C3554449[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 265443	NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter)	CTNNB1, LOC126806658 (R95* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +9 more	GPathogenic
Select item 560987	NM_001904.4(CTNNB1):c.495+1G>C	LOC126806658, CTNNB1	Single nucleotide variant (splice donor variant)	Severe intellectual disability-progressive spastic diplegia syndrome	GPathogenic
Select item 560986	NM_001904.4(CTNNB1):c.1163T>C (p.Leu388Pro)	CTNNB1 (L388P +1 more)	Single nucleotide variant (missense variant)	Severe intellectual disability-progressive spastic diplegia syndrome	GUncertain significance
Select item 2441921	NM_001904.4(CTNNB1):c.1183C>T (p.Gln395Ter)	CTNNB1, LOC126806659 (Q388* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 265085	NM_001904.4(CTNNB1):c.1603C>T (p.Arg535Ter)	CTNNB1, LOC126806659 (R535* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 280346	NM_001904.4(CTNNB1):c.1962T>G (p.Tyr654Ter)	CTNNB1 (Y654* +1 more)	Single nucleotide variant (nonsense)	Severe intellectual disability-progressive spastic diplegia syndrome +1 more	GPathogenic
Select item 1029547	NM_001904.4(CTNNB1):c.2099T>C (p.Ile700Thr)	CTNNB1 (I693T +1 more)	Single nucleotide variant (missense variant)	Severe intellectual disability-progressive spastic diplegia syndrome	GUncertain significance

ClinVar