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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3310210	NM_003690.5(PRKRA):c.860C>G (p.Ser287Cys)	CHROMR, PRKRA (S174C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218879	NM_003690.5(PRKRA):c.634G>C (p.Gly212Arg)	CHROMR, PRKRA (G187R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218878	NM_003690.5(PRKRA):c.200C>T (p.Thr67Ile)	PRKRA (T56I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1046159	NM_003690.5(PRKRA):c.85G>A (p.Ala29Thr)	PRKRA (A29T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2540487	NM_003690.5(PRKRA):c.53G>C (p.Ser18Thr)	PRKRA (S18T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2230879	NM_003690.5(PRKRA):c.38T>C (p.Leu13Pro)	PRKRA (L13P)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance

ClinVar