"PreventionGenetics, part of Exact Sciences"[submitter] AND "STXBP2"[g - ClinVar

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

Search results

Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 235437	NM_001171155.2(PET100):c.82G>A (p.Glu28Lys)	PET100, STXBP2 (E28K)	Single nucleotide variant (missense variant +1 more)	PET100-related disorder +1 more	GBenign/Likely benign
Select item 1384124	NM_001171155.2(PET100):c.114+4G>A	PET100, STXBP2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 512138	NM_001171155.2(PET100):c.201C>T (p.Arg67=)	PET100, STXBP2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 260081	NM_006949.4(STXBP2):c.-38del	STXBP2	Deletion (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1036793	NM_006949.4(STXBP2):c.36A>G (p.Glu12=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	STXBP2-related disorder +1 more	GUncertain significance
Select item 260103	NM_006949.4(STXBP2):c.38-30A>C	STXBP2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 260104	NM_006949.4(STXBP2):c.38-7C>T	STXBP2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1570400	NM_006949.4(STXBP2):c.48C>T (p.Ser16=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5 +1 more	GLikely benign
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 260098	NM_006949.4(STXBP2):c.169+12C>T	STXBP2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1170479	NM_006949.4(STXBP2):c.185A>G (p.Asn62Ser)	STXBP2 (N62S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
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 1356735	NM_006949.4(STXBP2):c.482G>A (p.Arg161Gln)	STXBP2 (R161Q +2 more)	Single nucleotide variant (missense variant +1 more)	STXBP2-related disorder +1 more	GUncertain significance
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 3041552	NM_006949.4(STXBP2):c.578+8_578+9insGCC	STXBP2	Insertion (intron variant)	STXBP2-related disorder	GLikely benign
Select item 3040836	NM_006949.4(STXBP2):c.578+7del	STXBP2	Deletion (intron variant)	STXBP2-related disorder	GLikely benign
Select item 3033352	NM_006949.4(STXBP2):c.578+7A>C	STXBP2	Single nucleotide variant (intron variant)	STXBP2-related disorder	GLikely benign
Select item 3041176	NM_006949.4(STXBP2):c.578+8_578+9insG	STXBP2	Insertion (intron variant)	STXBP2-related disorder	GLikely benign
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 260108	NM_006949.4(STXBP2):c.663+10C>T	STXBP2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1562648	NM_006949.4(STXBP2):c.663+11G>A	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5 +1 more	GLikely benign
Select item 1166154	NM_006949.4(STXBP2):c.663+19del	STXBP2	Deletion (intron variant)	STXBP2-related disorder +1 more	GBenign
Select item 726120	NM_006949.4(STXBP2):c.717C>T (p.Pro239=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5 +2 more	GBenign/Likely benign
Select item 193692	NM_006949.4(STXBP2):c.795-4C>T	STXBP2	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 260109	NM_006949.4(STXBP2):c.816C>T (p.Ser272=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5 +1 more	GBenign
Select item 718978	NM_006949.4(STXBP2):c.820G>T (p.Ala274Ser)	STXBP2 (A285S +2 more)	Single nucleotide variant (missense variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5 +1 more	GLikely benign
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 788259	NM_006949.4(STXBP2):c.846C>T (p.Asp282=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5 +1 more	GBenign/Likely benign
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 2631078	NM_006949.4(STXBP2):c.896T>A (p.Val299Glu)	STXBP2 (V267E +3 more)	Single nucleotide variant (missense variant +1 more)	STXBP2-related disorder	GUncertain significance
Select item 330552	NM_006949.4(STXBP2):c.914A>G (p.Glu305Gly)	STXBP2 (E305G +2 more)	Single nucleotide variant (missense variant +1 more)	Familial hemophagocytic lymphohistiocytosis +3 more	GConflicting classifications of pathogenicity
Select item 2776009	NM_006949.4(STXBP2):c.927C>T (p.Thr309=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	STXBP2-related disorder +1 more	GLikely benign
Select item 1650781	NM_006949.4(STXBP2):c.960+9G>A	STXBP2	Single nucleotide variant (intron variant)	STXBP2-related disorder +1 more	GLikely benign
Select item 1539106	NM_006949.4(STXBP2):c.963G>A (p.Ala321=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	STXBP2-related disorder +1 more	GLikely benign
Select item 260082	NM_006949.4(STXBP2):c.1026+35G>A	STXBP2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1637950	NM_006949.4(STXBP2):c.1027-17CACCCTG[3]	STXBP2	Microsatellite (splice acceptor variant)	not specified +2 more	GBenign/Likely benign
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 260083	NM_006949.4(STXBP2):c.1108-46T>C	STXBP2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1095241	NM_006949.4(STXBP2):c.1108-4G>A	STXBP2	Single nucleotide variant (intron variant)	STXBP2-related disorder +1 more	GLikely benign
Select item 1685456	NM_006949.4(STXBP2):c.1115C>A (p.Ala372Asp)	STXBP2 (A369D +2 more)	Single nucleotide variant (missense variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5 +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 260087	NM_006949.4(STXBP2):c.1247-43T>C	STXBP2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 3052220	NM_006949.4(STXBP2):c.1247-30_1247-3dup	STXBP2	Duplication (intron variant)	STXBP2-related disorder	GLikely benign
Select item 260086	NM_006949.4(STXBP2):c.1247-10C>T	STXBP2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
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 2636749	NM_006949.4(STXBP2):c.1301A>G (p.His434Arg)	STXBP2 (H402R +3 more)	Single nucleotide variant (missense variant +1 more)	STXBP2-related disorder	GUncertain significance
Select item 260088	NM_006949.4(STXBP2):c.1356+18A>G	STXBP2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
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 7858	NM_006949.4(STXBP2):c.1430C>T (p.Pro477Leu)	STXBP2 (P477L +2 more)	Single nucleotide variant (missense variant +1 more)	STXBP2-related disorder +1 more	GPathogenic
Select item 798262	NM_006949.4(STXBP2):c.1431G>A (p.Pro477=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5 +1 more	GLikely benign
Select item 260089	NM_006949.4(STXBP2):c.1443T>C (p.Asp481=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 758650	NM_006949.4(STXBP2):c.1452+7G>T	STXBP2	Single nucleotide variant (intron variant)	STXBP2-related disorder +1 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 738049	NM_006949.4(STXBP2):c.1458C>T (p.Ala486=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5 +1 more	GLikely benign
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 260090	NM_006949.4(STXBP2):c.1538+10C>T	STXBP2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 260091	NM_006949.4(STXBP2):c.1538+17G>A	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5 +1 more	GLikely benign
Select item 260092	NM_006949.4(STXBP2):c.1538+28C>T	STXBP2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 260093	NM_006949.4(STXBP2):c.1539-47G>A	STXBP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1552165	NM_006949.4(STXBP2):c.1548C>T (p.Phe516=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5 +1 more	GLikely benign
Select item 260094	NM_006949.4(STXBP2):c.1576A>G (p.Ile526Val)	STXBP2 (I526V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
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 260099	NM_006949.4(STXBP2):c.1696+20A>G	STXBP2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 260100	NM_006949.4(STXBP2):c.1696+28G>C	STXBP2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 260101	NM_006949.4(STXBP2):c.1696+46C>T	STXBP2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 260102	NM_006949.4(STXBP2):c.1697-26T>G	STXBP2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1102683	NM_006949.4(STXBP2):c.1761G>A (p.Leu587=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	STXBP2-related disorder +1 more	GLikely benign
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 73