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Items: 1 to 100 of 113

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
ChrX:70338558
GRCh38:
ChrX:71118708
MED12not specifiedLikely benign
(Mar 18, 2016)
criteria provided, single submitter
2.
GRCh37:
ChrX:70338631
GRCh38:
ChrX:71118781
MED12not specifiedLikely benign
(Feb 23, 2016)
criteria provided, single submitter
3.
GRCh37:
ChrX:70338697
GRCh38:
ChrX:71118847
MED12not providedLikely pathogenic
(Mar 10, 2016)
criteria provided, single submitter
4.
GRCh37:
ChrX:70339204
GRCh38:
ChrX:71119354
MED12not specifiedLikely benign
(Dec 1, 2015)
criteria provided, single submitter
5.
GRCh37:
ChrX:70339234
GRCh38:
ChrX:71119384
MED12not specifiedLikely benign
(May 17, 2016)
criteria provided, single submitter
6.
GRCh37:
ChrX:70339339-70339340
GRCh38:
ChrX:71119489-71119490
MED12FG syndrome, not specifiedGMAF:0.00500(-)
GO-ESP:0.00314(-)
Benign
(Feb 4, 2016)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
ChrX:70339340
GRCh38:
ChrX:71119490
MED12not specifiedLikely benign
(May 9, 2016)
criteria provided, single submitter
8.
GRCh37:
ChrX:70339603
GRCh38:
ChrX:71119753
MED12not specifiedUncertain significance
(Dec 20, 2016)
criteria provided, single submitter
9.
GRCh37:
ChrX:70339712
GRCh38:
ChrX:71119862
MED12not specifiedGMAF:0.00110(A)
GO-ESP:0.00025(A)
Conflicting interpretations of pathogenicity
(Dec 2, 2015)
criteria provided, conflicting interpretations
10.
GRCh37:
ChrX:70339715
GRCh38:
ChrX:71119865
MED12not specifiedBenign
(Jun 26, 2016)
criteria provided, single submitter
11.
GRCh37:
ChrX:70339852
GRCh38:
ChrX:71120002
MED12not specifiedGMAF:0.00270(T)Uncertain significance
(Dec 15, 2016)
criteria provided, single submitter
12.
GRCh37:
ChrX:70339852
GRCh38:
ChrX:71120002
MED12not specifiedGMAF:0.00270(T)
GO-ESP:0.00086(T)
Benign
(Jul 8, 2014)
criteria provided, single submitter
13.
GRCh37:
ChrX:70339905
GRCh38:
ChrX:71120055
MED12not specifiedGMAF:0.00030(G)
GO-ESP:0.00025(G)
Benign
(Feb 6, 2015)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
ChrX:70340835
GRCh38:
ChrX:71120985
MED12not specifiedGO-ESP:0.00002(G)Uncertain significance
(Oct 9, 2014)
criteria provided, single submitter
15.
GRCh37:
ChrX:70341163
GRCh38:
ChrX:71121313
MED12not specifiedLikely benign
(Apr 19, 2016)
criteria provided, single submitter
16.
GRCh37:
ChrX:70341173
GRCh38:
ChrX:71121323
MED12not specifiedLikely benign
(Dec 6, 2016)
criteria provided, single submitter
17.
GRCh37:
ChrX:70341499
GRCh38:
ChrX:71121649
MED12not specified, Cardiovascular phenotypeGO-ESP:0.00013(C)Conflicting interpretations of pathogenicity
(Jun 24, 2015)
criteria provided, conflicting interpretations
18.
GRCh37:
ChrX:70341593
GRCh38:
ChrX:71121743
MED12not specifiedGO-ESP:0.00005(T)Uncertain significance
(Dec 13, 2016)
criteria provided, single submitter
19.
GRCh37:
ChrX:70341604
GRCh38:
ChrX:71121754
MED12not specifiedGO-ESP:0.00001(G)Uncertain significance
(Jul 19, 2016)
criteria provided, single submitter
20.
GRCh37:
ChrX:70341684
GRCh38:
ChrX:71121834
MED12not specifiedGO-ESP:0.00017(T)Benign
(Jul 31, 2014)
criteria provided, single submitter
21.
GRCh37:
ChrX:70342115
GRCh38:
ChrX:71122265
MED12not specifiedBenign
(Nov 18, 2015)
criteria provided, single submitter
22.
GRCh37:
ChrX:70342211
GRCh38:
ChrX:71122361
MED12not specifiedGMAF:0.00080(C)
GO-ESP:0.00313(C)
Conflicting interpretations of pathogenicity
(Jun 6, 2014)
criteria provided, conflicting interpretations
23.
GRCh37:
ChrX:70342373
GRCh38:
ChrX:71122523
MED12not specifiedGO-ESP:0.00004(T)Uncertain significance
(Aug 29, 2014)
criteria provided, single submitter
24.
GRCh37:
ChrX:70342475
GRCh38:
ChrX:71122625
MED12not specifiedLikely benign
(Oct 17, 2016)
criteria provided, single submitter
25.
GRCh37:
ChrX:70342577
GRCh38:
ChrX:71122727
MED12not specifiedLikely benign
(Jun 8, 2016)
criteria provided, single submitter
26.
GRCh37:
ChrX:70342625
GRCh38:
ChrX:71122775
MED12not specifiedGMAF:0.00370(T)
GO-ESP:0.00076(T)
Benign
(Jul 29, 2014)
criteria provided, single submitter
27.
GRCh37:
ChrX:70342730
GRCh38:
ChrX:71122880
MED12not specifiedLikely benign
(Nov 7, 2016)
criteria provided, single submitter
28.
GRCh37:
ChrX:70343061
GRCh38:
ChrX:71123211
MED12not specifiedLikely benign
(Sep 27, 2016)
criteria provided, single submitter
29.
GRCh37:
ChrX:70343436
GRCh38:
ChrX:71123586
MED12not specifiedLikely benign
(Mar 30, 2016)
criteria provided, single submitter
30.
GRCh37:
ChrX:70343486
GRCh38:
ChrX:71123636
MED12not specifiedUncertain significance
(Feb 9, 2015)
criteria provided, single submitter
31.
GRCh37:
ChrX:70343521
GRCh38:
ChrX:71123671
MED12not specifiedGMAF:0.00320(A)
GO-ESP:0.00157(A)
Conflicting interpretations of pathogenicity
(Feb 19, 2016)
criteria provided, conflicting interpretations
32.
GRCh37:
ChrX:70343574
GRCh38:
ChrX:71123724
MED12not specifiedLikely benign
(Aug 17, 2016)
criteria provided, single submitter
33.
GRCh37:
ChrX:70343990
GRCh38:
ChrX:71124140
MED12not specifiedLikely benign
(Dec 13, 2016)
criteria provided, single submitter
34.
GRCh37:
ChrX:70344018
GRCh38:
ChrX:71124168
MED12not specifiedGO-ESP:0.00001(A)Uncertain significance
(Oct 14, 2014)
criteria provided, single submitter
35.
GRCh37:
ChrX:70344113
GRCh38:
ChrX:71124263
MED12X-linked mental retardation with marfanoid habitus syndrome, FG syndrome, not specified,
not provided, Ohdo syndrome, X-linked
GO-ESP:0.00002(G)Conflicting interpretations of pathogenicity
(Apr 29, 2016)
criteria provided, conflicting interpretations
36.
GRCh37:
ChrX:70344156
GRCh38:
ChrX:71124306
MED12not specifiedUncertain significance
(Dec 29, 2016)
criteria provided, single submitter
37.
GRCh37:
ChrX:70344806
GRCh38:
ChrX:71124956
MED12not specifiedLikely benign
(Feb 22, 2016)
criteria provided, single submitter
38.
GRCh37:
ChrX:70344863
GRCh38:
ChrX:71125013
MED12not specifiedUncertain significance
(Apr 16, 2015)
criteria provided, single submitter
39.
GRCh37:
ChrX:70345226
GRCh38:
ChrX:71125376
MED12not specifiedUncertain significance
(Apr 2, 2015)
criteria provided, single submitter
40.
GRCh37:
ChrX:70345233
GRCh38:
ChrX:71125383
MED12not specified, Cardiovascular phenotypeGO-ESP:0.02145(A)
GMAF:0.02280(A)
GO-ESP:0.00624(A)
Benign
(Jul 20, 2015)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
ChrX:70347222
GRCh38:
ChrX:71127372
MED12FG syndrome, not specifiedGMAF:0.00530(T)
GO-ESP:0.00201(T)
Benign
(Nov 24, 2015)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
ChrX:70347330
GRCh38:
ChrX:71127480
MED12not specifiedGMAF:0.00080(A)
GO-ESP:0.00109(A)
Benign
(Mar 1, 2015)
criteria provided, single submitter
43.
GRCh37:
ChrX:70347965
GRCh38:
ChrX:71128115
MED12FG syndrome, not specified, Cardiovascular phenotype
GMAF:0.00030(T)
GO-ESP:0.00158(T)
Benign/Likely benign
(Mar 8, 2016)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
ChrX:70348146
GRCh38:
ChrX:71128296
MED12not specifiedUncertain significance
(May 21, 2014)
criteria provided, single submitter
45.
GRCh37:
ChrX:70348505
GRCh38:
ChrX:71128655
MED12not specifiedLikely benign
(Nov 16, 2016)
criteria provided, single submitter
46.
GRCh37:
ChrX:70349004
GRCh38:
ChrX:71129154
MED12not specifiedLikely benign
(Feb 1, 2016)
criteria provided, single submitter
47.
GRCh37:
ChrX:70349082
GRCh38:
ChrX:71129232
MED12not specifiedLikely benign
(Dec 5, 2016)
criteria provided, single submitter
48.
GRCh37:
ChrX:70349255
GRCh38:
ChrX:71129405
MED12not specifiedUncertain significance
(Dec 15, 2016)
criteria provided, single submitter
49.
GRCh37:
ChrX:70349537
GRCh38:
ChrX:71129687
MED12not specifiedLikely benign
(Dec 14, 2016)
criteria provided, single submitter
50.
GRCh37:
ChrX:70349639
GRCh38:
ChrX:71129789
MED12not specifiedLikely benign
(Jun 29, 2016)
criteria provided, single submitter
51.
GRCh37:
ChrX:70349681
GRCh38:
ChrX:71129831
MED12not specifiedLikely benign
(Apr 14, 2016)
criteria provided, single submitter
52.
GRCh37:
ChrX:70349900
GRCh38:
ChrX:71130050
MED12not specifiedUncertain significance
(Feb 10, 2015)
criteria provided, single submitter
53.
GRCh37:
ChrX:70349945-70349947
GRCh38:
ChrX:71130095-71130097
MED12not specifiedUncertain significance
(Dec 1, 2014)
criteria provided, single submitter
54.
GRCh37:
ChrX:70349959
GRCh38:
ChrX:71130109
MED12not specifiedLikely benign
(Jun 22, 2016)
criteria provided, single submitter
55.
