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Genes:
ADAMTS14, AHCYL1, AKNA, AMPD3, ANKRD36, ATN1, BCAT1, C1GALT1, C1orf112, C9orf62, CTBP2, DDX60L, DHX29, DNAH5, DNHD1, ELFN1, EP400, FAM3A, FRG2B, G6PD, GEMIN6, GUCY1A3, GXYLT2, HEG1, HLA-A, HLA-DQB1, HNRNPCL1, HPDL, HRNR, KAT6A, KIF3C, KRT18, KRTAP5-10, LOR, LRRIQ4, MAGEC1, MANEA, MED12L, MIOS, MUC21, MUC4, MUC6, NBEAL2, NCAPD3, NKX3-2, NLGN4Y, OBSL1, OR2T35, PCLO, PLXND1, PPP1R3A, PRAMEF17, PRDM9, PSD2, PTPDC1, RHNO1, RP1L1, RPAP3, SIPA1L2, SLC2A7, SLC35B3, SLC38A4, SLC9A6, SMAP2, SMG5, SNX15, SVEP1, TAS2R19, TMEM245, TXLNA, UBE2B, VWF, WDR52, ZFP41, ZFR, ZNF384, ZNF705B,

+ Genes associated with diseases 21

Genes at Omim

AMPD3, ATN1, BCAT1, DNAH5, G6PD, GUCY1A3, HLA-A, HLA-DQB1, KAT6A, KRT18, LOR, NBEAL2, NCAPD3, NKX3-2, OBSL1, PCLO, PPP1R3A, RP1L1, SLC9A6, UBE2B, VWF,

AMPD3	[AMP deaminase deficiency, erythrocytic], 612874 (3)
ATN1	Dentatorubro-pallidoluysian atrophy, 125370 (3)
BCAT1	?Hyperleucinemia-isoleucinemia or hypervalinemia (1)
DNAH5	Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
G6PD	{Resistance to malaria due to G6PD deficiency}, 611162 (3) Hemolytic anemia, G6PD deficient (favism), 300908 (3)
GUCY1A3	Moyamoya 6 with achalasia, 615750 (3)
HLA-A	{Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
HLA-DQB1	{Celiac disease, susceptibility to}, 212750 (3) {Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3) {Multiple sclerosis, susceptibility to, 1}, 126200 (3)
KAT6A	Mental retardation, autosomal dominant 32, 616268 (3)
KRT18	{Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3) Cirrhosis, cryptogenic, 215600 (3)
LOR	Vohwinkel syndrome with ichthyosis, 604117 (3)
NBEAL2	Gray platelet syndrome, 139090 (3)
NCAPD3	Microcephaly 22, primary, autosomal recessive, 617984 (3)
NKX3-2	Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 (3)
OBSL1	3-M syndrome 2, 612921 (3)
PCLO	?Pontocerebellar hypoplasia, type 3, 608027 (3)
PPP1R3A	Insulin resistance, severe, digenic, 125853 (3)
RP1L1	Occult macular dystrophy, 613587 (3)
SLC9A6	Mental retardation, X-linked syndromic, Christianson type, 300243 (3)
UBE2B	?Male infertility (1)
VWF	von Willebrand disease, type 1, 193400 (3) von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3) von Willibrand disease, type 3, 277480 (3)

