"Invitae"[submitter] AND "HELQ"[gene] - ClinVar

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

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 780111	NM_133636.5(HELQ):c.106C>T (p.Pro36Ser)	HELQ, LOC112997542 (P36S)	Single nucleotide variant (missense variant +2 more)	HELQ-related condition +1 more	GBenign
Select item 782246	NM_133636.5(HELQ):c.53A>G (p.Asn18Ser)	HELQ, LOC112997542 (N18S)	Single nucleotide variant (missense variant +2 more)	HELQ-related condition +1 more	GBenign/Likely benign
Select item 2426212	NC_000004.11:g.(?_84185352)_(84406225_?)del	ABRAXAS1, COQ2 +3 more	Deletion	not provided	GPathogenic

Format

Sort by

Choose Destination