"PreventionGenetics, part of Exact Sciences"[submitter] AND "STX1B"[ge - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2529653	NM_052874.5(STX1B):c.848G>C (p.Gly283Ala)	STX1B (G283A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 265262	NM_052874.5(STX1B):c.845T>C (p.Ile282Thr)	STX1B (I282T)	Single nucleotide variant (missense variant)	Generalized epilepsy with febrile seizures plus, type 9 +3 more	GConflicting classifications of pathogenicity
Select item 542095	NM_052874.5(STX1B):c.837G>A (p.Ala279=)	STX1B	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 586686	NM_052874.5(STX1B):c.786+7G>A	STX1B	Single nucleotide variant (intron 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)	STX1B-related disorder +3 more	GLikely benign
Select item 475340	NM_052874.5(STX1B):c.609G>A (p.Lys203=)	STX1B	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 744541	NM_052874.5(STX1B):c.312G>T (p.Gly104=)	STX1B	Single nucleotide variant (synonymous variant)	Generalized epilepsy with febrile seizures plus, type 9 +1 more	GLikely benign
Select item 2989188	NM_052874.5(STX1B):c.-15_-4dup	STX1B	Duplication (inframe_insertion +1 more)	Generalized epilepsy with febrile seizures plus, type 9 +1 more	GUncertain significance