Genes at Clinical Genomics Database

AMPD3, ATN1, DNAH5, G6PD, GUCY1A3, HLA-A, KAT6A, LOR, NBEAL2, NKX3-2, OBSL1, PPP1R3A, RP1L1, SLC9A6, VWF,

AMPD3	Erythrocytic AMP deaminase deficiency
ATN1	Dentatorubro-pallidoluysian atrophy
DNAH5	Ciliary dyskinesia, primary, 3, with or without situs inversus
G6PD	Glucose-6-phosphate dehydrogenase deficiency
GUCY1A3	Moyamoya disease 6 with achalasia
HLA-A	Drug-induced toxicity, susceptibility to
KAT6A	Mental retardation, autosomal dominant 32
LOR	Vohwinkel syndrome, variant form
NBEAL2	Gray platelet syndrome
NKX3-2	Spondylo-megaepiphyseal-metaphyseal dysplasia
OBSL1	Three M syndrome 2
PPP1R3A	Insulin resistance, severe, digenic
RP1L1	Occult macular dystrophy Retinitis pigmentosa, autosomal recessive
SLC9A6	Mental retardation, X-linked syndromic, Christianson type
VWF	von Willebrand disease, type 1 von Willebrand disease, type 2A von Willebrand disease, type 3

Genes at HGMD

Summary

Number of Variants: 195
Number of Genes: 77

Export to: CSV

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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	gordonsepilepsy filtered 2076	10	.	72434632	39.71	G	T	PASS	0/1	6	STOP_GAINED	HIGH	None							None None	None None None None	ADAMTS14\|0.04385867\|64.56%
AHCYL1
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	gordonsepilepsy filtered 2076	1	.	110558145	149.23	T	A	PASS	0/1	27	SYNONYMOUS_CODING	LOW	None							None None	None None None None	AHCYL1\|0.702188484\|8.43%
AKNA
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	gordonsepilepsy filtered 2076	9	.	117139491	7341.5	C	A	PASS	0/1	42	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	0.94		None None	None None None None	AKNA\|0.005369534\|85.34%
AMPD3
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	gordonsepilepsy filtered 2076	11	.	10527262	309.29	A	G	PASS	0/1	28	NON_SYNONYMOUS_CODING	MODERATE	None				0.40	0.01		None None	None None None None	AMPD3\|0.504907229\|15.58%
ANKRD36
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	gordonsepilepsy filtered 2076	2	.	97851073	3843.72	GC	G	PASS	0/1	185	FRAME_SHIFT	HIGH	None							None None	None None None None	ANKRD36\|0.001192347\|94.46%
	View	gordonsepilepsy filtered 2076	2	.	97851078	3870.72	A	AG	PASS	0/1	187	FRAME_SHIFT	HIGH	None							None None	None None None None	ANKRD36\|0.001192347\|94.46%
	View	gordonsepilepsy filtered 2076	2	.	97909693	2816.92	T	C	PASS	0/1	124	NON_SYNONYMOUS_CODING	MODERATE	None				0.13	0.30		None None	None None None None	ANKRD36\|0.001192347\|94.46%
	View	gordonsepilepsy filtered 2076	2	.	97909692	2771.92	G	A	PASS	0/1	123	NON_SYNONYMOUS_CODING	MODERATE	None				0.14	0.92		None None	None None None None	ANKRD36\|0.001192347\|94.46%
	View	gordonsepilepsy filtered 2076	2	.	97851077	3876.72	C	G	PASS	0/1	187	STOP_GAINED	HIGH	None							None None	None None None None	ANKRD36\|0.001192347\|94.46%
ATN1
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	gordonsepilepsy filtered 2076	12	.	7045891	9015.48	AC...	AC...	PASS	0/1	42	CODON_CHANGE_PLUS_CODON_INSERTION	MODERATE	None							None None	None None None None	ATN1\|0.702926343\|8.41%
BCAT1
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	gordonsepilepsy filtered 2076	12	.	25055885	2396.37	CG	C	PASS	1/1	2	FRAME_SHIFT	HIGH	None							None None	None None None None	BCAT1\|0.134347415\|45.22%
C1GALT1
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	gordonsepilepsy filtered 2076	7	.	7273951	2512.92	A	G	PASS	0/1	34	START_LOST	HIGH	None				0.03	0.08		None None	None None None None	C1GALT1\|0.167160818\|40.64%
C1orf112
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	gordonsepilepsy filtered 2076	1	.	169799420	2100.92	T	C	PASS	0/1	61	SYNONYMOUS_CODING	LOW	None							None None	None None None None	C1orf112\|0.183654765\|38.58%