"Fulgent Genetics, Fulgent Genetics"[submitter] AND "PRKRA"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 518334	NM_003690.5(PRKRA):c.861C>T (p.Ser287=)	CHROMR, PRKRA	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1574809	NM_003690.5(PRKRA):c.784+15del	CHROMR, PRKRA	Deletion (intron variant)	Dystonia 16	GBenign/Likely benign
Select item 6346	NM_003690.5(PRKRA):c.665C>T (p.Pro222Leu)	CHROMR, PRKRA (P222L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1219736	NM_003690.5(PRKRA):c.609+20A>G	PRKRA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 332626	NM_003690.5(PRKRA):c.549T>C (p.Asn183=)	PRKRA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 894077	NM_003690.5(PRKRA):c.-64C>G	PRKRA	Single nucleotide variant (5 prime UTR variant)	Dystonia 16	GUncertain significance
Select item 332639	NM_003690.5(PRKRA):c.-104G>A	PRKRA	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 332642	NM_003690.5(PRKRA):c.-149T>C	PRKRA	Single nucleotide variant	Dystonic disorder +2 more	GUncertain significance

ClinVar