"GeneDx"[submitter] AND "LOC130004294"[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 59703	GRCh38/hg38 10q23.1-23.31(chr10:84434981-89150802)x3	ATAD1, ACTA2 +151 more	Copy number gain	See cases	GPathogenic
Select item 1284170	NM_001141945.3(ACTA2):c.-237G>A	ACTA2, FAS +1 more	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GBenign
Select item 1229597	NM_001141945.3(ACTA2):c.-310A>C	ACTA2, FAS +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign

Format

Sort by

Choose Destination