"GeneDx"[submitter] AND "ABCA4"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 298215	NM_000350.3(ABCA4):c.*372A>G	ABCA4	Single nucleotide variant (3 prime UTR variant)	Macular degeneration +5 more	GBenign/Likely benign
Select item 298218	NM_000350.3(ABCA4):c.*136G>A	ABCA4	Single nucleotide variant (3 prime UTR variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 298219	NM_000350.3(ABCA4):c.*134G>A	ABCA4	Single nucleotide variant (3 prime UTR variant)	Macular degeneration +5 more	GBenign/Likely benign
Select item 1297754	NM_000350.3(ABCA4):c.6817-85C>T	ABCA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259702	NM_000350.3(ABCA4):c.6817-202T>A	ABCA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248438	NM_000350.3(ABCA4):c.6816+127C>T	ABCA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 255927	NM_000350.3(ABCA4):c.6816+28G>C	ABCA4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 372292	NM_000350.3(ABCA4):c.6816+1G>A	ABCA4	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 99494	NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile)	ABCA4 (S2255I +1 more)	Single nucleotide variant (missense variant)	not provided +11 more	GBenign
Select item 99492	NM_000350.3(ABCA4):c.6732G>A (p.Val2244=)	ABCA4	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 99491	NM_000350.3(ABCA4):c.6730-3T>C	ABCA4	Single nucleotide variant (intron variant)	Macular degeneration +10 more	GBenign
Select item 255926	NM_000350.3(ABCA4):c.6730-19G>A	ABCA4	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 99490	NM_000350.3(ABCA4):c.6730-27C>G	ABCA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209486	NM_000350.3(ABCA4):c.6730-32T>A	ABCA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272379	NM_000350.3(ABCA4):c.6729+312C>T	ABCA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195666	NM_000350.3(ABCA4):c.6729+61G>A	ABCA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1294239	NM_000350.3(ABCA4):c.6729+51C>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 provided +1 more	GBenign/Likely benign
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 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 817857	NM_000350.3(ABCA4):c.6670_6671del (p.Ser2224fs)	ABCA4 (S2224fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
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 1676856	NM_000350.3(ABCA4):c.6647C>G (p.Ala2216Gly)	ABCA4 (A2216G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 99472	NM_000350.3(ABCA4):c.6601_6602del (p.Arg2201fs)	ABCA4 (R2201fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 3338800	NM_000350.3(ABCA4):c.6559C>T (p.Gln2187Ter)	ABCA4 (Q2113* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 7885	NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn)	ABCA4 (D2177N +1 more)	Single nucleotide variant (missense variant)	Retinitis Pigmentosa, Recessive +6 more	GBenign/Likely benign
Select item 377411	NM_000350.3(ABCA4):c.6522G>A (p.Pro2174=)	ABCA4	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
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 1246469	NM_000350.3(ABCA4):c.6480-101G>A	ABCA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281877	NM_000350.3(ABCA4):c.6480-102A>G	ABCA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290308	NM_000350.3(ABCA4):c.6480-129G>C	ABCA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199690	NM_000350.3(ABCA4):c.6480-224T>C	ABCA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1240968	NM_000350.3(ABCA4):c.6479+283T>C	ABCA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213342	NM_000350.3(ABCA4):c.6479+272T>C	ABCA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283671	NM_000350.3(ABCA4):c.6479+269G>A	ABCA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263115	NM_000350.3(ABCA4):c.6479+238A>G	ABCA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706896	NM_000350.3(ABCA4):c.6479+163C>G	ABCA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1707370	NM_000350.3(ABCA4):c.6386+27G>A	ABCA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1312247	NM_000350.3(ABCA4):c.6379T>C (p.Ser2127Pro)	ABCA4 (S2127P +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 3 +4 more	GConflicting classifications of pathogenicity
Select item 2442572	NM_000350.3(ABCA4):c.6328T>C (p.Trp2110Arg)	ABCA4 (W2110R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely 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 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 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)	not provided +7 more	GBenign
