All transcript variants in 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.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. - c.-44_-4del r.(?) p.(=) - likely benign g.63334985_63335025del g.63042786_63042826del - - TPM1_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.-13C>T r.(?) p.(=) - benign g.63335016C>T g.63042817C>T TPM1(NM_001018004.2):c.-13C>T - TPM1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.-7C>A r.(?) p.(=) - likely benign g.63335022C>A g.63042823C>A - - TPM1_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.22A>G r.(?) p.(Met8Val) - likely pathogenic g.63335050A>G g.63042851A>G - - TPM1_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.27G>A r.(?) p.(Gln9=) - likely benign g.63335055G>A g.63042856G>A - - TPM1_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.42C>G r.(?) p.(Asp14Glu) - VUS g.63335070C>G - - - TPM1_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.43A>G r.(?) p.(Lys15Glu) - VUS g.63335071A>G g.63042872A>G TPM1(NM_001018004.1):c.43A>G (p.K15E) - TPM1_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 c.45G>T r.(?) p.(Lys15Asn) - likely pathogenic g.63335073G>T g.63042874G>T G3244T - TPM1_000023 segregates (3) PubMed: Hershberger 2010 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.61C>G r.(?) p.(Arg21Gly) - pathogenic g.63335089C>G g.63042890C>G 61G>C (Arg21His) - TPM1_000031 reported variant description not possible; not in 192 control chromosomes PubMed: Fokstuen 2011 - - Germline - 1/122 cases - 0 - Johan den Dunnen
+?/. - c.64G>A r.(?) p.(Ala22Thr) - likely pathogenic g.63335092G>A g.63042893G>A TPM1(NM_001018004.2):c.64G>A (p.A22T) - TPM1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+?/. 1 c.67G>C r.(?) p.(Glu23Gln) - likely pathogenic g.63335095G>C g.63042896G>C G3266C - TPM1_000024 - PubMed: Hershberger 2010 - - Germline - - - 0 - Johan den Dunnen
?/. - c.82G>A r.(?) p.(Asp28Asn) - VUS g.63335110G>A g.63042911G>A TPM1(NM_001018004.1):c.82G>A (p.D28N) - TPM1_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.82G>A r.(?) p.(Asp28Asn) - VUS g.63335110G>A g.63042911G>A TPM1(NM_001018004.1):c.82G>A (p.D28N) - TPM1_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.97G>A r.(?) p.(Glu33Lys) - VUS g.63335125G>A g.63042926G>A TPM1(NM_001018004.2):c.97G>A (p.E33K) - TPM1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.105G>C r.(?) p.(Arg35Ser) - VUS g.63335133G>C g.63042934G>C - - TPM1_000046 - PubMed: Sahlin 2019, Journal: Sahlin 2019 - - Germline ? - - 0 - Ellika Sahlin
+/. 1 c.109A>G r.(?) p.(Lys37Glu) - pathogenic (dominant) g.63335137A>G g.63042938A>G - - TPM1_000028 not in 400 control chromosomes PubMed: Chang 2011 - - Germline - - - 0 - Johan den Dunnen
-/. - c.114+14C>T r.(=) p.(=) - benign g.63335156C>T g.63042957C>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 - VKGL-NL_AMC
-?/. - c.114+14C>T r.(=) p.(=) - likely benign g.63335156C>T g.63042957C>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 - VKGL-NL_Groningen
-?/. - c.114+14C>T r.(=) p.(=) - likely benign g.63335156C>T g.63042957C>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 - VKGL-NL_Utrecht
-/. - c.114+14C>T r.(=) p.(=) - benign g.63335156C>T g.63042957C>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 - VKGL-NL_Rotterdam
-?/. - c.114+14C>T r.(=) p.(=) - likely benign g.63335156C>T g.63042957C>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 - - - - - VKGL-NL_Nijmegen
-/. - c.114+91G>A r.(=) p.(=) - benign g.63335233G>A g.63043034G>A - - TPM1_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.115-319C>G r.(=) p.(=) - benign g.63335907C>G g.63043708C>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 - VKGL-NL_AMC
-/. - c.115-319C>G r.(=) p.(=) - benign g.63335907C>G g.63043708C>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 - VKGL-NL_Rotterdam
?/. - c.115-319C>G r.(=) p.(=) - VUS g.63335907C>G g.63043708C>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 - VKGL-NL_Leiden
-?/. - c.115-316G>A r.(=) p.(=) - likely benign g.63335910G>A g.63043711G>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 - VKGL-NL_Rotterdam
-/. - c.115-316G>A r.(=) p.(=) - benign g.63335910G>A g.63043711G>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 - - - - - VKGL-NL_AMC
-?/. - c.115-316G>A r.(=) p.(=) - likely benign g.63335910G>A g.63043711G>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 - - - - - VKGL-NL_Nijmegen
-?/. - c.115-316G>A r.(=) p.(=) - likely benign g.63335910G>A g.63043711G>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 - - - - - VKGL-NL_Utrecht
-?/. - c.115-288C>G r.(=) p.(=) - likely benign g.63335938C>G g.63043739C>G - - TPM1_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.115-278C>T r.(=) p.(=) - VUS g.63335948C>T g.63043749C>T TPM1(NM_001018020.1):c.158C>T (p.S53L) - TPM1_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.115-277G>A r.(=) p.(=) - benign g.63335949G>A g.63043750G>A TPM1(NM_001018007.2):c.159G>A (p.S53=) - TPM1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.115-277G>A r.(=) p.(=) - likely benign g.63335949G>A g.63043750G>A TPM1(NM_001018007.2):c.159G>A (p.S53=) - TPM1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.115-262C>T r.(=) p.(=) - benign g.63335964C>T g.63043765C>T TPM1(NM_001018007.2):c.174C>T (p.D58=) - TPM1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.115-235G>A r.(=) p.(=) - benign g.63335991G>A g.63043792G>A TPM1(NM_001018007.2):c.201G>A (p.A67=) - TPM1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.115-235G>C r.(=) p.(=) - benign g.63335991G>C - TPM1(NM_001365778.1):c.201G>C (p.A67=) - TPM1_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.115-233A>T r.(=) p.(=) - VUS g.63335993A>T g.63043794A>T - - TPM1_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.115-207G>A r.(=) p.(=) - likely benign g.63336019G>A g.63043820G>A - - TPM1_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.115-189G>T r.(=) p.(=) - benign g.63336037G>T g.63043838G>T TPM1(NM_001018004.2):c.115-189G>T - TPM1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.115-184G>A r.(=) p.(=) - benign g.63336042G>A g.63043843G>A TPM1(NM_001018004.2):c.115-184G>A - TPM1_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.115-32del r.(=) p.(=) - benign g.63336194del g.63043995del TPM1(NM_001018005.1):c.115-32delC - TPM1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.115-14T>A r.(=) p.(=) - VUS g.63336212T>A g.63044013T>A TPM1(NM_001018004.1):c.115-14T>A - TPM1_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 2 c.118G>A r.(?) p.(Glu40Lys) - pathogenic g.63336229G>A g.63044030G>A - - TPM1_000001 - PubMed: Olson, OMIM:var0005 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.120A>G r.(?) p.(Glu40=) - likely benign g.63336231A>G g.63044032A>G - - TPM1_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 c.160G>A r.(?) p.(Glu54Lys) - pathogenic g.63336271G>A g.63044072G>A - - TPM1_000002 - PubMed: Olson, OMIM:var0004 - - Germline - - - 0 - Johan den Dunnen
?/. - c.169C>G r.(?) p.(Leu57Val) - VUS g.63336280C>G g.63044081C>G TPM1(NM_001018004.1):c.169C>G (p.L57V) - TPM1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. 2 c.172G>C r.(?) p.(Asp58His) - pathogenic g.63336283G>C g.63044084G>C - - TPM1_000003 not in 400 control chromosomes PubMed: Frisso 2009 - - Germline - - - 0 - Johan den Dunnen
-/. - c.177A>G r.(?) p.(Lys59=) - benign g.63336288A>G g.63044089A>G TPM1(NM_001018004.2):c.177A>G (p.K59=) - TPM1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.180C>T r.(?) p.(Tyr60=) - benign g.63336291C>T g.63044092C>T TPM1(NM_001018004.1):c.180C>T (p.Y60=), TPM1(NM_001018004.2):c.180C>T (p.Y60=) - TPM1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.180C>T r.(?) p.(Tyr60=) - likely benign g.63336291C>T g.63044092C>T TPM1(NM_001018004.1):c.180C>T (p.Y60=), TPM1(NM_001018004.2):c.180C>T (p.Y60=) - TPM1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.180C>T r.(?) p.(Tyr60=) - benign g.63336291C>T g.63044092C>T TPM1(NM_001018004.1):c.180C>T (p.Y60=), TPM1(NM_001018004.2):c.180C>T (p.Y60=) - TPM1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.184G>C r.(?) p.(Glu62Gln) - pathogenic g.63336295G>C g.63044096G>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 - VKGL-NL_Groningen
