"PreventionGenetics, part of Exact Sciences"[submitter] AND "TALDO1"[g - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2714711	NM_006755.2(TALDO1):c.10T>C (p.Ser4Pro)	TALDO1 (S4P)	Single nucleotide variant (missense variant)	TALDO1-related disorder +1 more	GLikely benign
Select item 735899	NM_006755.2(TALDO1):c.55A>C (p.Lys19Gln)	TALDO1 (K19Q)	Single nucleotide variant (missense variant)	TALDO1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3046090	NM_006755.2(TALDO1):c.61T>A (p.Phe21Ile)	TALDO1 (F21I)	Single nucleotide variant (missense variant)	TALDO1-related disorder	GUncertain significance
Select item 306088	NM_006755.2(TALDO1):c.68C>G (p.Thr23Ser)	TALDO1 (T23S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2043613	NM_006755.2(TALDO1):c.96C>T (p.His32=)	TALDO1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2963559	NM_006755.2(TALDO1):c.98-10A>G	TALDO1	Single nucleotide variant (intron variant)	TALDO1-related disorder +1 more	GLikely benign
Select item 1559180	NM_006755.2(TALDO1):c.138G>A (p.Pro46=)	TALDO1	Single nucleotide variant (synonymous variant)	TALDO1-related disorder +1 more	GLikely benign
Select item 2178988	NM_006755.2(TALDO1):c.168C>T (p.Pro56=)	TALDO1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 306127	NM_006755.2(TALDO1):c.181C>G (p.Leu61Val)	TALDO1 (L61V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 306128	NM_006755.2(TALDO1):c.197T>C (p.Ile66Thr)	TALDO1 (I66T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2156758	NM_006755.2(TALDO1):c.221+7G>C	TALDO1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1971114	NM_006755.2(TALDO1):c.225A>G (p.Ser75=)	TALDO1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 745793	NM_006755.2(TALDO1):c.327A>T (p.Ala109=)	TALDO1	Single nucleotide variant (synonymous variant)	TALDO1-related disorder +1 more	GLikely benign
Select item 1432582	NM_006755.2(TALDO1):c.330G>A (p.Arg110=)	TALDO1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1601481	NM_006755.2(TALDO1):c.347A>T (p.Asp116Val)	TALDO1 (D116V)	Single nucleotide variant (missense variant)	TALDO1-related disorder +1 more	GBenign/Likely benign
Select item 2716010	NM_006755.2(TALDO1):c.372G>A (p.Arg124=)	TALDO1	Single nucleotide variant (synonymous variant)	TALDO1-related disorder +1 more	GLikely benign
Select item 709252	NM_006755.2(TALDO1):c.427C>T (p.Leu143=)	TALDO1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3036389	NM_006755.2(TALDO1):c.432A>G (p.Ser144=)	TALDO1	Single nucleotide variant (synonymous variant)	TALDO1-related disorder	GLikely benign
Select item 3031938	NM_006755.2(TALDO1):c.462-10C>T	LOC126861110, TALDO1	Single nucleotide variant (intron variant)	TALDO1-related disorder	GLikely benign
Select item 2166238	NM_006755.2(TALDO1):c.462-9G>A	LOC126861110, TALDO1	Single nucleotide variant (intron variant)	TALDO1-related disorder +1 more	GLikely benign
Select item 2156000	NM_006755.2(TALDO1):c.501G>A (p.Thr167=)	LOC126861110, TALDO1	Single nucleotide variant (synonymous variant)	TALDO1-related disorder +1 more	GLikely benign
Select item 1549483	NM_006755.2(TALDO1):c.638-5T>C	LOC126861110, TALDO1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3040700	NM_006755.2(TALDO1):c.646_647del (p.Ser216fs)	LOC126861110, TALDO1 (S216fs)	Microsatellite (frameshift variant)	TALDO1-related disorder	GLikely pathogenic
Select item 3057204	NM_006755.2(TALDO1):c.651C>T (p.Val217=)	LOC126861110, TALDO1	Single nucleotide variant (synonymous variant)	TALDO1-related disorder	GLikely benign
Select item 3031477	NM_006755.2(TALDO1):c.656A>G (p.Lys219Arg)	LOC126861110, TALDO1 (K219R)	Single nucleotide variant (missense variant)	TALDO1-related disorder	GUncertain significance
Select item 3051240	NM_006755.2(TALDO1):c.696T>C (p.Ile232=)	TALDO1	Single nucleotide variant (synonymous variant)	TALDO1-related disorder	GLikely benign
Select item 1653549	NM_006755.2(TALDO1):c.835+7C>A	TALDO1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 727787	NM_006755.2(TALDO1):c.897C>T (p.Asn299=)	TALDO1	Single nucleotide variant (synonymous variant)	TALDO1-related disorder +1 more	GLikely benign
Select item 730798	NM_006755.2(TALDO1):c.930C>T (p.Asp310=)	TALDO1	Single nucleotide variant (synonymous variant)	Deficiency of transaldolase +2 more	GConflicting classifications of pathogenicity
Select item 2636699	NM_006755.2(TALDO1):c.931G>A (p.Gly311Arg)	TALDO1 (G311R)	Single nucleotide variant (missense variant)	TALDO1-related disorder	GLikely pathogenic
Select item 3031338	NM_006755.2(TALDO1):c.981A>G (p.Thr327=)	TALDO1	Single nucleotide variant (synonymous variant)	TALDO1-related disorder	GLikely benign
Select item 3048710	NM_006755.2(TALDO1):c.1005T>C (p.Asn335=)	TALDO1	Single nucleotide variant (synonymous variant)	TALDO1-related disorder	GLikely benign
Select item 3029265	NM_006755.2(TALDO1):c.1014G>A (p.Ter338=)	TALDO1	Single nucleotide variant (synonymous variant)	TALDO1-related disorder	GLikely benign
Select item 3051880	NM_006755.2(TALDO1):c.*1C>G	TALDO1	Single nucleotide variant (3 prime UTR variant)	TALDO1-related disorder	GLikely benign
Select item 3050883	NM_006755.2(TALDO1):c.*2G>A	TALDO1	Single nucleotide variant (3 prime UTR variant)	TALDO1-related disorder	GLikely benign
Select item 3033055	NM_006755.2(TALDO1):c.*7C>A	TALDO1	Single nucleotide variant (3 prime UTR variant)	TALDO1-related disorder	GLikely benign

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Items: 36