"GeneDx"[submitter] AND "TALDO1"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 1222189	NM_006755.2(TALDO1):c.222-144C>T	TALDO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286875	NM_006755.2(TALDO1):c.462-29_462-15del	LOC126861110, TALDO1	Microsatellite (intron variant)	not provided	GBenign
Select item 1443853	NM_006755.2(TALDO1):c.469G>A (p.Glu157Lys)	LOC126861110, TALDO1 (E157K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 381759	NM_006755.2(TALDO1):c.574C>T (p.Arg192Cys)	LOC126861110, TALDO1 (R192C)	Single nucleotide variant (missense variant)	Deficiency of transaldolase +1 more	GPathogenic
Select item 420180	NM_006755.2(TALDO1):c.575G>A (p.Arg192His)	TALDO1, LOC126861110 (R192H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 392950	NM_006755.2(TALDO1):c.586T>C (p.Trp196Arg)	LOC126861110, TALDO1 (W196R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 424254	NM_006755.2(TALDO1):c.713T>C (p.Phe238Ser)	TALDO1 (F238S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2413011	NM_006755.2(TALDO1):c.715C>T (p.Arg239Cys)	TALDO1 (R239C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817009	NM_006755.2(TALDO1):c.750dup (p.Asp251Ter)	TALDO1 (D251*)	Duplication (nonsense)	not provided	GLikely pathogenic
Select item 1242856	NC_000011.10:g.765066C>T	TALDO1	Single nucleotide variant	not provided	GBenign
Select item 253804	GRCh37/hg19 11p15.5(chr11:680365-827724)x3	TMEM80, CRACR2B +9 more	Copy number gain	See cases	GUncertain significance