+/. - c.184G>C r.(?) p.(Glu62Gln) - pathogenic g.63336295G>C g.63044096G>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 - VKGL-NL_Rotterdam
+/. 2 c.184G>C r.(?) p.(Glu62Gln) - pathogenic g.63336295G>C g.63044096G>C - - TPM1_000004 net charge subsitution 1 to 0; occurs at the fposition of the TPM1 heptad repeat PubMed: Jongbloed - - Germline - - - 0 - Johan den Dunnen
+/. - c.184G>C r.(?) p.(Glu62Gln) - pathogenic g.63336295G>C g.63044096G>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 - - - - - VKGL-NL_Nijmegen
+/. - c.184G>C r.(?) p.(Glu62Gln) - pathogenic g.63336295G>C g.63044096G>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 - - - - - VKGL-NL_AMC
+/. 2 c.188C>T r.(?) p.(Ala63Val) - pathogenic g.63336299C>T g.63044100C>T - - TPM1_000005 neutral charge substitution PubMed: NakajimaTaniguchi, PubMed: YamauchiTakihara - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.209A>C r.(?) p.(Lys70Thr) - pathogenic g.63336320A>C g.63044121A>C - - TPM1_000006 net charge substitution +1 to 0 PubMed: YamauchiTakihara - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.209A>C r.(?) p.(Lys70Thr) - pathogenic g.63336320A>C g.63044121A>C - - TPM1_000006 - PubMed: Heller - - Germline - - - 0 - Johan den Dunnen
?/. - c.235A>G r.(?) p.(Thr79Ala) - VUS g.63336346A>G g.63044147A>G TPM1(NM_001018005.1):c.235A>G (p.T79A) - TPM1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.240+1G>A r.spl? p.? - VUS g.63336352G>A g.63044153G>A - - TPM1_000180 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs730881146 Germline - 1/2795 individuals - 0 - Mohammed Faruq
-/. - c.240+21C>T r.(=) p.(=) - benign g.63336372C>T g.63044173C>T TPM1(NM_001018005.1):c.240+21C>T - TPM1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.240+21C>T r.(=) p.(=) - benign g.63336372C>T g.63044173C>T TPM1(NM_001018005.1):c.240+21C>T - TPM1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.240+4296A>G r.(=) p.(=) - benign g.63340647A>G g.63048448A>G TPM1(NM_001018008.1):c.-128A>G - TPM1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.240+4296A>G r.(=) p.(=) - VUS g.63340647A>G g.63048448A>G TPM1(NM_001018008.1):c.-128A>G - TPM1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.240+4354C>T r.(=) p.(=) - benign g.63340705C>T g.63048506C>T TPM1(NM_001018008.1):c.-70C>T - TPM1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.240+4424A>T r.(=) p.(=) - VUS g.63340775A>T g.63048576A>T TPM1(NM_001301289.1):c.1A>T (p.M1?) - TPM1_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.240+4449C>T r.(=) p.(=) - VUS g.63340800C>T g.63048601C>T - - TPM1_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.240+4465C>G r.(=) p.(=) - likely benign g.63340816C>G g.63048617C>G TPM1(NM_001018008.1):c.42C>G (p.I14M) - TPM1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.240+4465C>G r.(=) p.(=) - likely benign g.63340816C>G g.63048617C>G TPM1(NM_001018008.1):c.42C>G (p.I14M) - TPM1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2i c.240+4470G>T r.(?) p.(Ser81-29Ile) - pathogenic g.63340821G>T g.63048622G>T G8992T (Ser16Ile) - TPM1_000025 - PubMed: Hershberger 2010 - - Germline - - - 0 - Johan den Dunnen
