"Diagnostic Laboratory, Department of Genetics, University Medical Cen - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 263240	NM_199242.3(UNC13D):c.3198A>G (p.Glu1066=)	UNC13D	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 464457	NM_199242.3(UNC13D):c.2983G>C (p.Ala995Pro)	UNC13D (A995P)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 263228	NM_199242.3(UNC13D):c.2599A>G (p.Lys867Glu)	UNC13D (K867E)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3 +2 more	GBenign/Likely benign
Select item 464455	NM_199242.3(UNC13D):c.2542A>C (p.Ile848Leu)	UNC13D (I848L)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 944890	NM_199242.3(UNC13D):c.2477_2480del (p.Leu826fs)	UNC13D (L826fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 3	GPathogenic
Select item 325252	NM_199242.3(UNC13D):c.2341G>A (p.Val781Ile)	UNC13D (V781I)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3 +3 more	GConflicting classifications of pathogenicity
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 263247	NM_199242.3(UNC13D):c.888G>C (p.Pro296=)	UNC13D	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 263235	NM_199242.3(UNC13D):c.279C>T (p.Pro93=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3 +2 more	GBenign
Select item 263214	NM_199242.3(UNC13D):c.154-19G>A	UNC13D	Single nucleotide variant (intron variant)	not specified +2 more	GBenign