ClinVar (all) for Orgtrack (Select 300471) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1048174	NM_000350.3(ABCA4):c.5690_5704del (p.Gln1897_Phe1901del)	ABCA4	Deletion (inframe_deletion +1 more)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 1048173	NM_000330.4(RS1):c.150G>A (p.Trp50Ter)	RS1 (W50*)	Single nucleotide variant (nonsense)	Juvenile retinoschisis	GLikely pathogenic
Select item 1048172	NM_000350.3(ABCA4):c.5311G>A (p.Gly1771Arg)	ABCA4 (G1771R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1048171	NM_000322.5(PRPH2):c.611_626del (p.Tyr204fs)	PRPH2 (Y204fs)	Deletion (frameshift variant)	Patterned macular dystrophy 1 +1 more	GPathogenic/Likely pathogenic
Select item 1048170	NM_001371596.2(MFSD8):c.670A>T (p.Asn224Tyr)	MFSD8 (N179Y +3 more)	Single nucleotide variant (missense variant +1 more)	Macular dystrophy with central cone involvement	GLikely pathogenic
Select item 1048169	NM_001034853.2(RPGR):c.2008_2017del (p.Gln670fs)	RPGR (Q670fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 3	GLikely pathogenic
Select item 1048168	NM_001034853.2(RPGR):c.2586_2587del (p.Glu863fs)	RPGR (E863fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 3 +2 more	GConflicting classifications of pathogenicity
Select item 1048167	NM_000350.3(ABCA4):c.2932G>A (p.Gly978Ser)	ABCA4 (G978S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1048166	NM_000350.3(ABCA4):c.[52C>T;5603A>T]	ABCA4 (R18W +2 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 1048165	NM_006017.3(PROM1):c.380G>A (p.Gly127Glu)	PROM1 (G118E +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 12	GLikely pathogenic
Select item 1048164	NM_006915.3(RP2):c.884-9T>A	RP2	Single nucleotide variant (intron variant)	Retinitis pigmentosa 2	GLikely pathogenic
Select item 1048163	NM_000350.3(ABCA4):c.[1610G>A;5603A>T]	ABCA4 (R537H +2 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 1048162	NM_000350.3(ABCA4):c.3323del (p.Arg1108fs)	ABCA4 (R1108fs)	Deletion (frameshift variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 1048161	NM_000330.4(RS1):c.53-713_78+266del	RS1	Deletion (splice acceptor variant +1 more)	Juvenile retinoschisis	GLikely pathogenic
Select item 1048160	NM_000350.3(ABCA4):c.5924G>T (p.Gly1975Val)	ABCA4 (G1975V +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 1048159	NM_000350.3(ABCA4):c.4978C>T (p.Pro1660Ser)	ABCA4, LOC126805793 (P1660S +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 1048158	NM_000350.3(ABCA4):c.5762_5763del (p.Val1921fs)	ABCA4 (V1921fs)	Microsatellite (frameshift variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 1048157	NM_019098.5(CNGB3):c.1167_1168insC (p.Glu390fs)	CNGB3 (E390fs)	Insertion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1048156	NM_000350.3(ABCA4):c.6428T>A (p.Met2143Lys)	ABCA4 (M2143K +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 1048155	NM_001297.5(CNGB1):c.1658C>A (p.Ala553Glu)	CNGB1 (A547E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1048154	NM_000350.2:c.(2918+765_2918+775)_(3328+618_3328+662)del	ABCA4	Deletion	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 1048153	NM_000350.3(ABCA4):c.428del (p.Pro143fs)	ABCA4 (P143fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1048152	NM_000350.3(ABCA4):c.6731T>A (p.Val2244Glu)	ABCA4 (V2244E +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 1048151	NM_130837.3(OPA1):c.2987A>C (p.Lys996Thr)	OPA1 (K817T +9 more)	Single nucleotide variant (missense variant)	Autosomal dominant optic atrophy classic form	GLikely pathogenic
Select item 1048150	NM_130837.3(OPA1):c.1890_1891del (p.Glu630fs)	OPA1 (E451fs +9 more)	Deletion (frameshift variant)	Autosomal dominant optic atrophy classic form	GLikely pathogenic
