"Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan"[submitte - ClinVar - NCBI

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Items: 18

	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)	Familial hemophagocytic lymphohistiocytosis 3 +2 more	GBenign
Select item 263236	NM_199242.3(UNC13D):c.2830+37C>G	LOC112533672, UNC13D	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 263228	NM_199242.3(UNC13D):c.2599A>G (p.Lys867Glu)	UNC13D (K867E)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 263226	NM_199242.3(UNC13D):c.2448-8dup	UNC13D	Duplication (intron variant)	Familial hemophagocytic lymphohistiocytosis 3 +2 more	GBenign
Select item 2628254	NM_199242.3(UNC13D):c.2447+144C>T	UNC13D	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 263222	NM_199242.3(UNC13D):c.1992+5G>A	UNC13D	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 263217	NM_199242.3(UNC13D):c.1728-48T>C	UNC13D	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 263215	NM_199242.3(UNC13D):c.1596+36A>G	UNC13D	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 263212	NM_199242.3(UNC13D):c.1389+36G>A	UNC13D	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1229531	NM_199242.3(UNC13D):c.1056-89_1056-88insGGTTCTCCACCAGGGGCCCTGGAGGA	UNC13D	Microsatellite (intron variant)	not provided +1 more	GBenign
Select item 263247	NM_199242.3(UNC13D):c.888G>C (p.Pro296=)	UNC13D	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1249408	NM_199242.3(UNC13D):c.570-60T>G	UNC13D	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1247608	NM_199242.3(UNC13D):c.388+122C>T	UNC13D	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2688455	NM_199242.3(UNC13D):c.388+81G>A	UNC13D	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 263229	NM_199242.3(UNC13D):c.261+26C>G	UNC13D	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 263214	NM_199242.3(UNC13D):c.154-19G>A	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3 +2 more	GBenign
Select item 2628214	NM_199242.3(UNC13D):c.153+67C>T	UNC13D	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1166947	NM_199242.3(UNC13D):c.117+59C>T	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3 +3 more	GBenign