"Baylor Genetics"[submitter] AND "STXBP2"[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2679075	NM_006949.4(STXBP2):c.37+5G>A	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely pathogenic
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 2679084	NM_006949.4(STXBP2):c.80del (p.Glu27fs)	STXBP2 (E27fs)	Deletion (frameshift variant +2 more)	Familial hemophagocytic lymphohistiocytosis 5	GPathogenic/Likely pathogenic
Select item 2679083	NM_006949.4(STXBP2):c.87+2T>C	STXBP2	Single nucleotide variant (splice donor variant)	Familial hemophagocytic lymphohistiocytosis 5	GPathogenic/Likely pathogenic
Select item 2679091	NM_006949.4(STXBP2):c.143C>G (p.Ser48Ter)	STXBP2 (S16* +1 more)	Single nucleotide variant (nonsense +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely pathogenic
Select item 451232	NM_006949.4(STXBP2):c.169+2T>G	STXBP2	Single nucleotide variant (splice donor variant)	Familial hemophagocytic lymphohistiocytosis 5 +1 more	GPathogenic/Likely pathogenic
Select item 640802	NM_006949.4(STXBP2):c.194G>A (p.Arg65Gln)	STXBP2 (R65Q)	Single nucleotide variant (missense variant +1 more)	Familial hemophagocytic lymphohistiocytosis +2 more	GPathogenic/Likely pathogenic
Select item 3240552	NM_006949.4(STXBP2):c.229_239delinsG (p.Leu77fs)	STXBP2 (L45fs +1 more)	Indel (frameshift variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely pathogenic
Select item 2679086	NM_006949.4(STXBP2):c.255_265del (p.Ala86fs)	STXBP2 (A54fs +2 more)	Deletion (frameshift variant +2 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely pathogenic
Select item 3240554	NM_006949.4(STXBP2):c.253C>T (p.Gln85Ter)	STXBP2 (Q53* +2 more)	Single nucleotide variant (nonsense +2 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely pathogenic
Select item 2679071	NM_006949.4(STXBP2):c.290dup (p.Thr98fs)	STXBP2 (T109fs +3 more)	Duplication (frameshift variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely pathogenic
Select item 579782	NM_006949.4(STXBP2):c.389T>C (p.Leu130Ser)	STXBP2 (L130S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2679081	NM_006949.4(STXBP2):c.429+1G>A	STXBP2	Single nucleotide variant (splice donor variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely pathogenic
Select item 2679076	NM_006949.4(STXBP2):c.430-1G>A	STXBP2	Single nucleotide variant (splice acceptor variant)	Familial hemophagocytic lymphohistiocytosis 5	GPathogenic
Select item 662726	NM_006949.4(STXBP2):c.474_483delinsGA (p.Cys158fs)	STXBP2 (C158fs +2 more)	Indel (frameshift variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 968511	NM_006949.4(STXBP2):c.533C>T (p.Thr178Met)	STXBP2 (T189M +2 more)	Single nucleotide variant (missense variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5 +1 more	GUncertain significance
Select item 3240553	NM_006949.4(STXBP2):c.578+2T>C	STXBP2	Single nucleotide variant (splice donor variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely pathogenic
Select item 1029119	NM_006949.4(STXBP2):c.607del (p.His203fs)	STXBP2 (H200fs +2 more)	Deletion (frameshift variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GPathogenic
Select item 2679085	NM_006949.4(STXBP2):c.652dup (p.Ser218fs)	STXBP2 (S186fs +3 more)	Duplication (frameshift variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely pathogenic
Select item 7859	NM_006949.4(STXBP2):c.693_695del (p.Ile232del)	STXBP2 (I232del +2 more)	Deletion (inframe_deletion +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GPathogenic
Select item 1387655	NM_006949.4(STXBP2):c.703C>G (p.Arg235Gly)	STXBP2 (R246G +2 more)	Single nucleotide variant (missense variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GConflicting classifications of pathogenicity
Select item 1184438	NM_006949.4(STXBP2):c.902+5G>A	STXBP2	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 852094	NM_006949.4(STXBP2):c.1001C>T (p.Pro334Leu)	STXBP2 (P331L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2679082	NM_006949.4(STXBP2):c.1044_1051del (p.His348fs)	STXBP2 (H316fs +3 more)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely pathogenic
Select item 1029120	NM_006949.4(STXBP2):c.1071C>T (p.Phe357=)	STXBP2	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 5	GUncertain significance
Select item 2679087	NM_006949.4(STXBP2):c.1107+2T>G	STXBP2	Single nucleotide variant (splice donor variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely pathogenic
Select item 2679077	NM_006949.4(STXBP2):c.1138G>T (p.Glu380Ter)	STXBP2 (E348* +3 more)	Single nucleotide variant (nonsense +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GPathogenic/Likely pathogenic
Select item 2679073	NM_006949.4(STXBP2):c.1179del (p.Leu394fs)	STXBP2 (L362fs +3 more)	Deletion (frameshift variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely pathogenic
Select item 2679079	NM_006949.4(STXBP2):c.1210dup (p.Ile404fs)	STXBP2 (I372fs +3 more)	Duplication (frameshift variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely pathogenic
Select item 1454871	NM_006949.4(STXBP2):c.1213C>T (p.Arg405Trp)	STXBP2 (R416W +2 more)	Single nucleotide variant (missense variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GPathogenic
Select item 538148	NM_006949.4(STXBP2):c.1214G>A (p.Arg405Gln)	STXBP2 (R405Q +2 more)	Single nucleotide variant (missense variant +1 more)	Familial hemophagocytic lymphohistiocytosis +1 more	GPathogenic/Likely pathogenic
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 2899306	NM_006949.4(STXBP2):c.1356+1G>T	STXBP2	Single nucleotide variant (splice donor variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely pathogenic
Select item 2679088	NM_006949.4(STXBP2):c.1356+1G>C	STXBP2	Single nucleotide variant (splice donor variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely pathogenic
Select item 2679074	NM_006949.4(STXBP2):c.1411C>T (p.Gln471Ter)	STXBP2 (Q439* +3 more)	Single nucleotide variant (nonsense +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely pathogenic
Select item 7858	NM_006949.4(STXBP2):c.1430C>T (p.Pro477Leu)	STXBP2 (P477L +2 more)	Single nucleotide variant (missense variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GPathogenic
Select item 2138203	NM_006949.4(STXBP2):c.1452+1G>A	STXBP2	Single nucleotide variant (splice donor variant)	Familial hemophagocytic lymphohistiocytosis 5	GPathogenic/Likely pathogenic
Select item 1454120	NM_006949.4(STXBP2):c.1525C>T (p.Gln509Ter)	STXBP2 (Q509* +2 more)	Single nucleotide variant (nonsense +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GPathogenic/Likely pathogenic
Select item 2679089	NM_006949.4(STXBP2):c.1538+1G>C	STXBP2	Single nucleotide variant (splice donor variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely pathogenic
Select item 3240551	NM_006949.4(STXBP2):c.1538+2T>C	STXBP2	Single nucleotide variant (splice donor variant)	Familial hemophagocytic lymphohistiocytosis 5	GLikely pathogenic
Select item 657586	NM_006949.4(STXBP2):c.1586G>A (p.Arg529Gln)	STXBP2 (R529Q +2 more)	Single nucleotide variant (missense variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5 +2 more	GConflicting classifications of pathogenicity
Select item 2679078	NM_006949.4(STXBP2):c.1610_1611dup (p.Val538fs)	STXBP2 (V506fs +3 more)	Duplication (frameshift variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely pathogenic
Select item 2679092	NM_006949.4(STXBP2):c.1611T>G (p.Tyr537Ter)	STXBP2 (Y505* +3 more)	Single nucleotide variant (nonsense +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GLikely pathogenic
Select item 30219	NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser)	STXBP2 (G541S +2 more)	Single nucleotide variant (missense variant +1 more)	Familial hemophagocytic lymphohistiocytosis +3 more	GPathogenic/Likely pathogenic
Select item 1800888	NM_006949.4(STXBP2):c.1697G>A (p.Gly566Asp)	STXBP2 (G563D +2 more)	Single nucleotide variant (missense variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5 +1 more	GLikely pathogenic
Select item 2582623	NM_006949.4(STXBP2):c.1722_1723insTCAC (p.Arg575fs)	STXBP2 (R543fs +3 more)	Insertion (frameshift variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5	GUncertain significance

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Items: 46