"GeneDx"[submitter] AND "PCDHA1"[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 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 384336	NM_018901.4(PCDHA10):c.897A>T (p.Gly299=)	PCDHA1, PCDHA10 +9 more	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1286304	NM_018900.4(PCDHA1):c.2394+69786T>C	PCDHA1, PCDHA10 +9 more (F808L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign

Format

Sort by

Choose Destination