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

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Genes:
ACACB, ACADS, ACAP1, ACTN4, ADA, ADCK3, ADSS, AIM2, AK2, AK4, AKR1C1, ALKBH3, ALOX15B, APC, APOBEC3G, AQP2, ARSB, ASPA, BARD1, CAPN9, CBR3, CD180, CHI3L1, CHI3L2, CHIA, COMT, CRYBA4, CYP11B2, CYP2B6, CYP2D6, DAO, DHRS4, DNM1, DOCK2, DPP6, DPYSL2, DUSP12, ECHDC3, EGFR, ENPP4, EPHB3, EPHX2, ERAP1, ERAP2, ESRRA, FAN1, FDFT1, FGF20, GALK2, GAPDH, GBE1, GBP1, GNAI3, GRK6, HAAO, HK2, HPN, HSPA2, HSPA6, IGHMBP2, IL34, ILK, ISG15, KDM2A, KPNA2, LCN15, LGALS8, LGR5, LRP6, MAP3K8, MIOX, MUS81, NCF2, NET1, NEU2, NLRX1, NQO1, NT5M, PAK4, PCK1, PCSK9, PDCD6, PDE1B, PDE4B, PDLIM5, PFKP, PIK3CG, PLA2G7, PNKP, PNP, PNPT1, POLRMT, PPP2R1A, PRMT6, PSAT1, PTGR2, PTPN6, RAD1, RBBP4, REM1, RIPK1, RMI2, RNF8, ROS1, RPA1, RRM1, SCN5A, SERPINB2, SERPINB5, SLK, SND1, SUFU, SUPT5H, SYK, TARS, TBP, THEM5, TIRAP, TLR10, TLR3, TNFRSF6B, TNKS2, TP73, TRDMT1, UBE2S, WARS, XYLB,

+ Genes associated with diseases 48

Genes at Omim

ACADS, ACTN4, ADA, ADCK3, AK2, APC, AQP2, ARSB, ASPA, BARD1, CHI3L1, COMT, CRYBA4, CYP11B2, CYP2B6, CYP2D6, DNM1, DOCK2, DPP6, EGFR, EPHX2, FAN1, FDFT1, FGF20, GBE1, GNAI3, HAAO, IGHMBP2, ISG15, LRP6, MAP3K8, NCF2, NQO1, PCK1, PCSK9, PLA2G7, PNKP, PNP, PNPT1, PPP2R1A, PSAT1, RIPK1, SCN5A, SUFU, TBP, TIRAP, TLR3, WARS,

ACADS	Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3)
ACTN4	Glomerulosclerosis, focal segmental, 1, 603278 (3)
ADA	Adenosine deaminase deficiency, partial, 102700 (3) Severe combined immunodeficiency due to ADA deficiency, 102700 (3)
ADCK3	Coenzyme Q10 deficiency, primary, 4, 612016 (3)
AK2	Reticular dysgenesis, 267500 (3)
APC	Adenoma, periampullary, somatic (3) Adenomatous polyposis coli, 175100 (3) Gardner syndrome, 175100 (3) Gastric cancer, somatic, 613659 (3) Brain tumor-polyposis syndrome 2, 175100 (3) Hepatoblastoma, somatic, 114550 (3) Colorectal cancer, somatic, 114500 (3) Desmoid disease, hereditary, 135290 (3)
AQP2	Diabetes insipidus, nephrogenic, 125800 (3)
ARSB	Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3)
ASPA	Canavan disease, 271900 (3)
BARD1	{Breast cancer, susceptibility to}, 114480 (3)
CHI3L1	{Schizophrenia, susceptibility to}, 181500 (3) {Asthma-related traits, susceptibility to, 7}, 611960 (3)
COMT	{Panic disorder, susceptibility to}, 167870 (3) {Schizophrenia, susceptibility to}, 181500 (3)
CRYBA4	Cataract 23, 610425 (3)
CYP11B2	Aldosterone to renin ratio raised (3) {Low renin hypertension, susceptibility to} (3) Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3) Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 (3)
CYP2B6	Efavirenz, poor metabolism of, 614546 (3) {Efavirenz central nervous system toxicity, susceptibility to}, 614546 (3)
CYP2D6	{Codeine sensitivity}, 608902 (3) {Debrisoquine sensitivity}, 608902 (3)
DNM1	Epileptic encephalopathy, early infantile, 31, 616346 (3)
DOCK2	Immunodeficiency 40, 616433 (3)
DPP6	{Ventricular fibrillation, paroxysmal familial, 2}, 612956 (3) Mental retardation, autosomal dominant 33, 616311 (3)
EGFR	Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3) {Nonsmall cell lung cancer, susceptibility to}, 211980 (3) ?Inflammatory skin and bowel disease, neonatal, 2, 616069 (3) Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3)
EPHX2	{Hypercholesterolemia, familial, due to LDLR defect, modifier of}, 143890 (3)
FAN1	Interstitial nephritis, karyomegalic, 614817 (3)
FDFT1	Squalene synthase deficiency, 618156 (3)
FGF20	?Renal hypodysplasia/aplasia 2, 615721 (3)
GBE1	Glycogen storage disease IV, 232500 (3) Polyglucosan body disease, adult form, 263570 (3)
GNAI3	Auriculocondylar syndrome 1, 602483 (3)
HAAO	Vertebral, cardiac, renal, and limb defects syndrome 1, 617660 (3)
IGHMBP2	Charcot-Marie-Tooth disease, axonal, type 2S, 616155 (3) Neuronopathy, distal hereditary motor, type VI, 604320 (3)
ISG15	Immunodeficiency 38, 616126 (3)
LRP6	Tooth agenesis, selective, 7, 616724 (3) {Coronary artery disease, autosomal dominant, 2}, 610947 (3)
MAP3K8	Lung cancer, somatic, 211980 (3)
NCF2	Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3)
NQO1	{Leukemia, post-chemotherapy, susceptibility to} (3) {Benzene toxicity, susceptibility to} (3) {Breast cancer, poor survival after chemotherapy for} (3)
PCK1	?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 (3)
PCSK9	{Low density lipoprotein cholesterol level QTL 1}, 603776 (3) Hypercholesterolemia, familial, 3, 603776 (3)
PLA2G7	Platelet-activating factor acetylhydrolase deficiency, 614278 (3) {Asthma, susceptibility to}, 600807 (3) {Atopy, susceptibility to}, 147050 (3)
PNKP	Ataxia-oculomotor apraxia 4, 616267 (3) Microcephaly, seizures, and developmental delay, 613402 (3)
PNP	Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 (3)
PNPT1	Combined oxidative phosphorylation deficiency 13, 614932 (3) Deafness, autosomal recessive 70, 614934 (3)
PPP2R1A	Mental retardation, autosomal dominant 36, 616362 (3)
PSAT1	Neu-Laxova syndrome 2, 616038 (3) ?Phosphoserine aminotransferase deficiency, 610992 (3)
RIPK1	Immunodeficiency 57, 618108 (3)
SCN5A	Atrial fibrillation, familial, 10, 614022 (3) Brugada syndrome 1, 601144 (3) Cardiomyopathy, dilated, 1E, 601154 (3) Heart block, nonprogressive, 113900 (3) Heart block, progressive, type IA, 113900 (3) Long QT syndrome-3, 603830 (3) {Sudden infant death syndrome, susceptibility to}, 272120 (3) Sick sinus syndrome 1, 608567 (3) Ventricular fibrillation, familial, 1, 603829 (3)
SUFU	Basal cell nevus syndrome, 109400 (3) {Meningioma, familial, susceptibility to}, 607174 (3) Joubert syndrome 32, 617757 (3) Medulloblastoma, desmoplastic, 155255 (3)
TBP	{Parkinson disease, susceptibility to}, 168600 (3) Spinocerebellar ataxia 17, 607136 (3)
TIRAP	{Malaria, protection against}, 611162 (3) {Pneumococcal disease, invasive, protection against}, 610799 (3) {Tuberculosis, protection against}, 607948 (3) {Bacteremia, protection against}, 614382 (3)
TLR3	{HIV1 infection, resistance to}, 609423 (3) {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2}, 613002 (3)
WARS	Neuronopathy, distal hereditary motor, type IX, 617721 (3)

Genes at Clinical Genomics Database

ACADS, ACTN4, ADA, ADCK3, AK2, APC, AQP2, ARSB, ASPA, BARD1, COMT, CRYBA4, CYP11B2, CYP2B6, CYP2D6, DNM1, DOCK2, DPP6, EGFR, FAN1, FGF20, GBE1, GNAI3, IGHMBP2, ISG15, LRP6, NCF2, PCSK9, PLA2G7, PNKP, PNP, PNPT1, PPP2R1A, PSAT1, SCN5A, SUFU, TBP, TLR3,

ACADS	Acyl-CoA dehydrogenase, short-chain, deficiency of
ACTN4	Focal segmental glomerulosclerosis 1
ADA	Severe combined immunodeficiency due to adenosine deaminase deficiency
ADCK3	Coenzyme Q10 deficiency Progressive cerebellar ataxia and atrophy Spinocerebellar ataxia 9
AK2	Reticular dysgenesis
APC	Familial adenomatous polyposis Gardner syndrome Desmoid disease, hereditary
AQP2	Diabetes insipidus, nephrogenic, autosomal
ARSB	Mucopolysaccharidosis type VI (Maroteaux-Lamy)
ASPA	Aspartoacylase deficiency (Canavan disease)
BARD1	Breast cancer, susceptibility to
COMT	Medication response, association with
CRYBA4	Cataract 23
CYP11B2	Corticosterone methyloxidase type I deficiency Corticosterone methyloxidase type II deficiency Glucocorticoid-remediable aldosteronism
CYP2B6	Efavirenz, poor metabolism of
CYP2D6	Drug metabolism, CYP2CD6-related
DNM1	Epileptic encephalopathy, early infantile 31
DOCK2	Immunodeficiency 40
DPP6	Ventricular fibrillation, paroxysmal familial, 2
EGFR	Acute myeloid leukemia, familial Lung cancer, familial, susceptibilty to Inflammatory skin and bowel disease, neonatal, 2
FAN1	Interstitial nephritis, karyomegalic
FGF20	Renal hypodysplasia/aplasia 2
GBE1	Glycogen storage disease IV
GNAI3	Auriculocondylar syndrome 1
IGHMBP2	Spinal muscular atrophy, distal, autosomal recessive, 1 Charcot-Marie-Tooth disease, axonal, type 2S
ISG15	Immunodeficiency 38, with basal ganglia calcification
LRP6	Coronary artery disease, autosomal dominant 2
NCF2	Chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type II
PCSK9	Hypercholesterolemia, familial, 3
PLA2G7	Platelet-activating factor acetylhydrolase deficiency
PNKP	Ataxia-oculomotor apraxia-4 Epileptic encephalopathy, early infantile, 10
PNP	Purine nucleoside phosphorylase deficiency
PNPT1	Deafness, autosomal recessive 70
PPP2R1A	Mental retardation, autosomal dominant 36
PSAT1	Phosphoserine aminotransferase deficiency
SCN5A	Atrial fibrillation, familial 10 Long QT syndrome 3 Idiopathic ventricular fibrillation Heart block, progressive, type IA Heart block, nonprogressive Sick sinus syndrome 1, autosomal recessive Cardiomyopathy, dilated, 1E Brugada syndrome 1 Ventricular fibrillation, familial 1
SUFU	Medulloblastoma Basal cell nevus syndrome
TBP	Spinocerebellar ataxia 17
TLR3	Herpes simplex encephalitis, susceptibility to, 2

Genes at HGMD

Summary

Number of Variants: 158
Number of Genes: 127

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POLRMT
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	gg_mutation_report	19	.	621568	0.0	GT...	G	PASS	0/1	13	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH	None							None None	None None None None	POLRMT\|0.002405842\|89.88%
TNKS2
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	gg_mutation_report	10	.	93601172	0.0	A	T	flt	0/1	43	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH	None				0.08	1.00		None None	None None None None	TNKS2\|0.624081341\|11.01%
NT5M
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	gg_mutation_report	17	.	17207119	0.0	G	T	flt	0/1	6	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH	None							None None	None None None None	NT5M\|0.064754596\|58.7%
UBE2S
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	gg_mutation_report	19	.	55913102	0.0	T	G	flt	0/1	8	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH	None				0.16	1.00		None None	None None None None	RPL28\|0.029208701\|69.77%,UBE2S\|0.631233815\|10.73%
SCN5A
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	gg_mutation_report	3	.	38592536	0.0	C	T	PASS	0/1	246	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH	None				0.76	0.97		None None	None None None None	SCN5A\|0.505326843\|15.55%
PAK4
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	gg_mutation_report	19	.	39664593	0.0	G	A	PASS	0/1	10	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH	None							None None	None None None None	PAK4\|0.096313181\|51.87%
FGF20
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	gg_mutation_report	8	.	16859282	0.0	C	A	flt	0/1	15	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH	None				0.00	0.99		None None	None None None None	FGF20\|0.415965664\|19.8%
ARSB
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	gg_mutation_report	5	.	78280860	0.0	T	A	PASS	0/1	10	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH	None				0.22	0.01		None None	None None None None	ARSB\|0.08485524\|54.24%
PAK4
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	gg_mutation_report	19	.	39664600	0.0	AA	A	flt	0/1	8	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH	None				0.00	0.54		None None	None None None None	PAK4\|0.096313181\|51.87%
HK2
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	gg_mutation_report	2	rs10194657 dbSNP Clinvar	75115108	0.0	A	G	PASS	1/1	59	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH	None	0.52416	0.52420	0.42842				None None	None None None None	HK2\|0.435064932\|18.94%