TALDO1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 154856	GRCh38/hg38 11p15.5(chr11:196855-2116185)x3	LOC130005123, LOC130005124 +204 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	LOC106799843, LOC106865369 +388 more	Copy number gain	See cases	GPathogenic
Select item 57274	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	LOC106783508, LOC106799843 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	ANO9, AP2A2 +332 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 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	AP2A2, BTBD10 +917 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	BGLT3, A-GAMMA3'E +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 306084	NM_006755.1(TALDO1):c.-36_-34CGC[7]	TALDO1	Microsatellite	Deficiency of transaldolase	GUncertain significance
Select item 306083	NM_006755.1(TALDO1):c.-37T>C	TALDO1	Single nucleotide variant	Deficiency of transaldolase	GUncertain significance
Select item 306085	NM_006755.1(TALDO1):c.-30_-19del	TALDO1	Microsatellite	Deficiency of transaldolase	GLikely benign
Select item 306086	NM_006755.1(TALDO1):c.-30C>T	TALDO1	Single nucleotide variant	Deficiency of transaldolase	GUncertain significance
Select item 883045	NM_006755.2(TALDO1):c.-6C>T	TALDO1	Single nucleotide variant (5 prime UTR variant)	Deficiency of transaldolase	GUncertain significance
Select item 1690977	NM_006755.2(TALDO1):c.1A>G (p.Met1Val)	TALDO1 (M1V)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 3173669	NM_006755.2(TALDO1):c.8G>A (p.Ser3Asn)	TALDO1 (S3N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2714711	NM_006755.2(TALDO1):c.10T>C (p.Ser4Pro)	TALDO1 (S4P)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2221277	NM_006755.2(TALDO1):c.16G>C (p.Val6Leu)	TALDO1 (V6L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1926577	NM_006755.2(TALDO1):c.22C>A (p.Arg8Ser)	TALDO1 (R8S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2193270	NM_006755.2(TALDO1):c.30G>A (p.Arg10=)	TALDO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 747285	NM_006755.2(TALDO1):c.36G>A (p.Glu12=)	TALDO1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 306087	NM_006755.2(TALDO1):c.48C>T (p.Asp16=)	TALDO1	Single nucleotide variant (synonymous variant)	Deficiency of transaldolase	GUncertain significance
Select item 2983500	NM_006755.2(TALDO1):c.51G>A (p.Gln17=)	TALDO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 735899	NM_006755.2(TALDO1):c.55A>C (p.Lys19Gln)	TALDO1 (K19Q)	Single nucleotide variant (missense variant)	TALDO1-related condition +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 condition	GUncertain significance
Select item 1478925	NM_006755.2(TALDO1):c.61T>C (p.Phe21Leu)	TALDO1 (F21L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2114277	NM_006755.2(TALDO1):c.63C>A (p.Phe21Leu)	TALDO1 (F21L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 743702	NM_006755.2(TALDO1):c.66C>T (p.Thr22=)	TALDO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 306088	NM_006755.2(TALDO1):c.68C>G (p.Thr23Ser)	TALDO1 (T23S)	Single nucleotide variant (missense variant)	TALDO1-related condition +3 more	GUncertain significance
Select item 2134477	NM_006755.2(TALDO1):c.70G>T (p.Val24Leu)	TALDO1 (V24L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 306089	NM_006755.2(TALDO1):c.78C>G (p.Ala26=)	TALDO1	Single nucleotide variant (synonymous variant)	Deficiency of transaldolase	GUncertain significance
Select item 2043613	NM_006755.2(TALDO1):c.96C>T (p.His32=)	TALDO1	Single nucleotide variant (synonymous variant)	TALDO1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1923526	NM_006755.2(TALDO1):c.97+1G>A	TALDO1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1656003	NM_006755.2(TALDO1):c.97+17G>T	TALDO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1672545	NM_006755.2(TALDO1):c.98-17G>T	TALDO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963559	NM_006755.2(TALDO1):c.98-10A>G	TALDO1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2086769	NM_006755.2(TALDO1):c.98C>T (p.Ala33Val)	TALDO1 (A33V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1559180	NM_006755.2(TALDO1):c.138G>A (p.Pro46=)	TALDO1	Single nucleotide variant (synonymous variant)	TALDO1-related condition +1 more	GLikely benign
Select item 1626720	NM_006755.2(TALDO1):c.153C>T (p.Ala51=)	TALDO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778894	NM_006755.2(TALDO1):c.166C>T (p.Pro56Ser)	TALDO1 (P56S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2178988	NM_006755.2(TALDO1):c.168C>T (p.Pro56=)	TALDO1	Single nucleotide variant (synonymous variant)	TALDO1-related condition +1 more	GBenign/Likely benign
Select item 3173665	NM_006755.2(TALDO1):c.169G>A (p.Ala57Thr)	TALDO1 (A57T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2880813	NM_006755.2(TALDO1):c.177G>A (p.Gln59=)	TALDO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 306127	NM_006755.2(TALDO1):c.181C>G (p.Leu61Val)	TALDO1 (L61V)	Single nucleotide variant (missense variant)	TALDO1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2035623	NM_006755.2(TALDO1):c.183G>A (p.Leu61=)	TALDO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3173666	NM_006755.2(TALDO1):c.185T>C (p.Val62Ala)	TALDO1 (V62A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2052955	NM_006755.2(TALDO1):c.191A>C (p.Glu64Ala)	TALDO1 (E64A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 306128	NM_006755.2(TALDO1):c.197T>C (p.Ile66Thr)	TALDO1 (I66T)	Single nucleotide variant (missense variant)	TALDO1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 2059588	NM_006755.2(TALDO1):c.208C>T (p.Arg70Trp)	TALDO1 (R70W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2246261	NM_006755.2(TALDO1):c.209G>A (p.Arg70Gln)	TALDO1 (R70Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2683127	NM_006755.2(TALDO1):c.218G>A (p.Gly73Asp)	TALDO1 (G73D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2123380	NM_006755.2(TALDO1):c.221+7G>T	TALDO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798998	NM_006755.2(TALDO1):c.221+17G>A	TALDO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2104420	NM_006755.2(TALDO1):c.221+17G>T	TALDO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222189	NM_006755.2(TALDO1):c.222-144C>T	TALDO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 58855	GRCh38/hg38 11p15.5(chr11:758848-1998025)x1	AP2A2, BRSK2 +115 more	Copy number loss	See cases	GPathogenic
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 2067994	NM_006755.2(TALDO1):c.245A>T (p.Asn82Ile)	TALDO1 (N82I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3173667	NM_006755.2(TALDO1):c.268T>G (p.Leu90Val)	TALDO1 (L90V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2698501	NM_006755.2(TALDO1):c.288A>G (p.Leu96=)	TALDO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 306129	NM_006755.2(TALDO1):c.293A>T (p.Lys98Met)	TALDO1 (K98M)	Single nucleotide variant (missense variant)	Deficiency of transaldolase	GUncertain significance
Select item 2249213	NM_006755.2(TALDO1):c.295A>G (p.Ile99Val)	TALDO1 (I99V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2414095	NM_006755.2(TALDO1):c.300G>A (p.Pro100=)	TALDO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1482269	NM_006755.2(TALDO1):c.314C>T (p.Thr105Ile)	TALDO1 (T105I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 745793	NM_006755.2(TALDO1):c.327A>T (p.Ala109=)	TALDO1	Single nucleotide variant (synonymous variant)	TALDO1-related condition +1 more	GLikely benign
Select item 523493	NM_006755.2(TALDO1):c.328A>G (p.Arg110Gly)	TALDO1 (R110G)	Single nucleotide variant (missense variant)	Microcephaly +3 more	GUncertain significance
Select item 2102293	NM_006755.2(TALDO1):c.329+15T>C	TALDO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790161	NM_006755.2(TALDO1):c.330-13C>G	TALDO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1432581	NM_006755.2(TALDO1):c.330-10_330-3del	TALDO1	Deletion (intron variant)	not provided	GUncertain significance
