"Fulgent Genetics, Fulgent Genetics"[submitter] AND "ELAC2"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 858177	NM_018127.7(ELAC2):c.2245C>T (p.His749Tyr)	ELAC2 (H748Y +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17 +2 more	GConflicting classifications of pathogenicity
Select item 659632	NM_018127.7(ELAC2):c.1871T>C (p.Leu624Ser)	ELAC2 (L623S +2 more)	Single nucleotide variant (missense variant)	Prostate cancer, hereditary, 2 +1 more	GUncertain significance
Select item 1359788	NM_018127.7(ELAC2):c.1865A>G (p.Glu622Gly)	ELAC2 (E582G +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17 +2 more	GUncertain significance
Select item 5056	NM_018127.7(ELAC2):c.1621G>A (p.Ala541Thr)	ELAC2 (A541T +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 420954	NM_018127.7(ELAC2):c.1305-8delinsCTCTC	ELAC2	Indel (intron variant)	Combined oxidative phosphorylation defect type 17 +2 more	GBenign/Likely benign
Select item 541491	NM_018127.7(ELAC2):c.1186A>G (p.Ile396Val)	ELAC2 (I396V +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17 +2 more	GUncertain significance
Select item 5055	NM_018127.7(ELAC2):c.650C>T (p.Ser217Leu)	ELAC2 (S217L)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 845391	NM_018127.7(ELAC2):c.520G>A (p.Glu174Lys)	ELAC2 (E174K)	Single nucleotide variant (missense variant)	Prostate cancer, hereditary, 2 +2 more	GConflicting classifications of pathogenicity