Full data view for gene CAPN3

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_000070.2 transcript reference sequence.

2856 entries on 29 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     
-/. 1 c.-763C>G benign r.(?) p.(=) Parent #1 g.42651241C>G - - - CAPN3_000177 - - - - Germline - 1/76 - 0 - DNA DHPLC - - ? - - based on AC012651.8 nt 39361 - - Germany - - 0 - - 1 Gabriele Dekomien
-/. 1 c.-719A>T benign r.(?) p.(=) Parent #1 g.42651285A>T - - - CAPN3_000176 - - - - Germline - 4/76 - 0 - DNA DHPLC - - ? - - based on AC012651.8 nt 39415 - - Germany - - 0 - - 4 Gabriele Dekomien
?/. 1 c.-552G>A VUS r.(?) p.(=) Parent #1 g.42651452G>A - - - CAPN3_000262 - PubMed: Todorova 2005 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Todorova 2005 potential promoter mutation M - Germany - - 0 - - 1 Lab Müller-Reible
?/. 1 c.-408T>C VUS r.(?) p.? Parent #2 g.42651596T>C - - - CAPN3_000049 - PubMed: Richard 1995 - - Germline - - - 0 - DNA HD, SEQ - - LGMD 07720071-M42 PubMed: Richard 1995 - - - France - - 0 - - 1 Johan den Dunnen
-/. 1 c.-408T>C benign r.(?) p.(=) Parent #1 g.42651596T>C - - - CAPN3_000049 - PubMed: Richard 1999 - - Germline - - - 0 - DNA SSCA - - ? - PubMed: Richard 1999 - - - - - - 0 - - 1 Johan den Dunnen
-/. 1 c.-408T>C benign r.(?) p.(=) Parent #1 g.42651596T>C - - - CAPN3_000049 - - - - Germline - 4/76 - 0 - DNA DHPLC - - ? - - - - - Germany - - 0 - - 4 Gabriele Dekomien
-/. 1 c.-322A>C benign r.(?) p.(=) Parent #1 g.42651682A>C - - - CAPN3_000175 - - - - Germline - 2/76 - 0 - DNA DHPLC - - ? - - - - - Germany - - 0 - - 2 Gabriele Dekomien
+/. _1_1i c.(?_-306)_(309+1_310-1)del pathogenic r.0? p.0? Parent #1 g.(?_42651698)_(42652313_42676680)del - - - CAPN3_000447 exon 1 deletion, unknown variant 2nd allele - - - Germline - - - 0 - DNA PCR - - LGMD - - - - - (France) - - 0 - - 1 Nicolas Levy
-/. 1 c.-104G>C benign r.-104g>c p.(=) Parent #1 g.42651900G>C - - - CAPN3_000171 - - - - Germline - 3/76 - 0 - DNA DHPLC - - ? - - - - - Germany - - 0 - - 3 Gabriele Dekomien
?/. 1 c.-104G>C VUS r.-104g>c p.= Parent #1 g.42651900G>C - - - CAPN3_000171 - - - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - ? - - - M - - - - 0 - - 1 Rosetta Marotta
?/. 10 c.(1327T>C) VUS r.1327u>c p.Ser443Pro Parent #1 g.42691823T>C - - - CAPN3_000349 - - - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - LGMD - - - - - Australia - - 0 - - 1 Maria Chiotis
+/. 5i c.? pathogenic r.(?_802)_(945_?)del p.? Parent #2 g.? - - - CAPN3_000000 no expression of exon 6 sequences PubMed: Krahn 2007 - - Germline - - - 0 - DNA, RNA RT-PCR, DHPLC, SEQ - - LGMD - PubMed: Krahn 2007 - - - France - - 0 - - 1 Johan den Dunnen
