Full data view for gene TPM1

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_001018005.1 transcript reference sequence.

251 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-44_-4del likely benign r.(?) p.(=) Unknown g.63334985_63335025del - - - TPM1_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-13C>T benign r.(?) p.(=) Unknown g.63335016C>T - TPM1(NM_001018004.2):c.-13C>T - TPM1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-7C>A likely benign r.(?) p.(=) Unknown g.63335022C>A - - - TPM1_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.22A>G likely pathogenic r.(?) p.(Met8Val) Unknown g.63335050A>G - - - chr15_005102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.27G>A likely benign r.(?) p.(=) Unknown g.63335055G>A - - - TPM1_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.43A>G VUS r.(?) p.(Lys15Glu) Unknown g.63335071A>G - TPM1(NM_001018004.1):c.43A>G (p.K15E) - chr15_005103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.45G>T likely pathogenic r.(?) p.(Lys15Asn) Parent #1 g.63335073G>T - G3244T - TPM1_000023 segregates (3) PubMed: Hershberger 2010 - - Germline - - - 0 - DNA SEQ - - CMD 20215591-PatC2 PubMed: Hershberger 2010 - - - United States - - 0 - - 3 Johan den Dunnen
+/. 1 c.61C>G pathogenic r.(?) p.(Arg21Gly) Parent #1 g.63335089C>G - 61G>C (Arg21His) - TPM1_000031 reported variant description not possible; not in 192 control chromosomes PubMed: Fokstuen 2011 - - Germline - 1/122 cases - 0 - DNA arraySNP - - CMH 21239446? PubMed: Fokstuen 2011 - - - - - - 0 - - 1 Johan den Dunnen
+?/. - c.64G>A likely pathogenic r.(?) p.(Ala22Thr) Unknown g.63335092G>A - TPM1(NM_001018004.2):c.64G>A (p.A22T) - TPM1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 1 c.67G>C likely pathogenic r.(?) p.(Glu23Gln) Parent #1 g.63335095G>C - G3266C - TPM1_000024 - PubMed: Hershberger 2010 - - Germline - - - 0 - DNA SEQ - - CMD 20215591-PatC3 PubMed: Hershberger 2010 - - - United States - - 0 - - 1 Johan den Dunnen
?/. - c.82G>A VUS r.(?) p.(Asp28Asn) Unknown g.63335110G>A - TPM1(NM_001018004.1):c.82G>A (p.D28N) - TPM1_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.82G>A VUS r.(?) p.(Asp28Asn) Unknown g.63335110G>A - TPM1(NM_001018004.1):c.82G>A (p.D28N) - TPM1_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.97G>A VUS r.(?) p.(Glu33Lys) Unknown g.63335125G>A - TPM1(NM_001018004.2):c.97G>A (p.E33K) - TPM1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.105G>C - r.(?) p.(Arg35Ser) Unknown g.63335133G>C g.63042934G>C - - TPM1_000046 - PubMed: Sahlin 2019, Journal: Sahlin 2019 - - Germline ? - - 0 - DNA SEQ-NG - HaloPlex gene panel (70 heart genes) ? 108 PubMed: Sahlin 2019, Journal: Sahlin 2019 stillbirth cohort (290 cases from Sweden) F - Sweden - 0 - - - 1 Ellika Sahlin
+/. 1 c.109A>G pathogenic (dominant) r.(?) p.(Lys37Glu) Maternal (confirmed) g.63335137A>G - - - TPM1_000028 not in 400 control chromosomes PubMed: Chang 2011 - - Germline - - - 0 - DNA SEQ - - LVNC 20965760-Fam1III3 PubMed: Chang 2011 3-generation family, 7 affecteds (sister, mother, aunt, grandmother+2 suisters) M - Japan - - 0 - - 7 Johan den Dunnen
-/. - c.114+14C>T benign r.(=) p.(=) Unknown g.63335156C>T - TPM1(NM_000366.5):c.114+14C>T, TPM1(NM_001018004.1):c.114+14C>T, TPM1(NM_001018004.2):c.114+14C>T, TPM1(NM_001018005.1):c.114+14C>T - TPM1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.114+14C>T likely benign r.(=) p.(=) Unknown g.63335156C>T - TPM1(NM_000366.5):c.114+14C>T, TPM1(NM_001018004.1):c.114+14C>T, TPM1(NM_001018004.2):c.114+14C>T, TPM1(NM_001018005.1):c.114+14C>T - TPM1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.114+14C>T likely benign r.(=) p.(=) Unknown g.63335156C>T - TPM1(NM_000366.5):c.114+14C>T, TPM1(NM_001018004.1):c.114+14C>T, TPM1(NM_001018004.2):c.114+14C>T, TPM1(NM_001018005.1):c.114+14C>T - TPM1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.114+14C>T benign r.(=) p.(=) Unknown g.63335156C>T - TPM1(NM_000366.5):c.114+14C>T, TPM1(NM_001018004.1):c.114+14C>T, TPM1(NM_001018004.2):c.114+14C>T, TPM1(NM_001018005.1):c.114+14C>T - TPM1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.114+14C>T likely benign r.(=) p.(=) Unknown g.63335156C>T - TPM1(NM_000366.5):c.114+14C>T, TPM1(NM_001018004.1):c.114+14C>T, TPM1(NM_001018004.2):c.114+14C>T, TPM1(NM_001018005.1):c.114+14C>T - TPM1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.114+91G>A benign r.(=) p.(=) Unknown g.63335233G>A - - - TPM1_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.115-319C>G benign r.(=) p.(=) Unknown g.63335907C>G - TPM1(NM_001018007.1):c.117C>G (p.(=)), TPM1(NM_001018007.2):c.117C>G (p.L39=), TPM1(NM_001018020.1):c.117C>G (p.L39=) - TPM1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.115-319C>G benign r.(=) p.(=) Unknown g.63335907C>G - TPM1(NM_001018007.1):c.117C>G (p.(=)), TPM1(NM_001018007.2):c.117C>G (p.L39=), TPM1(NM_001018020.1):c.117C>G (p.L39=) - TPM1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.115-319C>G VUS r.(=) p.(=) Unknown g.63335907C>G - TPM1(NM_001018007.1):c.117C>G (p.(=)), TPM1(NM_001018007.2):c.117C>G (p.L39=), TPM1(NM_001018020.1):c.117C>G (p.L39=) - TPM1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.115-316G>A likely benign r.(=) p.(=) Unknown g.63335910G>A - TPM1(NM_001018007.1):c.120G>A (p.E40=), TPM1(NM_001018007.2):c.120G>A (p.E40=), TPM1(NM_001018020.1):c.120G>A (p.E40=) - TPM1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.115-316G>A benign r.(=) p.(=) Unknown g.63335910G>A - TPM1(NM_001018007.1):c.120G>A (p.E40=), TPM1(NM_001018007.2):c.120G>A (p.E40=), TPM1(NM_001018020.1):c.120G>A (p.E40=) - TPM1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.115-316G>A likely benign r.(=) p.(=) Unknown g.63335910G>A - TPM1(NM_001018007.1):c.120G>A (p.E40=), TPM1(NM_001018007.2):c.120G>A (p.E40=), TPM1(NM_001018020.1):c.120G>A (p.E40=) - TPM1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.115-316G>A likely benign r.(=) p.(=) Unknown g.63335910G>A - TPM1(NM_001018007.1):c.120G>A (p.E40=), TPM1(NM_001018007.2):c.120G>A (p.E40=), TPM1(NM_001018020.1):c.120G>A (p.E40=) - TPM1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.115-288C>G likely benign r.(=) p.(=) Unknown g.63335938C>G - - - TPM1_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.115-278C>T VUS r.(=) p.(=) Unknown g.63335948C>T - TPM1(NM_001018020.1):c.158C>T (p.S53L) - TPM1_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.115-277G>A benign r.(=) p.(=) Unknown g.63335949G>A - TPM1(NM_001018007.2):c.159G>A (p.S53=) - TPM1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.115-277G>A likely benign r.(=) p.(=) Unknown g.63335949G>A - TPM1(NM_001018007.2):c.159G>A (p.S53=) - TPM1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.115-262C>T benign r.(=) p.(=) Unknown g.63335964C>T - TPM1(NM_001018007.2):c.174C>T (p.D58=) - TPM1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.115-235G>A benign r.(=) p.(=) Unknown g.63335991G>A - TPM1(NM_001018007.2):c.201G>A (p.A67=) - TPM1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.115-233A>T VUS r.(=) p.(=) Unknown g.63335993A>T - - - TPM1_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.115-207G>A likely benign r.(=) p.(=) Unknown g.63336019G>A - - - TPM1_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.115-189G>T benign r.(=) p.(=) Unknown g.63336037G>T - TPM1(NM_001018004.2):c.115-189G>T - TPM1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.115-184G>A benign r.(=) p.(=) Unknown g.63336042G>A - TPM1(NM_001018004.2):c.115-184G>A - TPM1_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.115-32del benign r.(=) p.