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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
AC002365.1, AFF2, AIFM1, AKAP17A, APOO, AR, ARL13A, ARMCX2, ARMCX4, ARR3, ARSD, ARSE, ARSF, ASMTL, ATP11C, ATP2B3, ATP6AP1, ATP7A, ATRX, AVPR2, BCOR, BCORL1, BEX2, BGN, BMP15, BRWD3, CCDC160, CD40LG, CD99, CHM, CITED1, COL4A6, CPXCR1, CSAG1, CSF2RA, CT47B1, CTAG2, CXorf21, CXorf24, CXorf38, CXorf40A, CXorf65, CXorf66, CYSLTR1, DCAF12L2, DCAF8L2, DHRSX, DKC1, DLG3, DMD, DNASE1L1, DRP2, EBP, EDA2R, EIF2S3, F8, FAAH2, FAM104B, FAM120C, FAM127B, FAM46D, FAM58A, FATE1, FGF13, FOXP3, FTHL17, G6PD, GABRE, GABRQ, GDPD2, GLRA4, GPR101, GPR174, GPR50, GPR82, GPRASP1, GRIA3, GRIPAP1, GSPT2, GTPBP6, GUCY2F, GYG2, H2BFM, H2BFWT, HCFC1, HDHD1, HEPH, HMGB3, HUWE1, IGSF1, IL13RA1, IL3RA, IRS4, KAL1, KIAA1210, KIF4A, KLHL13, KLHL4, LCA10, LHFPL1, LONRF3, MAGEA10, MAGEA11, MAGEA4, MAGEA8, MAGEB10, MAGEB2, MAGEB3, MAGEB4, MAGEC1, MAGEC3, MAGEE1, MAGIX, MAOA, MAP3K15, MAP7D3, MCF2, MED12, MORC4, MSL3, MTMR1, NHSL2, NOX1, NR0B1, NRK, NSDHL, NUDT11, NXF5, P2RY4, P2RY8, PAGE2, PASD1, PDHA1, PDZD4, PGRMC1, PIN4, PIR, PLCXD1, PLP1, PLXNA3, PNMA3, POF1B, POU3F4, PPEF1, PPP2R3B, PRKX, PRPS1, PRPS2, PRRG3, RAB40A, RAI2, RBBP7, RBM3, RBMX, RBMXL3, RGAG4, RLIM, RPL10, SAGE1, SATL1, SEPT6, SHROOM4, SLC25A43, SLC25A5, SLC9A6, SOWAHD, SPANXN5, SPRY3, SRPK3, SRPX, SSX5, STARD8, SYTL4, TAB3, TAF7L, TBC1D25, TCEAL4, TCEAL6, TCEANC, TENM1, TEX11, TEX13A, TFE3, TIMP1, TLR7, TLR8, TMEM185A, TMEM187, UBA1, UBL4A, UPRT, VBP1, VCX, VMA21, WDR13, WDR44, WWC3, XAGE5, XG, XIAP, ZBED1, ZMAT1, ZNF275, ZNF280C, ZNF630, ZNF75D, ZRSR2, ZXDA, ZXDB,

+ Genes associated with diseases 54

Genes at Omim

AFF2, AIFM1, AR, ARR3, ARSE, ATP11C, ATP2B3, ATP6AP1, ATP7A, ATRX, AVPR2, BCOR, BGN, BMP15, BRWD3, CHM, COL4A6, CSF2RA, DKC1, DLG3, DMD, EBP, EIF2S3, F8, FAM58A, FOXP3, G6PD, GPR101, GRIA3, HCFC1, HMGB3, HUWE1, IGSF1, KAL1, KIF4A, MAOA, MED12, NR0B1, NSDHL, PDHA1, PLP1, POU3F4, PRPS1, RBMX, RLIM, RPL10, SHROOM4, SLC9A6, TEX11, TFE3, UBA1, VMA21, XG, XIAP,