GRCh37:
ChrX:70350038
GRCh38:
ChrX:71130188
MED12not specifiedGO-ESP:0.00005(T)Uncertain significance
(Aug 17, 2016)
criteria provided, single submitter
56.
GRCh37:
ChrX:70351467
GRCh38:
ChrX:71131617
MED12not specified, Cardiovascular phenotypeGO-ESP:0.00009(G)Uncertain significance
(Sep 4, 2015)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
ChrX:70351950
GRCh38:
ChrX:71132100
MED12FG syndrome, not providedPathogenic
(Aug 17, 2016)
criteria provided, single submitter
58.
GRCh37:
ChrX:70351982
GRCh38:
ChrX:71132132
MED12not specified, Cardiovascular phenotypeGO-ESP:0.00005(C)Conflicting interpretations of pathogenicity
(Jun 25, 2015)
criteria provided, conflicting interpretations
59.
GRCh37:
ChrX:70352272
GRCh38:
ChrX:71132422
MED12not specifiedLikely benign
(Oct 20, 2016)
criteria provided, single submitter
60.
GRCh37:
ChrX:70352345
GRCh38:
ChrX:71132495
MED12not specifiedUncertain significance
(Dec 29, 2014)
criteria provided, single submitter
61.
GRCh37:
ChrX:70352650-70352679
GRCh38:
ChrX:71132800-71132829
MED12not specifiedBenign
(Apr 23, 2015)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
ChrX:70352655-70352679
GRCh38:
ChrX:71132805-71132829
MED12not specifiedBenign
(Apr 24, 2015)
criteria provided, single submitter
63.
GRCh37:
ChrX:70352675-70352679
GRCh38:
ChrX:71132825-71132829
MED12not specifiedBenign
(May 1, 2015)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
ChrX:70352749
GRCh38:
ChrX:71132899
MED12not specifiedLikely benign
(Jul 26, 2016)
criteria provided, single submitter
65.
GRCh37:
ChrX:70352954
GRCh38:
ChrX:71133104
MED12not specifiedLikely benign
(Jun 16, 2016)
criteria provided, single submitter
66.
GRCh37:
ChrX:70354254
GRCh38:
ChrX:71134404
MED12not specifiedLikely benign
(Dec 30, 2015)
criteria provided, single submitter
67.
GRCh37:
ChrX:70354666
GRCh38:
ChrX:71134816
MED12not providedLikely pathogenic
(Dec 13, 2016)
criteria provided, single submitter
68.
GRCh37:
ChrX:70354686
GRCh38:
ChrX:71134836
MED12not specifiedLikely benign
(Apr 21, 2016)
criteria provided, single submitter
69.
GRCh37:
ChrX:70355028
GRCh38:
ChrX:71135178
MED12not specifiedLikely benign
(Aug 17, 2016)
criteria provided, single submitter
70.
GRCh37:
ChrX:70355052
GRCh38:
ChrX:71135202
MED12not specifiedLikely benign
(May 10, 2016)
criteria provided, single submitter
71.
GRCh37:
ChrX:70356119
GRCh38:
ChrX:71136269
MED12not specifiedLikely benign
(Sep 28, 2015)
criteria provided, single submitter
72.
GRCh37:
ChrX:70356230
GRCh38:
ChrX:71136380
MED12not providedPathogenic
(Feb 26, 2016)
criteria provided, single submitter
73.
GRCh37:
ChrX:70356295
GRCh38:
ChrX:71136445
MED12not specifiedLikely benign
(Jun 27, 2016)
criteria provided, single submitter
74.
GRCh37:
ChrX:70356511
GRCh38:
ChrX:71136661
MED12not specifiedGMAF:0.00160(T)
GO-ESP:0.00074(T)
Conflicting interpretations of pathogenicity
(Dec 9, 2014)
criteria provided, conflicting interpretations
75.
GRCh37:
ChrX:70356838
GRCh38:
ChrX:71136988
MED12not specifiedGO-ESP:0.00007(C)Likely benign
(Sep 9, 2014)
criteria provided, single submitter
76.
GRCh37:
ChrX:70356863
GRCh38:
ChrX:71137013
MED12not specified, Cardiovascular phenotypeGO-ESP:0.00080(T)
GMAF:0.02230(T)
Benign/Likely benign
(Nov 25, 2014)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
ChrX:70357135
GRCh38:
ChrX:71137285
MED12FG syndrome, not specified, not provided,
Cardiovascular phenotype
GO-ESP:0.00681(A)
GMAF:0.00720(A)
GO-ESP:0.00211(A)
Benign/Likely benign, not provided
(Mar 27, 2016)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
ChrX:70357144
GRCh38:
ChrX:71137294
MED12not specifiedLikely benign
(Jun 6, 2016)
criteria provided, single submitter
79.
GRCh37:
ChrX:70357196
GRCh38:
ChrX:71137346
MED12not specified, not provided, Cardiovascular phenotype
GO-ESP:0.00143(T)
GMAF:0.00030(T)
GO-ESP:0.00106(T)
Likely benign
(Jan 20, 2017)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
ChrX:70357249
GRCh38:
ChrX:71137399
MED12not specifiedGMAF:0.00030(T)
GO-ESP:0.00132(T)
Benign
(Oct 1, 2014)
criteria provided, single submitter
81.
GRCh37:
ChrX:70357434
GRCh38:
ChrX:71137584
MED12not specifiedLikely benign
(Dec 16, 2016)
criteria provided, single submitter
82.
GRCh37:
ChrX:70357464
GRCh38:
ChrX:71137614
MED12not specifiedLikely benign
(Dec 5, 2016)
criteria provided, single submitter
83.
GRCh37:
ChrX:70357809
GRCh38:
ChrX:71137959
MED12not specifiedLikely benign
(Jul 25, 2016)
criteria provided, single submitter
84.
GRCh37:
ChrX:70360512
GRCh38:
ChrX:71140662
MED12not specifiedLikely benign
(Jan 15, 2016)
criteria provided, single submitter
85.
GRCh37:
ChrX:70360537
GRCh38:
ChrX:71140687
MED12not specifiedGMAF:0.00030(G)
GO-ESP:0.00005(G)
Uncertain significance
(Apr 27, 2015)
criteria provided, single submitter
86.
GRCh37:
ChrX:70360579
GRCh38:
ChrX:71140729
MED12not specifiedGO-ESP:0.00007(G)Uncertain significance
(Dec 19, 2016)
criteria provided, single submitter
87.
GRCh37:
ChrX:70360602-70360607
GRCh38:
ChrX:71140752-71140757
MED12not specifiedLikely benign
(Mar 3, 2015)
criteria provided, single submitter
88.
GRCh37:
ChrX:70360663-70360668
GRCh38:
ChrX:71140813-71140818
MED12not specifiedLikely benign
(Jul 28, 2016)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
ChrX:70360675
GRCh38:
ChrX:71140825
MED12not specifiedGO-ESP:0.00024(G)Uncertain significance
(Sep 19, 2016)
criteria provided, single submitter
90.
GRCh37:
ChrX:70360696-70360698
GRCh38:
ChrX:71140846-71140848
MED12not specifiedUncertain significance
(Nov 18, 2014)
criteria provided, single submitter
91.
GRCh37:
ChrX:70360727
GRCh38:
ChrX:71140877
MED12not specifiedLikely benign
(Dec 21, 2016)
criteria provided, single submitter
92.
GRCh37:
ChrX:70361160-70361171
GRCh38:
ChrX:71141310-71141321
MED12FG syndrome, not specifiedBenign/Likely benign
(Mar 22, 2016)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
ChrX:70361236
GRCh38:
ChrX:71141386
MED12not specifiedLikely benign
(Apr 15, 2016)
criteria provided, single submitter
94.
GRCh37:
ChrX:70361719
GRCh38:
ChrX:71141869
MED12not specifiedLikely benign
(Feb 29, 2016)
criteria provided, single submitter
95.