?/. - c.240+4470G>T r.(=) p.(=) - VUS g.63340821G>T - - - TPM1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.240+4498G>T r.(=) p.(=) - VUS g.63340849G>T g.63048650G>T TPM1(NM_001301289.1):c.75G>T (p.E25D) - TPM1_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.240+4498G>T r.(=) p.(=) - VUS g.63340849G>T g.63048650G>T TPM1(NM_001301289.1):c.75G>T (p.E25D) - TPM1_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.240+4505_240+4506delinsTT r.(=) p.(=) - likely benign g.63340856_63340857delinsTT g.63048657_63048658delinsTT - - TPM1_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.240+4506C>T r.(=) p.(=) - likely benign g.63340857C>T g.63048658C>T - - TPM1_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.240+4512C>T r.(=) p.(=) - VUS g.63340863C>T g.63048664C>T TPM1(NM_001301289.1):c.89C>T (p.T30I) - TPM1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.240+4534C>T r.(=) p.(=) - likely benign g.63340885C>T g.63048686C>T TPM1(NM_001018008.1):c.111C>T (p.H37=) - TPM1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.240+4534C>T r.(=) p.(=) - VUS g.63340885C>T g.63048686C>T TPM1(NM_001018008.1):c.111C>T (p.H37=) - TPM1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.240+4544C>A r.(=) p.(=) - likely benign g.63340895C>A g.63048696C>A TPM1(NM_001018008.1):c.121C>A (p.L41M) - TPM1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.240+4572T>A r.(=) p.(=) - benign g.63340923T>A g.63048724T>A TPM1(NM_001018004.2):c.240+4572T>A - TPM1_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.241-88G>A r.(=) p.(=) - benign g.63349096G>A g.63056897G>A - - TPM1_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.241-52T>A r.(=) p.(=) - benign g.63349132T>A g.63056933T>A - - TPM1_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.241-19C>G r.(=) p.(=) - benign g.63349165C>G g.63056966C>G TPM1(NM_001018004.2):c.241-19C>G - TPM1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 2i c.241-12_241-11delinsTG r.spl? p.(=) - pathogenic g.63349172_63349173delinsTG g.63056973_63056974delinsTG - - TPM1_000021 - PubMed: Hoedemaekers 2010 - - Germline - - - 0 - Johan den Dunnen
-/. - c.241-8C>T r.(=) p.(=) - benign g.63349176C>T g.63056977C>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 - VKGL-NL_AMC
-?/. - c.241-8C>T r.(=) p.(=) - likely benign g.63349176C>T g.63056977C>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 - VKGL-NL_Groningen
+/. - c.250G>A r.(?) p.(Asp84Asn) - pathogenic g.63349193G>A g.63056994G>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 - VKGL-NL_AMC
+?/. - c.250G>A r.(?) p.(Asp84Asn) - likely pathogenic g.63349193G>A g.63056994G>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 - VKGL-NL_Rotterdam
+?/. - c.250G>A r.(?) p.(Asp84Asn) - likely pathogenic g.63349193G>A g.63056994G>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 - - - - - VKGL-NL_Nijmegen
+?/. - c.251A>C r.(?) p.(Asp84Ala) - likely pathogenic g.63349194A>C g.63056995A>C - - TPM1_000084 - - - - Unknown - - - 0 - IMGAG
?/. - c.253G>A r.(?) p.(Val85Ile) - VUS g.63349196G>A g.63056997G>A TPM1(NM_001365776.1):c.253G>A (p.V85I) - TPM1_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 3 c.275T>C r.(?) p.(Ile92Thr) - pathogenic g.63349218T>C g.63057019T>C T17389C - TPM1_000022 segregates (2) PubMed: Hershberger 2010 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.284T>C r.(?) p.(Val95Ala) - pathogenic g.63349227T>C g.63057028T>C - - TPM1_000007 neutral charge substitution; increased calcium affinity PubMed: Karibe, OMIM:var0003 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.284T>C r.(?) p.(Val95Ala) - pathogenic g.63349227T>C g.63057028T>C - - TPM1_000007 - PubMed: Morita 2002 - - Germline - - - 0 - Johan den Dunnen
+/. - c.284T>C r.(?) p.(Val95Ala) - pathogenic g.63349227T>C g.63057028T>C - - TPM1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.314G>A r.(?) p.(Arg105His) - VUS g.63349257G>A g.63057058G>A TPM1(NM_001330351.1):c.206G>A (p.R69H) - TPM1_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.340G>C r.(?) p.(Glu114Gln) - VUS g.63349283G>C g.63057084G>C TPM1(NM_001330351.1):c.232G>C (p.E78Q) - TPM1_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.374+65del r.(=) p.(=) - benign g.63349382del g.63057183del TPM1(NM_001018005.1):c.374+65delC - TPM1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.374+65del r.(=) p.(=) - benign g.63349382del g.63057183del TPM1(NM_001018005.1):c.374+65delC - TPM1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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