"Retina International"[submitter] AND "ABCA4"[gene - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 99496	NM_000350.3(ABCA4):c.6813C>T (p.Ala2271=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 99495	NM_000350.3(ABCA4):c.6788G>T (p.Arg2263Leu)	ABCA4 (R2263L +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 99494	NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile)	ABCA4 (S2255I +1 more)	Single nucleotide variant (missense variant)	not specified +11 more	GBenign
Select item 99493	NM_000350.3(ABCA4):c.6750del (p.Lys2250fs)	ABCA4 (K2250fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 99492	NM_000350.3(ABCA4):c.6732G>A (p.Val2244=)	ABCA4	Single nucleotide variant (synonymous variant)	ABCA4-Related Disorders +7 more	GConflicting classifications of pathogenicity
Select item 99491	NM_000350.3(ABCA4):c.6730-3T>C	ABCA4	Single nucleotide variant (intron variant)	ABCA4-Related Disorders +10 more	GBenign
Select item 99490	NM_000350.3(ABCA4):c.6730-27C>G	ABCA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 99489	NM_000350.3(ABCA4):c.6729+21C>T	ABCA4	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 99488	NM_000350.3(ABCA4):c.6729+1G>A	ABCA4	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 99487	NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val)	ABCA4 (L2241V +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 99483	NM_000350.3(ABCA4):c.6707_6714del (p.Val2236fs)	ABCA4 (V2236fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 99485	NM_000350.3(ABCA4):c.6709dup (p.Thr2237fs)	ABCA4 (T2237fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 99484	NM_000350.3(ABCA4):c.6708_6709insG (p.Thr2237fs)	ABCA4 (T2237fs)	Insertion (frameshift variant)	not provided	Gnot provided
Select item 99482	NM_000350.3(ABCA4):c.6693C>T (p.Ile2231=)	ABCA4	Single nucleotide variant (synonymous variant)	ABCA4-Related Disorders +2 more	GConflicting classifications of pathogenicity
Select item 99481	NM_000350.3(ABCA4):c.6686T>C (p.Leu2229Pro)	ABCA4 (L2229P +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GPathogenic
Select item 99476	NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter)	ABCA4 (Q2220* +1 more)	Single nucleotide variant (nonsense)	ABCA4-related condition +3 more	GPathogenic/Likely pathogenic
Select item 99473	NM_000350.3(ABCA4):c.6609C>A (p.Tyr2203Ter)	ABCA4 (Y2203* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +2 more	GPathogenic
Select item 99472	NM_000350.3(ABCA4):c.6601_6602del (p.Arg2201fs)	ABCA4 (R2201fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 99467	NM_000350.3(ABCA4):c.6545_6580del (p.Leu2182_Phe2193del)	ABCA4	Deletion (inframe_deletion +1 more)	not provided	GPathogenic
Select item 99469	NM_000350.3(ABCA4):c.6568del (p.Gln2190fs)	ABCA4 (Q2190fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 99468	NM_000350.3(ABCA4):c.6563T>C (p.Phe2188Ser)	ABCA4 (F2188S +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 99466	NM_000350.3(ABCA4):c.6519_6529del (p.Lys2175fs)	ABCA4 (K2175fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 7885	NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn)	ABCA4 (D2177N +1 more)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 99465	NM_000350.3(ABCA4):c.6498C>G (p.Ile2166Met)	ABCA4 (I2166M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 99464	NM_000350.3(ABCA4):c.6479A>G (p.Lys2160Arg)	ABCA4 (K2160R +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 99463	NM_000350.3(ABCA4):c.6449G>A (p.Cys2150Tyr)	ABCA4 (C2150Y +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 99462	NM_000350.3(ABCA4):c.6448T>C (p.Cys2150Arg)	ABCA4 (C2150R +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 99461	NM_000350.3(ABCA4):c.6446G>T (p.Arg2149Leu)	ABCA4 (R2149L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 99460	NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter)	ABCA4 (R2149* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +4 more	GPathogenic
Select item 99459	NM_000350.3(ABCA4):c.6437G>A (p.Gly2146Asp)	ABCA4 (G2146D +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 99458	NM_000350.3(ABCA4):c.6415C>T (p.Arg2139Trp)	ABCA4 (R2139W +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 99457	NM_000350.3(ABCA4):c.6391G>A (p.Glu2131Lys)	ABCA4 (E2131K +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 99456	NM_000350.3(ABCA4):c.6386+2C>G	ABCA4	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 99455	NM_000350.3(ABCA4):c.6383A>G (p.His2128Arg)	ABCA4 (H2128R +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 99453	NM_000350.3(ABCA4):c.6352del (p.Arg2118fs)	ABCA4 (R2118fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 99452	NM_000350.3(ABCA4):c.6342G>A (p.Val2114=)	ABCA4	Single nucleotide variant (synonymous variant)	ABCA4-related condition +6 more	GPathogenic/Likely pathogenic
Select item 99451	NM_000350.3(ABCA4):c.6339C>G (p.Ile2113Met)	ABCA4 (I2113M +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 99450	NM_000350.3(ABCA4):c.6329G>A (p.Trp2110Ter)	ABCA4 (W2110* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 99449	NM_000350.3(ABCA4):c.6320G>C (p.Arg2107Pro)	ABCA4 (R2107P +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 99448	NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)	ABCA4 (R2107H +1 more)	Single nucleotide variant (missense variant)	ABCA4-related condition +4 more	GConflicting classifications of pathogenicity
Select item 99447	NM_000350.3(ABCA4):c.6316C>T (p.Arg2106Cys)	ABCA4 (R2106C +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 99446	NM_000350.3(ABCA4):c.6300del (p.Met2101fs)	ABCA4 (M2101fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 99445	NM_000350.3(ABCA4):c.6286G>A (p.Glu2096Lys)	ABCA4 (E2096K +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 99444	NM_000350.3(ABCA4):c.6285T>C (p.Asp2095=)	ABCA4	Single nucleotide variant (synonymous variant)	Retinitis Pigmentosa, Recessive +7 more	GBenign
Select item 99443	NM_000350.3(ABCA4):c.6282+7G>A	ABCA4	Single nucleotide variant (intron variant)	Retinitis Pigmentosa, Recessive +10 more	GBenign/Likely benign
Select item 99442	NM_000350.3(ABCA4):c.6276G>A (p.Val2092=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 99441	NM_000350.3(ABCA4):c.6255C>T (p.Leu2085=)	ABCA4	Single nucleotide variant (synonymous variant)	ABCA4-Related Disorders +7 more	GConflicting classifications of pathogenicity
Select item 99440	NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=)	ABCA4	Single nucleotide variant (synonymous variant)	ABCA4-Related Disorders +11 more	GBenign/Likely benign
Select item 99439	NM_000350.3(ABCA4):c.6238_6239del (p.Ser2080fs)	ABCA4 (S2080fs)	Microsatellite (frameshift variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 99438	NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp)	ABCA4 (R2077W +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 99437	NM_000350.3(ABCA4):c.6229C>G (p.Arg2077Gly)	ABCA4 (R2077G +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 99436	NM_000350.3(ABCA4):c.6213C>T (p.Tyr2071=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 99435	NM_000350.3(ABCA4):c.6190G>C (p.Ala2064Pro)	ABCA4 (A2064P +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 99433	NM_000350.3(ABCA4):c.6179T>G (p.Leu2060Arg)	ABCA4 (L2060R +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 19 +4 more	GPathogenic
Select item 99432	NM_000350.3(ABCA4):c.6166A>T (p.Lys2056Ter)	ABCA4 (K2056* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +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 provided +9 more	GConflicting classifications of pathogenicity
Select item 99431	NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter)	ABCA4 (R2040* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +5 more	GPathogenic
Select item 99430	NM_000350.3(ABCA4):c.6112C>T (p.Arg2038Trp)	ABCA4 (R2038W +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic
Select item 99429	NM_000350.3(ABCA4):c.6104T>C (p.Leu2035Pro)	ABCA4 (L2035P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 99428	NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)	ABCA4 (R2030Q +1 more)	Single nucleotide variant (missense variant)	ABCA4-related condition +6 more	GPathogenic/Likely pathogenic
Select item 7907	NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)	ABCA4 (R2030* +1 more)	Single nucleotide variant (nonsense)	ABCA4-related retinopathy +9 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 99427	NM_000350.3(ABCA4):c.6076C>T (p.Leu2026=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 99426	NM_000350.3(ABCA4):c.6006-16G>A	ABCA4	Single nucleotide variant (intron variant)	not specified +5 more	GBenign
Select item 99425	NM_000350.3(ABCA4):c.6005+1G>T	ABCA4	Single nucleotide variant (splice donor variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 99424	NM_000350.3(ABCA4):c.5961_5964del (p.Asp1988fs)	ABCA4 (D1988fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 99423	NM_000350.3(ABCA4):c.5951_5952inv (p.Met1984Thr)	ABCA4 (M1984T +1 more)	Inversion (missense variant)	not provided	Gnot provided
