"Eurofins Ntd Llc (ga)"[submitter] AND "STXBP1"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 448535	NM_001032221.6(STXBP1):c.6C>T (p.Ala2=)	LOC130002651, STXBP1	Single nucleotide variant (synonymous variant +2 more)	not provided +4 more	GBenign/Likely benign
Select item 207412	NM_001032221.6(STXBP1):c.87+1G>A	STXBP1	Single nucleotide variant (splice donor variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic/Likely pathogenic
Select item 139344	NM_001032221.6(STXBP1):c.247-8A>G	STXBP1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GBenign/Likely benign
Select item 94118	NM_001032221.6(STXBP1):c.325+8C>T	STXBP1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts +3 more	GBenign/Likely benign
Select item 198157	NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter)	STXBP1 (R122* +2 more)	Single nucleotide variant (nonsense)	Intellectual disability +10 more	GPathogenic
Select item 289276	NM_001032221.6(STXBP1):c.400_401del (p.Asn134fs)	STXBP1 (N134fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 198490	NM_001032221.6(STXBP1):c.548T>C (p.Leu183Pro)	STXBP1 (L183P +2 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 199083	NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln)	STXBP1 (R235Q +2 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GPathogenic
Select item 497406	NM_001032221.6(STXBP1):c.794+1G>A	STXBP1	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 4 +2 more	GPathogenic
Select item 139349	NM_001032221.6(STXBP1):c.888C>T (p.Ile296=)	STXBP1	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +4 more	GBenign/Likely benign
Select item 167724	NM_001032221.6(STXBP1):c.902+9C>A	STXBP1	Single nucleotide variant (intron variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GBenign
Select item 94116	NM_001032221.6(STXBP1):c.1004C>T (p.Pro335Leu)	STXBP1 (P335L +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 167725	NM_001032221.6(STXBP1):c.1029+1G>T	STXBP1	Single nucleotide variant (splice donor variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 279904	NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His)	STXBP1 (R406H +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 365052	NM_001032221.6(STXBP1):c.1320C>T (p.Ile440=)	STXBP1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 285520	NM_001032221.6(STXBP1):c.1335C>T (p.His445=)	STXBP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 258980	NM_001032221.6(STXBP1):c.1404C>A (p.Ile468=)	STXBP1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 594197	NM_001032221.6(STXBP1):c.1434G>C (p.Trp478Cys)	STXBP1 (W478C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 595655	NM_001032221.6(STXBP1):c.1454T>A (p.Ile485Asn)	STXBP1 (I485N +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 207411	NM_001032221.6(STXBP1):c.1548-7_1548-4del	STXBP1	Deletion (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 94117	NM_001032221.6(STXBP1):c.1548C>T (p.Ser516=)	STXBP1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 139356	NM_001032221.6(STXBP1):c.1702+10C>T	STXBP1	Single nucleotide variant (synonymous variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 194948	NM_003165.6(STXBP1):c.1804A>G (p.Met602Val)	STXBP1 (M602V +2 more)	Single nucleotide variant (missense variant +1 more)	STXBP1-related condition +4 more	GBenign/Likely benign
Select item 497244	NM_003165.6(STXBP1):c.1807G>T (p.Glu603Ter)	STXBP1 (E603* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance

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Items: 24