Select item 417995	NM_000350.3(ABCA4):c.6284A>T (p.Asp2095Val)	ABCA4 (D2095V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1280737	NM_000350.3(ABCA4):c.6283-347G>A	ABCA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283541	NM_000350.3(ABCA4):c.6282+193C>T	ABCA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252554	NM_000350.3(ABCA4):c.6282+176C>T	ABCA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 99443	NM_000350.3(ABCA4):c.6282+7G>A	ABCA4	Single nucleotide variant (intron variant)	Age related macular degeneration 2 +10 more	GBenign/Likely benign
Select item 99441	NM_000350.3(ABCA4):c.6255C>T (p.Leu2085=)	ABCA4	Single nucleotide variant (synonymous variant)	Retinitis Pigmentosa, Recessive +6 more	GConflicting classifications of pathogenicity
Select item 99440	NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=)	ABCA4	Single nucleotide variant (synonymous variant)	Macular degeneration +11 more	GBenign/Likely benign
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 429847	NM_000350.3(ABCA4):c.6218G>C (p.Gly2073Ala)	ABCA4 (G2073A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 498228	NM_000350.3(ABCA4):c.6215G>A (p.Ser2072Asn)	ABCA4 (S2072N +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
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 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 2507050	NM_000350.3(ABCA4):c.6148-2A>G	ABCA4	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1253069	NM_000350.3(ABCA4):c.6148-184A>T	ABCA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272969	NM_000350.3(ABCA4):c.6148-215G>A	ABCA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227269	NM_000350.3(ABCA4):c.6148-242C>G	ABCA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247479	NM_000350.3(ABCA4):c.6148-297C>T	ABCA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226149	NM_000350.3(ABCA4):c.6148-389G>A	ABCA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211212	NM_000350.3(ABCA4):c.6148-403A>G	ABCA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1264682	NM_000350.3(ABCA4):c.6148-492T>C	ABCA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281494	NM_000350.3(ABCA4):c.6148-655T>C	ABCA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286264	NM_000350.3(ABCA4):c.6148-686G>A	ABCA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263278	NM_000350.3(ABCA4):c.6148-745A>G	ABCA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230070	NM_000350.3(ABCA4):c.6148-777T>C	ABCA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269648	NM_000350.3(ABCA4):c.6148-794C>T	ABCA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247328	NM_000350.3(ABCA4):c.6148-809C>T	ABCA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228893	NM_000350.3(ABCA4):c.6147+219T>A	ABCA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268120	NM_000350.3(ABCA4):c.6147+187G>C	ABCA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1037438	NM_000350.3(ABCA4):c.6146A>C (p.Lys2049Thr)	ABCA4 (K2049T +1 more)	Single nucleotide variant (missense variant)	not provided	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 1302943	NM_000350.3(ABCA4):c.6109G>A (p.Ala2037Thr)	ABCA4 (A2037T +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 236144	NM_000350.3(ABCA4):c.6077T>C (p.Leu2026Pro)	ABCA4 (L2026P +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 136235	NM_000350.3(ABCA4):c.6069T>C (p.Ile2023=)	ABCA4	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 3 +11 more	GBenign
Select item 390466	NM_000350.3(ABCA4):c.6031C>T (p.His2011Tyr)	ABCA4 (H2011Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 99426	NM_000350.3(ABCA4):c.6006-16G>A	ABCA4	Single nucleotide variant (intron variant)	Age related macular degeneration 2 +5 more	GBenign
Select item 1286383	NM_000350.3(ABCA4):c.6006-85G>A	ABCA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239884	NM_000350.3(ABCA4):c.6005+330del	ABCA4	Deletion (intron variant)	not provided	GBenign
Select item 1280552	NM_000350.3(ABCA4):c.6005+328A>G	ABCA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247414	NM_000350.3(ABCA4):c.6005+281C>T	ABCA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234027	NM_000350.3(ABCA4):c.6005+156_6005+160del	ABCA4	Deletion (intron variant)	not provided	GBenign
Select item 2098052	NM_000350.3(ABCA4):c.5981G>A (p.Gly1994Glu)	ABCA4 (G1994E +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 386389	NM_000350.3(ABCA4):c.5955C>T (p.Leu1985=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 417994	NM_000350.3(ABCA4):c.5932A>G (p.Lys1978Glu)	ABCA4 (K1978E +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +2 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)	not provided +1 more	GPathogenic

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