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:
AC012123.1, ADCYAP1, ADNP2, AFG3L2, ALPK2, ANKRD12, ANKRD30B, ANKRD62, AP005482.1, ARHGAP28, ASXL3, ATP5A1, ATP8B1, ATP9B, BOD1L2, C18orf25, C18orf54, C18orf63, C18orf8, CABLES1, CABYR, CBLN2, CCDC102B, CCDC178, CCDC68, CDH19, CDH2, CDH20, CDH7, CEP192, CIDEA, CLUL1, CNDP1, CNDP2, COLEC12, CTAGE1, CTDP1, CTIF, CXXC1, DCC, DOK6, DSC1, DSEL, DSG1, DSG2, DSG3, DSG4, DTNA, DYNAP, ELP2, EMILIN2, EPB41L3, EPG5, ESCO1, FAM69C, FECH, FHOD3, GALR1, GAREM, GNAL, GREB1L, GTSCR1, HSBP1L1, IMPACT, KATNAL2, KCNG2, KDSR, KIAA1468, KLHL14, LAMA1, LAMA3, LDLRAD4, LINC00908, LOXHD1, MBD1, MBP, ME2, MEP1B, METTL4, MEX3C, MOCOS, MPPE1, MRO, MYO5B, MYOM1, NARS, NDUFV2, NETO1, NFATC1, NPC1, ONECUT2, OSBPL1A, PHLPP1, PIEZO2, PIGN, PMAIP1, POLI, POTEC, PPP4R1, PQLC1, PSMG2, PTPRM, RAB27B, RBFA, RIT2, RNF165, RP11-17M16.1, RP11-683L23.1, RP11-861L17.3, RPRD1A, RTTN, SALL3, SEH1L, SERPINB10, SERPINB11, SERPINB13, SERPINB2, SERPINB3, SERPINB4, SERPINB5, SERPINB7, SERPINB8, SETBP1, SIGLEC15, SKA1, SKOR2, SLC14A1, SLC14A2, SLC25A52, SLC39A6, SMAD4, SMCHD1, SOCS6, SOGA2, ST8SIA3, TAF4B, TCEB3B, TCEB3C, TCF4, TGIF1, TMEM200C, TMEM241, TNFRSF11A, TRAPPC8, TTC39C, TWSG1, TXNDC2, WDR7, YES1, ZADH2, ZBTB14, ZBTB7C, ZCCHC2, ZNF236, ZNF24, ZNF397, ZNF407, ZNF516, ZNF519,

+ Genes associated with diseases 37

Genes at Omim

AFG3L2, ASXL3, ATP5A1, ATP8B1, CTDP1, DCC, DSG1, DSG2, DSG4, DTNA, ELP2, EPG5, FECH, GNAL, GREB1L, KDSR, LAMA1, LAMA3, LOXHD1, MOCOS, MYO5B, NDUFV2, NPC1, NPC1, PIEZO2, PIGN, RTTN, SERPINB7, SERPINB8, SETBP1, SLC14A1, SMAD4, SMCHD1, TAF4B, TCF4, TGIF1, TNFRSF11A,

AFG3L2	Spastic ataxia 5, autosomal recessive, 614487 (3) Spinocerebellar ataxia 28, 610246 (3)
ASXL3	Bainbridge-Ropers syndrome, 615485 (3)
ATP5A1	?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, 615228 (3) ?Combined oxidative phosphorylation deficiency 22, 616045 (3)
ATP8B1	Cholestasis, benign recurrent intrahepatic, 243300 (3) Cholestasis, intrahepatic, of pregnancy, 1, 147480 (3) Cholestasis, progressive familial intrahepatic 1, 211600 (3)
CTDP1	Congenital cataracts, facial dysmorphism, and neuropathy, 604168 (3)
DCC	Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542 (3) Colorectal cancer, somatic, 114500 (3) Esophageal carcinoma, somatic, 133239 (3) Mirror movements 1 and/or agenesis of the corpus callosum, 157600 (3)
DSG1	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508 (3) Keratosis palmoplantaris striata I, AD, 148700 (3)
DSG2	Arrhythmogenic right ventricular dysplasia 10, 610193 (3) Cardiomyopathy, dilated, 1BB, 612877 (3)
DSG4	Hypotrichosis 6, 607903 (3)
DTNA	Left ventricular noncompaction 1, with or without congenital heart defects, 604169 (3)
ELP2	Mental retardation, autosomal recessive 58, 617270 (3)
EPG5	Vici syndrome, 242840 (3)
FECH	Protoporphyria, erythropoietic, 1, 177000 (3)
GNAL	Dystonia 25, 615073 (3)
GREB1L	Renal hypodysplasia/aplasia 3, 617805 (3)
KDSR	Erythrokeratodermia variabilis et progressiva 4, 617526 (3)
LAMA1	Poretti-Boltshauser syndrome, 615960 (3)
LAMA3	Epidermolysis bullosa, generalized atrophic benign, 226650 (3) Epidermolysis bullosa, junctional, Herlitz type, 226700 (3) Laryngoonychocutaneous syndrome, 245660 (3)
LOXHD1	Deafness, autosomal recessive 77, 613079 (3)
MOCOS	Xanthinuria, type II, 603592 (3)
MYO5B	Microvillus inclusion disease, 251850 (3)
NDUFV2	Mitochondrial complex I deficiency, nuclear type 7, 618229 (3)
NPC1	{Nasopharyngeal carcinoma 1} (2)
NPC1	Niemann-Pick disease, type C1, 257220 (3) Niemann-Pick disease, type D, 257220 (3)
PIEZO2	Arthrogryposis, distal, type 3, 114300 (3) Arthrogryposis, distal, type 5, 108145 (3) Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3) ?Marden-Walker syndrome, 248700 (3)
PIGN	Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3)
RTTN	Microcephaly, short stature, and polymicrogyria with seizures, 614833 (3)
SERPINB7	Palmoplantar keratoderma, Nagashima type, 615598 (3)
SERPINB8	Peeling skin syndrome 5, 617115 (3)
SETBP1	Mental retardation, autosomal dominant 29, 616078 (3) Schinzel-Giedion midface retraction syndrome, 269150 (3)
SLC14A1	[Blood group, Kidd], 111000 (3)
SMAD4	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 (3) Myhre syndrome, 139210 (3) Pancreatic cancer, somatic, 260350 (3) Polyposis, juvenile intestinal, 174900 (3)
SMCHD1	Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 (3) Bosma arhinia microphthalmia syndrome, 603457 (3)
TAF4B	?Spermatogenic failure 13, 615841 (3)
TCF4	Corneal dystrophy, Fuchs endothelial, 3, 613267 (3) Pitt-Hopkins syndrome, 610954 (3)
TGIF1	Holoprosencephaly 4, 142946 (3)
TNFRSF11A	{Paget disease of bone 2, early-onset}, 602080 (3) Osteolysis, familial expansile, 174810 (3) Osteopetrosis, autosomal recessive 7, 612301 (3)

Genes at Clinical Genomics Database

AFG3L2, ASXL3, ATP5A1, ATP8B1, CTDP1, DCC, DSG1, DSG2, DSG4, DTNA, EPG5, FECH, GNAL, LAMA1, LAMA3, LOXHD1, MYO5B, NDUFV2, NPC1, PIEZO2, PIGN, RTTN, SERPINB7, SETBP1, SLC14A1, SMAD4, SMCHD1, TAF4B, TCF4, TGIF1, TNFRSF11A,

AFG3L2	Spinocerebellar ataxia 28 Spastic ataxia 5, autosomal recessive
ASXL3	Bainbridge-Ropers syndrome
ATP5A1	Combined oxidative phosphorylation deficiency 22 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4
ATP8B1	Familial intrahepatic cholestasis, recurrent Cholestasis, progressive familial intrahepatic 1 Intrahepatic cholestasis of pregnancy
CTDP1	Congenital cataracts, facial dysmorphism, and neuropathy
DCC	Mirror movements 1
DSG1	Severe dermatitis, multiple allergies, and metabolic wasting syndrome (SAM syndrome)
DSG2	Cardiomyopathy, dilated, 1BB Arrhythmogenic right ventricular dysplasia, familial, 10
DSG4	Hypotrichosis 6
DTNA	Left ventricular noncompaction 1
EPG5	Vici syndrome
FECH	Protoporphyria, erythropoietic
GNAL	Primary torsion dystonia
LAMA1	Poretti-Boltshauser syndrome
LAMA3	Laryngoonychocutaneous syndrome Epidermolysis bullosa, junctional, Herlitz type Epidermolysis bullosa, generalized atrophic benign
LOXHD1	Deafness, autosomal recessive 77
MYO5B	Diarrhea 2, with microvillus atrophy
NDUFV2	Mitochondrial complex I deficiency
NPC1	Niemann-Pick disease, type C1 Niemann-Pick disease, type D
PIEZO2	Distal arthrogryposis type 3 Distal arthrogryposis type 5 Marden-Walker syndrome
PIGN	Multiple congenital anomalies-hypotonia-seizures syndrome 1
RTTN	Microcephaly, short stature, and polymicrogyria with or without seizures
SERPINB7	Palmoplantar keratoderma, Nagashima type
SETBP1	Mental retardation, autosomal dominant 29 Schinzel-Giedion midface retraction syndrome
SLC14A1	Blood group, Kidd
SMAD4	Hereditary hemorrhagic telangiectasia, type 1 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Polyposis, juvenile intestinal Myhre syndrome
SMCHD1	Facioscapulohumeral muscular dystrophy, type 2
TAF4B	Spermatogenic failure 13
TCF4	Corneal dystrophy, Fuchs endothelial, 3 Pitt-Hopkins syndrome
TGIF1	Holoprosencephaly 4
TNFRSF11A	Familial expansile osteolysis Paget disease of bone 2, early-onset Osteopetrosis, autosomal recessive 7

Genes at HGMD

Summary

Number of Variants: 3053
Number of Genes: 159

Export to: CSV

Page 1 of 31
next

Page 1 of 31
next

AC012123.1
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	combined sample_94.variant39	18	rs200605696 dbSNP Clinvar	30352057	4598.56	GC...	G	PASS	1/1	145	FRAME_SHIFT	HIGH	None							None None	None None None None	KLHL14\|0.473561671\|17.04%
	View	combined sample_94.variant39	18	rs71366355 dbSNP Clinvar	30352114	2181.02	C	G	PASS	0/1	237	SYNONYMOUS_CODING	LOW	None	0.20587	0.20590					None None	None None None None	KLHL14\|0.473561671\|17.04%
ADCYAP1
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	combined sample_94.variant39	18	rs8192597 dbSNP Clinvar	907675	1069.05	G	A	PASS	1/1	167	SYNONYMOUS_CODING	LOW	None	0.70208	0.70210	0.34802				None None	None None None None	ADCYAP1\|0.147854671\|43.32%
ADNP2
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	combined sample_94.variant39	18	rs1064058 dbSNP Clinvar	77891039	755.75	T	A	PASS	0/1	44	SYNONYMOUS_CODING	LOW	None	0.12500	0.12500	0.18176				None None	None None None None	ADNP2\|0.014262869\|77.65%
	View	combined sample_94.variant39	18	rs3744878 dbSNP Clinvar	77895192	2328.42	G	A	PASS	0/1	130	SYNONYMOUS_CODING	LOW	None	0.10963	0.10960	0.14793				None None	None None None None	ADNP2\|0.014262869\|77.65%
	View	combined sample_94.variant39	18	rs1064059 dbSNP Clinvar	77893683	2179.5	A	G	PASS	0/1	123	SYNONYMOUS_CODING	LOW	None	0.12480	0.12480	0.18192				None None	None None None None	ADNP2\|0.014262869\|77.65%
AFG3L2
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	combined sample_94.variant39	18	rs11080572 dbSNP Clinvar	12351342	2611.18	C	T	PASS	1/1	60	SYNONYMOUS_CODING	LOW	None	0.62320	0.62320	0.31386				None None	None None None None	AFG3L2\|0.258891122\|30.83%
	View	combined sample_94.variant39	18	rs11553521 dbSNP Clinvar	12348285	2969.61	T	C	PASS	1/1	91	SYNONYMOUS_CODING	LOW	None	0.70986	0.70990	0.22074				None None	None None None None	AFG3L2\|0.258891122\|30.83%
ALPK2
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	combined sample_94.variant39	18	rs115018482 dbSNP Clinvar	56247744	583.12	C	T	PASS	0/1	50	SYNONYMOUS_CODING	LOW	None	0.00619	0.00619	0.00465				None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	combined sample_94.variant39	18	rs114432784 dbSNP Clinvar	56246682	1612.8	T	G	PASS	0/1	125	SYNONYMOUS_CODING	LOW	None	0.03355	0.03355	0.01146				None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	combined sample_94.variant39	18	rs75412529 dbSNP Clinvar	56246748	1188.65	G	A	PASS	0/1	107	SYNONYMOUS_CODING	LOW	None	0.00659	0.00659	0.00584				None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	combined sample_94.variant39	18	rs3809974 dbSNP Clinvar	56204768	963.44	G	A	PASS	0/1	67	NON_SYNONYMOUS_CODING	MODERATE	None	0.05491	0.05491	0.04859	0.04	0.76		None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	combined sample_94.variant39	18	rs3826593 dbSNP Clinvar	56204747	2600.06	G	A	PASS	0/1	65	NON_SYNONYMOUS_CODING	MODERATE	None	0.79852	0.79850	0.15624	0.97	0.00		None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	combined sample_94.variant39	18	rs17065139 dbSNP Clinvar	56203837	2421.85	G	A	PASS	0/1	152	SYNONYMOUS_CODING	LOW	None	0.05531	0.05531	0.04875				None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	combined sample_94.variant39	18	rs10469212 dbSNP Clinvar	56202418	3922.66	T	C	PASS	0/1	112	SYNONYMOUS_CODING	LOW	None	0.93051	0.93050	0.06874				None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	combined sample_94.variant39	18	rs17065127 dbSNP Clinvar	56202231	1247.36	T	C	PASS	0/1	77	NON_SYNONYMOUS_CODING	MODERATE	None	0.05751	0.05751	0.04982	0.00	1.00		None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	combined sample_94.variant39	18	rs7240666 dbSNP Clinvar	56149099	5580.56	T	C	PASS	1/1	115	NON_SYNONYMOUS_CODING	MODERATE	None	0.92153	0.92150	0.16754	1.00	0.00		None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	combined sample_94.variant39	18	rs6566987 dbSNP Clinvar	56279025	559.57	T	G	PASS	1/1	47	NON_SYNONYMOUS_CODING	MODERATE	None	0.94070	0.94070	0.15807	1.00	0.00		None None	None None None None	ALPK2\|0.002935349\|88.74%
ANKRD12
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	combined sample_94.variant39	18	rs4798791 dbSNP Clinvar	9255982	320.76	A	G	PASS	1/1	51	NON_SYNONYMOUS_CODING	MODERATE	None	0.61342	0.61340	0.45472	0.07	1.00		None None	None None None None	ANKRD12\|0.456435861\|17.86%
ANKRD30B
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