Related gene-specific medical variations for Gene (Select 60528) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361859	NM_018127.7(ELAC2):c.1365C>G (p.Asn455Lys)	ELAC2 (N415K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360293	NM_018127.7(ELAC2):c.1484A>G (p.Lys495Arg)	ELAC2 (K455R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2445347	NM_018127.7(ELAC2):c.425C>T (p.Pro142Leu)	ELAC2 (P142L)	Single nucleotide variant (missense variant)	Ovarian cancer	GLikely pathogenic
Select item 2445344	NM_018127.7(ELAC2):c.170C>T (p.Thr57Ile)	ELAC2 (T57I)	Single nucleotide variant (missense variant)	Ovarian cancer	GLikely pathogenic
Select item 2445268	NM_018127.7(ELAC2):c.497G>A (p.Arg166Gln)	ELAC2 (R166Q)	Single nucleotide variant (missense variant)	Ovarian cancer	GBenign
Select item 1319720	NM_018127.7(ELAC2):c.200G>C (p.Ser67Thr)	ELAC2 (S67T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 830070	NM_018127.7(ELAC2):c.1218+3A>C	ELAC2	Single nucleotide variant (intron variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 808235	NM_018127.7(ELAC2):c.1930C>T (p.His644Tyr)	ELAC2 (H604Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 808234	NM_018127.7(ELAC2):c.2108+1G>A	ELAC2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 666453	GRCh37/hg19 17p12(chr17:12895843-12921307)x3	ELAC2	Copy number gain	not provided	GUncertain significance