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Genes:
ABCC2, ABLIM1, ACADSB, ACBD5, ADAM12, ADAMTS14, ADARB2, ADIRF, ADO, ADRB1, AFAP1L2, AGAP4, AGAP5, AGAP6, AGAP7, AGAP8, AIFM2, AKR1C1, AKR1C2, AKR1C3, AKR1C4, AKR1CL1, ALDH18A1, ANK3, ANKRD16, ANKRD2, ANKRD22, ANKRD26, ANKRD30A, ANTXRL, ANXA11, ANXA8L2, APBB1IP, ARHGAP19, ARHGAP21, ARHGAP22, ARMC4, ATE1, ATRNL1, AVPI1, BAG3, BEND7, BICC1, BLNK, BMPR1A, BTBD16, C10ORF68, C10orf107, C10orf11, C10orf113, C10orf12, C10orf120, C10orf128, C10orf53, C10orf54, C10orf62, C10orf67, C10orf71, C10orf90, C10orf95, CALHM1, CALHM3, CALML5, CAMK1D, CAMK2G, CCAR1, CCDC147, CCDC3, CCDC6, CCDC7, CCNJ, CCNY, CCSER2, CDH23, CDHR1, CEP55, CHAT, CHST15, CHST3, CHUK, CNNM1, COL13A1, COL17A1, CPEB3, CPXM2, CSGALNACT2, CTBP2, CTNNA3, CUBN, CUL2, CUTC, CYP26C1, CYP2C18, CYP2C19, CYP2E1, DCLRE1A, DCLRE1C, DDX50, DHTKD1, DIP2C, DKK1, DLG5, DMBT1, DNMBP, DNTT, DOCK1, DPYSL4, DUSP5, DYDC2, EBF3, ECHDC3, ECHS1, EGR2, EIF3A, EIF4EBP2, EIF5AL1, EMX2, ENTPD7, ERCC6, ERCC6-PGBD3, ERLIN1, EXOC6, EXOSC1, FAM170B, FAM171A1, FAM178A, FAM196A, FAM204A, FAM208B, FAM21B, FAM21C, FAM24B, FAM25A, FAM35A, FAS, FGFR2, FRA10AC1, FRG2B, FRMPD2, FUT11, GBF1, GFRA1, GLUD1, GPAM, GPR123, GPR158, GPR26, GPRIN2, GRID1, GRK5, GSTO1, GSTO2, GTPBP4, HABP2, HECTD2, HELLS, HERC4, HK1, HKDC1, HPS1, HPSE2, IDI1, IFIT1, IFIT1B, IFIT2, IFIT5, INPP5A, INPP5F, ITGA8, ITGB1, ITIH2, ITIH5, JAKMIP3, JMJD1C, KAZALD1, KIAA1217, KIAA1462, KIF20B, KNDC1, LGI1, LHPP, LIPA, LIPF, LIPJ, LIPK, LIPN, LOXL4, LRIT1, LRIT2, LRRC18, LRRC27, LYZL1, LYZL2, LZTS2, MASTL, MAT1A, MBL2, MEIG1, MGEA5, MICU1, MKI67, MLLT10, MMRN2, MMS19, MORN4, MPP7, MRPL43, MRPS16, MSRB2, MTG1, MTPAP, MYOF, MYPN, NCOA4, NET1, NEUROG3, NFKB2, NKX2-3, NOC3L, NODAL, NOLC1, NPY4R, NRAP, NRP1, NUTM2A, NUTM2D, OBFC1, OGDHL, OPN4, OPTN, OR13A1, PALD1, PAOX, PARD3, PBLD, PCDH15, PCGF6, PDCD11, PDCD4, PDE6C, PDZD8, PFKP, PHYH, PHYHIPL, PI4K2A, PIK3AP1, PIP4K2A, PITRM1, PITX3, PLAU, PLCE1, PLEKHA1, PLEKHS1, PLXDC2, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, PPAPDC1A, PPRC1, PRAP1, PRDX3, PRKCQ, PRLHR, PRPF18, PRR26, PSTK, PTCHD3, PTER, PTF1A, PTPLA, PTPRE, PWWP2B, PYROXD2, R3HCC1L, RAB11FIP2, RBM20, RET, RGR, RNLS, RRP12, RTKN2, RUFY2, SCD, SEC23IP, SEC24C, SEC31B, SEC61A2, SFMBT2, SFTPA1, SFTPA2, SFTPD, SFXN4, SGMS1, SGPL1, SH2D4B, SH3PXD2A, SKIDA1, SLC16A9, SLC18A2, SLC18A3, SLC25A16, SLC29A3, SLC39A12, SLIT1, SLK, SMC3, SNCG, SORBS1, SORCS1, SORCS3, SPRN, SRGN, ST8SIA6, STAMBPL1, STK32C, STOX1, SUV39H2, SVIL, SYNPO2L, SYT15, TACC2, TACR2, TAF3, TBATA, TBC1D12, TCTN3, TECTB, TET1, TIAL1, TIMM23, TLL2, TMEM180, TMEM236, TMEM72, TRDMT1, TRUB1, TTC40, TUBAL3, TUBB8, TUBGCP2, TYSND1, UCMA, UCN3, UNC5B, USP6NL, VCL, VENTX, VPS26A, VSTM4, VWA2, WAPAL, WBP1L, WDFY4, WDR11, WDR96, WNT8B, ZDHHC16, ZDHHC6, ZFYVE27, ZMYND11, ZNF248, ZNF33A, ZNF33B, ZNF365, ZNF37A, ZNF438, ZNF485, ZNF503, ZRANB1, ZSWIM8, ZWINT,

+ Genes associated with diseases 81

Genes at Omim

ABCC2, ACADSB, ADRB1, AKR1C2, AKR1C4, ALDH18A1, ANK3, ANKRD26, ANXA11, ARMC4, BAG3, BICC1, BLNK, BMPR1A, CDH23, CDHR1, CEP55, CHAT, CHST3, CHUK, COL13A1, COL17A1, CTNNA3, CUBN, CYP26C1, DCLRE1C, DHTKD1, EBF3, ECHS1, EGR2, EMX2, ERCC6, ERLIN1, FAS, FGFR2, GLUD1, HABP2, HELLS, HK1, HPS1, HPSE2, ITGA8, LGI1, LIPA, LIPN, MAT1A, MBL2, MICU1, MRPS16, MTPAP, MYPN, NEUROG3, NFKB2, NODAL, OPTN, PCDH15, PDE6C, PHYH, PITX3, PLAU, PLCE1, PNLIP, PTF1A, RBM20, RET, RGR, SFTPA2, SFXN4, SGPL1, SLC18A2, SLC18A3, SLC29A3, SMC3, STOX1, TCTN3, TUBB8, VCL, WDR11, ZFYVE27, ZMYND11, ZNF365,

ABCC2	Dubin-Johnson syndrome, 237500 (3)
ACADSB	2-methylbutyrylglycinuria, 610006 (3)
ADRB1	[Resting heart rate], 607276 (3) {Congestive heart failure and beta-blocker response, modifier of} (3)
AKR1C2	46XY sex reversal 8, 614279 (3)
AKR1C4	{46XY sex reversal 8, modifier of}, 614279 (3)
ALDH18A1	Cutis laxa, autosomal dominant 3, 616603 (3) Cutis laxa, autosomal recessive, type IIIA, 219150 (3) Spastic paraplegia 9A, autosomal dominant, 601162 (3) Spastic paraplegia 9B, autosomal recessive, 616586 (3)
ANK3	?Mental retardation, autosomal recessive, 37, 615493 (3)
ANKRD26	Thrombocytopenia 2, 188000 (3)
ANXA11	Amytrophic lateral sclerosis 23, 617839 (3)
ARMC4	Ciliary dyskinesia, primary, 23, 615451 (3)
BAG3	Cardiomyopathy, dilated, 1HH, 613881 (3) Myopathy, myofibrillar, 6, 612954 (3)
BICC1	{Renal dysplasia, cystic, susceptibility to}, 601331 (3)
BLNK	?Agammaglobulinemia 4, 613502 (3)
BMPR1A	Juvenile polyposis syndrome, infantile form, 174900 (3) Polyposis syndrome, hereditary mixed, 2, 610069 (3) Polyposis, juvenile intestinal, 174900 (3)
CDH23	Deafness, autosomal recessive 12, 601386 (3) {Pituitary adenoma 5, multiple types}, 617540 (3) Usher syndrome, type 1D, 601067 (3) Usher syndrome, type 1D/F digenic, 601067 (3)
CDHR1	Cone-rod dystrophy 15, 613660 (3) Retinitis pigmentosa 65, 613660 (3)
CEP55	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500 (3)
CHAT	Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)
CHST3	Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 (3)
CHUK	Cocoon syndrome, 613630 (3)
COL13A1	Myasthenic syndrome, congenital, 19, 616720 (3)
COL17A1	Epidermolysis bullosa, junctional, localisata variant, 226650 (3) Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3) Epithelial recurrent erosion dystrophy, 122400 (3)
CTNNA3	Arrhythmogenic right ventricular dysplasia, familial, 13, 615616 (3)
CUBN	Megaloblastic anemia-1, Finnish type, 261100 (3)
CYP26C1	Focal facial dermal dysplasia 4, 614974 (3)
DCLRE1C	Omenn syndrome, 603554 (3) Severe combined immunodeficiency, Athabascan type, 602450 (3)
DHTKD1	2-aminoadipic 2-oxoadipic aciduria, 204750 (3) ?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 (3)
EBF3	Hypotonia, ataxia, and delayed development syndrome, 617330 (3)
ECHS1	Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3)
