Mendel,MD | Dashboard

+ Filter Options

SELECT VARIANTS FROM		EXCLUDE VARIANTS FROM
INDIVIDUALS: SNP LIST:	GROUPS: SAVED GENE LIST: GENE LIST:	INDIVIDUALS: EXCLUDE SNP LIST:	EXCLUDE GROUPS: EXCLUDE SAVED GENE LIST: EXCLUDE GENE LIST:
SELECT INHERITANCE:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:

VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
MUTATION TYPE:	CHR: POS:

DBSNP BUILD: EXCLUDE VARIANTS AT VARISNP	READ DEPTH: QUAL:	VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES	DBSNP FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN DBSNP	ESP6500 FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE	EXCLUDE VARIANTS WITHOUT SIFT SCORE	POLYPHEN2 SCORE	EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD	EXCLUDE VARIANTS WITHOUT CADD SCORE	MCAP	EXCLUDE VARIANTS WITHOUT M-CAP SCORE

OPEN RESULT IN A NEW WINDOW

RESET FILTER | Save Config | Save Analysis

Genes:
AIFM1, ALG13, AR, ARSE, ATP2B3, ATP6AP2, AVPR2, BCOR, BCORL1, BGN, BRWD3, CACNA1F, COL4A6, CSF2RA, DKC1, DMD, EDA2R, EIF2S3, F8, F9, FAAH2, FAM58A, FRMD7, GRIA3, GRPR, GUCY2F, GYG2, HCFC1, HDX, HEPH, HUWE1, IGSF1, IL9R, IRS4, KAL1, KDM6A, MAMLD1, MAOA, MAP3K15, MED12, NR0B1, PLP1, POU3F4, PTCHD1, RPL10, SATL1, SERPINA7, SLC9A6, SPANXN5, SSX7, TFE3, TMEM187, UBA1, UBE2NL, USP26, VCX3A, WDR13, ZNF81,

+ Genes associated with diseases 37

Genes at Omim

AIFM1, ALG13, AR, ARSE, ATP2B3, ATP6AP2, AVPR2, BCOR, BGN, BRWD3, CACNA1F, COL4A6, CSF2RA, DKC1, DMD, EIF2S3, F8, F9, FAM58A, FRMD7, GRIA3, HCFC1, HUWE1, IGSF1, KAL1, KDM6A, MAMLD1, MAOA, MED12, NR0B1, PLP1, POU3F4, PTCHD1, RPL10, SLC9A6, TFE3, UBA1,

AIFM1	Combined oxidative phosphorylation deficiency 6, 300816 (3) Cowchock syndrome, 310490 (3) Deafness, X-linked 5, 300614 (3)
ALG13	Epileptic encephalopathy, early infantile, 36, 300884 (3) ?Congenital disorder of glycosylation, type Is, 300884 (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)
ATP2B3	?Spinocerebellar ataxia, X-linked 1, 302500 (3)
ATP6AP2	Mental retardation, X-linked, syndromic, Hedera type, 300423 (3) ?Parkinsonism with spasticity, X-linked, 300911 (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)
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)
COL4A6	?Deafness, X-linked 6, 300914 (3)
CSF2RA	Surfactant metabolism dysfunction, pulmonary, 4, 300770 (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)
F8	Hemophilia A, 306700 (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)
FAM58A	STAR syndrome, 300707 (3)
FRMD7	Nystagmus 1, congenital, X-linked, 310700 (3) Nystagmus, infantile periodic alternating, X-linked, 310700 (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)
KDM6A	Kabuki syndrome 2, 300867 (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)
PLP1	Pelizaeus-Merzbacher disease, 312080 (3) Spastic paraplegia 2, X-linked, 312920 (3)
POU3F4	Deafness, X-linked 2, 304400 (3)
PTCHD1	{Autism, susceptibility to, X-linked 4}, 300830 (3)
RPL10	Mental retardation, X-linked, syndromic, 35, 300998 (3) {Autism, susceptibility to, X-linked 5}, 300847 (3)
SLC9A6	Mental retardation, X-linked syndromic, Christianson type, 300243 (3)
TFE3	Renal cell carcinoma, papillary, 1, 300854 (3)
UBA1	Spinal muscular atrophy, X-linked 2, infantile, 301830 (3)

Genes at Clinical Genomics Database

AIFM1, ALG13, AR, ARSE, ATP2B3, ATP6AP2, AVPR2, BCOR, BRWD3, CACNA1F, COL4A6, CSF2RA, DKC1, DMD, F8, F9, FAM58A, FRMD7, GRIA3, HCFC1, HUWE1, IGSF1, KDM6A, MAMLD1, MAOA, MED12, NR0B1, PLP1, POU3F4, PTCHD1, SERPINA7, SLC9A6, UBA1, ZNF81,

