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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
AC012123.1, ADCYAP1, ADNP2, AFG3L2, ALPK2, ANKRD12, ANKRD30B, ANKRD62, AP005482.1, APCDD1, ARHGAP28, ATP8B1, ATP9B, BCL2, BOD1L2, C18orf21, C18orf42, C18orf56, C18orf63, C18orf64, C18orf8, CABYR, CBLN2, CCDC102B, CCDC11, CCDC178, CD226, CDH19, CDH2, CDH20, CDH7, CEP192, CHST9, CLUL1, CNDP1, CNDP2, COLEC12, CTAGE1, CTDP1, CTIF, CXXC1, CYB5A, DCC, DOK6, DSC1, DSC2, DSC3, DSEL, DSG1, DSG2, DSG3, DSG4, DTNA, DYNAP, EMILIN2, EPB41L3, EPG5, ESCO1, FAM210A, FAM69C, FBXO15, FECH, FHOD3, GALR1, GREB1L, GRP, GTSCR1, HSBP1L1, IMPACT, KATNAL2, KDSR, KIAA1468, KLHL14, L3MBTL4, LAMA1, LAMA3, LDLRAD4, LIPG, LMAN1, LOXHD1, MAPK4, MBD1, MBP, MC5R, MEP1B, METTL4, MEX3C, MOCOS, MPPE1, MRO, MYO5B, MYOM1, NDC80, NDUFV2, NEDD4L, NETO1, NFATC1, NPC1, ONECUT2, OSBPL1A, PARD6G, PHLPP1, PIEZO2, PIGN, POTEC, PPP4R1, PSMG2, PTPRM, RAB27B, RAX, RBFA, RIT2, RNF152, RNF165, ROCK1, RP11-683L23.1, RP11-861L17.3, RPRD1A, RTTN, SALL3, SEH1L, SERPINB10, SERPINB11, SERPINB13, SERPINB2, SERPINB3, SERPINB5, SERPINB7, SERPINB8, SETBP1, SIGLEC15, SKA1, SKOR2, SLC14A1, SLC14A2, SLC25A52, SLC39A6, SMCHD1, SOGA2, ST8SIA3, TAF4B, TCEB3B, TCF4, THOC1, TMEM200C, TMEM241, TNFRSF11A, TRAPPC8, TSHZ1, TTC39C, TXNDC2, WDR7, YES1, ZADH2, ZBTB14, ZBTB7C, ZCCHC2, ZNF236, ZNF24, ZNF397, ZNF407, ZNF516, ZNF519,

+ Genes associated with diseases 41

Genes at Omim

AFG3L2, APCDD1, ATP8B1, BCL2, CCDC11, CTDP1, CYB5A, DCC, DSC2, DSC3, DSG1, DSG2, DSG4, DTNA, EPG5, FECH, GREB1L, KDSR, LAMA1, LAMA3, LMAN1, LOXHD1, MOCOS, MYO5B, NDUFV2, NEDD4L, NPC1, NPC1, PIEZO2, PIGN, RAX, RTTN, SERPINB7, SERPINB8, SETBP1, SLC14A1, SMCHD1, TAF4B, TCF4, TNFRSF11A, TSHZ1,

AFG3L2	Spastic ataxia 5, autosomal recessive, 614487 (3) Spinocerebellar ataxia 28, 610246 (3)
APCDD1	Hypotrichosis 1, 605389 (3)
ATP8B1	Cholestasis, benign recurrent intrahepatic, 243300 (3) Cholestasis, intrahepatic, of pregnancy, 1, 147480 (3) Cholestasis, progressive familial intrahepatic 1, 211600 (3)
BCL2	Leukemia/lymphoma, B-cell, 2 (3)
CCDC11	Heterotaxy, visceral, 6, autosomal recessive, 614779 (3)
CTDP1	Congenital cataracts, facial dysmorphism, and neuropathy, 604168 (3)
CYB5A	Methemoglobinemia and ambiguous genitalia, 250790 (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)
DSC2	Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476 (3) Arrhythmogenic right ventricular dysplasia 11, 610476 (3)
DSC3	?Hypotrichosis and recurrent skin vesicles, 613102 (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)
EPG5	Vici syndrome, 242840 (3)
FECH	Protoporphyria, erythropoietic, 1, 177000 (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)
LMAN1	Combined factor V and VIII deficiency, 227300 (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)
NEDD4L	Periventricular nodular heterotopia 7, 617201 (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)
RAX	Microphthalmia, isolated 3, 611038 (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)
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)
TNFRSF11A	{Paget disease of bone 2, early-onset}, 602080 (3) Osteolysis, familial expansile, 174810 (3) Osteopetrosis, autosomal recessive 7, 612301 (3)
TSHZ1	Aural atresia, congenital, 607842 (3)

Genes at Clinical Genomics Database

AFG3L2, APCDD1, ATP8B1, CTDP1, CYB5A, DCC, DSC2, DSC3, DSG1, DSG2, DSG4, DTNA, EPG5, FECH, LAMA1, LAMA3, LMAN1, LOXHD1, MYO5B, NDUFV2, NPC1, PIEZO2, PIGN, RAX, RTTN, SERPINB7, SETBP1, SLC14A1, SMCHD1, TAF4B, TCF4, TNFRSF11A, TSHZ1,

AFG3L2	Spinocerebellar ataxia 28 Spastic ataxia 5, autosomal recessive
APCDD1	Hypotrichosis 1
ATP8B1	Familial intrahepatic cholestasis, recurrent Cholestasis, progressive familial intrahepatic 1 Intrahepatic cholestasis of pregnancy
CTDP1	Congenital cataracts, facial dysmorphism, and neuropathy
CYB5A	46, XY disorder of sex development Methemoglobinemia, type IV
DCC	Mirror movements 1
DSC2	Arrhythmogenic right ventricular dysplasia, familial, 11 Arrhythmogenic right ventricular dysplasia with palmoplantar keratoderma and woolly hair
DSC3	Hypotrichosis and recurrent skin vesicles
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
LAMA1	Poretti-Boltshauser syndrome
LAMA3	Laryngoonychocutaneous syndrome Epidermolysis bullosa, junctional, Herlitz type Epidermolysis bullosa, generalized atrophic benign
LMAN1	Combined factor V and VIII deficiency
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
RAX	Microphthalmia, isolated 3
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
SMCHD1	Facioscapulohumeral muscular dystrophy, type 2
TAF4B	Spermatogenic failure 13
TCF4	Corneal dystrophy, Fuchs endothelial, 3 Pitt-Hopkins syndrome
TNFRSF11A	Familial expansile osteolysis Paget disease of bone 2, early-onset Osteopetrosis, autosomal recessive 7
TSHZ1	Aural atresia, congenital

Genes at HGMD

Summary

Number of Variants: 1784
Number of Genes: 163

Export to: CSV

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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	snps raw-snps 17_0234	18	rs147250782 dbSNP Clinvar	30352078	127.13	G	C	.	0/1	14	None	None	None							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	snps raw-snps 17_0234	18	rs8192597 dbSNP Clinvar	907675	1219.99	G	A	.	1/1	8	None	None	None	0.70208	0.70210	0.34802				None None	None None None None	ADCYAP1\|0.147854671\|43.32%
	View	snps raw-snps 17_0234	18	rs2231187 dbSNP Clinvar	909561	2871.9	A	G	.	1/1	67	None	None	None	0.20248	0.20250	0.25727				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	snps raw-snps 17_0234	18	rs3826595 dbSNP Clinvar	77896242	4077.16	C	T	.	0/1	145	None	None	None	0.29393	0.29390	0.12133				None None	None None None None	ADNP2\|0.014262869\|77.65%
	View	snps raw-snps 17_0234	18	rs36083942 dbSNP Clinvar	77894470	2509.16	A	G	.	0/1	96	None	None	None	0.00779	0.00779	0.01584	1.00	0.00	-1.64	None None	None None None None	ADNP2\|0.014262869\|77.65%
	View	snps raw-snps 17_0234	18	rs3744877 dbSNP Clinvar	77894844	5616.16	G	A	.	1/1	86	None	None	None	0.41873	0.41870	0.38413				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	snps raw-snps 17_0234	18	rs11080572 dbSNP Clinvar	12351342	6947.9	C	T	.	1/1	82	None	None	None	0.62320	0.62320	0.31386				None None	None None None None	AFG3L2\|0.258891122\|30.83%
	View	snps raw-snps 17_0234	18	rs11553521 dbSNP Clinvar	12348285	6792.9	T	C	.	1/1	74	None	None	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	snps raw-snps 17_0234	18	rs3826593 dbSNP Clinvar	56204747	11424.1	G	A	.	0/1	154	None	None	None	0.79852	0.79850	0.15624	0.97	0.00	0.32	None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	snps raw-snps 17_0234	18	rs6566987 dbSNP Clinvar	56279025	1298.9	T	G	.	1/1	31	None	None	None	0.94070	0.94070	0.15807	1.00	0.00	0.15	None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	snps raw-snps 17_0234	18	rs7240666 dbSNP Clinvar	56149099	12564.9	T	C	.	1/1	136	None	None	None	0.92153	0.92150	0.16754	1.00	0.00	-2.28	None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	snps raw-snps 17_0234	18	rs9944810 dbSNP Clinvar	56247600	4993.92	C	A	.	0/1	137	None	None	None	0.48283	0.48280	0.44919	1.00	0.00	-1.12	None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	snps raw-snps 17_0234	18	rs9956630 dbSNP Clinvar	56247567	5874.92	A	G	.	0/1	132	None	None	None	0.48283	0.48280	0.45052				None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	snps raw-snps 17_0234	18	rs9958735 dbSNP Clinvar	56247180	4969.92	T	C	.	0/1	132	None	None	None	0.51018	0.51020	0.47932				None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	snps raw-snps 17_0234	18	rs10469212 dbSNP Clinvar	56202418	9756.13	T	C	.	0/1	126	None	None	None	0.93051	0.93050	0.06874				None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	snps raw-snps 17_0234	18	rs3826594 dbSNP Clinvar	56202982	13042.1	A	T	.	0/1	179	None	None	None	0.67292	0.67290	0.31632				None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	snps raw-snps 17_0234	18	rs3809980 dbSNP Clinvar	56203411	9038.13	G	C	.	0/1	119	None	None	None	0.67153	0.67150	0.31678				None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	snps raw-snps 17_0234	18	rs3809979 dbSNP Clinvar	56203447	9108.13	A	G	.	0/1	105	None	None	None	0.67173	0.67170	0.31678				None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	snps raw-snps 17_0234	18	rs3809978 dbSNP Clinvar	56203891	6922.13	G	T	.	0/1	134	None	None	None	0.67173	0.67170	0.31708				None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	snps raw-snps 17_0234	18	rs3809977 dbSNP Clinvar	56203898	7557.13	T	G	.	0/1	131	None	None	None	0.67173	0.67170	0.31747	0.05	0.40	1.16	None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	snps raw-snps 17_0234	18	rs3809976 dbSNP Clinvar	56204250	8545.13	A	C	.	0/1	107	None	None	None	0.67213	0.67210	0.31678	0.53	0.08	0.05	None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	snps raw-snps 17_0234	18	rs12963422 dbSNP Clinvar	56204644	2761.16	T	G	.	0/1	137	None	None	None	0.33746	0.33750	0.28741				None None	None None None None	ALPK2\|0.002935349\|88.74%
	View	snps raw-snps 17_0234	18	rs12606191 dbSNP Clinvar	56246442	4208.92	T	C	.	0/1	135	None	None	None	0.37340	0.37340	0.29586				None None	None None None None	ALPK2\|0.002935349\|88.74%
ANKRD12
Omim - GeneCards - NCBI