Select item 99422	NM_000350.3(ABCA4):c.5936C>T (p.Thr1979Ile)	ABCA4 (T1979I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 99421	NM_000350.3(ABCA4):c.5929G>A (p.Gly1977Ser)	ABCA4 (G1977S +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GPathogenic
Select item 99420	NM_000350.3(ABCA4):c.5923G>C (p.Gly1975Arg)	ABCA4 (G1975R +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 99419	NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer)	ABCA4	Deletion (nonsense +1 more)	ABCA4-Related Disorders +5 more	GPathogenic
Select item 99418	NM_000350.3(ABCA4):c.5914G>A (p.Gly1972Arg)	ABCA4 (G1972R +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 7893	NM_000350.3(ABCA4):c.5912T>G (p.Leu1971Arg)	ABCA4 (L1971R +1 more)	Single nucleotide variant (missense variant)	Stargardt disease	GPathogenic
Select item 7892	NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe)	ABCA4 (L1970F +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 99417	NM_000350.3(ABCA4):c.5898+1G>T	ABCA4	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 99416	NM_000350.3(ABCA4):c.5888del (p.Arg1963fs)	ABCA4 (R1963fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 99415	NM_000350.3(ABCA4):c.5886T>C (p.Val1962=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 7888	NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	ABCA4 (G1961E +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +13 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance
Select item 99414	NM_000350.3(ABCA4):c.5868C>T (p.Asp1956=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 99413	NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu)	ABCA4 (P1948L +1 more)	Single nucleotide variant (missense variant)	ABCA4-Related Disorders +8 more	GConflicting classifications of pathogenicity
Select item 99410	NM_000350.3(ABCA4):c.5836-2del	ABCA4	Deletion (splice acceptor variant)	not provided	GPathogenic
Select item 99408	NM_000350.3(ABCA4):c.5836-11G>A	ABCA4	Single nucleotide variant (intron variant)	ABCA4-Related Disorders +10 more	GBenign/Likely benign
Select item 99409	NM_000350.3(ABCA4):c.5836-16dup	ABCA4	Duplication (intron variant)	not provided	Gnot provided
Select item 99411	NM_000350.3(ABCA4):c.5836-36TC[3]	ABCA4	Microsatellite (intron variant)	not provided	Gnot provided
Select item 99412	NM_000350.3(ABCA4):c.5836-40C>A	ABCA4	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 7911	NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro)	ABCA4 (L1940P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 99407	NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=)	ABCA4	Single nucleotide variant (synonymous variant)	not specified +11 more	GBenign/Likely benign
Select item 99406	NM_000350.3(ABCA4):c.5761G>A (p.Val1921Met)	ABCA4 (V1921M +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 99404	NM_000350.3(ABCA4):c.5715-25A>C	ABCA4	Single nucleotide variant (intron variant)	not specified +5 more	GBenign
Select item 99403	NM_000350.3(ABCA4):c.5714+5G>A	ABCA4	Single nucleotide variant (intron variant)	ABCA4-Related Disorders +7 more	GPathogenic/Likely pathogenic
Select item 99398	NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His)	ABCA4 (R1898H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 99397	NM_000350.3(ABCA4):c.5687T>A (p.Val1896Asp)	ABCA4 (V1896D +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 99396	NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=)	ABCA4	Single nucleotide variant (synonymous variant)	Retinitis Pigmentosa, Recessive +11 more	GBenign/Likely benign
Select item 99395	NM_000350.3(ABCA4):c.5668_5670del (p.Phe1890del)	ABCA4 (F1890del +1 more)	Deletion (inframe_deletion +1 more)	not provided	Gnot provided
Select item 99394	NM_000350.3(ABCA4):c.5657G>A (p.Gly1886Glu)	ABCA4 (G1886E +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 99393	NM_000350.3(ABCA4):c.5653G>A (p.Glu1885Lys)	ABCA4 (E1885K +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 99392	NM_000350.3(ABCA4):c.5651T>A (p.Val1884Glu)	ABCA4 (V1884E +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 99391	NM_000350.3(ABCA4):c.5644A>G (p.Met1882Val)	ABCA4 (M1882V +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 99390	NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile)	ABCA4 (N1868I +1 more)	Single nucleotide variant (missense variant)	ABCA4-related condition +11 more	GConflicting classifications of pathogenicity
Select item 99388	NM_000350.3(ABCA4):c.5585-1G>A	ABCA4	Single nucleotide variant (splice acceptor variant)	not provided	Gnot provided

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