ClinVar for MedGen (Select 1674500) - ClinVar - NCBI

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Items: 13

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 12993521.	NM_006757.4(TNNT3):c.176T>C (p.Ile59Thr) GRCh37: Chr11:1954955 GRCh38: Chr11:1933725	TNNT3	I40T, I51T, I55T, I57T, I58T, I59T, I62T, I70T	Arthrogryposis, distal, type 2B2	Uncertain significance (Aug 23, 2021)	criteria provided, single submitter
Select item 11854292.	NM_006757.4(TNNT3):c.681+63T>C GRCh37: Chr11:1956212 GRCh38: Chr11:1934982	TNNT3		not provided, Arthrogryposis, distal, type 2B2	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 11854283.	NM_006757.4(TNNT3):c.107-115T>C GRCh37: Chr11:1950925 GRCh38: Chr11:1929695	TNNT3		not provided, Arthrogryposis, distal, type 2B2	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 11854274.	NM_006757.4(TNNT3):c.107-134T>G GRCh37: Chr11:1950906 GRCh38: Chr11:1929676	TNNT3		not provided, Arthrogryposis, distal, type 2B2	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 11725495.	NM_006757.4(TNNT3):c.187C>A (p.Arg63Ser) GRCh37: Chr11:1954966 GRCh38: Chr11:1933736	TNNT3	R44S, R55S, R59S, R61S, R62S, R63S, R66S, R74S	Arthrogryposis, distal, type 2B2	Likely pathogenic (Jun 7, 2021)	criteria provided, single submitter
Select item 10285516.	NM_006757.4(TNNT3):c.723-2A>G GRCh37: Chr11:1959666 GRCh38: Chr11:1938436	TNNT3		Arthrogryposis, distal, type 2B2	Pathogenic (May 5, 2020)	criteria provided, single submitter
Select item 10285507.	NM_006757.4(TNNT3):c.464G>A (p.Ser155Asn) GRCh37: Chr11:1955659 GRCh38: Chr11:1934429	TNNT3	S136N, S154N, S151N, S155N, S147N, S153N, S166N, S158N, S87N	Arthrogryposis, distal, type 2B2	Uncertain significance (Feb 13, 2020)	criteria provided, single submitter
Select item 4298658.	NM_006757.4(TNNT3):c.524AGA[2] (p.Lys177del) GRCh37: Chr11:1955817-1955819 GRCh38: Chr11:1934587-1934589	TNNT3	K177del, K109del, K188del, K158del, K169del, K175del, K180del, K173del, K176del	TNNT3-related condition, not provided, Arthrogryposis, distal, type 2B2	Uncertain significance (Oct 4, 2023)	criteria provided, multiple submitters, no conflicts
Select item 2600329.	NM_006757.4(TNNT3):c.83-48A>G GRCh37: Chr11:1950302 GRCh38: Chr11:1929072	TNNT3		not specified, not provided, Arthrogryposis, distal, type 2B2	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 3187410.	NM_006757.4(TNNT3):c.187C>T (p.Arg63Cys) GRCh37: Chr11:1954966 GRCh38: Chr11:1933736	TNNT3	R63C, R62C, R66C, R44C, R55C, R61C, R74C, R59C	Arthyrgryposis, distal, type 2B, Arthrogryposis, distal, type 2B2, not provided	Pathogenic/Likely pathogenic (Dec 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3186911.	NM_006757.4(TNNT3):c.32-149A>T GRCh37: Chr11:1944636 GRCh38: Chr11:1923406	TNNT3		not provided, Arthrogryposis, distal, type 2B2	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 3186812.	NM_006757.4(TNNT3):c.18-76A>G GRCh37: Chr11:1944202 GRCh38: Chr11:1922972	TNNT3		not provided, Arthrogryposis, distal, type 2B2	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 891313.	NM_006757.4(TNNT3):c.188G>A (p.Arg63His) GRCh37: Chr11:1954967 GRCh38: Chr11:1933737	TNNT3	R63H, R59H, R61H, R66H, R44H, R55H, R62H, R74H	Arthrogryposis, distal, type 2B2, Arthyrgryposis, distal, type 2B, not provided	Pathogenic/Likely pathogenic (Aug 23, 2023)	criteria provided, multiple submitters, no conflicts