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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
AC002365.1, AMELX, AR, ARHGAP4, ARL13A, ARMCX2, ARMCX3, ARMCX4, ARMCX6, ARSD, ARSE, ATP11C, ATP2B3, ATP7A, ATXN3L, AVPR2, BCORL1, BGN, BRWD3, CACNA1F, CAPN6, CCDC160, CCDC22, CITED1, CLCN5, COL4A6, CPXCR1, CSAG1, CT45A5, CT47B1, CTAG2, CXorf21, CXorf27, CXorf38, CXorf40A, CXorf56, CXorf64, CXorf65, CYLC1, CYSLTR1, DCAF8L2, DIAPH2, DKC1, DLG3, DMD, DOCK11, EDA2R, EIF2S3, ELF4, FAAH2, FAM120C, FAM127B, FAM155B, FGF13, FLNA, FMR1NB, FOXR2, FRMPD4, FTHL17, FUNDC1, G6PD, GABRE, GABRQ, GDI1, GDPD2, GLRA4, GPR112, GPR82, GRIA3, GRIPAP1, GYG2, HDHD1, HEPH, HUWE1, IGSF1, IRAK1, KAL1, KCNE1L, KIAA1210, KIF4A, KRBOX4, LCA10, LONRF3, MAGEA10, MAGEA6, MAGEA8, MAGEB10, MAGEB18, MAGEB2, MAGEB3, MAGEB4, MAGEC1, MAGEC3, MAGIX, MAOA, MAP7D2, MCF2, MED12, MPP1, MTMR1, NHS, NHSL2, NOX1, NR0B1, NRK, NSDHL, NUDT10, NUDT11, NYX, OPN1LW, PAGE1, PAGE2, PAGE3, PASD1, PCSK1N, PDHA1, PIN4, PJA1, PLXNA3, PLXNB3, PNMA3, POU3F4, PRKX, PRRG3, PTCHD1, RAB40A, RAI2, RBBP7, RBM3, RBMX, RBMXL3, RGAG4, RIBC1, RPS4X, RPS6KA6, SHROOM2, SLC16A2, SLC25A43, SLC25A5, SLC9A7, SLITRK2, SOWAHD, SPANXN2, SPANXN5, SPIN2A, SSX5, SYTL4, TAB3, TAF7L, TCEAL4, TCEAL6, TEX11, TEX13A, TIMP1, TLR8, TNMD, TRMT2B, UBA1, UBE2NL, UPRT, USP51, VBP1, VCX2, VMA21, WDR13, WWC3, XAGE3, XG, ZCCHC16, ZMAT1, ZNF275, ZNF630, ZRSR2, ZXDB,

+ Genes associated with diseases 44

Genes at Omim

AMELX, AR, ARSE, ATP11C, ATP2B3, ATP7A, AVPR2, BGN, BRWD3, CACNA1F, CCDC22, CLCN5, COL4A6, CXorf56, DIAPH2, DKC1, DLG3, DMD, EIF2S3, FLNA, FRMPD4, G6PD, GDI1, GRIA3, HUWE1, IGSF1, KAL1, KIF4A, MAOA, MED12, NHS, NR0B1, NSDHL, NYX, OPN1LW, PDHA1, POU3F4, PTCHD1, RBMX, SLC16A2, TEX11, UBA1, VMA21, XG,

AMELX	Amelogenesis imperfecta, type 1E, 301200 (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)
ARSE	Chondrodysplasia punctata, X-linked recessive, 302950 (3)
ATP11C	?Hemolytic anemia, congenital, X-linked, 301015 (3)
ATP2B3	?Spinocerebellar ataxia, X-linked 1, 302500 (3)
ATP7A	Menkes disease, 309400 (3) Occipital horn syndrome, 304150 (3) Spinal muscular atrophy, distal, X-linked 3, 300489 (3)
AVPR2	Diabetes insipidus, nephrogenic, 304800 (3) Nephrogenic syndrome of inappropriate antidiuresis, 300539 (3)
BGN	Meester-Loeys syndrome, 300989 (3) Spondyloepimetaphyseal dysplasia, X-linked, 300106 (3)
BRWD3	Mental retardation, X-linked 93, 300659 (3)
CACNA1F	Aland Island eye disease, 300600 (3) Cone-rod dystrophy, X-linked, 3, 300476 (3) Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071 (3)
CCDC22	Ritscher-Schinzel syndrome 2, 300963 (3)
CLCN5	Hypophosphatemic rickets, 300554 (3) Dent disease, 300009 (3) Nephrolithiasis, type I, 310468 (3) Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 (3)
COL4A6	?Deafness, X-linked 6, 300914 (3)
CXorf56	?Mental retardation, X-linked 107, 301013 (3)
DIAPH2	?Premature ovarian failure 2A, 300511 (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)
EIF2S3	MEHMO syndrome, 300148 (3)
FLNA	Frontometaphyseal dysplasia 1, 305620 (3) Cardiac valvular dysplasia, X-linked, 314400 (3) Heterotopia, periventricular, 1, 300049 (3) Congenital short bowel syndrome, 300048 (3) Intestinal pseudoobstruction, neuronal, 300048 (3) Melnick-Needles syndrome, 309350 (3) ?FG syndrome 2, 300321 (3) Otopalatodigital syndrome, type I, 311300 (3) Otopalatodigital syndrome, type II, 304120 (3) Terminal osseous dysplasia, 300244 (3)
FRMPD4	Mental retardation, X-linked 104, 300983 (3)
G6PD	Hemolytic anemia, G6PD deficient (favism), 300908 (3) {Resistance to malaria due to G6PD deficiency}, 611162 (3)
GDI1	Mental retardation, X-linked 41, 300849 (3)
GRIA3	Mental retardation, X-linked 94, 300699 (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)
NHS	Cataract 40, X-linked, 302200 (3) Nance-Horan syndrome, 302350 (3)
NR0B1	Adrenal hypoplasia, congenital, 300200 (3) 46XY sex reversal 2, dosage-sensitive, 300018 (3)
NSDHL	CK syndrome, 300831 (3) CHILD syndrome, 308050 (3)
NYX	Night blindness, congenital stationary (complete), 1A, X-linked, 310500 (3)
OPN1LW	Blue cone monochromacy, 303700 (3) Colorblindness, protan, 303900 (3)
PDHA1	Pyruvate dehydrogenase E1-alpha deficiency, 312170 (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)
SLC16A2	Allan-Herndon-Dudley syndrome, 300523 (3)
TEX11	Spermatogenic failure, X-linked, 2, 309120 (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)

Genes at Clinical Genomics Database

AMELX, AR, ARSE, ATP2B3, ATP7A, AVPR2, BRWD3, CACNA1F, CCDC22, CLCN5, COL4A6, DIAPH2, DKC1, DLG3, DMD, FLNA, G6PD, GDI1, GRIA3, HUWE1, IGSF1, KIF4A, MAOA, MED12, NHS, NR0B1, NSDHL, NYX, OPN1LW, PDHA1, POU3F4, PTCHD1, RBMX, SLC16A2, TEX11, UBA1, VMA21, XG,

AMELX	Amelogenesis imperfecta, type 1E
AR	Androgen insensitivity Androgen insensitivity, partial
ARSE	Chondrodysplasia punctata 1, X-linked recessive
ATP2B3	Spinocerebellar ataxia, X-linked 1
ATP7A	Menkes disease
AVPR2	Diabetes insipidus, nephrogenic, X-linked
BRWD3	Mental retardation, X-linked 93
CACNA1F	Aland Island eye disease Cone-rod dystrophy, X-linked, 3 Night blindness, congenital stationary, X-linked, type 2A
CCDC22	Ritscher-Schinzel syndrome 2
CLCN5	Dent disease 1 Hypophosphatemic rickets, X-linked recessive Nephrolithiasis, type I Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis
COL4A6	Deafness, X-linked, with cochlear malformation
DIAPH2	Premature ovarian failure 2A
DKC1	Dyskeratosis congenita, X-linked Hoyeraal-Hreidarsson syndrome
DLG3	Mental retardation, X-linked 90
DMD	Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy, dilated, 3B
FLNA	Cardiac valvular dysplasia, X-linked Heterotopia, periventricular, Ehlers-Danlos variant Intestinal pseudoobstruction, neuronal, X-linked/Congenital short bowel syndrome
G6PD	Glucose-6-phosphate dehydrogenase deficiency
GDI1	Mental retardation, X-linked 41
GRIA3	Mental retardation, X-linked 94
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
NHS	Nance-Horan syndrome Cataract 40
NR0B1	Adrenal hypoplasia, congenital 46,XY sex reversal 2
NSDHL	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome) CK syndrome
NYX	Night blindness, congenital stationary, type 1A
OPN1LW	Colorblindness, partial, protan series Blue cone monochromacy Red cone polymorphism
PDHA1	Pyruvate dehydrogenase E1-alpha deficiency Leigh syndrome, X-linked
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
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

