"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "ELOVL1" - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2185345	NM_022821.4(ELOVL1):c.787C>T (p.Arg263Cys)	ELOVL1 (R236C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2997588	NM_022821.4(ELOVL1):c.768C>T (p.Thr256=)	ELOVL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2125482	NM_022821.4(ELOVL1):c.724A>G (p.Ile242Val)	ELOVL1 (I161V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2081656	NM_022821.4(ELOVL1):c.669C>G (p.Ser223=)	ELOVL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2081405	NM_022821.4(ELOVL1):c.648C>A (p.Ile216=)	ELOVL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2781304	NM_022821.4(ELOVL1):c.585T>G (p.Leu195=)	ELOVL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2795132	NM_022821.4(ELOVL1):c.520G>A (p.Val174Met)	ELOVL1 (V93M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2093641	NM_022821.4(ELOVL1):c.498C>G (p.Phe166Leu)	ELOVL1 (F166L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 652597	NM_022821.4(ELOVL1):c.494C>T (p.Ser165Phe)	ELOVL1 (S165F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2185306	NM_022821.4(ELOVL1):c.492C>T (p.Gly164=)	ELOVL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1899560	NM_022821.4(ELOVL1):c.482-20_482-17del	ELOVL1	Deletion (intron variant)	not provided	GLikely benign
Select item 2860651	NM_022821.4(ELOVL1):c.474T>G (p.Ile158Met)	ELOVL1 (I131M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966746	NM_022821.4(ELOVL1):c.399A>G (p.Lys133=)	ELOVL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1621476	NM_022821.4(ELOVL1):c.375+17G>A	ELOVL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1533916	NM_022821.4(ELOVL1):c.351C>G (p.Ser117=)	ELOVL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2074311	NM_022821.4(ELOVL1):c.342C>T (p.Phe114=)	ELOVL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2027691	NM_022821.4(ELOVL1):c.335G>C (p.Trp112Ser)	ELOVL1 (W31S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2047477	NM_022821.4(ELOVL1):c.326G>A (p.Arg109Gln)	ELOVL1 (R109Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1967617	NM_022821.4(ELOVL1):c.325C>T (p.Arg109Trp)	ELOVL1 (R82W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2062099	NM_022821.4(ELOVL1):c.302G>A (p.Ser101Asn)	ELOVL1 (S20N +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1926439	NM_022821.4(ELOVL1):c.238-6T>A	ELOVL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2150658	NM_022821.4(ELOVL1):c.166T>C (p.Phe56Leu)	ELOVL1 (F56L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2095158	NM_022821.4(ELOVL1):c.143G>A (p.Arg48His)	ELOVL1 (R48H)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 2428405	NM_022821.4(ELOVL1):c.142C>T (p.Arg48Cys)	ELOVL1 (R48C)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1664497	NM_022821.4(ELOVL1):c.105C>T (p.Leu35=)	ELOVL1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign/Likely benign
Select item 2713711	NM_022821.4(ELOVL1):c.95C>A (p.Thr32Asn)	ELOVL1 (T32N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2745686	NM_022821.4(ELOVL1):c.85T>G (p.Leu29Val)	ELOVL1 (L29V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2129676	NM_022821.4(ELOVL1):c.72G>C (p.Leu24=)	ELOVL1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1922522	NM_022821.4(ELOVL1):c.46+19G>T	ELOVL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2418427	NM_022821.4(ELOVL1):c.46+8G>A	ELOVL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2052579	NM_022821.4(ELOVL1):c.46+7C>T	ELOVL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2121189	NM_022821.4(ELOVL1):c.46+5G>A	ELOVL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2168365	NM_022821.4(ELOVL1):c.42C>T (p.His14=)	ELOVL1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2040703	NM_022821.4(ELOVL1):c.13G>A (p.Val5Met)	ELOVL1 (V5M)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 3247992	NC_000001.10:g.(?_42922237)_(43916151_?)del	C1orf210, C1orf50 +20 more	Deletion	not provided	GPathogenic
Select item 1070387	NC_000001.10:g.(?_43392692)_(43870241_?)del	CDC20, CFAP144 +10 more	Deletion	not provided	GPathogenic
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	FOXJ3, SNIP1 +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance

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Items: 37