ClinVar for MedGen (Select 324513) - ClinVar

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Items: 41

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26275161.	NM_003289.4(TPM2):c.144G>T (p.Lys48Asn) GRCh37: Chr9:35689239 GRCh38: Chr9:35689242	TPM2	K48N	Nemaline myopathy 4	Uncertain significance	criteria provided, single submitter
Select item 25854802.	NM_003289.4(TPM2):c.784G>T (p.Ala262Ser) GRCh37: Chr9:35683227 GRCh38: Chr9:35683230	TPM2	A262S	Nemaline myopathy 4	Uncertain significance	criteria provided, single submitter
Select item 15659343.	NM_003289.4(TPM2):c.564-20_564-19dup GRCh37: Chr9:35684822-35684823 GRCh38: Chr9:35684825-35684826	TPM2		Arthrogryposis, distal, type 1A, Nemaline myopathy 4, Congenital myopathy with fiber type disproportion, Arthrogryposis, distal, type 1A	Benign/Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12996034.	NM_213674.1(TPM2):c.773-2A>C GRCh37: Chr9:35682162 GRCh38: Chr9:35682165	TPM2		Nemaline myopathy 4	Likely pathogenic (Oct 6, 2021)	criteria provided, single submitter
Select item 10285935.	NM_003289.4(TPM2):c.773-5C>G GRCh37: Chr9:35683243 GRCh38: Chr9:35683246	TPM2		Nemaline myopathy 4	Uncertain significance (Jan 15, 2019)	criteria provided, single submitter
Select item 9773006.	NM_003289.4(TPM2):c.782A>G (p.Tyr261Cys) GRCh37: Chr9:35683229 GRCh38: Chr9:35683232	TPM2	Y261C	TPM2-related myopathy, not provided, Nemaline myopathy 4, Arthrogryposis, distal, type 1A	Pathogenic/Likely pathogenic (Sep 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 9149137.	NM_213674.1(TPM2):c.-118G>A GRCh37: Chr9:35689932 GRCh38: Chr9:35689935	TPM2		Nemaline myopathy 4, Arthrogryposis, distal, type 1A	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 9148618.	NM_003289.4(TPM2):c.*194C>T GRCh37: Chr9:35682962 GRCh38: Chr9:35682965	TPM2		Arthrogryposis, distal, type 1A, Nemaline myopathy 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 9148609.	NM_003289.4(TPM2):c.*199C>T GRCh37: Chr9:35682957 GRCh38: Chr9:35682960	TPM2		Arthrogryposis, distal, type 1A, Nemaline myopathy 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91440010.	NM_003289.4(TPM2):c.558C>T (p.Ala186=) GRCh37: Chr9:35685271 GRCh38: Chr9:35685274	TPM2		Arthrogryposis, distal, type 1A, Nemaline myopathy 4	Conflicting interpretations of pathogenicity (Feb 20, 2022)	criteria provided, conflicting interpretations
Select item 91328411.	NM_003289.4(TPM2):c.569G>A (p.Cys190Tyr) GRCh37: Chr9:35684799 GRCh38: Chr9:35684802	TPM2	C190Y	Arthrogryposis, distal, type 1A, Nemaline myopathy 4	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 91328312.	NM_003289.4(TPM2):c.760G>A (p.Asp254Asn) GRCh37: Chr9:35684255 GRCh38: Chr9:35684258	TPM2	D254N	Nemaline myopathy 4, Arthrogryposis, distal, type 1A	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 91295813.	NM_213674.1(TPM2):c.-142C>T GRCh37: Chr9:35689956 GRCh38: Chr9:35689959	TPM2		Nemaline myopathy 4, Arthrogryposis, distal, type 1A	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91291514.	NM_003289.4(TPM2):c.*22C>A GRCh37: Chr9:35683134 GRCh38: Chr9:35683137	TPM2		Nemaline myopathy 4, Arthrogryposis, distal, type 1A	Uncertain significance (Feb 2, 2018)	criteria provided, single submitter
Select item 67024215.	NM_213674.1(TPM2):c.-135T>A GRCh37: Chr9:35689949 GRCh38: Chr9:35689952	TPM2		not provided, Nemaline myopathy 4, Arthrogryposis, distal, type 1A	Benign (Jun 19, 2018)	criteria provided, multiple submitters, no conflicts
Select item 67024116.	NM_213674.1(TPM2):c.-136T>A GRCh37: Chr9:35689950 GRCh38: Chr9:35689953	TPM2		not provided, Nemaline myopathy 4, Arthrogryposis, distal, type 1A	Benign (Jun 19, 2018)	criteria provided, multiple submitters, no conflicts
Select item 67024017.	NM_213674.1(TPM2):c.-137T>A GRCh37: Chr9:35689951 GRCh38: Chr9:35689954	TPM2		not provided, Arthrogryposis, distal, type 1A, Nemaline myopathy 4	Benign (Jun 19, 2018)	criteria provided, multiple submitters, no conflicts
Select item 61758818.	NM_003289.4(TPM2):c.269G>A (p.Arg90His) GRCh37: Chr9:35685749 GRCh38: Chr9:35685752	TPM2	R90H	Nemaline myopathy 4	Likely pathogenic (Oct 8, 2018)	criteria provided, single submitter
Select item 54855619.	NM_213674.1(TPM2):c.826C>G (p.Gln276Glu) GRCh37: Chr9:35682107 GRCh38: Chr9:35682110	TPM2	Q276E	Distal arthrogryposis type 2B1, Arthrogryposis, distal, type 1A, Nemaline myopathy 4	Uncertain significance (Mar 5, 2018)	criteria provided, single submitter
Select item 45872320.	NM_003289.4(TPM2):c.374+9G>C GRCh37: Chr9:35685635 GRCh38: Chr9:35685638	TPM2		Arthrogryposis, distal, type 1A, Nemaline myopathy 4	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 36677521.	NM_213674.1(TPM2):c.-238C>T GRCh37: Chr9:35690052 GRCh38: Chr9:35690055	TPM2		Arthrogryposis, distal, type 1A, Nemaline myopathy 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36677422.	NM_213674.1(TPM2):c.-158C>A GRCh37: Chr9:35689972 GRCh38: Chr9:35689975	TPM2		Arthrogryposis, distal, type 1A, Nemaline myopathy 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36677323.	NM_003289.4(TPM2):c.-92C>T GRCh37: Chr9:35689906 GRCh38: Chr9:35689909	TPM2		Nemaline myopathy 4, Arthrogryposis, distal, type 1A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36677224.	NM_003289.4(TPM2):c.-65C>T GRCh37: Chr9:35689879 GRCh38: Chr9:35689882	TPM2		Nemaline myopathy 4, Arthrogryposis, distal, type 1A	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 36677125.	NM_003289.4(TPM2):c.-10C>A GRCh37: Chr9:35689824 GRCh38: Chr9:35689827	TPM2		not specified, Nemaline myopathy 4, Arthrogryposis, distal, type 1A	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 36677026.	NM_003289.4(TPM2):c.564-9C>T GRCh37: Chr9:35684813 GRCh38: Chr9:35684816	TPM2		not specified, not provided, Nemaline myopathy 4, Arthrogryposis, distal, type 1A	Conflicting interpretations of pathogenicity (Jul 29, 2022)	criteria provided, conflicting interpretations
Select item 36676727.	NM_003289.4(TPM2):c.813C>T (p.Ser271=) GRCh37: Chr9:35683198 GRCh38: Chr9:35683201	TPM2		Nemaline myopathy 4, Arthrogryposis, distal, type 1A	Benign/Likely benign (Apr 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36676628.	NM_003289.4(TPM2):c.*25A>C GRCh37: Chr9:35683131 GRCh38: Chr9:35683134	TPM2		Nemaline myopathy 4, Arthrogryposis, distal, type 1A	Conflicting interpretations of pathogenicity (Jan 12, 2018)	criteria provided, conflicting interpretations