Select item 1034304	NM_006755.2(TALDO1):c.330-10_330delinsAGA	TALDO1	Indel (splice acceptor variant)	Deficiency of transaldolase	GUncertain significance
Select item 1432582	NM_006755.2(TALDO1):c.330G>A (p.Arg110=)	TALDO1	Single nucleotide variant (synonymous variant)	TALDO1-related condition +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 condition +1 more	GBenign/Likely benign
Select item 2846339	NM_006755.2(TALDO1):c.351G>C (p.Ala117=)	TALDO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 883971	NM_006755.2(TALDO1):c.356T>C (p.Val119Ala)	TALDO1 (V119A)	Single nucleotide variant (missense variant)	Deficiency of transaldolase	GUncertain significance
Select item 2200701	NM_006755.2(TALDO1):c.370C>T (p.Arg124Trp)	TALDO1 (R124W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716010	NM_006755.2(TALDO1):c.372G>A (p.Arg124=)	TALDO1	Single nucleotide variant (synonymous variant)	TALDO1-related condition +1 more	GLikely benign
Select item 1578065	NM_006755.2(TALDO1):c.375C>T (p.Leu125=)	TALDO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2187377	NM_006755.2(TALDO1):c.379G>A (p.Glu127Lys)	TALDO1 (E127K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1918348	NM_006755.2(TALDO1):c.385T>C (p.Tyr129His)	TALDO1 (Y129H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1955179	NM_006755.2(TALDO1):c.396T>C (p.Ala132=)	TALDO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1522175	NM_006755.2(TALDO1):c.400A>G (p.Ile134Val)	TALDO1 (I134V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2019675	NM_006755.2(TALDO1):c.401T>G (p.Ile134Ser)	TALDO1 (I134S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 306130	NM_006755.2(TALDO1):c.402C>T (p.Ile134=)	TALDO1	Single nucleotide variant (synonymous variant)	Deficiency of transaldolase	GUncertain significance
Select item 1440182	NM_006755.2(TALDO1):c.409G>A (p.Asp137Asn)	TALDO1 (D137N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 684557	NM_006755.2(TALDO1):c.409G>T (p.Asp137Tyr)	TALDO1 (D137Y)	Single nucleotide variant (missense variant)	Deficiency of transaldolase	Gnot provided
Select item 1694046	NM_006755.2(TALDO1):c.413G>A (p.Arg138Gln)	TALDO1 (R138Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 709252	NM_006755.2(TALDO1):c.427C>T (p.Leu143=)	TALDO1	Single nucleotide variant (synonymous variant)	TALDO1-related condition +1 more	GLikely benign
Select item 3036389	NM_006755.2(TALDO1):c.432A>G (p.Ser144=)	TALDO1	Single nucleotide variant (synonymous variant)	TALDO1-related condition	GLikely benign
Select item 1370229	NM_006755.2(TALDO1):c.457G>A (p.Gly153Arg)	TALDO1 (G153R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2599829	NM_006755.2(TALDO1):c.458G>A (p.Gly153Glu)	TALDO1 (G153E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2019984	NM_006755.2(TALDO1):c.461+11C>T	TALDO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 306131	NM_006755.2(TALDO1):c.461+14C>T	TALDO1	Single nucleotide variant (intron variant)	Deficiency of transaldolase +1 more	GConflicting classifications of pathogenicity
Select item 2757225	NM_006755.2(TALDO1):c.461+18A>T	TALDO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1618914	NM_006755.2(TALDO1):c.461+18A>C	TALDO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286875	NM_006755.2(TALDO1):c.462-29_462-15del	LOC126861110, TALDO1	Microsatellite (intron variant)	not provided	GBenign
Select item 1652191	NM_006755.2(TALDO1):c.462-21_462-6del	LOC126861110, TALDO1	Deletion (intron variant)	not provided	GBenign
Select item 1654609	NM_006755.2(TALDO1):c.462-16T>C	LOC126861110, TALDO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1910301	NM_006755.2(TALDO1):c.462-14T>C	LOC126861110, TALDO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3031938	NM_006755.2(TALDO1):c.462-10C>T	LOC126861110, TALDO1	Single nucleotide variant (intron variant)	TALDO1-related condition	GLikely benign
Select item 2166238	NM_006755.2(TALDO1):c.462-9G>A	LOC126861110, TALDO1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign

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