AIFM1	Deafness, X-linked 5
ALG13	Epileptic encephalopathy, early infantile, 36
AR	Androgen insensitivity Androgen insensitivity, partial
ARSE	Chondrodysplasia punctata 1, X-linked recessive
ATP2B3	Spinocerebellar ataxia, X-linked 1
ATP6AP2	Mental retardation, X-linked, syndromic, Hedera type Parkinsonism with spasticity, X-linked
AVPR2	Diabetes insipidus, nephrogenic, X-linked
BCOR	Microphthalmia, syndromic 2 Oculofaciocardiodental syndrome
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
COL4A6	Deafness, X-linked, with cochlear malformation
CSF2RA	Surfactant metabolism dysfunction, pulmonary, 4
DKC1	Dyskeratosis congenita, X-linked Hoyeraal-Hreidarsson syndrome
DMD	Duchenne muscular dystrophy Becker muscular dystrophy Cardiomyopathy, dilated, 3B
F8	Hemophilia A
F9	Hemophilia B Thrombophilia, X-linked, due to factor IX defect Warfarin sensitivity
FAM58A	STAR syndrome Toe syndactyly, telecanthus, and anogenital and renal malformations
FRMD7	Nystagmus, infantile periodic alternating, X-linked
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
KDM6A	Kabuki syndrome 2
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
PLP1	Spastic paraplegia-2 Pelizaeus-Merzbacher disease
POU3F4	Deafness, X-linked 2
PTCHD1	Autism susceptibility, X-linked 4
SERPINA7	Thyroxine-binding globulin deficiency Thyroxine-binding globulin excess
SLC9A6	Mental retardation, X-linked syndromic, Christianson type
UBA1	Spinal muscular atrophy, X-linked 2, infantile
ZNF81	Mental retardation, X-linked 45

Genes at HGMD

Summary

Number of Variants: 419
Number of Genes: 58

Export to: CSV

Page 1 of 5
next

Page 1 of 5
next

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	pa883-full_variant_table	X	rs1139851 dbSNP Clinvar	129283520	368.0	A	G	low_coverage	1/1	14	SYNONYMOUS_CODING	LOW	SILENT	0.49113	0.49110	0.49020				None None	None None None None	AIFM1\|0.770044974\|6.56%
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	pa883-full_variant_table	X	rs142841538 dbSNP Clinvar	110980029	1061.0	G	C	PASS	1/1	38	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.00079	0.00079	0.00086	0.06	0.01		None None	None None None None	ALG13\|0.14657544\|43.52%
	View	pa883-full_variant_table	X	rs748742452 dbSNP Clinvar	110987996	128.0	A	T	off_target	0/1	39	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	ALG13\|0.14657544\|43.52%
	View	pa883-full_variant_table	X	rs754237367 dbSNP Clinvar	110987996	118.0	A	ACCT	low_variant_fraction;off_target	0/1	56	SYNONYMOUS_CODING	LOW	SILENT							None None	None None None None	ALG13\|0.14657544\|43.52%
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	pa883-full_variant_table	X	rs778920072 dbSNP Clinvar	66765158	138.0	TGCA	T	low_variant_fraction	0/1	56	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE								None None	None None None None	AR\|0.999436019\|0.35%
ARSE
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	pa883-full_variant_table	X	rs35143646 dbSNP Clinvar	2856155	2510.0	C	T	PASS	1/1	90	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.57457	0.57460	0.49223	0.18	0.49		None None	None None None None	ARSE\|0.002669381\|89.33%
	View	pa883-full_variant_table	X	rs11222 dbSNP Clinvar	2852951	3065.0	G	A	PASS	1/1	110	SYNONYMOUS_CODING	LOW	SILENT	0.56583	0.56580	0.45809				None None	None None None None	ARSE\|0.002669381\|89.33%
ATP2B3
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	pa883-full_variant_table	X	rs3020949 dbSNP Clinvar	152815089	2130.0	A	G	PASS	1/1	79	SYNONYMOUS_CODING	LOW	SILENT	0.98543	0.98540	0.01051				None None	None None None None	ATP2B3\|0.203946244\|36.25%
ATP6AP2
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	pa883-full_variant_table	X	rs9014 dbSNP Clinvar	40450585	1565.0	C	G	PASS	1/1	56	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.02940	0.02940	0.04989	0.49	0.00		None None	None None None None	ATP6AP2\|0.213725409\|35.15%
AVPR2
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	pa883-full_variant_table	X	rs5201 dbSNP Clinvar	153171993	1774.0	A	G	PASS	1/1	64	SYNONYMOUS_CODING	LOW	SILENT	0.68848	0.68850	0.49778				None None	None None None None	L1CAM\|0.504864866\|15.59%,AVPR2\|0.577522936\|12.7%
BCOR
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	pa883-full_variant_table	X	rs5917933 dbSNP Clinvar	39933339	2316.0	A	G	PASS	1/1	83	SYNONYMOUS_CODING	LOW	SILENT	0.90305	0.90300	0.10425				None None	None None None None	BCOR\|0.481414102\|16.71%
BCORL1
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	pa883-full_variant_table	X	rs4830173 dbSNP Clinvar	129147079	2685.0	T	C	PASS	1/1	97	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	1.00000	1.00000			0.00		None None	None None None None	BCORL1\|0.202266088\|36.48%
BGN