Select item 1048149	NM_006269.1:c.-12-1431_*286del	RP1	Deletion	Retinitis pigmentosa 1	GLikely pathogenic
Select item 1048148	NM_006017.3(PROM1):c.2476G>C (p.Asp826His)	PROM1 (D817H +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 12	GLikely pathogenic
Select item 1048147	NM_178857.6(RP1L1):c.196G>C (p.Asp66His)	RP1L1 (D66H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 88	GLikely pathogenic
Select item 1048146	NM_000350.3(ABCA4):c.6282+1G>C	ABCA4	Single nucleotide variant (splice donor variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 1048145	NM_000350.3(ABCA4):c.6122G>A (p.Gly2041Asp)	ABCA4 (G2041D +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1048144	NM_201253.3(CRB1):c.2687G>C (p.Cys896Ser)	CRB1 (C784S +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 1048143	NM_000350.3(ABCA4):c.3523-1G>A	ABCA4	Single nucleotide variant (splice acceptor variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 1048142	NM_000350.3(ABCA4):c.5377G>A (p.Val1793Met)	ABCA4 (V1793M +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 1048141	NM_000350.3(ABCA4):c.6323_6331delinsGGC (p.Met2108_Asn2111delinsArgHis)	ABCA4	Indel (inframe_indel)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 1048140	NM_000350.3(ABCA4):c.184C>T (p.Pro62Ser)	ABCA4 (P62S)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +1 more	GLikely pathogenic
Select item 1048139	NM_000322.5(PRPH2):c.512T>G (p.Phe171Cys)	PRPH2 (F171C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 7	GLikely pathogenic
Select item 1048138	NM_178857.6(RP1L1):c.1024_1026delinsCTCCT (p.Arg342fs)	RP1L1 (R342fs)	Indel (frameshift variant)	Retinitis pigmentosa 88	GLikely pathogenic
Select item 1048137	NM_133497.4(KCNV2):c.1096del (p.Val366fs)	KCNV2 (V366fs)	Deletion (frameshift variant)	Cone dystrophy with supernormal rod response +1 more	GPathogenic/Likely pathogenic
Select item 1048136	NM_000350.3(ABCA4):c.5461-6T>C	ABCA4	Single nucleotide variant (intron variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 1048135	NC_000009.11:g.2716981_2787016del	KCNV2	Deletion	Cone dystrophy with supernormal rod response	GLikely pathogenic
Select item 1048134	NM_000350.3(ABCA4):c.[5461-10T>C;5603A>T]	ABCA4 (N1868I +1 more)	Single nucleotide variant (intron variant +1 more)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 1048133	NM_000350.3(ABCA4):c.571-2A>T	ABCA4	Single nucleotide variant (splice acceptor variant)	Cone-rod dystrophy 3	GLikely pathogenic
Select item 1048132	NM_000350.3(ABCA4):c.[2588G>C;5603A>T]	ABCA4 (G863A +3 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 1048131	NM_000350.3(ABCA4):c.[5603A>T;5714+5G>A]	ABCA4 (N1868I +1 more)	Single nucleotide variant (missense variant +1 more)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 1048130	NM_201253.3(CRB1):c.2298G>A (p.Trp766Ter)	CRB1 (W654* +2 more)	Single nucleotide variant (nonsense +2 more)	CRB1-related maculopathy	GLikely pathogenic
Select item 1048129	NM_000180.4(GUCY2D):c.929C>A (p.Thr310Asn)	GUCY2D (T310N)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 1	GLikely pathogenic
Select item 1048128	NM_001384910.1(GUCA1A):c.333G>C (p.Glu111Asp)	GUCA1A, GUCA1ANB-GUCA1A (E111D)	Single nucleotide variant (missense variant)	Cone dystrophy 3	GLikely pathogenic
Select item 1048127	NM_000350.3(ABCA4):c.727_728dup (p.Tyr245fs)	ABCA4 (Y245fs)	Microsatellite (frameshift variant)	Cone-rod dystrophy 3	GLikely pathogenic
