C4693578[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2440596	NM_001012614.2(CTBP1):c.1246G>A (p.Val416Ile)	CTBP1, CTBP1-AS (V416I +3 more)	Single nucleotide variant (missense variant +1 more)	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome +1 more	GUncertain significance
Select item 2440594	NM_001012614.2(CTBP1):c.1075G>A (p.Val359Met)	CTBP1-AS, CTBP1 (V359M +1 more)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome	GUncertain significance
Select item 225758	NM_001012614.2(CTBP1):c.991C>T (p.Arg331Trp)	CTBP1, CTBP1-AS (R331W +1 more)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome +2 more	GPathogenic
Select item 2176965	NM_001012614.2(CTBP1):c.679G>A (p.Gly227Ser)	CTBP1, CTBP1-AS (G238S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2440598	NM_001012614.2(CTBP1):c.564C>T (p.Asn188=)	CTBP1-AS, CTBP1	Single nucleotide variant (synonymous variant +1 more)	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome	GUncertain significance
Select item 2440599	NM_001012614.2(CTBP1):c.517C>T (p.Arg173Cys)	CTBP1, CTBP1-AS (R173C +1 more)	Single nucleotide variant (missense variant +1 more)	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome	GUncertain significance
Select item 2440597	NM_001012614.2(CTBP1):c.411G>C (p.Gln137His)	CTBP1 (Q137H +1 more)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome +1 more	GUncertain significance
Select item 2440595	NM_001012614.2(CTBP1):c.336G>A (p.Ala112=)	CTBP1	Single nucleotide variant (synonymous variant)	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome	GUncertain significance
Select item 2440593	NM_001012614.2(CTBP1):c.68A>G (p.Asp23Gly)	CTBP1 (D23G +1 more)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome	GUncertain significance