Unique variants in 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.

663 entries on 7 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
-/. 1 1 c.-763C>G benign r.(?) p.(=) g.42651241C>G - - - CAPN3_000177 - - - - Germline - 1/76 - - - Gabriele Dekomien
-/. 1 1 c.-719A>T benign r.(?) p.(=) g.42651285A>T - - - CAPN3_000176 - - - - Germline - 4/76 - - - Gabriele Dekomien
?/. 1 1 c.-552G>A VUS r.(?) p.(=) g.42651452G>A - - - CAPN3_000262 - PubMed: Todorova 2005 - - Germline - - - - - Lab Müller-Reible
?/., -/. 3 1 c.-408T>C VUS, benign r.(?) p.?, p.(=) g.42651596T>C - - - CAPN3_000049 - PubMed: Richard 1995, PubMed: Richard 1999 - - Germline - 4/76 - - - Johan den Dunnen, Gabriele Dekomien
-/. 1 1 c.-322A>C benign r.(?) p.(=) g.42651682A>C - - - CAPN3_000175 - - - - Germline - 2/76 - - - Gabriele Dekomien
+/. 1 _1_1i c.(?_-306)_(309+1_310-1)del pathogenic r.0? p.0? g.(?_42651698)_(42652313_42676680)del - - - CAPN3_000447 exon 1 deletion, unknown variant 2nd allele - - - Germline - - - - - Nicolas Levy
?/., -/. 2 1 c.-104G>C VUS, benign r.-104g>c p.=, p.(=) g.42651900G>C - - - CAPN3_000171 - - - - Germline - 3/76 - - - Rosetta Marotta, Gabriele Dekomien
?/. 1 10 c.(1327T>C) VUS r.1327u>c p.Ser443Pro g.42691823T>C - - - CAPN3_000349 - - - - Germline - - - - - Maria Chiotis
+/. 2 5i c.? pathogenic r.(?_802)_(945_?)del, r.802_945del p.?, p.Asp268_Arg315del g.? - - - CAPN3_000000 no expression of exon 6 sequences, DNA change not described (possibly c.802-?_945+?del) PubMed: Krahn 2007, Stehlikova ESHG2009 P16.45 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.7del likely pathogenic (recessive) r.(?) p.(Thr3Profs*54) g.42652010del g.42359812del 7delA - CAPN3_000685 - PubMed: Izumi 2015 - - Germline - - - - - Johan den Dunnen
+/. 2 1 c.8C>A pathogenic r.(?) p.(Thr3Asn) g.42652011C>A - - - CAPN3_000332 - - - - Germline - - - - - Amets Sáenz
-/. 1 1 c.9C>T benign r.(?) p.(=) g.42652012C>T - - - CAPN3_000050 determined on >100 chromosomes PubMed: Richard 1999 - - Germline - <0.01 - - - Johan den Dunnen
?/., +/. 3 1 c.10G>A VUS, pathogenic r.(?) p.(Val4Ile) g.42652013G>A - - - CAPN3_000051 - PubMed: Nallamilli 2018, PubMed: Richard 1999 - - Germline - - - - - Madhuri Hegde, Johan den Dunnen, Amets Sáenz
+/. 2 1 c.19_23del pathogenic r.(?) p.(Ala7Cysfs*8) g.42652022_42652026del - - - CAPN3_000020 - PubMed: Richard 1997, PubMed: Dincer 1997 - - Germline - - HpaII- - - Johan den Dunnen
+?/. 1 - c.40G>A likely pathogenic (recessive) r.(?) p.(Val14Ile) g.8775602G>A g.8733916G>A - - CAV3_000067 - PubMed: Izumi 2015 - rs121909281 Germline - - - - - Johan den Dunnen
?/. 1 1 c.41C>T VUS r.(?) p.A14V g.42652044C>T - - - CAPN3_000562 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 2 1 c.59del pathogenic r.(?) p.(Pro20Glnfs*37) g.42652062del - 59delC - CAPN3_000530 - - - - Germline yes - - - - Marina Fanin
+/. 6 1 c.60del pathogenic r.(?) p.(Pro22Glnfs*35) g.42652063del - 60delA - CAPN3_000052 - Ginjaar WMS2005, PubMed: Richard 1999, PubMed: de Paula - - Germline - - BsrI+, AvaII+, BbvI+ - - Ieke Ginjaar, Amets Sáenz, Johan den Dunnen
?/. 1 1 c.61G>T VUS r.(?) p.(Gly21Trp) g.42652064G>T - - - CAPN3_000563 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/., +/., -/., -?/. 4 1 c.62G>A VUS, pathogenic, benign, likely benign r.(?) p.(Gly21Glu) g.42652065G>A - CAPN3(NM_000070.2):c.62G>A (p.(Gly21Glu)) - CAPN3_000265 from website {DBsub-Emory}, VKGL data sharing initiative Nederland - - - Germline, Unknown, CLASSIFICATION record - - - - - Lab Müller-Reible, Madhuri Hegde, VKGL-NL
?/., +/. 5 1 c.77C>T VUS, pathogenic r.(?) p.(Pro26Leu) g.42652080C>T - - - CAPN3_000053 no second variant in CAPN3 PubMed: Nallamilli 2018, PubMed: Richard 1999, PubMed: Piluso 2005, PubMed: Guglieri 2007 - - Germline - - NlaIV-, NsiI-;BspHi+ - - Madhuri Hegde, Johan den Dunnen
-/. 1 1 c.78G>A benign r.(?) p.(=) g.42652081G>A - - - CAPN3_000513 from website {DBsub-Emory} - - - Unknown - - - - - Madhuri Hegde
?/. 1 1 c.87C>G VUS r.(?) p.(Ser29Arg) g.42652090C>G - - - CAPN3_000564 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/., -/., ?/. 12 1 c.96T>C likely benign, benign, VUS r.(?) p.(=) g.42652099T>C - CAPN3(NM_000070.2):c.96T>C (p.=) - CAPN3_000061 VKGL data sharing initiative Nederland, from website {DBsub-Emory} PubMed: Richard 1995, PubMed: Piluso 2005, PubMed: Saenz 2005, PubMed: Krahn 2006 - rs1801496 Germline, CLASSIFICATION record, Unknown - 0.12, 11/42 HhaI-;AluI+, HaeIII-, HhaI-;HgiaI+ - - Lab Müller-Reible, VKGL-NL, Rosetta Marotta, Madhuri Hegde, Johan den Dunnen, Pankaj Pathak, Ieke Ginjaar
+/. 1 1 c.100del pathogenic r.(?) p.(Ala34fs*23) g.42652103del - 100delG - CAPN3_000165 - PubMed: Fanin 2004, PubMed: Pizzanelli 2006 - - Germline - - - - - Marina Fanin
+/., ?/. 11 1 c.133G>A pathogenic, VUS r.133g>a, r.(?) p.Ala45Thr, p.(Ala45Thr) g.42652136G>A - - - CAPN3_000167 from website {DBsub-Emory} PubMed: Chrobakova, PubMed: Hermanova 2005, PubMed: Stehlikova 2007, PubMed: Groen 2007, 1 more item - - Germline, Unknown - - - - - Johan den Dunnen, Ann Curtis, Lab Müller-Reible, Madhuri Hegde, Ieke Ginjaar
?/. 1 1 c.139A>T VUS r.(?) p.(Ile47Phe) g.42652142A>T - - - CAPN3_000531 - - - - Unknown - - - - - Marina Fanin
+/. 11 1 c.140_142del pathogenic r.(?) p.(Ile47del) g.42652143_42652145del - - - CAPN3_000193 - PubMed: Piluso 2005, PubMed: Fanin 2005 + PubMed: Piluso 2005, PubMed: Krahn 2006 - - Germline - - - - - Amets Sáenz, Marina Fanin, Johan den Dunnen
+/. 1 1 c.143G>A pathogenic r.(?) p.(Ser48Asn) g.42652146G>A - - - CAPN3_000201 - PubMed: Fanin 2004 + PubMed: Piluso 2005 - - Germline - - - - - Marina Fanin
+/. 11 1 c.145C>T pathogenic r.(?) p.(Arg49Cys) g.42652148C>T - - - CAPN3_000263 2 Variants detected in CAPN3, no second variant PubMed: Nallamilli 2018, PubMed: Groen 2007 - - Germline, Unknown - - - - - Madhuri Hegde, Lab Müller-Reible, Tom Winder, Ann Curtis
+/., +?/. 9 1 c.146G>A pathogenic, ACMG: 4, ACMG: 5 r.(?) p.(Arg49His) g.42652149G>A g.42359951G>A - - CAPN3_000190 ACMG PM2, PM5, PP3, PP5, ACMG PP1-S, PM2, PM3, PP1-M, PP1, PP2, PP3, PP4 PubMed: Piluso 2005, PubMed: Özyilmaz 2019, PubMed: Monies 2016, PubMed: Krahn 2006, 2 more items - rs863224958 Germline - - - - - Johan den Dunnen, Lab Müller-Reible
+/. 5 1 c.149A>G pathogenic r.(?) p.(Asn50Ser) g.42652152A>G - - - CAPN3_000303 - PubMed: Krahn 2006 - - Germline - - - - - Amets Sáenz, Johan den Dunnen
?/. 1 1 c.157A>G VUS r.(?) p.(Ile53Val) g.42652160A>G - - - CAPN3_000565 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 2 1 c.163G>A VUS r.(?) p.(Gly55Arg) g.42652166G>A - CAPN3(NM_000070.2):c.163G>A (p.G55R) - CAPN3_000239 VKGL data sharing initiative Nederland PubMed: Piluso 2005 - - Germline, CLASSIFICATION record - - - - - Johan den Dunnen, VKGL-NL
+/. 1 1 c.193C>G pathogenic r.(?) p.(His65Asp) g.42652196C>G - - - CAPN3_000412 - PubMed: Groen 2007 - - Germline - - - - - Ann Curtis
+/. 4 1 c.206T>C pathogenic r.(?) p.(Leu69Pro) g.42652209T>C - - - CAPN3_000312 - - - - Germline - - - - - Amets Sáenz
+?/., +/. 4 1 c.223dup likely pathogenic, pathogenic r.(?) p.(Tyr75Leufs*5) g.42652226dup - 223dupT - CAPN3_000537 2 variants detected in CAPN3 PubMed: Nallamilli 2018 - - Germline - - - - - Jaya Punetha, Madhuri Hegde
?/., +/. 3 1 c.224A>G VUS, pathogenic r.(?), r.224a>g p.(Tyr75Cys), p.Tyr75Cys g.42652227A>G - - - CAPN3_000371 - PubMed: Nallamilli 2018, PubMed: Stehlikova 2007 - - Germline - - - - - Madhuri Hegde, Johan den Dunnen
+/. 2 1 c.225dup pathogenic r.(?) p.(Val76Cysfs*4) g.42652228dup - 225dupT - CAPN3_000054 - PubMed: Richard 1999, PubMed: Krahn 2006 - - Germline - - - - - Johan den Dunnen
+/. 9 1 c.229G>A pathogenic r.(?) p.(Asp77Asn) g.42652232G>A - - - CAPN3_000056 - PubMed: Fanin 2004 + PubMed: Piluso 2005, PubMed: Richard 1999, PubMed: Piluso 2005, 3 more items - - Germline - - Cfr10I-;NspBII+, AvaII-, Cfr10I- - - Marina Fanin, Johan den Dunnen, Amets Sáenz
+?/., ?/. 4 1 c.232C>A likely pathogenic, VUS r.(?) p.(Pro78Thr) g.42652235C>A - CAPN3(NM_000070.2):c.232C>A (p.(Pro78Thr)) - CAPN3_000444 no second variant, VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - Germline, CLASSIFICATION record - - - - - Lab Müller-Reible, Madhuri Hegde, VKGL-NL
?/. 1 1 c.235G>C VUS r.(?) p.(Glu79Gln) g.42652238G>C - - - CAPN3_000532 - - - - Unknown - - - - - Marina Fanin
+/. 4 1 c.240C>G pathogenic r.(?) p.(Phe80Leu) g.42652243C>G - - - CAPN3_000429 control chromosomes PubMed: Guglieri 2007 - - Germline - 0/320 - - - Johan den Dunnen
+/., ?/., +?/. 36 1 c.245C>T pathogenic, VUS, ACMG: 5, likely pathogenic r.(?), r.245c>u p.(Pro82Leu), p.Pro82Leu g.42652248C>T - CAPN3(NM_000070.2):c.245C>T (p.(Pro82Leu)) - CAPN3_000143 consistent with diagnosis LGMD, no second variant, unknown variant 2nd chromosome, 2 more items PubMed: Nallamilli 2018, PubMed: Piluso 2005, PubMed: Hermanova 2005, Stehlikova ESHG2009 P16.45, 10 more items - - Germline, CLASSIFICATION record - - MspI, MspI-, -, NciI- - - Madhuri Hegde, Johan den Dunnen, Tom Winder, Jana Sedlackova, Lab Müller-Reible, Marina Fanin, Tom Winder, Amets Sáenz, VKGL-NL
+/., -/., ?/. 4 1 c.246G>A pathogenic, benign, VUS r.(?) p.(=) g.42652249G>A - - - CAPN3_000379 from website {DBsub-Emory} PubMed: Groen 2007, PubMed: Krahn 2006 - - Unknown, Germline - - - - - Madhuri Hegde, Ann Curtis, Johan den Dunnen
+/. 2 1 c.249_253del pathogenic r.(?) p.(Glu84Leufs*5) g.42652252_42652256del - - - CAPN3_000192 - PubMed: Piluso 2005 - - Germline - - - - - Johan den Dunnen
+/. 7 1 c.257C>T pathogenic (dominant) r.257c>u p.Ser86Phe g.42652260C>T - - - CAPN3_000021 - PubMed: Richard 1997, OMIM:var0004 - - Germline - - - - - Johan den Dunnen
+/. 11 1 c.258dup pathogenic r.(?) p.(Leu87Serfs*4) g.42652261dup - 258dupT - CAPN3_000380 variant apparently homozygous, no second variant PubMed: Nallamilli 2018, PubMed: Groen 2007, PubMed: Krahn 2006 - - Germline - - - - - Madhuri Hegde, Tom Winder, Ann Curtis, Johan den Dunnen
+/. 1 1 c.259C>G pathogenic r.(?) p.(Leu87Val) g.42652262C>G - - - CAPN3_000219 - PubMed: Piluso 2005 - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.260dup pathogenic r.(?) p.(p.(Phe88Leufs*3) g.42652263dup - 260dupT - CAPN3_000370 - PubMed: Fanin 2004 - - Germline - - - - - Marina Fanin
+/. 2 1 c.260_265delinsGA pathogenic r.(?) p.(Leu87Argfs*39) g.42652263_42652268delinsGA - - - CAPN3_000144 - PubMed: de Paula - - Germline - - - - - Johan den Dunnen
?/. 4 1 c.264T>G VUS r.(?) p.(Phe88Leu) g.42652267T>G - - - CAPN3_000566 variant apparently homozygous, no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-/. 1 1 c.266A>G benign r.(?) p.(Tyr89Cys) g.42652269A>G - - - CAPN3_000536 - - - - Unknown - - - - - Marina Fanin
+/. 2 1 c.277_300del pathogenic r.(?) p.(Phe93_Lys100del) g.42652280_42652303del - - - CAPN3_000057 - PubMed: Richard 1999 - rs1801631 Germline - - - - - Johan den Dunnen
+/. 2 1 c.286del pathogenic r.(?) p.(Gln96Serfs*31) g.42652289del - 286delC - CAPN3_000420 control chromosomes PubMed: Guglieri 2007 - - Germline - 0/320 - - - Johan den Dunnen
?/. 1 1 c.288G>T VUS r.(?) p.(Gln96His) g.42652291G>T - - - CAPN3_000567 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 2 1 c.291C>A pathogenic (recessive), pathogenic r.(?) p.(Phe97Leu) g.42652294C>A g.42360096C>A - - CAPN3_000264 - PubMed: Mojbafan 2018 - - Germline yes - - - - Johan den Dunnen, Lab Müller-Reible
?/. 1 1 c.292G>A VUS r.(?) p.(Val98Ile) g.42652295G>A - - - CAPN3_000240 - PubMed: Piluso 2005 - - Germline - - - - - Johan den Dunnen
?/. 1 1 c.294C>G VUS r.(?) p.(=) g.42652297C>G - - - CAPN3_000514 from website {DBsub-Emory} - - - Unknown - - - - - Madhuri Hegde
+/. 2 1 c.302G>A pathogenic r.(?) p.(Arg101Lys) g.42652305G>A - - - CAPN3_000317 - PubMed: Krahn 2006 - - Germline - - - - - Amets Sáenz, Johan den Dunnen
+/. 1 1 c.304C>T pathogenic r.(?) p.(Pro102Ser) g.42652307C>T - - - CAPN3_000220 - PubMed: Piluso 2005 - - Germline - - - - - Johan den Dunnen
?/., +?/. 2 1 c.305C>T VUS, ACMG: 4 r.(?) p.(Pro102Leu) g.42652308C>T - - - CAPN3_000557 ACMG grading: PM1, PM2, PP2, PP3; additional variants in MYH3, SYNE1, SYNE2, TTN PubMed: Nallamilli 2018, PubMed: Fichna 2018 - - Germline - - - - - Madhuri Hegde, Johan den Dunnen
+/. 1 1 c.308C>T pathogenic r.(?) p.(Pro103Leu) g.42652311C>T - - - CAPN3_000221 - PubMed: Piluso 2005 - - Germline - - - - - Johan den Dunnen
?/. 2 1 c.309G>A VUS r.0, r.(?) p.0, p.(=) g.42652312G>A - CAPN3(NM_000070.2):c.309G>A (r.(spl?)) - CAPN3_000402 VKGL data sharing initiative Nederland - - - Germline, CLASSIFICATION record - - - - - Lorea Blazquez, VKGL-NL
+/. 1 1i c.309+1G>T pathogenic r.spl p.? g.42652313G>T - - - CAPN3_000122 - Ginjaar WMS2005 - - Germline - - - - - Ieke Ginjaar
?/. 1 1i c.309+41G>A VUS r.(?) p.(=) g.42652353G>A - - - CAPN3_000515 from website {DBsub-Emory} - - - Unknown - - - - - Madhuri Hegde
+/. 2 1i c.309+4469_1116-1204del pathogenic r.[310_1115del, -52_269del;310_1115del], r.(del?) p.[Glu104Metfs*11, 0?], p.(Glu104Metfs*11) g.42656781_42687794del - - - CAPN3_000295 custom-design NimbleGen array PubMed: Krahn 2007, PubMed: Nascimbeni 2010 - - Germline - - - - - Nicolas Levy, Marina Fanin
+/. 1 1i c.310-?_945+?del pathogenic r.(ex02ex06del) p.? g.42676681_42682294del - - - CAPN3_000446 - Ginjaar, WMS2008 - - Germline - - - - - Ieke Ginjaar
+/. 7 1i c.310-?_1115+?del pathogenic r.(ex02ex08del), r.310_1115del, r.(?) p.?, p.Glu104Metfs*11, p.(Glu104Metfs*11) g.42676681_42686539del - - - CAPN3_000173 - Ginjaar, WMS2008, PubMed: Georgieva 2005, PubMed: Todorova 2007, Joncourt ESHG 2003, P0667, 1 more item - - Germline - - - - - Ieke Ginjaar, Johan den Dunnen
+/. 1 - c.310G>T ACMG: 5 r.(?) p.(Glu104*) g.42676681G>T g.42384483G>T - - CAPN3_000693 ACMG PVS1, PM2, PM3, PM4, PP3, PP4 PubMed: Monies 2016 - - Germline - - - - - Johan den Dunnen
+/. 1 1i_24_ c.(309+1_310-1)_(*544_?)del pathogenic r.? p.? g.(42652313_42676680)_(42704515_?)del - - - CAPN3_000445 originally scored as homozygous c.2115+4T>A Ginjaar, WMS2008 - - Germline - - - - - Ieke Ginjaar
-?/., +/., -/. 8 2 c.318C>T likely benign, pathogenic, benign r.(?) p.(=) g.42676689C>T - CAPN3(NM_000070.2):c.318C>T (p.=) - CAPN3_000058 VKGL data sharing initiative Nederland, from website {DBsub-Emory} PubMed: Richard 1999, PubMed: Piluso 2005 - - CLASSIFICATION record, Germline, Unknown - 0.04, 1/76, 0.02 - - - VKGL-NL_AMC, Lab Müller-Reible, VKGL-NL_Leiden, Madhuri Hegde, Johan den Dunnen, Gabriele Dekomien, Ieke Ginjaar
-/., +/., -?/. 5 2 c.319G>A benign, pathogenic, likely benign r.(?) p.(Glu107Lys) g.42676690G>A - CAPN3(NM_000070.2):c.319G>A (p.E107K) - CAPN3_000059 VKGL data sharing initiative Nederland Politano et al., Neuromuscul.Disord. 12: 733, PubMed: Richard 1999 - - Germline, CLASSIFICATION record - 0.05 - - - Ieke Ginjaar, Johan den Dunnen, VKGL-NL_Utrecht, VKGL-NL_Leiden
+/. 4 2 c.319G>T pathogenic r.(?) p.(Glu107*) g.42676690G>T - - - CAPN3_000568 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 2 2 c.327_328del pathogenic r.(?) p.(Arg110Ilefs*4) g.42676698_42676699del - - - CAPN3_000266 - PubMed: Groen 2007 - - Germline - - - - - Ann Curtis, Lab Müller-Reible
+/. 2 2 c.327_328dup pathogenic r.(?) p.(Arg110Profs*18) g.42676698_42676699dup - 327_328dupCC - CAPN3_000440 - PubMed: Groen 2007, PubMed: Nallamilli 2018 - - Germline - - - - - Ann Curtis, Madhuri Hegde
+/. 18 2 c.328C>T pathogenic r.(?) p.(Arg110*) g.42676699C>T - - - CAPN3_000001 - PubMed: Piluso 2005, PubMed: Richard 1999 + PubMed: Pollitt 2001, PubMed: de Paula, PubMed: Krahn 2006, 4 more items - - Germline - - - - - Johan den Dunnen, Lab Müller-Reible, Marina Fanin
?/. 1 2 c.331T>A VUS r.(?) p.(Phe111Ile) g.42676702T>A - - - CAPN3_000569 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 2 c.332T>C pathogenic r.(?) p.(Phe111Ser) g.42676703T>C - - - CAPN3_000318 - - - - Germline - - - - - Amets Sáenz
?/. 4 2 c.338T>C VUS r.(?) p.(Ile113Thr) g.42676709T>C - - - CAPN3_000570 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 2 c.351C>T VUS r.(?) p.(=) g.42676722C>T - - - CAPN3_000571 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 2 c.352A>G pathogenic r.(?) p.(Arg118Gly) g.42676723A>G - - - CAPN3_000060 - PubMed: Richard 1999 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.356T>C pathogenic (recessive) r.(?) p.(Leu119Pro) g.71738950T>C g.71511820T>C - - CAPN3_000691 - PubMed: Izumi 2015 - - Germline - - - - - Johan den Dunnen