Select item 1048126	NM_000350.3(ABCA4):c.[3322C>T;6320G>A]	ABCA4 (R1108C +3 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 1048125	NM_000350.3(ABCA4):c.4383G>C (p.Trp1461Cys)	ABCA4 (W1461C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1048124	NM_000350.3(ABCA4):c.4609del (p.Thr1537fs)	ABCA4 (T1537fs)	Deletion (frameshift variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 1048123	NM_001034853.2(RPGR):c.2819_2838dup (p.Glu947fs)	RPGR (E947fs)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa 3	GLikely pathogenic
Select item 1048122	NM_000350.3(ABCA4):c.1742C>A (p.Thr581Asn)	ABCA4 (T581N)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 1048121	NM_004183.4(BEST1):c.907G>T (p.Asp303Tyr)	BEST1 (D197Y +3 more)	Single nucleotide variant (missense variant +3 more)	Vitelliform macular dystrophy 2	GLikely pathogenic
Select item 1048120	NM_000350.3(ABCA4):c.3179A>C (p.Gln1060Pro)	ABCA4 (Q1060P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1048119	NM_000350.3(ABCA4):c.4958G>A (p.Gly1653Glu)	ABCA4, LOC126805793 (G1653E +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 1004951	NM_004183.4(BEST1):c.638A>G (p.Glu213Gly)	BEST1 (E107G +2 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive bestrophinopathy +1 more	GLikely pathogenic
Select item 1000328	NM_000350.3(ABCA4):c.5691G>T (p.Gln1897His)	ABCA4 (Q1897H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 989396	Single allele	TGDS, GPR180	Deletion	Congenital miosis	GPathogenic
Select item 989392	NM_001034853.2(RPGR):c.2457_2460del (p.Glu820fs)	RPGR (E820fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 3	GPathogenic
Select item 989391	NM_001034853.2(RPGR):c.2470_2471del (p.Gly824fs)	RPGR (G824fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 3	GPathogenic
Select item 989390	NM_001034853.2(RPGR):c.2937_2938del (p.Glu980fs)	RPGR (E980fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia +3 more	GPathogenic/Likely pathogenic
Select item 973778	NM_001453.3(FOXC1):c.697del (p.Cys233fs)	FOXC1 (C233fs)	Deletion (frameshift variant)	Glaucoma of childhood	GPathogenic
Select item 973777	GRCh37/hg19 6p25.3(chr6:1347995-1713458)x3	FOXC1, FOXF2 +2 more	Copy number gain	Late onset congenital glaucoma	GPathogenic
Select item 973776	GRCh37/hg19 6p25.3(chr6:1318643-1837594)x3	FOXC1, FOXF2 +2 more	Copy number gain	Anterior segment dysgenesis 3	GPathogenic
Select item 973775	NM_001453.3(FOXC1):c.89C>T (p.Ala30Val)	FOXC1 (A30V)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 3	GUncertain significance
Select item 973774	NM_000104.4(CYP1B1):c.1460T>C (p.Leu487Pro)	CYP1B1 (L487P)	Single nucleotide variant (missense variant)	Glaucoma 3A	GPathogenic
Select item 973773	NM_000104.4(CYP1B1):c.1044-3C>G	CYP1B1	Single nucleotide variant (intron variant)	Glaucoma 3A	GPathogenic
Select item 971980	NM_000322.5(PRPH2):c.605G>A (p.Gly202Glu)	PRPH2 (G202E)	Single nucleotide variant (missense variant)	PRPH2-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 966011	NM_000350.3(ABCA4):c.735T>G (p.Tyr245Ter)	ABCA4 (Y245*)	Single nucleotide variant (nonsense)	Cone-rod dystrophy 3 +1 more	GPathogenic/Likely pathogenic
Select item 963360	NM_201253.3(CRB1):c.1472A>T (p.Asp491Val)	CRB1 (D379V +2 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +2 more	GConflicting classifications of pathogenicity
Select item 962776	NM_004183.4(BEST1):c.388C>A (p.Arg130Ser)	BEST1 (R24S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 959914	NM_000350.3(ABCA4):c.61C>T (p.Gln21Ter)	ABCA4 (Q21*)	Single nucleotide variant (nonsense)	Severe early-childhood-onset retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 930839	NM_000350.3(ABCA4):c.676C>A (p.Arg226Ser)	ABCA4 (R226S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 915451	NM_031433.4(MFRP):c.899-3C>A	C1QTNF5, MFRP	Single nucleotide variant (intron variant)	Nanophthalmos 2	GPathogenic
