"GeneDx"[submitter] AND "ELOVL4"[gene] - ClinVar

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Search results

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 358142	NM_022726.4(ELOVL4):c.*142G>C	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3 +1 more	GBenign
Select item 358145	NM_022726.4(ELOVL4):c.*8T>C	ELOVL4	Single nucleotide variant (3 prime UTR variant)	Stargardt disease 3 +1 more	GBenign
Select item 281603	NM_022726.4(ELOVL4):c.931G>A (p.Ala311Thr)	ELOVL4 (A311T)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 137206	NM_022726.4(ELOVL4):c.895A>G (p.Met299Val)	ELOVL4 (M299V)	Single nucleotide variant (missense variant)	Stargardt disease 3 +4 more	GBenign
Select item 137205	NM_022726.4(ELOVL4):c.814G>C (p.Glu272Gln)	ELOVL4 (E272Q)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 137204	NM_022726.4(ELOVL4):c.800T>C (p.Ile267Thr)	ELOVL4 (I267T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 430572	NM_022726.4(ELOVL4):c.736T>G (p.Trp246Gly)	ELOVL4 (W246G)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 547008	NM_022726.4(ELOVL4):c.698C>T (p.Thr233Met)	ELOVL4 (T233M)	Single nucleotide variant (missense variant)	ELOVL4-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 561003	NM_022726.4(ELOVL4):c.670-1G>A	ELOVL4	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1223929	NM_022726.4(ELOVL4):c.670-17T>A	ELOVL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678617	NM_022726.4(ELOVL4):c.670-249del	ELOVL4	Deletion (intron variant)	not provided	GBenign
Select item 1277709	NM_022726.4(ELOVL4):c.669+309_669+310insGATTTAT	ELOVL4	Insertion (intron variant)	not provided	GBenign
Select item 680042	NM_022726.4(ELOVL4):c.669+155T>A	ELOVL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191203	NM_022726.4(ELOVL4):c.669+58A>T	ELOVL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187483	NM_022726.4(ELOVL4):c.669+50del	ELOVL4	Deletion (intron variant)	not provided	GLikely benign
Select item 452923	NM_022726.4(ELOVL4):c.669+1G>A	ELOVL4	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 30494	NM_022726.4(ELOVL4):c.646C>T (p.Arg216Ter)	ELOVL4 (R216*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 676390	NM_022726.4(ELOVL4):c.541+60G>A	ELOVL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1303243	NM_022726.4(ELOVL4):c.539A>C (p.Gln180Pro)	ELOVL4 (Q180P)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 435057	NM_022726.4(ELOVL4):c.512T>C (p.Ile171Thr)	ELOVL4 (I171T)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 34 +1 more	GPathogenic/Likely pathogenic
Select item 391976	NM_022726.4(ELOVL4):c.506G>A (p.Trp169Ter)	ELOVL4 (W169*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3368768	NM_022726.4(ELOVL4):c.494T>C (p.Met165Thr)	ELOVL4 (M165T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305338	NM_022726.4(ELOVL4):c.473A>G (p.His158Arg)	ELOVL4 (H158R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1267535	NM_022726.4(ELOVL4):c.370-26=	ELOVL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297195	NM_022726.4(ELOVL4):c.370-117C>A	ELOVL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297198	NM_022726.4(ELOVL4):c.370-118C>G	ELOVL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675836	NM_022726.4(ELOVL4):c.370-166del	ELOVL4	Deletion (intron variant)	not provided	GBenign
Select item 1293065	NM_022726.4(ELOVL4):c.369+200A>G	ELOVL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680050	NM_022726.4(ELOVL4):c.369+147T>C	ELOVL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675835	NM_022726.4(ELOVL4):c.369+56C>T	ELOVL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1017405	NM_022726.4(ELOVL4):c.313G>A (p.Gly105Arg)	ELOVL4 (G105R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 911550	NM_022726.4(ELOVL4):c.311C>T (p.Ala104Val)	ELOVL4 (A104V)	Single nucleotide variant (missense variant)	Stargardt disease 3 +2 more	GConflicting classifications of pathogenicity
Select item 1265926	NM_022726.4(ELOVL4):c.289-99T>C	ELOVL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182715	NM_022726.4(ELOVL4):c.288+277G>A	ELOVL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680041	NM_022726.4(ELOVL4):c.288+189G>A	ELOVL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2663146	NM_022726.4(ELOVL4):c.232G>A (p.Val78Met)	ELOVL4 (V78M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309497	NM_022726.4(ELOVL4):c.229C>G (p.Leu77Val)	ELOVL4 (L77V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1212717	NM_022726.4(ELOVL4):c.134C>G (p.Ser45Cys)	ELOVL4 (S45C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1186226	NM_022726.4(ELOVL4):c.106C>T (p.Arg36Cys)	ELOVL4 (R36C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 788860	NM_022726.4(ELOVL4):c.101-4A>G	ELOVL4	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 674088	NM_022726.4(ELOVL4):c.101-268G>A	ELOVL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221304	NM_022726.4(ELOVL4):c.101-303T>A	ELOVL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190191	NM_022726.4(ELOVL4):c.100+152G>A	ELOVL4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205363	NM_022726.4(ELOVL4):c.35_48dup (p.Thr17Ter)	ELOVL4 (T17*)	Duplication (nonsense)	not provided	GLikely pathogenic
Select item 358150	NM_022726.4(ELOVL4):c.-90G>C	ELOVL4	Single nucleotide variant (5 prime UTR variant)	Stargardt disease 3 +1 more	GBenign
Select item 358156	NM_022726.4(ELOVL4):c.-236C>T	ELOVL4	Single nucleotide variant (5 prime UTR variant)	Stargardt disease 3 +1 more	GBenign
Select item 1200560	NM_022726.4(ELOVL4):c.-272_-260dup	ELOVL4	Duplication (5 prime UTR variant)	not provided	GLikely benign
Select item 1706234	NC_000006.12:g.79947706G>C	ELOVL4	Single nucleotide variant	not provided	GLikely benign
Select item 1204878	NC_000006.12:g.79947729C>T	ELOVL4	Single nucleotide variant	not provided	GLikely benign

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Items: 49