Full data view for gene TPM3

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_152263.3 transcript reference sequence.

85 entries on 1 page. Showing entries 1 - 85.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. ? c.? r.? p.? Parent #1 - pathogenic g.? - - - TPM3_000000 TPM3-ALK fusion gene/transcript PubMed: Zhang 2010 - - Somatic - - - 0 - DNA, RNA FISH, RT-PCR, SEQ - - ? - PubMed: Zhang 2010 - M - - - - 0 - - 1 Johan den Dunnen
+/. - c.-117_*6124{0} NM_002609.3:r.-469_1579::NM_153649.3:r.665_*2326 p.? Unknown - pathogenic g.154138067_qterdelins[NC_000005.9:149507614_qter] - - t(1;5)(q21.2;q33.1) TPM3_000035 - PubMed: Li 2011 - - Somatic - - - 0 - DNA, RNA RT-PCR, SEQ - - ? - PubMed: Li 2011 - - - - - - 0 - - 1 Johan den Dunnen
+/. 8i c.776_*6124{0} r._-117_775::NM_002609.3:r.1580_*1924 p.? Unknown - pathogenic g.[NC_000005.9:149507614_qter]delins154138067_pter - TPM3-PDGFRB fusion t(1;5)(q21.2;q33.1) TPM3_000000 translocation fusion TPM3 intron 8/PDGFRB intron 10 (NG_023367.1:1580-1437_1580-1436) PubMed: Li 2011 - - DUPLICATE record - - - 0 - DNA, RNA RT-PCR, SEQ - - ? - PubMed: Li 2011 - - - - - - 0 - - 1 Johan den Dunnen
+?/. 1 c.7G>C r.(?) p.(Glu3Gln) Parent #1 - likely pathogenic g.154164488C>G g.154192012C>G - - TPM3_000019 - - - - Unknown - - - 0 - DNA PCR, SEQ - - NEM - - - M - Sweden white - 0 - - 1 Tom Winder
+?/. 1 c.11C>T r.(?) p.(Ala4Val) Maternal (confirmed) - likely pathogenic g.154164484G>A g.154192008G>A - - TPM3_000013 - PubMed: Lawlor 2009 - - Germline - <1/280 - 0 - DNA PCR, SEQ - - CFTD - PubMed: Lawlor 2009 - M - (United States) - - 0 - - 1 Alan Beggs
+?/. 1 c.11C>T r.(?) p.(Ala4Val) Unknown - likely pathogenic g.154164484G>A g.154192008G>A - - TPM3_000013 - PubMed: Lawlor 2009 - - Germline - <1/280 - 0 - DNA PCR, SEQ - - CFTD - PubMed: Lawlor 2009 - F - United States - - 0 - - 1 Alan Beggs
+/. 1 c.(26T>G) r.26u>g p.Met9Arg Unknown - pathogenic (dominant) g.154164469A>C g.154191993A>C - - TPM3_000001 mouse model; TPM2 decreased, alpha/beta heterodimer formation reduced PubMed: Corbett 2004, OMIM:var0001 - - animal model - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.26T>G r.(?) p.(Met9Arg) Parent #1 - pathogenic (dominant) g.154164469A>C g.154191993A>C - - TPM3_000001 - PubMed: Laing 1995, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - NEM - PubMed: Laing 1995 large family - - Australia - - 0 - - 1 Kristen Nowak
+/. 1 c.26T>G r.(?) p.Met9Arg Unknown - NA g.154164469A>C g.154191993A>C - - TPM3_000001 adenovirus transduced rat cardiac myocytes, incorporated correctly, decreased sensitivity contraction, no direct nemaline rod formation PubMed: Michele 1999, OMIM:var0001 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.26T>G r.(?) p.Met9Arg Unknown - NA g.154164469A>C g.154191993A>C - - TPM3_000001 rat TPM3 expressed in E.coli, 30-100x reduced affinity for actin, Ca2+-sensitive regulatory function retained PubMed: Moraczewska 2000 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.26T>G r.(?) p.Met9Arg Unknown - NA g.154164469A>C g.154191993A>C - - TPM3_000001 N-terminal TPM3 fragment, circular dichroism tropomodulin binding abolished PubMed: Greenfield 2002 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.26T>G r.(?) p.Met9Arg Unknown - NA g.154164469A>C g.154191993A>C - - TPM3_000001 recombinant TPM3 (Baculovirus expression), above 100x reduced actin binding PubMed: Akkari 2002 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.26T>G r.(?) p.Met9Arg Unknown - NA g.154164469A>C g.154191993A>C - - TPM3_000001 - PubMed: Ilkovski 2008 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.43G>C r.(?) p.(Asp15His) Unknown - VUS g.154164452C>G g.154191976C>G - - TPM3_000020 - from website {DBsub-Emory} - - Unknown - - - 0 - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. - c.64C>T r.(?) p.(Arg22Trp) Unknown - VUS g.154164431G>A - - - TPM3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.65G>A r.(?) p.(Arg22Gln) Unknown - VUS g.154164430C>T g.154191954C>T - - TPM3_000042 - 0 ClinVar-RCV000551766.1 - Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? S-3955 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
-/. 1 c.92A>C r.(?) p.(Lys31Thr) Maternal (confirmed) - benign g.154164403T>G g.154191927T>G - - TPM3_000028 - - - rs62000429 Germline - - - 0 - DNA PCR, SEQ - - MYOP - - - - - United States - - 0 - - 1 Tom Winder
+/. 1 c.94C>T r.(?) p.(Gln32*) Parent #1 - pathogenic g.154164401G>A g.154191925G>A Q31X - TPM3_000002 - PubMed: Tan 1999, OMIM:var0004 - - Germline - - - 0 - DNA SSCA, SEQ - - NEM - PubMed: Tan 1999 - M - Iran - - 0 - - 1 Johan den Dunnen
+/. 1 c.94C>T r.(?) p.(Gln32*) Parent #2 - pathogenic g.154164401G>A g.154191925G>A Q31X - TPM3_000002 - PubMed: Tan 1999, OMIM:var0004 - - Germline - - - 0 - DNA SSCA, SEQ - - NEM - PubMed: Tan 1999 - M - Iran - - 0 - - 1 Johan den Dunnen
?/. - c.117+1G>A r.spl? p.? Unknown - VUS g.154164377C>T g.154191901C>T TPM3(NM_152263.2):c.117+1G>A - TPM3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.119T>G r.(?) p.(Leu40Arg) Unknown - VUS g.154163786A>C g.154191310A>C - - TPM3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.238G>C r.(?) p.(Ala80Pro) Unknown - likely pathogenic g.154163667C>G g.154191191C>G - - TPM3_000029 - - - - Germline - - - 0 - DNA PCR, SEQ - - MYOP - - - F - United States - - 0 - - 1 Tom Winder
-/. 2i c.244-5T>C r.(=) p.(=) Unknown - benign g.154148729A>G g.154176253A>G - - TPM3_000003 - PubMed: Tan 1999 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Tan 1999 - - - - - - 0 - - 1 Johan den Dunnen
-/. 3 c.249G>A r.(?) p.(=) Parent #1 - benign g.154148719C>T g.154176243C>T - - TPM3_000031 - - - - Germline - - - 0 - DNA PCR, SEQ - - MYOP - - - M - United States - - 0 - - 1 Tom Winder
+?/. 3 c.263C>T r.(?) p.(Ser88Phe) Unknown - likely pathogenic g.154148705G>A g.154176229G>A - - TPM3_000023 - - - - Germline - - - 0 - DNA SEQ - - NEM Fam3 (3363) - - M - - - - 0 - - 1 Minttu Marttila
+?/. 3 c.271C>T r.(?) p.(Arg91Cys) Unknown - likely pathogenic g.154148697G>A g.154176221G>A - - TPM3_000024 probable mosaicism - - - Unknown - - - 0 - DNA SEQ - - MYOP Fam5 (20-799) - - M - - - - 0 - - 1 Minttu Marttila
