C5193113[trait identifier] AND "SIB Swiss Institute of Bioinformatics" - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 692140	NM_016188.5(ACTL6B):c.1275C>A (p.Cys425Ter)	ACTL6B (C425*)	Single nucleotide variant (nonsense +1 more)	ACTL6B-related BAFopathy +1 more	GConflicting classifications of pathogenicity
Select item 635101	NM_016188.5(ACTL6B):c.1045G>A (p.Gly349Ser)	ACTL6B (G349S)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 76	GLikely pathogenic
Select item 692141	NM_016188.5(ACTL6B):c.852C>G (p.Tyr284Ter)	ACTL6B (Y284*)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy, 76	GLikely pathogenic
Select item 635100	NM_016188.5(ACTL6B):c.820C>T (p.Gln274Ter)	ACTL6B (Q274*)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy, 76	GLikely pathogenic
Select item 692142	NM_016188.5(ACTL6B):c.740G>A (p.Trp247Ter)	ACTL6B (W247*)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy, 76 +1 more	GLikely pathogenic
Select item 635104	NM_016188.5(ACTL6B):c.724C>T (p.Gln242Ter)	ACTL6B (Q242*)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy, 76	GLikely pathogenic
Select item 635105	NM_016188.5(ACTL6B):c.617T>C (p.Leu206Pro)	ACTL6B (L206P)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 76	GLikely pathogenic
Select item 692138	NM_016188.5(ACTL6B):c.556C>T (p.Gln186Ter)	ACTL6B (Q186*)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy, 76	GLikely pathogenic
Select item 635103	NM_016188.5(ACTL6B):c.435CTT[2] (p.Phe147del)	ACTL6B (F147del)	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 692139	NM_016188.5(ACTL6B):c.389G>A (p.Arg130Gln)	ACTL6B (R130Q)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 76	GUncertain significance
Select item 692137	NM_016188.5(ACTL6B):c.289C>T (p.Arg97Ter)	ACTL6B (R97*)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy, 76 +1 more	GLikely pathogenic