1Congenital glucose-galactose malabsorptionGMAF:0.45410(G)
GO-ESP:0.37421(G)
Benign
(Jun 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr22:32487590
GRCh38:
Chr22:32091603
SLC5A1Congenital glucose-galactose malabsorptionGMAF:0.00340(T)
GO-ESP:0.00738(T)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr22:32487699
GRCh38:
Chr22:32091712
SLC5A1Congenital glucose-galactose malabsorptionGO-ESP:0.00001(G)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr22:32487700
GRCh38:
Chr22:32091713
SLC5A1Congenital glucose-galactose malabsorptionGMAF:0.02220(A)
GO-ESP:0.05010(A)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr22:32487744
GRCh38:
Chr22:32091757
SLC5A1Congenital glucose-galactose malabsorptionGMAF:0.02220(T)
GO-ESP:0.05017(T)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr22:32495279
GRCh38:
Chr22:32099292
SLC5A1Congenital glucose-galactose malabsorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr22:32498009
GRCh38:
Chr22:32102022
SLC5A1Congenital glucose-galactose malabsorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr22:32498115
GRCh38:
Chr22:32102128
SLC5A1Congenital glucose-galactose malabsorptionGMAF:0.00040(T)
GO-ESP:0.00010(T)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr22:32500768
GRCh38:
Chr22:32104781
SLC5A1Congenital glucose-galactose malabsorptionGMAF:0.01280(C)
GO-ESP:0.00365(C)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr22:32500780
GRCh38:
Chr22:32104793
SLC5A1Congenital glucose-galactose malabsorptionGO-ESP:0.00003(A)Pathogenic
(Jan 1, 2011)
no assertion criteria provided
35.
GRCh37:
Chr22:32500832
GRCh38:
Chr22:32104845
SLC5A1Congenital glucose-galactose malabsorptionGO-ESP:0.00010(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr22:32500870
GRCh38:
Chr22:32104883
SLC5A1Congenital glucose-galactose malabsorptionGMAF:0.00020(C)
GO-ESP:0.00018(C)
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr22:32505972
GRCh38:
Chr22:32109985
SLC5A1Congenital glucose-galactose malabsorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr22:32506014
GRCh38:
Chr22:32110027
SLC5A1Congenital glucose-galactose malabsorptionGO-ESP:0.00031(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr22:32506041
GRCh38:
Chr22:32110054
SLC5A1Congenital glucose-galactose malabsorptionGMAF:0.02220(G)
GO-ESP:0.05002(G)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr22:32506050
GRCh38:
Chr22:32110063
SLC5A1Congenital glucose-galactose malabsorptionGMAF:0.02220(G)
GO-ESP:0.05001(G)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr22:32506051
GRCh38:
Chr22:32110064
SLC5A1Congenital glucose-galactose malabsorptionGO-ESP:0.00204(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr22:32506104
GRCh38:
Chr22:32110117
SLC5A1Congenital glucose-galactose malabsorptionGMAF:0.03340(A)
GO-ESP:0.04541(A)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr22:32506120
GRCh38:
Chr22:32110133
SLC5A1Congenital glucose-galactose malabsorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr22:32506143
GRCh38:
Chr22:32110156
SLC5A1Congenital glucose-galactose malabsorptionGMAF:0.02220(T)
GO-ESP:0.05009(T)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr22:32506355
GRCh38:
Chr22:32110368
SLC5A1Congenital glucose-galactose malabsorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr22:32506383
GRCh38:
Chr22:32110396
SLC5A1Congenital glucose-galactose malabsorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr22:32506600
GRCh38:
Chr22:32110613
SLC5A1Congenital glucose-galactose malabsorptionGMAF:0.00420(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr22:32506623
GRCh38:
Chr22:32110636
SLC5A1Congenital glucose-galactose malabsorptionLikely benign
(Jun 14, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr22:32506710
GRCh38:
Chr22:32110723
SLC5A1Congenital glucose-galactose malabsorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr22:32506849
GRCh38:
Chr22:32110862
SLC5A1Congenital glucose-galactose malabsorptionGMAF:0.00020(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr22:32506903
GRCh38:
Chr22:32110916
SLC5A1Congenital glucose-galactose malabsorptionGMAF:0.00200(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr22:32506906
GRCh38:
Chr22:32110919
SLC5A1Congenital glucose-galactose malabsorptionGMAF:0.41170(C)Benign
(Jun 14, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr22:32506907
GRCh38:
Chr22:32110920
SLC5A1Congenital glucose-galactose malabsorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr22:32506915
GRCh38:
Chr22:32110928
SLC5A1Congenital glucose-galactose malabsorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr22:32506971
GRCh38:
Chr22:32110984
SLC5A1Congenital glucose-galactose malabsorptionGMAF:0.00780(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
56.
GRCh37:
Chr22:32506995
GRCh38:
Chr22:32111008
SLC5A1Congenital glucose-galactose malabsorptionGMAF:0.01160(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr22:32507102
GRCh38:
Chr22:32111115
SLC5A1Congenital glucose-galactose malabsorptionGMAF:0.01040(G)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr22:32507253
GRCh38:
Chr22:32111266
SLC5A1Congenital glucose-galactose malabsorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
59.