EGR2	Charcot-Marie-Tooth disease, type 1D, 607678 (3) Hypomyelinating neuropathy, congenital, 1, 605253 (3) Dejerine-Sottas disease, 145900 (3)
EMX2	Schizencephaly, 269160 (3)
ERCC6	Cerebrooculofacioskeletal syndrome 1, 214150 (3) {Lung cancer, susceptibility to}, 211980 (3) {Macular degeneration, age-related, susceptibility to, 5}, 613761 (3) Cockayne syndrome, type B, 133540 (3) De Sanctis-Cacchione syndrome, 278800 (3) Premature ovarian failure 11, 616946 (3) UV-sensitive syndrome 1, 600630 (3)
ERLIN1	Spastic paraplegia 62, 615681 (3)
FAS	Autoimmune lymphoproliferative syndrome, type IA, 601859 (3) Squamous cell carcinoma, burn scar-related, somatic (3) {Autoimmune lymphoproliferative syndrome}, 601859 (3)
FGFR2	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410 (3) Apert syndrome, 101200 (3) Gastric cancer, somatic, 613659 (3) Beare-Stevenson cutis gyrata syndrome, 123790 (3) Bent bone dysplasia syndrome, 614592 (3) Craniofacial-skeletal-dermatologic dysplasia, 101600 (3) Craniosynostosis, nonspecific (3) Crouzon syndrome, 123500 (3) Jackson-Weiss syndrome, 123150 (3) LADD syndrome, 149730 (3) Pfeiffer syndrome, 101600 (3) Saethre-Chotzen syndrome, 101400 (3) Scaphocephaly and Axenfeld-Rieger anomaly (3) Scaphocephaly, maxillary retrusion, and mental retardation, 609579 (3)
GLUD1	Hyperinsulinism-hyperammonemia syndrome, 606762 (3)
HABP2	{Venous thromboembolism, susceptibility to}, 188050 (3) {?Thyroid cancer, nonmedullary, 5}, 616535 (3)
HELLS	Immunodeficiency-centromeric instability-facial anomalies syndrome 4, 616911 (3)
HK1	Hemolytic anemia due to hexokinase deficiency, 235700 (3) Neuropathy, hereditary motor and sensory, Russe type, 605285 (3) Retinitis pigmentosa 79, 617460 (3)
HPS1	Hermansky-Pudlak syndrome 1, 203300 (3)
HPSE2	Urofacial syndrome 1, 236730 (3)
ITGA8	Renal hypodysplasia/aplasia 1, 191830 (3)
LGI1	Epilepsy, familial temporal lobe, 1, 600512 (3)
LIPA	Cholesteryl ester storage disease, 278000 (3) Wolman disease, 278000 (3)
LIPN	Ichthyosis, congenital, autosomal recessive 8, 613943 (3)
MAT1A	Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 (3) Methionine adenosyltransferase deficiency, autosomal recessive, 250850 (3)
MBL2	{Chronic infections, due to MBL deficiency}, 614372 (3)
MICU1	Myopathy with extrapyramidal signs, 615673 (3)
MRPS16	Combined oxidative phosphorylation deficiency 2, 610498 (3)
MTPAP	?Spastic ataxia 4, autosomal recessive, 613672 (3)
MYPN	Cardiomyopathy, dilated, 1KK, 615248 (3) Cardiomyopathy, familial restrictive, 4, 615248 (3) Cardiomyopathy, hypertrophic, 22, 615248 (3) Nemaline myopathy 11, autosomal recessive, 617336 (3)
NEUROG3	Diarrhea 4, malabsorptive, congenital, 610370 (3)
NFKB2	Immunodeficiency, common variable, 10, 615577 (3)
NODAL	Heterotaxy, visceral, 5, 270100 (3)
OPTN	{Glaucoma, normal tension, susceptibility to}, 606657 (3) Amyotrophic lateral sclerosis 12, 613435 (3) Glaucoma 1, open angle, E, 137760 (3)
PCDH15	Deafness, autosomal recessive 23, 609533 (3) Usher syndrome, type 1D/F digenic, 601067 (3) Usher syndrome, type 1F, 602083 (3)
PDE6C	Cone dystrophy 4, 613093 (3)
PHYH	Refsum disease, 266500 (3)
PITX3	Anterior segment dysgenesis 1, multiple subtypes, 107250 (3) Cataract 11, multiple types, 610623 (3) Cataract 11, syndromic, autosomal recessive, 610623 (3)
PLAU	Quebec platelet disorder, 601709 (3) {Alzheimer disease, late-onset, susceptibility to}, 104300 (3)
PLCE1	Nephrotic syndrome, type 3, 610725 (3)
PNLIP	?Pancreatic lipase deficiency, 614338 (3)
PTF1A	Pancreatic agenesis 2, 615935 (3) Pancreatic and cerebellar agenesis, 609069 (3)
RBM20	Cardiomyopathy, dilated, 1DD, 613172 (3)
RET	{Hirschsprung disease, protection against}, 142623 (3) {Hirschsprung disease, susceptibility to, 1}, 142623 (3) Central hypoventilation syndrome, congenital, 209880 (3) Medullary thyroid carcinoma, 155240 (3) Multiple endocrine neoplasia IIA, 171400 (3) Multiple endocrine neoplasia IIB, 162300 (3) Pheochromocytoma, 171300 (3)
RGR	Retinitis pigmentosa 44, 613769 (3)
SFTPA2	Pulmonary fibrosis, idiopathic, 178500 (3)
SFXN4	Combined oxidative phosphorylation deficiency 18, 615578 (3)
SGPL1	Nephrotic syndrome, type 14, 617575 (3)
SLC18A2	?Parkinsonism-dystonia, infantile, 2, 618049 (3)
SLC18A3	Myasthenic syndrome, congenital, 21, presynaptic, 617239 (3)
SLC29A3	Histiocytosis-lymphadenopathy plus syndrome, 602782 (3)
SMC3	Cornelia de Lange syndrome 3, 610759 (3)
STOX1	Preeclampsia/eclampsia 4, 609404 (3)
TCTN3	Joubert syndrome 18, 614815 (3) Orofaciodigital syndrome IV, 258860 (3)
TUBB8	Oocyte maturation defect 2, 616780 (3)
VCL	Cardiomyopathy, dilated, 1W, 611407 (3) Cardiomyopathy, hypertrophic, 15, 613255 (3)
WDR11	Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 (3)
ZFYVE27	Spastic paraplegia 33, autosomal dominant, 610244 (3)
ZMYND11	Mental retardation, autosomal dominant 30, 616083 (3)
ZNF365	{Nephrolithiasis, uric acid, susceptibility to}, 605990 (3)

Genes at Clinical Genomics Database

ABCC2, ACADSB, ADRB1, AKR1C2, ALDH18A1, ANKRD26, ARMC4, BAG3, BICC1, BLNK, BMPR1A, CDH23, CDHR1, CHAT, CHST3, CHUK, COL13A1, COL17A1, CTNNA3, CUBN, CYP26C1, CYP2C19, DCLRE1C, DHTKD1, ECHS1, EGR2, EMX2, ERCC6, ERLIN1, FAS, FGFR2, GLUD1, HABP2, HELLS, HK1, HPS1, HPSE2, ITGA8, LGI1, LIPA, LIPN, MASTL, MAT1A, MBL2, MICU1, MRPS16, MTPAP, MYPN, NEUROG3, NFKB2, NODAL, OPTN, PCDH15, PDE6C, PHYH, PITX3, PLAU, PLCE1, PTF1A, RBM20, RET, RGR, SFTPA2, SFXN4, SLC29A3, SMC3, TCTN3, TUBB8, VCL, WDR11, ZFYVE27, ZMYND11,

ABCC2	Dubin-Johnson syndrome
ACADSB	2-methylbutyryl-CoA dehydrogenase deficiency
ADRB1	Beta-blocker response, association with
AKR1C2	46,XY sex reversal 8
ALDH18A1	Cutis laxa, autosomal dominant 3 Spastic paraplegia 9A, autosomal dominant Cutis laxa, autosomal recessive, type IIIA Spastic paraplegia 9B, autosomal recessive
ANKRD26	Thrombocytopenia 2
ARMC4	Ciliary dyskinesia, primary, 23
BAG3	Cardiomyopathy, dilated, 1HH Myopathy, myofibrillar 6
BICC1	Renal dysplasia, cystic, susceptibility to
BLNK	Agammaglobulinemia 4
BMPR1A	Polyposis syndrome, hereditary mixed, 2 Polyposis, juvenile intestinal
CDH23	Deafness, autosomal recessive 12 Usher syndrome, type 1D Usher syndrome, type 1D /F digenic
CDHR1	Cone-rod dystrophy 15 Retinitis pigmentosa 65
CHAT	Myasthenic syndrome, congenital 6, presynaptic
CHST3	Spondyloepiphyseal dysplasia with congenital joint dislocations
CHUK	Cocoon syndrome
COL13A1	Myasthenic syndrome, congenital, 19
COL17A1	Epithelial recurrent erosion dystrophy (ERED) Epidermolysis bullosa, junctional, non-Herlitz type
CTNNA3	Arrhythmogenic right ventricular dysplasia, familial, 13
CUBN	Megaloblastic anemia-1, Finnish type
CYP26C1	Focal facial dermal dysplasia 4
CYP2C19	Drug metabolism, CYP2C19-related
DCLRE1C	Omenn syndrome Severe combined immunodeficiency with sensitivity to ionizing radiation
DHTKD1	Charcot-Marie-Tooth disease, type 2Q 2-aminoadipic and 2-oxoadipic aciduria
ECHS1	Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
EGR2	Charcot-Marie-Tooth disease, demyelinating, type 1D Neuropathy, congenital hypomyelinating, 1 Dejerine-Sottas disease
EMX2	Schizencephaly
ERCC6	Xeroderma Pigmentosum-Cockayne Syndrome De Sanctis-Cacchione syndrome Premature ovarian failure 11 (AD)
ERLIN1	Spastic paraplegia 62, autosomal recessive
FAS	Autoimmune lymphoproliferative syndrome, type IA
FGFR2	Lacrimoauriculodentodigital syndrome Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis Sraniofacial-skeletal-dermatological dysplasia Crouzon syndrome Jackson-Weiss syndrome Pfeiffer syndrome Apert syndrome Beare-Stevenson cutis gyrata syndrome
GLUD1	Hyperinsulinemic hypoglycemia, familial Hyperammonemia-hyperinsulinism
HABP2	Thyroid cancer, nonmedullary 5
HELLS	Immunodeficiency-centromeric instability-facial anomalies syndrome 4
HK1	Hemolytic anemia, nonspherocytic, due to hexokinase deficiency
HPS1	Hermansky-Pudlak syndrome 1
HPSE2	Ochoa syndrome Urofacial syndrome 1
ITGA8	Renal agenesis, bilateral
LGI1	Epilepsy, familial temporal lobe, 1
LIPA	Cholesterol ester storage disease Wolman disease
LIPN	Ichthyosis, congenital, autosomal recessive 8
MASTL	Thrombocytopenia 2
MAT1A	Methionine adenosyltransferase deficiency
MBL2	Mannose-binding protein deficiency
MICU1	Myopathy with extrapyramidal signs
MRPS16	Combined oxidative phosphorylation deficiency 2
MTPAP	Spastic ataxia 4, autosomal recessive
MYPN	Cardiomyopathy, dilated, 1KK Cardiomyopathy, familial hypertrophic, 22 Cardiomyopathy, familial restrictive, 4
NEUROG3	Diarrhea 4, malabsorptive, congenital
NFKB2	Immunodeficiency, common variable, 10
NODAL	Heterotaxy, visceral, 5
OPTN	Glaucoma, normal tension, susceptibility to Glaucoma 1, open angle, E
PCDH15	Deafness, autosomal recessive 23 Usher syndrome, type 1F Usher syndrome, type 1D/F, digenic
PDE6C	Cone dystrophy 4
PHYH	Refsum disease