GRCh37:
ChrX:71267-155246643
ABCB7, AGTR2, NR0B1, ALAS2, ABCD1, AMELX, SLC25A5, XIAP, SHROOM2, AR, ARAF, ARHGAP4, ARHGAP6, ARR3, STS, ARSD, ARSE, ARSF, ATP2B3, ATP6AP1, ATP7A, ATRX, AVPR2, BGN, BMX, BRS3, BTK, CACNA1F, S100G, CAPN6, CD40LG, CDR1, CDX4, CETN2, CHM, CLCN4, CLCN5, CLIC2, CNGA2, COL4A5, COL4A6, COX7B, CSTF2, CTAG1B, TEX28, CYBB, CYLC1, DCX, DDX3X, TIMM8A, DIAPH2, DKC1, DLG3, DMD, DNASE1L1, DRP2, TSC22D3, DUSP9, EDA, EFNB1, EIF1AX, EIF2S3, ELF4, ELK1, EMD, F8, F9, ACSL4, FANCB, GPC4, FGD1, FGF13, FHL1, VEGFD, FLNA, FMR1, AFF2, CENPI, G6PD, GAGE1, GABRA3, GABRE, GAGE2C, GATA1, OPN1MW, GDI1, GJB1, GK, GLA, GPC3, GLRA2, GLUD2, GPM6B, CXCR3, LPAR4, GPR34, GRIA3, GRPR, GUCY2F, HSD17B10, HCCS, HCFC1, HMGB3, HNRNPH2, HPRT1, ERAS, HTR2C, IDH3G, IDS, IGBP1, IGSF1, IL2RG, IL13RA1, IL13RA2, IRAK1, ANOS1, KCND1, L1CAM, LAMP2, PRICKLE3, SH2D1A, MAGEA1, MAGEA2, MAGEA3, MAGEA4, MAGEA5, MAGEA6, MAGEA8, MAGEA9, MAGEA10, MAGEA11, MAGEA12, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MAOA, MAOB, MCF2, MECP2, MID1, FOXO4, MPP1, CITED1, MSN, MTCP1, MTM1, MYCLP1, NAP1L2, NAP1L3, NDP, NDUFA1, NHS, NONO, GPR143, TBC1D25, OCRL, OPHN1, OTC, P2RY4, PAK3, CDK16, PDHA1, PDK3, CFP, PFKFB1, PGK1, PHEX, PHKA1, PHKA2, PIGA, PIN4, PLP1, PLP2, PLS3, PLXNB3, POLA1, POU3F4, PPEF1, PRKX, PRPS1, PRPS2, PRRG1, PSMD10, RBBP7, RBM3, OPN1LW, RENBP, RP2, RPGR, RPL10, RPL39, RPL36A, RPS4X, RPS6KA3, RS1, SAT1, SCML1, TRAPPC2, SH3BGRL, SLC6A8, SLC16A2, SMARCA1, SMS, SOX3, SSR4, SSX1, SSX2, SSX5, SSX4, CDKL5, SUV39H1, SYN1, SYP, TAF1, TAZ, SERPINA7, TBL1X, DYNLT3, TFE3, TIMP1, TSPAN7, TSPAN6, TMSB4X, TRO, TRPC5, UBA1, UBE2A, SLC35A2, KDM6A, VBP1, WAS, XG, XIST, XK, XPNPEP2, ZFX, ZIC3, ZNF711, ZNF182, ZNF41, ZNF75D, ZNF157, RNF113A, ZNF185, ZXDA, PUDP, PNPLA4, ZRSR2, USP11, USP9X, RBM10, KDM5C, SMC1A, NAA10, F8A1, UBL4A, TMEM187, LAGE3, SLC10A3, TKTL1, SRPX, UXT, CUL4B, IRS4, OGT, OFD1, IKBKG, PIR, INE2, INE1, CASK, PAGE1, MTMR1, FGF16, AKAP4, APLN, AP1S2, GYG2, FAM127A, SLC25A14, CLDN2, RGN, FAM50A, AIFM1, TMEM257, REPS2, ZMYM3, BMP15, GPR50, MED14, TCEAL1, RAB33A, RAB9A, TSIX, ITM2A, ARHGEF6, PCYT1B, MAGED1, XAGE2, PAGE4, MORF4L2, GPRASP1, STARD8, FRMPD4, JADE3, ARMCX2, HEPH, MAGEC1, AMMECR1, MED12, ZBTB33, HDAC6, MAMLD1, HUWE1, PQBP1, BCAP31, ADGRG2, ATP6AP2, TENM1, SSX3, TIMM17B, RRAGB, SCML2, SLC9A6, ENOX2, PRDX4, EBP, STAG2, RAI2, PLAC1, CYSLTR1, UTP14A, ZNF275, PGRMC1, MAGED2, MSL3, TMSB15A, PIM2, MID2, IL1RAPL1, WDR45, TREX2, PRAF2, CA5B, SLC6A14, KLF8, VSIG4, CNKSR2, IQSEC2, PHF8, SEPT6, ARHGEF9, ATP1B4, ACOT9, KCNE5, LDOC1, SMPX, GSPT2, KIF4A, FTSJ1, HYPM, MXRA5, EGFL6, FAM127B, IL1RAPL2, ITGB1BP2, SRPK3, VCX, GAGE12I, GAGE2E, BEX3, NOX1, FAM155B, INGX, GPR82, GPKOW, SRPX2, APEX2, RBMX, PCDH11X, RPS6KA6, P2RY10, HTATSF1, PCSK1N, CCDC22, MCTS1, MAGEH1, FAM156A, C1GALT1C1, SNX12, RPA4, PNMA3, UBQLN2, SH3KBP1, SPANXA1, CTAG2, NSDHL, FOXP3, TBX22, ZDHHC9, RLIM, TCEAL9, RAB9B, LUZP4, PDZD11, PBDC1, TFDP3, TLR7, ARMCX1, TLR8, MBTPS2, MAGEC2, VGLL1, VCX2, VCX3A, ARMCX3, TAF9B, RBMX2, STK26, CPXCR1, CHIC1, FTHL17, GPR173, NLGN3, SASH3, TAF7L, SPIN2A, ARMCX6, WDR44, NDUFB11, GNL3L, ERCC6L, NUP62CL, GDPD2, BCOR, TBC1D8B, FAM120C, GEMIN8, CT55, TMEM255A, CXorf57, NUDT11, TMLHE, RBM41, SAGE1, PLXNA3, HAUS7, OTUD5, ZNF280C, MTMR8, KRBOX4, TXLNG, MBNL3, WWC3, BEX1, HDAC8, GABRQ, ZC4H2, NXT2, NKRF, NXF5, NXF4, NXF3, NXF2, KLHL4, TEX13B, TEX13A, TEX11, MOSPD1, BEX4, CTPS2, CHST7, TCEAL7, GRIPAP1, THOC2, ZNF630, TMEM27, SHROOM4, KIAA1210, NLGN4X, PCDH19, RGAG1, PDZD4, LRCH2, MAGEE1, RAP2C, MID1IP1, ACE2, TMEM35A, FAM3A, EDA2R, NYX, BCORL1, DUSP21, CXorf56, DMRTC1, TSPYL2, TNMD, PJA1, SPANXD, SPANXC, WDR13, PORCN, ARMCX5, UPF3B, WNK3, FUNDC2, PRRG3, APOO, BRCC3, HMGN5, NKAP, RNF128, MAP7D3, MORC4, CXorf36, LONRF3, ALG13, MAGIX, TCEAL4, TRMT2B, POF1B, CXorf21, EFHC2, KLHL15, ESX1, BHLHB9, MAGED4B, LAS1L, GPR101, TMEM47, CD99L2, H2AFB3, USP26, MAGT1, TMEM164, PHF6, FRMPD3, ZMAT1, RHOXF2, TMEM185A, SLITRK2, GPR174, SLC9A7, BEX2, SLC7A3, PNMA6A, TCEAL3, CCNB3, PPP1R3F, FATE1, CCDC120, TSR2, HS6ST2, FRMD7, KLHL13, TGIF2LX, FAM104B, PAGE5, TCEAL8, CHRDL1, CXorf40A, FAM58A, RIPPLY1, ATXN3L, SLC38A5, MMGT1, GCNA, SYAP1, SYTL4, SYTL5, PNMA5, GPRASP2, ATG4A, RAB39B, DACH2, SLITRK4, SPANXN3, MAGEC3, BEND2, PASD1, DCAF12L1, DGKK, PIH1D3, MUM1L1, FAM199X, AMER1, APOOL, HDX, FUNDC1, ADGRG4, PTCHD1, MAGEB10, DCAF8L1, OTUD6A, UPRT, MAGEE2, MAGEB16, FOXR2, GAB3, PNCK, ZFP92, ACTRT1, GPR119, PAGE3, RBMXL3, DOCK11, SPIN4, ASB11, ASB9, TCEAL2, PABPC5, RAB40A, ASB12, AMOT, ZNF645, CSAG1, FMR1NB, FAAH2, ZXDB, FAM47A, MOSPD2, ARHGAP36, RIBC1, AKAP14, RHOXF1, MAGEB6, CXorf65, AWAT1, AWAT2, ZDHHC15, USP51, TCEAL6, H2BFWT, CXorf38, FAM122B, FAM122C, DDX53, FAM46D, SPIN3, FAM47B, CXorf22, SUPT20HL2, TCEANC, ZCCHC12, ARX, XAGE3, XAGE5, NUDT10, FAM9A, FAM9B, FAM9C, CT83, LINC01560, SLC25A43, ZCCHC5, NRK, INTS6L, ZNF449, VMA21, TMEM31, PAGE2, CTAG1A, BRWD3, CXorf58, CT47A11, CXorf23, MAP7D2, KLHL34, TAB3, MAGEA2B, SSX6, SSX7, SSX8, SSX9, RAB40AL, ATP11C, H2BFM, YIPF6, CFAP47, FAM133A, MAGEB18, TMSB15B, RGAG4, NHSL2, PABPC1L2A, KIAA2022, BEX5, TCEAL5, VSIG1, ZC3H12B, SATL1, DCAF12L2, ZCCHC16, LHFPL1, ZNF81, ITIH6, LANCL3, MPC1L, DCAF8L2, SOWAHD, OR13H1, CCDC160, CXorf66, DGAT2L6, RAB41, ARSH, MAGEB5, MAP3K15, SPACA5, USP27X, PAGE2B, ZCCHC13, UBE2NL, CSAG3, GLOD5, ARL13A, SLC25A53, XKRX, YY2, MIRLET7F2, MIR105-1, MIR105-2, MIR106A, MIR19B2, MIR221, MIR222, MIR223, MIR224, MIR98, VCX3B, FTH1P18, GLRA4, FAM127C, CT45A3, CT45A5, SPANXN4, PGAM4, FAM47C, SPIN2B, H2AFB2, H2AFB1, F8A2, F8A3, SPANXN1, SPANXN2, SPANXN5, MIR424, CT45A6, CT45A1, CXorf40B, SSX4B, JPX, MIR448, MIR502, MIR503, MIR506, MIR508, MIR509-1, MIR510, ZNF674, DANT2, CT47B1, ZCCHC18, SMIM10, GAGE2B, GAGE13, GAGE12G, CXorf30, MAGEB17, PABPC1L2B, PNMA6E, XAGE1E, XAGE1B, CT47A7, SNORA11, MIR532, SSX2B, FAM156B, RHOXF2B, CT47A10, CT47A9, CT47A8, CT47A6, CT47A5, CT47A4, CT47A3, CT47A2, CT47A1, MAGED4, MAGEA9B, NXF2B, OPN1MW2, DMRTC1B, SPANXB1, SPANXA2, CT45A2, SPACA5B, GAGE12J, GAGE2D, GAGE12C, GAGE12B, GAGE12E, GAGE12H, GAGE2A, GAGE12F, GAGE8, FMR1-AS1, MIR509-3, WASIR1, ARMCX3-AS1, GPR50-AS1, CXorf51A, HSFX2, SUPT20HL1, CXorf49, PRR32, ARMCX4, GAGE12D, SMIM9, CXorf49B, CXorf51B, CMC4, FTX, TRPC5OS, MTRNR2L10, HSFX1, ARSD-AS1, CT47A12, LOC100509091, ARMCX5-GPRASP2, RPL36A-HNRNPH2, TCP11X2
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
96.
GRCh37:
ChrX:60701-155246271
ABCB7, AGTR2, NR0B1, ALAS2, ABCD1, AMELX, SLC25A5, XIAP, SHROOM2, AR, ARAF, ARHGAP4, ARHGAP6, ARR3, STS, ARSD, ARSE, ARSF, ATP2B3, ATP6AP1, ATP7A, ATRX, AVPR2, BGN, BMX, BRS3, BTK, CACNA1F, S100G, CAPN6, CD40LG, CDR1, CDX4, CETN2, CHM, CLCN4, CLCN5, CLIC2, CNGA2, COL4A5, COL4A6, COX7B, CSTF2, CTAG1B, TEX28, CYBB, CYLC1, DCX, DDX3X, TIMM8A, DIAPH2, DKC1, DLG3, DMD, DNASE1L1, DRP2, TSC22D3, DUSP9, EDA, EFNB1, EIF1AX, EIF2S3, ELF4, ELK1, EMD, F8, F9, ACSL4, FANCB, GPC4, FGD1, FGF13, FHL1, VEGFD, FLNA, FMR1, AFF2, CENPI, G6PD, GAGE1, GABRA3, GABRE, GAGE2C, GATA1, OPN1MW, GDI1, GJB1, GK, GLA, GPC3, GLRA2, GLUD2, GPM6B, CXCR3, LPAR4, GPR34, GRIA3, GRPR, GUCY2F, HSD17B10, HCCS, HCFC1, HMGB3, HNRNPH2, HPRT1, ERAS, HTR2C, IDH3G, IDS, IGBP1, IGSF1, IL2RG, IL13RA1, IL13RA2, IRAK1, ANOS1, KCND1, L1CAM, LAMP2, PRICKLE3, SH2D1A, MAGEA1, MAGEA2, MAGEA3, MAGEA4, MAGEA5, MAGEA6, MAGEA8, MAGEA9, MAGEA10, MAGEA11, MAGEA12, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MAOA, MAOB, MCF2, MECP2, MID1, FOXO4, MPP1, CITED1, MSN, MTCP1, MTM1, MYCLP1, NAP1L2, NAP1L3, NDP, NDUFA1, NHS, NONO, GPR143, TBC1D25, OCRL, OPHN1, OTC, P2RY4, PAK3, CDK16, PDHA1, PDK3, CFP, PFKFB1, PGK1, PHEX, PHKA1, PHKA2, PIGA, PIN4, PLP1, PLP2, PLS3, PLXNB3, POLA1, POU3F4, PPEF1, PRKX, PRPS1, PRPS2, PRRG1, PSMD10, RBBP7, RBM3, OPN1LW, RENBP, RP2, RPGR, RPL10, RPL39, RPL36A, RPS4X, RPS6KA3, RS1, SAT1, SCML1, TRAPPC2, SH3BGRL, SLC6A8, SLC16A2, SMARCA1, SMS, SOX3, SSR4, SSX1, SSX2, SSX5, SSX4, CDKL5, SUV39H1, SYN1, SYP, TAF1, TAZ, SERPINA7, TBL1X, DYNLT3, TFE3, TIMP1, TSPAN7, TSPAN6, TMSB4X, TRO, TRPC5, UBA1, UBE2A, SLC35A2, KDM6A, VBP1, WAS, XG, XIST, XK, XPNPEP2, ZFX, ZIC3, ZNF711, ZNF182, ZNF41, ZNF75D, ZNF157, RNF113A, ZNF185, ZXDA, PUDP, PNPLA4, ZRSR2, USP11, USP9X, RBM10, KDM5C, SMC1A, NAA10, F8A1, UBL4A, TMEM187, LAGE3, SLC10A3, TKTL1, SRPX, UXT, CUL4B, IRS4, OGT, OFD1, IKBKG, PIR, INE2, INE1, CASK, PAGE1, MTMR1, FGF16, AKAP4, APLN, AP1S2, GYG2, FAM127A, SLC25A14, CLDN2, RGN, FAM50A, AIFM1, TMEM257, REPS2, ZMYM3, BMP15, GPR50, MED14, TCEAL1, RAB33A, RAB9A, TSIX, ITM2A, ARHGEF6, PCYT1B, MAGED1, XAGE2, PAGE4, MORF4L2, GPRASP1, STARD8, FRMPD4, JADE3, ARMCX2, HEPH, MAGEC1, AMMECR1, MED12, ZBTB33, HDAC6, MAMLD1, HUWE1, PQBP1, BCAP31, ADGRG2, ATP6AP2, TENM1, SSX3, TIMM17B, RRAGB, SCML2, SLC9A6, ENOX2, PRDX4, EBP, STAG2, RAI2, PLAC1, CYSLTR1, UTP14A, ZNF275, PGRMC1, MAGED2, MSL3, TMSB15A, PIM2, MID2, IL1RAPL1, WDR45, TREX2, PRAF2, CA5B, SLC6A14, KLF8, VSIG4, CNKSR2, IQSEC2, PHF8, SEPT6, ARHGEF9, ATP1B4, ACOT9, KCNE5, LDOC1, SMPX, GSPT2, KIF4A, FTSJ1, HYPM, MXRA5, EGFL6, FAM127B, IL1RAPL2, ITGB1BP2, SRPK3, VCX, GAGE12I, GAGE2E, BEX3, NOX1, FAM155B, INGX, GPR82, GPKOW, SRPX2, APEX2, RBMX, PCDH11X, RPS6KA6, P2RY10, HTATSF1, PCSK1N, CCDC22, MCTS1, MAGEH1, FAM156A, C1GALT1C1, SNX12, RPA4, PNMA3, UBQLN2, SH3KBP1, SPANXA1, CTAG2, NSDHL, FOXP3, TBX22, ZDHHC9, RLIM, TCEAL9, RAB9B, LUZP4, PDZD11, PBDC1, TFDP3, TLR7, ARMCX1, TLR8, MBTPS2, MAGEC2, VGLL1, VCX2, VCX3A, ARMCX3, TAF9B, RBMX2, STK26, CPXCR1, CHIC1, FTHL17, GPR173, NLGN3, SASH3, TAF7L, SPIN2A, ARMCX6, WDR44, NDUFB11, GNL3L, ERCC6L, NUP62CL, GDPD2, BCOR, TBC1D8B, FAM120C, GEMIN8, CT55, TMEM255A, CXorf57, NUDT11, TMLHE, RBM41, SAGE1, PLXNA3, HAUS7, OTUD5, ZNF280C, MTMR8, KRBOX4, TXLNG, MBNL3, WWC3, BEX1, HDAC8, GABRQ, ZC4H2, NXT2, NKRF, NXF5, NXF4, NXF3, NXF2, KLHL4, TEX13B, TEX13A, TEX11, MOSPD1, BEX4, CTPS2, CHST7, TCEAL7, GRIPAP1, THOC2, ZNF630, TMEM27, SHROOM4, KIAA1210, NLGN4X, PCDH19, RGAG1, PDZD4, LRCH2, MAGEE1, RAP2C, MID1IP1, ACE2, TMEM35A, FAM3A, EDA2R, NYX, BCORL1, DUSP21, CXorf56, DMRTC1, TSPYL2, TNMD, PJA1, SPANXD, SPANXC, WDR13, PORCN, ARMCX5, UPF3B, WNK3, FUNDC2, PRRG3, APOO, BRCC3, HMGN5, NKAP, RNF128, MAP7D3, MORC4, CXorf36, LONRF3, ALG13, MAGIX, TCEAL4, TRMT2B, POF1B, CXorf21, EFHC2, KLHL15, ESX1, BHLHB9, MAGED4B, LAS1L, GPR101, TMEM47, CD99L2, H2AFB3, USP26, MAGT1, TMEM164, PHF6, FRMPD3, ZMAT1, RHOXF2, TMEM185A, SLITRK2, GPR174, SLC9A7, BEX2, SLC7A3, PNMA6A, TCEAL3, CCNB3, PPP1R3F, FATE1, CCDC120, TSR2, HS6ST2, FRMD7, KLHL13, TGIF2LX, FAM104B, PAGE5, TCEAL8, CHRDL1, CXorf40A, FAM58A, RIPPLY1, ATXN3L, SLC38A5, MMGT1, GCNA, SYAP1, SYTL4, SYTL5, PNMA5, GPRASP2, ATG4A, RAB39B, DACH2, SLITRK4, SPANXN3, MAGEC3, BEND2, PASD1, DCAF12L1, DGKK, PIH1D3, MUM1L1, FAM199X, AMER1, APOOL, HDX, FUNDC1, ADGRG4, PTCHD1, MAGEB10, DCAF8L1, OTUD6A, UPRT, MAGEE2, MAGEB16, FOXR2, GAB3, PNCK, ZFP92, ACTRT1, GPR119, PAGE3, RBMXL3, DOCK11, SPIN4, ASB11, ASB9, TCEAL2, PABPC5, RAB40A, ASB12, AMOT, ZNF645, CSAG1, FMR1NB, FAAH2, ZXDB, FAM47A, MOSPD2, ARHGAP36, RIBC1, AKAP14, RHOXF1, MAGEB6, CXorf65, AWAT1, AWAT2, ZDHHC15, USP51, TCEAL6, H2BFWT, CXorf38, FAM122B, FAM122C, DDX53, FAM46D, SPIN3, FAM47B, CXorf22, SUPT20HL2, TCEANC, ZCCHC12, ARX, XAGE3, XAGE5, NUDT10, FAM9A, FAM9B, FAM9C, CT83, LINC01560, SLC25A43, ZCCHC5, NRK, INTS6L, ZNF449, VMA21, TMEM31, PAGE2, CTAG1A, BRWD3, CXorf58, CT47A11, CXorf23, MAP7D2, KLHL34, TAB3, MAGEA2B, SSX6, SSX7, SSX8, SSX9, RAB40AL, ATP11C, H2BFM, YIPF6, CFAP47, FAM133A, MAGEB18, TMSB15B, RGAG4, NHSL2, PABPC1L2A, KIAA2022, BEX5, TCEAL5, VSIG1, ZC3H12B, SATL1, DCAF12L2, ZCCHC16, LHFPL1, ZNF81, ITIH6, LANCL3, MPC1L, DCAF8L2, SOWAHD, OR13H1, CCDC160, CXorf66, DGAT2L6, RAB41, ARSH, MAGEB5, MAP3K15, SPACA5, USP27X, PAGE2B, ZCCHC13, UBE2NL, CSAG3, GLOD5, ARL13A, SLC25A53, XKRX, YY2, MIRLET7F2, MIR105-1, MIR105-2, MIR106A, MIR19B2, MIR221, MIR222, MIR223, MIR224, MIR98, VCX3B, FTH1P18, GLRA4, FAM127C, CT45A3, CT45A5, SPANXN4, PGAM4, FAM47C, SPIN2B, H2AFB2, H2AFB1, F8A2, F8A3, SPANXN1, SPANXN2, SPANXN5, MIR424, CT45A6, CT45A1, CXorf40B, SSX4B, JPX, MIR448, MIR502, MIR503, MIR506, MIR508, MIR509-1, MIR510, ZNF674, DANT2, CT47B1, ZCCHC18, SMIM10, GAGE2B, GAGE13, GAGE12G, CXorf30, MAGEB17, PABPC1L2B, PNMA6E, XAGE1E, XAGE1B, CT47A7, SNORA11, MIR532, SSX2B, FAM156B, RHOXF2B, CT47A10, CT47A9, CT47A8, CT47A6, CT47A5, CT47A4, CT47A3, CT47A2, CT47A1, MAGED4, MAGEA9B, NXF2B, OPN1MW2, DMRTC1B, SPANXB1, SPANXA2, CT45A2, SPACA5B, GAGE12J, GAGE2D, GAGE12C, GAGE12B, GAGE12E, GAGE12H, GAGE2A, GAGE12F, GAGE8, FMR1-AS1, MIR509-3, WASIR1, ARMCX3-AS1, GPR50-AS1, CXorf51A, HSFX2, SUPT20HL1, CXorf49, PRR32, ARMCX4, GAGE12D, SMIM9, CXorf49B, CXorf51B, CMC4, FTX, TRPC5OS, MTRNR2L10, HSFX1, ARSD-AS1, CT47A12, LOC100509091, ARMCX5-GPRASP2, RPL36A-HNRNPH2, TCP11X2
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
97.
