"Ambry Genetics"[submitter] AND "PRNP"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3310263	NM_000311.5(PRNP):c.40G>T (p.Ala14Ser)	PRNP (A14S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2207104	NM_000311.5(PRNP):c.110G>A (p.Arg37Gln)	PRNP (R37Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2318704	NM_000311.5(PRNP):c.214G>C (p.Gly72Arg)	PRNP (G72R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338908	NM_000311.5(PRNP):c.286C>G (p.His96Asp)	PRNP (H96D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 13404	NM_000311.5(PRNP):c.314C>T (p.Pro105Leu)	PRNP (P105L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 13396	NM_000311.5(PRNP):c.350C>T (p.Ala117Val)	PRNP (A117V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 1570377	NM_000311.5(PRNP):c.531C>T (p.His177=)	PRNP	Single nucleotide variant (synonymous variant +1 more)	Huntington disease-like 1 +1 more	GLikely benign
Select item 13403	NM_000311.5(PRNP):c.628G>A (p.Val210Ile)	PRNP (V210I)	Single nucleotide variant (missense variant +1 more)	Fatal familial insomnia +6 more	GPathogenic/Likely pathogenic/Pathogenic, low penetrance

ClinVar