ClinVar for MedGen (Select 224855) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 55

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25851891.	NM_006755.2(TALDO1):c.695_696del (p.Ile232fs) GRCh37: Chr11:763804-763805 GRCh38: Chr11:763804-763805	TALDO1	I232fs	Deficiency of transaldolase	Likely pathogenic	criteria provided, single submitter
Select item 25750472.	NM_006755.2(TALDO1):c.512C>T (p.Ser171Phe) GRCh37: Chr11:763394 GRCh38: Chr11:763394	LOC126861110, TALDO1	S171F	Deficiency of transaldolase	Likely pathogenic	no assertion criteria provided
Select item 24369373.	NM_006755.2(TALDO1):c.568G>T (p.Val190Phe) GRCh37: Chr11:763450 GRCh38: Chr11:763450	LOC126861110, TALDO1	V190F	Deficiency of transaldolase	Uncertain significance (Dec 22, 2021)	criteria provided, single submitter
Select item 19673124.	NM_006755.2(TALDO1):c.643_644del (p.Lys215fs) GRCh37: Chr11:763751-763752 GRCh38: Chr11:763751-763752	LOC126861110, TALDO1	K215fs	not provided, Deficiency of transaldolase	Pathogenic (Dec 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 13988185.	NM_006755.2(TALDO1):c.871G>A (p.Glu291Lys) GRCh37: Chr11:764323 GRCh38: Chr11:764323	TALDO1	E291K	not provided, Deficiency of transaldolase	Uncertain significance (Jul 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10343046.	NM_006755.2(TALDO1):c.330-10_330delinsAGA GRCh37: Chr11:760112-760122 GRCh38: Chr11:760112-760122	TALDO1		Deficiency of transaldolase	Uncertain significance (Apr 20, 2018)	criteria provided, single submitter
Select item 10285497.	NM_006755.2(TALDO1):c.982G>A (p.Glu328Lys) GRCh37: Chr11:764813 GRCh38: Chr11:764813	TALDO1	E328K	Deficiency of transaldolase	Uncertain significance (May 5, 2020)	criteria provided, single submitter
Select item 10285488.	NM_006755.2(TALDO1):c.888G>A (p.Trp296Ter) GRCh37: Chr11:764340 GRCh38: Chr11:764340	TALDO1	W296*	Deficiency of transaldolase	Uncertain significance (Jun 8, 2020)	criteria provided, single submitter
Select item 9747729.	NM_006755.2(TALDO1):c.669C>G (p.Tyr223Ter) GRCh37: Chr11:763778 GRCh38: Chr11:763778	LOC126861110, TALDO1	Y223*	Deficiency of transaldolase	Pathogenic (Jun 2, 2020)	no assertion criteria provided
Select item 97347810.	NM_006755.2(TALDO1):c.884G>A (p.Arg295His) GRCh37: Chr11:764336 GRCh38: Chr11:764336	TALDO1	R295H	Deficiency of transaldolase	Uncertain significance (Apr 1, 2020)	criteria provided, single submitter
Select item 88397211.	NM_006755.2(TALDO1):c.462-4G>A GRCh37: Chr11:763340 GRCh38: Chr11:763340	LOC126861110, TALDO1		not provided, Deficiency of transaldolase	Conflicting interpretations of pathogenicity (Jul 12, 2022)	criteria provided, conflicting interpretations
Select item 88397112.	NM_006755.2(TALDO1):c.356T>C (p.Val119Ala) GRCh37: Chr11:760148 GRCh38: Chr11:760148	TALDO1	V119A	Deficiency of transaldolase	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88304513.	NM_006755.2(TALDO1):c.-6C>T GRCh37: Chr11:747476 GRCh38: Chr11:747476	TALDO1		Deficiency of transaldolase	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88209314.	NM_006755.2(TALDO1):c.956C>T (p.Ala319Val) GRCh37: Chr11:764408 GRCh38: Chr11:764408	TALDO1	A319V	Deficiency of transaldolase	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88068615.	NM_006755.2(TALDO1):c.784G>C (p.Glu262Gln) GRCh37: Chr11:763893 GRCh38: Chr11:763893	TALDO1	E262Q	Deficiency of transaldolase, not provided	Uncertain significance (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88068516.	NM_006755.2(TALDO1):c.706G>A (p.Ala236Thr) GRCh37: Chr11:763815 GRCh38: Chr11:763815	TALDO1	A236T	Deficiency of transaldolase, not provided	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88068417.	NM_006755.2(TALDO1):c.480C>T (p.His160=) GRCh37: Chr11:763362 GRCh38: Chr11:763362	LOC126861110, TALDO1		Deficiency of transaldolase, not provided	Uncertain significance (May 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 81270418.	NM_006755.2(TALDO1):c.715C>G (p.Arg239Gly) GRCh37: Chr11:763824 GRCh38: Chr11:763824	TALDO1	R239G	Deficiency of transaldolase	Pathogenic (Feb 1, 2020)	no assertion criteria provided
Select item 80077919.	NM_006755.2(TALDO1):c.604G>A (p.Asp202Asn) GRCh37: Chr11:763486 GRCh38: Chr11:763486	LOC126861110, TALDO1	D202N	not provided	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 74728520.	NM_006755.2(TALDO1):c.36G>A (p.Glu12=) GRCh37: Chr11:747517 GRCh38: Chr11:747517	TALDO1		not provided, Deficiency of transaldolase	Conflicting interpretations of pathogenicity (Oct 30, 2022)	criteria provided, conflicting interpretations
Select item 73079821.	NM_006755.2(TALDO1):c.930C>T (p.Asp310=) GRCh37: Chr11:764382 GRCh38: Chr11:764382	TALDO1		not provided, Deficiency of transaldolase	Conflicting interpretations of pathogenicity (Jul 30, 2022)	criteria provided, conflicting interpretations
Select item 68455722.	NM_006755.2(TALDO1):c.409G>T (p.Asp137Tyr) GRCh37: Chr11:760201 GRCh38: Chr11:760201	TALDO1	D137Y	Deficiency of transaldolase	not provided	no assertion provided
Select item 62586423.	NM_006755.2(TALDO1):c.931G>T (p.Gly311Trp) GRCh37: Chr11:764383 GRCh38: Chr11:764383	TALDO1	G311W	Deficiency of transaldolase	Pathogenic (Jun 2, 2020)	no assertion criteria provided
Select item 42018024.	NM_006755.2(TALDO1):c.575G>A (p.Arg192His) GRCh37: Chr11:763457 GRCh38: Chr11:763457	TALDO1, LOC126861110	R192H	not provided, Deficiency of transaldolase	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 38175925.	NM_006755.2(TALDO1):c.574C>T (p.Arg192Cys) GRCh37: Chr11:763456 GRCh38: Chr11:763456	LOC126861110, TALDO1	R192C	not provided, Deficiency of transaldolase	Pathogenic (Sep 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 36897426.	NM_006755.1(TALDO1):c.*192G>A GRCh37: Chr11:765037 GRCh38: Chr11:765037	TALDO1		Deficiency of transaldolase	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 30614527.	NM_006755.2(TALDO1):c.*33C>T GRCh37: Chr11:764878 GRCh38: Chr11:764878	TALDO1		Deficiency of transaldolase	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30614428.	NM_006755.2(TALDO1):c.*30C>T GRCh37: Chr11:764875 GRCh38: Chr11:764875	TALDO1		Deficiency of transaldolase	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30614329.	NM_006755.2(TALDO1):c.*12G>A GRCh37: Chr11:764857 GRCh38: Chr11:764857	TALDO1		Deficiency of transaldolase	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30614230.	NM_006755.2(TALDO1):c.*9T>C GRCh37: Chr11:764854 GRCh38: Chr11:764854	TALDO1		Deficiency of transaldolase	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30614131.	NM_006755.2(TALDO1):c.982-8_982-5del GRCh37: Chr11:764800-764803 GRCh38: Chr11:764800-764803	TALDO1		not provided, Deficiency of transaldolase	Conflicting interpretations of pathogenicity (Oct 29, 2022)	criteria provided, conflicting interpretations
Select item 30614032.	NM_006755.2(TALDO1):c.971G>A (p.Arg324Gln) GRCh37: Chr11:764423 GRCh38: Chr11:764423	TALDO1	R324Q	Deficiency of transaldolase	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30613933.	NM_006755.2(TALDO1):c.962A>G (p.Lys321Arg) GRCh37: Chr11:764414 GRCh38: Chr11:764414	TALDO1	K321R	not provided, Deficiency of transaldolase	Benign/Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30613834.	NM_006755.2(TALDO1):c.952G>A (p.Asp318Asn) GRCh37: Chr11:764404 GRCh38: Chr11:764404	TALDO1	D318N	Deficiency of transaldolase	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30613735.	NM_006755.2(TALDO1):c.801C>T (p.Asn267=) GRCh37: Chr11:763910 GRCh38: Chr11:763910	TALDO1		not provided, Deficiency of transaldolase	Benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30613636.	NM_006755.2(TALDO1):c.726C>T (p.Gly242=) GRCh37: Chr11:763835 GRCh38: Chr11:763835	TALDO1		not provided, Deficiency of transaldolase	Uncertain significance (Jun 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30613537.	NM_006755.2(TALDO1):c.662A>G (p.Tyr221Cys) GRCh37: Chr11:763771 GRCh38: Chr11:763771	LOC126861110, TALDO1	Y221C	not provided, Deficiency of transaldolase	Uncertain significance (May 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30613438.	NM_006755.2(TALDO1):c.488A>G (p.His163Arg) GRCh37: Chr11:763370 GRCh38: Chr11:763370	LOC126861110, TALDO1	H163R	Deficiency of transaldolase	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30613339.	NM_006755.2(TALDO1):c.476A>G (p.Gln159Arg) GRCh37: Chr11:763358 GRCh38: Chr11:763358	LOC126861110, TALDO1	Q159R	Inborn genetic diseases, not provided, Deficiency of transaldolase	Conflicting interpretations of pathogenicity (Nov 17, 2022)	criteria provided, conflicting interpretations
