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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
AASDH, ABCB11, ABLIM2, AC104809.3, AC139100.2, ACAP2, ACTA2, ADCY4, ADSL, AGFG1, AMPH, AMT, ANKFY1, ANKRD20A2, ATP13A4, ATP2A3, ATP2B3, ATXN7, BIRC8, BIVM, BLACE, BRCA1, BRF1, BRIP1, BTAF1, C1orf194, C1orf94, C20orf112, C2orf47, CBLB, CCDC13, CCDC67, CCT4, CELF1, CEP89, CGB7, CNOT1, CNTNAP4, COPE, CPAMD8, CYP4F22, DCP1B, DDX21, DEF8, DNHD1, DOCK5, DRAXIN, EFCAB6, EGFR, ETFA, FANCA, FBXL20, FES, FN1, FREM2, FZR1, GARS, GLB1L3, GMNC, GOLGA6L20, GPI, GTPBP10, HCK, HEPHL1, HIPK1, HIST1H1B, HLA-DOB, HLA-DPB1, HLA-DQA2, HLA-DRA, HLA-DRB1, HMCN2, HNRNPUL1, HSD11B1, IFT88, INPP4A, INTS1, IPP, ITGA6, KCTD1, KIAA0513, KIAA1217, KIF1B, KIF20A, KIF5A, KLHL8, LRCH1, LRRC37A3, MAD2L2, MAVS, MCTS1, MED14, MLIP, MLLT4, MRGPRX1, MTHFD1, MUC2, MUC4, MVB12B, MYC, NAV2, NEB, NLRP9, NPC1L1, NSL1, NSRP1, OLR1, OR12D2, OR13C4, OR2T3, OR52N4, OR7A5, OSBPL6, PAPD4, PCGF3, PDE3A, PDE4D, PF4V1, PIGT, POLR2B, PPAPDC3, PPM1J, PPP1R12A, PPP1R13B, PRPF4B, PRSS1, PTPN23, RFWD2, RGPD1, RHOF, RNF213, RPGRIP1L, RPH3A, RPH3AL, SDHB, SENP6, SERINC2, SEZ6L, SH2D3C, SHOX, SLA, SLC16A7, SLFN12L, SMG1, SNX13, SNX9, SPATS2L, ST7L, STAG1, SYNE1, SYNPO2, TDRD5, TM9SF4, TMEM189-UBE2V1, TMEM41B, TP73, TPP2, TRAF3, TRBV30, TRIM35, TRIM56, TXNL1, UBE2O, USP5, UTRN, VPS37A, VWA5B2, WDFY4, WDR52, WDR60, WEE2, XAB2, XRN2, YY1, ZCCHC9, ZMYND10, ZNF444, ZNF528, ZNF776, ZNF787,

+ Genes associated with diseases 47

Genes at Omim

ABCB11, ACTA2, ADSL, AMT, ATP2B3, ATXN7, BRCA1, BRF1, BRIP1, CPAMD8, CYP4F22, EGFR, ETFA, FANCA, FN1, FREM2, GARS, GPI, HLA-DPB1, HLA-DRB1, HSD11B1, ITGA6, KCTD1, KIF1B, KIF5A, MAD2L2, MTHFD1, MYC, NEB, NPC1L1, OLR1, PDE3A, PDE4D, PIGT, PRSS1, RNF213, RPGRIP1L, SDHB, SHOX, STAG1, SYNE1, TRAF3, VPS37A, WDR60, WEE2, YY1, ZMYND10,

ABCB11	Cholestasis, benign recurrent intrahepatic, 2, 605479 (3) Cholestasis, progressive familial intrahepatic 2, 601847 (3)
ACTA2	Aortic aneurysm, familial thoracic 6, 611788 (3) Moyamoya disease 5, 614042 (3) Multisystemic smooth muscle dysfunction syndrome, 613834 (3)
ADSL	Adenylosuccinase deficiency, 103050 (3)
AMT	Glycine encephalopathy, 605899 (3)
ATP2B3	?Spinocerebellar ataxia, X-linked 1, 302500 (3)
ATXN7	Spinocerebellar ataxia 7, 164500 (3)
BRCA1	Fanconi anemia, complementation group S, 617883 (3) {Pancreatic cancer, susceptibility to, 4}, 614320 (3) {Breast-ovarian cancer, familial, 1}, 604370 (3)
BRF1	Cerebellofaciodental syndrome, 616202 (3)
BRIP1	Fanconi anemia, complementation group J, 609054 (3) {Breast cancer, early-onset, susceptibility to}, 114480 (3)
CPAMD8	Anterior segment dysgenesis 8, 617319 (3)
CYP4F22	Ichthyosis, congenital, autosomal recessive 5, 604777 (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)
ETFA	Glutaric acidemia IIA, 231680 (3)
FANCA	Fanconi anemia, complementation group A, 227650 (3)
FN1	Glomerulopathy with fibronectin deposits 2, 601894 (3) Plasma fibronectin deficiency, 614101 (1) Spondylometaphyseal dysplasia, corner fracture type, 184255 (3)
FREM2	Fraser syndrome 2, 617666 (3)
GARS	Charcot-Marie-Tooth disease, type 2D, 601472 (3) Neuropathy, distal hereditary motor, type VA, 600794 (3)
GPI	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 (3)
HLA-DPB1	{Beryllium disease, chronic, susceptibility to} (3)
HLA-DRB1	{Multiple sclerosis, susceptibility to, 1}, 126200 (3) {Sarcoidosis, susceptibility to, 1}, 181000 (3)
HSD11B1	Cortisone reductase deficiency 2, 614662 (3)
ITGA6	Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3)
KCTD1	Scalp-ear-nipple syndrome, 181270 (3)
KIF1B	{Neuroblastoma, susceptibility to, 1}, 256700 (3) Pheochromocytoma, 171300 (3) ?Charcot-Marie-Tooth disease, type 2A1, 118210 (3)
KIF5A	Myoclonus, intractable, neonatal, 617235 (3) Spastic paraplegia 10, autosomal dominant, 604187 (3) {Amyotrophic lateral sclerosis, susceptibility to, 25}, 617921 (3)
MAD2L2	?Fanconi anemia, complementation group V, 617243 (3)
MTHFD1	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3) {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)
MYC	Burkitt lymphoma, somatic, 113970 (3)
NEB	Nemaline myopathy 2, autosomal recessive, 256030 (3)
NPC1L1	[Ezetimibe, nonresponse to], 617966 (3) [Low density lipoprotein cholesterol level QTL 7], 617966 (3)
OLR1	{Myocardial infarction, susceptibility to}, 608446 (3)
PDE3A	Hypertension and brachydactyly syndrome, 112410 (3)
PDE4D	Acrodysostosis 2, with or without hormone resistance, 614613 (3)
PIGT	Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398 (3) ?Paroxysmal nocturnal hemoglobinuria 2, 615399 (3)
PRSS1	Pancreatitis, hereditary, 167800 (3) Trypsinogen deficiency, 614044 (1)
RNF213	{Moyamoya disease 2, susceptibility to}, 607151 (3)
RPGRIP1L	COACH syndrome, 216360 (3) Joubert syndrome 7, 611560 (3) Meckel syndrome 5, 611561 (3)
SDHB	Gastrointestinal stromal tumor, 606764 (3) Paraganglioma and gastric stromal sarcoma, 606864 (3) Paragangliomas 4, 115310 (3) Pheochromocytoma, 171300 (3)
SHOX	Leri-Weill dyschondrosteosis, 127300 (3) Langer mesomelic dysplasia, 249700 (3) Short stature, idiopathic familial, 300582 (3)
STAG1	Mental retardation, autosomal dominant 47, 617635 (3)
SYNE1	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 (3) Spinocerebellar ataxia, autosomal recessive 8, 610743 (3)
TRAF3	{?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, 614849 (3)
VPS37A	Spastic paraplegia 53, autosomal recessive, 614898 (3)
WDR60	Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 (3)
WEE2	Oocyte maturation defect 5, 617996 (3)
YY1	Gabriele-de Vries syndrome, 617557 (3)
ZMYND10	Ciliary dyskinesia, primary, 22, 615444 (3)

Genes at Clinical Genomics Database

ABCB11, ACTA2, ADSL, AMT, ATP2B3, ATXN7, BRCA1, BRF1, BRIP1, CYP4F22, EGFR, ETFA, FANCA, FN1, FREM2, GARS, GPI, HSD11B1, IFT88, ITGA6, KIF1B, KIF5A, MTHFD1, NEB, NPC1L1, PDE3A, PDE4D, PIGT, PRSS1, RNF213, RPGRIP1L, SDHB, SHOX, SYNE1, TRAF3, VPS37A, WDR60, ZMYND10,

ABCB11	Cholestasis, progressive familial intrahepatic 2
ACTA2	Moyamoya disease Multisystemic smooth muscle dysfunction syndrome Aortic aneurysm, familial thoracic 6
ADSL	Adenylosuccinase deficiency
AMT	Glycine encephalopathy
ATP2B3	Spinocerebellar ataxia, X-linked 1
ATXN7	Spinocerebellar ataxia 7
BRCA1	Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4
BRF1	Cerebellofaciodental syndrome
BRIP1	Breast cancer Fanconi anemia, complementation group J
CYP4F22	Ichthyosis, congenital, autosomal recessive 5
EGFR	Acute myeloid leukemia, familial Lung cancer, familial, susceptibilty to Inflammatory skin and bowel disease, neonatal, 2
ETFA	Multiple acyl-CoA dehydrogenase deficiency Glutaric aciduria II
FANCA	Fanconi anemia, complementation group A
FN1	Glomerulopathy with fibronectin deposits 2
FREM2	Fraser syndrome
GARS	Charcot-Marie-Tooth disease, type 2D Neuropathy, distal hereditary motor, type V
GPI	Hemolytic anemia, nonspherocytic due to glucose phosphate isomerase deficiency
HSD11B1	Cortisone reductase deficiency 1
IFT88	Ciliopathy, IFT88-related
ITGA6	Epidermolysis bullosa, junctional, with pyloric stenosis
KIF1B	Neuroblastoma, susceptibility to Pheochromocytoma
KIF5A	Spastic paraplegia 10, autosomal dominant
MTHFD1	Severe combined immunodeficiency
NEB	Nemaline myopathy 2
NPC1L1	Ezetimibe, nonresponse to
PDE3A	Hypertension with brachydactyly
PDE4D	Acrodysostosis 2, with or without hormone resistance
PIGT	Multiple congenital anomalies-hypotonia-seizures syndrome 3
PRSS1	Pancreatitis, hereditary
RNF213	Moyamoya disease 2
RPGRIP1L	Meckel syndrome 5 Joubert syndrome 7 COACH syndrome Retinal degeneration in ciliopathy, modifier of
SDHB	Cowden-like syndrome Paraganglioma and gastric stromal sarcoma Gastrointestinal stromal tumor Pheochromocytoma Paragangliomas 4
SHOX	Langer mesomelic dysplasia Leri-Weill dyschondrosteosis Short stature, idiopathic familial
SYNE1	Emery-Dreifuss muscular dystrophy 4, autosomal dominant Spinocerebellar ataxia, autosomal recessive 8
TRAF3	Herpes simplex encephalitis, susceptibility to, 3
VPS37A	Spastic paraplegia 53, autosomal recessive
WDR60	Short -rib thoracic dysplasia 8 with or without polydactyly
ZMYND10	Ciliary dyskinesia, primary, 22

Genes at HGMD

Summary

Number of Variants: 4552
Number of Genes: 180

Export to: CSV

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AASDH
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	dels	4	.	57221171	24.0	T	<DEL>	PASS	0/1	0	None	None	None							None None	None None None None	AASDH\|0.054593955\|61.31%
ABCB11
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	dels	2	.	169785009	7.0	C	<DEL>	PASS	1\|1	0	None	None	None							None None	None None None None	ABCB11\|0.25846736\|30.88%
ABLIM2
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	dels	4	.	7994083	3.0	T	<DEL>	PASS	1\|0	0	None	None	None							None None	None None None None	ABLIM2\|0.046835245\|63.64%
AC104809.3
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	dels	2	.	241922348	15.0	A	<DEL>	PASS	0/1	0	None	None	None							None None	None None None None	None
AC139100.2
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	dels	18	.	77926816	22.0	A	<DEL>	PASS	1\|1	0	FRAME_SHIFT+STOP_LOST	HIGH	None							None None	None None None None	PARD6G\|0.055173198\|61.15%
ACAP2
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	dels	3	.	195065562	6.0	G	<DEL>	PASS	1\|1	0	None	None	None							None None	None None None None	ACAP2\|0.547774722\|13.85%
ACTA2
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	dels	10	.	90702103	3.0	G	<DEL>	PASS	0\|1	0	None	None	None							None None	None None None None	STAMBPL1\|0.118948668\|47.58%,ACTA2\|0.936377274\|2.61%
ADCY4
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	dels	14	.	24793129	77.0	G	<DEL>	PASS	1\|0	0	EXON_DELETED	HIGH	None							None None	None None None None	ADCY4\|0.342968344\|24.64%
ADSL
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	dels	22	.	40760124	2.0	T	<DEL>	PASS	0\|1	0	None	None	None							None None	None None None None	ADSL\|0.847571535\|4.7%
AGFG1
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	dels	2	.	228399632	3.0	G	<DEL>	PASS	1\|0	0	EXON_DELETED	HIGH	None							None None	None None None None	AGFG1\|0.418055889\|19.67%