C1863727[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 952308	NM_001083116.3(PRF1):c.1334G>A (p.Gly445Asp)	PRF1 (G445D)	Single nucleotide variant (missense variant)	Lymphoma, non-Hodgkin, familial +3 more	GUncertain significance
Select item 639509	NM_001083116.3(PRF1):c.1262T>G (p.Phe421Cys)	PRF1 (F421C)	Single nucleotide variant (missense variant)	Aplastic anemia +4 more	GUncertain significance
Select item 1067731	NM_001083116.3(PRF1):c.1228C>T (p.Arg410Trp)	PRF1 (R410W)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis +3 more	GPathogenic/Likely pathogenic
Select item 802581	NM_001083116.3(PRF1):c.1097A>G (p.Gln366Arg)	PRF1 (Q366R)	Single nucleotide variant (missense variant)	Aplastic anemia +2 more	GUncertain significance
Select item 662697	NM_001083116.3(PRF1):c.1070G>A (p.Arg357Gln)	PRF1 (R357Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 1442436	NM_001083116.3(PRF1):c.718C>T (p.Arg240Cys)	PRF1 (R240C)	Single nucleotide variant (missense variant)	Aplastic anemia +2 more	GUncertain significance
Select item 656598	NM_001083116.3(PRF1):c.674G>A (p.Arg225Gln)	PRF1 (R225Q)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2 +3 more	GUncertain significance
Select item 280112	NM_001083116.3(PRF1):c.666C>A (p.His222Gln)	PRF1 (H222Q)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis +4 more	GPathogenic/Likely pathogenic
Select item 834984	NM_001083116.3(PRF1):c.529C>T (p.Arg177Cys)	PRF1 (R177C)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 520942	NM_001083116.3(PRF1):c.445G>A (p.Gly149Ser)	PRF1 (G149S)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 644600	NM_001083116.3(PRF1):c.98G>A (p.Arg33His)	PRF1 (R33H)	Single nucleotide variant (missense variant)	Aplastic anemia +2 more	GUncertain significance
Select item 1038223	NM_001083116.3(PRF1):c.83G>A (p.Arg28His)	PRF1 (R28H)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2 +2 more	GUncertain significance
Select item 468305	NM_001083116.3(PRF1):c.50del (p.Leu17fs)	PRF1 (L17fs)	Deletion (frameshift variant)	Autoinflammatory syndrome +5 more	GPathogenic