Select item 30613240.	NM_006755.2(TALDO1):c.475C>G (p.Gln159Glu) GRCh37: Chr11:763357 GRCh38: Chr11:763357	LOC126861110, TALDO1	Q159E	not provided, Deficiency of transaldolase	Uncertain significance (May 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30613141.	NM_006755.2(TALDO1):c.461+14C>T GRCh37: Chr11:760267 GRCh38: Chr11:760267	TALDO1		not provided, Deficiency of transaldolase	Conflicting interpretations of pathogenicity (May 13, 2022)	criteria provided, conflicting interpretations
Select item 30613042.	NM_006755.2(TALDO1):c.402C>T (p.Ile134=) GRCh37: Chr11:760194 GRCh38: Chr11:760194	TALDO1		Deficiency of transaldolase	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30612943.	NM_006755.2(TALDO1):c.293A>T (p.Lys98Met) GRCh37: Chr11:759021 GRCh38: Chr11:759021	TALDO1	K98M	Deficiency of transaldolase	Uncertain significance (Feb 27, 2018)	criteria provided, multiple submitters, no conflicts
Select item 30612844.	NM_006755.2(TALDO1):c.197T>C (p.Ile66Thr) GRCh37: Chr11:755978 GRCh38: Chr11:755978	TALDO1	I66T	Inborn genetic diseases, not provided, Deficiency of transaldolase	Conflicting interpretations of pathogenicity (Oct 20, 2022)	criteria provided, conflicting interpretations
Select item 30612745.	NM_006755.2(TALDO1):c.181C>G (p.Leu61Val) GRCh37: Chr11:755962 GRCh38: Chr11:755962	TALDO1	L61V	Deficiency of transaldolase, not provided	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30608946.	NM_006755.2(TALDO1):c.78C>G (p.Ala26=) GRCh37: Chr11:747559 GRCh38: Chr11:747559	TALDO1		Deficiency of transaldolase	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30608847.	NM_006755.2(TALDO1):c.68C>G (p.Thr23Ser) GRCh37: Chr11:747549 GRCh38: Chr11:747549	TALDO1	T23S	Inborn genetic diseases, not provided, Deficiency of transaldolase	Uncertain significance (Aug 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30608748.	NM_006755.2(TALDO1):c.48C>T (p.Asp16=) GRCh37: Chr11:747529 GRCh38: Chr11:747529	TALDO1		Deficiency of transaldolase	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30608649.	NM_006755.1(TALDO1):c.-30C>T GRCh37: Chr11:747452 GRCh38: Chr11:747452	TALDO1		Deficiency of transaldolase	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30608550.	NM_006755.1(TALDO1):c.-30_-19del GRCh37: Chr11:747446-747457 GRCh38: Chr11:747446-747457	TALDO1		Deficiency of transaldolase	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 30608451.	NM_006755.1(TALDO1):c.-36_-34CGC[7] GRCh37: Chr11:747445-747446 GRCh38: Chr11:747445-747446	TALDO1		Deficiency of transaldolase	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30608352.	NM_006755.1(TALDO1):c.-37T>C GRCh37: Chr11:747445 GRCh38: Chr11:747445	TALDO1		Deficiency of transaldolase	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 20861753.	NM_006755.2(TALDO1):c.516dup (p.Ala173fs) GRCh37: Chr11:763397-763398 GRCh38: Chr11:763397-763398	LOC126861110, TALDO1	A173fs	Deficiency of transaldolase	Pathogenic (Dec 30, 2014)	criteria provided, single submitter
Select item 16262254.	NM_006755.2(TALDO1):c.793del (p.Gln265fs) GRCh37: Chr11:763902 GRCh38: Chr11:763902	TALDO1	Q265fs	not provided, Deficiency of transaldolase	Pathogenic (Aug 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 756255.	NM_006755.2(TALDO1):c.512_514del (p.Ser171del) GRCh37: Chr11:763392-763394 GRCh38: Chr11:763392-763394	LOC126861110, TALDO1	S171del	Deficiency of transaldolase	Pathogenic (May 1, 2001)	no assertion criteria provided

ClinVar

Result Filters

Clinical significance

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 55