C1843504[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 209204	NM_003384.3(VRK1):c.356A>G (p.His119Arg)	VRK1 (H119R)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1A +1 more	GPathogenic/Likely pathogenic
Select item 812546	NM_003384.3(VRK1):c.637T>C (p.Tyr213His)	VRK1 (Y213H)	Single nucleotide variant (missense variant)	EMG: neuropathic changes +2 more	GConflicting classifications of pathogenicity
Select item 971947	NM_003384.3(VRK1):c.721C>T (p.Arg241Cys)	VRK1 (R241C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 425053	NM_003384.3(VRK1):c.769G>A (p.Gly257Ser)	VRK1 (G257S)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1A +1 more	GUncertain significance
Select item 315123	NM_003384.3(VRK1):c.901A>G (p.Lys301Glu)	VRK1 (K301E)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 1A +2 more	GUncertain significance
Select item 193863	NM_003384.3(VRK1):c.1058_1060del (p.Thr353del)	VRK1 (T353del)	Deletion (inframe_deletion)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 7497	NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter)	VRK1 (R358*)	Single nucleotide variant (nonsense)	Pontocerebellar hypoplasia type 1A +3 more	GPathogenic

ClinVar