+/. 2 2 c.358G>A pathogenic r.(?) p.(Asp120Asn) g.42676729G>A - - - CAPN3_000319 - - - - Germline - - - - - Amets Sáenz
?/. 1 2 c.360C>A VUS r.(?) p.(Asp120Glu) g.42676731C>A - - - CAPN3_000572 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 4 2 c.363C>G VUS r.(?) p.(Ile121Met) g.42676734C>G - - - CAPN3_000401 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde, Tom Winder
?/. 1 2 c.367C>A VUS r.(?) p.(Gln123Lys) g.42676738C>A - - - CAPN3_000573 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 2 c.372A>T VUS r.(?) p.(=) g.42676743A>T - - - CAPN3_000574 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/. 1 2 c.379G>C likely pathogenic r.(?) p.(Gly127Arg) g.42676750G>C - - - CAPN3_000533 - - - - Unknown - - - - - Marina Fanin
+?/. 2 2i c.379+5G>A likely pathogenic r.(spl?) p.(?) g.42676755G>A - - - CAPN3_000529 - - - - Germline - - - - - Tom Winder
-?/. 1 2i c.379+423T>A likely benign r.(?) p.(=) g.42677173T>A - - - CAPN3_000507 - - - - Germline - - - - - Rosetta Marotta
-?/. 2 2i c.379+432T>A likely benign r.(?) p.(=) g.42677182T>A - - - CAPN3_000508 - - - - Germline - - - - - Rosetta Marotta
-/. 1 2i c.380-52T>G benign r.(=) p.(=) g.42678313T>G - - - CAPN3_000174 - - - - Germline - 1/76 - - - Gabriele Dekomien
-/. 2 2i c.380-27C>T benign r.(?), r.(=) p.(=) g.42678338C>T - - - CAPN3_000339 from website {DBsub-Emory} PubMed: Saenz 2005 - - Unknown, Germline - - - - - Madhuri Hegde, Johan den Dunnen
?/. 1 2i c.380-18_380-3del VUS r.spl? p.? g.42678347_42678362del - 380-18_380-3del16 - CAPN3_000575 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 2 2i c.380-2A>C pathogenic r.[380_498del, 379_380ins380-45_380-1; 380-2a>c] p.[Gly127Valfs*14, Gly127_Asp128ins15] g.42678363A>C - - - CAPN3_000423 control chromosomes PubMed: Guglieri 2007 - - Germline - 0/320 - - - Johan den Dunnen
+/. 2 3 c.380G>A pathogenic (recessive) r.(?) p.(Gly127Glu) g.42678365G>A g.42386167G>A - - CAPN3_000687 - PubMed: Mojbafan 2018 - - Germline yes - - - - Johan den Dunnen
?/. 1 3 c.387C>G VUS r.(?) p.(Cys129Trp) g.42678372C>G - - - CAPN3_000576 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/. 1 - c.388T>C ACMG: 4 r.(?) p.(Trp130Arg) g.42678373T>C - - - CAPN3_000558 ACMG grading: PM1, PM2, PP2, PP3; additional variants in COL6A3, NEB, HSPG2, TTN x2, GNE PubMed: Fichna 2018 - - Germline - - - - - Johan den Dunnen
+/. 2 3 c.389G>C pathogenic r.389g>c p.Trp130Ser g.42678374G>C - - - CAPN3_000347 - PubMed: Lo 2008, Tay WMS2006 P.P.6.04 - - Germline - ? ? - - Maria Chiotis
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