Select item 915450	NM_001111.5(ADAR):c.2720A>G (p.Asn907Ser)	ADAR, LOC126805874 (N586S +5 more)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 6 +1 more	GUncertain significance
Select item 915449	NM_031433.4(MFRP):c.1180G>A (p.Val394Met)	C1QTNF5, MFRP (V394M)	Single nucleotide variant (5 prime UTR variant +1 more)	Nanophthalmos 2	GPathogenic
Select item 915448	NM_001195129.2(PRSS56):c.1202C>A (p.Ala401Glu)	PRSS56 (A401E +1 more)	Single nucleotide variant (missense variant)	Isolated microphthalmia 6	GPathogenic
Select item 915447	NM_031433.4(MFRP):c.497C>T (p.Pro166Leu)	C1QTNF5, MFRP (P166L)	Single nucleotide variant (5 prime UTR variant +1 more)	Isolated microphthalmia 5	GLikely pathogenic
Select item 866210	NM_001298.3(CNGA3):c.1126G>A (p.Glu376Lys)	CNGA3 (E358K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 866194	NM_201253.3(CRB1):c.547T>C (p.Cys183Arg)	CRB1 (C114R +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 866097	NM_001034853.2(RPGR):c.2655_2656del (p.Glu886fs)	RPGR (E886fs)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic
Select item 864383	NM_000554.6(CRX):c.118C>T (p.Arg40Trp)	CRX (R40W)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 854791	NM_000350.3(ABCA4):c.247_250dup (p.Ser84fs)	ABCA4 (S84fs)	Duplication (frameshift variant)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 843111	NM_001297.5(CNGB1):c.2662G>A (p.Ala888Thr)	CNGB1 (A888T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 841667	NM_001012720.2(RGR):c.236G>A (p.Arg79Gln)	RGR (R79H +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 44 +1 more	GConflicting classifications of pathogenicity
Select item 839537	NM_014014.5(SNRNP200):c.1634G>A (p.Arg545His)	SNRNP200 (R545H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 838547	NM_000350.3(ABCA4):c.2947A>G (p.Thr983Ala)	ABCA4 (T983A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 813140	NM_000350.3(ABCA4):c.5329A>T (p.Met1777Leu)	ABCA4 (M1777L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 812674	NM_025136.4(OPA3):c.43G>C (p.Gly15Arg)	LOC130064709, OPA3 (G15R)	Single nucleotide variant (missense variant)	Foveal hypoplasia	GUncertain significance
Select item 812673	NM_145178.4(ATOH7):c.176C>T (p.Ala59Val)	ATOH7 (A59V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 812672	NM_145178.4(ATOH7):c.175G>A (p.Ala59Thr)	ATOH7 (A59T)	Single nucleotide variant (missense variant)	Foveal hypoplasia +1 more	GPathogenic
Select item 812411	NM_001034853.2(RPGR):c.2790_2791del (p.Glu931fs)	RPGR (E931fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia +2 more	GPathogenic
Select item 812409	NM_001034853.2(RPGR):c.2964_2965del (p.Glu989fs)	RPGR (E989fs)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic
Select item 809626	NM_006017.3(PROM1):c.1142-1G>A	PROM1	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 801518	NM_000350.3(ABCA4):c.1846G>A (p.Glu616Lys)	ABCA4 (E616K)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 635155	NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter)	CRB1 (R744* +2 more)	Single nucleotide variant (nonsense +2 more)	Leber congenital amaurosis 8 +3 more	GPathogenic/Likely pathogenic
Select item 634547	NM_000350.3(ABCA4):c.5172G>A (p.Trp1724Ter)	ABCA4 (W1724* +1 more)	Single nucleotide variant (nonsense)	ABCA4-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 631618	NM_000350.3(ABCA4):c.2401G>A (p.Ala801Thr)	ABCA4 (A801T +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 596480	NM_001298.3(CNGA3):c.1687C>T (p.Arg563Cys)	CNGA3 (R563C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic

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