C1837174[trait identifier] AND "Mendelics"[submitter] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 464457	NM_199242.3(UNC13D):c.2983G>C (p.Ala995Pro)	UNC13D (A995P)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 801411	NM_199242.3(UNC13D):c.2710-2A>G	LOC112533672, UNC13D	Single nucleotide variant (splice acceptor variant)	Familial hemophagocytic lymphohistiocytosis 3 +1 more	GPathogenic/Likely pathogenic
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 801412	NM_199242.3(UNC13D):c.1596+1G>C	UNC13D	Single nucleotide variant (splice donor variant)	Familial hemophagocytic lymphohistiocytosis 3 +1 more	GPathogenic
Select item 225510	NM_199242.3(UNC13D):c.1228A>C (p.Ile410Leu)	UNC13D (I410L)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 263246	NM_199242.3(UNC13D):c.847A>G (p.Ile283Val)	UNC13D (I283V)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +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 381715	NM_199242.3(UNC13D):c.753+3G>A	UNC13D	Single nucleotide variant (intron variant)	Autoinflammatory syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1454697	NM_199242.3(UNC13D):c.640C>T (p.Arg214Ter)	UNC13D (R214*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis 3 +1 more	GPathogenic
Select item 1299415	NM_199242.3(UNC13D):c.118-307G>A	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GPathogenic/Likely pathogenic