"Ambry Genetics"[submitter] AND "ABCA4"[gene] - ClinVar

Search results

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3103055	NM_000350.3(ABCA4):c.6626A>G (p.Gln2209Arg)	ABCA4 (Q2209R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3103010	NM_000350.3(ABCA4):c.6588T>G (p.Ser2196Arg)	ABCA4 (S2196R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480886	NM_000350.3(ABCA4):c.6561G>T (p.Gln2187His)	ABCA4 (Q2187H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336141	NM_000350.3(ABCA4):c.6491G>A (p.Gly2164Asp)	ABCA4 (G2164D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1044964	NM_000350.3(ABCA4):c.6334G>A (p.Val2112Ile)	ABCA4 (V2112I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 2282295	NM_000350.3(ABCA4):c.6103C>T (p.Leu2035Phe)	ABCA4 (L2035F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 502046	NM_000350.3(ABCA4):c.6040A>G (p.Met2014Val)	ABCA4 (M2014V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1503073	NM_000350.3(ABCA4):c.6038A>G (p.Asn2013Ser)	ABCA4 (N2013S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1039388	NM_000350.3(ABCA4):c.5959G>A (p.Gly1987Arg)	ABCA4 (G1987R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1470554	NM_000350.3(ABCA4):c.5888G>A (p.Arg1963His)	ABCA4 (R1963H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 7888	NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	ABCA4 (G1961E +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +13 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance
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 1055208	NM_000350.3(ABCA4):c.5618A>G (p.Asp1873Gly)	ABCA4 (D1873G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2229759	NM_000350.3(ABCA4):c.5564C>T (p.Thr1855Ile)	ABCA4 (T1855I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 874749	NM_000350.3(ABCA4):c.5479G>A (p.Ala1827Thr)	ABCA4 (A1827T +1 more)	Single nucleotide variant (missense variant)	ABCA4-Related Disorders +1 more	GUncertain significance
Select item 2256101	NM_000350.3(ABCA4):c.5336A>T (p.Tyr1779Phe)	ABCA4 (Y1779F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 955425	NM_000350.3(ABCA4):c.5273A>G (p.Glu1758Gly)	ABCA4 (E1758G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2279902	NM_000350.3(ABCA4):c.4994A>G (p.Lys1665Arg)	ABCA4, LOC126805793 (K1665R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247525	NM_000350.3(ABCA4):c.4909G>T (p.Ala1637Ser)	ABCA4, LOC126805793 (A1637S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595178	NM_000350.3(ABCA4):c.4760T>C (p.Met1587Thr)	ABCA4, LOC126805793 (M1587T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 502045	NM_000350.3(ABCA4):c.4730T>C (p.Val1577Ala)	ABCA4, LOC126805793 (V1577A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 99303	NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met)	ABCA4 (T1526M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 502047	NM_000350.3(ABCA4):c.4529C>T (p.Pro1510Leu)	ABCA4 (P1510L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 99266	NM_000350.3(ABCA4):c.4253+4C>T	ABCA4	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 3102365	NM_000350.3(ABCA4):c.4183C>T (p.Pro1395Ser)	ABCA4 (P1321S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1016200	NM_000350.3(ABCA4):c.4132G>A (p.Val1378Met)	ABCA4 (V1378M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2618737	NM_000350.3(ABCA4):c.4115A>C (p.Asp1372Ala)	ABCA4 (D1372A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547343	NM_000350.3(ABCA4):c.4090C>A (p.Gln1364Lys)	ABCA4 (Q1364K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1415352	NM_000350.3(ABCA4):c.4067A>C (p.Gln1356Pro)	ABCA4 (Q1356P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1512314	NM_000350.3(ABCA4):c.4037C>T (p.Thr1346Met)	ABCA4 (T1346M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1034592	NM_000350.3(ABCA4):c.4008G>T (p.Glu1336Asp)	ABCA4 (E1336D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2248689	NM_000350.3(ABCA4):c.3992G>T (p.Gly1331Val)	ABCA4 (G1331V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1349185	NM_000350.3(ABCA4):c.3974C>T (p.Pro1325Leu)	ABCA4 (P1325L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2410215	NM_000350.3(ABCA4):c.3904C>T (p.Pro1302Ser)	ABCA4 (P1302S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1559116	NM_000350.3(ABCA4):c.3889G>A (p.Val1297Ile)	ABCA4 (V1297I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1387531	NM_000350.3(ABCA4):c.3860C>T (p.Ala1287Val)	ABCA4, LOC126805794 (A1287V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3101957	NM_000350.3(ABCA4):c.3723A>C (p.Arg1241Ser)	ABCA4, LOC126805794 (R1167S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481015	NM_000350.3(ABCA4):c.3673A>T (p.Ile1225Phe)	ABCA4, LOC126805794 (I1225F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1012000	NM_000350.3(ABCA4):c.3619G>A (p.Glu1207Lys)	ABCA4, LOC126805794 (E1207K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 298249	NM_000350.3(ABCA4):c.3586A>T (p.Thr1196Ser)	ABCA4 (T1196S +1 more)	Single nucleotide variant (missense variant)	Stargardt Disease, Recessive +6 more	GUncertain significance
