"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 139344	NM_001032221.6(STXBP1):c.247-8A>G	STXBP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy +2 more	GBenign/Likely benign
Select item 94118	NM_001032221.6(STXBP1):c.325+8C>T	STXBP1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 139345	NM_001032221.6(STXBP1):c.326-8A>G	STXBP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 4 +2 more	GBenign/Likely benign
Select item 207418	NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln)	STXBP1 (R190Q +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4 +3 more	GConflicting classifications of pathogenicity
Select item 379855	NM_001032221.6(STXBP1):c.579-2A>G	STXBP1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 207422	NM_001032221.6(STXBP1):c.703C>T (p.Arg235Ter)	STXBP1 (R235* +2 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 518393	NM_001032221.6(STXBP1):c.902+10C>T	STXBP1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy	GLikely benign
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 94117	NM_001032221.6(STXBP1):c.1548C>T (p.Ser516=)	STXBP1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 139356	NM_001032221.6(STXBP1):c.1702+10C>T	STXBP1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity