"Victorian Clinical Genetics Services, Murdoch Childrens Research Inst - 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 1805098	NM_002742.3(PRKD1):c.1874G>T (p.Ser625Ile)	PRKD1 (S537I +2 more)	Single nucleotide variant (missense variant)	Congenital heart defects and ectodermal dysplasia	GUncertain significance
Select item 1805316	NM_002742.3(PRKD1):c.815C>T (p.Thr272Ile)	PRKD1 (T184I +2 more)	Single nucleotide variant (missense variant)	Congenital heart defects and ectodermal dysplasia	GUncertain significance