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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
AFF2, ALG13, ARHGAP4, ARL13A, ARMCX2, ARMCX4, ARSD, ARSF, ARSH, ASB11, ATP11C, ATP2B3, ATP6AP1, ATP7A, ATRX, AVPR2, BCOR, BCORL1, BGN, BMP15, BRWD3, CCDC160, CDR1, CFP, CITED1, COL4A6, CPXCR1, CT45A5, CT47B1, CXorf21, CXorf22, CXorf36, CXorf38, CXorf40A, CXorf56, CXorf58, CXorf64, CXorf67, DKC1, DMD, DNASE1L1, DYNLT3, EDA2R, EIF2S3, ELF4, F9, FAAH2, FAM120C, FAM127B, FAM46D, FAM47A, FAM47C, FGF13, FMR1NB, FOXR2, FRMPD4, GABRE, GAGE12J, GAGE2A, GDPD2, GLRA4, GPC4, GPR174, GRIA3, GUCY2F, GYG2, H2BFM, H2BFWT, HCFC1, HDHD1, HDX, HEPH, HUWE1, IDS, IGSF1, IQSEC2, IRAK1, KAL1, KIAA1210, KIAA2022, KIF4A, KLHL4, LAMP2, LANCL3, LCA10, MAGEA10, MAGEA11, MAGEA12, MAGEA8, MAGEB10, MAGEB16, MAGEB2, MAGEB3, MAGEB4, MAGEB6, MAGEC1, MAGEC2, MAGEC3, MAGEE1, MAGEH1, MAGIX, MAMLD1, MAOA, MAP3K15, MAP7D2, MAP7D3, MCF2, MED12, MPP1, MTMR1, NAP1L3, NHSL2, NR0B1, NRK, NSDHL, NUDT10, NXF2B, P2RY4, PAGE2, PAGE2B, PAGE3, PASD1, PCSK1N, PDZD4, PIN4, PIR, PLP1, PLXNB3, PNMA3, POF1B, PORCN, POU3F4, PRICKLE3, PRKX, PTCHD1, RAB40A, RAB40AL, RAI2, RBBP7, RBMX, RBMXL3, RENBP, RGAG4, RP11-706O15.1, RPL10, RPS4X, RPS6KA3, SATL1, SLC25A43, SLC25A5, SLC7A3, SLC9A7, SLITRK2, SMC1A, SOWAHD, SPANXN3, SPANXN5, SPIN2A, SRPK3, SSX5, SYN1, SYTL4, SYTL5, TAB3, TAF7L, TAZ, TCEAL4, TEX11, TFE3, TGIF2LX, TIMM17B, TIMP1, TLR8, TMEM47, TNMD, TXLNG, UBA1, UBE2NL, UPRT, USP26, USP51, VBP1, VCX, VCX3A, VCX3B, WAS, WDR13, WWC3, XAGE3, XG, XPNPEP2, ZCCHC16, ZMAT1, ZNF157, ZNF275, ZNF645, ZNF674, ZNF75D, ZNF81, ZXDA, ZXDB,

+ Genes associated with diseases 49

Genes at Omim

AFF2, ALG13, ATP11C, ATP2B3, ATP6AP1, ATP7A, ATRX, AVPR2, BCOR, BGN, BMP15, BRWD3, COL4A6, CXorf56, DKC1, DMD, EIF2S3, F9, FRMPD4, GRIA3, HCFC1, HUWE1, IDS, IGSF1, IQSEC2, KAL1, KIF4A, LAMP2, MAMLD1, MAOA, MED12, NR0B1, NSDHL, PLP1, PORCN, POU3F4, PTCHD1, RBMX, RPL10, RPS6KA3, SMC1A, SYN1, TAZ, TEX11, TFE3, UBA1, WAS, XG, XPNPEP2,

AFF2	Mental retardation, X-linked, FRAXE type, 309548 (3)
ALG13	Epileptic encephalopathy, early infantile, 36, 300884 (3) ?Congenital disorder of glycosylation, type Is, 300884 (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)
COL4A6	?Deafness, X-linked 6, 300914 (3)
CXorf56	?Mental retardation, X-linked 107, 301013 (3)
DKC1	Dyskeratosis congenita, X-linked, 305000 (3)
DMD	Becker muscular dystrophy, 300376 (3) Cardiomyopathy, dilated, 3B, 302045 (3) Duchenne muscular dystrophy, 310200 (3)
EIF2S3	MEHMO syndrome, 300148 (3)
F9	Hemophilia B, 306900 (3) {Warfarin sensitivity}, 122700 (3) Thrombophilia, X-linked, due to factor IX defect, 300807 (3) {Deep venous thrombosis, protection against}, 300807 (3)
FRMPD4	Mental retardation, X-linked 104, 300983 (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)
IDS	Mucopolysaccharidosis II, 309900 (3)
IGSF1	Hypothyroidism, central, and testicular enlargement, 300888 (3)
IQSEC2	Mental retardation, X-linked 1/78, 309530 (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)
MAMLD1	Hypospadias 2, X-linked, 300758 (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)
PLP1	Pelizaeus-Merzbacher disease, 312080 (3) Spastic paraplegia 2, X-linked, 312920 (3)
PORCN	Focal dermal hypoplasia, 305600 (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)
RPL10	Mental retardation, X-linked, syndromic, 35, 300998 (3) {Autism, susceptibility to, X-linked 5}, 300847 (3)
RPS6KA3	Coffin-Lowry syndrome, 303600 (3) Mental retardation, X-linked 19, 300844 (3)
SMC1A	Cornelia de Lange syndrome 2, 300590 (3)
SYN1	Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3)
TAZ	Barth syndrome, 302060 (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)
WAS	Neutropenia, severe congenital, X-linked, 300299 (3) Thrombocytopenia, X-linked, 313900 (3) Thrombocytopenia, X-linked, intermittent, 313900 (3) Wiskott-Aldrich syndrome, 301000 (3)
XG	[Blood group, XG system] (3)
XPNPEP2	{Angioedema induced by ACE inhibitors, susceptibility to}, 300909 (3)

Genes at Clinical Genomics Database

AFF2, ALG13, ATP2B3, ATP7A, ATRX, AVPR2, BCOR, BMP15, BRWD3, CFP, COL4A6, DKC1, DMD, F9, GRIA3, HCFC1, HUWE1, IDS, IGSF1, IQSEC2, KIAA2022, KIF4A, LAMP2, MAMLD1, MAOA, MED12, NR0B1, NSDHL, PLP1, POF1B, PORCN, POU3F4, PTCHD1, RBMX, RPS6KA3, SMC1A, SYN1, TAZ, TEX11, UBA1, WAS, XG, XPNPEP2, ZNF674, ZNF81,

AFF2	Premature ovarian failure
ALG13	Epileptic encephalopathy, early infantile, 36
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
CFP	Properdin deficiency, X-linked
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
F9	Hemophilia B Thrombophilia, X-linked, due to factor IX defect Warfarin sensitivity
GRIA3	Mental retardation, X-linked 94
HCFC1	Combined methylmalonic acidemia and hyperhomocysteinemia
HUWE1	Mental retardation, X-linked syndromic, Turner type
IDS	Mucopolysaccharidosis type II
IGSF1	Central hypothyroidism and testicular enlargement
IQSEC2	Mental retardation, X-linked 1
KIAA2022	Mental retardation, X-linked 98
KIF4A	Mental retardation, X-linked 100
LAMP2	Danon disease
MAMLD1	Hypospadias 2, X-linked
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
PLP1	Spastic paraplegia-2 Pelizaeus-Merzbacher disease
POF1B	Premature ovarian failure 2B
PORCN	Focal dermal hypoplasia
POU3F4	Deafness, X-linked 2
PTCHD1	Autism susceptibility, X-linked 4
RBMX	Mental retardation, X-linked, syndromic 11, Shashi type
RPS6KA3	Coffin-Lowry syndrome Mental retardation, X-linked 19
SMC1A	Cornelia de Lange syndrome 2
SYN1	Epilepsy, X-linked, with variable learning disabilities and behavior disorders
TAZ	3-Methylglutaconic aciduria, type II (Barth syndrome)
TEX11	Spermatogenic failure, X-linked 2
UBA1	Spinal muscular atrophy, X-linked 2, infantile
WAS	Wiskott-Aldrich syndrome Thrombocytopenia 1 Neutropenia, severe congenital, X-linked
XG	XG blood group
XPNPEP2	Angioedema induced by ACE inhibitors, susceptibility to
ZNF674	Mental retardation, X-linked 92
ZNF81	Mental retardation, X-linked 45

