"GeneDx"[submitter] AND "STXBP2"[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 151458	GRCh38/hg38 19p13.2(chr19:7595411-7633304)x3	CAMSAP3, LOC121627854 +8 more	Copy number gain	See cases	GUncertain significance
Select item 387071	NM_001171155.2(PET100):c.-19G>C	PET100, STXBP2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 510984	NM_001171155.2(PET100):c.-3G>A	PET100, STXBP2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 125441	NM_001171155.2(PET100):c.3G>C (p.Met1Ile)	PET100, STXBP2 (M1I)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GPathogenic
Select item 674145	NM_001171155.2(PET100):c.28-193G>C	PET100, STXBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274441	NM_001171155.2(PET100):c.28-123A>G	PET100, STXBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218913	NM_001171155.2(PET100):c.74A>G (p.Asn25Ser)	PET100, STXBP2 (N25S)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 4 deficiency, nuclear type 12 +1 more	GConflicting classifications of pathogenicity
Select item 235437	NM_001171155.2(PET100):c.82G>A (p.Glu28Lys)	PET100, STXBP2 (E28K)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 1225128	NM_001171155.2(PET100):c.114+75T>C	PET100, STXBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200009	NM_001171155.2(PET100):c.115-73T>A	PET100, STXBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679496	NM_001171155.2(PET100):c.115-28G>A	STXBP2, PET100	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219689	NM_001171155.2(PET100):c.138+26A>G	PET100, STXBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270479	NM_001171155.2(PET100):c.138+109A>G	PET100, STXBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683460	NM_001171155.2(PET100):c.138+245C>G	PET100, STXBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683462	NM_001171155.2(PET100):c.139-221G>A	PET100, STXBP2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1211514	NM_001171155.2(PET100):c.139-161G>A	PET100, STXBP2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1181840	NM_001171155.2(PET100):c.139-99G>A	STXBP2, PET100	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212984	NM_001171155.2(PET100):c.139-64_139-63del	PET100, STXBP2	Deletion (intron variant)	not provided	GLikely benign
Select item 385672	NM_001171155.2(PET100):c.139-15C>T	PET100, STXBP2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 517815	NM_001171155.2(PET100):c.139-11_139-9del	PET100, STXBP2	Deletion (intron variant)	Mitochondrial complex 4 deficiency, nuclear type 12 +2 more	GLikely benign
Select item 2663198	NM_001171155.2(PET100):c.178C>T (p.Arg60Trp)	PET100, STXBP2 (R60W)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2574320	NM_001171155.2(PET100):c.184G>T (p.Glu62Ter)	PET100, STXBP2 (E62*)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 1320991	NM_001171155.2(PET100):c.197T>C (p.Leu66Pro)	PET100, STXBP2 (L66P)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 383457	NM_001171155.2(PET100):c.199C>T (p.Arg67Cys)	PET100, STXBP2 (R67C)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 1695740	NM_001171155.2(PET100):c.200G>A (p.Arg67His)	PET100, STXBP2 (R67H)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 4 deficiency, nuclear type 12 +1 more	GUncertain significance
Select item 512138	NM_001171155.2(PET100):c.201C>T (p.Arg67=)	PET100, STXBP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1205108	NM_001171155.2(PET100):c.*54G>T	PET100, STXBP2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1188512	NM_001171155.2(PET100):c.*236C>T	PCP2, PET100 +1 more (R103Q +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GLikely benign
Select item 1283193	NC_000019.10:g.7636780C>A	PCP2, STXBP2	Single nucleotide variant	not provided	GBenign
Select item 1183758	NC_000019.10:g.7636862T>C	PCP2, STXBP2	Single nucleotide variant	not provided	GBenign
Select item 1288717	NM_006949.4(STXBP2):c.37+64G>A	STXBP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 260104	NM_006949.4(STXBP2):c.38-7C>T	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5 +3 more	GBenign
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 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 1310482	NM_006949.4(STXBP2):c.184A>G (p.Asn62Asp)	STXBP2 (N62D)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
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 1062421	NM_006949.4(STXBP2):c.336G>T (p.Glu112Asp)	STXBP2 (E109D +2 more)	Single nucleotide variant (missense variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5 +1 more	GUncertain significance
Select item 1311056	NM_006949.4(STXBP2):c.338C>T (p.Pro113Leu)	STXBP2 (P110L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 538151	NM_006949.4(STXBP2):c.365G>A (p.Arg122His)	STXBP2 (R122H +2 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
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 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 260105	NM_006949.4(STXBP2):c.495C>T (p.Arg165=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +4 more	GBenign/Likely benign
Select item 3343534	NM_006949.4(STXBP2):c.523C>G (p.Gln175Glu)	STXBP2 (Q143E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 659435	NM_006949.4(STXBP2):c.575G>A (p.Arg192His)	STXBP2 (R189H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1303272	NM_006949.4(STXBP2):c.577A>C (p.Lys193Gln)	STXBP2 (K190Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 567849	NM_006949.4(STXBP2):c.661G>A (p.Glu221Lys)	STXBP2 (E221K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1708714	NM_006949.4(STXBP2):c.751G>C (p.Ala251Pro)	STXBP2 (A248P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	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)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1243535	NM_006949.4(STXBP2):c.1107+83G>A	STXBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289324	NM_006949.4(STXBP2):c.1108-326C>T	STXBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281958	NM_006949.4(STXBP2):c.1108-229A>G	STXBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 260087	NM_006949.4(STXBP2):c.1247-43T>C	STXBP2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
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 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 1307151	NM_006949.4(STXBP2):c.1303A>G (p.Ser435Gly)	STXBP2 (S432G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 1264016	NM_006949.4(STXBP2):c.1356+77A>G	STXBP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1288773	NM_006949.4(STXBP2):c.1356+143C>T	STXBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273764	NM_006949.4(STXBP2):c.1356+151G>A	STXBP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282288	NM_006949.4(STXBP2):c.1356+290_1356+296dup	STXBP2	Duplication (intron variant)	not provided	GBenign
Select item 1239710	NM_006949.4(STXBP2):c.1357-281T>C	STXBP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1337688	NM_006949.4(STXBP2):c.1385C>T (p.Pro462Leu)	STXBP2 (P459L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 260089	NM_006949.4(STXBP2):c.1443T>C (p.Asp481=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
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 specified +1 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 +4 more	GConflicting classifications of pathogenicity; association
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 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)	Familial hemophagocytic lymphohistiocytosis 5 +2 more	GBenign
Select item 1287453	NM_006949.4(STXBP2):c.1696+77G>A	STXBP2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 260102	NM_006949.4(STXBP2):c.1697-26T>G	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5 +2 more	GBenign
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 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: 74