GRCh37:
Chr22:32507437
GRCh38:
Chr22:32111450
SLC5A1Congenital glucose-galactose malabsorptionGMAF:0.00260(G)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr22:32507451
GRCh38:
Chr22:32111464
SLC5A1Congenital glucose-galactose malabsorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr22:32507512
GRCh38:
Chr22:32111525
SLC5A1Congenital glucose-galactose malabsorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
62.
GRCh37:
Chr22:32507546
GRCh38:
Chr22:32111559
SLC5A1Congenital glucose-galactose malabsorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
63.
GRCh37:
Chr22:32507632
GRCh38:
Chr22:32111645
SLC5A1Congenital glucose-galactose malabsorptionGMAF:0.00540(T)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
64.
GRCh37:
Chr22:32507655
GRCh38:
Chr22:32111668
SLC5A1Congenital glucose-galactose malabsorptionGMAF:0.00080(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
65.
GRCh37:
Chr22:32507708
GRCh38:
Chr22:32111721
SLC5A1Congenital glucose-galactose malabsorptionGMAF:0.01160(A)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr22:32507759
GRCh38:
Chr22:32111772
SLC5A1Congenital glucose-galactose malabsorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr22:32507944
GRCh38:
Chr22:32111957
SLC5A1Congenital glucose-galactose malabsorptionGMAF:0.00160(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
68.
GRCh37:
Chr22:32507955
GRCh38:
Chr22:32111968
SLC5A1Congenital glucose-galactose malabsorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr22:32508004
GRCh38:
Chr22:32112017
SLC5A1Congenital glucose-galactose malabsorptionGMAF:0.17490(C)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
70.
GRCh37:
Chr22:32508140
GRCh38:
Chr22:32112153
SLC5A1Congenital glucose-galactose malabsorptionGMAF:0.02220(A)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
71.
GRCh37:
Chr22:32508332
GRCh38:
Chr22:32112345
SLC5A1Congenital glucose-galactose malabsorptionGMAF:0.00020(A)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
72.
GRCh37:
Chr22:32508445
GRCh38:
Chr22:32112458
SLC5A1Congenital glucose-galactose malabsorptionGMAF:0.11280(T)Likely benign
(Jun 14, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr22:32508457
GRCh38:
Chr22:32112470
SLC5A1Congenital glucose-galactose malabsorptionGMAF:0.03630(A)Benign
(Jun 14, 2016)
criteria provided, single submitter
74.
GRCh37:
Chr22:16054691-51237518
ACR, ACO2, ADORA2A, GRK3, ADSL, AP1B1, ARSA, ARVCF, ATF4, ATP6V1E1, BCR, BCRP4, BID, BIK, TSPO, MPPED1, CHKB, COMT, CPT1B, CRKL, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CSF2RB, CSNK1E, CYP2D6, DDT, CYB5R3, TYMP, EP300, EWSR1, FBLN1, XRCC6, GGT1, GGT5, GNAZ, GP1BB, MCHR1, GSC2, GSTT1, GSTT2, H1F0, SERPIND1, HMOX1, IGLC1, IGLL1, IL2RB, KCNJ4, LGALS1, LGALS2, LIF, LIMK2, MB, MCM5, MFNG, MGAT3, MIF, MMP11, MN1, MPST, MYH9, NAGA, NCF4, NDUFA6, DRG1, NEFH, NF2, SNU13, OSM, PDGFB, PI4KA, PMM1, SEPT5, POLR2F, PPARA, MAPK1, MAPK11, PRODH, PVALB, RAC2, RANBP1, RANGAP1, RFPL1, RPL3, MAPK12, SBF1, SLC5A1, SMTN, SLC5A4, SLC7A4, SLC25A1, SMARCB1, SNRPD3, SOX10, SREBF2, SSTR3, ST13, TBX1, TCF20, TCN2, TEF, TIMP3, CLDN5, TST, HIRA, UBE2L3, UFD1L, UPK3A, VPREB1, WNT7B, XBP1, YWHAH, ZNF70, ZNF74, DGCR6, DVL1P1, LZTR1, CLTCL1, DGCR14, SYN3, CDC45, PLA2G6, TPST2, GALR3, NIPSNAP1, APOL1, THOC5, EIF3D, MTMR3, CACNA1I, TOP3B, P2RX6, SYNGR1, LARGE1, SNAP29, GRAP2, PICK1, GAL3ST1, GTPBP1, APOBEC3B, RAB36, CELSR1, PPM1F, DEPDC5, PPP6R2, SFI1, ZBED4, JOSD1, RBX1, DGCR2, SCO2, HMGXB4, TOM1, DNAL4, SF3A1, PKDREJ, CACNG2, TAB1, SLC25A17, DDX17, TXNRD2, RASL10A, GAS2L1, RFPL3S, RFPL3, RFPL2, RFPL1S, NUP50, TOB2, KDELR3, IFT27, TRIOBP, CDC42EP1, DMC1, RABL2B, CHEK2, PACSIN2, USP18, MORC2, TNRC6B, HIC2, GRAMD4, TTLL12, MLC1, ZC3H7B, KIAA0930, TTC28, SPECC1L, GCAT, CBX6, NPTXR, PES1, CBX7, CABIN1, PRAME, SLC16A8, SEC14L2, MAPK8IP2, RBFOX2, SEZ6L, RASD2, PATZ1, SH3BP1, TSSK2, PLXNB2, SDF2L1, PPIL2, PITPNB, PISD, OSBP2, MAFF, IL17RA, BRD1, ARHGAP8, APOL2, POTEH, BCL2L13, TFIP11, C22orf31, TBC1D22A, C22orf24, CBY1, SUN2, FBXO7, RHBDD3, TTLL1, SAMM50, ATXN10, FAM19A5, TXN2, TMEM184B, SULT4A1, GGA1, RIBC2, ARFGAP3, SNORD43, TRMT2A, INPP5J, SMC1B, CYTH4, RSPH14, CSDC2, RRP7A, MCAT, APOBEC3C, DESI1, SGSM3, CECR6, CECR5, CECR3, CECR2, CARD10, PARVB, NCAPH2, UQCR10, YPEL1, ZDHHC8, VPREB3, PLA2G3, DRICH1, EIF3L, RTCB, GTSE1, MTFP1, MED15, UPB1, TUBA8, CECR1, A4GALT, MOV10L1, MIEF1, DGCR8, GNB1L, TUG1, FAM118A, TTC38, PRR34, MIOX, PRR5, PEX26, TRMU, ZMAT5, SEPT3, SUSD2, EIF4ENIF1, PANX2, TOMM22, PDXP, ASPHD2, MICAL3, MKL1, APOBEC3G, XPNPEP3, PARVG, CERK, EFCAB6, MRPL40, RTN4R, SLC2A11, CENPM, ALG12, NOL12, CRELD2, C22orf46, C22orf29, KCTD17, CCDC134, ADM2, FOXRED2, BAIAP2L2, SCUBE1, TRABD, PNPLA3, THAP7, APOL6, APOL5, APOL4, APOL3, OR11H1, GUCD1, SELENOO, SLC25A18, L3MBTL2, TBC1D10A, HDAC10, KREMEN1, ZNRF3, ASCC2, LDOC1L, POLDIP3, C22orf23, MYO18B, PHF5A, KLHL22, KIAA1644, SHANK3, DGCR6L, RIMBP3, MICALL1, TUBGCP6, KIAA1671, HPS4, SCARF2, GGTLC2, LMF2, DERL3, LRP5L, RNF185, ISX, RPS19BP1, SMDT1, SERHL, PHF21B, KLHDC7B, PIK3IP1, FAM83F, ELFN2, C1QTNF6, TNFRSF13C, SNORD139, SNORD83A, SNORD83B, GAB4, C22orf39, TANGO2, ZNF280A, SGSM1, EMID1, ANKRD54, APOBEC3D, SELENOM, ZNF280B, CCT8L2, XKR3, AIFM3, RIMBP3C, YDJC, C22orf15, HSCB, CCDC117, HORMAD2, DUSP18, C22orf42, ENTHD1, DNAJB7, CHADL, MEI1, FAM109B, NFAM1, PNPLA5, CDPF1, CCDC116, CABP7, TMPRSS6, APOBEC3H, WBP2NL, TTLL8, POLR3H, RNF215, APOBEC3A, APOBEC3F, PRR14L, SERHL2, BPIFC, TMEM211, SEC14L3, RGL4, ATP5L2, SEC14L4, SLC35E4, TEX33, USP41, LRRC75B, BCRP2, CHCHD10, IL17REL, SRRD, MIRLET7A3, MIRLET7B, MIR130B, MIR33A, DENND6B, PIM3, RIMBP3B, PIWIL3, MIAT, SHISA8, ODF3B, CCDC157, PRR5-ARHGAP8, BCRP3, SYCE3, TMEM191C, FAM227A, GATSL3, FAM230A, GSTT2B, MIR659, GGTLC3, TMEM191B, GGT2, SEC14L6, DDTL, ZNF72P, IGLL5
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
75.
GRCh37:
Chr22:23621418-36643415
GRCh38:
Chr22:23279231-36247369
See casesPathogenic
(Feb 14, 2012)
no assertion criteria provided
76.
GRCh37:
Chr22:21261514-37583387
GRCh38:
Chr22:20907226-37187347
ADORA2A, GRK3, AP1B1, BCR, BCRP4, CRKL, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CSF2RB, DDT, EWSR1, GGT1, GGT5, GNAZ, GSTT2, HMOX1, IGL, IGLC1, IGLC2, IGLC3, IGLL1, IL2RB, LIF, LIMK2, MB, MCM5, MIF, MMP11, MN1, MPST, MYH9, NCF4, DRG1, NEFH, NF2, OSM, MAPK1, PVALB, RFPL1, SLC5A1, SMTN, SLC5A4, SLC7A4, SMARCB1, SNRPD3, TCN2, TIMP3, TST, UBE2L3, VPREB1, XBP1, YWHAH, ZNF70, LZTR1, SYN3, TPST2, NIPSNAP1, APOL1, THOC5, EIF3D, MTMR3, TOP3B, P2RX6, LARGE1, GAL3ST1, RAB36, PPM1F, DEPDC5, SFI1, HMGXB4, TOM1, SF3A1, CACNG2, RASL10A, GAS2L1, RFPL3S, RFPL3, RFPL2, RFPL1S, IFT27, CHEK2, MORC2, HIC2, TTC28, SPECC1L, PES1, CABIN1, PRAME, SEC14L2, RBFOX2, SEZ6L, RASD2, PATZ1, SDF2L1, PPIL2, PITPNB, PISD, OSBP2, APOL2, TFIP11, C22orf31, C22orf24, FBXO7, RHBDD3, TXN2, INPP5J, RSPH14, IGLV11-55, IGLV10-54, IGLV9-49, IGLV8-61, IGLV7-46, IGLV7-43, IGLV6-57, IGLV5-52, IGLV5-48, IGLV5-45, IGLV5-37, IGLV4-69, IGLV4-60, IGLV4-3, IGLV3-32, IGLV3-27, IGLV3-25, IGLV3-22, IGLV3-21, IGLV3-19, IGLV3-16, IGLV3-12, IGLV3-10, IGLV3-9, IGLV3-1, IGLV2-33, IGLV2-23, IGLV2-18, IGLV2-14, IGLV2-11, IGLV2-8, IGLV1-51, IGLV1-50, IGLV1-47, IGLV1-44, IGLV1-40, IGLV1-36, IGLJ7, IGLJ6, IGLJ5, IGLJ4, IGLJ3, IGLJ2, IGLJ1, IGLC7, UQCR10, YPEL1, VPREB3, PLA2G3, DRICH1, RTCB, MTFP1, UPB1, LINC01521, TUG1, ZMAT5, SUSD2, EIF4ENIF1, ASPHD2, SLC2A11, KCTD17, FOXRED2, THAP7, APOL6, APOL5, APOL4, APOL3, GUCD1, TBC1D10A, KREMEN1, IGLVVI-22-1, ZNRF3, ASCC2, MYO18B, KIAA1656, KIAA1671, HPS4, GGTLC2, DERL3, LRP5L, RNF185, ISX, PIK3IP1, C1QTNF6, ZNF280A, SGSM1, EMID1, SELENOM, ZNF280B, AIFM3, RIMBP3C, YDJC, C22orf15, HSCB, CCDC117, HORMAD2, DUSP18, MORC2-AS1, C22orf42, CCDC116, CABP7, TMPRSS6, RNF215, PRR14L, BPIFC, TMEM211, SEC14L3, RGL4, MIF-AS1, LOC284898, TTC28-AS1, SEC14L4, LOC284912, SLC35E4, LOC339666, TEX33, LINC01658, LRRC75B, LRRC74B, BCRP2, CHCHD10, SRRD, MIR130B, THAP7-AS1, RIMBP3B, PIWIL3, MIAT, CCDC157, FAM230B, BCRP3, TMEM191C, ADORA2A-AS1, LL22NC03-63E9.3, PRAMENP, GATSL3, GSTT2B, MIR649, MIR650, GGT2, SEC14L6, DDTL, SNORD125, MIR301B, LOC100128531, MIR548J, MIR3200, MIR3199-2, MIR3199-1, IGLL5, MIR3909, MIR3653, MIR3928, LARGE-AS1, LL22NC01-81G9.3, LOC100507599, LOC100507657, MIR4764, MIR5571, RNU6-28P, ZNRF3-AS1, LOC100996335, SPECC1L-ADORA2A, ISX-AS1, LINC01637, LINC01659, LINC01422, HORMAD2-AS1, PIK3IP1-AS1, PCAT14, MIR6069, MIR6819, MIR7109, MIR5739, MIR6817, MIR6818, MIATNB, LINC01399, LINC01651, LOC105372977, LINC01638, LINC01640, LINC01643, LOC105373021, LOC107985532
See casesPathogenic
(Nov 4, 2011)
no assertion criteria provided
77.