+/. 5i c.? pathogenic r.802_945del p.Asp268_Arg315del Parent #1 g.? - - - CAPN3_000000 DNA change not described (possibly c.802-?_945+?del) Stehlikova ESHG2009 P16.45 - - Germline - - - 0 - DNA SEQ - - LGMD - Stehlikova ESHG2009 P16.45 - - - Czech Republic - - 0 - - 1 Johan den Dunnen
+?/. - c.7del likely pathogenic (recessive) r.(?) p.(Thr3Profs*54) Both (homozygous) g.42652010del g.42359812del 7delA - CAPN3_000685 - PubMed: Izumi 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG - 42 gene panel MD Dys195-1 PubMed: Izumi 2015 - F - Egypt - - 0 - - 1 Johan den Dunnen
+/. 1 c.8C>A pathogenic r.(?) p.(Thr3Asn) Parent #1 g.42652011C>A - - - CAPN3_000332 - - - - Germline - - - 0 - DNA SSCA - - LGMD - - - - - Finland - - 0 - - 1 Amets Sáenz
+/. 1 c.8C>A pathogenic r.(?) p.(Thr3Asn) Parent #2 g.42652011C>A - - - CAPN3_000332 - - - - Germline - - - 0 - DNA SSCA - - LGMD - - - - - Finland - - 0 - - 1 Amets Sáenz
-/. 1 c.9C>T benign r.(?) p.(=) Parent #1 g.42652012C>T - - - CAPN3_000050 determined on >100 chromosomes PubMed: Richard 1999 - - Germline - <0.01 - 0 - DNA SSCA - - ? - PubMed: Richard 1999 - - - - - - 0 - - 1 Johan den Dunnen
+/. 1 c.10G>A pathogenic r.(?) p.(Val4Ile) Parent #1 g.42652013G>A - - - CAPN3_000051 - PubMed: Richard 1999 - - Germline - - - 0 - DNA SSCA - - LGMD - PubMed: Richard 1999 - - - Spain - - 0 - - 1 Johan den Dunnen
+/. 1 c.10G>A pathogenic r.(?) p.(Val4Ile) Parent #1 g.42652013G>A - - - CAPN3_000051 - - - - Germline - - - 0 - DNA SSCA - - LGMD - - - - - Spain - - 0 - - 1 Amets Sáenz
?/. 1 c.10G>A VUS r.(?) p.(Val4Ile) Parent #1 g.42652013G>A - - - CAPN3_000051 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 1 c.19_23del pathogenic r.(?) p.(Ala7Cysfs*8) Parent #1 g.42652022_42652026del - - - CAPN3_000020 - PubMed: Richard 1997, PubMed: Dincer 1997 - - Germline - - HpaII- 0 - DNA SEQ - - LGMD 09150160-T10 PubMed: Richard 1997, PubMed: Dincer 1997 4-generation family, parents 1st cousins, 1 affected M - Turkey - - 0 - - 1 Johan den Dunnen
+/. 1 c.19_23del pathogenic r.(?) p.(Ala7Cysfs*8) Parent #2 g.42652022_42652026del - - - CAPN3_000020 - PubMed: Richard 1997, PubMed: Dincer 1997 - - Germline - - HpaII- 0 - DNA SEQ - - LGMD 09150160-T10 PubMed: Richard 1997, PubMed: Dincer 1997 4-generation family, parents 1st cousins, 1 affected M - Turkey - - 0 - - 1 Johan den Dunnen
+?/. - c.40G>A likely pathogenic (recessive) r.(?) p.(Val14Ile) Unknown g.8775602G>A g.8733916G>A - - CAV3_000067 - PubMed: Izumi 2015 - rs121909281 Germline - - - 0 - DNA SEQ, SEQ-NG - 42 gene panel MD Dys149-1 PubMed: Izumi 2015 - M - Japan - - 0 - - 1 Johan den Dunnen
