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:
AC090616.2, ARHGAP39, ASCL1, BARD1, C14orf180, CABLES1, CACNA1A, CACNG8, CCDC33, CD101, CHRNA3, CLIC1, DACH1, DCHS1, EIF2AK3, FBXL21, FNBP4, FOXE1, GPR112, GPX1, GSE1, HDGFRP2, HYDIN, LRRC17, MAML2, MAML3, MAP3K1, MSH3, NINL, NUTM2F, OR4X1, OTUD7A, OVGP1, PDCD6, PIEZO1, PIK3C2G, PTPN18, REXO1, RFPL1, RRP36, SCAF1, SNAPC4, TAF4, TCF7L1, TDRP, TMIE, TP53TG5, TRPM4, TSPAN10, USP20, WDR81, ZAN, ZNF283, ZNF284,

+ Genes associated with diseases 16

Genes at Omim

ASCL1, BARD1, CACNA1A, CHRNA3, DCHS1, EIF2AK3, FOXE1, GPX1, HYDIN, MAML2, MAP3K1, MSH3, PIEZO1, TMIE, TRPM4, WDR81,

ASCL1	Central hypoventilation syndrome, congenital, 209880 (3) Haddad syndrome, 209880 (3)
BARD1	{Breast cancer, susceptibility to}, 114480 (3)
CACNA1A	Epileptic encephalopathy, early infantile, 42, 617106 (3) Episodic ataxia, type 2, 108500 (3) Migraine, familial hemiplegic, 1, 141500 (3) Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3) Spinocerebellar ataxia 6, 183086 (3)
CHRNA3	{Lung cancer susceptibility 2}, 612052 (3)
DCHS1	Mitral valve prolapse 2, 607829 (3) Van Maldergem syndrome 1, 601390 (3)
EIF2AK3	Wolcott-Rallison syndrome, 226980 (3)
FOXE1	Bamforth-Lazarus syndrome, 241850 (3) {Thyroid cancer, nonmedullary, 4}, 616534 (3)
GPX1	Hemolytic anemia due to glutathione peroxidase deficiency, 614164 (1)
HYDIN	Ciliary dyskinesia, primary, 5, 608647 (3)
MAML2	Mucoepidermoid salivary gland carcinoma (3)
MAP3K1	46XY sex reversal 6, 613762 (3)
MSH3	Endometrial carcinoma, somatic, 608089 (3) Familial adenomatous polyposis 4, 617100 (3)
PIEZO1	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 (3) Lymphatic malformation 6, 616843 (3)
TMIE	Deafness, autosomal recessive 6, 600971 (3)
TRPM4	Progressive familial heart block, type IB, 604559 (3)
WDR81	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3) Hydrocephalus, congenital, 3, with brain anomalies, 617967 (3)

Genes at Clinical Genomics Database

ASCL1, BARD1, CACNA1A, DCHS1, EIF2AK3, FOXE1, MAP3K1, MSH3, PIEZO1, TMIE, TRPM4, WDR81,

ASCL1	Central hypoventilation syndrome, congenital (Haddad syndrome)
BARD1	Breast cancer, susceptibility to
CACNA1A	Episodic ataxia, type 2 Migraine, familial hemiplegic 1
DCHS1	Mitral valve prolapse 2
EIF2AK3	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus Wolcott-Rallison syndrome
FOXE1	Thyroid cancer, nonmedullary 4 Hypothyroidism, thyroidal, with spiky hair and cleft palate (Bamforth-Lazarus syndrome) Congenital hypothyroidism
MAP3K1	46,XY sex reversal 6
MSH3	Endometrial carcinoma
PIEZO1	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
TMIE	Deafness, autosomal recessive 6
TRPM4	Progressive familial heart block, type IB
WDR81	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2

Genes at HGMD

Summary

Number of Variants: 55
Number of Genes: 54

Export to: CSV

Page 1 of 1

Page 1 of 1

AC090616.2
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	mm210202rsv	17	rs759655516,rs754162268 dbSNP Clinvar	30469470	1099.87	CCCG	C	PASS	0/1	11	CODON_DELETION	MODERATE								None None	None None None None	None
ARHGAP39
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	mm210202rsv	8	rs138155129 dbSNP Clinvar	145773341	5432.88	TCTG	T	PASS	0/1	266	CODON_DELETION	MODERATE		0.01777	0.01777	0.05398				None None	None None None None	ARHGAP39\|0.083072421\|54.56%
ASCL1
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	mm210202rsv	12	.	103352171	1635.49	CGCA	C	PASS	0/1	74	CODON_DELETION	MODERATE								None None	None None None None	PAH\|0.397123463\|20.97%,ASCL1\|0.898371145\|3.46%
BARD1
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	mm210202rsv	2	rs28997575 dbSNP Clinvar	215645502	1246.88	GT...	G	PASS	0/1	92	CODON_DELETION	MODERATE		0.04473	0.04473					None None	None None None None	BARD1\|0.230178617\|33.35%
C14orf180
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	mm210202rsv	14	rs111285011,rs750841137,rs11278058,rs569942489 dbSNP Clinvar	105055118	6460.09	TG...	T	PASS	0/1	104	CODON_DELETION	MODERATE		0.60144	0.60140	0.37790				None None	None None None None	TMEM179\|0.016981919\|75.87%,C14orf180\|0.001311006\|93.82%
CABLES1
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	mm210202rsv	18	rs139352344 dbSNP Clinvar	20716014	1233.88	GG...	G	PASS	0/1	55	CODON_DELETION	MODERATE		0.22424	0.22420					None None	None None None None	CABLES1\|0.229324595\|33.42%
CACNA1A
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	mm210202rsv	19	rs16054 dbSNP Clinvar	13318672	946.85	CC...	C,...	PASS	1/2	17	CODON_DELETION	MODERATE								None None	None None None None	CACNA1A\|0.210424701\|35.52%
CACNG8
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	mm210202rsv	19	.	54486013	293.88	CG...	C	PASS	0/1	19	CODON_DELETION	MODERATE								None None	None None None None	CACNG8\|0.019146405\|74.59%
CCDC33
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	mm210202rsv	15	rs10552820,rs35899977,rs397774110 dbSNP Clinvar	74536400	9840.09	TAAG	T	PASS	1/1	113	CODON_DELETION	MODERATE		0.37700	0.37700	0.46150				None None	None None None None	CCDC33\|0.011870787\|79.31%
CD101
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	mm210202rsv	1	rs774648190 dbSNP Clinvar	117564437	1164.88	GAGA	G	PASS	0/1	73	CODON_DELETION	MODERATE								None None	None None None None	CD101\|0.011497644\|79.6%