GRCh37:
Chr22:17397633-51178213
GRCh38:
Chr22:16916743-50739785
ACR, ACO2, ADORA2A, GRK3, ADSL, AP1B1, ARSA, ARVCF, ATF4, ATP6V1E1, BCR, BCRP4, BID, BIK, TSPO, MPPED1, CHKB, COMT, CPT1B, CRKL, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CSF2RB, CSNK1E, CYP2D6, DDT, CYB5R3, TYMP, EP300, EWSR1, FBLN1, XRCC6, GGT1, GGT5, GNAZ, GP1BB, MCHR1, GSC2, GSTT2, H1F0, SERPIND1, HMOX1, IGL, IGLC1, IGLC2, IGLC3, IGLL1, IL2RB, KCNJ4, LGALS1, LGALS2, LIF, LIMK2, MB, MCM5, MFNG, MGAT3, MIF, MMP11, MN1, MPST, MYH9, NAGA, NCF4, NDUFA6, DRG1, NEFH, NF2, SNU13, OSM, PDGFB, PI4KA, PMM1, SEPT5, POLR2F, PPARA, MAPK1, MAPK11, PRODH, PVALB, RAC2, RANBP1, RANGAP1, RFPL1, RPL3, MAPK12, SBF1, SLC5A1, SMTN, SLC5A4, SLC7A4, SLC25A1, SMARCB1, SNRPD3, SOX10, SREBF2, SSTR3, ST13, TBX1, TCF20, TCN2, TEF, TIMP3, CLDN5, TRU-TCA2-1, TST, HIRA, UBE2L3, UFD1L, UPK3A, VPREB1, WNT7B, XBP1, YWHAH, ZNF70, ZNF74, DGCR6, DVL1P1, LZTR1, CLTCL1, DGCR14, SYN3, CDC45, PLA2G6, TPST2, GALR3, NIPSNAP1, APOL1, THOC5, EIF3D, MTMR3, CACNA1I, TOP3B, P2RX6, SYNGR1, LARGE1, SNAP29, GRAP2, PICK1, GAL3ST1, GTPBP1, APOBEC3B, RAB36, CELSR1, PPM1F, DEPDC5, PPP6R2, SFI1, ZBED4, JOSD1, RBX1, DGCR2, SCO2, HMGXB4, TOM1, DNAL4, SF3A1, PKDREJ, CACNG2, TAB1, SLC25A17, DDX17, TXNRD2, RASL10A, GAS2L1, RFPL3S, RFPL3, RFPL2, RFPL1S, NUP50, TOB2, KDELR3, IFT27, TRIOBP, CDC42EP1, DMC1, CHEK2, PACSIN2, USP18, MORC2, TNRC6B, HIC2, GRAMD4, TTLL12, MLC1, ZC3H7B, KIAA0930, TTC28, SPECC1L, GCAT, CBX6, NPTXR, PES1, CBX7, CABIN1, PRAME, SLC16A8, SEC14L2, MAPK8IP2, RBFOX2, SEZ6L, RASD2, PATZ1, SH3BP1, TSSK2, PLXNB2, SDF2L1, PPIL2, PITPNB, PISD, OSBP2, MAFF, IL17RA, BRD1, ARHGAP8, APOL2, BCL2L13, TFIP11, C22orf31, TBC1D22A, C22orf24, CBY1, SUN2, DGCR11, DGCR9, FBXO7, RHBDD3, TTLL1, SAMM50, ATXN10, FAM19A5, TXN2, TMEM184B, SULT4A1, GGA1, RIBC2, DGCR5, DGCR10, ARFGAP3, SNORD43, TRMT2A, INPP5J, SMC1B, CYTH4, RSPH14, CSDC2, RRP7A, MCAT, APOBEC3C, DESI1, SGSM3, CECR6, CECR5, CECR3, CECR2, IGLV11-55, IGLV10-54, IGLV9-49, IGLV8-61, IGLV7-46, IGLV7-43, IGLV6-57, IGLV5-52, IGLV5-48, IGLV5-45, IGLV5-37, IGLV4-69, IGLV4-60, IGLV4-3, IGLV3-32, IGLV3-27, IGLV3-25, IGLV3-22, IGLV3-21, IGLV3-19, IGLV3-16, IGLV3-12, IGLV3-10, IGLV3-9, IGLV3-1, IGLV2-33, IGLV2-23, IGLV2-18, IGLV2-14, IGLV2-11, IGLV2-8, IGLV1-51, IGLV1-50, IGLV1-47, IGLV1-44, IGLV1-40, IGLV1-36, IGLJ7, IGLJ6, IGLJ5, IGLJ4, IGLJ3, IGLJ2, IGLJ1, IGLC7, CARD10, PARVB, NCAPH2, UQCR10, YPEL1, ZDHHC8, VPREB3, PLA2G3, DRICH1, EIF3L, RTCB, GTSE1, MTFP1, MED15, UPB1, TUBA8, CECR1, A4GALT, MOV10L1, MIEF1, DGCR8, GNB1L, LINC01521, TUG1, FAM118A, TTC38, PRR34, MIOX, PRR5, PEX26, TRMU, ZMAT5, SEPT3, SUSD2, EIF4ENIF1, PANX2, TOMM22, PDXP, ASPHD2, MICAL3, MKL1, APOBEC3G, XPNPEP3, PARVG, CERK, EFCAB6, MRPL40, RTN4R, SLC2A11, CENPM, ALG12, NOL12, CRELD2, C22orf46, C22orf29, KCTD17, CCDC134, ADM2, FOXRED2, BAIAP2L2, SCUBE1, TRABD, PNPLA3, THAP7, APOL6, APOL5, APOL4, APOL3, GUCD1, SELENOO, SLC25A18, L3MBTL2, TBC1D10A, HDAC10, KREMEN1, IGLVVI-22-1, ZNRF3, ASCC2, LDOC1L, POLDIP3, C22orf23, MYO18B, PHF5A, KLHL22, KIAA1644, SHANK3, DGCR6L, KIAA1656, RIMBP3, MICALL1, TUBGCP6, KIAA1671, HPS4, LOC90834, SCARF2, GGTLC2, LMF2, DERL3, LRP5L, RNF185, ISX, RPS19BP1, SMDT1, SERHL, PHF21B, KLHDC7B, PIK3IP1, FAM83F, ELFN2, C1QTNF6, TNFRSF13C, SNORD139, SNORD83A, SNORD83B, GAB4, C22orf39, TANGO2, ZNF280A, SGSM1, EMID1, ANKRD54, APOBEC3D, SELENOM, ZNF280B, LINC00895, LINC00896, AIFM3, RIMBP3C, YDJC, C22orf15, HSCB, CCDC117, HORMAD2, DUSP18, MORC2-AS1, C22orf42, ENTHD1, DNAJB7, CHADL, MEI1, FAM109B, NFAM1, PNPLA5, PRR34-AS1, CDPF1, GTSE1-AS1, CCDC116, CABP7, TMPRSS6, APOBEC3H, WBP2NL, TTLL8, POLR3H, LINC00528, RNF215, APOBEC3A, APOBEC3F, PRR14L, SERHL2, BPIFC, TMEM211, SEC14L3, RGL4, RNU12, ATP5L2, LOC284865, MIF-AS1, LOC284898, TTC28-AS1, SEC14L4, LOC284912, LOC284930, LOC284933, SLC35E4, LOC339666, TEX33, LINC00634, LOC339685, C22orf34, USP41, CHKB-CPT1B, CCDC188, LINC01658, LRRC75B, LINC00207, LRRC74B, BCRP2, CHCHD10, MIRLET7BHG, LINC00898, IL17REL, SRRD, MIRLET7A3, MIRLET7B, MIR130B, MIR185, MIR33A, LINC00229, DENND6B, PIM3, THAP7-AS1, RIMBP3B, PIWIL3, MIAT, SHISA8, ODF3B, CCDC157, PRR5-ARHGAP8, FAM230B, LINC01662, TBC1D22A-AS1, BCRP3, SYCE3, TMEM191C, ADORA2A-AS1, FAM227A, LL22NC03-63E9.3, PRAMENP, GATSL3, FAM230A, GSTT2B, MIR648, MIR649, MIR650, MIR658, MIR659, GGTLC3, TMEM191B, GGT2, LINC01660, SEC14L6, DDTL, SNORD125, MIR301B, LOC100128531, LINC01310, CECR7, CECR5-AS1, LOC100130899, NDUFA6-AS1, CHKB-AS1, LINC01634, LINC00899, MIR1286, MIR1249, MIR1306, MIR1281, MIR548J, MIR3200, MIR3201, MIR3199-2, MIR3198-1, MIR3199-1, IGLL5, MIR3909, MIR3619, MIR3653, MIR3618, MIR3667, MIR3928, LARGE-AS1, LL22NC01-81G9.3, LOC100506271, LOC100506472, LOC100506679, NUP50-AS1, LINC01589, LOC100507599, LOC100507657, SEPT5-GP1BB, MIR4763, MIR4534, MIR4762, MIR378I, MIR4766, MIR4764, MIR4761, MIR4535, LINC01311, MIR5571, RNU6-28P, ZNRF3-AS1, EFCAB6-AS1, APOBEC3B-AS1, LOC100996335, LINC01664, LOC100996415, LINC01663, SPECC1L-ADORA2A, ISX-AS1, LOC101927051, LOC101927257, EP300-AS1, LOC101927447, LINC01656, LINC01644, LOC101927859, LINC01637, LOC101929372, LINC01659, LINC01422, HORMAD2-AS1, PIK3IP1-AS1, PCAT14, MIR6069, MIR6816, MIR6819, MIR6820, MIR6821, MIR7109, MIR5739, MIR6817, MIR6818, MIR6889, LINC01315, MIATNB, LOC400927-CSNK1E, LINC01399, MGAT3-AS1, LINC01651, LOC105372977, LINC01638, LINC01640, LINC01643, LOC105373021, LOC105373031, LOC105373044, LOC105373051, LINC01639, LOC105373100, SNORA92, SNORD140, LOC107985532
See casesPathogenic
(Jul 30, 2010)
no assertion criteria provided
78.
