"Eurofins Ntd Llc (ga)"[submitter] AND "STXBP2"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 597717	NM_006949.4(STXBP2):c.37+7G>T	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5 +1 more	GConflicting classifications of pathogenicity
Select item 260106	NM_006949.4(STXBP2):c.49G>A (p.Gly17Arg)	STXBP2 (G17R)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 286335	NM_006949.4(STXBP2):c.358C>T (p.Arg120Cys)	STXBP2 (R120C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 417965	NM_006949.4(STXBP2):c.568C>T (p.Arg190Cys)	STXBP2 (R190C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 593060	NM_006949.4(STXBP2):c.743C>T (p.Thr248Met)	STXBP2 (T248M +2 more)	Single nucleotide variant (missense variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5 +1 more	GUncertain significance
Select item 193692	NM_006949.4(STXBP2):c.795-4C>T	STXBP2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 194241	NM_006949.4(STXBP2):c.1034C>T (p.Thr345Met)	STXBP2 (T345M +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 286079	NM_006949.4(STXBP2):c.1188G>A (p.Ala396=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 593463	NM_006949.4(STXBP2):c.1197C>T (p.Pro399=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5 +1 more	GConflicting classifications of pathogenicity
Select item 538144	NM_006949.4(STXBP2):c.1286C>T (p.Ala429Val)	STXBP2 (A429V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 194525	NM_006949.4(STXBP2):c.1298C>T (p.Ala433Val)	STXBP2 (A433V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 595195	NM_006949.4(STXBP2):c.1354G>A (p.Gly452Arg)	STXBP2 (G452R +2 more)	Single nucleotide variant (missense variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5 +2 more	GUncertain significance
Select item 260088	NM_006949.4(STXBP2):c.1356+18A>G	STXBP2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 285969	NM_006949.4(STXBP2):c.1394G>A (p.Arg465His)	STXBP2 (R465H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 260090	NM_006949.4(STXBP2):c.1538+10C>T	STXBP2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 287855	NM_006949.4(STXBP2):c.1569G>A (p.Lys523=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity