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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
AC002365.1, AKAP17A, AKAP4, AR, ARHGAP4, ARHGAP6, ARMCX2, ARMCX4, ARR3, ARSD, ARSE, ARSF, ARSH, ASMTL, ATP11C, ATP2B3, ATP6AP1, ATP7A, ATRX, BCOR, BCORL1, BEX2, BGN, BRWD3, C1GALT1C1, CA5B, CCDC160, CD99, CITED1, COL4A6, CPXCR1, CT45A5, CXorf22, CXorf28, CXorf38, CXorf40A, CXorf64, CXorf65, CYSLTR1, DCAF8L2, DDX26B, DHRSX, DKC1, DMD, DNASE1L1, DOCK11, DRP2, DYNLT3, EBP, EDA2R, EIF2S3, FAAH2, FAM104B, FAM120C, FAM122B, FAM127B, FAM155B, FAM47A, FAM47C, FAM58A, FGF13, FOXR2, FRMD7, GABRE, GAGE12J, GDI1, GDPD2, GLRA4, GNL3L, GPC4, GPR112, GPR50, GPR82, GRIA3, GRIPAP1, GTPBP6, GUCY2F, GYG2, HAUS7, HCFC1, HDHD1, HEPH, HUWE1, IGSF1, IL3RA, IRAK1, IRS4, KAL1, KCNE1L, KIAA1210, KIF4A, KLHL4, KRBOX4, LAMP2, LCA10, LINC00632, LONRF3, MAGEA10, MAGEA12, MAGEA8, MAGEB10, MAGEB16, MAGEB2, MAGEB3, MAGEB4, MAGEC1, MAGEC3, MAGED2, MAGEH1, MAGIX, MAMLD1, MAOA, MAP3K15, MBTPS2, MCF2, MED12, MORC4, MPP1, MTMR1, MXRA5, NHSL2, NRK, NSDHL, NUDT11, NUP62CL, OR13H1, P2RY4, P2RY8, PAGE2, PAGE3, PIGA, PIN4, PLCXD1, PLXNA3, PLXNB3, PNMA3, PNMA5, POF1B, POU3F4, PPP2R3B, PRKX, PRPS2, PRRG3, PTCHD1, RAI2, RBBP7, RBM3, RBM41, RBMX, RBMXL3, RGAG4, RIBC1, RLIM, RP11-706O15.1, RPL10, RPS4X, SATL1, SLC16A2, SLC25A43, SLC25A5, SLC25A6, SLC9A7, SLITRK2, SOWAHD, SPANXN2, SPANXN5, SPRY3, SSX5, STARD8, SYTL4, TAB3, TAF1, TAF7L, TBC1D25, TCEAL4, TCEAL6, TCEANC, TEX11, TEX13A, TFE3, TGIF2LX, TIMP1, TLR7, TLR8, UBA1, UBE2NL, UBL4A, UPRT, USP26, VBP1, VCX, VCX2, VCX3A, WDR13, WWC3, XAGE3, XG, XKRX, ZBTB33, ZCCHC16, ZMAT1, ZNF630, ZNF75D, ZRSR2, ZXDA, ZXDB,

+ Genes associated with diseases 45

Genes at Omim

AR, ARR3, ARSE, ATP11C, ATP2B3, ATP6AP1, ATP7A, ATRX, BCOR, BGN, BRWD3, C1GALT1C1, COL4A6, DKC1, DMD, EBP, EIF2S3, FAM58A, FRMD7, GDI1, GRIA3, HCFC1, HUWE1, IGSF1, KAL1, KIF4A, LAMP2, MAGED2, MAMLD1, MAOA, MBTPS2, MED12, NSDHL, PIGA, POU3F4, PTCHD1, RBMX, RLIM, RPL10, SLC16A2, TAF1, TEX11, TFE3, UBA1, XG,

AR	Androgen insensitivity, 300068 (3) Androgen insensitivity, partial, with or without breast cancer, 312300 (3) Hypospadias 1, X-linked, 300633 (3) {Prostate cancer, susceptibility to}, 176807 (3) Spinal and bulbar muscular atrophy of Kennedy, 313200 (3)
ARR3	Myopia 26, X-linked, female-limited, 301010 (3)
ARSE	Chondrodysplasia punctata, X-linked recessive, 302950 (3)
ATP11C	?Hemolytic anemia, congenital, X-linked, 301015 (3)
ATP2B3	?Spinocerebellar ataxia, X-linked 1, 302500 (3)
ATP6AP1	Immunodeficiency 47, 300972 (3)
ATP7A	Menkes disease, 309400 (3) Occipital horn syndrome, 304150 (3) Spinal muscular atrophy, distal, X-linked 3, 300489 (3)
ATRX	Alpha-thalassemia myelodysplasia syndrome, somatic, 300448 (3) Alpha-thalassemia/mental retardation syndrome, 301040 (3) Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3)
BCOR	Microphthalmia, syndromic 2, 300166 (3)
BGN	Meester-Loeys syndrome, 300989 (3) Spondyloepimetaphyseal dysplasia, X-linked, 300106 (3)
BRWD3	Mental retardation, X-linked 93, 300659 (3)
C1GALT1C1	Tn polyagglutination syndrome, somatic, 300622 (3)
COL4A6	?Deafness, X-linked 6, 300914 (3)
DKC1	Dyskeratosis congenita, X-linked, 305000 (3)
DMD	Becker muscular dystrophy, 300376 (3) Cardiomyopathy, dilated, 3B, 302045 (3) Duchenne muscular dystrophy, 310200 (3)
EBP	Chondrodysplasia punctata, X-linked dominant, 302960 (3) MEND syndrome, 300960 (3)
EIF2S3	MEHMO syndrome, 300148 (3)
FAM58A	STAR syndrome, 300707 (3)
FRMD7	Nystagmus 1, congenital, X-linked, 310700 (3) Nystagmus, infantile periodic alternating, X-linked, 310700 (3)
GDI1	Mental retardation, X-linked 41, 300849 (3)
GRIA3	Mental retardation, X-linked 94, 300699 (3)
HCFC1	Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 (3)
HUWE1	Mental retardation, X-linked syndromic, Turner type, 300706 (3)
IGSF1	Hypothyroidism, central, and testicular enlargement, 300888 (3)
KAL1	Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), 308700 (3)
KIF4A	?Mental retardation, X-linked 100, 300923 (3)
LAMP2	Danon disease, 300257 (3)
MAGED2	Bartter syndrome, type 5, antenatal, transient, 300971 (3)
MAMLD1	Hypospadias 2, X-linked, 300758 (3)
MAOA	Brunner syndrome, 300615 (3) {Antisocial behavior}, 300615 (3)
MBTPS2	IFAP syndrome with or without BRESHECK syndrome, 308205 (3) Keratosis follicularis spinulosa decalvans, X-linked, 308800 (3) Osteogenesis imperfecta, type XIX, 301014 (3) ?Olmsted syndrome, X-linked, 300918 (3)
MED12	Lujan-Fryns syndrome, 309520 (3) Ohdo syndrome, X-linked, 300895 (3) Opitz-Kaveggia syndrome, 305450 (3)
NSDHL	CK syndrome, 300831 (3) CHILD syndrome, 308050 (3)
PIGA	Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 (3) Paroxysmal nocturnal hemoglobinuria, somatic, 300818 (3)
POU3F4	Deafness, X-linked 2, 304400 (3)
PTCHD1	{Autism, susceptibility to, X-linked 4}, 300830 (3)
RBMX	?Mental retardation, X-linked, syndromic 11, Shashi type, 300238 (3)
RLIM	Tonne-Kalscheuer syndrome, 300978 (3)
RPL10	Mental retardation, X-linked, syndromic, 35, 300998 (3) {Autism, susceptibility to, X-linked 5}, 300847 (3)
SLC16A2	Allan-Herndon-Dudley syndrome, 300523 (3)
TAF1	Dystonia-Parkinsonism, X-linked, 314250 (3) Mental retardation, X-linked, syndromic 33, 300966 (3)
TEX11	Spermatogenic failure, X-linked, 2, 309120 (3)
TFE3	Renal cell carcinoma, papillary, 1, 300854 (3)
UBA1	Spinal muscular atrophy, X-linked 2, infantile, 301830 (3)
XG	[Blood group, XG system] (3)

Genes at Clinical Genomics Database

AR, ARSE, ATP2B3, ATP7A, ATRX, BCOR, BRWD3, COL4A6, DKC1, DMD, EBP, FAM58A, FRMD7, GDI1, GRIA3, HCFC1, HUWE1, IGSF1, KIF4A, LAMP2, MAGED2, MAMLD1, MAOA, MBTPS2, MED12, NSDHL, PIGA, POF1B, POU3F4, PTCHD1, RBMX, SLC16A2, TAF1, TEX11, UBA1, XG,