GRCh37:
Chr22:17397498-51178264
GRCh38:
Chr22:16916608-50739836
ACR, ACO2, ADORA2A, GRK3, ADSL, AP1B1, ARSA, ARVCF, ATF4, ATP6V1E1, BCR, BCRP4, BID, BIK, TSPO, MPPED1, CHKB, COMT, CPT1B, CRKL, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CSF2RB, CSNK1E, CYP2D6, DDT, CYB5R3, TYMP, EP300, EWSR1, FBLN1, XRCC6, GGT1, GGT5, GNAZ, GP1BB, MCHR1, GSC2, GSTT2, H1F0, SERPIND1, HMOX1, IGL, IGLC1, IGLC2, IGLC3, IGLL1, IL2RB, KCNJ4, LGALS1, LGALS2, LIF, LIMK2, MB, MCM5, MFNG, MGAT3, MIF, MMP11, MN1, MPST, MYH9, NAGA, NCF4, NDUFA6, DRG1, NEFH, NF2, SNU13, OSM, PDGFB, PI4KA, PMM1, SEPT5, POLR2F, PPARA, MAPK1, MAPK11, PRODH, PVALB, RAC2, RANBP1, RANGAP1, RFPL1, RPL3, MAPK12, SBF1, SLC5A1, SMTN, SLC5A4, SLC7A4, SLC25A1, SMARCB1, SNRPD3, SOX10, SREBF2, SSTR3, ST13, TBX1, TCF20, TCN2, TEF, TIMP3, CLDN5, TRU-TCA2-1, TST, HIRA, UBE2L3, UFD1L, UPK3A, VPREB1, WNT7B, XBP1, YWHAH, ZNF70, ZNF74, DGCR6, DVL1P1, LZTR1, CLTCL1, DGCR14, SYN3, CDC45, PLA2G6, TPST2, GALR3, NIPSNAP1, APOL1, THOC5, EIF3D, MTMR3, CACNA1I, TOP3B, P2RX6, SYNGR1, LARGE1, SNAP29, GRAP2, PICK1, GAL3ST1, GTPBP1, APOBEC3B, RAB36, CELSR1, PPM1F, DEPDC5, PPP6R2, SFI1, ZBED4, JOSD1, RBX1, DGCR2, SCO2, HMGXB4, TOM1, DNAL4, SF3A1, PKDREJ, CACNG2, TAB1, SLC25A17, DDX17, TXNRD2, RASL10A, GAS2L1, RFPL3S, RFPL3, RFPL2, RFPL1S, NUP50, TOB2, KDELR3, IFT27, TRIOBP, CDC42EP1, DMC1, CHEK2, PACSIN2, USP18, MORC2, TNRC6B, HIC2, GRAMD4, TTLL12, MLC1, ZC3H7B, KIAA0930, TTC28, SPECC1L, GCAT, CBX6, NPTXR, PES1, CBX7, CABIN1, PRAME, SLC16A8, SEC14L2, MAPK8IP2, RBFOX2, SEZ6L, RASD2, PATZ1, SH3BP1, TSSK2, PLXNB2, SDF2L1, PPIL2, PITPNB, PISD, OSBP2, MAFF, IL17RA, BRD1, ARHGAP8, APOL2, BCL2L13, TFIP11, C22orf31, TBC1D22A, C22orf24, CBY1, SUN2, DGCR11, DGCR9, FBXO7, RHBDD3, TTLL1, SAMM50, ATXN10, FAM19A5, TXN2, TMEM184B, SULT4A1, GGA1, RIBC2, DGCR5, DGCR10, ARFGAP3, SNORD43, TRMT2A, INPP5J, SMC1B, CYTH4, RSPH14, CSDC2, RRP7A, MCAT, APOBEC3C, DESI1, SGSM3, CECR6, CECR5, CECR3, CECR2, IGLV11-55, IGLV10-54, IGLV9-49, IGLV8-61, IGLV7-46, IGLV7-43, IGLV6-57, IGLV5-52, IGLV5-48, IGLV5-45, IGLV5-37, IGLV4-69, IGLV4-60, IGLV4-3, IGLV3-32, IGLV3-27, IGLV3-25, IGLV3-22, IGLV3-21, IGLV3-19, IGLV3-16, IGLV3-12, IGLV3-10, IGLV3-9, IGLV3-1, IGLV2-33, IGLV2-23, IGLV2-18, IGLV2-14, IGLV2-11, IGLV2-8, IGLV1-51, IGLV1-50, IGLV1-47, IGLV1-44, IGLV1-40, IGLV1-36, IGLJ7, IGLJ6, IGLJ5, IGLJ4, IGLJ3, IGLJ2, IGLJ1, IGLC7, CARD10, PARVB, NCAPH2, UQCR10, YPEL1, ZDHHC8, VPREB3, PLA2G3, DRICH1, EIF3L, RTCB, GTSE1, MTFP1, MED15, UPB1, TUBA8, CECR1, A4GALT, MOV10L1, MIEF1, DGCR8, GNB1L, LINC01521, TUG1, FAM118A, TTC38, PRR34, MIOX, PRR5, PEX26, TRMU, ZMAT5, SEPT3, SUSD2, EIF4ENIF1, PANX2, TOMM22, PDXP, ASPHD2, MICAL3, MKL1, APOBEC3G, XPNPEP3, PARVG, CERK, EFCAB6, MRPL40, RTN4R, SLC2A11, CENPM, ALG12, NOL12, CRELD2, C22orf46, C22orf29, KCTD17, CCDC134, ADM2, FOXRED2, BAIAP2L2, SCUBE1, TRABD, PNPLA3, THAP7, APOL6, APOL5, APOL4, APOL3, GUCD1, SELENOO, SLC25A18, L3MBTL2, TBC1D10A, HDAC10, KREMEN1, IGLVVI-22-1, ZNRF3, ASCC2, LDOC1L, POLDIP3, C22orf23, MYO18B, PHF5A, KLHL22, KIAA1644, SHANK3, DGCR6L, KIAA1656, RIMBP3, MICALL1, TUBGCP6, KIAA1671, HPS4, LOC90834, SCARF2, GGTLC2, LMF2, DERL3, LRP5L, RNF185, ISX, RPS19BP1, SMDT1, SERHL, PHF21B, KLHDC7B, PIK3IP1, FAM83F, ELFN2, C1QTNF6, TNFRSF13C, SNORD139, SNORD83A, SNORD83B, GAB4, C22orf39, TANGO2, ZNF280A, SGSM1, EMID1, ANKRD54, APOBEC3D, SELENOM, ZNF280B, LINC00895, LINC00896, AIFM3, RIMBP3C, YDJC, C22orf15, HSCB, CCDC117, HORMAD2, DUSP18, MORC2-AS1, C22orf42, ENTHD1, DNAJB7, CHADL, MEI1, FAM109B, NFAM1, PNPLA5, PRR34-AS1, CDPF1, GTSE1-AS1, CCDC116, CABP7, TMPRSS6, APOBEC3H, WBP2NL, TTLL8, POLR3H, LINC00528, RNF215, APOBEC3A, APOBEC3F, PRR14L, SERHL2, BPIFC, TMEM211, SEC14L3, RGL4, RNU12, ATP5L2, LOC284865, MIF-AS1, LOC284898, TTC28-AS1, SEC14L4, LOC284912, LOC284930, LOC284933, SLC35E4, LOC339666, TEX33, LINC00634, LOC339685, C22orf34, USP41, CHKB-CPT1B, CCDC188, LINC01658, LRRC75B, LINC00207, LRRC74B, BCRP2, CHCHD10, MIRLET7BHG, LINC00898, IL17REL, SRRD, MIRLET7A3, MIRLET7B, MIR130B, MIR185, MIR33A, LINC00229, DENND6B, PIM3, THAP7-AS1, RIMBP3B, PIWIL3, MIAT, SHISA8, ODF3B, CCDC157, PRR5-ARHGAP8, FAM230B, LINC01662, TBC1D22A-AS1, BCRP3, SYCE3, TMEM191C, ADORA2A-AS1, FAM227A, LL22NC03-63E9.3, PRAMENP, GATSL3, FAM230A, GSTT2B, MIR648, MIR649, MIR650, MIR658, MIR659, GGTLC3, TMEM191B, GGT2, LINC01660, SEC14L6, DDTL, SNORD125, MIR301B, LOC100128531, LINC01310, CECR7, CECR5-AS1, LOC100130899, NDUFA6-AS1, CHKB-AS1, LINC01634, LINC00899, MIR1286, MIR1249, MIR1306, MIR1281, MIR548J, MIR3200, MIR3201, MIR3199-2, MIR3198-1, MIR3199-1, IGLL5, MIR3909, MIR3619, MIR3653, MIR3618, MIR3667, MIR3928, LARGE-AS1, LL22NC01-81G9.3, LOC100506271, LOC100506472, LOC100506679, NUP50-AS1, LINC01589, LOC100507599, LOC100507657, SEPT5-GP1BB, MIR4763, MIR4534, MIR4762, MIR378I, MIR4766, MIR4764, MIR4761, MIR4535, LINC01311, MIR5571, RNU6-28P, ZNRF3-AS1, EFCAB6-AS1, APOBEC3B-AS1, LOC100996335, LINC01664, LOC100996415, LINC01663, SPECC1L-ADORA2A, ISX-AS1, LOC101927051, LOC101927257, EP300-AS1, LOC101927447, LINC01656, LINC01644, LOC101927859, LINC01637, LOC101929372, LINC01659, LINC01422, HORMAD2-AS1, PIK3IP1-AS1, PCAT14, MIR6069, MIR6816, MIR6819, MIR6820, MIR6821, MIR7109, MIR5739, MIR6817, MIR6818, MIR6889, LINC01315, MIATNB, LOC400927-CSNK1E, LINC01399, MGAT3-AS1, LINC01651, LOC105372977, LINC01638, LINC01640, LINC01643, LOC105373021, LOC105373031, LOC105373044, LOC105373051, LINC01639, LOC105373100, SNORA92, SNORD140, LOC107985532
See casesPathogenic
(Sep 18, 2013)
no assertion criteria provided
79.
GRCh37:
Chr22:27375542-34388209
GRCh38:
Chr22:26979579-33992220
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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