24[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic
Select item 438230	Single allele	ABCA4, LOC112590828 +2 more	Deletion	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
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 298216	NM_000350.3(ABCA4):c.*299G>C	ABCA4	Single nucleotide variant (3 prime UTR variant)	Macular degeneration +4 more	GConflicting classifications of pathogenicity
Select item 873737	NM_000350.3(ABCA4):c.*284T>C	ABCA4	Single nucleotide variant (3 prime UTR variant)	ABCA4-related disorder	GUncertain significance
Select item 873738	NM_000350.3(ABCA4):c.*254C>A	ABCA4	Single nucleotide variant (3 prime UTR variant)	ABCA4-related disorder	GUncertain significance
Select item 873739	NM_000350.3(ABCA4):c.*228A>T	ABCA4	Single nucleotide variant (3 prime UTR variant)	ABCA4-related disorder	GUncertain significance
Select item 298217	NM_000350.3(ABCA4):c.*147C>T	ABCA4	Single nucleotide variant (3 prime UTR variant)	Cone-Rod Dystrophy, Recessive +4 more	GUncertain significance
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 298220	NM_000350.3(ABCA4):c.*55G>T	ABCA4	Single nucleotide variant (3 prime UTR variant)	Macular degeneration +4 more	GLikely benign
Select item 298221	NM_000350.3(ABCA4):c.*26C>A	ABCA4	Single nucleotide variant (3 prime UTR variant)	Macular degeneration +4 more	GLikely benign
Select item 874697	NM_000350.3(ABCA4):c.*23C>T	ABCA4	Single nucleotide variant (3 prime UTR variant)	ABCA4-related disorder	GUncertain significance
Select item 874698	NM_000350.3(ABCA4):c.*10C>A	ABCA4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 916723	NM_000350.3(ABCA4):c.6820T>A (p.Ter2274Arg)	ABCA4	Single nucleotide variant (stop lost)	Cone-rod dystrophy 3	GUncertain significance
Select item 1455137	NM_000350.3(ABCA4):c.6817-2A>C	ABCA4	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
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 2873236	NM_000350.3(ABCA4):c.6817-9C>T	ABCA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1540238	NM_000350.3(ABCA4):c.6817-17G>A	ABCA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1988105	NM_000350.3(ABCA4):c.6817-18T>C	ABCA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2693426	NM_000350.3(ABCA4):c.6817-19A>C	ABCA4	Single nucleotide variant (intron variant)	not provided	GLikely 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 2859527	NM_000350.3(ABCA4):c.6816+11T>A	ABCA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2862772	NM_000350.3(ABCA4):c.6816+9G>A	ABCA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 857826	NM_000350.3(ABCA4):c.6816+6C>T	ABCA4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1359129	NM_000350.3(ABCA4):c.6816+5C>T	ABCA4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 424900	NM_000350.3(ABCA4):c.6816+2T>A	ABCA4	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2035425	NM_000350.3(ABCA4):c.6816+1G>C	ABCA4	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 372292	NM_000350.3(ABCA4):c.6816+1G>A	ABCA4	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1043916	NM_000350.3(ABCA4):c.6815A>G (p.Gln2272Arg)	ABCA4 (Q2272R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 99496	NM_000350.3(ABCA4):c.6813C>T (p.Ala2271=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
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 874699	NM_000350.3(ABCA4):c.6805C>T (p.Arg2269Ter)	ABCA4 (R2269* +1 more)	Single nucleotide variant (nonsense)	Cone-rod dystrophy 3 +5 more	GUncertain significance
Select item 1349893	NM_000350.3(ABCA4):c.6802A>C (p.Ser2268Arg)	ABCA4 (S2268R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2693032	NM_000350.3(ABCA4):c.6801C>G (p.Ala2267=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1138785	NM_000350.3(ABCA4):c.6795T>C (p.Ala2265=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776897	NM_000350.3(ABCA4):c.6788_6791del (p.Arg2263fs)	ABCA4 (R2263fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1015873	NM_000350.3(ABCA4):c.6788G>A (p.Arg2263Gln)	ABCA4 (R2263Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 2693339	NM_000350.3(ABCA4):c.6787C>G (p.Arg2263Gly)	ABCA4 (R2189G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 936695	NM_000350.3(ABCA4):c.6787C>T (p.Arg2263Ter)	ABCA4 (R2263* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1350445	NM_000350.3(ABCA4):c.6785C>G (p.Pro2262Arg)	ABCA4 (P2262R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2833619	NM_000350.3(ABCA4):c.6780G>C (p.Leu2260=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1933508	NM_000350.3(ABCA4):c.6775C>T (p.Pro2259Ser)	ABCA4 (P2259S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3027544	NM_000350.3(ABCA4):c.6772C>G (p.Leu2258Val)	ABCA4 (L2184V +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027539	NM_000350.3(ABCA4):c.6772C>T (p.Leu2258Phe)	ABCA4 (L2184F +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 1351362	NM_000350.3(ABCA4):c.6772C>A (p.Leu2258Ile)	ABCA4 (L2258I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1505217	NM_000350.3(ABCA4):c.6766C>A (p.His2256Asn)	ABCA4 (H2256N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2804931	NM_000350.3(ABCA4):c.6759T>G (p.Thr2253=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 99493	NM_000350.3(ABCA4):c.6750del (p.Lys2250fs)	ABCA4 (K2250fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 2818326	NM_000350.3(ABCA4):c.6747T>C (p.Ala2249=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2910113	NM_000350.3(ABCA4):c.6746C>A (p.Ala2249Asp)	ABCA4 (A2249D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992289	NM_000350.3(ABCA4):c.6735T>C (p.Phe2245=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2098035	NM_000350.3(ABCA4):c.6735del (p.Phe2245fs)	ABCA4 (F2245fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 99492	NM_000350.3(ABCA4):c.6732G>A (p.Val2244=)	ABCA4	Single nucleotide variant (synonymous variant)	Macular degeneration +6 more	GBenign/Likely benign
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 2852694	NM_000350.3(ABCA4):c.6730-9_6730-3del	ABCA4	Deletion (intron variant)	not provided	GLikely 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 1077785	NM_000350.3(ABCA4):c.6730-7C>T	ABCA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2840060	NM_000350.3(ABCA4):c.6730-16C>T	ABCA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1640663	NM_000350.3(ABCA4):c.6730-20C>T	ABCA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
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)	Retinal dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 2703671	NM_000350.3(ABCA4):c.6729+9G>A	ABCA4	Single nucleotide variant (intron variant)	not provided	GLikely 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 836905	NM_000350.3(ABCA4):c.6722T>C (p.Leu2241Pro)	ABCA4 (L2241P +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3041838	NM_000350.3(ABCA4):c.6721C>T (p.Leu2241=)	ABCA4	Single nucleotide variant (synonymous variant)	ABCA4-related disorder	GLikely benign
Select item 99487	NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val)	ABCA4 (L2241V +1 more)	Single nucleotide variant (missense variant)	Stargardt disease +2 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 2751165	NM_000350.3(ABCA4):c.6714G>A (p.Gln2238=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 99483	NM_000350.3(ABCA4):c.6707_6714del (p.Val2236fs)	ABCA4 (V2236fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 236150	NM_000350.3(ABCA4):c.6713A>G (p.Gln2238Arg)	ABCA4 (Q2238R +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
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 1109337	NM_000350.3(ABCA4):c.6708C>G (p.Val2236=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2844543	NM_000350.3(ABCA4):c.6705dup (p.Val2236fs)	ABCA4 (V2236fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2123479	NM_000350.3(ABCA4):c.6703T>C (p.Ser2235Pro)	ABCA4 (S2235P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2837166	NM_000350.3(ABCA4):c.6684_6699del (p.Leu2229fs)	ABCA4 (L2229fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1692998	NM_000350.3(ABCA4):c.6698A>T (p.Glu2233Val)	ABCA4 (E2233V +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 948653	NM_000350.3(ABCA4):c.6694G>A (p.Glu2232Lys)	ABCA4 (E2232K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 99482	NM_000350.3(ABCA4):c.6693C>T (p.Ile2231=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2167230	NM_000350.3(ABCA4):c.6691A>G (p.Ile2231Val)	ABCA4 (I2231V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2850188	NM_000350.3(ABCA4):c.6685C>T (p.Leu2229=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2707819	NM_000350.3(ABCA4):c.6681C>T (p.Asp2227=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817904	NM_000350.3(ABCA4):c.6675C>T (p.His2225=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 817857	NM_000350.3(ABCA4):c.6670_6671del (p.Ser2224fs)	ABCA4 (S2224fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 225695	NM_000350.3(ABCA4):c.6148-698_6670del	ABCA4	Deletion (splice acceptor variant +1 more)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 1134327	NM_000350.3(ABCA4):c.6669C>A (p.Leu2223=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 739369	NM_000350.3(ABCA4):c.6669C>T (p.Leu2223=)	ABCA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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