Genes at HGMD

Summary

Number of Variants: 1363
Number of Genes: 201

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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	snps raw-snps 17_0233	X	rs241084 dbSNP Clinvar	147800748	5776.9	A	G	.	1/1	134	None	None	None	0.28106	0.28110		0.30	0.00	-0.20	None None	None None None None	AFF2\|0.928741292\|2.76%
ALG13
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	snps raw-snps 17_0233	X	.	110987975	87.16	A	T	.	0/1	43	None	None	None							None None	None None None None	ALG13\|0.14657544\|43.52%
	View	snps raw-snps 17_0233	X	rs868186329 dbSNP Clinvar	110988067	46.18	A	C	LowQual	0/1	52	None	None	None				0.24	0.00	-0.37	0.00 0.02185 T	None None None None	ALG13\|0.14657544\|43.52%
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	snps raw-snps 17_0233	X	rs2070097 dbSNP Clinvar	153176254	5243.13	A	G	.	1/1	57	None	None	None	0.70490	0.70490	0.44202				None None	None None None None	ARHGAP4\|0.028368935\|70.27%
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	snps raw-snps 17_0233	X	rs6523438 dbSNP Clinvar	100245606	9769.9	A	G	.	1/1	69	None	None	None	0.85642	0.85640	0.16250				None None	None None None None	ARL13A\|0.006011211\|84.59%
	View	snps raw-snps 17_0233	X	rs3934462 dbSNP Clinvar	100243459	8373.9	G	T	.	1/1	58	None	None	None	0.91338	0.91340	0.10304	0.12	0.00		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	snps raw-snps 17_0233	X	rs3850315 dbSNP Clinvar	100911066	9161.9	C	T	.	1/1	74	None	None	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	snps raw-snps 17_0233	X	.	100746138	155.18	C	T	.	0/1	52	None	None	None							None None	None None None None	ARMCX4\|0.006015436\|84.57%
	View	snps raw-snps 17_0233	X	.	100746130	236.16	C	T	.	0/1	61	None	None	None				0.78	0.12	-0.60	0.01 0.26348 T	None None None None	ARMCX4\|0.006015436\|84.57%
	View	snps raw-snps 17_0233	X	rs5951333 dbSNP Clinvar	100745825	7104.9	T	C	.	1/1	32	None	None	None	0.66199	0.66200		0.61	0.00	-0.18	None None	None None None None	ARMCX4\|0.006015436\|84.57%
	View	snps raw-snps 17_0233	X	rs868967008 dbSNP Clinvar	100745758	101.18	A	G	.	0/1	41	None	None	None				1.00	0.00	-2.83	0.01 0.17867 T	None None None None	ARMCX4\|0.006015436\|84.57%
	View	snps raw-snps 17_0233	X	rs5951332 dbSNP Clinvar	100743826	12664.9	A	G	.	1/1	108	None	None	None	0.61934	0.61930		0.65	0.00	-1.98	None None	None None None None	ARMCX4\|0.006015436\|84.57%
	View	snps raw-snps 17_0233	X	rs3174476 dbSNP Clinvar	100749585	9817.9	C	T	.	1/1	81	None	None	None	0.44106	0.44110					None None	None None None None	ARMCX4\|0.006015436\|84.57%
	View	snps raw-snps 17_0233	X	.	100746093	400.27	A	G	.	0/1	64	None	None	None							None None	None None None None	ARMCX4\|0.006015436\|84.57%
	View	snps raw-snps 17_0233	X	rs5951336 dbSNP Clinvar	100749127	2234.9	A	G	.	1/1	14	None	None	None	0.69166	0.69170		1.00	0.00	-2.21	None None	None None None None	ARMCX4\|0.006015436\|84.57%
	View	snps raw-snps 17_0233	X	rs5991911 dbSNP Clinvar	100748078	12273.9	A	G	.	1/1	99	None	None	None	1.00000	1.00000		1.00	0.00		None None	None None None None	ARMCX4\|0.006015436\|84.57%
	View	snps raw-snps 17_0233	X	.	100746581	224.92	T	C	.	0/1	68	None	None	None				0.08	0.96	2.44	0.03 0.54163 D	None None None None	ARMCX4\|0.006015436\|84.57%
	View	snps raw-snps 17_0233	X	.	100746482	84.16	G	A	.	0/1	51	None	None	None				0.32	0.58	1.53	0.02 0.44215 T	None None None None	ARMCX4\|0.006015436\|84.57%
	View	snps raw-snps 17_0233	X	rs183076981 dbSNP Clinvar	100749065	22.63	A	G	LowQual	0/1	4	None	None	None				0.16	0.00	-0.26	0.00 0.1181 T	None None None None	ARMCX4\|0.006015436\|84.57%
ARSD
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