C1837174[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 582209	NM_199242.3(UNC13D):c.3229_3235del (p.Arg1077fs)	UNC13D (R1077fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 626041	NM_199242.3(UNC13D):c.3134C>T (p.Thr1045Met)	UNC13D (T1045M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 420155	NM_199242.3(UNC13D):c.2346_2349del (p.Arg782fs)	UNC13D (R782fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 3 +2 more	GPathogenic
Select item 950291	NM_199242.3(UNC13D):c.2137G>A (p.Gly713Ser)	UNC13D (G713S)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3 +2 more	GUncertain significance
Select item 1411105	NM_199242.3(UNC13D):c.1807G>T (p.Glu603Ter)	UNC13D (E603*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis 3 +1 more	GPathogenic/Likely pathogenic
Select item 325259	NM_199242.3(UNC13D):c.1772C>T (p.Pro591Leu)	UNC13D (P591L)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 235640	NM_199242.3(UNC13D):c.1579C>T (p.Arg527Trp)	UNC13D (R527W)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1999	NM_199242.3(UNC13D):c.1389+1G>A	UNC13D	Single nucleotide variant (splice donor variant)	Autoinflammatory syndrome +2 more	GPathogenic
Select item 1694202	NM_199242.3(UNC13D):c.1202C>T (p.Ser401Phe)	UNC13D (S401F)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 372959	NM_199242.3(UNC13D):c.919C>T (p.Gln307Ter)	UNC13D (Q307*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 325269	NM_199242.3(UNC13D):c.904C>T (p.Leu302Phe)	UNC13D (L302F)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3 +2 more	GBenign/Likely benign
Select item 263246	NM_199242.3(UNC13D):c.847A>G (p.Ile283Val)	UNC13D (I283V)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1400833	NM_199242.3(UNC13D):c.817C>T (p.Arg273Ter)	UNC13D (R273*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis 3	GPathogenic
Select item 2001	NM_199242.3(UNC13D):c.753+1G>T	UNC13D	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 464459	NM_199242.3(UNC13D):c.670C>T (p.His224Tyr)	UNC13D (H224Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 574872	NM_199242.3(UNC13D):c.610A>G (p.Met204Val)	UNC13D (M204V)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3 +1 more	GConflicting classifications of pathogenicity
Select item 533095	NM_199242.3(UNC13D):c.118-308C>T	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis +2 more	GPathogenic/Likely pathogenic