(=) Unknown g.63336194del - TPM1(NM_001018005.1):c.115-32delC - TPM1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.115-14T>A VUS r.(=) p.(=) Unknown g.63336212T>A - TPM1(NM_001018004.1):c.115-14T>A - TPM1_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.118G>A pathogenic r.(?) p.(Glu40Lys) Parent #1 g.63336229G>A - - - TPM1_000001 - PubMed: Olson, OMIM:var0005 - - Germline - - - 0 - DNA SEQ - - CMD - PubMed: Olson - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.120A>G likely benign r.(?) p.(=) Unknown g.63336231A>G - - - TPM1_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.160G>A pathogenic r.(?) p.(Glu54Lys) Parent #1 g.63336271G>A - - - TPM1_000002 - PubMed: Olson, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - CMD - PubMed: Olson - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.169C>G VUS r.(?) p.(Leu57Val) Unknown g.63336280C>G - TPM1(NM_001018004.1):c.169C>G (p.L57V) - TPM1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.172G>C pathogenic r.(?) p.(Asp58His) Parent #1 g.63336283G>C - - - TPM1_000003 not in 400 control chromosomes PubMed: Frisso 2009 - - Germline - - - 0 - DNA SEQ - - CMH 19659763-Pat28.1 PubMed: Frissso 2009 - F - - - - 0 - - 1 Johan den Dunnen
-/. - c.177A>G benign r.(?) p.(=) Unknown g.63336288A>G - TPM1(NM_001018004.2):c.177A>G (p.K59=) - TPM1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.180C>T benign r.(?) p.(=) Unknown g.63336291C>T - TPM1(NM_001018004.1):c.180C>T (p.Y60=), TPM1(NM_001018004.2):c.180C>T (p.Y60=), TPM1(NM_001018005.1):c.180C>T (p.Y60=) - TPM1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.180C>T likely benign r.(?) p.(=) Unknown g.63336291C>T - TPM1(NM_001018004.1):c.180C>T (p.Y60=), TPM1(NM_001018004.2):c.180C>T (p.Y60=), TPM1(NM_001018005.1):c.180C>T (p.Y60=) - TPM1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.180C>T benign r.(?) p.(=) Unknown g.63336291C>T - TPM1(NM_001018004.1):c.180C>T (p.Y60=), TPM1(NM_001018004.2):c.180C>T (p.Y60=), TPM1(NM_001018005.1):c.180C>T (p.Y60=) - TPM1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.180C>T benign r.(?) p.(=) Unknown g.63336291C>T - TPM1(NM_001018004.1):c.180C>T (p.Y60=), TPM1(NM_001018004.2):c.180C>T (p.Y60=), TPM1(NM_001018005.1):c.180C>T (p.Y60=) - TPM1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.184G>C pathogenic r.(?) p.(Glu62Gln) Unknown g.63336295G>C - TPM1(NM_001018004.1):c.184G>C (p.E62Q), TPM1(NM_001018004.2):c.184G>C (p.E62Q), TPM1(NM_001018005.1):c.184G>C (p.E62Q) - TPM1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.184G>C pathogenic r.(?) p.(Glu62Gln) Unknown g.63336295G>C - TPM1(NM_001018004.1):c.184G>C (p.E62Q), TPM1(NM_001018004.2):c.184G>C (p.E62Q), TPM1(NM_001018005.1):c.184G>C (p.E62Q) - TPM1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.184G>C pathogenic r.(?) p.(Glu62Gln) Parent #1 g.63336295G>C - - - TPM1_000004 net charge subsitution 1 to 0; occurs at the fposition of the TPM1 heptad repeat PubMed: Jongbloed - - Germline - - - 0 - DNA SEQ - - CMH - PubMed: Jongbloed - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.184G>C pathogenic r.(?) p.(Glu62Gln) Unknown g.63336295G>C - TPM1(NM_001018004.1):c.184G>C (p.E62Q), TPM1(NM_001018004.2):c.184G>C (p.E62Q), TPM1(NM_001018005.1):c.184G>C (p.E62Q) - TPM1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.184G>C pathogenic r.(?) p.(Glu62Gln) Unknown g.63336295G>C - TPM1(NM_001018004.1):c.184G>C (p.E62Q), TPM1(NM_001018004.2):c.184G>C (p.E62Q), TPM1(NM_001018005.1):c.184G>C (p.E62Q) - TPM1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.188C>T pathogenic r.(?) p.(Ala63Val) Parent #1 g.63336299C>T - - - TPM1_000005 neutral charge substitution PubMed: NakajimaTaniguchi, PubMed: YamauchiTakihara - - Germline - - - 0 - DNA SEQ - - CMH - PubMed: NakajimaTaniguchi, PubMed: YamauchiTakihara - - - - - - 0 - - 1 Johan den Dunnen
+/. 2 c.209A>C pathogenic r.(?) p.(Lys70Thr) Parent #1 g.63336320A>C - - - TPM1_000006 net charge substitution +1 to 0 PubMed: YamauchiTakihara - - Germline - - - 0 - DNA SEQ - - CMH - PubMed: YamauchiTakihara - - - - - - 0 - - 1 Johan den Dunnen
+/. 2 c.209A>C pathogenic r.(?) p.(Lys70Thr) Parent #1 g.63336320A>C - - - TPM1_000006 - PubMed: Heller - - Germline - - - 0 - DNA SEQ - - CMH - PubMed: Heller - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.235A>G VUS r.(?) p.(Thr79Ala) Unknown g.63336346A>G - TPM1(NM_001018005.1):c.235A>G (p.T79A) - TPM1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.240+21C>T benign r.(=) p.(=) Unknown g.63336372C>T - TPM1(NM_001018005.1):c.240+21C>T - TPM1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.240+21C>T benign r.(=) p.(=) Unknown g.63336372C>T - TPM1(NM_001018005.1):c.240+21C>T - TPM1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.240+4296A>G benign r.(=) p.(=) Unknown g.63340647A>G - TPM1(NM_001018008.1):c.-128A>G - TPM1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.240+4296A>G VUS r.(=) p.(=) Unknown g.63340647A>G - TPM1(NM_001018008.1):c.-128A>G - TPM1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.240+4354C>T benign r.(=) p.(=) Unknown g.63340705C>T - TPM1(NM_001018008.1):c.-70C>T - TPM1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.240+4424A>T VUS r.(=) p.(=) Unknown g.63340775A>T - TPM1(NM_001301289.1):c.1A>T (p.M1?) - TPM1_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.240+4449C>T VUS r.(=) p.(=) Unknown g.63340800C>T - - - TPM1_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.240+4465C>G likely benign r.(=) p.(=) Unknown g.63340816C>G - TPM1(NM_001018008.1):c.42C>G (p.I14M) - TPM1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.240+4465C>G likely benign r.(=) p.(=) Unknown g.63340816C>G - TPM1(NM_001018008.1):c.42C>G (p.I14M) - TPM1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i c.240+4470G>T pathogenic r.(?) p.(Ser81-29Ile) Parent #1 g.63340821G>T - G8992T (Ser16Ile) - TPM1_000025 - PubMed: Hershberger 2010 - - Germline - - - 0 - DNA SEQ - - CMD 20215591-PatC4 PubMed: Hershberger 2010 - - - United States - - 0 - - 1 Johan den Dunnen
?/. - c.240+4498G>T VUS r.(=) p.(=) Unknown g.63340849G>T - TPM1(NM_001301289.1):c.75G>T (p.E25D) - TPM1_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.240+4498G>T VUS r.(=) p.(=) Unknown g.63340849G>T - TPM1(NM_001301289.1):c.75G>T (p.E25D) - TPM1_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.240+4505_240+4506delinsTT likely benign r.(=) p.(=) Unknown g.63340856_63340857delinsTT - - - chr15_005104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.240+4506C>T likely benign r.(=) p.(=) Unknown g.63340857C>T - - - chr15_005105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.240+4512C>T VUS r.(=) p.(=) Unknown g.63340863C>T - TPM1(NM_001301289.1):c.89C>T (p.T30I) - TPM1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.240+4534C>T likely benign r.(=) p.(=) Unknown g.63340885C>T - TPM1(NM_001018008.1):c.111C>T (p.H37=) - TPM1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.240+4534C>T VUS r.(=) p.(=) Unknown g.63340885C>T - TPM1(NM_001018008.1):c.111C>T (p.H37=) - TPM1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.240+4544C>A likely benign r.(=) p.(=) Unknown g.63340895C>A - TPM1(NM_001018008.1):c.121C>A (p.L41M) - TPM1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.240+4572T>A benign r.(=) p.(=) Unknown g.63340923T>A - TPM1(NM_001018004.2):c.240+4572T>A - TPM1_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.241-88G>A benign r.(=) p.(=) Unknown g.63349096G>A - - - TPM1_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.241-52T>A benign r.(=) p.(=) Unknown g.63349132T>A - - - TPM1_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.241-19C>G benign r.(=) p.(=) Unknown g.63349165C>G - TPM1(NM_001018004.2):c.241-19C>G - TPM1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2i c.241-12_241-11delinsTG pathogenic r.spl? p.? Paternal (confirmed) g.63349172_63349173delinsTG - - - TPM1_000021 - PubMed: Hoedemaekers 2010 - - Germline - - - 0 - DNA SEQ - - LVNC 20530761-Fam23 PubMed: Hoedemaekers 2010 - - - Netherlands - - 0 - - 1 Johan den Dunnen
-/. - c.241-8C>T benign r.(=) p.(=) Unknown g.63349176C>T - TPM1(NM_001018004.1):c.241-8C>T, TPM1(NM_001018004.2):c.241-8C>T - TPM1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.241-8C>T likely benign r.(=) p.(=) Unknown g.63349176C>T - TPM1(NM_001018004.1):c.241-8C>T, TPM1(NM_001018004.2):c.241-8C>T - TPM1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.250G>A pathogenic r.(?) p.(Asp84Asn) Unknown g.63349193G>A - TPM1(NM_001018004.2):c.250G>A (p.D84N), TPM1(NM_001018005.1):c.250G>A (p.D84N) - TPM1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.250G>A likely pathogenic r.(?) p.(Asp84Asn) Unknown g.63349193G>A - TPM1(NM_001018004.2):c.250G>A (p.D84N), TPM1(NM_001018005.1):c.250G>A (p.D84N) - TPM1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.250G>A likely pathogenic r.(?) p.(Asp84Asn) Unknown g.63349193G>A - TPM1(NM_001018004.2):c.250G>A (p.D84N), TPM1(NM_001018005.1):c.250G>A (p.D84N) - TPM1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.251A>C - r.(?) p.(Asp84Ala) Unknown g.63349194A>C - - - TPM1_000084 - - - - Unknown - - - 0 - DNA SEQ - - - - - - M - (Germany) - - 0 - - 1 IMGAG
?/. - c.253G>A VUS r.(?) p.(Val85Ile) Unknown g.63349196G>A - TPM1(NM_001365776.1):c.253G>A (p.V85I) - chr15_005355 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.275T>C pathogenic r.(?) p.(Ile92Thr) Parent #1 g.63349218T>C - T17389C - TPM1_000022 segregates (2) PubMed: Hershberger 2010 - - Germline - - - 0 - DNA SEQ - - CMD 20215591-PatC1 PubMed: Hershberger 2010 - - - United States - - 0 - - 2 Johan den Dunnen
+/. 3 c.284T>C pathogenic r.(?) p.(Val95Ala) Parent #1 g.63349227T>C - - - TPM1_000007 neutral charge substitution; increased calcium affinity PubMed: Karibe, OMIM:var0003 - - Germline - - - 0 - DNA SEQ - - CMH - PubMed: Karibe - - - - - - 0 - - 1 Johan den Dunnen
+/. 3 c.284T>C pathogenic r.(?) p.(Val95Ala) Parent #1 g.63349227T>C - - - TPM1_000007 - PubMed: Morita 2002 - - Germline - - - 0 - DNA SEQ - - CMH - PubMed: Morita 2002 - - - United States - - 0 - - 1 Johan den Dunnen
+/. - c.284T>C pathogenic r.(?) p.(Val95Ala) Unknown g.63349227T>C - - - TPM1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.314G>A VUS r.(?) p.(Arg105His) Unknown g.63349257G>A - TPM1(NM_001330351.1):c.206G>A (p.R69H) - chr15_005106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.340G>C VUS r.(?) p.(Glu114Gln) Unknown g.63349283G>C - TPM1(NM_001330351.1):c.232G>C (p.E78Q) - TPM1_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.374+65del benign r.(=) p.(=) Unknown g.63349382del - TPM1(NM_001018005.1):c.374+65delC - TPM1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.374+65del benign r.(=) p.(=) Unknown g.63349382del - TPM1(NM_001018005.1):c.374+65delC - TPM1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.375-75A>G benign r.(=) p.(=) Unknown g.63351687A>G - - - TPM1_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.375-5T>C - r.(?) p.(=) Unknown g.63351757T>C g.63059558T>C - - TPM1_000041 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - 0 - DNA SEQ - - CMH - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
?/. - c.375-5T>C - r.(?) p.(=) Unknown g.63351757T>C g.63059558T>C - - TPM1_000041 - PubMed: Neubauer 2017, Journal: Neubauer 2017 - rs377061868 Germline ? - - 0 - DNA SEQ-NG-I - - SIDS - PubMed: Neubauer 2017 Journal: Neubauer 2017 - M ? Switzerland European 00y01m 0 - - 1 Cordula Haas
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