"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 260106	NM_006949.4(STXBP2):c.49G>A (p.Gly17Arg)	STXBP2 (G17R)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 260096	NM_006949.4(STXBP2):c.165C>T (p.Ile55=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 1425569	NM_006949.4(STXBP2):c.303G>A (p.Ala101=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 538151	NM_006949.4(STXBP2):c.365G>A (p.Arg122His)	STXBP2 (R122H +2 more)	Single nucleotide variant (missense variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5 +4 more	GConflicting classifications of pathogenicity
Select item 729436	NM_006949.4(STXBP2):c.420C>T (p.Tyr140=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5 +1 more	GBenign/Likely benign
Select item 260105	NM_006949.4(STXBP2):c.495C>T (p.Arg165=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 738180	NM_006949.4(STXBP2):c.561G>A (p.Pro187=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5 +1 more	GConflicting classifications of pathogenicity
Select item 260107	NM_006949.4(STXBP2):c.609C>T (p.His203=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 330550	NM_006949.4(STXBP2):c.613G>A (p.Val205Ile)	STXBP2 (V205I +2 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +2 more	GBenign/Likely benign
Select item 1694171	NM_006949.4(STXBP2):c.680_685del (p.Arg227_Ser228del)	STXBP2	Deletion (inframe_deletion +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 1001770	NM_006949.4(STXBP2):c.704G>A (p.Arg235Gln)	STXBP2 (R232Q +2 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 736727	NM_006949.4(STXBP2):c.759G>A (p.Ala253=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 193692	NM_006949.4(STXBP2):c.795-4C>T	STXBP2	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 716692	NM_006949.4(STXBP2):c.822G>A (p.Ala274=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5 +2 more	GConflicting classifications of pathogenicity
Select item 260110	NM_006949.4(STXBP2):c.849G>A (p.Glu283=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5 +3 more	GConflicting classifications of pathogenicity
Select item 1694172	NM_006949.4(STXBP2):c.922A>G (p.Arg308Gly)	STXBP2 (R305G +2 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 729620	NM_006949.4(STXBP2):c.953C>T (p.Thr318Met)	STXBP2 (T318M +2 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 194241	NM_006949.4(STXBP2):c.1034C>T (p.Thr345Met)	STXBP2 (T345M +2 more)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 5 +3 more	GBenign/Likely benign
Select item 729958	NM_006949.4(STXBP2):c.1128C>T (p.Asp376=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5 +1 more	GLikely benign
Select item 330554	NM_006949.4(STXBP2):c.1134G>A (p.Glu378=)	STXBP2	Single nucleotide variant (non-coding transcript variant +1 more)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 260084	NM_006949.4(STXBP2):c.1167C>T (p.Ile389=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5 +2 more	GBenign/Likely benign
Select item 260085	NM_006949.4(STXBP2):c.1191G>A (p.Ala397=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +2 more	GBenign/Likely benign
Select item 330555	NM_006949.4(STXBP2):c.1247-1G>C	STXBP2	Single nucleotide variant (splice acceptor variant)	Familial hemophagocytic lymphohistiocytosis +3 more	GPathogenic
Select item 194525	NM_006949.4(STXBP2):c.1298C>T (p.Ala433Val)	STXBP2 (A433V +2 more)	Single nucleotide variant (missense variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5 +3 more	GBenign/Likely benign
Select item 330556	NM_006949.4(STXBP2):c.1375C>T (p.Arg459Trp)	STXBP2 (R459W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 721040	NM_006949.4(STXBP2):c.1453-10C>T	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5 +2 more	GLikely benign
Select item 330557	NM_006949.4(STXBP2):c.1455C>T (p.Asp485=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 719480	NM_006949.4(STXBP2):c.1459G>A (p.Val487Met)	STXBP2 (V484M +2 more)	Single nucleotide variant (missense variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5 +2 more	GConflicting classifications of pathogenicity
Select item 1694170	NM_006949.4(STXBP2):c.1530C>G (p.Ala510=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
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
Select item 330559	NM_006949.4(STXBP2):c.1586G>C (p.Arg529Pro)	STXBP2 (R529P +2 more)	Single nucleotide variant (missense variant +1 more)	Familial hemophagocytic lymphohistiocytosis +5 more	GConflicting classifications of pathogenicity; association
Select item 260095	NM_006949.4(STXBP2):c.1590G>A (p.Ala530=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 30219	NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser)	STXBP2 (G541S +2 more)	Single nucleotide variant (missense variant +1 more)	STXBP2-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 260097	NM_006949.4(STXBP2):c.1663A>G (p.Arg555Gly)	STXBP2 (R555G +2 more)	Single nucleotide variant (missense variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5 +3 more	GBenign/Likely benign
Select item 1390378	NM_006949.4(STXBP2):c.1759C>G (p.Leu587Val)	STXBP2 (L587V +2 more)	Single nucleotide variant (missense variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5 +2 more	GUncertain significance
Select item 260080	NM_006949.4(STXBP2):c.*12G>A	STXBP2	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +3 more	GBenign/Likely benign

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Items: 36