"Ambry Genetics"[submitter] AND "LOC126807569"[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 1644835	NM_001037333.3(CYFIP2):c.3490A>G (p.Ile1164Val)	CYFIP2, LOC126807569 +1 more (I1138V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2231882	NM_001037333.3(CYFIP2):c.3568G>A (p.Gly1190Arg)	CYFIP2, LOC126807569 +1 more (G1190R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance