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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
ABCA4, ABCB5, ABCC6, ADAMTS18, AGBL1, CHST6, COL12A1, COL17A1, COL2A1, COL4A1, COL4A2, COL4A3, COL4A4, COL5A2, COL6A1, CYP4V2, DIAPH1, DOCK9, FOXE3, GPR98, IL1RN, ITGB1, KERA, KRT13, KRT16, KRT23, KRT24, KRT3, LCAT, LRRN1, LTBP2, MTOR, OVOL2, PIK3CG, PIK3R1, PIKFYVE, PRDM5, PTK2, PXDN, SHC1, SLC4A11, TGFBI, VSX1, WNT9A, WNT9B, ZNF469,

+ Genes associated with diseases 34

Genes at Omim

ABCA4, ABCC6, ADAMTS18, AGBL1, CHST6, COL12A1, COL17A1, COL2A1, COL4A1, COL4A2, COL4A3, COL4A4, COL5A2, COL6A1, CYP4V2, DIAPH1, FOXE3, IL1RN, KERA, KRT13, KRT16, KRT3, LCAT, LTBP2, MTOR, OVOL2, PIK3R1, PIKFYVE, PRDM5, PXDN, SLC4A11, TGFBI, VSX1, ZNF469,

ABCA4	Fundus flavimaculatus, 248200 (3) {Macular degeneration, age-related, 2}, 153800 (3) Cone-rod dystrophy 3, 604116 (3) Retinal dystrophy, early-onset severe, 248200 (3) Retinitis pigmentosa 19, 601718 (3) Stargardt disease 1, 248200 (3)
ABCC6	Arterial calcification, generalized, of infancy, 2, 614473 (3) Pseudoxanthoma elasticum, 264800 (3) Pseudoxanthoma elasticum, forme fruste, 177850 (3)
ADAMTS18	Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458 (3)
AGBL1	Corneal dystrophy, Fuchs endothelial, 8, 615523 (3)
CHST6	Macular corneal dystrophy, 217800 (3)
COL12A1	Bethlem myopathy 2, 616471 (3) ?Ullrich congenital muscular dystrophy 2, 616470 (3)
COL17A1	Epidermolysis bullosa, junctional, localisata variant, 226650 (3) Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3) Epithelial recurrent erosion dystrophy, 122400 (3)
COL2A1	Avascular necrosis of the femoral head, 608805 (3) Achondrogenesis, type II or hypochondrogenesis, 200610 (3) Czech dysplasia, 609162 (3) Legg-Calve-Perthes disease, 150600 (3) Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3) Kniest dysplasia, 156550 (3) Osteoarthritis with mild chondrodysplasia, 604864 (3) Platyspondylic skeletal dysplasia, Torrance type, 151210 (3) SED congenita, 183900 (3) SMED Strudwick type, 184250 (3) Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3) Spondyloperipheral dysplasia, 271700 (3) Stickler sydrome, type I, nonsyndromic ocular, 609508 (3) Stickler syndrome, type I, 108300 (3) Vitreoretinopathy with phalangeal epiphyseal dysplasia (3)
COL4A1	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 (3) {Hemorrhage, intracerebral, susceptibility to}, 614519 (3) Brain small vessel disease with or without ocular anomalies, 175780 (3) ?Retinal arteries, tortuosity of, 180000 (3) Schizencephaly, 269160 (3)
COL4A2	{Hemorrhage, intracerebral, susceptibility to}, 614519 (3) Brain small vessel disease 2, 614483 (3)
COL4A3	Alport syndrome 2, autosomal recessive, 203780 (3) Alport syndrome 3, autosomal dominant, 104200 (3) Hematuria, benign familial, 141200 (3)
COL4A4	Alport syndrome 2, autosomal recessive, 203780 (3) Hematuria, familial benign, 141200 (3)
COL5A2	Ehlers-Danlos syndrome, classic type, 2, 130010 (3)
COL6A1	Bethlem myopathy 1, 158810 (3) Ullrich congenital muscular dystrophy 1, 254090 (3)
CYP4V2	Bietti crystalline corneoretinal dystrophy, 210370 (3)
DIAPH1	Deafness, autosomal dominant 1, 124900 (3) Seizures, cortical blindness, microcephaly syndrome, 616632 (3)
FOXE3	Anterior segment dysgenesis 2, multiple subtypes, 610256 (3) Cataract 34, multiple types, 612968 (3) {Aortic aneurysm, familial thoracic 11, susceptibility to}, 617349 (3)
IL1RN	{Gastric cancer risk after H. pylori infection}, 137215 (3) {Microvascular complications of diabetes 4}, 612628 (3) Interleukin 1 receptor antagonist deficiency, 612852 (3)
KERA	Cornea plana 2, autosomal recessive, 217300 (3)
KRT13	White sponge nevus 2, 615785 (3)
KRT16	Pachyonychia congenita 1, 167200 (3) Palmoplantar keratoderma, nonepidermolytic, focal, 613000 (3)
KRT3	Meesmann corneal dystrophy, 122100 (3)
LCAT	Fish-eye disease, 136120 (3) Norum disease, 245900 (3)
LTBP2	Glaucoma 3, primary congenital, D, 613086 (3) Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3) ?Weill-Marchesani syndrome 3, recessive, 614819 (3)
MTOR	Focal cortical dysplasia, type II, somatic, 607341 (3) Smith-Kingsmore syndrome, 616638 (3)
OVOL2	Corneal dystrophy, posterior polymorphous, 1, 122000 (3)
PIK3R1	Immunodeficiency 36, 616005 (3) ?Agammaglobulinemia 7, autosomal recessive, 615214 (3) SHORT syndrome, 269880 (3)
PIKFYVE	Corneal fleck dystrophy, 121850 (3)
PRDM5	Brittle cornea syndrome 2, 614170 (3)
PXDN	Anterior segment dysgenesis 7, with sclerocornea, 269400 (3)
SLC4A11	Corneal dystrophy, Fuchs endothelial, 4, 613268 (3) Corneal endothelial dystrophy and perceptive deafness, 217400 (3) Corneal endothelial dystrophy, autosomal recessive, 217700 (3)
TGFBI	Corneal dystrophy, Avellino type, 607541 (3) Corneal dystrophy, Groenouw type I, 121900 (3) Corneal dystrophy, Reis-Bucklers type, 608470 (3) Corneal dystrophy, Thiel-Behnke type, 602082 (3) Corneal dystrophy, epithelial basement membrane, 121820 (3) Corneal dystrophy, lattice type I, 122200 (3) Corneal dystrophy, lattice type IIIA, 608471 (3)
VSX1	Keratoconus 1, 148300 (3) ?Craniofacial anomalies and anterior segment dysgenesis syndrome, 614195 (3)
ZNF469	Brittle cornea syndrome 1, 229200 (3)

Genes at Clinical Genomics Database

ABCA4	Cone-rod dystrophy 3 Retinitis pigmentosa 19 Stargardt disease 1 Retinal dystrophy, early-onset severe Fundus flavimaculatus
ABCC6	Pseudoxanthoma elasticum
ADAMTS18	Knobloch syndrome 2 Microcornea, myopic chorioretinal atrophy, and telecanthus Retinal dystrophy, early onset, autosomal recessive
AGBL1	Corneal dystrophy, Fuchs endothelial, 8
CHST6	Macular dystrophy, corneal, 1 Macular dystrophy, corneal, 2
COL12A1	Bethlem myopathy 2 Ullrich congenital muscular dystrophy 2
COL17A1	Epithelial recurrent erosion dystrophy (ERED) Epidermolysis bullosa, junctional, non-Herlitz type
COL2A1	Stickler syndrome, type I Rhegmatogenous retinal detachment, autosomal dominant Czech dysplasia Otospondylomegaepiphyseal dysplasia Epiphyseal dysplasia, multiple, with myopia and deafness Avascular necrosis of femoral head, primary
COL4A1	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps Brain small vessel disease with or without ocular anomalies Anterior segment dysgenesis with cerebral involvement Porencephaly 1 Retinal artery tortuosity Schizencephaly
COL4A2	Hemorrhage, intracerebral, susceptibility to
COL4A3	Alport syndrome, autosomal dominant Alport syndrome, autosomal recessive
COL4A4	Alport syndrome, autosomal recessive
COL5A2	Ehlers-Danlos syndrome, type I Ehlers-Danlos syndrome, type II
COL6A1	Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1
CYP4V2	Bietti crystalline corneoretinal dystrophy Retinitis pigmentosa, autosomal recessive
DIAPH1	Deafness, autosomal dominant 1
FOXE3	Aphakia, congenital primary Anterior segment mesenchymal dysgenesis
IL1RN	Osteomyelitis, sterile multifocal, with periostitis and pustulosis
KERA	Cornea plana 2, autosomal recessive
KRT13	White sponge nevus 2
KRT16	Palmoplantar keratoderma, nonepidermolytic, focal Pachyonychia congenita 1
KRT3	Meesmann corneal dystrophy
LCAT	Lecithin:cholesterol acyltransferase deficiency (Norum disease) Fish-eye disease
LTBP2	Glaucoma 3, primary congenital, D Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma Weill-Marchesani syndrome 3
MTOR	Smith-Kingsmore syndrome
OVOL2	Corneal dystrophy, posterior polymorphous, 1
PIK3R1	Agammaglobulinemia 7, autosomal recessive
PIKFYVE	Corneal fleck dystrophy
PRDM5	Brittle cornea syndrome 2
PXDN	Corneal opacification with other ocular anomalies
SLC4A11	Cryohydrocytosis
TGFBI	Corneal dystrophy, lattice type I Corneal dystrophy, lattice type IIIA Corneal dystrophy of Bowman layer, type I Corneal dystrophy, Avellino type Corneal dystrophy, Reis-Bucklers type Corneal dystrophy, Thiel-Behnke type Corneal dystrophy, Groenouw type I Corneal dystrophy, epithelial basement membrane
VSX1	Craniofacial anomalies and anterior segment dysgenesis syndrome Keratoconus 1 Corneal dystrophy, posterior polymorphous
ZNF469	Brittle cornea syndrome 1

Genes at HGMD

Summary

Number of Variants: 126
Number of Genes: 46

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ABCA4
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	12030_s5	1	rs1801574 dbSNP Clinvar	94476388	100.0	C	G	PASS	0/1	20	SYNONYMOUS_CODING	LOW	None	0.20068	0.20070	0.24927				None None	None None None None	ABCA4\|0.440503373\|18.63%
	View	12030_s5	1	rs1801359 dbSNP Clinvar	94467447	100.0	G	A	PASS	0/1	62	SYNONYMOUS_CODING	LOW	None	0.13399	0.13400	0.14601				None None	None None None None	ABCA4\|0.440503373\|18.63%
	View	12030_s5	1	rs1762114 dbSNP Clinvar	94471075	100.0	A	G	PASS	0/1	21	SYNONYMOUS_CODING	LOW	None	0.76997	0.77000	0.22428				None None	None None None None	ABCA4\|0.440503373\|18.63%
	View	12030_s5	1	rs2275029 dbSNP Clinvar	94473845	100.0	T	C	PASS	1/1	27	SYNONYMOUS_CODING	LOW	None	0.16713	0.16710	0.19968				None None	None None None None	ABCA4\|0.440503373\|18.63%
	View	12030_s5	1	rs4147857 dbSNP Clinvar	94474328	100.0	T	C	PASS	0/1	67	SYNONYMOUS_CODING	LOW	None	0.18750	0.18750	0.20691				None None	None None None None	ABCA4\|0.440503373\|18.63%
	View	12030_s5	1	rs61748536 dbSNP Clinvar	94564500	100.0	G	A	PASS	0/1	36	SYNONYMOUS_CODING	LOW	None	0.00359	0.00419	0.00323				None None	None None None None	ABCA4\|0.440503373\|18.63%
ABCB5
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	12030_s5	7	rs10254317 dbSNP Clinvar	20768013	100.0	G	A	PASS	0/1	27	SYNONYMOUS_CODING	LOW	None	0.59605	0.59600	0.47801				None None	None None None None	ABCB5\|0.12579132\|46.5%
	View	12030_s5	7	rs2893006 dbSNP Clinvar	20687181	100.0	C	T	PASS	0/1	52	SYNONYMOUS_CODING	LOW	None	0.21945	0.21940	0.25908				None None	None None None None	ABCB5\|0.12579132\|46.5%
ABCC6
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	12030_s5	16	rs7500834 dbSNP Clinvar	16272670	100.0	T	C	PASS	0/1	97	SYNONYMOUS_CODING	LOW	None	0.96446	0.96450	0.03548				None None	None None None None	ABCC6\|0.022547171\|72.9%
	View	12030_s5	16	rs8058696 dbSNP Clinvar	16278869	100.0	G	C	PASS	0/1	23	SYNONYMOUS_CODING	LOW	None	0.33267	0.33270	0.45306				None None	None None None None	ABCC6\|0.022547171\|72.9%
	View	12030_s5	16	rs9940825 dbSNP Clinvar	16291971	100.0	C	T	PASS	0/1	56	SYNONYMOUS_CODING	LOW	None	0.23223	0.23220	0.30603				None None	None None None None	ABCC6\|0.022547171\|72.9%
	View	12030_s5	16	rs9930886 dbSNP Clinvar	16291983	100.0	A	G	PASS	0/1	56	SYNONYMOUS_CODING	LOW	None	0.28275	0.28270	0.31330				None None	None None None None	ABCC6\|0.022547171\|72.9%
	View	12030_s5	16	rs9924755 dbSNP Clinvar	16271409	100.0	G	A	PASS	0/1	86	SYNONYMOUS_CODING	LOW	None	0.15156	0.15160	0.18816				None None	None None None None	ABCC6\|0.022547171\|72.9%
ADAMTS18
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	12030_s5	16	rs8059275 dbSNP Clinvar	77389956	100.0	A	G	PASS	1/1	49	SYNONYMOUS_CODING	LOW	None	0.88219	0.88220	0.12527				None None	None None None None	ADAMTS18\|0.112557021\|48.75%
AGBL1
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	12030_s5	15	rs1566088 dbSNP Clinvar	86806029	100.0	C	T	PASS	0/1	37	SYNONYMOUS_CODING	LOW	None			0.30818				None None	None None None None	AGBL1\|0.082073978\|54.74%
	View	12030_s5	15	rs1353578 dbSNP Clinvar	86800209	100.0	C	T	PASS	0/1	28	SYNONYMOUS_CODING	LOW	None	0.53974	0.53970	0.35463				None None	None None None None	AGBL1\|0.082073978\|54.74%
	View	12030_s5	15	rs1006030 dbSNP Clinvar	87531281	100.0	A	C	PASS	1/1	94	SYNONYMOUS_CODING	LOW	None	0.82069	0.82070	0.19396				None None	None None None None	AGBL1\|0.082073978\|54.74%
	View	12030_s5	15	rs4362360 dbSNP Clinvar	86940622	100.0	T	C	PASS	1/1	71	SYNONYMOUS_CODING	LOW	None	0.74421	0.74420	0.39279				None None	None None None None	AGBL1\|0.082073978\|54.74%
	View	12030_s5	15	rs11858435 dbSNP Clinvar	86814866	100.0	A	G	PASS	0/1	45	SYNONYMOUS_CODING	LOW	None	0.68211	0.68210	0.26808				None None	None None None None	AGBL1\|0.082073978\|54.74%
	View	12030_s5	15	rs10520618 dbSNP Clinvar	86807761	100.0	A	G	PASS	0/1	107	SYNONYMOUS_CODING	LOW	None	0.50539	0.50540	0.47409				None None	None None None None	AGBL1\|0.082073978\|54.74%
CHST6
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	12030_s5	16	rs112939575 dbSNP Clinvar	75513598	100.0	C	T	PASS	0/1	65	SYNONYMOUS_CODING	LOW	None	0.00280	0.00280	0.00339				None None	None None None None	CHST6\|0.068807655\|57.77%
COL12A1