"Institute of Medical Molecular Genetics, University of Zurich"[submit - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 99476	NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter)	ABCA4 (Q2220* +1 more)	Single nucleotide variant (nonsense)	not provided +3 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 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 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 99439	NM_000350.3(ABCA4):c.6238_6239del (p.Ser2080fs)	ABCA4 (S2080fs)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 7884	NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)	ABCA4 (V2050L +1 more)	Single nucleotide variant (missense variant)	not specified +12 more	GConflicting classifications of pathogenicity
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 7907	NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)	ABCA4 (R2030* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +8 more	GPathogenic/Likely pathogenic
Select item 7882	NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)	ABCA4 (L2027F +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +6 more	GPathogenic/Likely pathogenic
Select item 236142	NM_000350.3(ABCA4):c.5942C>G (p.Thr1981Arg)	ABCA4 (T1981R +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +1 more	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 7888	NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	ABCA4 (G1961E +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +12 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance
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 99403	NM_000350.3(ABCA4):c.5714+5G>A	ABCA4	Single nucleotide variant (intron variant)	ABCA4-related disorder +7 more	GPathogenic/Likely pathogenic
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 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 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 99390	NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile)	ABCA4 (N1868I +1 more)	Single nucleotide variant (missense variant)	Retinitis Pigmentosa, Recessive +10 more	GConflicting classifications of pathogenicity
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 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 99373	NM_000350.3(ABCA4):c.5413A>G (p.Asn1805Asp)	ABCA4 (N1805D +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 99371	NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp)	ABCA4 (A1794D +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely 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 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 99367	NM_000350.3(ABCA4):c.5316G>A (p.Trp1772Ter)	ABCA4 (W1772* +1 more)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic/Likely 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 236127	NM_000350.3(ABCA4):c.5196+1056A>G	ABCA4	Single nucleotide variant (intron variant)	Severe early-childhood-onset retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 99355	NM_000350.3(ABCA4):c.5196+2T>C	ABCA4	Single nucleotide variant (splice donor variant)	Retinal dystrophy +1 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 99338	NM_000350.3(ABCA4):c.5018+2T>C	ABCA4, LOC126805793	Single nucleotide variant (splice donor variant)	Retinal dystrophy +2 more	GPathogenic/Likely 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 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 99331	NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln)	ABCA4, LOC126805793 (R1640Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 427117	NM_000350.3(ABCA4):c.4873C>T (p.His1625Tyr)	ABCA4, LOC126805793 (H1625Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 236121	NM_000350.3(ABCA4):c.4739T>C (p.Leu1580Ser)	LOC126805793, ABCA4 (L1580S +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +1 more	GConflicting classifications of pathogenicity
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 511074	NM_000350.3(ABCA4):c.4539+2064C>T	ABCA4	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 99284	NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg)	ABCA4 (C1488R +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely 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 236113	NM_000350.3(ABCA4):c.4352+1G>A	ABCA4	Single nucleotide variant (splice donor variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 99278	NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His)	ABCA4 (R1443H +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 99265	NM_000350.3(ABCA4):c.4253+43G>A	ABCA4	Single nucleotide variant (intron variant)	Severe early-childhood-onset retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 7904	NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)	ABCA4 (P1380L +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +8 more	GPathogenic/Likely 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 1048162	NM_000350.3(ABCA4):c.3323del (p.Arg1108fs)	ABCA4 (R1108fs)	Deletion (frameshift variant)	Severe early-childhood-onset retinal dystrophy	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 372290	NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs)	ABCA4 (S1071fs)	Duplication (frameshift variant)	Severe early-childhood-onset retinal dystrophy +2 more	GPathogenic/Likely 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 7901	NM_000350.2(ABCA4):c.[1622T>C;3113C>T]	ABCA4 (A1038V +2 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
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 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 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 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 99123	NM_000350.3(ABCA4):c.2291G>A (p.Cys764Tyr)	ABCA4 (C764Y)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 236090	NM_000350.3(ABCA4):c.2160+1G>T	ABCA4	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 99114	NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter)	ABCA4 (R681*)	Single nucleotide variant (nonsense)	Severe early-childhood-onset retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 99111	NM_000350.3(ABCA4):c.2005_2006del (p.Met669fs)	ABCA4 (M669fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 372289	NM_000350.3(ABCA4):c.1988G>A (p.Trp663Ter)	ABCA4 (W663*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 19 +1 more	GPathogenic/Likely pathogenic
Select item 99108	NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys)	ABCA4 (R653C)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 99096	NM_000350.3(ABCA4):c.1903C>T (p.Gln635Ter)	ABCA4 (Q635*)	Single nucleotide variant (nonsense)	not provided +1 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 99087	NM_000350.3(ABCA4):c.1819G>A (p.Gly607Arg)	ABCA4 (G607R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 99084	NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)	ABCA4 (R602W)	Single nucleotide variant (missense variant)	Age related macular degeneration 2 +8 more	GPathogenic/Likely 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 433181	NM_000350.3(ABCA4):c.1621_1622del (p.Leu541fs)	ABCA4 (L541fs)	Microsatellite (frameshift variant)	Severe early-childhood-onset retinal dystrophy	GPathogenic/Likely 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 99505	NM_000350.3(ABCA4):c.768G>T (p.Val256=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided +7 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 1048127	NM_000350.3(ABCA4):c.727_728dup (p.Tyr245fs)	ABCA4 (Y245fs)	Microsatellite (frameshift variant)	Cone-rod dystrophy 3	GLikely 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 7898	NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)	ABCA4 (R212C)	Single nucleotide variant (missense variant)	Retinal dystrophy +5 more	GPathogenic/Likely 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 99347	NM_000350.3(ABCA4):c.514G>A (p.Gly172Ser)	ABCA4 (G172S)	Single nucleotide variant (missense variant)	Stargardt disease +4 more	GConflicting classifications of pathogenicity
Select item 99300	NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter)	ABCA4 (R152*)	Single nucleotide variant (nonsense)	Severe early-childhood-onset retinal dystrophy +3 more	GPathogenic/Likely 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 854791	NM_000350.3(ABCA4):c.247_250dup (p.Ser84fs)	ABCA4 (S84fs)	Duplication (frameshift variant)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 99120	NM_000350.3(ABCA4):c.214G>A (p.Gly72Arg)	ABCA4 (G72R)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +3 more	GPathogenic/Likely 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 236071	NM_000350.3(ABCA4):c.160T>G (p.Cys54Gly)	ABCA4 (C54G)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 3 +3 more	GLikely 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 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 99110	NM_000350.3(ABCA4):c.1A>G (p.Met1Val)	ABCA4 (M1V)	Single nucleotide variant (missense variant +1 more)	Severe early-childhood-onset retinal dystrophy +2 more	GPathogenic/Likely pathogenic
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

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Items: 84