Full data view for gene TPM2

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the transcript reference sequence.

122 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-288T>C r.(=) p.(=) Parent #1 - benign g.35690102A>G g.35690105A>G - - TPM2_000044 - - - rs1056747 Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.-137T>A r.(?) p.(=) Unknown - benign g.35689951A>T g.35689954A>T - - TPM2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-136T>A r.(?) p.(=) Unknown - benign g.35689950A>T g.35689953A>T - - TPM2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-135T>A r.(?) p.(=) Unknown - benign g.35689949A>T g.35689952A>T - - TPM2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.5A>T r.(?) p.(Asp2Val) Unknown - VUS g.35689810T>A g.35689813T>A - - TPM2_000018 - - - - Germline - - - - - DNA PCR, SEQ - - NEM - - - F - United States - - - - - 1 Tom Winder
?/. 1 c.8C>G r.(?) p.(Ala3Gly) Unknown - VUS g.35689807G>C g.35689810G>C - - TPM2_000035 - - - - De novo - - - - - DNA SEQ - - NEM Fam1 (2693) - - M - - - - - - - 1 Minttu Marttila
?/. 1 c.20_22del r.(?) p.(Lys7del) Unknown - VUS g.35689800_35689802del g.35689803_35689805del 20_22delAGA - TPM2_000023 - - - - Germline - - - - - DNA PCR, SEQ - - NEM - - - F - Canada French-Canadian - - - - 1 Tom Winder
+/. - c.20_22del r.(?) p.(Lys7del) Parent #1 ACMG pathogenic (dominant) g.35689800_35689802del g.35689803_35689805del - - TPM2_000023 - PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - Germline - - - - - DNA SEQ - - DA D13-1137 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - 1 Gianina Ravenscroft
+/. - c.20_22del r.(?) p.(Lys7del) Unknown ACMG pathogenic g.35689800_35689802del g.35689803_35689805del - - TPM2_000023 ACMG PM2 PS4 PP3 PM6 PubMed: Gurgel-Giannetti 2022 - - Germline - - - - - DNA SEQ - - NEM Fam6Pat6 PubMed: Gurgel-Giannetti 2022 - M - Brazil - - - - - 1 Johan den Dunnen
-?/. - c.56T>C r.(?) p.(Ile19Thr) Unknown - likely benign g.35689759A>G - TPM2(NM_003289.3):c.56T>C (p.(Ile19Thr)) - TPM2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.58G>C r.(?) p.(Asp20His) Parent #1 - pathogenic g.35689757C>G g.35689760C>G - - TPM2_000066 - PubMed: Beck 2013 - - Germline - - - - - DNA SEQ - - DA 23401156-y1 PubMed: Beck 2013 - - - United States - - - - - 1 Johan den Dunnen
?/. - c.67G>A r.(?) p.(Glu23Lys) Unknown - VUS g.35689748C>T g.35689751C>T TPM2(NM_001301227.2):c.67G>A (p.E23K) - TPM2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1i c.115-105A>G r.(=) p.(=) Unknown - benign g.35689373T>C g.35689376T>C IVS1 328A>G - TPM2_000003 - PubMed: Donner 2002 - - Germline - 66/158 controls - - - DNA SEQ, SSCA - - Healthy/Control - PubMed: Donner 2002 - - - - - - - - - 66 Johan den Dunnen
-/. 1i c.115-105A>G r.(=) p.(=) Unknown - benign g.35689373T>C g.35689376T>C IVS1 328A>G - TPM2_000003 - PubMed: Donner 2002 - - Germline - 44/158 controls - - - DNA SEQ, SSCA - - Healthy/Control - PubMed: Donner 2002 - - - - - - - - - 44 Johan den Dunnen
-/. 1i c.115-105A>G r.(=) p.(=) Unknown - benign g.35689373T>C g.35689376T>C IVS1 328A>G - TPM2_000003 - PubMed: Donner 2002 - - Germline - 44/158 controls - - - DNA SEQ, SSCA - - Healthy/Control - PubMed: Donner 2002 - - - - - - - - - 44 Johan den Dunnen
+/. 2 c.121G>A r.121g>a p.Glu41Lys Parent #1 - pathogenic g.35689262C>T g.35689265C>T cG360A, G1639A - TPM2_000012 not in 200 control chromosomes PubMed: Tajshargi 2007, PubMed: Nilsson 2008, OMIM:var0005 - - Germline - - BslI- - - DNA SEQ - - NEM 17846275.II2 PubMed: Nilsson 2008 mother of 17846275.III1 F - Sweden - >66y - - - 1 Johan den Dunnen
+/. 2 c.121G>A r.121g>a p.Glu41Lys Maternal (confirmed) - pathogenic g.35689262C>T g.35689265C>T cG360A, G1639A - TPM2_000012 not in 200 control chromosomes PubMed: Tajshargi 2007, PubMed: Nilsson 2008, OMIM:var0005 - - Germline - - BslI- - - DNA SEQ - - NEM 17846275.III1 PubMed: Nilsson 2008 daugther of 17846275.II2 F - Sweden - >35y - - - 1 Johan den Dunnen
+/. 2 c.140_148del r.(?) p.(Gln47_Lys49del) Parent #1 - pathogenic g.35689236_35689244del g.35689239_35689247del 140_148del10 - TPM2_000065 - PubMed: Beck 2013 - - De novo - - - - - DNA SEQ - - DA 23401156-c1 PubMed: Beck 2013 - - - United States - - - - - 1 Johan den Dunnen
+/. 2 c.145_147del r.(?) p.(Lys49del) Parent #1 - pathogenic g.35689241_35689243del g.35689244_35689246del 384_386del - TPM2_000013 de novo, in patient PubMed: Ohlsson 2008, OMIM:var0007 - - De novo - - - - - DNA SEQ - - NEM 19047562.1 PubMed: Ohlsson 2008 - M - Sweden - - - - - 1 Johan den Dunnen
+/. 2 c.154_156dup r.(?) p.(Gly52dup) Parent #1 - pathogenic g.35689228_35689230dup g.35689231_35689233dup 392_394dupGGG - TPM2_000014 de novo, in patient PubMed: Ohlsson 2008 - - De novo - - - - - DNA SEQ - - NEM 19047562.2 PubMed: Ohlsson 2008 - M - Sweden - - - - - 1 Johan den Dunnen
+?/. 2 c.181T>C r.(?) p.(Ser61Pro) Unknown - likely pathogenic g.35689202A>G g.35689205A>G Chr9(GRCh38):g.35689205A>G - TPM2_000041 no variants in RYR1, ACTA1, TPM3 PubMed: Clarke 2012, Journal: Clarke 2015, PubMed: Punetha 2016 - - De novo - - - - - DNA SEQ-NG-I - - CMYO4A;CFTD Pat1/Pat2 PubMed: Clarke 2012, Journal: Clarke 2015, PubMed: Punetha 2016 - M - - - - - - - 1 Jaya Punetha
?/. - c.226A>C r.(?) p.(Lys76Gln) Unknown - VUS g.35689157T>G - TPM2(NM_003289.3):c.226A>C (p.(Lys76Gln)) - TPM2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2i c.240+2T>G r.spl p.? Unknown - likely pathogenic g.35689141A>C g.35689144A>C - - TPM2_000025 - - - - De novo - - - - - DNA PCR, SEQ - - arthrogryposis - - - - - United States - - - - - 1 Tom Winder
?/. 2i c.240+2T>G r.spl p.? Unknown - VUS g.35689141A>C g.35689144A>C - - TPM2_000025 - - - - De novo - - - - - DNA SEQ - - DA Fam19 - - F - - - - - - - 1 Minttu Marttila
+?/. 2i c.240+4_240+7del r.spl? p.(del?) Unknown - likely pathogenic g.35689139_35689142del g.35689142_35689145del - - TPM2_000016 - - - - Germline - - - - - DNA PCR, SEQ - - ? - - - - - (United States) SE Asian - - - - 1 Tom Winder
?/. 2i c.240+5G>A r.spl? p.? Unknown - VUS g.35689138C>T g.35689141C>T - - TPM2_000022 - - - - De novo - - - - - DNA PCR, SEQ - - DA - - - - - United States - - - - - 1 Tom Winder
?/. 3i c.240+5G>A r.spl? p.? Unknown - VUS g.35689138C>T g.35689141C>T - - TPM2_000022 - - - - De novo - - - - - DNA SEQ - - DA Fam 20 - - F - - - - - - - 1 Minttu Marttila
+/. 3 c.271C>G r.(?) p.(Arg91Gly) Unknown - pathogenic (dominant) g.35685747G>C g.35685750G>C - - TPM2_000009 not in 140 control chromosomes PubMed: Sung 2003, OMIM:var0001 - - Germline - - SacII+ - - DNA SEQ - - DA - PubMed: Sung 2003 4 generation family, 14 affecteds - - - - - - - - 14 Johan den Dunnen
?/. - c.271C>T r.(?) p.(Arg91Cys) Unknown - VUS g.35685747G>A g.35685750G>A TPM2(NM_001301227.1):c.271C>T (p.R91C) - CA9_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.272G>A r.(?) p.(Arg91His) Unknown - VUS g.35685746C>T - TPM2(NM_001301227.1):c.272G>A (p.R91H) - CA9_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.278A>G r.(?) p.(Gln93Arg) Unknown - VUS g.35685740T>C g.35685743T>C - - TPM2_000019 - - - - Germline - - - - - DNA PCR, SEQ - - ? - - - F - United States - - - - - 1 Tom Winder
+?/. 3 c.279G>C r.(?) p.(Gln93His) Unknown - likely pathogenic g.35685739C>G g.35685742C>G - - TPM2_000036 - - - - De novo yes - - - - DNA SEQ - - MYOP Fam22 (5932, 5933) - affected mother/son F - - - - - - - 2 Minttu Marttila
+/. 3 c.289G>A r.(?) p.(Glu97Lys) Parent #1 - pathogenic g.35685729C>T g.35685732C>T - - TPM2_000064 - PubMed: Beck 2013 - - De novo - - - - - DNA SEQ - - DA 23401156-j1 PubMed: Beck 2013 - - - United States - - - - - 1 Johan den Dunnen
+/. 3 c.299A>G r.(?) p.(Asp100Gly) Parent #1 - pathogenic g.35685719T>C g.35685722T>C - - TPM2_000063 - PubMed: Beck 2013 - - De novo - - - - - DNA SEQ - - DA 23401156-k1 PubMed: Beck 2013 - - - United States - - - - - 1 Johan den Dunnen
+/. 3 c.314G>C r.(?) p.(Arg105Pro) Parent #1 - pathogenic g.35685704C>G g.35685707C>G - - TPM2_000062 - PubMed: Beck 2013 - - Germline - - - - - DNA SEQ - - DA 23401156-l1 PubMed: Beck 2013 - - - United States - - - - - 1 Johan den Dunnen
+/. 3 c.349G>A r.(?) p.(Glu117Lys) Parent #1 - pathogenic g.35685669C>T g.35685672C>T Gln117Lys, not possible - TPM2_000002 de novo, in patient PubMed: Donner 2002, OMIM:var0003 - - De novo - - - - - DNA SEQ, SSCA - - NEM 11738357.2m PubMed: Brandis 2008 mother of 11738357.2s F - Bosnia and Herzegovina - >45y - - - 1 Johan den Dunnen
+/. 3 c.349G>A r.349g>a p.Glu117Lys Maternal (confirmed) - pathogenic g.35685669C>T g.35685672C>T Gln117Lys, not possible - TPM2_000002 RNA muscle PubMed: Donner 2002, OMIM:var0003 - - Germline - - - - - DNA SEQ, SSCA - - NEM 11738357.2s PubMed: Brandis 2008 son of 11738357.2m M - Bosnia and Herzegovina - - - - - 1 Johan den Dunnen
+/. 3 c.349G>A r.(?) p.(Glu117Lys) Parent #1 - pathogenic (dominant) g.35685669C>T g.35685672C>T - - TPM2_000002 mapped by linkage, candidate gene sequencing J Goto ASHG 2010 A905 - - Germline - - - - - DNA SEQ - - NEM - J Goto ASHG 2010 A905 3-generation family, 7 affecteds, affected father proband deceased M - Japan - >64y - - - 7 Johan den Dunnen
+/. 3 c.349G>A r.(?) p.(Glu117Lys) Unknown - pathogenic g.35685669C>T g.35685672C>T - - TPM2_000002 - - - - Unknown - - - - - DNA PCR, SEQ - - CMYO4A;CFTD - - - F - United States - - - - - 1 Tom Winder
+/. 3 c.349G>C r.(?) p.(Glu117Gln) Unknown - pathogenic g.35685669C>G g.35685672C>G - - TPM2_000027 - - - - De novo - - - - - DNA PCR, SEQ - - NEM - - - - - United States - - - - - 1 Tom Winder
-?/. - c.356C>T r.(?) p.(Ala119Val) Unknown - likely benign g.35685662G>A - TPM2(NM_003289.3):c.356C>T (p.(Ala119Val)) - CA9_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.357G>A r.(?) p.(=) Unknown - VUS g.35685661C>T g.35685664C>T - - TPM2_000028 - from website {DBsub-Emory} - - Unknown - - - - - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - - - - 1 Madhuri Hegde
+/. - c.364G>A r.(?) p.(Glu122Lys) Unknown - pathogenic g.35685654C>T - - - CA9_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.382A>G r.(?) p.(Lys128Glu) Unknown - likely pathogenic g.35685541T>C g.35685544T>C - - TPM2_000037 - - - - De novo - - - - - DNA SEQ - - CMYO4A;CFTD Fam26 (20-393) - - M - - - - - - - 1 Minttu Marttila
+/. - c.397C>T r.(?) p.(Arg133Trp) Unknown - pathogenic g.35685526G>A g.35685529G>A - - TPM2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.397C>T r.(?) p.(Arg133Trp) Parent #1 - pathogenic g.35685526G>A g.35685529G>A - - TPM2_000010 - PubMed: Beck 2013 - - Germline - - - - - DNA SEQ - - DA 23401156-m1 PubMed: Beck 2013 - - - United States - - - - - 1 Johan den Dunnen
+/. 4 c.397C>T r.(?) p.(Arg133Trp) Parent #1 - pathogenic g.35685526G>A g.35685529G>A - - TPM2_000010 - PubMed: Beck 2013 - - Germline - - - - - DNA SEQ - - DA 23401156-m2 PubMed: Beck 2013 - - - United States - - - - - 1 Johan den Dunnen
+/. 4 c.397C>T r.(?) p.(Arg133Trp) Parent #1 - pathogenic g.35685526G>A g.35685529G>A - - TPM2_000010 - PubMed: Beck 2013 - - Germline - - - - - DNA SEQ - - DA 23401156-m3 PubMed: Beck 2013 - - - United States - - - - - 1 Johan den Dunnen
+/. 4 c.397C>T r.(?) p.(Arg133Trp) Parent #1 - pathogenic g.35685526G>A g.35685529G>A - - TPM2_000010 - PubMed: Beck 2013 - - Germline - - - - - DNA SEQ - - DA 23401156-m4 PubMed: Beck 2013 - - - United States - - - - - 1 Johan den Dunnen
+/. 4 c.397C>T r.(?) p.(Arg133Trp) Parent #1 - pathogenic g.35685526G>A g.35685529G>A - - TPM2_000010 - PubMed: Beck 2013 - - Germline - - - - - DNA SEQ - - DA 23401156-m5 PubMed: Beck 2013 - - - United States - - - - - 1 Johan den Dunnen
+/. 4 c.397C>T r.(?) p.(Arg133Trp) Parent #1 - pathogenic g.35685526G>A g.35685529G>A - - TPM2_000010 - PubMed: Beck 2013 - - Germline - - - - - DNA SEQ - - DA 23401156-n1 PubMed: Beck 2013 - - - United States - - - - - 1 Johan den Dunnen
+/. 4 c.397C>T r.(?) p.(Arg133Trp) Parent #1 - pathogenic g.35685526G>A g.35685529G>A - - TPM2_000010 not in 200 control chromosomes PubMed: Tajsharghi 2007, OMIM:var0004 - - De novo - - BsrI+ - - DNA SEQ - - DA 17339586.II2 PubMed: Tajsharghi 2007, PubMed: Ochala 2007 mother of 17339586.III1 F - Sweden - >65y - - - 1 Johan den Dunnen
+/. 4 c.397C>T r.(?) p.(Arg133Trp) Maternal (confirmed) - pathogenic g.35685526G>A g.35685529G>A - - TPM2_000010 not in 200 control chromosomes PubMed: Tajsharghi 2007, OMIM:var0004 - - Germline - - BsrI+ - - DNA SEQ - - DA 17339586.III1 PubMed: Tajsharghi 2007, PubMed: Ochala 2007 daugther of 17339586.II2 F - Sweden - >28y - - - 1 Johan den Dunnen
+?/. 4 c.398G>C r.(?) p.(Arg133Pro) Unknown - likely pathogenic g.35685525C>G g.35685528C>G - - TPM2_000024 - - - - De novo - - - - - DNA PCR, SEQ - - arthrogryposis - - - M - United States - - - - - 1 Tom Winder
+?/. 4 c.398G>C r.(?) p.(Arg133Pro) Unknown - likely pathogenic g.35685525C>G g.35685528C>G - - TPM2_000024 - - - - Somatic - - - - - DNA SEQ - - CMYO4A;CFTD Fam29 - - M - - - - - - - 1 Minttu Marttila
+/. 4 c.415_417del r.(?) p.(Glu139del) Parent #1 - pathogenic g.35685509_35685511del g.35685512_35685514del 412_414delGAG - TPM2_000011 0/228 control chromosomes; de novo, in patient PubMed: Clarke 2009 - - De novo - - - - - DNA SEQ - - NEM - PubMed: Clarke 2009 - F - Australia - - - - - 1 Johan den Dunnen
+/. 4 c.415_417del r.(?) p.(Glu139del) Paternal (inferred) - pathogenic g.35685509_35685511del g.35685512_35685514del 415_417delGAG - TPM2_000011 no DNA father; not in 200 control chromosomes PubMed: Lehtokari 2007, OMIM:var0006 - - Germline - - - - - DNA SEQ - - NEM 17434307.1 PubMed: Lehtokari 2007 - M - - - >36y - - - 1 Johan den Dunnen
+?/. - c.415_417del r.(?) p.(Glu139del) Parent #1 - likely pathogenic g.35685509_35685511del g.35685512_35685514del - - TPM2_000011 - PubMed: Gonzalez-Quereda 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 166-gene panel NMD P53 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - - - - 1 Johan den Dunnen
+/. - c.415_417del r.(?) p.(Glu139del) Maternal (confirmed) - pathogenic (dominant) g.35685509_35685511del g.35685512_35685514del - - TPM2_000011 mosaic (0.10-0.15) in healthy mother PubMed: Westra 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NMD Pat71 PubMed: Westra 2019 family, 2 affected sisters, healthy mother mosaic (0.10-0.15) F - - - - - - - 2 Johan den Dunnen
?/. - c.422T>C r.(?) p.(Met141Thr) Unknown - VUS g.35685501A>G g.35685504A>G TPM2(NM_001301227.1):c.422T>C (p.M141T) - TPM2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.428T>C r.(?) p.(Leu143Pro) Unknown - likely pathogenic g.35685495A>G g.35685498A>G - - TPM2_000038 - - - - Germline - - - - - DNA SEQ - - NEM Fam35 (3143) - - F - - - - - - - 1 Minttu Marttila
+/. 4 c.433G>A r.(?) p.(Glu145Lys) Parent #1 - pathogenic g.35685490C>T g.35685493C>T - - TPM2_000061 - PubMed: Beck 2013 - - De novo - - - - - DNA SEQ - - DA 23401156-o1 PubMed: Beck 2013 - - - United States - - - - - 1 Johan den Dunnen
+/. 4 c.440A>C r.440a>c p.Gln147Pro Parent #1 - pathogenic g.35685483T>G g.35685486T>G Glu147Pro, not possible - TPM2_000001 possibly de novo (not in mother, 7 sibs); RNA muscle PubMed: Donner 2002, OMIM:var0002 - - De novo - - - - - DNA SEQ, SSCA - - NEM 11738357.1 PubMed: Donner 2002 - F - Netherlands - 51y - - - 1 Johan den Dunnen
+?/. 4 c.443T>C r.(?) p.(Leu148Pro) Unknown - likely pathogenic g.35685480A>G g.35685483A>G - - TPM2_000039 - - - - De novo - - - - - DNA SEQ - - NEM Fam37 (3653) - - F - - - - - - - 1 Minttu Marttila
+?/. - c.463G>A r.(?) p.(Ala155Thr) Unknown - likely pathogenic g.35685460C>T g.35685463C>T TPM2(NM_001301227.2):c.463G>A (p.A155T) - TPM2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.463G>A r.(?) p.(Ala155Thr) Parent #1 ACMG pathogenic (dominant) g.35685460C>T g.35685463C>T - - TPM2_000053 - PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - Germline - - - - - DNA SEQ - - DA D17-2016 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - 1 Gianina Ravenscroft
+/. - c.464C>T r.(?) p.(Ala155Val) Unknown - pathogenic g.35685459G>A g.35685462G>A - - TPM2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.464C>T r.(?) p.(Ala155Val) Unknown - likely pathogenic g.35685459G>A g.35685462G>A - - TPM2_000042 no variants in ACTA1, TPM3 PubMed: Clarke 2012, Journal: Clarke 2015 - - De novo - - - - - DNA SEQ - - CMYO4A;CFTD 22832343-Pat2 PubMed: Clarke 2012, Journal: Clarke 2015 2-generation family, 1 affected, unaffected non-carreir parents - no - white - - - - 1 Johan den Dunnen
+?/. 4 c.478C>T r.(?) p.(Arg160Cys) Unknown - likely pathogenic g.35685445G>A g.35685448G>A - - TPM2_000033 - - - - De novo - - - - - DNA PCR, SEQ - - MYOP - - - M - United States - - - - - 1 Tom Winder
-?/. - c.493G>A r.(?) p.(Val165Met) Unknown - likely benign g.35685336C>T - TPM2(NM_003289.3):c.493G>A (p.(Val165Met)) - CA9_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.530A>T r.(?) p.(Glu177Val) Unknown - likely pathogenic g.35685299T>A g.35685302T>A - - TPM2_000034 - - - - De novo - - - - - DNA PCR, SEQ - - DA - - - M - United States Hispanic - - - - 1 Tom Winder
+/. - c.541G>A r.(?) p.(Glu181Lys) Unknown ACMG pathogenic g.35685288C>T g.35685291C>T - - TPM2_000068 no variant 2nd chromosome PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - Germline - - - - - DNA SEQ - - DA D17-1613 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - 1 Gianina Ravenscroft
+?/. - c.553_561del r.(?) p.(Val185_Glu187del) Unknown - likely pathogenic g.35685271_35685279del g.35685274_35685282del - - TPM2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.559G>A r.(?) p.(Glu187Lys) Unknown - likely pathogenic g.35685270C>T g.35685273C>T TPM2(NM_003289.4):c.559G>A (p.E187K) - TPM2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.564-19dup r.(=) p.(=) Parent #1 - benign g.35684830dup g.35684833dup - - TPM2_000045 - - - rs11441526 Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.564-19dup r.(=) p.(=) Unknown - benign g.35684830dup g.35684833dup TPM2(NM_003289.4):c.564-19dupC - TPM2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 5i c.564-16dup r.(?) p.(=) Unknown - benign g.35684821dup g.35684824dup 564-19dupC - TPM2_000029 - from website {DBsub-Emory} - - Unknown - - - - - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - - - - 1 Madhuri Hegde
+/. 6 c.606C>G r.(?) p.(Asn202Lys) Parent #1 - pathogenic g.35684762G>C g.35684765G>C 845C>G - TPM2_000015 de novo, in patient PubMed: Ohlsson 2008, OMIM:var0008 - - De novo - - - - - DNA SEQ - - NEM 19047562.3 PubMed: Ohlsson 2008 - F - Sweden - - - - - 1 Johan den Dunnen
+/. - c.613A>G r.(?) p.(Lys205Glu) Parent #1 ACMG pathogenic (dominant) g.35684755T>C g.35684758T>C - - TPM2_000069 ACMG PVS1, PM2, PM3 PubMed: Natera-de Benito 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - gene or gene panel MYOP Fam52Pat58 PubMed: Natera-de Benito 2021 patient F - Spain - - - - - 1 Johan den Dunnen
+/. 6 c.628C>T r.628c>u p.Gln210* Paternal (confirmed) - pathogenic (recessive) g.35684740G>A g.35684743G>A - - TPM2_000026 mRNA level reduced to 1.5% PubMed: Monnier 2009 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ? 19155175-III12 PubMed: Monnier 2009 3-generation family, 4 affecteds M yes Algeria - - - - - 4 Johan den Dunnen
+/. 6 c.628C>T r.628c>u p.Gln210* Maternal (confirmed) - pathogenic (recessive) g.35684740G>A g.35684743G>A - - TPM2_000026 mRNA level reduced to 1.5% PubMed: Monnier 2009 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ? 19155175-III12 PubMed: Monnier 2009 3-generation family, 4 affecteds M yes Algeria - - - - - 4 Johan den Dunnen
+/. 6 c.628C>T r.628c>u p.Gln210* Parent #1 - pathogenic (recessive) g.35684740G>A g.35684743G>A - - TPM2_000026 - PubMed: Monnier 2009 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - Healthy/Control 19155175-Fam PubMed: Monnier 2009 3-generation family, 4 unaffected carrier parents and 2 sisters - yes Algeria - - - - - 6 Johan den Dunnen
-/. 6i c.639+33G>T r.(?) p.(=) Unknown - benign g.35684696C>A g.35684699C>A - - TPM2_000030 - from website {DBsub-Emory} - - Unknown - - - - - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - - - - 1 Madhuri Hegde
-/. 6i c.639+238dup r.(=) p.(=) Unknown - benign g.35684491dup - IVS6 231 8C/9C - TPM2_000021 Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Donner 2002 - - Germline - 72/172 controls - - - DNA SEQ, SSCA - - Healthy/Control - PubMed: Donner 2002 - - - - - - - - - 72 Johan den Dunnen
-/. 6i c.639+238dup r.(=) p.(=) Unknown - benign g.35684491dup - IVS6 231 8C/9C - TPM2_000021 Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Donner 2002 - - Germline - 78/172 controls - - - DNA SEQ, SSCA - - Healthy/Control - PubMed: Donner 2002 - - - - - - - - - 78 Johan den Dunnen
-/. 6i c.639+238dup r.(=) p.(=) Unknown - benign g.35684491dup - IVS6 231 8C/9C - TPM2_000021 Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Donner 2002 - - Germline - 78/172 controls - - - DNA SEQ, SSCA - - Healthy/Control - PubMed: Donner 2002 - - - - - - - - - 78 Johan den Dunnen
?/. 7 c.654_656del r.(?) p.(Glu218del) Unknown - VUS g.35684535_35684537del g.35684538_35684540del 654_656delAGA - TPM2_000017 - - - - Germline - - - - - DNA PCR, SEQ - - ? - - - - - United States - - - - - 1 Tom Winder
-/. 7 c.699G>T r.(?) p.(Lys233Asn) Unknown - benign g.35684488C>A g.35684491C>A - - TPM2_000007 - - - rs1804558 Germline - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.773-10_773-9insGC r.(=) p.(=) Unknown - likely benign g.35683248_35683249insCG - TPM2(NM_003289.4):c.773-10_773-9insGC - CA9_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.773-8C>A r.(=) p.(=) Unknown - likely benign g.35683246G>T - TPM2(NM_003289.3):c.773-8C>A (p.(=)) - CA9_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.773-5_773-3dup r.spl? p.? Unknown - benign g.35683246_35683248dup g.35683249_35683251dup TPM2(NM_001301227.2):c.773-5_773-3dupCCC - CA9_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.773-4_773-3dup r.spl? p.? Unknown - benign g.35683247_35683248dup g.35683250_35683251dup TPM2(NM_003289.3):c.773-4_773-3dupCC, TPM2(NM_003289.4):c.773-4_773-3dup, TPM2(NM_003289.4):c.773-4_773-3dupCC - TPM2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 8i c.773-4_773-3dup r.(?) p.(=) Unknown - benign g.35683247_35683248dup g.35683250_35683251dup 773-4_773-3dupCC - TPM2_000047 - from website {DBsub-Emory} - - Unknown - - - - - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - - - - 1 Madhuri Hegde
-/. - c.773-4_773-3dup r.spl? p.? Unknown - benign g.35683247_35683248dup g.35683250_35683251dup TPM2(NM_003289.3):c.773-4_773-3dupCC, TPM2(NM_003289.4):c.773-4_773-3dup, TPM2(NM_003289.4):c.773-4_773-3dupCC - TPM2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.773-4_773-3dup r.spl? p.? Unknown - likely benign g.35683247_35683248dup - TPM2(NM_003289.3):c.773-4_773-3dupCC, TPM2(NM_003289.4):c.773-4_773-3dup, TPM2(NM_003289.4):c.773-4_773-3dupCC - TPM2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.773-4_773-3insA r.spl? p.? Unknown - benign g.35683241_35683242insT g.35683244_35683245insT TPM2(NM_001301227.1):c.773-4_773-3insA, TPM2(NM_001301227.2):c.773-4_773-3insA - CA9_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.773-4_773-3insA r.spl? p.? Unknown - benign g.35683241_35683242insT - TPM2(NM_001301227.1):c.773-4_773-3insA, TPM2(NM_001301227.2):c.773-4_773-3insA - CA9_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 8i c.773-3C>A r.spl? p.? Unknown - VUS g.35683241G>T g.35683244G>T - - TPM2_000020 - - - - Germline - - - - - DNA PCR, SEQ - - DA - - - - - United States - - - - - 1 Tom Winder
-/. - c.773-3dup r.spl? p.? Unknown - benign g.35683248dup g.35683251dup TPM2(NM_001301227.2):c.773-3dupC, TPM2(NM_003289.3):c.773-3dupC, TPM2(NM_003289.4):c.773-3dupC - TPM2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.773-3dup r.spl? p.? Unknown - benign g.35683248dup g.35683251dup TPM2(NM_001301227.2):c.773-3dupC, TPM2(NM_003289.3):c.773-3dupC, TPM2(NM_003289.4):c.773-3dupC - TPM2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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