C1868675[trait identifier] AND "Molecular Genetics, Royal Melbourne Ho - 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 7050	NM_004562.3(PRKN):c.823C>T (p.Arg275Trp)	PRKN (R275W +2 more)	Single nucleotide variant (missense variant)	See cases +7 more	GPathogenic
Select item 7038	NM_004562.3(PRKN):c.245C>A (p.Ala82Glu)	PRKN (A82E)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity