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.

4095 entries on 41 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 16i_24_ c.(1914+1_1915-1)_*544{0} r.? p.? Both (homozygous) - pathogenic (recessive) g.(42700523_42701500)_(42704515_?)del g.(42408325_42409302)_(42412317_?)del del ex17-24 - CAPN3_000640 - PubMed: Patel 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - 29-gene panel MD P? PubMed: Patel 2021 patient - - India India-W - - - - 1 Johan den Dunnen
+/. 16i_24_ c.(1914+1_1915-1)_*544{0} r.? p.? Both (homozygous) - pathogenic (recessive) g.(42700523_42701500)_(42704515_?)del g.(42408325_42409302)_(42412317_?)del del ex17-24 - CAPN3_000640 - PubMed: Patel 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - 29-gene panel MD P? PubMed: Patel 2021 patient - - India India-W - - - - 1 Johan den Dunnen
+/. 16i_24_ c.(1914+1_1915-1)_*544{0} r.? p.? Both (homozygous) - pathogenic (recessive) g.(42700523_42701500)_(42704515_?)del g.(42408325_42409302)_(42412317_?)del del ex17-24 - CAPN3_000640 - PubMed: Patel 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - 29-gene panel MD P? PubMed: Patel 2021 patient - - India India-W - - - - 1 Johan den Dunnen
-/. 1 c.-763C>G r.(?) p.(=) Parent #1 - benign g.42651241C>G g.42359043C>G - - CAPN3_000177 - - - - Germline - 1/76 - - - DNA DHPLC - - ? - - based on AC012651.8 nt 39361 - - Germany - - - - - 1 Gabriele Dekomien
-/. 1 c.-719A>T r.(?) p.(=) Parent #1 - benign g.42651285A>T g.42359087A>T - - CAPN3_000176 - - - - Germline - 4/76 - - - DNA DHPLC - - ? - - based on AC012651.8 nt 39415 - - Germany - - - - - 4 Gabriele Dekomien
?/. 1 c.-552G>A r.(?) p.(=) Parent #1 - VUS g.42651452G>A g.42359254G>A - - CAPN3_000262 - PubMed: Todorova 2005 - - Germline - - - - - DNA SEQ - - ? - PubMed: Todorova 2005 potential promoter mutation M - Germany - - - - - 1 Lab Müller-Reible
?/. 1 c.-408T>C r.(?) p.? Parent #2 - VUS g.42651596T>C g.42359398T>C - - CAPN3_000049 - PubMed: Richard 1995 - - Germline - - - - - DNA HD, SEQ - - LGMD 07720071-M42 PubMed: Richard 1995 - - - France - - - - - 1 Johan den Dunnen
-/. 1 c.-408T>C r.(?) p.(=) Parent #1 - benign g.42651596T>C g.42359398T>C - - CAPN3_000049 - PubMed: Richard 1999 - - Germline - - - - - DNA SSCA - - ? - PubMed: Richard 1999 - - - - - - - - - 1 Johan den Dunnen
-/. 1 c.-408T>C r.(?) p.(=) Parent #1 - benign g.42651596T>C g.42359398T>C - - CAPN3_000049 - - - - Germline - 4/76 - - - DNA DHPLC - - ? - - - - - Germany - - - - - 4 Gabriele Dekomien
-/. 1 c.-322A>C r.(?) p.(=) Parent #1 - benign g.42651682A>C g.42359484A>C - - CAPN3_000175 - - - - Germline - 2/76 - - - DNA DHPLC - - ? - - - - - Germany - - - - - 2 Gabriele Dekomien
+/. _1_1i c.(?_-306)_(309+1_310-1)del r.0? p.0? Parent #1 - pathogenic g.(?_42651698)_(42652313_42676680)del - - - CAPN3_000447 exon 1 deletion, unknown variant 2nd allele - - - Germline - - - - - DNA PCR - - LGMD - - - - - (France) - - - - - 1 Nicolas Levy
-/. 1 c.-104G>C r.-104g>c p.(=) Parent #1 - benign g.42651900G>C g.42359702G>C - - CAPN3_000171 - - - - Germline - 3/76 - - - DNA DHPLC - - ? - - - - - Germany - - - - - 3 Gabriele Dekomien
?/. 1 c.-104G>C r.-104g>c p.= Parent #1 - VUS g.42651900G>C g.42359702G>C - - CAPN3_000171 - - - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - ? - - - M - - - - - - - 1 Rosetta Marotta
-?/. _1 - r.(?) p.(=) Paternal (confirmed) - likely benign g.42642385C>T g.42350187C>T - - CAPN3_000893 - PubMed: Macias 2021 - rs1358635511 Germline - - - - - DNA SEQ-NG - WES LGMD Pat214;A5(II1) PubMed: Fichna 2018, PubMed: Macias 2021 2-eneration family, affected sister/brother F - Poland - - - - - 2 Johan den Dunnen
-?/. - - r.(?) p.(=) Maternal (confirmed) - likely benign g.42642677A>G g.42350479A>G - - CAPN3_000893 - PubMed: Macias 2021 - rs118166665 Germline - - - - - DNA SEQ, SEQ-NG - WES LGMD A13(II12) PubMed: Macias 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Poland - - - - - 1 Johan den Dunnen
-?/. - - r.(?) p.(=) Paternal (confirmed) - likely benign g.42646392C>T g.42354194C>T - - CAPN3_000893 - PubMed: Macias 2021 - rs148085740 Germline - - - - - DNA SEQ, SEQ-NG - WES LGMD A13(II12) PubMed: Macias 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Poland - - - - - 1 Johan den Dunnen
-?/. - - r.(?) p.(=) Unknown - likely benign g.42651241C>G g.42359043C>G -763C>G - CAPN3_000177 - PubMed: Macias 2021 - rs140082921 Germline - - - - - DNA SEQ-NG - WES LGMD Pat160a;A9(II2) PubMed: Fichna 2018 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/ F - Poland - - - - - 2 Johan den Dunnen
+?/. 16i_24_ c.(1914+1_1915-1)_*544{0} r.? p.? Unknown - likely pathogenic g.(42700523_42701500)_(42704515_?)del g.(42408325_42409302)_(42412317_?)del chr15:42701501-?_42703971+?del - CAPN3_000879 no variant 2nd chromosome PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-246 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+/. 1i_24_ c.(309+1_310-1)_*544{0} r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(42652313_42676680)_(42704515_?)del - - - CAPN3_000445 originally scored as homozygous c.2115+4T>A Ginjaar WMS2008, PubMed: Ten Dam 2019 - - Germline - - - - - DNA DGGE, MLPA, SEQ - - LGMD - Ginjaar WMS2008, PubMed: Ten Dam 2019 - F - Netherlands - - - - - 1 Ieke Ginjaar
+/. - c.(?_310-252)_(1115+252_?del r.? p.? Parent #1 - pathogenic (recessive) g.(?_42676429)_(42686791_?)del - hg19 15:42676429-42686791 - CAPN3_000846 10362 kb deletion PubMed: Peric 2019 - - Germline - - - - - DNA SEQ - - LGMD Pat13 PubMed: Peric 2019 - F - Serbia - - - - - 1 Johan den Dunnen
+/. - c.-306_(309+252_?){0} r.? p.? Parent #1 - pathogenic (recessive) g.(?_42640049)_(42652564_?)del - chr15:42640049-42652564 - CAPN3_000844 12.5 kb deletion; combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 1 Johan den Dunnen
+/. _1_9i c.-306_1193+1_1194-1{0} r.0? p.0? Unknown - pathogenic (recessive) g.(?_42651698)_(42689076_42691689)del g.(?_42359500)_(42396878_42399491)del del_ex1-9 - CAPN3_000847 combination of variants not reported PubMed: Barp 2020 - - Germline - 1/57 cases - - - DNA SEQ - - LGMD - PubMed: Barp 2020 analysis 57 LGMD2A cases - - - - - - - - 1 Johan den Dunnen
+/. 5i c.? r.(?_802)_(945_?)del p.? Parent #2 - pathogenic g.? - - - CAPN3_000000 no expression of exon 6 sequences PubMed: Krahn 2007 - - Germline - - - - - DNA, RNA RT-PCR, DHPLC, SEQ - - LGMD - PubMed: Krahn 2007 - - - France - - - - - 1 Johan den Dunnen
+/. 5i c.? r.802_945del p.Asp268_Arg315del Parent #1 - pathogenic g.? - - - CAPN3_000000 DNA change not described (possibly c.802-?_945+?del) Stehlikova ESHG2009 P16.45 - - Germline - - - - - DNA SEQ - - LGMD - Stehlikova ESHG2009 P16.45 - - - Czech Republic - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic (recessive) g.? - c.25C>T (Q9Ter) - IGF1R_000000 - PubMed: Yu 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - candidate 420-gene panel LGMD P24 PubMed: Yu 2017 analysis 180 LGMD patients M - China - - - - - 1 Johan den Dunnen
+/. - c.? r.(?) p.? Paternal (confirmed) - pathogenic (recessive) g.? - c.1093A>T (I365F) - IGF1R_000000 - PubMed: Yu 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - candidate 420-gene panel LGMD P172 PubMed: Yu 2017 analysis 180 LGMD patients F - China - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Maternal (confirmed) - pathogenic (recessive) g.? - c.1829C>T (A610V) - IGF1R_000000 - PubMed: Yu 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - candidate 420-gene panel LGMD P172 PubMed: Yu 2017 analysis 180 LGMD patients F - China - - - - - 1 Johan den Dunnen
+/. - c.1A>G r.(?) p.(Met1?) Parent #1 - pathogenic (recessive) g.42652004A>G g.42359806A>G (Met1Val) - CAPN3_000933 - PubMed: Stehlikova 2014 - - Germline - - - - - DNA SEQ - - LGMD2 LGMD-Pat41 PubMed: Stehlikova 2014 - - - Czech Republic - - - - - 1 Johan den Dunnen
+?/. - c.7del r.(?) p.(Thr3Profs*54) Both (homozygous) - likely pathogenic (recessive) g.42652010del g.42359812del 7delA - CAPN3_000685 - PubMed: Izumi 2015, Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ, SEQ-NG - 42 gene panel MD Dys195-1 PubMed: Izumi 2015 - F - Egypt - - - - - 1 Johan den Dunnen
+/. 1 c.8C>A r.(?) p.(Thr3Asn) Parent #1 - pathogenic (recessive) g.42652011C>A g.42359813C>A - - CAPN3_000332 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - Finland - - - - - 1 Amets Sáenz
+/. 1 c.8C>A r.(?) p.(Thr3Asn) Parent #2 - pathogenic (recessive) g.42652011C>A g.42359813C>A - - CAPN3_000332 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - Finland - - - - - 1 Amets Sáenz
-/. 1 c.9C>T r.(?) p.(=) Parent #1 - benign g.42652012C>T g.42359814C>T - - CAPN3_000050 determined on >100 chromosomes PubMed: Richard 1999 - - Germline - <0.01 - - - DNA SSCA - - ? - PubMed: Richard 1999 - - - - - - - - - 1 Johan den Dunnen
+/. 1 c.10G>A r.(?) p.(Val4Ile) Parent #1 - pathogenic g.42652013G>A g.42359815G>A - - CAPN3_000051 - PubMed: Richard 1999 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Richard 1999 - - - Spain - - - - - 1 Johan den Dunnen
+/. 1 c.10G>A r.(?) p.(Val4Ile) Parent #1 - pathogenic (recessive) g.42652013G>A g.42359815G>A - - CAPN3_000051 - PubMed: Sáenz 2005 - - Germline - - - - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - Spain - - - - - 1 Amets Sáenz
?/. 1 c.10G>A r.(?) p.(Val4Ile) Parent #1 - VUS g.42652013G>A g.42359815G>A - - CAPN3_000051 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.10G>A r.(?) p.(Val4Ile) Unknown - VUS g.42652013G>A g.42359815G>A - - CAPN3_000051 - PubMed: Rini 2025, Journal: Rini 20251 - - Germline - - - - - DNA SEQ-NG - WES LGMD Pat1 PubMed: Rini 2025, Journal: Rini 20251 - - - Italy - - - - - 1 Johan den Dunnen
+/. 1 c.19_23del r.(?) p.(Ala7Cysfs*8) Parent #1 - pathogenic g.42652022_42652026del g.42359824_42359828del - - CAPN3_000020 - PubMed: Richard 1997, PubMed: Dincer 1997 - - Germline - - HpaII- - - DNA SEQ - - LGMD 09150160-T10 PubMed: Richard 1997, PubMed: Dincer 1997 4-generation family, parents 1st cousins, 1 affected M - Turkey - - - - - 1 Johan den Dunnen
+/. 1 c.19_23del r.(?) p.(Ala7Cysfs*8) Parent #2 - pathogenic g.42652022_42652026del g.42359824_42359828del - - CAPN3_000020 - PubMed: Richard 1997, PubMed: Dincer 1997 - - Germline - - HpaII- - - DNA SEQ - - LGMD 09150160-T10 PubMed: Richard 1997, PubMed: Dincer 1997 4-generation family, parents 1st cousins, 1 affected M - Turkey - - - - - 1 Johan den Dunnen
+?/. - c.19_23del r.(?) p.(Ala7CysfsTer8) Both (homozygous) ACMG likely pathogenic (recessive) g.42652022_42652026del g.42359824_42359828del 19_23delGCATC - CAPN3_000020 ACMG PVS1 PM2 PubMed: Cavdarli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel NMD D42 PubMed: Cavdarli 2023 analysis 146 neuromuscular disease patients M - Turkey - - - - - 1 Johan den Dunnen
+?/. - c.19_23del r.(?) p.(Ala7CysfsTer8) Both (homozygous) ACMG likely pathogenic (recessive) g.42652022_42652026del g.42359824_42359828del c.19_23delGCATC - CAPN3_000020 ACMG PVS1 PM2 PubMed: Cavdarli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 47-gene panel MD D42 PubMed: Cavdarli 2023 analysis 67 patients muscular dystrophy/myopathy (not DMD) M - Turkey - - - - - 1 Johan den Dunnen
+/. 1 c.19_23del r.(?) p.(Ala7CysfsTer8) Both (homozygous) - pathogenic (recessive) g.42652022_42652026del g.42359824_42359828del - - CAPN3_000020 - PubMed: Balci 2006 - - Germline - - - - - DNA SEQ - - LGMD2 Pat2 PubMed: Balci 2006 - M yes Turkey - - - - - 1 Pervin Dincer
?/. 1 c.41C>T r.(?) p.A14V Parent #1 - VUS g.42652044C>T g.42359846C>T - - CAPN3_000562 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. - c.55+1G>A r.spl p.? Paternal (confirmed) - pathogenic (recessive) g.42652059G>A g.42359861G>A - - CAPN3_000724 Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Yu 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - candidate 420-gene panel LGMD P138 PubMed: Yu 2017 analysis 180 LGMD patients M - China - - - - - 1 Johan den Dunnen
+/. 1 c.59del r.(?) p.(Pro20Glnfs*37) Paternal (inferred) - pathogenic g.42652062del g.42359864del 59delC - CAPN3_000530 - - - - Germline yes - - - - DNA SEQ - - LGMD - - - F - (Italy) white - - - - 1 Marina Fanin
+/. 1 c.59del r.(?) p.(Pro20Glnfs*37) Maternal (inferred) - pathogenic g.42652062del g.42359864del 59delC - CAPN3_000530 - - - - Germline yes - - - - DNA SEQ - - LGMD - - - F - (Italy) white - - - - 1 Marina Fanin
+/. 1 c.59del r.(?) p.(Pro20Glnfs*37) Unknown - pathogenic (recessive) g.42652062del g.42359864del - - CAPN3_000530 combination of variants not reported PubMed: Barp 2020 - - Germline - 2/57 cases - - - DNA SEQ - - LGMD - PubMed: Barp 2020 analysis 57 LGMD2A cases - - - - - - - - 2 Johan den Dunnen
+/. 1 c.60del r.(?) p.(Pro22Glnfs*35) Both (homozygous) - pathogenic (recessive) g.42652063del g.42359865del 60delA - CAPN3_000052 - Ginjaar WMS2005, PubMed: Ten Dam 2019 - - Germline - - BsrI+ - - DNA DGGE - - LGMD - Ginjaar WMS2005, PubMed: Ten Dam 2019 - F - Netherlands - - - - - 1 Ieke Ginjaar
+/. 1 c.60del r.(?) p.(Pro22Glnfs*35) Parent #1 - pathogenic (recessive) g.42652063del g.42359865del 60delA - CAPN3_000052 - PubMed: Sáenz 2005 - - Germline - - BsrI+ - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - Spain - - - - - 1 Amets Sáenz
+/. 1 c.60del r.(?) p.(Pro22Glnfs*35) Parent #1 - pathogenic g.42652063del g.42359865del 60delA - CAPN3_000052 - PubMed: Richard 1999 - - Germline - - AvaII+ - - DNA SSCA - - LGMD - PubMed: Richard 1999 - - - Spain - - - - - 1 Johan den Dunnen
+/. 1 c.60del r.(?) p.(Pro22Glnfs*35) Parent #1 - pathogenic g.42652063del g.42359865del 60delA - CAPN3_000052 - PubMed: de Paula - - Germline - - BbvI+ - - DNA SSCA, DHPLC - - LGMD - PubMed: de Paula affecteds 2F, 2M F - Brazil - - - - - 4 Johan den Dunnen
+/. 1 c.60del r.(?) p.(Pro22Glnfs*35) Parent #2 - pathogenic (recessive) g.42652063del g.42359865del 60delA - CAPN3_000052 - PubMed: Sáenz 2005 - - Germline - - BsrI+ - - DNA SSCA - - LGMD - PubMed: Sáenz 2005 - - - Spain - - - - - 1 Amets Sáenz
+?/. - c.60delA r.(?) p.(Pro22Glnfs*35) Unknown - likely pathogenic (recessive) g.42652063delA - c.[1027G>T(;)60delA]; p.[(Glu343*)(;)(Asp591Ilefs*4)] - CAPN3_000916 - PubMed: Escobar-Cedillo 2021 - - Germline - - - - - DNA SEQ-NG Blood - LGMD - PubMed: Escobar-Cedillo 2021 - F - Mexico Mexican-mestizo - - - - 1 Luz Berenice Lopez-Hernandez
?/. 1 c.61G>T r.(?) p.(Gly21Trp) Parent #1 - VUS g.42652064G>T g.42359866G>T - - CAPN3_000563 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1 c.62G>A r.(?) p.(Gly21Glu) Parent #2 - pathogenic g.42652065G>A g.42359867G>A - - CAPN3_000265 - - - - Germline - - - - - DNA SEQ - - LGMD - - - F - Germany - - - - - 1 Lab Müller-Reible
?/. 1 c.62G>A r.(?) p.(Gly21Glu) Unknown - VUS g.42652065G>A g.42359867G>A - - CAPN3_000265 - - - - Germline - - - - - DNA SEQ - - LGMD - - distal beginning LGMD M - (Germany) European - - - - 1 Lab Müller-Reible
-/. 1 c.62G>A r.(?) p.(Gly21Glu) Unknown - benign g.42652065G>A g.42359867G>A - - CAPN3_000265 from website {DBsub-Emory} - - - Unknown - - - - - DNA SEQ - - ? Emory-? - - - - (United States) - - - - - 1 Madhuri Hegde
-?/. - c.62G>A r.(?) p.(Gly21Glu) Unknown - likely benign g.42652065G>A g.42359867G>A CAPN3(NM_000070.2):c.62G>A (p.(Gly21Glu)) - CAPN3_000265 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.70_71del r.(?) p.(Pro24Serfs*9) Both (homozygous) - pathogenic (recessive) g.42652073_42652074del g.42359875_42359876del - - CAPN3_000742 - PubMed: Zhong 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - LGMD Pat118 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.70_71del r.(?) p.(Pro24Serfs*9) Parent #1 - pathogenic (recessive) g.42652073_42652074del g.42359875_42359876del - - CAPN3_000742 - PubMed: Zhong 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - LGMD Pat78 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. - c.70_71del r.(?) p.(Pro24Serfs*9) Parent #2 - pathogenic (recessive) g.42652073_42652074del g.42359875_42359876del - - CAPN3_000742 - PubMed: Zhong 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - LGMD Pat77 PubMed: Zhong 2021 analysis 124 patients - - China Han - - - - 1 Huahua Zhong
+/. 1 c.77C>T r.(?) p.(Pro26Leu) Parent #1 - pathogenic g.42652080C>T g.42359882C>T - - CAPN3_000053 - PubMed: Richard 1999 - - Germline - - NlaIV- - - DNA SEQ - - LGMD - PubMed: Richard 1999 - - - Italy - - - - - 1 Johan den Dunnen
+/. 1 c.77C>T r.(?) p.(Pro26Leu) Parent #1 - pathogenic g.42652080C>T g.42359882C>T - - CAPN3_000053 - PubMed: Piluso 2005 - - Germline - - NsiI-;BspHi+ - - DNA DHPLC - - LGMD - PubMed: Piluso 2005 - F - Italy - - - - - 1 Johan den Dunnen
+/. 1 c.77C>T r.(?) p.(Pro26Leu) Parent #1 - pathogenic g.42652080C>T g.42359882C>T - - CAPN3_000053 - PubMed: Guglieri 2008 - - Germline - - NlaIV- - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 relative of 14663034b-XXXII.2 F - Italy - >43y - - - 1 Johan den Dunnen
+/. 1 c.77C>T r.(?) p.(Pro26Leu) Parent #1 - pathogenic g.42652080C>T g.42359882C>T - - CAPN3_000053 - PubMed: Guglieri 2008 - - Germline - - NlaIV- - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 relative of 14663034b-XXXII.1 M - Italy - >45y - - - 1 Johan den Dunnen
?/. 1 c.77C>T r.(?) p.(Pro26Leu) Parent #1 - VUS g.42652080C>T g.42359882C>T - - CAPN3_000053 no second variant in CAPN3 PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
-/. 1 c.78G>A r.(?) p.(=) Unknown - benign g.42652081G>A g.42359883G>A - - CAPN3_000513 from website {DBsub-Emory} - - - Unknown - - - - - DNA SEQ - - ? Emory-? - - - - (United States) - - - - - 1 Madhuri Hegde
-?/. - c.78G>A r.(?) p.(Pro26=) Unknown - likely benign g.42652081G>A - CAPN3(NM_000070.2):c.78G>A (p.(Pro26=)) - CAPN3_000513 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.87C>G r.(?) p.(Ser29Arg) Parent #1 - VUS g.42652090C>G g.42359892C>G - - CAPN3_000564 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
-/. - c.96T>C r.(?) p.(Thr32=) Unknown - benign g.42652099T>C g.42359901T>C CAPN3(NM_000070.3):c.96T>C (p.T32=) - CAPN3_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1 c.96T>C r.(?) p.(=) Parent #2 - likely benign g.42652099T>C g.42359901T>C - - CAPN3_000061 - - - rs1801496 Germline - - - - - DNA SEQ - - LGMD - - - M - Germany - - - - - 1 Lab Müller-Reible
-?/. 1 c.96T>C r.(?) p.(=) Parent #1 - likely benign g.42652099T>C g.42359901T>C - - CAPN3_000061 - - - rs1801496 Germline - - - - - DNA SEQ - - LGMD - - - F - Germany - - - - - 1 Lab Müller-Reible
-?/. 1 c.96T>C r.(?) p.(=) Parent #1 - likely benign g.42652099T>C g.42359901T>C - - CAPN3_000061 - - - rs1801496 Germline - - - - - DNA SEQ - - ? - - - M - Germany - - - - - 1 Lab Müller-Reible
-/. 1 c.96T>C r.(?) p.(=) Parent #1 - benign g.42652099T>C g.42359901T>C - - CAPN3_000061 - PubMed: Richard 1995 - rs1801496 Germline - - HhaI-;AluI+ - - DNA HD, SEQ - - LGMD 07720071-M31 PubMed: Richard 1995 - - - France - - - - - 1 Johan den Dunnen
-/. 1 c.96T>C r.(?) p.(=) Parent #1 - benign g.42652099T>C g.42359901T>C - - CAPN3_000061 - PubMed: Piluso 2005 - rs1801496 Germline - - HaeIII- - - DNA SEQ - - ? - PubMed: Piluso 2005 - - - Italy - - - - - 1 Johan den Dunnen
-/. 1 c.96T>C r.(?) p.(=) Parent #1 - benign g.42652099T>C g.42359901T>C - - CAPN3_000061 - PubMed: Saenz 2005 - rs1801496 Germline - 0.12 HhaI-;AluI+ - - DNA SEQ - - ? - PubMed: Saenz 2005 - - - Spain - - - - - 1 Johan den Dunnen
-/. 1 c.96T>C r.(?) p.(=) Parent #1 - benign g.42652099T>C g.42359901T>C - - CAPN3_000061 - - - rs1801496 Germline - - HhaI-;HgiaI+ - - DNA SEQ - - ? - - - - - Netherlands - - - - - 26 Ieke Ginjaar
-/. 1 c.96T>C r.(?) p.(=) Parent #1 - benign g.42652099T>C g.42359901T>C - - CAPN3_000061 - PubMed: Krahn 2006 - rs1801496 Germline - 11/42 HhaI-;HgiaI+ - - DNA DHPLC, SEQ - - LGMD - PubMed: Krahn 2006 - - - France - - - - - 11 Johan den Dunnen
-?/. 1 c.96T>C r.(?) p.(=) Unknown - likely benign g.42652099T>C g.42359901T>C - - CAPN3_000061 - - - rs1801496 Germline - - - - - DNA SEQ - - MD - - - F - - - - - - - 1 Rosetta Marotta
-/. 1 c.96T>C r.(?) p.(=) Unknown - benign g.42652099T>C g.42359901T>C - - CAPN3_000061 from website {DBsub-Emory} - - rs1801496 Unknown - - - - - DNA SEQ - - ? Emory-? - - - - (United States) - - - - - 1 Madhuri Hegde
?/. 1 c.96T>C r.(?) p.(=) Unknown - VUS g.42652099T>C g.42359901T>C - - CAPN3_000061 - - - rs1801496 Unknown - - - - - DNA SEQ - - LGMD - Pathak P 2009 - M no India - - - - - 1 Pankaj Pathak
-/. - c.96T>C r.(?) p.(Thr32=) Unknown - benign g.42652099T>C g.42359901T>C CAPN3(NM_000070.3):c.96T>C (p.T32=) - CAPN3_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.96T>C r.? p.(Thr32=) Unknown - VUS g.42652099T>C g.42359901T>C - - CAPN3_000061 combination of variants not reported PubMed: Barp 2020 - - Germline - 1/57 cases - - - DNA SEQ - - LGMD - PubMed: Barp 2020 analysis 57 LGMD2A cases - - - - - - - - 1 Johan den Dunnen
+/. 1 c.100del r.(?) p.(Ala34fs*23) Parent #2 - pathogenic g.42652103del g.42359905del 100delG - CAPN3_000165 - PubMed: Fanin 2004, PubMed: Pizzanelli 2006 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Fanin 2004, PubMed: Pizzanelli 2006 - F - China - - - - - 1 Marina Fanin
+/. 1 c.107del r.(?) p.(Gly36Valfs*21) Both (homozygous) ACMG pathogenic (recessive) g.42652110del g.42359912del 107delG - CAPN3_000908 ACMG PVS1, PM2, PM3, PP4_mod PubMed: Cerino 2022 - - Germline yes - - - - DNA SEQ-NG-I blood 306 NGS Neuromusucular Panel LGMDR1;LGMD2A P8/Myo050 PubMed: Cerino 2022 - M no Chile hispanic - - - - 1 JA Bevilacqua
+/. 1 c.107del r.(?) p.(Gly36Valfs*21) Maternal (confirmed) ACMG pathogenic (recessive) g.42652110del g.42359912del 107delG - CAPN3_000908 ACMG PVS1, PM2, PM3, PP4_mod PubMed: Cerino 2022 - - Germline yes - - - - DNA SEQ-NG-I blood Myopanel2 306 NM genes panel LGMDR1;LGMD2A P14/Myo057 PubMed: Cerino 2022 - F no Chile Hispanic - - - - 1 JA Bevilacqua
+/. - c.107del r.(?) p.(Gly36Valfs*21) Unknown - pathogenic (!) g.42652110del g.42359912del 107delG - CAPN3_000921 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - LGMDR1;LGMD2A - - - - - - - - - - - 1 Gisela Gaina
+/. - c.107del r.(?) p.(Gly36Valfs*21) Parent #2 - pathogenic (recessive) g.42652110del g.42359912del 107delG - CAPN3_000908 ACMG PVS1, PM2, PM3, PP4_mod PubMed: Cerino 2022 - - Germline - - - - - DNA SEQ blood - LGMDR1;LGMD2A P37/Myo100 PubMed: Cerino 2022 - M no Chile - - - - - 1 JA Bevilacqua
+/. 1 c.133G>A r.133g>a p.Ala45Thr Parent #1 - pathogenic g.42652136G>A g.42359938G>A - - CAPN3_000167 - PubMed: Chrobakova, PubMed: Hermanova 2005, PubMed: Stehlikova 2007 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, DHPLC - - LGMD Pat1/3 PubMed: Chrobakova, PubMed: Hermanova 2005, PubMed: Stehlikova 2007 - M - Czech Republic - >48y - - - 1 Johan den Dunnen
+/. 1 c.133G>A r.133g>a p.Ala45Thr Parent #2 - pathogenic g.42652136G>A g.42359938G>A - - CAPN3_000167 - PubMed: Chrobakova, PubMed: Hermanova 2005, PubMed: Stehlikova 2007 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, DHPLC - - LGMD Pat1/3 PubMed: Chrobakova, PubMed: Hermanova 2005, PubMed: Stehlikova 2007 - M - Czech Republic - >48y - - - 1 Johan den Dunnen
?/. 1 c.133G>A r.(?) p.(Ala45Thr) Parent #1 - VUS g.42652136G>A g.42359938G>A - - CAPN3_000167 - - - - Germline - - - - - DNA SEQ - - LGMD - - - - - - - - - - - 1 Ieke Ginjaar
+/. 1 c.133G>A r.(?) p.(Ala45Thr) Parent #2 - pathogenic g.42652136G>A g.42359938G>A - - CAPN3_000167 - - - - Germline - - - - - DNA SEQ - - LGMD - - - F - Germany - - - - - 1 Lab Müller-Reible
+/. 1 c.133G>A r.(?) p.(Ala45Thr) Parent #2 - pathogenic g.42652136G>A g.42359938G>A - - CAPN3_000167 - PubMed: Krahn 2006 - - Germline - - - - - DNA DHPLC - - LGMD Pat63 PubMed: Krahn 2006, OMIM:var0006 - F - France - - - - - 1 Johan den Dunnen
+/. 1 c.133G>A r.(?) p.(Ala45Thr) Parent #1 - pathogenic g.42652136G>A g.42359938G>A - - CAPN3_000167 - PubMed: Groen 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Groen 2007 - M - United Kingdom (Great Britain) - - - - - 1 Ann Curtis
+/. 1 c.133G>A r.(?) p.(Ala45Thr) Parent #2 - pathogenic g.42652136G>A g.42359938G>A - - CAPN3_000167 - PubMed: Groen 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Groen 2007 - M - United Kingdom (Great Britain) - - - - - 1 Ann Curtis
+/. 1 c.133G>A r.(?) p.(Ala45Thr) Parent #1 - pathogenic g.42652136G>A g.42359938G>A - - CAPN3_000167 - PubMed: Groen 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Groen 2007 - F - United Kingdom (Great Britain) - - - - - 1 Ann Curtis
+/. 1 c.133G>A r.(?) p.(Ala45Thr) Parent #1 - pathogenic g.42652136G>A g.42359938G>A - - CAPN3_000167 - PubMed: Groen 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Groen 2007 - M - United Kingdom (Great Britain) - - - - - 1 Ann Curtis
+/. 1 c.133G>A r.(?) p.(Ala45Thr) Parent #1 - pathogenic g.42652136G>A g.42359938G>A - - CAPN3_000167 - PubMed: Groen 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Groen 2007 - F - United Kingdom (Great Britain) - - - - - 1 Ann Curtis
+/. 1 c.133G>A r.(?) p.(Ala45Thr) Unknown - pathogenic g.42652136G>A g.42359938G>A - - CAPN3_000167 from website {DBsub-Emory} - - - Unknown - - - - - DNA SEQ - - ? Emory-? - - - - (United States) - - - - - 1 Madhuri Hegde
+/. - c.133G>A r.(?) p.(Ala45Thr) Both (homozygous) - pathogenic (recessive) g.42652136G>A g.42359938G>A - - CAPN3_000167 - PubMed: Stehlikova 2014 - - Germline - - - - - DNA SEQ - - LGMD2 LGMD-Pat42 PubMed: Stehlikova 2014 - - - Czech Republic - - - - - 1 Johan den Dunnen
?/. 1 c.139A>T r.(?) p.(Ile47Phe) Unknown - VUS g.42652142A>T g.42359944A>T - - CAPN3_000531 - - - - Unknown - - - - - DNA SEQ - - LGMD - - - M - - white - - - - 1 Marina Fanin
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