C2677326[trait identifier] AND "Victorian Clinical Genetics Services, - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 870412	NM_001032221.6(STXBP1):c.37+2dup	LOC130002651, STXBP1	Duplication (splice donor variant +1 more)	Developmental and epileptic encephalopathy, 4	GPathogenic/Likely pathogenic
Select item 488800	NM_001032221.6(STXBP1):c.170-2A>G	STXBP1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 198157	NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter)	STXBP1 (R122* +2 more)	Single nucleotide variant (nonsense)	Early infantile epileptic encephalopathy with suppression bursts +10 more	GPathogenic
Select item 1805469	NM_001032221.6(STXBP1):c.386_393delinsATCTGA (p.Thr129fs)	STXBP1 (T115fs +2 more)	Indel (frameshift variant)	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 1214390	NM_001032221.6(STXBP1):c.392C>T (p.Thr131Met)	STXBP1 (T117M +2 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GBenign/Likely benign
Select item 207415	NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu)	STXBP1 (P139L +2 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +5 more	GPathogenic/Likely pathogenic
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 1699023	NM_001032221.6(STXBP1):c.795-1G>A	STXBP1	Single nucleotide variant (splice acceptor variant +1 more)	Developmental and epileptic encephalopathy, 4 +1 more	GPathogenic
Select item 191238	NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys)	STXBP1 (R292C +2 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +5 more	GPathogenic/Likely pathogenic
Select item 1805441	NM_001032221.6(STXBP1):c.1462-2A>C	STXBP1	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 207440	NM_001032221.6(STXBP1):c.1651C>T (p.Arg551Cys)	STXBP1 (R551C +3 more)	Single nucleotide variant (missense variant)	Developmental disorder +4 more	GPathogenic
Select item 1806156	NM_001032221.6(STXBP1):c.1716C>G (p.Ile572Met)	MIR3911, STXBP1 (I558M +2 more)	Single nucleotide variant (non-coding transcript variant +3 more)	Developmental and epileptic encephalopathy, 4	GLikely benign