Genes at HGMD

Summary

Number of Variants: 1979
Number of Genes: 174

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FAM155B
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	index31	X	rs1171942 dbSNP Clinvar	68725640	2618.77	T	C	.	1/1	87	NON_SYNONYMOUS_CODING	MODERATE	None	0.64318	0.64320	0.48702	0.30	0.00	-0.77	None None	None None None None	FAM155B\|0.652325515\|10.02%
FGF13
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	index31	X	rs34825181 dbSNP Clinvar	138067202	1641.77	A	G	.	1/1	49	None	None	None	0.68291	0.68290	0.26079				None None	None None None None	FGF13\|0.912569109\|3.18%
FLNA
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	index31	X	rs2070825 dbSNP Clinvar	153581932	886.77	A	G	.	1/1	31	SYNONYMOUS_CODING	LOW	None	0.25404	0.25400	0.24397				None None	None None None None	FLNA\|0.71803245\|8.01%
FMR1NB
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	index31	X	rs764631 dbSNP Clinvar	147088249	908.77	C	T	.	1/1	34	NON_SYNONYMOUS_CODING	MODERATE	None	0.42305	0.42300	0.36562	1.00	0.00	-1.44	None None	None None None None	FMR1NB\|0.000454015\|98.67%
FOXR2
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	index31	X	rs2375465 dbSNP Clinvar	55651001	750.77	T	C	.	1/1	23	NON_SYNONYMOUS_CODING	MODERATE	None	0.81166	0.81170	0.19862	1.00	0.00	-1.85	None None	None None None None	FOXR2\|0.00232069\|90.12%
FRMPD4
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	index31	X	rs144170600 dbSNP Clinvar	12735177	474.77	A	G	.	1/1	15	NON_SYNONYMOUS_CODING	MODERATE	None			0.00038	1.00	0.00	-1.34	0.00 0.11716 T	None None None None	FRMPD4\|0.326594938\|25.72%
FTHL17
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	index31	X	rs7058123 dbSNP Clinvar	31089628	900.77	T	A	.	1/1	33	NON_SYNONYMOUS_CODING	MODERATE	None	0.06040	0.06040	0.00653	0.01	0.98	4.85	None None	None None None None	FTHL17\|0.000637657\|97.63%
	View	index31	X	rs7057057 dbSNP Clinvar	31089629	978.77	C	A	.	1/1	34	STOP_GAINED	HIGH	None	0.06040	0.06040	0.00663			8.67	None None	None None None None	FTHL17\|0.000637657\|97.63%
	View	index31	X	rs438870 dbSNP Clinvar	31089930	1338.77	C	T	.	1/1	48	SYNONYMOUS_CODING	LOW	None	0.26914	0.26910	0.24931				None None	None None None None	FTHL17\|0.000637657\|97.63%
FUNDC1
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	index31	X	rs201964391 dbSNP Clinvar	44386526	234.78	C	T	.	1/1	8	NON_SYNONYMOUS_CODING	MODERATE	None	0.00026	0.00026		0.14	0.01	3.19	0.05 0.63569 D	None None None None	FUNDC1\|0.576585682\|12.75%
G6PD
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	index31	X	rs2230037 dbSNP Clinvar	153760654	1882.77	G	A	.	1/1	68	SYNONYMOUS_CODING	LOW	None	0.21589	0.21590	0.16671				None None	None None None None	G6PD\|0.540907\|14.16%
GABRE
Omim - GeneCards - NCBI