Select item 73982	NM_000350.3(ABCA4):c.3539C>T (p.Ser1180Leu)	ABCA4 (S1180L +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 999300	NM_000350.3(ABCA4):c.3372C>G (p.Asp1124Glu)	ABCA4 (D1124E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3101713	NM_000350.3(ABCA4):c.3357C>G (p.His1119Gln)	ABCA4 (H1119Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2069631	NM_000350.3(ABCA4):c.3119T>C (p.Leu1040Pro)	ABCA4 (L1040P +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GUncertain significance
Select item 3101644	NM_000350.3(ABCA4):c.3002T>C (p.Val1001Ala)	ABCA4 (V927A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3101629	NM_000350.3(ABCA4):c.2767C>G (p.Pro923Ala)	ABCA4 (P849A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 849603	NM_000350.3(ABCA4):c.2759G>A (p.Arg920His)	ABCA4 (R920H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1016904	NM_000350.3(ABCA4):c.2711C>T (p.Thr904Met)	ABCA4 (T904M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 7879	NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)	ABCA4 (G863A +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +8 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance
Select item 2253673	NM_000350.3(ABCA4):c.2376G>C (p.Lys792Asn)	ABCA4 (K792N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532232	NM_000350.3(ABCA4):c.2348A>G (p.Gln783Arg)	ABCA4 (Q783R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 858235	NM_000350.3(ABCA4):c.2267C>T (p.Ser756Phe)	ABCA4 (S756F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2487630	NM_000350.3(ABCA4):c.2134A>G (p.Ile712Val)	ABCA4 (I712V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 866280	NM_000350.3(ABCA4):c.2126C>T (p.Ser709Leu)	ABCA4 (S709L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3101411	NM_000350.3(ABCA4):c.2089T>C (p.Trp697Arg)	ABCA4 (W697R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2981423	NM_000350.3(ABCA4):c.1877C>T (p.Ala626Val)	ABCA4 (A626V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 236084	NM_000350.3(ABCA4):c.1692A>G (p.Pro564=)	ABCA4	Single nucleotide variant (synonymous variant)	Macular degeneration +8 more	GConflicting classifications of pathogenicity
Select item 875836	NM_000350.3(ABCA4):c.1615C>G (p.Leu539Val)	ABCA4 (L539V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 236083	NM_000350.3(ABCA4):c.1614C>T (p.Ala538=)	ABCA4	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +9 more	GConflicting classifications of pathogenicity
Select item 1005777	NM_000350.3(ABCA4):c.1543C>A (p.Gln515Lys)	ABCA4 (Q515K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 298259	NM_000350.3(ABCA4):c.1493A>G (p.Asp498Gly)	ABCA4 (D498G)	Single nucleotide variant (missense variant)	ABCA4-Related Disorders +6 more	GUncertain significance
Select item 1137749	NM_000350.3(ABCA4):c.1477G>A (p.Asp493Asn)	ABCA4 (D493N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 876828	NM_000350.3(ABCA4):c.1460G>A (p.Arg487Gln)	ABCA4 (R487Q)	Single nucleotide variant (missense variant)	ABCA4-Related Disorders +3 more	GConflicting classifications of pathogenicity
Select item 2322963	NM_000350.3(ABCA4):c.1457C>A (p.Pro486His)	ABCA4 (P486H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 99052	NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys)	ABCA4 (E471K)	Single nucleotide variant (missense variant)	ABCA4-Related Disorders +6 more	GConflicting classifications of pathogenicity
Select item 1390928	NM_000350.3(ABCA4):c.1317G>C (p.Trp439Cys)	ABCA4 (W439C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 866585	NM_000350.3(ABCA4):c.1302del (p.Gln437fs)	ABCA4 (Q437fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 1026028	NM_000350.3(ABCA4):c.1153A>G (p.Ile385Val)	ABCA4 (I385V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2236298	NM_000350.3(ABCA4):c.1142C>T (p.Pro381Leu)	ABCA4 (P381L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495001	NM_000350.3(ABCA4):c.1057T>C (p.Ser353Pro)	ABCA4 (S353P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256903	NM_000350.3(ABCA4):c.923G>A (p.Gly308Asp)	ABCA4 (G308D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3103137	NM_000350.3(ABCA4):c.839T>A (p.Met280Lys)	ABCA4 (M280K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 298265	NM_000350.3(ABCA4):c.791G>A (p.Arg264His)	ABCA4 (R264H)	Single nucleotide variant (missense variant)	Stargardt Disease, Recessive +6 more	GConflicting classifications of pathogenicity
Select item 864494	NM_000350.3(ABCA4):c.772C>T (p.Pro258Ser)	ABCA4 (P258S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2613006	NM_000350.3(ABCA4):c.640A>T (p.Ile214Phe)	ABCA4 (I214F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 866421	NM_000350.3(ABCA4):c.629T>A (p.Leu210Gln)	ABCA4 (L210Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1042537	NM_000350.3(ABCA4):c.571T>A (p.Phe191Ile)	ABCA4 (F191I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 99310	NM_000350.3(ABCA4):c.466A>G (p.Ile156Val)	ABCA4 (I156V)	Single nucleotide variant (missense variant)	ABCA4-related condition +8 more	GConflicting classifications of pathogenicity
Select item 806170	NM_000350.3(ABCA4):c.419G>C (p.Arg140Pro)	ABCA4 (R140P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2331641	NM_000350.3(ABCA4):c.413C>A (p.Thr138Asn)	ABCA4 (T138N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366770	NM_000350.3(ABCA4):c.354G>C (p.Glu118Asp)	ABCA4 (E118D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 82