?/. 1 c.41C>T VUS r.(?) p.A14V Parent #1 g.42652044C>T - - - CAPN3_000562 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 1 c.59del pathogenic r.(?) p.(Pro20Glnfs*37) Paternal (inferred) g.42652062del - 59delC - CAPN3_000530 - - - - Germline yes - - 0 - DNA SEQ - - LGMD - - - F - (Italy) white - 0 - - 1 Marina Fanin
+/. 1 c.59del pathogenic r.(?) p.(Pro20Glnfs*37) Maternal (inferred) g.42652062del - 59delC - CAPN3_000530 - - - - Germline yes - - 0 - DNA SEQ - - LGMD - - - F - (Italy) white - 0 - - 1 Marina Fanin
+/. 1 c.60del pathogenic r.(?) p.(Pro22Glnfs*35) Parent #1 g.42652063del - 60delA - CAPN3_000052 - Ginjaar WMS2005 - - Germline - - BsrI+ 0 - DNA DGGE - - LGMD - Ginjaar WMS2005 - M - Netherlands - - 0 - - 1 Ieke Ginjaar
+/. 1 c.60del pathogenic r.(?) p.(Pro22Glnfs*35) Parent #2 g.42652063del - 60delA - CAPN3_000052 - Ginjaar WMS2005 - - Germline - - BsrI+ 0 - DNA DGGE - - LGMD - Ginjaar WMS2005 - M - Netherlands - - 0 - - 1 Ieke Ginjaar
+/. 1 c.60del pathogenic r.(?) p.(Pro22Glnfs*35) Parent #1 g.42652063del - 60delA - CAPN3_000052 - - - - Germline - - BsrI+ 0 - DNA SSCA - - LGMD - - - - - Spain - - 0 - - 1 Amets Sáenz
+/. 1 c.60del pathogenic r.(?) p.(Pro22Glnfs*35) Parent #1 g.42652063del - 60delA - CAPN3_000052 - PubMed: Richard 1999 - - Germline - - AvaII+ 0 - DNA SSCA - - LGMD - PubMed: Richard 1999 - - - Spain - - 0 - - 1 Johan den Dunnen
+/. 1 c.60del pathogenic r.(?) p.(Pro22Glnfs*35) Parent #1 g.42652063del - 60delA - CAPN3_000052 - PubMed: de Paula - - Germline - - BbvI+ 0 - DNA SSCA, DHPLC - - LGMD - PubMed: de Paula affecteds 2F, 2M F - Brazil - - 0 - - 4 Johan den Dunnen
+/. 1 c.60del pathogenic r.(?) p.(Pro22Glnfs*35) Parent #2 g.42652063del - 60delA - CAPN3_000052 - - - - Germline - - BsrI+ 0 - DNA SSCA - - LGMD - - - - - Spain - - 0 - - 1 Amets Sáenz
?/. 1 c.61G>T VUS r.(?) p.(Gly21Trp) Parent #1 g.42652064G>T - - - CAPN3_000563 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 1 c.62G>A pathogenic r.(?) p.(Gly21Glu) Parent #2 g.42652065G>A - - - CAPN3_000265 - - - - Germline - - - 0 - DNA SEQ - - LGMD - - - F - Germany - - 0 - - 1 Lab Müller-Reible
?/. 1 c.62G>A VUS r.(?) p.(Gly21Glu) Unknown g.42652065G>A - - - CAPN3_000265 - - - - Germline - - - 0 - DNA SEQ - - LGMD - - distal beginning LGMD M - (Germany) European - 0 - - 1 Lab Müller-Reible
-/. 1 c.62G>A benign r.(?) p.(Gly21Glu) Unknown g.42652065G>A - - - CAPN3_000265 from website {DBsub-Emory} - - - Unknown - - - 0 - DNA SEQ - - ? Emory-? - - - - (United States) - - 0 - - 1 Madhuri Hegde
-?/. - c.62G>A likely benign r.(?) p.(Gly21Glu) Unknown g.42652065G>A - CAPN3(NM_000070.2):c.62G>A (p.(Gly21Glu)) - CAPN3_000265 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.77C>T pathogenic r.(?) p.(Pro26Leu) Parent #1 g.42652080C>T - - - CAPN3_000053 - PubMed: Richard 1999 - - Germline - - NlaIV- 0 - DNA SEQ - - LGMD - PubMed: Richard 1999 - - - Italy - - 0 - - 1 Johan den Dunnen
+/. 1 c.77C>T pathogenic r.(?) p.(Pro26Leu) Parent #1 g.42652080C>T - - - CAPN3_000053 - PubMed: Piluso 2005 - - Germline - - NsiI-;BspHi+ 0 - DNA DHPLC - - LGMD - PubMed: Piluso 2005 - F - Italy - - 0 - - 1 Johan den Dunnen
+/. 1 c.77C>T pathogenic r.(?) p.(Pro26Leu) Parent #1 g.42652080C>T - - - CAPN3_000053 - PubMed: Guglieri 2007 - - Germline - - NlaIV- 0 - DNA SEQ - - LGMD - PubMed: Guglieri 2007 relative of 14663034b-XXXII.2 F - Italy - >43y 0 - - 1 Johan den Dunnen
+/. 1 c.77C>T pathogenic r.(?) p.(Pro26Leu) Parent #1 g.42652080C>T - - - CAPN3_000053 - PubMed: Guglieri 2007 - - Germline - - NlaIV- 0 - DNA SEQ - - LGMD - PubMed: Guglieri 2007 relative of 14663034b-XXXII.1 M - Italy - >45y 0 - - 1 Johan den Dunnen
?/. 1 c.77C>T VUS r.(?) p.(Pro26Leu) Parent #1 g.42652080C>T - - - CAPN3_000053 no second variant in CAPN3 PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
-/. 1 c.78G>A benign r.(?) p.(=) Unknown g.42652081G>A - - - CAPN3_000513 from website {DBsub-Emory} - - - Unknown - - - 0 - DNA SEQ - - ? Emory-? - - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 1 c.87C>G VUS r.(?) p.(Ser29Arg) Parent #1 g.42652090C>G - - - CAPN3_000564 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
-/. - c.96T>C benign r.(?) p.(=) Unknown g.42652099T>C - CAPN3(NM_000070.2):c.96T>C (p.=) - CAPN3_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 1 c.96T>C likely benign r.(?) p.(=) Parent #2 g.42652099T>C - - - CAPN3_000061 - - - rs1801496 Germline - - - 0 - DNA SEQ - - LGMD - - - M - Germany - - 0 - - 1 Lab Müller-Reible
-?/. 1 c.96T>C likely benign r.(?) p.(=) Parent #1 g.42652099T>C - - - CAPN3_000061 - - - rs1801496 Germline - - - 0 - DNA SEQ - - LGMD - - - F - Germany - - 0 - - 1 Lab Müller-Reible
-?/. 1 c.96T>C likely benign r.(?) p.(=) Parent #1 g.42652099T>C - - - CAPN3_000061 - - - rs1801496 Germline - - - 0 - DNA SEQ - - ? - - - M - Germany - - 0 - - 1 Lab Müller-Reible
-/. 1 c.96T>C benign r.(?) p.(=) Parent #1 g.42652099T>C - - - CAPN3_000061 - PubMed: Richard 1995 - rs1801496 Germline - - HhaI-;AluI+ 0 - DNA HD, SEQ - - LGMD 07720071-M31 PubMed: Richard 1995 - - - France - - 0 - - 1 Johan den Dunnen
-/. 1 c.96T>C benign r.(?) p.(=) Parent #1 g.42652099T>C - - - CAPN3_000061 - PubMed: Piluso 2005 - rs1801496 Germline - - HaeIII- 0 - DNA SEQ - - ? - PubMed: Piluso 2005 - - - Italy - - 0 - - 1 Johan den Dunnen
-/. 1 c.96T>C benign r.(?) p.(=) Parent #1 g.42652099T>C - - - CAPN3_000061 - PubMed: Saenz 2005 - rs1801496 Germline - 0.12 HhaI-;AluI+ 0 - DNA SEQ - - ? - PubMed: Saenz 2005 - - - Spain - - 0 - - 1 Johan den Dunnen
-/. 1 c.96T>C benign r.(?) p.(=) Parent #1 g.42652099T>C - - - CAPN3_000061 - - - rs1801496 Germline - - HhaI-;HgiaI+ 0 - DNA SEQ - - ? - - - - - Netherlands - - 0 - - 26 Ieke Ginjaar
-/. 1 c.96T>C benign r.(?) p.(=) Parent #1 g.42652099T>C - - - CAPN3_000061 - PubMed: Krahn 2006 - rs1801496 Germline - 11/42 HhaI-;HgiaI+ 0 - DNA DHPLC, SEQ - - LGMD - PubMed: Krahn 2006 - - - France - - 0 - - 11 Johan den Dunnen
-?/. 1 c.96T>C likely benign r.(?) p.(=) Unknown g.42652099T>C - - - CAPN3_000061 - - - rs1801496 Germline - - - 0 - DNA SEQ - - MD - - - F - - - - 0 - - 1 Rosetta Marotta
-/. 1 c.96T>C benign r.(?) p.(=) Unknown g.42652099T>C - - - CAPN3_000061 from website {DBsub-Emory} - - rs1801496 Unknown - - - 0 - DNA SEQ - - ? Emory-? - - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 1 c.96T>C VUS r.(?) p.(=) Unknown g.42652099T>C - - - CAPN3_000061 - - - rs1801496 Unknown - - - 0 - DNA SEQ - - LGMD - Pathak P 2009 - M no India - - 0 - - 1 Pankaj Pathak
+/. 1 c.100del pathogenic r.(?) p.(Ala34fs*23) Parent #2 g.42652103del - 100delG - CAPN3_000165 - PubMed: Fanin 2004, PubMed: Pizzanelli 2006 - - Germline - - - 0 - DNA DHPLC - - LGMD - PubMed: Fanin 2004, PubMed: Pizzanelli 2006 - F - China - - 0 - - 1 Marina Fanin
+/. 1 c.133G>A pathogenic r.133g>a p.Ala45Thr Parent #1 g.42652136G>A - - - CAPN3_000167 - PubMed: Chrobakova, PubMed: Hermanova 2005, PubMed: Stehlikova 2007 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ, DHPLC - - LGMD Pat1/3 PubMed: Chrobakova, PubMed: Hermanova 2005, PubMed: Stehlikova 2007 - M - Czech Republic - >48y 0 - - 1 Johan den Dunnen
+/. 1 c.133G>A pathogenic r.133g>a p.Ala45Thr Parent #2 g.42652136G>A - - - CAPN3_000167 - PubMed: Chrobakova, PubMed: Hermanova 2005, PubMed: Stehlikova 2007 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ, DHPLC - - LGMD Pat1/3 PubMed: Chrobakova, PubMed: Hermanova 2005, PubMed: Stehlikova 2007 - M - Czech Republic - >48y 0 - - 1 Johan den Dunnen
?/. 1 c.133G>A VUS r.(?) p.(Ala45Thr) Parent #1 g.42652136G>A - - - CAPN3_000167 - - - - Germline - - - 0 - DNA SEQ - - LGMD - - - - - - - - 0 - - 1 Ieke Ginjaar
+/. 1 c.133G>A pathogenic r.(?) p.(Ala45Thr) Parent #2 g.42652136G>A - - - CAPN3_000167 - - - - Germline - - - 0 - DNA SEQ - - LGMD - - - F - Germany - - 0 - - 1 Lab Müller-Reible
+/. 1 c.133G>A pathogenic r.(?) p.(Ala45Thr) Parent #2 g.42652136G>A - - - CAPN3_000167 - PubMed: Krahn 2006 - - Germline - - - 0 - DNA DHPLC - - LGMD Pat63 PubMed: Krahn 2006, OMIM:var0006 - F - France - - 0 - - 1 Johan den Dunnen
+/. 1 c.133G>A pathogenic r.(?) p.(Ala45Thr) Parent #1 g.42652136G>A - - - CAPN3_000167 - PubMed: Groen 2007 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Groen 2007 - M - United Kingdom (Great Britain) - - 0 - - 1 Ann Curtis
+/. 1 c.133G>A pathogenic r.(?) p.(Ala45Thr) Parent #2 g.42652136G>A - - - CAPN3_000167 - PubMed: Groen 2007 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Groen 2007 - M - United Kingdom (Great Britain) - - 0 - - 1 Ann Curtis
+/. 1 c.133G>A pathogenic r.(?) p.(Ala45Thr) Parent #1 g.42652136G>A - - - CAPN3_000167 - PubMed: Groen 2007 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Groen 2007 - F - United Kingdom (Great Britain) - - 0 - - 1 Ann Curtis
+/. 1 c.133G>A pathogenic r.(?) p.(Ala45Thr) Parent #1 g.42652136G>A - - - CAPN3_000167 - PubMed: Groen 2007 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Groen 2007 - M - United Kingdom (Great Britain) - - 0 - - 1 Ann Curtis
+/. 1 c.133G>A pathogenic r.(?) p.(Ala45Thr) Parent #1 g.42652136G>A - - - CAPN3_000167 - PubMed: Groen 2007 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Groen 2007 - F - United Kingdom (Great Britain) - - 0 - - 1 Ann Curtis
+/. 1 c.133G>A pathogenic r.(?) p.(Ala45Thr) Unknown g.42652136G>A - - - CAPN3_000167 from website {DBsub-Emory} - - - Unknown - - - 0 - DNA SEQ - - ? Emory-? - - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 1 c.139A>T VUS r.(?) p.(Ile47Phe) Unknown g.42652142A>T - - - CAPN3_000531 - - - - Unknown - - - 0 - DNA SEQ - - LGMD - - - M - - white - 0 - - 1 Marina Fanin
+/. 1 c.140_142del pathogenic r.(?) p.(Ile47del) Parent #1 g.42652143_42652145del - - - CAPN3_000193 - - - - Germline - - - 0 - DNA SSCA - - LGMD - - - - - France - - 0 - - 1 Amets Sáenz
+/. 1 c.140_142del pathogenic r.(?) p.(Ile47del) Parent #2 g.42652143_42652145del - - - CAPN3_000193 - - - - Germline - - - 0 - DNA SSCA - - LGMD - - - - - France - - 0 - - 1 Amets Sáenz
+/. 1 c.140_142del pathogenic r.(?) p.(Ile47del) Parent #1 g.42652143_42652145del - - - CAPN3_000193 - PubMed: Piluso 2005 - - Germline - - - 0 - DNA DHPLC - - LGMD - PubMed: Piluso 2005 - M - Italy - - 0 - - 1 Marina Fanin
+/. 1 c.140_142del pathogenic r.(?) p.(Ile47del) Parent #2 g.42652143_42652145del - - - CAPN3_000193 - PubMed: Piluso 2005 - - Germline - - - 0 - DNA DHPLC - - LGMD - PubMed: Piluso 2005 - M - Italy - - 0 - - 1 Marina Fanin
+/. 1 c.140_142del pathogenic r.(?) p.(Ile47del) Parent #1 g.42652143_42652145del - - - CAPN3_000193 - PubMed: Fanin 2005 + PubMed: Piluso 2005 - - Germline - - - 0 - DNA DHPLC - - LGMD - PubMed: Fanin 2005 + PubMed: Piluso 2005 - M - Italy - - 0 - - 1 Marina Fanin
+/. 1 c.140_142del pathogenic r.(?) p.(Ile47del) Parent #2 g.42652143_42652145del - - - CAPN3_000193 - PubMed: Fanin 2005 + PubMed: Piluso 2005 - - Germline - - - 0 - DNA DHPLC - - LGMD - PubMed: Fanin 2005 + PubMed: Piluso 2005 - M - Italy - - 0 - - 1 Marina Fanin
+/. 1 c.140_142del pathogenic r.(?) p.(Ile47del) Parent #1 g.42652143_42652145del - - - CAPN3_000193 - PubMed: Fanin 2005 + PubMed: Piluso 2005 - - Germline - - - 0 - DNA DHPLC - - LGMD - PubMed: Fanin 2005 + PubMed: Piluso 2005 - F - Italy - - 0 - - 1 Marina Fanin
+/. 1 c.140_142del pathogenic r.(?) p.(Ile47del) Parent #2 g.42652143_42652145del - - - CAPN3_000193 - PubMed: Fanin 2005 + PubMed: Piluso 2005 - - Germline - - - 0 - DNA DHPLC - - LGMD - PubMed: Fanin 2005 + PubMed: Piluso 2005 - F - Italy - - 0 - - 1 Marina Fanin
+/. 1 c.140_142del pathogenic r.(?) p.(Ile47del) Parent #1 g.42652143_42652145del - - - CAPN3_000193 - - - - Germline - - - 0 - DNA SSCA - - LGMD - - - - - France - - 0 - - 1 Amets Sáenz
+/. 1 c.140_142del pathogenic r.(?) p.(Ile47del) Parent #1 g.42652143_42652145del - - - CAPN3_000193 - PubMed: Krahn 2006 - - Germline - - - 0 - DNA DHPLC - - LGMD Pat28 PubMed: Krahn 2006 - M - France - >79y 0 - - 1 Johan den Dunnen
+/. 1 c.140_142del pathogenic r.(?) p.(Ile47del) Parent #1 g.42652143_42652145del - - - CAPN3_000193 - - - - Germline - - - 0 - DNA SSCA - - LGMD - - - - - Italy - - 0 - - 2 Amets Sáenz
+/. 1 c.143G>A pathogenic r.(?) p.(Ser48Asn) Parent #2 g.42652146G>A - - - CAPN3_000201 - PubMed: Fanin 2004 + PubMed: Piluso 2005 - - Germline - - - 0 - DNA DHPLC - - hCK - PubMed: Fanin 2004 + PubMed: Piluso 2005 - M - Italy - - 0 - - 1 Marina Fanin
+/. 1 c.145C>T pathogenic r.(?) p.(Arg49Cys) Parent #1 g.42652148C>T - - - CAPN3_000263 - PubMed: Groen 2007 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Groen 2007 - M - Germany - - 0 - - 1 Lab Müller-Reible
+/. 1 c.145C>T pathogenic r.(?) p.(Arg49Cys) Parent #1 g.42652148C>T - - - CAPN3_000263 - PubMed: Groen 2007 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Groen 2007 - M - United Kingdom (Great Britain) - - 0 - - 1 Ann Curtis
+/. 1 c.145C>T pathogenic r.(?) p.(Arg49Cys) Unknown g.42652148C>T - - - CAPN3_000263 - - - - Unknown - - - 0 - DNA PCR, SEQ - - LGMD - - - - - United States - - 0 - - 1 Tom Winder
+/. 1 c.145C>T pathogenic r.(?) p.(Arg49Cys) Parent #1 g.42652148C>T - - - CAPN3_000263 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 1 c.145C>T pathogenic r.(?) p.(Arg49Cys) Parent #1 g.42652148C>T - - - CAPN3_000263 2 Variants detected in CAPN3 PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 1 c.145C>T pathogenic r.(?) p.(Arg49Cys) Parent #1 g.42652148C>T - - - CAPN3_000263 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 1 c.145C>T pathogenic r.(?) p.(Arg49Cys) Parent #1 g.42652148C>T - - - CAPN3_000263 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 1 c.145C>T pathogenic r.(?) p.(Arg49Cys) Parent #1 g.42652148C>T - - - CAPN3_000263 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 1 c.145C>T pathogenic r.(?) p.(Arg49Cys) Parent #1 g.42652148C>T - - - CAPN3_000263 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 1 c.145C>T pathogenic r.(?) p.(Arg49Cys) Parent #1 g.42652148C>T - - - CAPN3_000263 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 1 c.145C>T pathogenic r.(?) p.(Arg49Cys) Parent #1 g.42652148C>T - - - CAPN3_000263 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 1 c.146G>A pathogenic r.(?) p.(Arg49His) Parent #2 g.42652149G>A - - - CAPN3_000190 - PubMed: Canki-Klain, PubMed: Milic 2005 - - Germline - - - 0 - DNA PCR - - LGMD Fam24 PubMed: Canki-Klain, PubMed: Milic 2005, OMIM:var0009 - - - Croatia (Hrvatska) - - 0 - - 1 Johan den Dunnen
+/. 1 c.146G>A pathogenic r.(?) p.(Arg49His) Parent #2 g.42652149G>A - - - CAPN3_000190 - PubMed: Piluso 2005 - - Germline - - - 0 - DNA DHPLC - - LGMD - PubMed: Piluso 2005 - M - Hungary - - 0 - - 1 Johan den Dunnen
+/. 1 c.146G>A pathogenic r.(?) p.(Arg49His) Parent #1 g.42652149G>A - - - CAPN3_000190 - PubMed: Piluso 2005 - - Germline - - - 0 - DNA DHPLC - - LGMD - PubMed: Piluso 2005 - F - Turkey - - 0 - - 1 Johan den Dunnen
+/. 1 c.146G>A pathogenic r.(?) p.(Arg49His) Parent #2 g.42652149G>A - - - CAPN3_000190 - - - - Germline - - - 0 - DNA SEQ - - LGMD - - - F - Germany - - 0 - - 1 Lab Müller-Reible
+/. 1 c.146G>A pathogenic r.(?) p.(Arg49His) Parent #1 g.42652149G>A - - - CAPN3_000190 - PubMed: Krahn 2006 - - Germline - - - 0 - DNA DHPLC - - LGMD Pat52 PubMed: Krahn 2006 - F - France - - 0 - - 1 Johan den Dunnen
+/. 1 c.146G>A pathogenic r.(?) p.(Arg49His) Parent #1 g.42652149G>A - - - CAPN3_000190 - PubMed: Krahn 2006 - - Germline - - - 0 - DNA DHPLC - - LGMD Pat55 PubMed: Krahn 2006 - F - France - >63y 0 - - 1 Johan den Dunnen
+/. 1 c.146G>A pathogenic r.(?) p.(Arg49His) Parent #1 g.42652149G>A - - - CAPN3_000190 - PubMed: Todorova 2007 - - Germline - - - 0 - DNA SEQ - - LGMD Pat15 PubMed: Todorova 2007 - M - Bulgaria - >51y 0 - - 1 Johan den Dunnen
+?/. - c.146G>A ACMG: 4 r.(?) p.(Arg49His) Paternal (confirmed) g.42652149G>A g.42359951G>A - - CAPN3_000190 ACMG PM2, PM5, PP3, PP5 PubMed: Özyilmaz 2019 - rs863224958 Germline - - - 0 - DNA SEQ, SEQ-NG - LGMD gene panel LGMD Pat2 PubMed: Özyilmaz 2019 2-generation family, affected, unaffected heterozygous carrier parents F - Turkey - - 0 - - 1 Johan den Dunnen
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