Select item 36676529.	NM_003289.4(TPM2):c.*99A>G GRCh37: Chr9:35683057 GRCh38: Chr9:35683060	TPM2		Nemaline myopathy 4, Arthrogryposis, distal, type 1A	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 22465830.	NM_003289.4(TPM2):c.181T>C (p.Ser61Pro) GRCh37: Chr9:35689202 GRCh38: Chr9:35689205	TPM2	S61P	Nemaline myopathy 4, Arthrogryposis, distal, type 1A	Conflicting interpretations of pathogenicity (Aug 31, 2021)	criteria provided, conflicting interpretations
Select item 14049631.	NM_003289.4(TPM2):c.773-3C>A GRCh37: Chr9:35683241 GRCh38: Chr9:35683244	TPM2		Arthrogryposis, distal, type 1A, Nemaline myopathy 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 14048632.	NM_003289.4(TPM2):c.14AGA[2] (p.Lys7del) GRCh37: Chr9:35689793-35689795 GRCh38: Chr9:35689796-35689798	TPM2	K7del	not provided, Arthrogryposis, distal, type 1A, Nemaline myopathy 4	Pathogenic (Apr 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 9412533.	NM_003289.4(TPM2):c.773-4_773-3dup GRCh37: Chr9:35683240-35683241 GRCh38: Chr9:35683243-35683244	TPM2		Arthrogryposis, distal, type 1A, Nemaline myopathy 4, Congenital myopathy with fiber type disproportion, not specified, Arthrogryposis, distal, type 1A	Benign/Likely benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9412234.	NM_003289.4(TPM2):c.*8G>A GRCh37: Chr9:35683148 GRCh38: Chr9:35683151	TPM2		not specified, Arthrogryposis, distal, type 1A, Nemaline myopathy 4	Benign (Jan 13, 2018)	criteria provided, multiple submitters, no conflicts
Select item 9412135.	NM_003289.4(TPM2):c.*7C>T GRCh37: Chr9:35683149 GRCh38: Chr9:35683152	TPM2		not specified, Arthrogryposis, distal, type 1A, Nemaline myopathy 4	Benign (Jan 12, 2018)	criteria provided, multiple submitters, no conflicts
Select item 1246736.	NM_003289.4(TPM2):c.606C>G (p.Asn202Lys) GRCh37: Chr9:35684762 GRCh38: Chr9:35684765	TPM2	N202K	Nemaline myopathy 4	Pathogenic (Dec 2, 2008)	no assertion criteria provided
Select item 1246637.	NM_003289.4(TPM2):c.142AAG[1] (p.Lys49del) GRCh37: Chr9:35689236-35689238 GRCh38: Chr9:35689239-35689241	TPM2	K49del	Arthrogryposis, distal, type 1A	Likely pathogenic (Jul 26, 2022)	criteria provided, single submitter
Select item 1246538.	NM_003289.4(TPM2):c.412GAG[1] (p.Glu139del) GRCh37: Chr9:35685506-35685508 GRCh38: Chr9:35685509-35685511	TPM2	E139del	TPM2-related condition, not provided, Nemaline myopathy 4, Arthrogryposis, distal, type 1A	Pathogenic (Jun 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 1246439.	NM_003289.4(TPM2):c.121G>A (p.Glu41Lys) GRCh37: Chr9:35689262 GRCh38: Chr9:35689265	TPM2	E41K	Arthrogryposis, distal, type 1A	Pathogenic (Jun 22, 2022)	criteria provided, single submitter
Select item 1246240.	NM_003289.4(TPM2):c.349G>A (p.Glu117Lys) GRCh37: Chr9:35685669 GRCh38: Chr9:35685672	TPM2	E117K	not provided, Arthrogryposis, distal, type 1A	Pathogenic (Mar 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1246141.	NM_003289.4(TPM2):c.440A>C (p.Gln147Pro) GRCh37: Chr9:35685483 GRCh38: Chr9:35685486	TPM2	Q147P	Arthrogryposis, distal, type 1A	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter

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Items: 41