AFF2	Mental retardation, X-linked, FRAXE type, 309548 (3)
AIFM1	Combined oxidative phosphorylation deficiency 6, 300816 (3) Cowchock syndrome, 310490 (3) Deafness, X-linked 5, 300614 (3)
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)
AVPR2	Diabetes insipidus, nephrogenic, 304800 (3) Nephrogenic syndrome of inappropriate antidiuresis, 300539 (3)
BCOR	Microphthalmia, syndromic 2, 300166 (3)
BGN	Meester-Loeys syndrome, 300989 (3) Spondyloepimetaphyseal dysplasia, X-linked, 300106 (3)
BMP15	Ovarian dysgenesis 2, 300510 (3) Premature ovarian failure 4, 300510 (3)
BRWD3	Mental retardation, X-linked 93, 300659 (3)
CHM	Choroideremia, 303100 (3)
COL4A6	?Deafness, X-linked 6, 300914 (3)
CSF2RA	Surfactant metabolism dysfunction, pulmonary, 4, 300770 (3)
DKC1	Dyskeratosis congenita, X-linked, 305000 (3)
DLG3	Mental retardation, X-linked 90, 300850 (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)
F8	Hemophilia A, 306700 (3)
FAM58A	STAR syndrome, 300707 (3)
FOXP3	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (3) {Diabetes mellitus, type I, susceptibility to}, 222100 (3)
G6PD	Hemolytic anemia, G6PD deficient (favism), 300908 (3) {Resistance to malaria due to G6PD deficiency}, 611162 (3)
GPR101	Pituitary adenoma 2, GH-secreting, 300943 (3)
GRIA3	Mental retardation, X-linked 94, 300699 (3)
HCFC1	Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 (3)
HMGB3	?Microphthalmia, syndromic 13, 300915 (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)
MAOA	Brunner syndrome, 300615 (3) {Antisocial behavior}, 300615 (3)
MED12	Lujan-Fryns syndrome, 309520 (3) Ohdo syndrome, X-linked, 300895 (3) Opitz-Kaveggia syndrome, 305450 (3)
NR0B1	Adrenal hypoplasia, congenital, 300200 (3) 46XY sex reversal 2, dosage-sensitive, 300018 (3)
NSDHL	CK syndrome, 300831 (3) CHILD syndrome, 308050 (3)
PDHA1	Pyruvate dehydrogenase E1-alpha deficiency, 312170 (3)
PLP1	Pelizaeus-Merzbacher disease, 312080 (3) Spastic paraplegia 2, X-linked, 312920 (3)
POU3F4	Deafness, X-linked 2, 304400 (3)
PRPS1	Arts syndrome, 301835 (3) Gout, PRPS-related, 300661 (3) Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070 (3) Deafness, X-linked 1, 304500 (3) Phosphoribosylpyrophosphate synthetase superactivity, 300661 (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)
SHROOM4	Stocco dos Santos X-linked mental retardation syndrome, 300434 (3)
SLC9A6	Mental retardation, X-linked syndromic, Christianson type, 300243 (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)
VMA21	Myopathy, X-linked, with excessive autophagy, 310440 (3)
XG	[Blood group, XG system] (3)
XIAP	Lymphoproliferative syndrome, X-linked, 2, 300635 (3)

Genes at Clinical Genomics Database

AFF2, AIFM1, AR, ARSE, ATP2B3, ATP7A, ATRX, AVPR2, BCOR, BMP15, BRWD3, CD40LG, CHM, COL4A6, CSF2RA, DKC1, DLG3, DMD, EBP, F8, FAM58A, FOXP3, G6PD, GPR101, GRIA3, HCFC1, HMGB3, HUWE1, IGSF1, KIF4A, MAOA, MED12, NR0B1, NSDHL, NXF5, PDHA1, PLP1, POF1B, POU3F4, PRPS1, RBMX, SHROOM4, SLC9A6, TENM1, TEX11, UBA1, VMA21, XG, XIAP,

AFF2	Premature ovarian failure
AIFM1	Deafness, X-linked 5
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
AVPR2	Diabetes insipidus, nephrogenic, X-linked
BCOR	Microphthalmia, syndromic 2 Oculofaciocardiodental syndrome
BMP15	Premature ovarian failure 4 Ovarian dysgenesis 2
BRWD3	Mental retardation, X-linked 93
CD40LG	Immunodeficiency, with hyper-IgM, type 1
CHM	Choiroideremia
COL4A6	Deafness, X-linked, with cochlear malformation
CSF2RA	Surfactant metabolism dysfunction, pulmonary, 4
DKC1	Dyskeratosis congenita, X-linked Hoyeraal-Hreidarsson syndrome
DLG3	Mental retardation, X-linked 90
DMD	Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy, dilated, 3B
EBP	Chondrodysplasia punctata 2, X-linked dominant Male EBP disorder with neurologic defects (MEND)
F8	Hemophilia A
FAM58A	STAR syndrome Toe syndactyly, telecanthus, and anogenital and renal malformations
FOXP3	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX)
G6PD	Glucose-6-phosphate dehydrogenase deficiency
GPR101	Pituitary adenoma, growth hormone secreting, 2
GRIA3	Mental retardation, X-linked 94
HCFC1	Combined methylmalonic acidemia and hyperhomocysteinemia
HMGB3	Microphthalmia, syndromic 13
HUWE1	Mental retardation, X-linked syndromic, Turner type
IGSF1	Central hypothyroidism and testicular enlargement
KIF4A	Mental retardation, X-linked 100
MAOA	Brunner syndrome
MED12	Lujan-Fryns syndrome Opitz-Kaveggia syndrome Mental retardation, X-linked, with Marfanoid habitus FG syndrome Ohdo syndrome
NR0B1	Adrenal hypoplasia, congenital 46,XY sex reversal 2
NSDHL	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome) CK syndrome
NXF5	Familial heart block and focal segmental glomerulosclerosis
PDHA1	Pyruvate dehydrogenase E1-alpha deficiency Leigh syndrome, X-linked
PLP1	Spastic paraplegia-2 Pelizaeus-Merzbacher disease
POF1B	Premature ovarian failure 2B
POU3F4	Deafness, X-linked 2
PRPS1	Arts syndrome Deafness, X-linked 1 Phosphoribosylpyrophosphate synthetase I superactivity
RBMX	Mental retardation, X-linked, syndromic 11, Shashi type
SHROOM4	Stocco dos Santos X-linked mental retardation syndrome
SLC9A6	Mental retardation, X-linked syndromic, Christianson type
TENM1	Microphthalmia, isolated, with coloboma 9
TEX11	Spermatogenic failure, X-linked 2
UBA1	Spinal muscular atrophy, X-linked 2, infantile
VMA21	Myopathy, X-linked, with excessive autophagy
XG	XG blood group
XIAP	Lymphoproliferative syndrome, X-linked, 2

