"Blueprint Genetics"[submitter] AND "ABCA4"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 866510	NM_000350.3(ABCA4):c.6817-2A>G	ABCA4	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 866026	NM_000350.3(ABCA4):c.6806G>A (p.Arg2269Gln)	ABCA4 (R2269Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 283573	NM_000350.3(ABCA4):c.6729+5_6729+19del	ABCA4	Deletion (intron variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 99487	NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val)	ABCA4 (L2241V +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 866115	NM_000350.3(ABCA4):c.6718A>G (p.Thr2240Ala)	ABCA4 (T2240A +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 99481	NM_000350.3(ABCA4):c.6686T>C (p.Leu2229Pro)	ABCA4 (L2229P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 867162	NM_000350.3(ABCA4):c.6579C>T (p.Phe2193=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 866383	NM_000350.3(ABCA4):c.6510dup (p.Ile2171fs)	ABCA4 (I2171fs)	Duplication (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 377410	NM_000350.3(ABCA4):c.6498C>T (p.Ile2166=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 865847	NM_000350.3(ABCA4):c.6494A>G (p.Tyr2165Cys)	ABCA4 (Y2165C +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 866940	NM_000350.3(ABCA4):c.6455G>T (p.Gly2152Val)	ABCA4 (G2152V +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 374182	NM_000350.3(ABCA4):c.6453G>T (p.Met2151Ile)	ABCA4 (M2151I +1 more)	Single nucleotide variant (missense variant)	Visual impairment +3 more	GUncertain significance
Select item 99463	NM_000350.3(ABCA4):c.6449G>A (p.Cys2150Tyr)	ABCA4 (C2150Y +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 99460	NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter)	ABCA4 (R2149* +1 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 19 +5 more	GPathogenic
Select item 99457	NM_000350.3(ABCA4):c.6391G>A (p.Glu2131Lys)	ABCA4 (E2131K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 635989	NM_000350.3(ABCA4):c.6386+1G>A	ABCA4	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 866942	NM_000350.3(ABCA4):c.6380C>T (p.Ser2127Phe)	ABCA4 (S2127F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 99452	NM_000350.3(ABCA4):c.6342G>A (p.Val2114=)	ABCA4	Single nucleotide variant (synonymous variant)	Age related macular degeneration 2 +6 more	GPathogenic/Likely pathogenic
Select item 99448	NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)	ABCA4 (R2107H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 635988	NM_000350.3(ABCA4):c.6319C>T (p.Arg2107Cys)	ABCA4 (R2107C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 377409	NM_000350.3(ABCA4):c.6317G>A (p.Arg2106His)	ABCA4 (R2106H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 99447	NM_000350.3(ABCA4):c.6316C>T (p.Arg2106Cys)	ABCA4 (R2106C +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 843110	NM_000350.3(ABCA4):c.6285_6286inv (p.Glu2096Lys)	ABCA4 (E2096K +1 more)	Inversion (missense variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 866171	NM_000350.3(ABCA4):c.6282+9G>A	ABCA4	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 855992	NM_000350.3(ABCA4):c.6250G>A (p.Ala2084Thr)	ABCA4 (A2084T +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
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 99438	NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp)	ABCA4 (R2077W +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 3 +2 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)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 689736	NM_000350.3(ABCA4):c.6221G>T (p.Gly2074Val)	ABCA4 (G2074V +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 866298	NM_000350.3(ABCA4):c.6213C>G (p.Tyr2071Ter)	ABCA4 (Y2071* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 867176	NM_000350.3(ABCA4):c.6208_6209delinsCA (p.Thr2070Gln)	ABCA4 (T2070Q +1 more)	Indel (missense variant)	not provided +1 more	GUncertain significance
Select item 865907	NM_000350.3(ABCA4):c.6191C>T (p.Ala2064Val)	ABCA4 (A2064V +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
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 specified +12 more	GConflicting classifications of pathogenicity
Select item 143076	NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln)	ABCA4 (R2040Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 99431	NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter)	ABCA4 (R2040* +1 more)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic
Select item 99430	NM_000350.3(ABCA4):c.6112C>T (p.Arg2038Trp)	ABCA4 (R2038W +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +2 more	GPathogenic
Select item 866865	NM_000350.3(ABCA4):c.6110C>T (p.Ala2037Val)	ABCA4 (A2037V +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 867188	NM_000350.3(ABCA4):c.6095A>G (p.His2032Arg)	ABCA4 (H2032R +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GPathogenic
Select item 866474	NM_000350.3(ABCA4):c.6094C>T (p.His2032Tyr)	ABCA4 (H2032Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 866538	NM_000350.3(ABCA4):c.6091G>A (p.Glu2031Lys)	ABCA4 (E2031K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 99428	NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)	ABCA4 (R2030Q +1 more)	Single nucleotide variant (missense variant)	ABCA4-related disorder +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)	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 865769	NM_000350.3(ABCA4):c.6005+1G>A	ABCA4	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
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 835388	NM_000350.3(ABCA4):c.5992G>A (p.Val1998Ile)	ABCA4 (V1998I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 866385	NM_000350.3(ABCA4):c.5951T>G (p.Met1984Arg)	ABCA4 (M1984R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 806158	NM_000350.3(ABCA4):c.5935A>G (p.Thr1979Ala)	ABCA4 (T1979A +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 867115	NM_000350.3(ABCA4):c.5929G>C (p.Gly1977Arg)	ABCA4 (G1977R +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 99421	NM_000350.3(ABCA4):c.5929G>A (p.Gly1977Ser)	ABCA4 (G1977S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 99419	NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer)	ABCA4	Deletion (nonsense +1 more)	Severe early-childhood-onset retinal dystrophy +5 more	GPathogenic
Select item 865807	NM_000350.3(ABCA4):c.5915del (p.Gly1972fs)	ABCA4 (G1972fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 7892	NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe)	ABCA4 (L1970F +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 502303	NM_000350.3(ABCA4):c.5899-2del	ABCA4	Deletion (splice acceptor variant)	Retinal dystrophy +1 more	GPathogenic
Select item 377408	NM_000350.3(ABCA4):c.5898+1G>A	ABCA4	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa +2 more	GPathogenic
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 865843	NM_000350.3(ABCA4):c.5846del (p.Gly1949fs)	ABCA4 (G1949fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 867010	NM_000350.3(ABCA4):c.5824G>C (p.Glu1942Gln)	ABCA4 (E1942Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 812196	NM_000350.3(ABCA4):c.5822A>C (p.His1941Pro)	ABCA4 (H1941P +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 866996	NM_000350.3(ABCA4):c.5791G>A (p.Gly1931Ser)	ABCA4 (G1931S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 867049	NM_000350.3(ABCA4):c.5773A>G (p.Arg1925Gly)	ABCA4 (R1925G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 865829	NM_000350.3(ABCA4):c.5719_5720delinsTT (p.Ala1907Phe)	ABCA4 (A1907F +1 more)	Indel (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866197	NM_000350.3(ABCA4):c.5714+19C>A	ABCA4	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
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 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 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 867094	NM_000350.3(ABCA4):c.5584G>A (p.Gly1862Ser)	ABCA4 (G1862S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 866245	NM_000350.3(ABCA4):c.5580del (p.Phe1861fs)	ABCA4 (F1861fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 493043	NM_000350.3(ABCA4):c.5560G>T (p.Val1854Leu)	ABCA4 (V1854L +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy +2 more	GUncertain significance
Select item 866743	NM_000350.3(ABCA4):c.5519G>C (p.Cys1840Ser)	ABCA4 (C1840S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 99381	NM_000350.3(ABCA4):c.5512C>T (p.His1838Tyr)	ABCA4 (H1838Y +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 92870	NM_000350.3(ABCA4):c.5461-10T>C	ABCA4	Single nucleotide variant (intron variant)	Retinal dystrophy +7 more	GPathogenic/Likely pathogenic
Select item 867161	NM_000350.3(ABCA4):c.5460+1G>T	ABCA4	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 866622	NM_000350.3(ABCA4):c.5418C>A (p.Ser1806Arg)	ABCA4 (S1806R +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
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 99372	NM_000350.3(ABCA4):c.5395A>G (p.Asn1799Asp)	ABCA4 (N1799D +1 more)	Single nucleotide variant (missense variant)	not provided +1 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 866616	NM_000350.3(ABCA4):c.5361C>T (p.Val1787=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 7912	NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala)	ABCA4 (P1780A +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 99370	NM_000350.3(ABCA4):c.5337C>G (p.Tyr1779Ter)	ABCA4 (Y1779* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 236129	NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val)	ABCA4 (A1773V +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic
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 866390	NM_000350.3(ABCA4):c.5313-2A>G	ABCA4	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy	GLikely pathogenic
Select item 236128	NM_000350.3(ABCA4):c.5312+1G>A	ABCA4	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic
Select item 866504	NM_000350.3(ABCA4):c.5308T>G (p.Tyr1770Asp)	ABCA4 (Y1770D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 502651	NM_000350.3(ABCA4):c.5289del (p.Val1764fs)	ABCA4 (V1764fs)	Deletion (frameshift variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 377405	NM_000350.3(ABCA4):c.5282C>G (p.Pro1761Arg)	ABCA4 (P1761R +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 99359	NM_000350.3(ABCA4):c.5222_5232del (p.Leu1741fs)	ABCA4 (L1741fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 866980	NM_000350.3(ABCA4):c.5203del (p.Tyr1735fs)	ABCA4 (Y1735fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 438100	NM_000350.3(ABCA4):c.5196+1137G>A	ABCA4	Single nucleotide variant (intron variant)	Cone-rod dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 516809	NM_000350.3(ABCA4):c.5196+1136C>A	ABCA4	Single nucleotide variant (intron variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
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 99351	NM_000350.3(ABCA4):c.5196+1G>A	ABCA4	Single nucleotide variant (splice donor variant)	Retinal dystrophy +3 more	GPathogenic
Select item 236125	NM_000350.3(ABCA4):c.5189G>A (p.Trp1730Ter)	ABCA4 (W1730* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 99350	NM_000350.3(ABCA4):c.5186T>C (p.Leu1729Pro)	ABCA4 (L1729P +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 374183	NM_000350.3(ABCA4):c.5175dup (p.Thr1726fs)	ABCA4 (T1726fs)	Duplication (frameshift variant)	Age related macular degeneration 2 +4 more	GPathogenic/Likely pathogenic
Select item 866023	NM_000350.3(ABCA4):c.5172G>T (p.Trp1724Cys)	ABCA4 (W1724C +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 99349	NM_000350.3(ABCA4):c.5161_5162del (p.Thr1721fs)	ABCA4 (T1721fs)	Deletion (frameshift variant)	Retinal dystrophy +1 more	GPathogenic

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