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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
ABHD14A, ACTL7A, ADAMTS18, ALDH3B2, ALG5, ANXA6, AQP7, BEAN1, CACNA1G, CARS2, CCDC142, CCDC88A, CDH5, CELSR3, CEP192, CERS1, CHD9, CLEC4A, CYP2F1, DEFB119, DUX4L4, EML2, GLTP, GOLGA6L6, GRK1, GXYLT1, HIP1R, HSPG2, IGFBP4, IL19, KCNJ10, KDM8, KIAA1024, KIAA1432, LCMT1, LGALS3, LILRB1, LONRF1, MAP4K3, MN1, MPZ, MT-ATP6, MT-ATP8, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6, NFATC4, NOA1, NPEPPS, OPA1, OR5B2, OSBPL8, PAM16, PDPR, PPP2R5E, PRDM15, PXT1, RAPGEF1, RC3H1, RFX3, RP11-1407O15.2, RPH3A, RTN4, RYR2, SDC1, SDK1, SH2B1, SPAG17, SPIRE2, SYT4, TIGD1, TJP1, TMPRSS13, TOP2B, TRBV10-1, TRPM2, YBX2, ZBTB32, ZNF236, ZNF264, ZNF334, ZNF541,

+ Genes associated with diseases 14

Genes at Omim

ADAMTS18, AQP7, CACNA1G, CARS2, CCDC88A, CERS1, GRK1, HSPG2, KCNJ10, MN1, MPZ, OPA1, PAM16, RYR2,

ADAMTS18	Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458 (3)
AQP7	[Glycerol quantitative trait locus], 614411 (3)
CACNA1G	Spinocerebellar ataxia 42, 616795 (3) Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087 (3)
CARS2	Combined oxidative phosphorylation deficiency 27, 616672 (3)
CCDC88A	?PEHO syndrome-like, 617507 (3)
CERS1	?Epilepsy, progressive myoclonic, 8, 616230 (3)
GRK1	Oguchi disease-2, 613411 (3)
HSPG2	Dyssegmental dysplasia, Silverman-Handmaker type, 224410 (3) Schwartz-Jampel syndrome, type 1, 255800 (3)
KCNJ10	Enlarged vestibular aqueduct, digenic, 600791 (3) SESAME syndrome, 612780 (3)
MN1	Meningioma, 607174 (3)
MPZ	Charcot-Marie-Tooth disease, dominant intermediate D, 607791 (3) Charcot-Marie-Tooth disease, type 1B, 118200 (3) Charcot-Marie-Tooth disease, type 2I, 607677 (3) Charcot-Marie-Tooth disease, type 2J, 607736 (3) Dejerine-Sottas disease, 145900 (3) Hypomyelinating neuropathy, congenital, 2, 618184 (3) Roussy-Levy syndrome, 180800 (3)
OPA1	Behr syndrome, 210000 (3) {Glaucoma, normal tension, susceptibility to}, 606657 (3) Optic atrophy 1, 165500 (3) Optic atrophy plus syndrome, 125250 (3) ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), 616896 (3)
PAM16	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, 613320 (3)
RYR2	Arrhythmogenic right ventricular dysplasia 2, 600996 (3) Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 (3)

Genes at Clinical Genomics Database

ADAMTS18, BEAN1, CACNA1G, CARS2, CERS1, GRK1, HSPG2, KCNJ10, MN1, MPZ, MT-ATP6, MT-ATP8, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6, OPA1, PAM16, RYR2,

ADAMTS18	Knobloch syndrome 2 Microcornea, myopic chorioretinal atrophy, and telecanthus Retinal dystrophy, early onset, autosomal recessive
BEAN1	Spinocerebellar ataxia 31
CACNA1G	Spinocerebellar ataxia 42
CARS2	Combined oxidative phosphorylation deficiency 27
CERS1	Epilepsy, progressive myoclonic 8
GRK1	Oguchi disease 2
HSPG2	Schwartz-Jampel syndrome, type 1
KCNJ10	Enlarged vestibular aqueduct, digenic Pendred syndrome, digenic Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAME syndrome)
MN1	Meningioma, familial
MPZ	Charcot-Marie-Tooth disease, dominant intermediate 3 Charcot-Marie-Tooth disease, axonal, type 2J Charcot-Marie-Tooth disease, axonal, type 2I Neuropathy, congenital hypomyelinating Roussy-Levy syndrome Dejerine-Sottas disease Charcot-Marie-Tooth disease, type 1B
MT-ATP6	Myopathy, lactic acidosis, and sideroblastic anemia 3
MT-ATP8	Brain pseudoatrophy, reversible, valproate-induced, susceptibility to
MT-CO2	Cytochrome c oxidase deficiency
MT-CO3	Myoglobinuria, recurrent
MT-ND1	Deafness, mitochondrial
MT-ND2	Leber hereditary optic neuropathy Mitochondrial complex I deficiency
MT-ND3	Leber optic atrophy and dystonia Mitochondrial complex I deficiency
MT-ND4	Leber hereditary optic neuropathy Leber optic atrophy and dystonia Mitochondrial complex I deficiency
MT-ND5	Myoclonic epilepsy with ragged red fibers Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes Leber hereditary optic neuropathy Mitochondrial complex I deficiency
MT-ND6	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes Oncocytoma Leber hereditary optic neuropathy Leber optic atrophy and dystonia Mitochondrial complex I deficiency
OPA1	Glaucoma, normal tension, susceptibility to
PAM16	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type
RYR2	Ventricular tachycardia, catecholaminergic polymorphic, 1 Arrhythmogenic right ventricular dysplasia 2

Genes at HGMD

Summary

Number of Variants: 786
Number of Genes: 88

Export to: CSV

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ABHD14A
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	15001702300578a snp-1	3	.	52011999	1860.77	G	A	PASS	0/1	134	NON_SYNONYMOUS_CODING	MODERATE	None				0.24	0.01	2.35	0.02 0.4273 T	None None None None	ABHD14B\|0.111110398\|49%,ABHD14A\|0.036596128\|66.94%,ABHD14A-ACY1\|0.089304013\|53.38%,ACY1\|0.065235845\|58.58%
ACTL7A
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	15001702300578a snp-1	9	.	111625681	3104.77	T	C	PASS	0/1	154	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	1.00	4.90	0.06 0.6837 D	None None None None	ACTL7A\|0.047459247\|63.47%
	View	15001702300578a snp-1	9	.	111625682	3104.77	C	T	PASS	0/1	153	SYNONYMOUS_CODING	LOW	None							None None	None None None None	ACTL7A\|0.047459247\|63.47%
ADAMTS18
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	15001702300578a snp-1	16	.	77389948	4165.77	C	T	PASS	0/1	259	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	1.00	6.88	0.22 0.87636 D	None None None None	ADAMTS18\|0.112557021\|48.75%
ALDH3B2
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	15001702300578a snp-1	11	.	67432819	1116.77	C	A	PASS	0/1	100	NON_SYNONYMOUS_CODING	MODERATE	None				0.35	0.10	1.90	0.07 0.7169 D	None None None None	ALDH3B2\|0.012437844\|78.93%
ALG5
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	15001702300578a snp-1	13	.	37569630	3615.77	G	T	PASS	0/1	332	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	0.95	5.57	0.10 0.76498 D	None None None None	ALG5\|0.379390793\|22.12%
ANXA6
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	15001702300578a snp-1	5	.	150509021	3731.77	T	A	PASS	0/1	262	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	0.59	6.75	0.14 0.8223 D	None None None None	ANXA6\|0.284174792\|28.78%
AQP7
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	15001702300578a snp-1	9	.	33401257	1403.77	C	T	PASS	0/1	123	NON_SYNONYMOUS_CODING	MODERATE	None				0.48	0.00	-1.82	0.02 0.38138 T	None None None None	AQP7\|0.012677613\|78.76%
BEAN1
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	15001702300578a snp-1	16	.	66514729	2282.77	C	G	PASS	0/1	139	SYNONYMOUS_CODING	LOW	None							None None	None None None None	BEAN1\|0.014751978\|77.33%
CACNA1G
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	15001702300578a snp-1	17	.	48638844	155.77	G	C	PASS	0/1	22	SYNONYMOUS_CODING	LOW	None							None None	None None None None	CACNA1G\|0.364374297\|23.14%
CARS2
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