+?/. 3 c.272G>C r.(?) p.(Arg91Pro) Unknown - likely pathogenic g.154148696C>G g.154176220C>G - - TPM3_000015 de novo, in patient PubMed: Lawlor 2009 - - De novo - <1/280 - 0 - DNA PCR, SEQ - - CFTD - PubMed: Ottenheijm 2011 - F - (United States) - - 0 - - 1 Alan Beggs
+/. 3 c.298C>A r.(?) p.(Leu100Met) Parent #1 - pathogenic (dominant) g.154148670G>T g.154176194G>T - - TPM3_000007 not in 200 control chromosomes PubMed: Clarke 2008, OMIM:var0007 - - Germline - - - 0 - DNA SEQ - - CFTD 18300303.F4 PubMed: Clarke 2008 3 generation family, 4 affecteds - - - - - 0 - - 4 Johan den Dunnen
?/. 3 c.298C>G r.(?) p.(Leu100Val) Unknown - VUS g.154148670G>C g.154176194G>C - - TPM3_000025 - - - - Germline - - - 0 - DNA SEQ - - CFTD Fam7 - affected mother/daughter F - - - - 0 - - 2 Minttu Marttila
-/. 3 c.327T>G r.(?) p.(=) Unknown - benign g.154148641A>C g.154176165A>C - - TPM3_000030 - - - - Germline - - - 0 - DNA PCR, SEQ - - MYOP - - - F - United States - - 0 - - 1 Tom Winder
?/. - c.445C>A r.(=) p.(Leu149Ile) Parent #1 - VUS g.154145610G>T g.154173134G>T - - TPM3_000033 PolyPhen-2: PSIC: 0.991 (probably damaging) - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
+?/. 4 c.452A>C r.(?) p.(Glu151Ala) Unknown - likely pathogenic g.154145603T>G g.154173127T>G - - TPM3_000026 - - - - De novo - - - 0 - DNA SEQ - - MYOP Fam8 (20-607) - - F - - - - 0 - - 1 Minttu Marttila
+?/. 4 c.456_458dup r.(?) p.(Ala152_Lys153insAsn) Parent #1 - likely pathogenic g.154145597_154145599dup g.154173121_154173123dup - - TPM3_000018 - - - - De novo - - - 0 - DNA PCR, SEQ - - CFTD - - - M - United States - - 0 - - 1 Tom Winder
+?/. 4 c.456_458dup r.(?) p.(Ala152_Lys153insAsn) Parent #1 - likely pathogenic g.154145597_154145599dup g.154173121_154173123dup - - TPM3_000018 - - - - Germline - - - 0 - DNA SEQ-NG - - CFTD - - - F - United States - - 0 - - 1 Tom Winder
+/. 4 c.466G>A r.(?) p.(Ala156Thr) Parent #1 - pathogenic g.154145589C>T g.154173113C>T - - TPM3_000016 not in 218 control chromosomes PubMed: Kiphuth 2010 - - Unknown - - - 0 - DNA SEQ - - NEM 20012312-Cas1 PubMed: Kiphuth 2010 sister died from sudden cardiac arrest 27y, 5 other siblings lack any neuromuscular symptoms F no Germany - >57y 0 - - 1 Johan den Dunnen
+/. 4 c.466G>A r.(?) p.(Ala156Thr) Maternal (confirmed) - pathogenic (dominant) g.154145589C>T g.154173113C>T - - TPM3_000016 not in 218 control chromosomes PubMed: Kiphuth 2010 - - Germline - - - 0 - DNA SEQ - - NEM 20012312-Cas2 PubMed: Kiphuth 2010 daugther of 20012312-Cas1 F no Germany - - 0 - - 1 Johan den Dunnen
+/. 5 c.502C>G r.(?) p.(Arg168Gly) Parent #1 - pathogenic g.154145448G>C g.154172972G>C - - TPM3_000008 not in 200 control chromosomes; de novo PubMed: Clarke 2008, OMIM:var0008 - - De novo - - - 0 - DNA SEQ - - CFTD 18300303.F3 PubMed: Clarke 2008 - - - - - - 0 - - 1 Johan den Dunnen
+?/. - c.502C>G r.(?) p.(Arg168Gly) Parent #1 - likely pathogenic (recessive) g.154145448G>C g.154172972G>C - - TPM3_000008 - PubMed: Punetha 2016 - - Germline/De novo (untested) - 1/94 cases - 0 - DNA SEQ, SEQ-NG - gene panel CFTD Pat31 PubMed: Punetha 2016 analysis 94 myopathy cases - - - - - 0 - - 1 Johan den Dunnen
+/. - c.502C>G r.(?) p.(Arg168Gly) Unknown - pathogenic g.154145448G>C - TPM3(NM_152263.2):c.502C>G (p.R168G) - TPM3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.502C>T r.(?) p.(Arg168Cys) Unknown - pathogenic g.154145448G>A g.154172972G>A - - TPM3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 5 c.502C>T r.(?) p.(Arg168Cys) Unknown - likely pathogenic g.154145448G>A g.154172972G>A - - TPM3_000009 - - - - Germline - - - 0 - DNA PCR, SEQ - - MYOP - - - - - Canada French-Canadian - 0 - - 1 Tom Winder
+/. 5 c.502C>T r.(?) p.(Arg168Cys) Unknown - pathogenic g.154145448G>A g.154172972G>A - - TPM3_000009 - - - - Germline - - - 0 - DNA PCR, SEQ - - MYOP - - - F - United States - - 0 - - 1 Tom Winder
+/. 5 c.502C>T r.(?) p.(Arg168Cys) Unknown - pathogenic g.154145448G>A g.154172972G>A - - TPM3_000009 - - - - Germline - - - 0 - DNA PCR, SEQ - - CFTD - - - F - United States - - 0 - - 1 Tom Winder
+/. 5 c.502C>T r.(?) p.(Arg168Cys) Parent #1 - pathogenic g.154145448G>A g.154172972G>A - - TPM3_000009 - - - - Germline - - - 0 - DNA SEQ-NG - - MYOP - - - F - United States - - 0 - - 1 Tom Winder
+/. 5 c.502C>T r.(?) p.(Arg168Cys) Parent #1 - pathogenic g.154145448G>A g.154172972G>A - - TPM3_000009 not in 200 control chromosomes; de novo, in patient PubMed: Clarke 2008, OMIM:var0009 - - De novo - - - 0 - DNA SEQ - - CFTD 18300303.F5 PubMed: Clarke 2008 - - - - - - 0 - - 1 Johan den Dunnen
+/. 5 c.502C>T r.(?) p.(Arg168Cys) Parent #1 - pathogenic g.154145448G>A g.154172972G>A - - TPM3_000009 not in 200 control chromosomes; de novo, in patient PubMed: Ohlsson 2009, OMIM:var0009 - - De novo - - - 0 - DNA SEQ - - MYOP 19487656-Pat1 PubMed: Ohlsson 2009, OMIM:var0009 heatly, unaffectd parents and sibling F no - - >38y 0 - - 1 Johan den Dunnen
+/. 5 c.502C>T r.(?) p.(Arg168Cys) Parent #1 - pathogenic g.154145448G>A g.154172972G>A - - TPM3_000009 - PubMed: Tominaga 2010 - - Unknown - - - 0 - DNA SEQ - - CFTD 20179953-PatTPM3-1 PubMed: Tominaga 2010 - - - Japan - - 0 - - 1 Johan den Dunnen
+/. 5 c.502C>T r.(?) p.(Arg168Cys) Parent #1 - pathogenic g.154145448G>A g.154172972G>A - - TPM3_000009 - PubMed: Tominaga 2010 - - Unknown - - - 0 - DNA SEQ - - CFTD 20179953-PatTPM3-2 PubMed: Tominaga 2010 - - - Japan - - 0 - - 1 Johan den Dunnen
+/. 5 c.502C>T r.(?) p.(Arg168Cys) Parent #1 - pathogenic g.154145448G>A g.154172972G>A - - TPM3_000009 not in 200 control chromosomes; de novo, in patient PubMed: Waddle 2010 - - De novo - - - 0 - DNA SEQ - - MYOP 20554445-Pat1 PubMed: Waddle 2010 - M - Australia - >37y 0 - - 1 Johan den Dunnen
+?/. - c.502C>T r.(?) p.(Arg168Cys) Parent #1 - likely pathogenic (dominant) g.154145448G>A g.154172972G>A - - TPM3_000009 - PubMed: Park 2017 - - Germline - 1/209 cases - 0 - DNA SEQ, SEQ-NG - 69-gene panel muscular disorder MD Pat98 PubMed: Park 2017 - F - Korea - - 0 - - 1 Johan den Dunnen
+/. 5 c.503G>A r.(?) p.(Arg168His) Parent #1 - pathogenic g.154145447C>T g.154172971C>T - - TPM3_000006 not in 200 control chromosome; ACTA1 normal; de novo, in patient PubMed: Durling 2002 - - De novo - - - 0 - DNA SEQ - - NEM - PubMed: Durling 2002 - F - Germany - - 0 - - 1 Johan den Dunnen
+/. 5 c.503G>A r.(?) p.(Arg168His) Parent #1 - pathogenic g.154145447C>T g.154172971C>T - - TPM3_000006 not in 200 control chromosome; ACTA1, TPM2 normal PubMed: Pennisson-Besnier 2007, OMIM:var0005 - - Germline - - - 0 - DNA SEQ - - NEM - PubMed: Pennisson-Besnier 2007, OMIM:var0005 4 generation family; 8 affecteds - - - - - 0 - - 8 Johan den Dunnen
+?/. 5 c.503G>A r.(?) p.(Arg168His) Unknown - likely pathogenic g.154145447C>T g.154172971C>T - - TPM3_000006 - - - - Germline - - - 0 - DNA SEQ - - NEM - - - F - United Kingdom (Great Britain) - - 0 - - 1 Tom Winder
+/. 5 c.503G>A r.(?) p.(Arg168His) Unknown - pathogenic g.154145447C>T g.154172971C>T - - TPM3_000006 - - - - Germline - - - 0 - DNA PCR, SEQ - - CFTD - - - F - United States white - 0 - - 1 Tom Winder
+/. 5 c.503G>A r.(0) p.(Arg168His) Parent #1 - pathogenic g.154145447C>T g.154172971C>T - - TPM3_000006 - - - - Germline - - - 0 - DNA SEQ-NG - - NEM - - - F - United States - - 0 - - 1 Tom Winder
+?/. 5 c.503G>A r.(?) p.(Arg168His) Unknown - likely pathogenic g.154145447C>T g.154172971C>T - - TPM3_000006 de novo, in patient PubMed: Lawlor 2009 - - De novo - <1/200 - 0 - DNA PCR, SEQ - - CFTD - PubMed: Lawlor 2009 - F - United Kingdom (Great Britain) - - 0 - - 1 Alan Beggs
+?/. 5 c.503G>A r.(?) p.(Arg168His) Unknown - likely pathogenic g.154145447C>T g.154172971C>T - - TPM3_000006 de novo, in patient PubMed: Lawlor 2009 - - De novo - <1/200 - 0 - DNA PCR, SEQ - - NEM - PubMed: Ottenheijm 2011 - M - United States - 66y 0 - - 1 Alan Beggs
+/. 5 c.503G>A r.(?) p.(Arg168His) Parent #1 - pathogenic (dominant) g.154145447C>T g.154172971C>T - - TPM3_000006 not in 200 control chromosomes PubMed: Clarke 2008, OMIM:var0005 - - Germline - - - 0 - DNA SEQ - - CFTD 18300303.c PubMed: Clarke 2008 3 generation family, 4 affecteds - - Martinique - - 0 - - 4 Johan den Dunnen
+/. 5 c.503G>A r.(?) p.(arg168His) Unknown - pathogenic g.154145447C>T g.154172971C>T - - TPM3_000006 de novo, in patient PubMed: de Paula 2009, OMIM:var0005 - - De novo - - - 0 - DNA SEQ - - MYOP 19553118.P1 (PMID19553118:dePaula 2009} parents unaffected M - France white >42y 0 - - 1 Johan den Dunnen
+/. 5 c.503G>A r.(?) p.(Arg168His) Parent #1 - pathogenic g.154145447C>T g.154172971C>T - - TPM3_000006 no variants in CHRNE, DOK7, FBN1, MTM1, DM1, RYR1, SEPN1, ACTA1, RAPSN PubMed: Munot 2010 - - Germline - - - 0 - DNA SEQ - - CFTD 20951040-Cas1 PubMed: Munot 2010 - F no United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+?/. - c.503G>A r.(?) p.(Arg168His) Unknown - likely pathogenic g.154145447C>T g.154172971C>T - - TPM3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.505A>G r.(?) p.(Lys169Glu) Parent #1 - pathogenic g.154145445T>C g.154172969T>C - - TPM3_000010 not in 200 control chromosomes; de novo, in patient PubMed: Clarke 2008 - - De novo - - - 0 - DNA SEQ - - CFTD 18300303.F2 PubMed: Clarke 2008 - - - - - - 0 - - 1 Johan den Dunnen
