"Ambry Genetics"[submitter] AND "STX1B"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 475343	NM_052874.5(STX1B):c.852G>A (p.Gly284=)	STX1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2529653	NM_052874.5(STX1B):c.848G>C (p.Gly283Ala)	STX1B (G283A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 265262	NM_052874.5(STX1B):c.845T>C (p.Ile282Thr)	STX1B (I282T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 586687	NM_052874.5(STX1B):c.840A>G (p.Ser280=)	STX1B	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 9 +3 more	GBenign
Select item 542095	NM_052874.5(STX1B):c.837G>A (p.Ala279=)	STX1B	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 9 +2 more	GBenign/Likely benign
Select item 710233	NM_052874.5(STX1B):c.780C>G (p.Ala260=)	STX1B	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 9 +2 more	GLikely benign
Select item 985016	NM_052874.5(STX1B):c.773G>A (p.Ser258Asn)	STX1B (S258N)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9 +1 more	GUncertain significance
Select item 985094	NM_052874.5(STX1B):c.768T>A (p.Tyr256Ter)	STX1B (Y256*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GLikely pathogenic
Select item 590057	NM_052874.5(STX1B):c.733C>T (p.Arg245Ter)	STX1B (R245*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
Select item 1756420	NM_052874.5(STX1B):c.697G>A (p.Glu233Lys)	STX1B (E233K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 853246	NM_052874.5(STX1B):c.691C>T (p.Arg231Cys)	STX1B (R231C)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9 +1 more	GConflicting classifications of pathogenicity
Select item 475340	NM_052874.5(STX1B):c.609G>A (p.Lys203=)	STX1B	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 475339	NM_052874.5(STX1B):c.538-5C>G	STX1B	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GBenign
Select item 586685	NM_052874.5(STX1B):c.538-7A>G	STX1B	Single nucleotide variant (intron variant)	Generalized epilepsy with febrile seizures plus, type 9 +3 more	GBenign
Select item 542098	NM_052874.5(STX1B):c.513G>C (p.Gly171=)	STX1B	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1744757	NM_052874.5(STX1B):c.500T>C (p.Met167Thr)	STX1B (M167T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538542	NM_052874.5(STX1B):c.472A>C (p.Thr158Pro)	STX1B (T158P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1740951	NM_052874.5(STX1B):c.448C>T (p.Arg150Trp)	STX1B (R150W)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9 +1 more	GUncertain significance
Select item 521607	NM_052874.5(STX1B):c.431G>T (p.Cys144Phe)	STX1B (C144F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2408445	NM_052874.5(STX1B):c.401A>C (p.Asn134Thr)	STX1B (N134T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171754	NM_052874.5(STX1B):c.295A>G (p.Ile99Val)	STX1B (I99V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171753	NM_052874.5(STX1B):c.293G>C (p.Ser98Thr)	STX1B (S98T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1785057	NM_052874.5(STX1B):c.205+5G>C	STX1B	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3323469	NM_052874.5(STX1B):c.205A>C (p.Lys69Gln)	STX1B (K69Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 852366	NM_052874.5(STX1B):c.187G>T (p.Ala63Ser)	STX1B (A63S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 589318	NM_052874.5(STX1B):c.186C>T (p.Ala62=)	STX1B	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1507680	NM_052874.5(STX1B):c.128T>C (p.Ile43Thr)	STX1B (I43T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 589874	NM_052874.5(STX1B):c.106-2A>G	STX1B	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 965289	NM_052874.5(STX1B):c.32C>T (p.Ala11Val)	STX1B (A11V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity

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Items: 29