PITX3	Cataract, posterior polar, 4 Cataract, congenital Cataract, posterior polar 4, syndromic Anterior segment mesenchymal dysgenesis
PLAU	Quebec platelet disorder
PLCE1	Nephrotic syndrome, type 3
PTF1A	Pancreatic and cerebellar agenesis Pancreatic agenesis 2
RBM20	Cardiomyopathy, dilated, 1DD
RET	Central hypoventilation syndrome, congenital Multiple endocrine neoplasia, type IIA Multiple endocrine neoplasia IIB Medullary thyroid carcinoma, familial Pheochromocytoma Hirschsprung disease, susceptibility to 1
RGR	Retinitis pigmentosa 44
SFTPA2	Pulmonary fibrosis, idiopathic
SFXN4	Combined oxidative phosphorylation deficiency 18
SLC29A3	Histiocytosis-lymphadenopathy plus syndrome
SMC3	Cornelia de Lange syndrome 3
TCTN3	Joubert syndrome 18 Orofaciodigital syndrome IV (Mohr-Majewski syndrome)
TUBB8	Oocyte maturation defect 2
VCL	Cardiomyopathy, familial hypertrophic 15 Cardiomyopathy, dilated, 1W
WDR11	Hypogonadotropic hypogonadism Kallmann syndrome
ZFYVE27	Spastic paraplegia 33, autosomal dominant
ZMYND11	Mental retardation, autosomal domianant, 30

Genes at HGMD

Summary

Number of Variants: 2254
Number of Genes: 372

Export to: CSV

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ABCC2
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	grc14378021_exome	10	rs3740066 dbSNP Clinvar	101604207	1484.13	C	T	.	0/1	42	SYNONYMOUS_CODING	LOW	None	0.28814	0.28810	0.33354				None None	None None None None	ABCC2\|0.186653982\|38.2%
	View	grc14378021_exome	10	rs1137968 dbSNP Clinvar	101606861	1009.19	G	T	.	0/1	32	SYNONYMOUS_CODING	LOW	None	0.03814	0.03814	0.06151				None None	None None None None	ABCC2\|0.186653982\|38.2%
	View	grc14378021_exome	10	rs8187710 dbSNP Clinvar	101611294	276.115	G	A	.	0/1	26	NON_SYNONYMOUS_CODING	MODERATE	None	0.06789	0.06789	0.09419	0.35	0.00		None None	None None None None	ABCC2\|0.186653982\|38.2%
	View	grc14378021_exome	10	rs8187707 dbSNP Clinvar	101610533	26.2054	C	T	.	0/1	12	SYNONYMOUS_CODING	LOW	None	0.03095	0.03095	0.05321				None None	None None None None	ABCC2\|0.186653982\|38.2%
	View	grc14378021_exome	10	rs927344 dbSNP Clinvar	101544447	1484.13	A	T	.	1/1	76	NON_SYNONYMOUS_CODING	MODERATE	None	0.99461	0.99460	0.00654	1.00	0.00		None None	None None None None	ABCC2\|0.186653982\|38.2%
	View	grc14378021_exome	10	rs2273697 dbSNP Clinvar	101563815	34.8336	G	A	.	0/1	21	NON_SYNONYMOUS_CODING	MODERATE	None	0.18650	0.18650	0.19214	0.15	0.04		None None	None None None None	ABCC2\|0.186653982\|38.2%
	View	grc14378021_exome	10	rs777225633 dbSNP Clinvar	101590086	461.345	A	C	.	0/1	41	NON_SYNONYMOUS_CODING	MODERATE	None				0.28	0.01		None None	None None None None	ABCC2\|0.186653982\|38.2%
	View	grc14378021_exome	10	rs17222723 dbSNP Clinvar	101595996	1484.13	T	A	.	0/1	95	NON_SYNONYMOUS_CODING	MODERATE	None	0.03734	0.03734	0.06097	1.00	0.01		None None	None None None None	ABCC2\|0.186653982\|38.2%
ABLIM1
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	grc14378021_exome	10	rs2247528 dbSNP Clinvar	116307504	1484.13	A	G	.	1/1	37	SYNONYMOUS_CODING	LOW	None	0.78315	0.78310	0.20821				None None	None None None None	ABLIM1\|0.44358146\|18.51%
	View	grc14378021_exome	10	rs376850020 dbSNP Clinvar	116227970	1484.13	C	T	.	0/1	49	SYNONYMOUS_CODING	LOW	None	0.00399	0.00399	0.00008				None None	None None None None	ABLIM1\|0.44358146\|18.51%
	View	grc14378021_exome	10	rs985273 dbSNP Clinvar	116335246	1484.13	G	A	.	1/1	85	SYNONYMOUS_CODING	LOW	None	0.30451	0.30450	0.26695				None None	None None None None	ABLIM1\|0.44358146\|18.51%
ACADSB
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	grc14378021_exome	10	rs1140591 dbSNP Clinvar	124800853	1484.13	C	T	.	0/1	64	SYNONYMOUS_CODING	LOW	None	0.22784	0.22780	0.22813				None None	None None None None	ACADSB\|0.041043879\|65.42%
ACBD5
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	grc14378021_exome	10	rs10764690 dbSNP Clinvar	27508758	1484.13	T	C	.	0/1	115	SYNONYMOUS_CODING	LOW	None	0.31789	0.31790	0.39382				None None	None None None None	ACBD5\|0.116795914\|47.98%
ADAM12
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	grc14378021_exome	10	rs3740199 dbSNP Clinvar	128019025	1484.13	C	G	.	1/1	99	NON_SYNONYMOUS_CODING	MODERATE	None	0.00140	0.00140	0.42803	0.33	0.00		None None	None None None None	ADAM12\|0.075293986\|56.23%
	View	grc14378021_exome	10	rs34265990 dbSNP Clinvar	127730728	1484.13	C	T	.	0/1	109	None	None	None	0.17931	0.17930	0.07658				None None	None None None None	ADAM12\|0.075293986\|56.23%
	View	grc14378021_exome	10	rs2279091 dbSNP Clinvar	127753388	1484.13	C	T	.	1/1	76	SYNONYMOUS_CODING	LOW	None	0.07548	0.07548	0.09920				None None	None None None None	ADAM12\|0.075293986\|56.23%
ADAMTS14
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	grc14378021_exome	10	rs10823616 dbSNP Clinvar	72520567	1484.13	A	G	.	0/1	75	SYNONYMOUS_CODING	LOW	None	0.24301	0.24300	0.25365				None None	None None None None	ADAMTS14\|0.04385867\|64.56%
	View	grc14378021_exome	10	rs10823607 dbSNP Clinvar	72500763	1484.13	T	C	.	1/1	75	NON_SYNONYMOUS_CODING	MODERATE	None	0.79992	0.79990	0.19168	0.32	0.00		None None	None None None None	ADAMTS14\|0.04385867\|64.56%
	View	grc14378021_exome	10	rs10999500 dbSNP Clinvar	72500863	1484.13	C	G	.	0/1	102	SYNONYMOUS_CODING	LOW	None	0.66713	0.66710	0.38190				None None	None None None None	ADAMTS14\|0.04385867\|64.56%
	View	grc14378021_exome	10	rs12774070 dbSNP Clinvar	72513635	1484.13	C	A	.	0/1	76	NON_SYNONYMOUS_CODING	MODERATE	None	0.16014	0.16010	0.19512	0.01	0.93		None None	None None None None	ADAMTS14\|0.04385867\|64.56%
	View	grc14378021_exome	10	rs2587475 dbSNP Clinvar	72513682	1484.13	C	T	.	1/1	56	SYNONYMOUS_CODING	LOW	None	0.52516	0.52520	0.45384				None None	None None None None	ADAMTS14\|0.04385867\|64.56%
	View	grc14378021_exome	10	rs6480463 dbSNP Clinvar	72517837	1484.13	C	T	.	1/1	39	SYNONYMOUS_CODING	LOW	None	0.51697	0.51700	0.42903				None None	None None None None	ADAMTS14\|0.04385867\|64.56%