+/. 5 c.521A>C r.(?) p.(Glu174Ala) Parent #1 - pathogenic g.154145429T>G g.154172953T>G - - TPM3_000017 probably de novo PubMed: Munot 2010 - - Unknown - - - 0 - DNA SEQ - - CFTD 20951040-Cas2 PubMed: Munot 2010 - M no United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 4 c.535C>G r.(?) p.(Arg179Gly) Both (homozygous) - pathogenic (recessive) g.154145415G>C g.154172939G>C - - TPM3_000036 - - - - Germline yes - - 0 - DNA SEQ-NG - - CFTD - - - F yes Brazil - - 0 - - 1 Cristiane Moreno
?/. - c.567-98_567-97dup r.(=) p.(=) Parent #1 - VUS g.154144067_154144068dup g.154171591_154171592dup - - TPM3_000032 - - - rs5777891 Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
?/. 6i c.642+4G>T r.spl? p.? Unknown - VUS g.154143885C>A g.154171409C>A - - TPM3_000021 - from website {DBsub-Emory} - - Unknown - - - 0 - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 8 c.709G>A r.(?) p.(Glu237Lys) Unknown - VUS g.154142942C>T g.154170466C>T NM_001278191.1:n.574G>A - TPM3_000041 - - - - Germline yes ExAc no frequency - 0 - DNA SEQ-NG-I saliva 122 gene NGS panel Invitae MYOP PatMyo144 - sporadic case M no Chile Spain, Catalunya - 0 yes - 1 JA Bevilacqua
+?/. 8 c.721G>A r.(?) p.(Glu241Lys) Unknown - likely pathogenic g.154142930C>T g.154170454C>T - - TPM3_000014 de novo, in patient PubMed: Lawlor 2009 - - De novo - <1/280 - 0 - DNA PCR, SEQ - - CFTD - PubMed: Ottenheijm 2011 - F - (United States) - - 0 - - 1 Alan Beggs
+/. 8 c.733A>G r.(?) p.(Arg245Gly) Parent #1 - pathogenic g.154142918T>C g.154170442T>C - - TPM3_000011 not in 200 control chromosomes; de novo, in patient PubMed: Clarke 2008 - - De novo - - - 0 - DNA SEQ - - CFTD 18300303.F1 PubMed: Clarke 2008 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.737C>T r.(?) p.(Ser246Leu) Unknown - VUS g.154142914G>A - TPM3(NM_152263.2):c.737C>T (p.S246L) - TPM3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 8 c.758C>A r.(?) p.(Thr253Lys) Unknown - VUS g.154142893G>T g.154170417G>T - - TPM3_000027 - - - - De novo - - - 0 - DNA SEQ - - MYOP Fam 29 (20-872) - - F - - - - 0 - - 1 Minttu Marttila
-/. - c.776-49T>C r.(=) p.(=) Parent #1 - benign g.154141908A>G g.154169432A>G - - TPM3_000022 - - - rs4845364 Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
-/. 8i c.776-49T>C r.(?) p.(=) Unknown - benign g.154141908A>G g.154169432A>G - - TPM3_000022 - from website {DBsub-Emory} - - Unknown - - - 0 - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 9i c.855-1G>A r.855_*6123delins*10216_*12633 p.= Maternal (confirmed) - pathogenic g.154140417C>T g.154167941C>T 855-1G>A - TPM3_000004 not in 218 control chromosomes; RNA muscle, reduced efficiency PubMed: Wattanasirichaigoon 2002, OMIM:var0003 - - Germline - - - 0 - DNA SEQ - - NEM - PubMed: Ottenheijm 2011 - - - United States - - 0 - - 2 Johan den Dunnen
+/. 10 c.855del r.(?) p.(*286Asnext*74) Paternal (confirmed) - pathogenic g.154140416del g.154167940del 913delA - TPM3_000012 - PubMed: Lehtokari 2008, OMIM:var0006 - - Germline - - - 0 - DNA SEQ - - NEM 18382475.F1 PubMed: Lehtokari 2008, OMIM:var0006 2 affected brothers; parents from same village - - Turkey - - 0 - - 2 Johan den Dunnen
+/. 10 c.855del r.(?) p.(*286Asnext*74) Maternal (confirmed) - pathogenic g.154140416del g.154167940del 913delA - TPM3_000012 - PubMed: Lehtokari 2008, OMIM:var0006 - - Germline - - - 0 - DNA SEQ - - NEM 18382475.F1 PubMed: Lehtokari 2008, OMIM:var0006 2 affected brothers; parents from same village - - Turkey - - 0 - - 2 Johan den Dunnen
+/. 10 c.855del r.(?) p.(*286Asnext*74) Paternal (confirmed) - pathogenic g.154140416del g.154167940del 913delA - TPM3_000012 - PubMed: Lehtokari 2008, OMIM:var0006 - - Germline - - - 0 - DNA SEQ - - NEM 18382475.F2a PubMed: Lehtokari 2008, OMIM:var0006 sister of 18382475.F2b ; 2nd cousin parents F - Turkey - - 0 - - 1 Johan den Dunnen
+/. 10 c.855del r.(?) p.(*286Asnext*74) Maternal (confirmed) - pathogenic g.154140416del g.154167940del 913delA - TPM3_000012 - PubMed: Lehtokari 2008, OMIM:var0006 - - Germline - - - 0 - DNA SEQ - - NEM 18382475.F2a PubMed: Lehtokari 2008, OMIM:var0006 sister of 18382475.F2b ; 2nd cousin parents F - Turkey - - 0 - - 1 Johan den Dunnen
+/. 10 c.855del r.855del p.*286Asnext*74 Paternal (confirmed) - pathogenic g.154140416del g.154167940del 913delA - TPM3_000012 not in 240 control chromosomes; RNA muscle PubMed: Lehtokari 2008, OMIM:var0006 - - Germline - - - 0 - RNA, DNA RT-PCR, SEQ - - NEM 18382475.F2b PubMed: Lehtokari 2008, OMIM:var0006 brother of 18382475.F2a ; 2nd cousin parents M - Turkey - - 0 - - 1 Johan den Dunnen
+/. 10 c.855del r.855del p.*286Asnext*74 Maternal (confirmed) - pathogenic g.154140416del g.154167940del 913delA - TPM3_000012 not in 240 control chromosomes; RNA muscle PubMed: Lehtokari 2008, OMIM:var0006 - - Germline - - - 0 - RNA, DNA RT-PCR, SEQ - - NEM 18382475.F2b PubMed: Lehtokari 2008, OMIM:var0006 brother of 18382475.F2a ; 2nd cousin parents M - Turkey - - 0 - - 1 Johan den Dunnen
+/. 10 c.857A>C r.(?) p.(*286Serext*?) Paternal (confirmed) - pathogenic g.154140414T>G g.154167938T>G 915A>C - TPM3_000005 not in 218 control chromosomes PubMed: Wattanasirichaigoon 2002, OMIM:var0002 - - Germline - - - 0 - DNA SEQ - - NEM - PubMed: Ottenheijm 2011 - - - United States - - 0 - - 2 Johan den Dunnen
+/. 10 c.857A>C r.(?) p.(*286Serext*?) Paternal (inferred) - pathogenic (recessive) g.154140414T>G g.154167938T>G - - TPM3_000005 - - - - Germline - - - 0 - DNA PCR, SEQ - - MYOP - - - F yes United States Hispanic - 0 - - 1 Tom Winder
+/. 10 c.857A>C r.(?) p.(*286Serext*?) Maternal (inferred) - pathogenic (recessive) g.154140414T>G g.154167938T>G - - TPM3_000005 - - - - Germline - - - 0 - DNA PCR, SEQ - - MYOP - - - F yes United States Hispanic - 0 - - 1 Tom Winder
+?/. 10 c.857A>C r.(?) p.(*286Serext*?) Paternal (inferred) - likely pathogenic g.154140414T>G g.154167938T>G - - TPM3_000005 - PubMed: Lawlor 2009 - - Germline - <1/280 - 0 - DNA PCR, SEQ - - CFTD - PubMed: Ottenheijm 2011 consanguinity 3 generations removed, unaffected carrier relatives F yes (United States) Mexico >9y6m 0 - - 1 Alan Beggs
+?/. 10 c.857A>C r.(?) p.(*286Serext*?) Maternal (inferred) - likely pathogenic g.154140414T>G g.154167938T>G - - TPM3_000005 - PubMed: Lawlor 2009 - - Germline - <1/280 - 0 - DNA PCR, SEQ - - CFTD - PubMed: Ottenheijm 2011 consanguinity 3 generations removed, unaffected carrier relatives F yes (United States) Mexico >9y6m 0 - - 1 Alan Beggs
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