AR	Androgen insensitivity Androgen insensitivity, partial
ARSE	Chondrodysplasia punctata 1, X-linked recessive
ATP2B3	Spinocerebellar ataxia, X-linked 1
ATP7A	Menkes disease
ATRX	Mental retardation-hypotonic facies syndrome, X-linked Juberg-Marsidi syndrome Carpenter-Waziri syndrome Holmes-Gang syndrome Smith-Fineman-Myers syndrome Alpha-thalassemia/mental retardation syndrome
BCOR	Microphthalmia, syndromic 2 Oculofaciocardiodental syndrome
BRWD3	Mental retardation, X-linked 93
COL4A6	Deafness, X-linked, with cochlear malformation
DKC1	Dyskeratosis congenita, X-linked Hoyeraal-Hreidarsson syndrome
DMD	Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy, dilated, 3B
EBP	Chondrodysplasia punctata 2, X-linked dominant Male EBP disorder with neurologic defects (MEND)
FAM58A	STAR syndrome Toe syndactyly, telecanthus, and anogenital and renal malformations
FRMD7	Nystagmus, infantile periodic alternating, X-linked
GDI1	Mental retardation, X-linked 41
GRIA3	Mental retardation, X-linked 94
HCFC1	Combined methylmalonic acidemia and hyperhomocysteinemia
HUWE1	Mental retardation, X-linked syndromic, Turner type
IGSF1	Central hypothyroidism and testicular enlargement
KIF4A	Mental retardation, X-linked 100
LAMP2	Danon disease
MAGED2	Bartter syndrome type 5, antenatal transient
MAMLD1	Hypospadias 2, X-linked
MAOA	Brunner syndrome
MBTPS2	Keratosis follicularis spinulosa decalvans, X-linked IFAP syndrome with or without BRESHECK syndrome Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked
MED12	Lujan-Fryns syndrome Opitz-Kaveggia syndrome Mental retardation, X-linked, with Marfanoid habitus FG syndrome Ohdo syndrome
NSDHL	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome) CK syndrome
PIGA	Multiple congenital anomalies-hypotonia-seizures syndrome 2
POF1B	Premature ovarian failure 2B
POU3F4	Deafness, X-linked 2
PTCHD1	Autism susceptibility, X-linked 4
RBMX	Mental retardation, X-linked, syndromic 11, Shashi type
SLC16A2	Allan-Herndon-Dudley syndrome
TAF1	Dystonia 3, torsion, X-linked Mental retardation, X-linked, syndromic 33
TEX11	Spermatogenic failure, X-linked 2
UBA1	Spinal muscular atrophy, X-linked 2, infantile
XG	XG blood group

Genes at HGMD

Summary

Number of Variants: 2218
Number of Genes: 206

Export to: CSV

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AC002365.1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	combined sample_61.variant23	X	rs5934731 dbSNP Clinvar	9935844	2487.4	C	T	PASS	1/1	68	SYNONYMOUS_CODING	LOW	None	0.51656	0.51660					None None	None None None None	None
	View	combined sample_61.variant23	X	rs5934730 dbSNP Clinvar	9935526	4172.22	G	T	PASS	1/1	134	SYNONYMOUS_CODING	LOW	None	0.42967	0.42970					None None	None None None None	None
AKAP17A
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	combined sample_61.variant23	X	rs6644621 dbSNP Clinvar	1713021	960.47	C	T	PASS	0/1	113	SYNONYMOUS_CODING	LOW	None	0.55931	0.55930	0.45884				None None	None None None None	AKAP17A\|0.002882858\|88.87%
	View	combined sample_61.variant23	X	rs58902273 dbSNP Clinvar	1718360	2089.98	G	A	PASS	0/1	138	None	None	None	0.49361	0.49360	0.43836	0.03	0.92		None None	None None None None	AKAP17A\|0.002882858\|88.87%
	View	combined sample_61.variant23	X	rs28661622 dbSNP Clinvar	1719897	3720.99	C	G	PASS	0/1	103	NON_SYNONYMOUS_CODING	MODERATE	None	0.53355	0.53350	0.48013	0.48	0.06		None None	None None None None	AKAP17A\|0.002882858\|88.87%
AKAP4
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	combined sample_61.variant23	X	rs148654052 dbSNP Clinvar	49957768	2728.13	C	T	PASS	1/1	90	SYNONYMOUS_CODING	LOW	None	0.00715	0.00715	0.00265				None None	None None None None	AKAP4\|0.058399148\|60.31%
AR
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	combined sample_61.variant23	X	.	66765158	827.65	TG...	TG...	PASS	5/5	10	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	AR\|0.999436019\|0.35%
ARHGAP4
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	combined sample_61.variant23	X	rs2070097 dbSNP Clinvar	153176254	1172.95	A	G	PASS	1/1	33	SYNONYMOUS_CODING	LOW	None	0.70490	0.70490	0.44202				None None	None None None None	ARHGAP4\|0.028368935\|70.27%
ARHGAP6
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	combined sample_61.variant23	X	rs1009758 dbSNP Clinvar	11157535	1963.46	G	C	PASS	1/1	66	NON_SYNONYMOUS_CODING	MODERATE	None	0.15656	0.15660	0.20941	0.37	0.00		None None	None None None None	ARHGAP6\|0.321783914\|26.02%
ARMCX2
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	combined sample_61.variant23	X	rs3850315 dbSNP Clinvar	100911066	2007.54	C	T	PASS	1/1	37	SYNONYMOUS_CODING	LOW	None	0.96689	0.96690	0.05737				None None	None None None None	ARMCX2\|0.023937868\|72.22%
ARMCX4
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	combined sample_61.variant23	X	rs5991911 dbSNP Clinvar	100748078	1843.79	A	G	PASS	1/1	66	NON_SYNONYMOUS_CODING	MODERATE	None	1.00000	1.00000		1.00	0.00		None None	None None None None	ARMCX4\|0.006015436\|84.57%
ARR3
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	combined sample_61.variant23	X	rs3818862 dbSNP Clinvar	69489530	1023.71	C	T	PASS	1/1	33	SYNONYMOUS_CODING	LOW	None	0.18887	0.18890	0.07981				None None	None None None None	ARR3\|0.071510607\|57.08%
ARSD