C1866174[trait identifier] AND "Counsyl"[submitter] - 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 3870	NM_006623.4(PHGDH):c.403C>T (p.Arg135Trp)	PHGDH (R135W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 139535	NM_006623.4(PHGDH):c.488G>A (p.Arg163Gln)	PHGDH (R163Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity