"3billion"[submitter] AND "LOC126806659"[gene] - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1687403	NM_001904.4(CTNNB1):c.1178dup (p.Thr393_Lys394insTer)	CTNNB1, LOC126806659	Duplication (frameshift variant)	Severe intellectual disability-progressive spastic diplegia syndrome	GLikely pathogenic
Select item 1320200	NM_001904.4(CTNNB1):c.1186-3T>G	CTNNB1, LOC126806659	Single nucleotide variant (intron variant)	Severe intellectual disability-progressive spastic diplegia syndrome	GLikely pathogenic
Select item 1320226	NM_001904.4(CTNNB1):c.1287C>A (p.Cys429Ter)	CTNNB1, LOC126806659 (C422* +1 more)	Single nucleotide variant (nonsense)	Severe intellectual disability-progressive spastic diplegia syndrome	GLikely pathogenic
Select item 2025033	NM_001904.4(CTNNB1):c.1309_1316del (p.Met437fs)	CTNNB1, LOC126806659 (M430fs +1 more)	Deletion (frameshift variant)	Severe intellectual disability-progressive spastic diplegia syndrome +1 more	GPathogenic/Likely pathogenic
Select item 559636	NM_001904.4(CTNNB1):c.1420C>T (p.Arg474Ter)	CTNNB1, LOC126806659 (R474* +1 more)	Single nucleotide variant (nonsense)	Medulloblastoma +11 more	GPathogenic
Select item 1320167	NM_001904.4(CTNNB1):c.1524+2T>A	CTNNB1, LOC126806659	Single nucleotide variant (splice donor variant)	Severe intellectual disability-progressive spastic diplegia syndrome	GLikely pathogenic
Select item 39655	NM_001904.4(CTNNB1):c.1543C>T (p.Arg515Ter)	CTNNB1, LOC126806659 (R515* +1 more)	Single nucleotide variant (nonsense)	not provided +7 more	GPathogenic