ClinVar for PubMed (Select 3467805) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Links from PubMed

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 14170	NM_000530.8(MPZ):c.499G>C (p.Gly167Arg)	MPZ (G167R)	Single nucleotide variant (missense variant)	Roussy-Lévy syndrome +7 more	GPathogenic
Select item 8434	NM_000304.4(PMP22):c.36C>A (p.His12Gln)	PMP22 (H12Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic