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.

745 entries on 8 pages. Showing entries 1 - 100.
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Effect     

Reported     

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     
+/. 3 - c.? r.(?), r.? p.? - pathogenic (recessive) g.? - c.1093A>T (I365F), c.1829C>T (A610V), c.25C>T (Q9Ter) - IGF1R_000000 - PubMed: Yu 2017 - - Germline - - - - - Johan den Dunnen
-/. 1 1 c.-763C>G r.(?) p.(=) - benign g.42651241C>G g.42359043C>G - - CAPN3_000177 - - - - Germline - 1/76 - - - Gabriele Dekomien
-/. 1 1 c.-719A>T r.(?) p.(=) - benign g.42651285A>T g.42359087A>T - - CAPN3_000176 - - - - Germline - 4/76 - - - Gabriele Dekomien
?/. 1 1 c.-552G>A r.(?) p.(=) - VUS g.42651452G>A g.42359254G>A - - CAPN3_000262 - PubMed: Todorova 2005 - - Germline - - - - - Lab Müller-Reible
?/., -/. 3 1 c.-408T>C r.(?) p.?, p.(=) - VUS, benign g.42651596T>C g.42359398T>C - - CAPN3_000049 - PubMed: Richard 1995, PubMed: Richard 1999 - - Germline - 4/76 - - - Johan den Dunnen, Gabriele Dekomien
-/. 1 1 c.-322A>C r.(?) p.(=) - benign g.42651682A>C g.42359484A>C - - CAPN3_000175 - - - - Germline - 2/76 - - - Gabriele Dekomien
+/. 1 _1_1i c.(?_-306)_(309+1_310-1)del r.0? p.0? - pathogenic g.(?_42651698)_(42652313_42676680)del - - - CAPN3_000447 exon 1 deletion, unknown variant 2nd allele - - - Germline - - - - - Nicolas Levy
?/., -/. 2 1 c.-104G>C r.-104g>c p.=, p.(=) - VUS, benign g.42651900G>C g.42359702G>C - - CAPN3_000171 - - - - Germline - 3/76 - - - Rosetta Marotta, Gabriele Dekomien
+/. 2 5i c.? r.(?_802)_(945_?)del, r.802_945del p.?, p.Asp268_Arg315del - pathogenic 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 r.(?) p.(Thr3Profs*54) - likely pathogenic (recessive) g.42652010del g.42359812del 7delA - CAPN3_000685 - PubMed: Izumi 2015, Izumi 2020 (submitted) - - Germline - - - - - Johan den Dunnen
+/. 2 1 c.8C>A r.(?) p.(Thr3Asn) - pathogenic g.42652011C>A g.42359813C>A - - CAPN3_000332 - - - - Germline - - - - - Amets Sáenz
-/. 1 1 c.9C>T r.(?) p.(=) - benign g.42652012C>T g.42359814C>T - - CAPN3_000050 determined on >100 chromosomes PubMed: Richard 1999 - - Germline - <0.01 - - - Johan den Dunnen
?/., +/. 3 1 c.10G>A r.(?) p.(Val4Ile) - VUS, pathogenic g.42652013G>A g.42359815G>A - - CAPN3_000051 - PubMed: Nallamilli 2018, PubMed: Richard 1999 - - Germline - - - - - Madhuri Hegde, Johan den Dunnen, Amets Sáenz
+/. 2 1 c.19_23del r.(?) p.(Ala7Cysfs*8) - pathogenic g.42652022_42652026del g.42359824_42359828del - - CAPN3_000020 - PubMed: Richard 1997, PubMed: Dincer 1997 - - Germline - - HpaII- - - Johan den Dunnen
?/. 1 1 c.41C>T r.(?) p.A14V - VUS g.42652044C>T g.42359846C>T - - CAPN3_000562 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 - c.55+1G>A r.spl p.? - pathogenic (recessive) g.42652059G>A g.42359861G>A - - CAPN3_000724 1 more item PubMed: Yu 2017 - - Germline - - - - - Johan den Dunnen
+/. 2 1 c.59del r.(?) p.(Pro20Glnfs*37) - pathogenic g.42652062del g.42359864del 59delC - CAPN3_000530 - - - - Germline yes - - - - Marina Fanin
+/. 6 1 c.60del r.(?) p.(Pro22Glnfs*35) - pathogenic g.42652063del g.42359865del 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 r.(?) p.(Gly21Trp) - VUS g.42652064G>T g.42359866G>T - - CAPN3_000563 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/., +/., -/. 3 1 c.62G>A r.(?) p.(Gly21Glu) - VUS, pathogenic, benign g.42652065G>A g.42359867G>A - - CAPN3_000265 from website {DBsub-Emory} - - - Germline, Unknown - - - - - Lab Müller-Reible, Madhuri Hegde
+/. 3 - c.70_71del r.(?) p.(Pro24Serfs*9) - pathogenic (recessive) g.42652073_42652074del g.42359875_42359876del - - CAPN3_000742 - Zhong 2020, submitted - - Germline/De novo (untested) - - - - - Huahua Zhong
?/., +/. 5 1 c.77C>T r.(?) p.(Pro26Leu) - VUS, pathogenic g.42652080C>T g.42359882C>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 r.(?) p.(=) - benign g.42652081G>A g.42359883G>A - - CAPN3_000513 from website {DBsub-Emory} - - - Unknown - - - - - Madhuri Hegde
?/. 1 1 c.87C>G r.(?) p.(Ser29Arg) - VUS g.42652090C>G g.42359892C>G - - CAPN3_000564 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/., -/., ?/. 13 1 c.96T>C r.(?) p.(=), p.(Thr32=) - likely benign, benign, VUS g.42652099T>C g.42359901T>C CAPN3(NM_000070.2):c.96T>C (p.T32=, 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_AMC, VKGL-NL_Utrecht, Rosetta Marotta, Madhuri Hegde, Johan den Dunnen, Pankaj Pathak, Ieke Ginjaar
+/. 1 1 c.100del r.(?) p.(Ala34fs*23) - pathogenic g.42652103del g.42359905del 100delG - CAPN3_000165 - PubMed: Fanin 2004, PubMed: Pizzanelli 2006 - - Germline - - - - - Marina Fanin
+/., ?/. 11 1 c.133G>A r.133g>a, r.(?) p.Ala45Thr, p.(Ala45Thr) - pathogenic, VUS g.42652136G>A g.42359938G>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 r.(?) p.(Ile47Phe) - VUS g.42652142A>T g.42359944A>T - - CAPN3_000531 - - - - Unknown - - - - - Marina Fanin
+/. 11 1 c.140_142del r.(?) p.(Ile47del) - pathogenic g.42652143_42652145del g.42359945_42359947del - - 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 r.(?) p.(Ser48Asn) - pathogenic g.42652146G>A g.42359948G>A - - CAPN3_000201 - PubMed: Fanin 2004 + PubMed: Piluso 2005 - - Germline - - - - - Marina Fanin
+/., ?/. 13 1 c.145C>T r.(?) p.(Arg49Cys) - pathogenic, pathogenic (recessive), VUS g.42652148C>T g.42359950C>T - - CAPN3_000263 2 Variants detected in CAPN3, no second variant PubMed: Nallamilli 2018, PubMed: Yu 2017, PubMed: Groen 2007, Zhong 2020, submitted - - Germline, Unknown, Germline/De novo (untested) - - - - - Madhuri Hegde, Johan den Dunnen, Lab Müller-Reible, Tom Winder, Huahua Zhong, Ann Curtis
+/., +?/. 11 1 c.146G>A r.(?) p.(Arg49His) ACMG pathogenic, likely pathogenic, likely pathogenic (recessive) 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, 3 more items - rs863224958 Germline, Germline/De novo (untested) - - - - - Johan den Dunnen, Huahua Zhong, Lab Müller-Reible
+/. 5 1 c.149A>G r.(?) p.(Asn50Ser) - pathogenic g.42652152A>G g.42359954A>G - - CAPN3_000303 - PubMed: Krahn 2006 - - Germline - - - - - Amets Sáenz, Johan den Dunnen
?/. 1 1 c.157A>G r.(?) p.(Ile53Val) - VUS g.42652160A>G g.42359962A>G - - CAPN3_000565 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 2 1 c.163G>A r.(?) p.(Gly55Arg) - VUS g.42652166G>A g.42359968G>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_AMC
+/. 1 1 c.193C>G r.(?) p.(His65Asp) - pathogenic g.42652196C>G g.42359998C>G - - CAPN3_000412 - PubMed: Groen 2007 - - Germline - - - - - Ann Curtis
+/. 3 - c.204T>A r.(?) p.(Cys68*) - pathogenic (recessive) g.42652207T>A g.42360009T>A - - CAPN3_000725 - Zhong 2020, submitted, PubMed: Yu 2017 - - Germline/De novo (untested), Germline - - - - - Huahua Zhong, Johan den Dunnen
+/. 4 1 c.206T>C r.(?) p.(Leu69Pro) - pathogenic g.42652209T>C g.42360011T>C - - CAPN3_000312 - - - - Germline - - - - - Amets Sáenz
?/. 1 - c.212A>G r.(?) p.(Lys71Arg) - VUS g.42652215A>G g.42360017A>G - - - - Zhong 2020, submitted - - Germline/De novo (untested) - - - - - Huahua Zhong
+/. 1 - c.216del r.(?) p.(Val73Phefs*54) - pathogenic (recessive) g.42652219del g.42360021del 216delA - - - Zhong 2020, submitted - - Germline/De novo (untested) - - - - - Huahua Zhong
+?/., +/. 5 1 c.223dup r.(?) p.(Tyr75Leufs*5) - likely pathogenic, pathogenic, pathogenic (recessive) g.42652226dup g.42360028dup 223dupT - CAPN3_000537 2 variants detected in CAPN3 PubMed: Punetha 2016, PubMed: Nallamilli 2018 - - Germline - - - - - Jaya Punetha, Madhuri Hegde, Svetlana Gorokhova
?/., +/. 3 1 c.224A>G r.(?), r.224a>g p.(Tyr75Cys), p.Tyr75Cys - VUS, pathogenic g.42652227A>G g.42360029A>G - - CAPN3_000371 - PubMed: Nallamilli 2018, PubMed: Stehlikova 2007 - - Germline - - - - - Madhuri Hegde, Johan den Dunnen
+/. 2 1 c.225dup r.(?) p.(Val76Cysfs*4) - pathogenic g.42652228dup g.42360030dup 225dupT - CAPN3_000054 - PubMed: Richard 1999, PubMed: Krahn 2006 - - Germline - - - - - Johan den Dunnen
+/. 9 1 c.229G>A r.(?) p.(Asp77Asn) - pathogenic g.42652232G>A g.42360034G>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
+?/., ?/. 3 1 c.232C>A r.(?) p.(Pro78Thr) - likely pathogenic, VUS g.42652235C>A g.42360037C>A - - CAPN3_000444 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Lab Müller-Reible, Madhuri Hegde
?/. 1 1 c.235G>C r.(?) p.(Glu79Gln) - VUS g.42652238G>C g.42360040G>C - - CAPN3_000532 - - - - Unknown - - - - - Marina Fanin
+/. 4 1 c.240C>G r.(?) p.(Phe80Leu) - pathogenic g.42652243C>G g.42360045C>G - - CAPN3_000429 control chromosomes PubMed: Guglieri 2007 - - Germline - 0/320 - - - Johan den Dunnen
+/., ?/., +?/. 37 1 c.245C>T r.(?), r.245c>u p.(Pro82Leu), p.Pro82Leu ACMG pathogenic, VUS, likely pathogenic (recessive), likely pathogenic g.42652248C>T g.42360050C>T - - CAPN3_000143 consistent with diagnosis LGMD, no second variant, unknown variant 2nd chromosome, 1 more item PubMed: Nallamilli 2018, PubMed: Piluso 2005, PubMed: Hermanova 2005, Stehlikova ESHG2009 P16.45, 11 more items - - Germline, Germline/De novo (untested) - - MspI, MspI-, -, NciI- - - Madhuri Hegde, Johan den Dunnen, Tom Winder, Jana Sedlackova, Lab Müller-Reible, Marina Fanin, Huahua Zhong, Tom Winder, Amets Sáenz
+/., -/., ?/. 4 1 c.246G>A r.(?) p.(=) - pathogenic, benign, VUS g.42652249G>A g.42360051G>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 r.(?) p.(Glu84Leufs*5) - pathogenic g.42652252_42652256del g.42360054_42360058del - - CAPN3_000192 - PubMed: Piluso 2005 - - Germline - - - - - Johan den Dunnen
+/. 7 1 c.257C>T r.257c>u p.Ser86Phe - pathogenic (dominant) g.42652260C>T g.42360062C>T - - CAPN3_000021 - PubMed: Richard 1997, OMIM:var0004 - - Germline - - - - - Johan den Dunnen
+/. 11 1 c.258dup r.(?) p.(Leu87Serfs*4) - pathogenic g.42652261dup g.42360063dup 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 r.(?) p.(Leu87Val) - pathogenic g.42652262C>G g.42360064C>G - - CAPN3_000219 - PubMed: Piluso 2005 - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.260dup r.(?) p.(p.(Phe88Leufs*3) - pathogenic g.42652263dup g.42360065dup 260dupT - CAPN3_000370 - PubMed: Fanin 2004 - - Germline - - - - - Marina Fanin
+/. 2 1 c.260_265delinsGA r.(?) p.(Leu87Argfs*39) - pathogenic g.42652263_42652268delinsGA g.42360065_42360070delinsGA - - CAPN3_000144 - PubMed: de Paula - - Germline - - - - - Johan den Dunnen
+/. 2 - c.261_262del r.(?) p.(Phe88Leufs*2) - pathogenic (recessive) g.42652264_42652265del g.42360066_42360067del c.255_256delCT, 255_256del - CAPN3_000726 - PubMed: Yu 2017, Zhong 2020, submitted - - Germline, Germline/De novo (untested) - - - - - Johan den Dunnen, Huahua Zhong
?/. 4 1 c.264T>G r.(?) p.(Phe88Leu) - VUS g.42652267T>G g.42360069T>G - - CAPN3_000566 variant apparently homozygous, no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 - c.264+1G>C r.spl p.? - pathogenic (recessive) g.42652268G>C g.42360070G>C - - CAPN3_000727 1 more item PubMed: Yu 2017 - - Germline - - - - - Johan den Dunnen
-/. 1 1 c.266A>G r.(?) p.(Tyr89Cys) - benign g.42652269A>G g.42360071A>G - - CAPN3_000536 - - - - Unknown - - - - - Marina Fanin
+/. 1 - c.275del r.(?) p.(Lys92Serfs*35) - pathogenic (recessive) g.42652278del g.42360080del 274del - - - Zhong 2020, submitted - - Germline/De novo (untested) - - - - - Huahua Zhong
+/. 2 1 c.277_300del r.(?) p.(Phe93_Lys100del) - pathogenic g.42652280_42652303del g.42360082_42360105del - - CAPN3_000057 - PubMed: Richard 1999 - rs1801631 Germline - - - - - Johan den Dunnen
?/. 1 - c.281C>T r.(?) p.(Pro94Leu) - VUS g.42652284C>T g.42360086C>T - - - - Zhong 2020, submitted - - Germline/De novo (untested) - - - - - Huahua Zhong
+/. 2 1 c.286del r.(?) p.(Gln96Serfs*31) - pathogenic g.42652289del g.42360091del 286delC - CAPN3_000420 control chromosomes PubMed: Guglieri 2007 - - Germline - 0/320 - - - Johan den Dunnen
?/. 1 1 c.288G>T r.(?) p.(Gln96His) - VUS g.42652291G>T g.42360093G>T - - CAPN3_000567 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 2 1 c.291C>A r.(?) p.(Phe97Leu) - pathogenic (recessive), pathogenic g.42652294C>A g.42360096C>A - - CAPN3_000264 - PubMed: Mojbafan 2018 - - Germline yes - - - - Johan den Dunnen, Lab Müller-Reible
?/. 1 1 c.292G>A r.(?) p.(Val98Ile) - VUS g.42652295G>A g.42360097G>A - - CAPN3_000240 - PubMed: Piluso 2005 - - Germline - - - - - Johan den Dunnen
?/. 1 1 c.294C>G r.(?) p.(=) - VUS g.42652297C>G g.42360099C>G - - CAPN3_000514 from website {DBsub-Emory} - - - Unknown - - - - - Madhuri Hegde
+/. 2 1 c.302G>A r.(?) p.(Arg101Lys) - pathogenic g.42652305G>A g.42360107G>A - - CAPN3_000317 - PubMed: Krahn 2006 - - Germline - - - - - Amets Sáenz, Johan den Dunnen
+/. 1 1 c.304C>T r.(?) p.(Pro102Ser) - pathogenic g.42652307C>T g.42360109C>T - - CAPN3_000220 - PubMed: Piluso 2005 - - Germline - - - - - Johan den Dunnen
?/., +?/. 2 1 c.305C>T r.(?) p.(Pro102Leu) ACMG VUS, likely pathogenic g.42652308C>T g.42360110C>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 r.(?) p.(Pro103Leu) - pathogenic g.42652311C>T g.42360113C>T - - CAPN3_000221 - PubMed: Piluso 2005 - - Germline - - - - - Johan den Dunnen
?/. 2 1 c.309G>A r.0, r.(?) p.0, p.(Pro103=) - VUS g.42652312G>A g.42360114G>A - - CAPN3_000402 VKGL data sharing initiative Nederland - - - Germline, CLASSIFICATION record - - - - - Lorea Blazquez, VKGL-NL_Nijmegen
+/. 1 1i c.309+1G>T r.spl p.? - pathogenic g.42652313G>T g.42360115G>T - - CAPN3_000122 - Ginjaar WMS2005 - - Germline - - - - - Ieke Ginjaar
?/. 1 1i c.309+41G>A r.(?) p.(=) - VUS g.42652353G>A g.42360155G>A - - CAPN3_000515 from website {DBsub-Emory} - - - Unknown - - - - - Madhuri Hegde
+/. 2 1i c.309+4469_1116-1204del r.[310_1115del, -52_269del;310_1115del], r.(del?) p.[Glu104Metfs*11, 0?], p.(Glu104Metfs*11) - pathogenic g.42656781_42687794del g.42364583_42395596del - - CAPN3_000295 custom-design NimbleGen array PubMed: Krahn 2007, PubMed: Nascimbeni 2010 - - Germline - - - - - Nicolas Levy, Marina Fanin
-/. 1 - c.310-5123G>A r.(=) p.(=) - benign g.42671558G>A g.42379360G>A CAPN3(NM_000070.2):c.310-5123G>A - CAPN3_000698 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 1i c.310-?_945+?del r.(ex02ex06del) p.? - pathogenic g.42676681_42682294del - - - CAPN3_000446 1 more item Ginjaar, WMS2008 - - Germline - - - - - Ieke Ginjaar
+/. 7 1i c.310-?_1115+?del r.(ex02ex08del), r.310_1115del, r.(?) p.?, p.Glu104Metfs*11, p.(Glu104Metfs*11) - pathogenic g.42676681_42686539del - - - CAPN3_000173 1 more item 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 r.(?) p.(Glu104*) ACMG pathogenic g.42676681G>T g.42384483G>T - - CAPN3_000693 ACMG PVS1, PM2, PM3, PM4, PP3, PP4 PubMed: Monies 2016 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.(309+1_310-1)_(1115+1_1116-1)del r.(310_1115del) p.(Glu104Metfs*11) - pathogenic (recessive) g.(42652313_42676680)_(42686540_42688997)del g.(42360115_42384482)_(42394342_42396799)del c.310-?_1115+?del - CAPN3_000723 - - - - Germline - - - - - Helen Latsoudis
+/. 1 1i_24_ c.(309+1_310-1)_(*544_?)del r.? p.? - pathogenic g.(42652313_42676680)_(42704515_?)del - - - CAPN3_000445 originally scored as homozygous c.2115+4T>A Ginjaar, WMS2008 - - Germline - - - - - Ieke Ginjaar
-?/., +/., -/. 7 2 c.318C>T r.(?) p.(Cys106=), p.(=) - likely benign, pathogenic, benign g.42676689C>T g.42384491C>T CAPN3(NM_000070.2):c.318C>T (p.C106=) - 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, Madhuri Hegde, Johan den Dunnen, Gabriele Dekomien, Ieke Ginjaar
-/., +/., -?/. 5 2 c.319G>A r.(?) p.(Glu107Lys) - benign, pathogenic, likely benign g.42676690G>A g.42384492G>A CAPN3(NM_000070.2):c.319G>A (p.(Glu107Lys), 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 r.(?) p.(Glu107*) - pathogenic g.42676690G>T g.42384492G>T - - CAPN3_000568 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/. 3 - c.325C>A r.(?) p.(Pro109Thr) - likely pathogenic (recessive) g.42676696C>A g.42384498C>A - - CAPN3_000749 - Zhong 2020, submitted - - Germline/De novo (untested) - - - - - Huahua Zhong
+/. 2 2 c.327_328del r.(?) p.(Arg110Ilefs*4) - pathogenic g.42676698_42676699del g.42384500_42384501del - - CAPN3_000266 - PubMed: Groen 2007 - - Germline - - - - - Ann Curtis, Lab Müller-Reible
+/. 2 2 c.327_328dup r.(?) p.(Arg110Profs*18) - pathogenic g.42676698_42676699dup g.42384500_42384501dup 327_328dupCC - CAPN3_000440 - PubMed: Groen 2007, PubMed: Nallamilli 2018 - - Germline - - - - - Ann Curtis, Madhuri Hegde
+/. 19 2 c.328C>T r.(?) p.(Arg110*) - pathogenic, pathogenic (recessive) g.42676699C>T g.42384501C>T - - CAPN3_000001 - PubMed: Piluso 2005, PubMed: Richard 1999 + PubMed: Pollitt 2001, PubMed: de Paula, PubMed: Krahn 2006, 5 more items - - Germline, Germline/De novo (untested) - - - - - Johan den Dunnen, Lab Müller-Reible, Marina Fanin, Huahua Zhong
?/. 1 - c.329G>A r.(?) p.(Arg110Gln) - VUS g.42676700G>A g.42384502G>A - - - - Zhong 2020, submitted - - Germline/De novo (untested) - - - - - Huahua Zhong
?/. 1 2 c.331T>A r.(?) p.(Phe111Ile) - VUS g.42676702T>A g.42384504T>A - - CAPN3_000569 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 2 c.332T>C r.(?) p.(Phe111Ser) - pathogenic g.42676703T>C g.42384505T>C - - CAPN3_000318 - - - - Germline - - - - - Amets Sáenz
?/. 4 2 c.338T>C r.(?) p.(Ile113Thr) - VUS g.42676709T>C g.42384511T>C - - CAPN3_000570 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 2 c.351C>T r.(?) p.(=) - VUS g.42676722C>T g.42384524C>T - - CAPN3_000571 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 2 c.352A>G r.(?) p.(Arg118Gly) - pathogenic g.42676723A>G g.42384525A>G - - CAPN3_000060 - PubMed: Richard 1999 - - Germline - - - - - Johan den Dunnen
+/. 3 2 c.358G>A r.(?) p.(Asp120Asn) - pathogenic, pathogenic (recessive) g.42676729G>A g.42384531G>A - - CAPN3_000319 - - - - Germline - - - - - Amets Sáenz, Svetlana Gorokhova
?/. 1 2 c.360C>A r.(?) p.(Asp120Glu) - VUS g.42676731C>A g.42384533C>A - - CAPN3_000572 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/., ?/. 2 - c.362T>A r.(?) p.(Ile121Asn) - pathogenic (recessive), VUS g.42676733T>A g.42384535T>A - - CAPN3_000728 - PubMed: Yu 2017, Zhong 2020, submitted - - Germline, Germline/De novo (untested) - - - - - Johan den Dunnen, Huahua Zhong
?/., +?/. 5 2 c.363C>G r.(?) p.(Ile121Met) - VUS, likely pathogenic (recessive) g.42676734C>G g.42384536C>G - - CAPN3_000401 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde, Tom Winder, Svetlana Gorokhova
?/. 1 2 c.367C>A r.(?) p.(Gln123Lys) - VUS g.42676738C>A g.42384540C>A - - CAPN3_000573 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 2 c.372A>T r.(?) p.(=) - VUS g.42676743A>T g.42384545A>T - - CAPN3_000574 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
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