"PreventionGenetics, part of Exact Sciences"[submitter] AND "ELAC2"[ge - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 408865	NM_018127.7(ELAC2):c.2353_2415dup (p.Arg785_Asp805dup)	ELAC2	Duplication (inframe_insertion)	ELAC2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3061315	NM_018127.7(ELAC2):c.2254-2A>G	ELAC2	Single nucleotide variant (splice acceptor variant)	ELAC2-related disorder	GLikely pathogenic
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 749601	NM_018127.7(ELAC2):c.2199C>T (p.Pro733=)	ELAC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 784736	NM_018127.7(ELAC2):c.1740C>T (p.Ala580=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17 +1 more	GLikely benign
Select item 382473	NM_018127.7(ELAC2):c.1692C>T (p.Arg564=)	ELAC2	Single nucleotide variant (synonymous variant)	ELAC2-related disorder +2 more	GBenign/Likely benign
Select item 2196721	NM_018127.7(ELAC2):c.1659+8T>C	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17 +1 more	GLikely benign
Select item 1631926	NM_018127.7(ELAC2):c.1608G>A (p.Leu536=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17 +1 more	GLikely benign
Select item 1501740	NM_018127.7(ELAC2):c.1554G>A (p.Glu518=)	ELAC2	Single nucleotide variant (synonymous variant)	ELAC2-related disorder +1 more	GLikely benign
Select item 559209	NM_018127.7(ELAC2):c.983+9G>A	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17 +2 more	GLikely benign
Select item 241279	NM_018127.7(ELAC2):c.368-4T>A	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17 +4 more	GBenign/Likely benign
Select item 415250	NM_018127.7(ELAC2):c.240C>T (p.Phe80=)	ELAC2	Single nucleotide variant (synonymous variant)	ELAC2-related disorder +1 more	GLikely benign
Select item 241272	NM_018127.7(ELAC2):c.155C>T (p.Ser52Phe)	ELAC2 (S52F)	Single nucleotide variant (missense variant)	ELAC2-related disorder +3 more	GBenign/Likely benign
Select item 241271	NM_018127.7(ELAC2):c.155C>G (p.Ser52Cys)	ELAC2 (S52C)	Single nucleotide variant (missense variant)	ELAC2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 384867	NM_018127.7(ELAC2):c.95C>G (p.Pro32Arg)	ELAC2 (P32R)	Single nucleotide variant (missense variant)	Ovarian cancer +3 more	GBenign/Likely benign