GRCh37:
ChrX:62063537-155246643
ABCB7, AGTR2, ABCD1, SLC25A5, XIAP, AR, ARHGAP4, ARR3, ATP2B3, ATP6AP1, ATP7A, ATRX, AVPR2, BGN, BRS3, BTK, CAPN6, CD40LG, CDR1, CDX4, CETN2, CHM, CLIC2, CNGA2, COL4A5, COL4A6, COX7B, CSTF2, CTAG1B, TEX28, CYLC1, DCX, TIMM8A, DIAPH2, DKC1, DLG3, DNASE1L1, DRP2, TSC22D3, DUSP9, EDA, EFNB1, ELF4, EMD, F8, F9, ACSL4, GPC4, FGF13, FHL1, FLNA, FMR1, AFF2, CENPI, G6PD, GABRA3, GABRE, OPN1MW, GDI1, GJB1, GLA, GPC3, GLUD2, CXCR3, LPAR4, GRIA3, GUCY2F, HCFC1, HMGB3, HNRNPH2, HPRT1, HTR2C, IDH3G, IDS, IGBP1, IGSF1, IL2RG, IL13RA1, IL13RA2, IRAK1, L1CAM, LAMP2, SH2D1A, MAGEA1, MAGEA2, MAGEA3, MAGEA4, MAGEA5, MAGEA6, MAGEA8, MAGEA9, MAGEA10, MAGEA11, MAGEA12, MCF2, MECP2, FOXO4, MPP1, CITED1, MSN, MTCP1, MTM1, MYCLP1, NAP1L2, NAP1L3, NDUFA1, NONO, OCRL, OPHN1, P2RY4, PAK3, PGK1, PHKA1, PIN4, PLP1, PLS3, PLXNB3, POU3F4, PRPS1, PSMD10, OPN1LW, RENBP, RPL10, RPL39, RPL36A, RPS4X, SH3BGRL, SLC6A8, SLC16A2, SMARCA1, SOX3, SSR4, TAF1, TAZ, SERPINA7, TSPAN6, TRPC5, UBE2A, VBP1, XIST, XPNPEP2, ZIC3, ZNF711, ZNF75D, RNF113A, ZNF185, NAA10, F8A1, UBL4A, TMEM187, LAGE3, SLC10A3, TKTL1, CUL4B, IRS4, OGT, IKBKG, MTMR1, FGF16, APLN, FAM127A, SLC25A14, CLDN2, FAM50A, AIFM1, TMEM257, ZMYM3, GPR50, TCEAL1, RAB33A, TSIX, ITM2A, ARHGEF6, MORF4L2, GPRASP1, STARD8, ARMCX2, HEPH, MAGEC1, AMMECR1, MED12, ZBTB33, MAMLD1, BCAP31, TENM1, SLC9A6, ENOX2, STAG2, PLAC1, CYSLTR1, UTP14A, ZNF275, PGRMC1, TMSB15A, MID2, TREX2, SLC6A14, VSIG4, SEPT6, ARHGEF9, ATP1B4, KCNE5, LDOC1, KIF4A, FAM127B, IL1RAPL2, ITGB1BP2, SRPK3, BEX3, NOX1, FAM155B, INGX, SRPX2, RBMX, PCDH11X, RPS6KA6, P2RY10, HTATSF1, MCTS1, C1GALT1C1, SNX12, RPA4, PNMA3, SPANXA1, CTAG2, NSDHL, TBX22, ZDHHC9, RLIM, TCEAL9, RAB9B, LUZP4, PDZD11, PBDC1, TFDP3, ARMCX1, MAGEC2, VGLL1, ARMCX3, TAF9B, RBMX2, STK26, CPXCR1, CHIC1, NLGN3, SASH3, TAF7L, ARMCX6, WDR44, ERCC6L, NUP62CL, GDPD2, TBC1D8B, CT55, TMEM255A, CXorf57, TMLHE, RBM41, SAGE1, PLXNA3, HAUS7, ZNF280C, MTMR8, MBNL3, BEX1, HDAC8, GABRQ, ZC4H2, NXT2, NKRF, NXF5, NXF4, NXF3, NXF2, KLHL4, TEX13B, TEX13A, TEX11, MOSPD1, BEX4, TCEAL7, THOC2, KIAA1210, PCDH19, RGAG1, PDZD4, LRCH2, MAGEE1, RAP2C, TMEM35A, FAM3A, EDA2R, BCORL1, CXorf56, DMRTC1, TNMD, PJA1, SPANXD, SPANXC, ARMCX5, UPF3B, FUNDC2, PRRG3, BRCC3, HMGN5, NKAP, RNF128, MAP7D3, MORC4, LONRF3, ALG13, TCEAL4, TRMT2B, POF1B, ESX1, BHLHB9, LAS1L, GPR101, CD99L2, H2AFB3, USP26, MAGT1, TMEM164, PHF6, FRMPD3, ZMAT1, RHOXF2, TMEM185A, SLITRK2, GPR174, BEX2, SLC7A3, PNMA6A, TCEAL3, FATE1, HS6ST2, FRMD7, KLHL13, TGIF2LX, TCEAL8, CHRDL1, CXorf40A, FAM58A, RIPPLY1, MMGT1, GCNA, SYTL4, PNMA5, GPRASP2, ATG4A, RAB39B, DACH2, SLITRK4, SPANXN3, MAGEC3, PASD1, DCAF12L1, PIH1D3, MUM1L1, FAM199X, AMER1, APOOL, HDX, ADGRG4, OTUD6A, UPRT, MAGEE2, GAB3, PNCK, ZFP92, ACTRT1, GPR119, RBMXL3, DOCK11, SPIN4, TCEAL2, PABPC5, RAB40A, ASB12, AMOT, CSAG1, FMR1NB, ARHGAP36, AKAP14, RHOXF1, CXorf65, AWAT1, AWAT2, ZDHHC15, TCEAL6, H2BFWT, FAM122B, FAM122C, FAM46D, ZCCHC12, CT83, SLC25A43, ZCCHC5, NRK, INTS6L, ZNF449, VMA21, TMEM31, CTAG1A, BRWD3, CT47A11, MAGEA2B, RAB40AL, ATP11C, H2BFM, YIPF6, FAM133A, TMSB15B, RGAG4, NHSL2, PABPC1L2A, KIAA2022, BEX5, TCEAL5, VSIG1, ZC3H12B, SATL1, DCAF12L2, ZCCHC16, LHFPL1, SOWAHD, OR13H1, CCDC160, CXorf66, DGAT2L6, RAB41, ZCCHC13, UBE2NL, CSAG3, ARL13A, SLC25A53, XKRX, MIR105-1, MIR105-2, MIR106A, MIR19B2, MIR223, MIR224, GLRA4, FAM127C, CT45A3, CT45A5, SPANXN4, PGAM4, H2AFB2, H2AFB1, F8A2, F8A3, SPANXN1, SPANXN2, MIR424, CT45A6, CT45A1, CXorf40B, JPX, MIR448, MIR503, MIR506, MIR508, MIR509-1, MIR510, DANT2, CT47B1, ZCCHC18, SMIM10, PABPC1L2B, PNMA6E, CT47A7, RHOXF2B, CT47A10, CT47A9, CT47A8, CT47A6, CT47A5, CT47A4, CT47A3, CT47A2, CT47A1, MAGEA9B, NXF2B, OPN1MW2, DMRTC1B, SPANXB1, SPANXA2, CT45A2, FMR1-AS1, MIR509-3, WASIR1, ARMCX3-AS1, GPR50-AS1, CXorf51A, HSFX2, CXorf49, PRR32, ARMCX4, SMIM9, CXorf49B, CXorf51B, CMC4, FTX, TRPC5OS, HSFX1, CT47A12, LOC100509091, ARMCX5-GPRASP2, RPL36A-HNRNPH2, TCP11X2
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
98.
GRCh37:
ChrX:13147668-155250222
ABCB7, AGTR2, NR0B1, ALAS2, ABCD1, SLC25A5, XIAP, AR, ARAF, ARHGAP4, ARR3, ATP2B3, ATP6AP1, ATP7A, ATRX, AVPR2, BGN, BMX, BRS3, BTK, CACNA1F, S100G, CAPN6, CD40LG, CDR1, CDX4, CETN2, CHM, CLCN5, CLIC2, CNGA2, COL4A5, COL4A6, COX7B, CSTF2, CTAG1B, TEX28, CYBB, CYLC1, DCX, DDX3X, TIMM8A, DIAPH2, DKC1, DLG3, DMD, DNASE1L1, DRP2, TSC22D3, DUSP9, EDA, EFNB1, EIF1AX, EIF2S3, ELF4, ELK1, EMD, F8, F9, ACSL4, FANCB, GPC4, FGD1, FGF13, FHL1, VEGFD, FLNA, FMR1, AFF2, CENPI, G6PD, GAGE1, GABRA3, GABRE, GAGE2C, GATA1, OPN1MW, GDI1, GJB1, GK, GLA, GPC3, GLRA2, GLUD2, GPM6B, CXCR3, LPAR4, GPR34, GRIA3, GRPR, GUCY2F, HSD17B10, HCFC1, HMGB3, HNRNPH2, HPRT1, ERAS, HTR2C, IDH3G, IDS, IGBP1, IGSF1, IL2RG, IL13RA1, IL13RA2, IRAK1, KCND1, L1CAM, LAMP2, PRICKLE3, SH2D1A, MAGEA1, MAGEA2, MAGEA3, MAGEA4, MAGEA5, MAGEA6, MAGEA8, MAGEA9, MAGEA10, MAGEA11, MAGEA12, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MAOA, MAOB, MCF2, MECP2, FOXO4, MPP1, CITED1, MSN, MTCP1, MTM1, MYCLP1, NAP1L2, NAP1L3, NDP, NDUFA1, NHS, NONO, TBC1D25, OCRL, OPHN1, OTC, P2RY4, PAK3, CDK16, PDHA1, PDK3, CFP, PFKFB1, PGK1, PHEX, PHKA1, PHKA2, PIGA, PIN4, PLP1, PLP2, PLS3, PLXNB3, POLA1, POU3F4, PPEF1, PRPS1, PRRG1, PSMD10, RBBP7, RBM3, OPN1LW, RENBP, RP2, RPGR, RPL10, RPL39, RPL36A, RPS4X, RPS6KA3, RS1, SAT1, SCML1, TRAPPC2, SH3BGRL, SLC6A8, SLC16A2, SMARCA1, SMS, SOX3, SSR4, SSX1, SSX2, SSX5, SSX4, CDKL5, SUV39H1, SYN1, SYP, TAF1, TAZ, SERPINA7, DYNLT3, TFE3, TIMP1, TSPAN7, TSPAN6, TRO, TRPC5, UBA1, UBE2A, SLC35A2, KDM6A, VBP1, WAS, XIST, XK, XPNPEP2, ZFX, ZIC3, ZNF711, ZNF182, ZNF41, ZNF75D, ZNF157, RNF113A, ZNF185, ZXDA, ZRSR2, USP11, USP9X, RBM10, KDM5C, SMC1A, NAA10, F8A1, UBL4A, TMEM187, LAGE3, SLC10A3, TKTL1, SRPX, UXT, CUL4B, IRS4, OGT, OFD1, IKBKG, PIR, INE2, INE1, CASK, PAGE1, MTMR1, FGF16, AKAP4, APLN, AP1S2, FAM127A, SLC25A14, CLDN2, RGN, FAM50A, AIFM1, TMEM257, REPS2, ZMYM3, BMP15, GPR50, MED14, TCEAL1, RAB33A, RAB9A, TSIX, ITM2A, ARHGEF6, PCYT1B, MAGED1, XAGE2, PAGE4, MORF4L2, GPRASP1, STARD8, JADE3, ARMCX2, HEPH, MAGEC1, AMMECR1, MED12, ZBTB33, HDAC6, MAMLD1, HUWE1, PQBP1, BCAP31, ADGRG2, ATP6AP2, TENM1, SSX3, TIMM17B, RRAGB, SCML2, SLC9A6, ENOX2, PRDX4, EBP, STAG2, RAI2, PLAC1, CYSLTR1, UTP14A, ZNF275, PGRMC1, MAGED2, TMSB15A, PIM2, MID2, IL1RAPL1, WDR45, TREX2, PRAF2, CA5B, SLC6A14, KLF8, VSIG4, CNKSR2, IQSEC2, PHF8, SEPT6, ARHGEF9, ATP1B4, ACOT9, KCNE5, LDOC1, SMPX, GSPT2, KIF4A, FTSJ1, HYPM, EGFL6, FAM127B, IL1RAPL2, ITGB1BP2, SRPK3, GAGE12I, GAGE2E, BEX3, NOX1, FAM155B, INGX, GPR82, GPKOW, SRPX2, APEX2, RBMX, PCDH11X, RPS6KA6, P2RY10, HTATSF1, PCSK1N, CCDC22, MCTS1, MAGEH1, FAM156A, C1GALT1C1, SNX12, RPA4, PNMA3, UBQLN2, SH3KBP1, SPANXA1, CTAG2, NSDHL, FOXP3, TBX22, ZDHHC9, RLIM, TCEAL9, RAB9B, LUZP4, PDZD11, PBDC1, TFDP3, ARMCX1, MBTPS2, MAGEC2, VGLL1, ARMCX3, TAF9B, RBMX2, STK26, CPXCR1, CHIC1, FTHL17, GPR173, NLGN3, SASH3, TAF7L, SPIN2A, ARMCX6, WDR44, NDUFB11, GNL3L, ERCC6L, NUP62CL, GDPD2, BCOR, TBC1D8B, FAM120C, GEMIN8, CT55, TMEM255A, CXorf57, NUDT11, TMLHE, RBM41, SAGE1, PLXNA3, HAUS7, OTUD5, ZNF280C, MTMR8, KRBOX4, TXLNG, MBNL3, BEX1, HDAC8, GABRQ, ZC4H2, NXT2, NKRF, NXF5, NXF4, NXF3, NXF2, KLHL4, TEX13B, TEX13A, TEX11, MOSPD1, BEX4, CTPS2, CHST7, TCEAL7, GRIPAP1, THOC2, ZNF630, TMEM27, SHROOM4, KIAA1210, PCDH19, RGAG1, PDZD4, LRCH2, MAGEE1, RAP2C, MID1IP1, ACE2, TMEM35A, FAM3A, EDA2R, NYX, BCORL1, DUSP21, CXorf56, DMRTC1, TSPYL2, TNMD, PJA1, SPANXD, SPANXC, WDR13, PORCN, ARMCX5, UPF3B, WNK3, FUNDC2, PRRG3, APOO, BRCC3, HMGN5, NKAP, RNF128, MAP7D3, MORC4, CXorf36, LONRF3, ALG13, MAGIX, TCEAL4, TRMT2B, POF1B, CXorf21, EFHC2, KLHL15, ESX1, BHLHB9, MAGED4B, LAS1L, GPR101, TMEM47, CD99L2, H2AFB3, USP26, MAGT1, TMEM164, PHF6, FRMPD3, ZMAT1, RHOXF2, TMEM185A, SLITRK2, GPR174, SLC9A7, BEX2, SLC7A3, PNMA6A, TCEAL3, CCNB3, PPP1R3F, FATE1, CCDC120, TSR2, HS6ST2, FRMD7, KLHL13, TGIF2LX, FAM104B, PAGE5, TCEAL8, CHRDL1, CXorf40A, FAM58A, RIPPLY1, ATXN3L, SLC38A5, MMGT1, GCNA, SYAP1, SYTL4, SYTL5, PNMA5, GPRASP2, ATG4A, RAB39B, DACH2, SLITRK4, SPANXN3, MAGEC3, BEND2, PASD1, DCAF12L1, DGKK, PIH1D3, MUM1L1, FAM199X, AMER1, APOOL, HDX, FUNDC1, ADGRG4, PTCHD1, MAGEB10, DCAF8L1, OTUD6A, UPRT, MAGEE2, MAGEB16, FOXR2, GAB3, PNCK, ZFP92, ACTRT1, GPR119, PAGE3, RBMXL3, DOCK11, SPIN4, ASB11, ASB9, TCEAL2, PABPC5, RAB40A, ASB12, AMOT, ZNF645, CSAG1, FMR1NB, FAAH2, ZXDB, FAM47A, MOSPD2, ARHGAP36, RIBC1, AKAP14, RHOXF1, MAGEB6, CXorf65, AWAT1, AWAT2, ZDHHC15, USP51, TCEAL6, H2BFWT, CXorf38, FAM122B, FAM122C, DDX53, FAM46D, SPIN3, FAM47B, CXorf22, SUPT20HL2, TCEANC, ZCCHC12, ARX, XAGE3, XAGE5, NUDT10, CT83, LINC01560, SLC25A43, ZCCHC5, NRK, INTS6L, ZNF449, VMA21, TMEM31, PAGE2, CTAG1A, BRWD3, CXorf58, CT47A11, CXorf23, MAP7D2, KLHL34, TAB3, MAGEA2B, SSX6, SSX7, SSX8, SSX9, RAB40AL, ATP11C, H2BFM, YIPF6, CFAP47, FAM133A, MAGEB18, TMSB15B, RGAG4, NHSL2, PABPC1L2A, KIAA2022, BEX5, TCEAL5, VSIG1, ZC3H12B, SATL1, DCAF12L2, ZCCHC16, LHFPL1, ZNF81, ITIH6, LANCL3, MPC1L, DCAF8L2, SOWAHD, OR13H1, CCDC160, CXorf66, DGAT2L6, RAB41, MAGEB5, MAP3K15, SPACA5, USP27X, PAGE2B, ZCCHC13, UBE2NL, CSAG3, GLOD5, ARL13A, SLC25A53, XKRX, YY2, MIRLET7F2, MIR105-1, MIR105-2, MIR106A, MIR19B2, MIR221, MIR222, MIR223, MIR224, MIR98, FTH1P18, GLRA4, FAM127C, CT45A3, CT45A5, SPANXN4, PGAM4, FAM47C, SPIN2B, H2AFB2, H2AFB1, F8A2, F8A3, SPANXN1, SPANXN2, SPANXN5, MIR424, CT45A6, CT45A1, CXorf40B, SSX4B, JPX, MIR448, MIR502, MIR503, MIR506, MIR508, MIR509-1, MIR510, ZNF674, DANT2, CT47B1, ZCCHC18, SMIM10, GAGE2B, GAGE13, GAGE12G, CXorf30, MAGEB17, PABPC1L2B, PNMA6E, XAGE1E, XAGE1B, CT47A7, SNORA11, MIR532, SSX2B, FAM156B, RHOXF2B, CT47A10, CT47A9, CT47A8, CT47A6, CT47A5, CT47A4, CT47A3, CT47A2, CT47A1, MAGED4, MAGEA9B, NXF2B, OPN1MW2, DMRTC1B, SPANXB1, SPANXA2, CT45A2, SPACA5B, GAGE12J, GAGE2D, GAGE12C, GAGE12B, GAGE12E, GAGE12H, GAGE2A, GAGE12F, GAGE8, FMR1-AS1, MIR509-3, WASIR1, ARMCX3-AS1, GPR50-AS1, CXorf51A, HSFX2, SUPT20HL1, CXorf49, PRR32, ARMCX4, GAGE12D, SMIM9, CXorf49B, CXorf51B, CMC4, FTX, TRPC5OS, MTRNR2L10, HSFX1, CT47A12, LOC100509091, ARMCX5-GPRASP2, RPL36A-HNRNPH2, TCP11X2
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
99.
