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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
MUTATION TYPE:	CHR: POS:

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Genes:
ADAMTS1, ATN1, ATOH8, ATP8A2, BANK1, C15orf56, C1QTNF5, CDH15, CDSN, CHD1L, CHDH, CLIC6, CRB2, DLL3, ENTPD4, ESPNL, FAM171A1, FAM173A, FGF2, FOXJ1, FXN, GABRB3, GLTSCR2, GP6, GYPA, HAS1, HIVEP3, HMGN5, KANK3, KCNA5, KLF2, MOXD1, NLRP6, PDX1, PF4, PHF2, POU5F1, PRR22, PRSS21, RAI1, RAMP3, RGS9BP, RPA1, SHANK1, SIRPA, SOCS7, SPHK1, TGFB1, THEM6, TRAPPC5, TRIM56, ZNF282, ZXDB,

+ Genes associated with diseases 16

Genes at Omim

ATN1, ATP8A2, C1QTNF5, CDH15, CDSN, CRB2, DLL3, FXN, GABRB3, GP6, GYPA, KCNA5, PDX1, RAI1, RGS9BP, TGFB1,

ATN1	Dentatorubro-pallidoluysian atrophy, 125370 (3)
ATP8A2	?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, 615268 (3)
C1QTNF5	Retinal degeneration, late-onset, autosomal dominant, 605670 (3)
CDH15	Mental retardation, autosomal dominant 3, 612580 (3)
CDSN	Hypotrichosis 2, 146520 (3) Peeling skin syndrome 1, 270300 (3)
CRB2	Focal segmental glomerulosclerosis 9, 616220 (3) Ventriculomegaly with cystic kidney disease, 219730 (3)
DLL3	Spondylocostal dysostosis 1, autosomal recessive, 277300 (3)
FXN	Friedreich ataxia with retained reflexes, 229300 (3) Friedreich ataxia, 229300 (3)
GABRB3	{Epilepsy, childhood absence, susceptibility to, 5}, 612269 (3) Epileptic encephalopathy, early infantile, 43, 617113 (3)
GP6	Bleeding disorder, platelet-type, 11, 614201 (3)
GYPA	{Malaria, resistance to}, 611162 (3) [Blood group, MNSs system], 111300 (3)
KCNA5	Atrial fibrillation, familial, 7, 612240 (3)
PDX1	{Diabetes mellitus, type II, susceptibility to}, 125853 (3) MODY, type IV, 606392 (3) Pancreatic agenesis 1, 260370 (3)
RAI1	Smith-Magenis syndrome, 182290 (3)
RGS9BP	Bradyopsia, 608415 (3)
TGFB1	{Cystic fibrosis lung disease, modifier of}, 219700 (3) Camurati-Engelmann disease, 131300 (3) Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213 (3)

Genes at Clinical Genomics Database

ATN1, C1QTNF5, CDH15, CDSN, CRB2, DLL3, FXN, GABRB3, GP6, GYPA, KCNA5, PDX1, RAI1, RGS9BP, TGFB1,

ATN1	Dentatorubro-pallidoluysian atrophy
C1QTNF5	Late-onset retinal degeneration
CDH15	Mental retardation, autosomal dominant 3
CDSN	Hypotrichosis 2 Peeling skin syndrome 1
CRB2	Focal segmental glomerulosclerosis 9 Ventriculomegaly with cystic kidney disease
DLL3	Spondylocostal dysostosis 1, autosomal recessive
FXN	Friedreich ataxia
GABRB3	Epilepsy, childhood absence, susceptibility to, 5
GP6	Bleeding disorder, platelet-type, 11
GYPA	Blood group, MN locus Blood group, Erik
KCNA5	Atrial fibrillation, familial, 7
PDX1	Pancreatic agenesis 1 Neonatal diabetes mellitus
RAI1	Smith-Magenis syndrome
RGS9BP	Bradyopsia
TGFB1	Camurati-Engelmann disease

Genes at HGMD

Summary

Number of Variants: 58
Number of Genes: 53

Export to: CSV

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ADAMTS1
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	na12878 dominant	21	rs434857 dbSNP Clinvar	28217178	30.49	T	G	LowQual	0/1	3	SYNONYMOUS_CODING	LOW	None	0.68890	0.68890	0.17773				None None	None None None None	ADAMTS1\|0.304173311\|27.34%
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	na12878 dominant	12	rs7969685 dbSNP Clinvar	7047143	44.01	C	A	LowQual	1/1	2	SYNONYMOUS_CODING	LOW	None	0.16254	0.16250	0.26462				None None	None None None None	ATN1\|0.702926343\|8.41%
ATOH8
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	na12878 dominant	2	rs17851881 dbSNP Clinvar	85981761	46.32	T	C	LowQual	1/1	2	NON_SYNONYMOUS_CODING	MODERATE	None	0.57109	0.57110	0.44330	0.00	0.77		None None	None None None None	ATOH8\|0.063936958\|58.9%
ATP8A2
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	na12878 dominant	13	rs200068509 dbSNP Clinvar	25946418	37.24	C	G	LowQual	0/1	5	NON_SYNONYMOUS_CODING	MODERATE	None				0.02	0.47		None None	None None None None	ATP8A2\|0.338221309\|24.95%
BANK1
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	na12878 dominant	4	.	102712061	33.22	G	T	LowQual	0/1	5	NON_SYNONYMOUS_CODING	MODERATE	None				0.10	0.02		None None	None None None None	BANK1\|0.027814487\|70.51%
C15orf56
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	na12878 dominant	15	rs55799438 dbSNP Clinvar	40544493	39.52	A	G	LowQual	0/1	5	NON_SYNONYMOUS_CODING	MODERATE	None	0.15835	0.15830	0.21558	1.00	0.00		None None	None None None None	PAK6\|0.183662894\|38.57%,C15orf56\|0.000912532\|95.96%
C1QTNF5
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	na12878 dominant	11	.	119210514	49.9	C	T	LowQual	1/1	2	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	1.00		None None	None None None None	C1QTNF5\|0.125545582\|46.55%,MFRP\|0.053195246\|61.74%
CDH15
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	na12878 dominant	16	rs75791347 dbSNP Clinvar	89258747	38.02	A	C	LowQual	0/1	5	NON_SYNONYMOUS_CODING	MODERATE	None	0.45308	0.45310	0.28921	0.42	0.00		None None	None None None None	CDH15\|0.019027782\|74.65%
CDSN
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	na12878 dominant	6	rs3132554 dbSNP Clinvar	31084163	31.24	A	G	LowQual	0/1	6	NON_SYNONYMOUS_CODING	MODERATE	None	0.64697	0.64700	0.43957	1.00	0.00		None None	None None None None	PSORS1C1\|0.000682448\|97.36%,CDSN\|0.07799088\|55.67%
CHD1L
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	na12878 dominant	1	rs1890042 dbSNP Clinvar	146714392	44.8	G	C	LowQual	0/1	6	SYNONYMOUS_CODING	LOW	None	0.18251	0.53530					None None	None None None None	FMO5\|0.073150574\|56.76%,CHD1L\|0.133578127\|45.36%