Genes at HGMD

Summary

Number of Variants: 2201
Number of Genes: 209

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_55.variant18	X	rs5934731 dbSNP Clinvar	9935844	2487.4	C	T	PASS	1/1	132	SYNONYMOUS_CODING	LOW	None	0.51656	0.51660					None None	None None None None	None
	View	combined sample_55.variant18	X	rs5934730 dbSNP Clinvar	9935526	4172.22	G	T	PASS	1/1	193	SYNONYMOUS_CODING	LOW	None	0.42967	0.42970					None None	None None None None	None
AFF2
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_55.variant18	X	rs241084 dbSNP Clinvar	147800748	865.46	A	G	PASS	1/1	68	None	None	None	0.28106	0.28110		0.30	0.00		None None	None None None None	AFF2\|0.928741292\|2.76%
AIFM1
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_55.variant18	X	rs1139851 dbSNP Clinvar	129283520	2411.76	A	G	PASS	1/1	51	SYNONYMOUS_CODING	LOW	None	0.49113	0.49110	0.49020				None None	None None None None	AIFM1\|0.770044974\|6.56%
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_55.variant18	X	rs58902273 dbSNP Clinvar	1718360	2089.98	G	A	PASS	0/1	143	None	None	None	0.49361	0.49360	0.43836	0.03	0.00		None None	None None None None	AKAP17A\|0.002882858\|88.87%
	View	combined sample_55.variant18	X	rs28661622 dbSNP Clinvar	1719897	3720.99	C	G	PASS	0/1	135	NON_SYNONYMOUS_CODING	MODERATE	None	0.53355	0.53350	0.48013	0.48	0.00		None None	None None None None	AKAP17A\|0.002882858\|88.87%
APOO
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_55.variant18	X	.	23886736	253.06	C	G	PASS	1/1	12	NON_SYNONYMOUS_CODING	MODERATE	None				0.04	0.43		None None	None None None None	APOO\|0.169681543\|40.36%
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_55.variant18	X	.	66765158	827.65	TG...	TG...	PASS	2/2	7	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	AR\|0.999436019\|0.35%
	View	combined sample_55.variant18	X	rs780052930 dbSNP Clinvar	66766356	254.3	TG...	TG...	PASS	2/2	18	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None			0.07586				None None	None None None None	AR\|0.999436019\|0.35%
ARL13A
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_55.variant18	X	rs3934462 dbSNP Clinvar	100243459	2205.87	G	T	PASS	1/1	63	NON_SYNONYMOUS_CODING	MODERATE	None	0.91338	0.91340	0.10304	0.12	0.00		None None	None None None None	ARL13A\|0.006011211\|84.59%
	View	combined sample_55.variant18	X	rs6523438 dbSNP Clinvar	100245606	3278.86	A	G	PASS	1/1	96	None	None	None	0.85642	0.85640	0.16250				None None	None None None None	ARL13A\|0.006011211\|84.59%
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_55.variant18	X	rs3850315 dbSNP Clinvar	100911066	2007.54	C	T	PASS	1/1	53	SYNONYMOUS_CODING	LOW	None	0.96689	0.96690	0.05737				None None	None None None None	ARMCX2\|0.023937868\|72.22%
	View	combined sample_55.variant18	X	rs34620534 dbSNP Clinvar	100911165	2322.4	A	G	PASS	1/1	83	SYNONYMOUS_CODING	LOW	None	0.02040	0.02040	0.02613				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