GRCh37:
ChrX:176426-155236656
ABCB7, AGTR2, NR0B1, ALAS2, ABCD1, AMELX, SLC25A5, XIAP, SHROOM2, AR, ARAF, ARHGAP4, ARHGAP6, ARR3, STS, ARSD, ARSE, ARSF, ATP2B3, ATP6AP1, ATP7A, ATRX, AVPR2, BGN, BMX, BRS3, BTK, CACNA1F, S100G, CAPN6, CD40LG, CDR1, CDX4, CETN2, CHM, CLCN4, CLCN5, CLIC2, CNGA2, COL4A5, COL4A6, COX7B, CSTF2, CTAG1B, TEX28, CYBB, CYLC1, DCX, DDX3X, TIMM8A, DIAPH2, DKC1, DLG3, DMD, DNASE1L1, DRP2, TSC22D3, DUSP9, EDA, EFNB1, EIF1AX, EIF2S3, ELF4, ELK1, EMD, F8, F9, ACSL4, FANCB, GPC4, FGD1, FGF13, FHL1, VEGFD, FLNA, FMR1, AFF2, CENPI, G6PD, GAGE1, GABRA3, GABRE, GAGE2C, GATA1, OPN1MW, GDI1, GJB1, GK, GLA, GPC3, GLRA2, GLUD2, GPM6B, CXCR3, LPAR4, GPR34, GRIA3, GRPR, GUCY2F, HSD17B10, HCCS, HCFC1, HMGB3, HNRNPH2, HPRT1, ERAS, HTR2C, IDH3G, IDS, IGBP1, IGSF1, IL2RG, IL13RA1, IL13RA2, IRAK1, ANOS1, KCND1, L1CAM, LAMP2, PRICKLE3, SH2D1A, MAGEA1, MAGEA2, MAGEA3, MAGEA4, MAGEA5, MAGEA6, MAGEA8, MAGEA9, MAGEA10, MAGEA11, MAGEA12, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MAOA, MAOB, MCF2, MECP2, MID1, FOXO4, MPP1, CITED1, MSN, MTCP1, MTM1, MYCLP1, NAP1L2, NAP1L3, NDP, NDUFA1, NHS, NONO, GPR143, TBC1D25, OCRL, OPHN1, OTC, P2RY4, PAK3, CDK16, PDHA1, PDK3, CFP, PFKFB1, PGK1, PHEX, PHKA1, PHKA2, PIGA, PIN4, PLP1, PLP2, PLS3, PLXNB3, POLA1, POU3F4, PPEF1, PRKX, PRPS1, PRPS2, PRRG1, PSMD10, RBBP7, RBM3, OPN1LW, RENBP, RP2, RPGR, RPL10, RPL39, RPL36A, RPS4X, RPS6KA3, RS1, SAT1, SCML1, TRAPPC2, SH3BGRL, SLC6A8, SLC16A2, SMARCA1, SMS, SOX3, SSR4, SSX1, SSX2, SSX5, SSX4, CDKL5, SUV39H1, SYN1, SYP, TAF1, TAZ, SERPINA7, TBL1X, DYNLT3, TFE3, TIMP1, TSPAN7, TSPAN6, TMSB4X, TRO, TRPC5, UBA1, UBE2A, SLC35A2, KDM6A, VBP1, WAS, XG, XIST, XK, XPNPEP2, ZFX, ZIC3, ZNF711, ZNF182, ZNF41, ZNF75D, ZNF157, RNF113A, ZNF185, ZXDA, PUDP, PNPLA4, ZRSR2, USP11, USP9X, RBM10, KDM5C, SMC1A, NAA10, F8A1, UBL4A, TMEM187, LAGE3, SLC10A3, TKTL1, SRPX, UXT, CUL4B, IRS4, OGT, OFD1, IKBKG, PIR, INE2, INE1, CASK, PAGE1, MTMR1, FGF16, AKAP4, APLN, AP1S2, GYG2, FAM127A, SLC25A14, CLDN2, RGN, FAM50A, AIFM1, TMEM257, REPS2, ZMYM3, BMP15, GPR50, MED14, TCEAL1, RAB33A, RAB9A, TSIX, ITM2A, ARHGEF6, PCYT1B, MAGED1, XAGE2, PAGE4, MORF4L2, GPRASP1, STARD8, FRMPD4, JADE3, ARMCX2, HEPH, MAGEC1, AMMECR1, MED12, ZBTB33, HDAC6, MAMLD1, HUWE1, PQBP1, BCAP31, ADGRG2, ATP6AP2, TENM1, SSX3, TIMM17B, RRAGB, SCML2, SLC9A6, ENOX2, PRDX4, EBP, STAG2, RAI2, PLAC1, CYSLTR1, UTP14A, ZNF275, PGRMC1, MAGED2, MSL3, TMSB15A, PIM2, MID2, IL1RAPL1, WDR45, TREX2, PRAF2, CA5B, SLC6A14, KLF8, VSIG4, CNKSR2, IQSEC2, PHF8, SEPT6, ARHGEF9, ATP1B4, ACOT9, KCNE5, LDOC1, SMPX, GSPT2, KIF4A, FTSJ1, HYPM, MXRA5, EGFL6, FAM127B, IL1RAPL2, ITGB1BP2, SRPK3, VCX, GAGE12I, GAGE2E, BEX3, NOX1, FAM155B, INGX, GPR82, GPKOW, SRPX2, APEX2, RBMX, PCDH11X, RPS6KA6, P2RY10, HTATSF1, PCSK1N, CCDC22, MCTS1, MAGEH1, FAM156A, C1GALT1C1, SNX12, RPA4, PNMA3, UBQLN2, SH3KBP1, SPANXA1, CTAG2, NSDHL, FOXP3, TBX22, ZDHHC9, RLIM, TCEAL9, RAB9B, LUZP4, PDZD11, PBDC1, TFDP3, TLR7, ARMCX1, TLR8, MBTPS2, MAGEC2, VGLL1, VCX2, VCX3A, ARMCX3, TAF9B, RBMX2, STK26, CPXCR1, CHIC1, FTHL17, GPR173, NLGN3, SASH3, TAF7L, SPIN2A, ARMCX6, WDR44, NDUFB11, GNL3L, ERCC6L, NUP62CL, GDPD2, BCOR, TBC1D8B, FAM120C, GEMIN8, CT55, TMEM255A, CXorf57, NUDT11, TMLHE, RBM41, SAGE1, PLXNA3, HAUS7, OTUD5, ZNF280C, MTMR8, KRBOX4, TXLNG, MBNL3, WWC3, BEX1, HDAC8, GABRQ, ZC4H2, NXT2, NKRF, NXF5, NXF4, NXF3, NXF2, KLHL4, TEX13B, TEX13A, TEX11, MOSPD1, BEX4, CTPS2, CHST7, TCEAL7, GRIPAP1, THOC2, ZNF630, TMEM27, SHROOM4, KIAA1210, NLGN4X, PCDH19, RGAG1, PDZD4, LRCH2, MAGEE1, RAP2C, MID1IP1, ACE2, TMEM35A, FAM3A, EDA2R, NYX, BCORL1, DUSP21, CXorf56, DMRTC1, TSPYL2, TNMD, PJA1, SPANXD, SPANXC, WDR13, PORCN, ARMCX5, UPF3B, WNK3, FUNDC2, PRRG3, APOO, BRCC3, HMGN5, NKAP, RNF128, MAP7D3, MORC4, CXorf36, LONRF3, ALG13, MAGIX, TCEAL4, TRMT2B, POF1B, CXorf21, EFHC2, KLHL15, ESX1, BHLHB9, MAGED4B, LAS1L, GPR101, TMEM47, CD99L2, H2AFB3, USP26, MAGT1, TMEM164, PHF6, FRMPD3, ZMAT1, RHOXF2, TMEM185A, SLITRK2, GPR174, SLC9A7, BEX2, SLC7A3, PNMA6A, TCEAL3, CCNB3, PPP1R3F, FATE1, CCDC120, TSR2, HS6ST2, FRMD7, KLHL13, TGIF2LX, FAM104B, PAGE5, TCEAL8, CHRDL1, CXorf40A, FAM58A, RIPPLY1, ATXN3L, SLC38A5, MMGT1, GCNA, SYAP1, SYTL4, SYTL5, PNMA5, GPRASP2, ATG4A, RAB39B, DACH2, SLITRK4, SPANXN3, MAGEC3, BEND2, PASD1, DCAF12L1, DGKK, PIH1D3, MUM1L1, FAM199X, AMER1, APOOL, HDX, FUNDC1, ADGRG4, PTCHD1, MAGEB10, DCAF8L1, OTUD6A, UPRT, MAGEE2, MAGEB16, FOXR2, GAB3, PNCK, ZFP92, ACTRT1, GPR119, PAGE3, RBMXL3, DOCK11, SPIN4, ASB11, ASB9, TCEAL2, PABPC5, RAB40A, ASB12, AMOT, ZNF645, CSAG1, FMR1NB, FAAH2, ZXDB, FAM47A, MOSPD2, ARHGAP36, RIBC1, AKAP14, RHOXF1, MAGEB6, CXorf65, AWAT1, AWAT2, ZDHHC15, USP51, TCEAL6, H2BFWT, CXorf38, FAM122B, FAM122C, DDX53, FAM46D, SPIN3, FAM47B, CXorf22, SUPT20HL2, TCEANC, ZCCHC12, ARX, XAGE3, XAGE5, NUDT10, FAM9A, FAM9B, FAM9C, CT83, LINC01560, SLC25A43, ZCCHC5, NRK, INTS6L, ZNF449, VMA21, TMEM31, PAGE2, CTAG1A, BRWD3, CXorf58, CT47A11, CXorf23, MAP7D2, KLHL34, TAB3, MAGEA2B, SSX6, SSX7, SSX8, SSX9, RAB40AL, ATP11C, H2BFM, YIPF6, CFAP47, FAM133A, MAGEB18, TMSB15B, RGAG4, NHSL2, PABPC1L2A, KIAA2022, BEX5, TCEAL5, VSIG1, ZC3H12B, SATL1, DCAF12L2, ZCCHC16, LHFPL1, ZNF81, ITIH6, LANCL3, MPC1L, DCAF8L2, SOWAHD, OR13H1, CCDC160, CXorf66, DGAT2L6, RAB41, ARSH, MAGEB5, MAP3K15, SPACA5, USP27X, PAGE2B, ZCCHC13, UBE2NL, CSAG3, GLOD5, ARL13A, SLC25A53, XKRX, YY2, MIRLET7F2, MIR105-1, MIR105-2, MIR106A, MIR19B2, MIR221, MIR222, MIR223, MIR224, MIR98, VCX3B, FTH1P18, GLRA4, FAM127C, CT45A3, CT45A5, SPANXN4, PGAM4, FAM47C, SPIN2B, H2AFB2, H2AFB1, F8A2, F8A3, SPANXN1, SPANXN2, SPANXN5, MIR424, CT45A6, CT45A1, CXorf40B, SSX4B, JPX, MIR448, MIR502, MIR503, MIR506, MIR508, MIR509-1, MIR510, ZNF674, DANT2, CT47B1, ZCCHC18, SMIM10, GAGE2B, GAGE13, GAGE12G, CXorf30, MAGEB17, PABPC1L2B, PNMA6E, XAGE1E, XAGE1B, CT47A7, SNORA11, MIR532, SSX2B, FAM156B, RHOXF2B, CT47A10, CT47A9, CT47A8, CT47A6, CT47A5, CT47A4, CT47A3, CT47A2, CT47A1, MAGED4, MAGEA9B, NXF2B, OPN1MW2, DMRTC1B, SPANXB1, SPANXA2, CT45A2, SPACA5B, GAGE12J, GAGE2D, GAGE12C, GAGE12B, GAGE12E, GAGE12H, GAGE2A, GAGE12F, GAGE8, FMR1-AS1, MIR509-3, ARMCX3-AS1, GPR50-AS1, CXorf51A, HSFX2, SUPT20HL1, CXorf49, PRR32, ARMCX4, GAGE12D, SMIM9, CXorf49B, CXorf51B, CMC4, FTX, TRPC5OS, MTRNR2L10, HSFX1, ARSD-AS1, CT47A12, LOC100509091, ARMCX5-GPRASP2, RPL36A-HNRNPH2, TCP11X2
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
100.
GRCh37:
ChrX:225816-155234036
ABCB7, AGTR2, NR0B1, ALAS2, ABCD1, AMELX, SLC25A5, XIAP, SHROOM2, AR, ARAF, ARHGAP4, ARHGAP6, ARR3, STS, ARSD, ARSE, ARSF, ATP2B3, ATP6AP1, ATP7A, ATRX, AVPR2, BGN, BMX, BRS3, BTK, CACNA1F, S100G, CAPN6, CD40LG, CDR1, CDX4, CETN2, CHM, CLCN4, CLCN5, CLIC2, CNGA2, COL4A5, COL4A6, COX7B, CSTF2, CTAG1B, TEX28, CYBB, CYLC1, DCX, DDX3X, TIMM8A, DIAPH2, DKC1, DLG3, DMD, DNASE1L1, DRP2, TSC22D3, DUSP9, EDA, EFNB1, EIF1AX, EIF2S3, ELF4, ELK1, EMD, F8, F9, ACSL4, FANCB, GPC4, FGD1, FGF13, FHL1, VEGFD, FLNA, FMR1, AFF2, CENPI, G6PD, GAGE1, GABRA3, GABRE, GAGE2C, GATA1, OPN1MW, GDI1, GJB1, GK, GLA, GPC3, GLRA2, GLUD2, GPM6B, CXCR3, LPAR4, GPR34, GRIA3, GRPR, GUCY2F, HSD17B10, HCCS, HCFC1, HMGB3, HNRNPH2, HPRT1, ERAS, HTR2C, IDH3G, IDS, IGBP1, IGSF1, IL2RG, IL13RA1, IL13RA2, IRAK1, ANOS1, KCND1, L1CAM, LAMP2, PRICKLE3, SH2D1A, MAGEA1, MAGEA2, MAGEA3, MAGEA4, MAGEA5, MAGEA6, MAGEA8, MAGEA9, MAGEA10, MAGEA11, MAGEA12, MAGEB1, MAGEB2, MAGEB3, MAGEB4, MAOA, MAOB, MCF2, MECP2, MID1, FOXO4, MPP1, CITED1, MSN, MTCP1, MTM1, MYCLP1, NAP1L2, NAP1L3, NDP, NDUFA1, NHS, NONO, GPR143, TBC1D25, OCRL, OPHN1, OTC, P2RY4, PAK3, CDK16, PDHA1, PDK3, CFP, PFKFB1, PGK1, PHEX, PHKA1, PHKA2, PIGA, PIN4, PLP1, PLP2, PLS3, PLXNB3, POLA1, POU3F4, PPEF1, PRKX, PRPS1, PRPS2, PRRG1, PSMD10, RBBP7, RBM3, OPN1LW, RENBP, RP2, RPGR, RPL10, RPL39, RPL36A, RPS4X, RPS6KA3, RS1, SAT1, SCML1, TRAPPC2, SH3BGRL, SLC6A8, SLC16A2, SMARCA1, SMS, SOX3, SSR4, SSX1, SSX2, SSX5, SSX4, CDKL5, SUV39H1, SYN1, SYP, TAF1, TAZ, SERPINA7, TBL1X, DYNLT3, TFE3, TIMP1, TSPAN7, TSPAN6, TMSB4X, TRO, TRPC5, UBA1, UBE2A, SLC35A2, KDM6A, VBP1, WAS, XG, XIST, XK, XPNPEP2, ZFX, ZIC3, ZNF711, ZNF182, ZNF41, ZNF75D, ZNF157, RNF113A, ZNF185, ZXDA, PUDP, PNPLA4, ZRSR2, USP11, USP9X, RBM10, KDM5C, SMC1A, NAA10, F8A1, UBL4A, TMEM187, LAGE3, SLC10A3, TKTL1, SRPX, UXT, CUL4B, IRS4, OGT, OFD1, IKBKG, PIR, INE2, INE1, CASK, PAGE1, MTMR1, FGF16, AKAP4, APLN, AP1S2, GYG2, FAM127A, SLC25A14, CLDN2, RGN, FAM50A, AIFM1, TMEM257, REPS2, ZMYM3, BMP15, GPR50, MED14, TCEAL1, RAB33A, RAB9A, TSIX, ITM2A, ARHGEF6, PCYT1B, MAGED1, XAGE2, PAGE4, MORF4L2, GPRASP1, STARD8, FRMPD4, JADE3, ARMCX2, HEPH, MAGEC1, AMMECR1, MED12, ZBTB33, HDAC6, MAMLD1, HUWE1, PQBP1, BCAP31, ADGRG2, ATP6AP2, TENM1, SSX3, TIMM17B, RRAGB, SCML2, SLC9A6, ENOX2, PRDX4, EBP, STAG2, RAI2, PLAC1, CYSLTR1, UTP14A, ZNF275, PGRMC1, MAGED2, MSL3, TMSB15A, PIM2, MID2, IL1RAPL1, WDR45, TREX2, PRAF2, CA5B, SLC6A14, KLF8, VSIG4, CNKSR2, IQSEC2, PHF8, SEPT6, ARHGEF9, ATP1B4, ACOT9, KCNE5, LDOC1, SMPX, GSPT2, KIF4A, FTSJ1, HYPM, MXRA5, EGFL6, FAM127B, IL1RAPL2, ITGB1BP2, SRPK3, VCX, GAGE12I, GAGE2E, BEX3, NOX1, FAM155B, INGX, GPR82, GPKOW, SRPX2, APEX2, RBMX, PCDH11X, RPS6KA6, P2RY10, HTATSF1, PCSK1N, CCDC22, MCTS1, MAGEH1, FAM156A, C1GALT1C1, SNX12, RPA4, PNMA3, UBQLN2, SH3KBP1, SPANXA1, CTAG2, NSDHL, FOXP3, TBX22, ZDHHC9, RLIM, TCEAL9, RAB9B, LUZP4, PDZD11, PBDC1, TFDP3, TLR7, ARMCX1, TLR8, MBTPS2, MAGEC2, VGLL1, VCX2, VCX3A, ARMCX3, TAF9B, RBMX2, STK26, CPXCR1, CHIC1, FTHL17, GPR173, NLGN3, SASH3, TAF7L, SPIN2A, ARMCX6, WDR44, NDUFB11, GNL3L, ERCC6L, NUP62CL, GDPD2, BCOR, TBC1D8B, FAM120C, GEMIN8, CT55, TMEM255A, CXorf57, NUDT11, TMLHE, RBM41, SAGE1, PLXNA3, HAUS7, OTUD5, ZNF280C, MTMR8, KRBOX4, TXLNG, MBNL3, WWC3, BEX1, HDAC8, GABRQ, ZC4H2, NXT2, NKRF, NXF5, NXF4, NXF3, NXF2, KLHL4, TEX13B, TEX13A, TEX11, MOSPD1, BEX4, CTPS2, CHST7, TCEAL7, GRIPAP1, THOC2, ZNF630, TMEM27, SHROOM4, KIAA1210, NLGN4X, PCDH19, RGAG1, PDZD4, LRCH2, MAGEE1, RAP2C, MID1IP1, ACE2, TMEM35A, FAM3A, EDA2R, NYX, BCORL1, DUSP21, CXorf56, DMRTC1, TSPYL2, TNMD, PJA1, SPANXD, SPANXC, WDR13, PORCN, ARMCX5, UPF3B, WNK3, FUNDC2, PRRG3, APOO, BRCC3, HMGN5, NKAP, RNF128, MAP7D3, MORC4, CXorf36, LONRF3, ALG13, MAGIX, TCEAL4, TRMT2B, POF1B, CXorf21, EFHC2, KLHL15, ESX1, BHLHB9, MAGED4B, LAS1L, GPR101, TMEM47, CD99L2, H2AFB3, USP26, MAGT1, TMEM164, PHF6, FRMPD3, ZMAT1, RHOXF2, TMEM185A, SLITRK2, GPR174, SLC9A7, BEX2, SLC7A3, PNMA6A, TCEAL3, CCNB3, PPP1R3F, FATE1, CCDC120, TSR2, HS6ST2, FRMD7, KLHL13, TGIF2LX, FAM104B, PAGE5, TCEAL8, CHRDL1, CXorf40A, FAM58A, RIPPLY1, ATXN3L, SLC38A5, MMGT1, GCNA, SYAP1, SYTL4, SYTL5, PNMA5, GPRASP2, ATG4A, RAB39B, DACH2, SLITRK4, SPANXN3, MAGEC3, BEND2, PASD1, DCAF12L1, DGKK, PIH1D3, MUM1L1, FAM199X, AMER1, APOOL, HDX, FUNDC1, ADGRG4, PTCHD1, MAGEB10, DCAF8L1, OTUD6A, UPRT, MAGEE2, MAGEB16, FOXR2, GAB3, PNCK, ZFP92, ACTRT1, GPR119, PAGE3, RBMXL3, DOCK11, SPIN4, ASB11, ASB9, TCEAL2, PABPC5, RAB40A, ASB12, AMOT, ZNF645, CSAG1, FMR1NB, FAAH2, ZXDB, FAM47A, MOSPD2, ARHGAP36, RIBC1, AKAP14, RHOXF1, MAGEB6, CXorf65, AWAT1, AWAT2, ZDHHC15, USP51, TCEAL6, H2BFWT, CXorf38, FAM122B, FAM122C, DDX53, FAM46D, SPIN3, FAM47B, CXorf22, SUPT20HL2, TCEANC, ZCCHC12, ARX, XAGE3, XAGE5, NUDT10, FAM9A, FAM9B, FAM9C, CT83, LINC01560, SLC25A43, ZCCHC5, NRK, INTS6L, ZNF449, VMA21, TMEM31, PAGE2, CTAG1A, BRWD3, CXorf58, CT47A11, CXorf23, MAP7D2, KLHL34, TAB3, MAGEA2B, SSX6, SSX7, SSX8, SSX9, RAB40AL, ATP11C, H2BFM, YIPF6, CFAP47, FAM133A, MAGEB18, TMSB15B, RGAG4, NHSL2, PABPC1L2A, KIAA2022, BEX5, TCEAL5, VSIG1, ZC3H12B, SATL1, DCAF12L2, ZCCHC16, LHFPL1, ZNF81, ITIH6, LANCL3, MPC1L, DCAF8L2, SOWAHD, OR13H1, CCDC160, CXorf66, DGAT2L6, RAB41, ARSH, MAGEB5, MAP3K15, SPACA5, USP27X, PAGE2B, ZCCHC13, UBE2NL, CSAG3, GLOD5, ARL13A, SLC25A53, XKRX, YY2, MIRLET7F2, MIR105-1, MIR105-2, MIR106A, MIR19B2, MIR221, MIR222, MIR223, MIR224, MIR98, VCX3B, FTH1P18, GLRA4, FAM127C, CT45A3, CT45A5, SPANXN4, PGAM4, FAM47C, SPIN2B, H2AFB2, H2AFB1, F8A2, F8A3, SPANXN1, SPANXN2, SPANXN5, MIR424, CT45A6, CT45A1, CXorf40B, SSX4B, JPX, MIR448, MIR502, MIR503, MIR506, MIR508, MIR509-1, MIR510, ZNF674, DANT2, CT47B1, ZCCHC18, SMIM10, GAGE2B, GAGE13, GAGE12G, CXorf30, MAGEB17, PABPC1L2B, PNMA6E, XAGE1E, XAGE1B, CT47A7, SNORA11, MIR532, SSX2B, FAM156B, RHOXF2B, CT47A10, CT47A9, CT47A8, CT47A6, CT47A5, CT47A4, CT47A3, CT47A2, CT47A1, MAGED4, MAGEA9B, NXF2B, OPN1MW2, DMRTC1B, SPANXB1, SPANXA2, CT45A2, SPACA5B, GAGE12J, GAGE2D, GAGE12C, GAGE12B, GAGE12E, GAGE12H, GAGE2A, GAGE12F, GAGE8, FMR1-AS1, MIR509-3, ARMCX3-AS1, GPR50-AS1, CXorf51A, HSFX2, SUPT20HL1, CXorf49, PRR32, ARMCX4, GAGE12D, SMIM9, CXorf49B, CXorf51B, CMC4, FTX, TRPC5OS, MTRNR2L10, HSFX1, ARSD-AS1, CT47A12, LOC100509091, ARMCX5-GPRASP2, RPL36A-HNRNPH2, TCP11X2
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
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