Full data view for gene CAPN1

Information The variants shown are described using the NM_005186.3 transcript reference sequence.

57 entries on 1 page. Showing entries 1 - 57.
Legend   How to query  

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     
?/. - c.20C>T r.(?) p.(Thr7Met) Unknown - VUS g.64950192C>T g.65182721C>T CAPN1(NM_001198868.1):c.20C>T (p.T7M) - CAPN1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.159G>A r.(?) p.(Gly53=) Unknown - benign g.64950331G>A g.65182860G>A CAPN1(NM_001198868.1):c.159G>A (p.G53=) - CAPN1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.188dup r.(?) p.(Val64Glyfs*103) Both (homozygous) - pathogenic (recessive) g.64950360dup g.65182889dup 183dupC - CAPN1_000024 - PubMed: Wang 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES SPG (SAL-584-005 PubMed: Wang 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents - - S. Georgia and S. Sandwich Isls. - - - - - 1 Johan den Dunnen
+?/. - c.221G>A r.(?) p.(Gly74Asp) Paternal (confirmed) - likely pathogenic (recessive) g.64950393G>A g.65182922G>A - - CAPN1_000027 - PubMed: Travaglini 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 89 HSP gene panel IMD FamPat PubMed: Travaglini 2017 - M no Italy - - - - - 1 Johan den Dunnen
+?/. - c.267+2T>C r.spl? p.? Unknown - likely pathogenic g.64950441T>C g.65182970T>C CAPN1(NM_005186.4):c.267+2T>C - CAPN1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.307A>G r.(?) p.(Thr103Ala) Unknown - benign g.64950638A>G g.65183167A>G CAPN1(NM_001198868.1):c.307A>G (p.T103A) - CAPN1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.337+1G>A r.337_338ins[a;337+1_337+27] p.Leu112_Gly113insDRPPGGRVP Both (homozygous) - pathogenic (recessive) g.64950669G>A g.65183198G>A - - CAPN1_000023 - PubMed: Wang 2016 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - SPG FamR PubMed: Wang 2016 3-generation family, 2 affected (2F), unaffected heterozygous carrier parents/relatives F yes Bangladesh - - - - - 2 Johan den Dunnen
-/. - c.363C>T r.(?) p.(Ile121=) Unknown - benign g.64950970C>T g.65183499C>T - - CAPN1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.397C>T r.(?) p.(Arg133*) Both (homozygous) - pathogenic (recessive) g.64951004C>T g.65183533C>T - - CAPN1_000009 - PubMed: Shetty 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES IMD FamPat2/3 PubMed: Shetty 2018 4-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents F;M yes Turkey - - - - - 1 Johan den Dunnen
+/. 4 c.407del r.(?) p.(Pro136Argfs*40) Maternal (confirmed) - pathogenic (recessive) g.64951014del g.65183543del 406delC - CAPN1_000003 - PubMed: Gan-Or 2016, Journal: Gan-Or 2016 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - SPG - PubMed: Gan-Or 2016, Journal: Gan-Or 2016 5-geenration family, 2 affecteds (F, M) F;M no United States idaho/Utah - - - - 2 Johan den Dunnen
?/. - c.412G>C r.(?) p.(Gly138Arg) Unknown - VUS g.64951019G>C g.65183548G>C CAPN1(NM_001198868.1):c.412G>C (p.G138R) - CAPN1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.414_415insTAGGCGGAACCATAGCTTCATAGCTT r.(?) p.(Gln139*) Unknown - pathogenic g.64951021_64951022insTAGGCGGAACCATAGCTTCATAGCTT g.65183550_65183551insTAGGCGGAACCATAGCTTCATAGCTT - - CAPN1_000011 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
-?/. - c.457-5C>A r.spl? p.? Unknown - likely benign g.64953383C>A g.65185912C>A CAPN1(NM_001198868.1):c.457-5C>A - CAPN1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.463C>T r.(?) p.(Gln155*) Parent #1 - pathogenic (recessive) g.64953394C>T g.65185923C>T C463T - CAPN1_000025 - PubMed: Wang 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES SPG Pat PubMed: Wang 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents - - France;Spain - - - - - 1 Johan den Dunnen
-?/. - c.519G>A r.(?) p.(Gly173=) Unknown - likely benign g.64953450G>A - CAPN1(NM_001198868.1):c.519G>A (p.G173=) - CAPN1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.616_620del r.(?) p.(Ser206Glyfs*8) Unknown - pathogenic g.64953666_64953670del g.65186195_65186199del 616_620delTCAGG - CAPN1_000010 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
?/. - c.737C>T r.(?) p.(Ser246Phe) Unknown - VUS g.64953787C>T - CAPN1(NM_001198868.2):c.737C>T (p.S246F) - CAPN1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.759+1G>A r.591_759del p.Val198Serfs*6 Both (homozygous) - pathogenic (recessive) g.64953810G>A g.65186339G>A - - CAPN1_000018 - PubMed: Tadic 2017 - - Germline yes - - - - DNA RT-PCR, SEQ, SEQ-NG - WES IMD FamPatII1/2 PubMed: Tadic 2017 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Turkey - - - - - 1 Johan den Dunnen
?/. - c.785C>A r.(?) p.(Ala262Asp) Unknown - VUS g.64954711C>A g.65187240C>A CAPN1(NM_001198868.2):c.785C>A (p.A262D) - CAPN1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.831C>A r.(?) p.(Thr277=) Unknown - likely benign g.64954757C>A - CAPN1(NM_001198868.1):c.831C>A (p.T277=) - CAPN1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.843+1G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.64954770G>C g.65187299G>C - - CAPN1_000030 - PubMed: Shetty 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES IMD case4 PubMed: Shetty 2018 4-generation family, 1 affected, unaffected heterozygous carrier parents M yes India Punjabi - - - - 1 Johan den Dunnen
+/. 8 c.884G>C r.(?) p.(Arg295Pro) Both (homozygous) - pathogenic (recessive) g.64955466G>C g.65187995G>C - - CAPN1_000001 - PubMed: Gan-Or 2016, Journal: Gan-Or 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - - SPG - PubMed: Gan-Or 2016, Journal: Gan-Or 2016 5-generation family, 3 affecteds (2F, M), unaffected heterozygous carrier parents F;M yes Morocco - - - - - 3 Johan den Dunnen
+?/. - c.911C>T r.(?) p.(Thr340Met) Maternal (confirmed) - likely pathogenic (recessive) g.64955493C>T g.65188022C>T - - CAPN1_000022 - PubMed: Travaglini 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 89 HSP gene panel IMD FamPat PubMed: Travaglini 2017 - M no Italy - - - - - 1 Johan den Dunnen
?/. - c.949G>A r.(?) p.(Val317Met) Unknown - VUS g.64955904G>A - CAPN1(NM_005186.4):c.949G>A (p.V317M) - CAPN1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.994G>A r.(?) p.(Gly332Arg) Both (homozygous) - pathogenic (recessive) g.64955949G>A g.65188478G>A - - CAPN1_000019 - PubMed: Kocoglu 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES IMD Fam1PatII1 PubMed: Kocoglu 2018 - F - Turkey - - - - - 1 Johan den Dunnen
?/. - c.1025T>C r.(?) p.(Met342Thr) Unknown - VUS g.64956077T>C - CAPN1(NM_001198868.1):c.1025T>C (p.M342T) - CAPN1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1070C>T r.(?) p.(Ala357Val) Unknown - VUS g.64956122C>T g.65188651C>T - - CAPN1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1103C>T r.(?) p.(Thr368Ile) Unknown - VUS g.64956155C>T g.65188684C>T CAPN1(NM_001198868.1):c.1103C>T (p.T368I) - CAPN1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1142C>T r.(?) p.(Ala381Val) Parent #2 - pathogenic (recessive) g.64956194C>T g.65188723C>T C1142T - CAPN1_000026 - PubMed: Wang 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES SPG Pat PubMed: Wang 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents - - France;Spain - - - - - 1 Johan den Dunnen
-/. - c.1152C>T r.(?) p.(Cys384=) Unknown - benign g.64956204C>T g.65188733C>T CAPN1(NM_001198868.1):c.1152C>T (p.C384=), CAPN1(NM_005186.4):c.1152C>T (p.C384=) - CAPN1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1152C>T r.(?) p.(Cys384=) Unknown - likely benign g.64956204C>T g.65188733C>T CAPN1(NM_001198868.1):c.1152C>T (p.C384=), CAPN1(NM_005186.4):c.1152C>T (p.C384=) - CAPN1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1176G>A r.(?) p.(Trp392*) Both (homozygous) - pathogenic (recessive) g.64972164G>A g.65204693G>A - - CAPN1_000020 - PubMed: Kocoglu 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES IMD Fam2PatII1 PubMed: Kocoglu 2018 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Turkey - - - - - 2 Johan den Dunnen
+/. - c.1176G>A r.(?) p.(Trp392*) Both (homozygous) - pathogenic (recessive) g.64972164G>A g.65204693G>A - - CAPN1_000020 - PubMed: Kocoglu 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES IMD Fam2PatII2 PubMed: Kocoglu 2018 - F yes Turkey - - - - - 1 Johan den Dunnen
-?/. - c.1320T>A r.(?) p.(Thr440=) Unknown - likely benign g.64972308T>A - CAPN1(NM_001198868.2):c.1320T>A (p.T440=) - CAPN1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1341+10G>A r.(=) p.(=) Unknown - likely benign g.64972339G>A g.65204868G>A CAPN1(NM_001198868.1):c.1341+10G>A - CAPN1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1418G>T r.(?) p.(Arg473Leu) Paternal (confirmed) - likely pathogenic (recessive) g.64973998G>T g.65206527G>T - - CAPN1_000028 - PubMed: Travaglini 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 89 HSP gene panel IMD FamPat PubMed: Travaglini 2017 - M no Italy - - - - - 1 Johan den Dunnen
?/. - c.1456C>T r.(?) p.(Arg486Cys) Unknown - VUS g.64974036C>T - CAPN1(NM_001198868.2):c.1456C>T (p.R486C) - CAPN1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1474G>A r.(?) p.(Gly492Arg) Unknown - VUS g.64974054G>A g.65206583G>A CAPN1(NM_001198868.1):c.1474G>A (p.G492R), CAPN1(NM_001198868.2):c.1474G>A (p.G492R) - CAPN1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1474G>A r.(?) p.(Gly492Arg) Unknown - VUS g.64974054G>A g.65206583G>A CAPN1(NM_001198868.1):c.1474G>A (p.G492R), CAPN1(NM_001198868.2):c.1474G>A (p.G492R) - CAPN1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1474G>A r.(?) p.(Gly492Arg) Unknown - likely benign g.64974054G>A - CAPN1(NM_001198868.1):c.1474G>A (p.G492R), CAPN1(NM_001198868.2):c.1474G>A (p.G492R) - CAPN1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1534C>T r.(?) p.(Arg512Cys) Both (homozygous) - pathogenic (recessive) g.64974114C>T g.65206643C>T - - CAPN1_000021 - PubMed: Lambe 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES IMD FamPatII4 PubMed: Lambe 2018 2-generation family, 1 affected (2 stillborn F), unaffected heterozygous carrier parents/relatives F - - - - - - - 1 Johan den Dunnen
+/. - c.1534C>T r.(?) p.(Arg512Cys) Both (homozygous) - pathogenic (recessive) g.64974114C>T g.65206643C>T - - CAPN1_000021 - PubMed: Wang 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES SPG FamTun66273/Tun66275 PubMed: Wang 2016 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents - - Tunisia - - - - - 2 Johan den Dunnen
+/. 14 c.1579C>T r.(?) p.(Gln527*) Both (homozygous) - pathogenic (recessive) g.64974264C>T g.65206793C>T - - CAPN1_000002 - PubMed: Gan-Or 2016, Journal: Gan-Or 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - - SPG - PubMed: Gan-Or 2016, Journal: Gan-Or 2016 5-geneation family, 8 affecteds (2F, 6M), unaffected carrier parents F;M yes Morocco - - - - - 6 Johan den Dunnen
-?/. - c.1597C>T r.(?) p.(Pro533Ser) Unknown - likely benign g.64974282C>T - CAPN1(NM_001198868.1):c.1597C>T (p.P533S) - CAPN1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 14i c.1605+5G>A r.1566_1605del p.Glu523Lysfs*28 Paternal (confirmed) - pathogenic (recessive) g.64974295G>A g.65206824G>A - - CAPN1_000004 - PubMed: Gan-Or 2016, Journal: Gan-Or 2016 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - SPG - PubMed: Gan-Or 2016, Journal: Gan-Or 2016 5-geenration family, 2 affecteds (F, M) F;M no United States idaho/Utah - - - - 2 Johan den Dunnen
+?/. - c.1605+5G>A r.spl? p.? Unknown - likely pathogenic g.64974295G>A - - - CAPN1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1612C>T r.(?) p.(Leu538Phe) Unknown - VUS g.64975532C>T - CAPN1(NM_001198868.2):c.1612C>T (p.L538F) - CAPN1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1664C>T r.(?) p.(Ala555Val) Unknown - VUS g.64975584C>T g.65208113C>T CAPN1(NM_001198868.1):c.1664C>T (p.A555V) - CAPN1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1699C>T r.(?) p.(Arg567Trp) Unknown - VUS g.64975703C>T - CAPN1(NM_001198868.1):c.1699C>T (p.R567W) - CAPN1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1766C>T r.(?) p.(Ser589Leu) Unknown - VUS g.64976830C>T - CAPN1(NM_001198868.2):c.1766C>T (p.S589L), CAPN1(NM_005186.4):c.1766C>T (p.S589L) - SLC22A20_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1767G>A r.(?) p.(Ser589=) Unknown - benign g.64976831G>A g.65209360G>A CAPN1(NM_001198868.1):c.1767G>A (p.S589=) - SLC22A20_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1781T>C r.(?) p.(Val594Ala) Unknown - likely benign g.64976845T>C g.65209374T>C CAPN1(NM_001198868.1):c.1781T>C (p.V594A), CAPN1(NM_001198868.2):c.1781T>C (p.V594A) - SLC22A20_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1781T>C r.(?) p.(Val594Ala) Unknown - likely benign g.64976845T>C - CAPN1(NM_001198868.1):c.1781T>C (p.V594A), CAPN1(NM_001198868.2):c.1781T>C (p.V594A) - SLC22A20_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1829T>G r.(?) p.(Phe610Cys) Unknown - VUS g.64977354T>G - CAPN1(NM_001198868.2):c.1829T>G (p.F610C) - SLC22A20_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2026G>A r.(?) p.(Val676Ile) Unknown - likely benign g.64977890G>A - CAPN1(NM_001198868.2):c.2026G>A (p.V676I) - SLC22A20_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2059+14A>G r.(=) p.(=) Unknown - benign g.64977937A>G g.65210466A>G - - SLC22A20_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2118+1G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.64978344G>T g.65210873G>T - - CAPN1_000029 - PubMed: Shetty 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES IMD case1 PubMed: Shetty 2018 4-generation family, 1 affected, unaffected heterozygous carrier parents F yes Japan - - - - - 1 Johan den Dunnen
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.