Full data view for gene CAV3

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
Information The variants shown are described using the NM_033337.2 transcript reference sequence.

457 entries on 5 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     
?/. 1 c.-122C>T r.(?) p.(=) Parent #1 - VUS g.8775441C>T g.8733755C>T - - CAV3_000035 - - - rs918317 Germline - 0.00-0.04 - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.-106G>A r.(?) p.(=) Parent #1 - benign g.8775457G>A g.8733771G>A - - CAV3_000062 - - - rs2072583 Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
?/. 1 c.-106G>A r.(?) p.(=) Parent #1 - VUS g.8775457G>A g.8733771G>A - - CAV3_000062 - - - rs2072583 Germline - 0.20-0.24 - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.-37G>A r.(?) p.(=) Parent #1 - VUS g.8775526G>A g.8733840G>A - - CAV3_000050 - - - rs116840771 Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
?/. 1 c.-37G>A r.(?) p.(=) Parent #1 - VUS g.8775526G>A g.8733840G>A - - CAV3_000050 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Netherlands - - - - - 1 Ieke Ginjaar
-?/. - c.-37G>A r.(?) p.(=) Unknown - likely benign g.8775526G>A g.8733840G>A CAV3(NM_033337.3):c.-37G>A - CAV3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-37G>A r.(?) p.(=) Unknown - benign g.8775526G>A - CAV3(NM_033337.3):c.-37G>A - CAV3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-10dup r.(?) p.(=) Unknown - benign g.8775553dup g.8733867dup - - CAV3_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.-1G>A r.(?) p.(?) Unknown - VUS g.8775562G>A g.8733876G>A - - CAV3_000066 from website {DBsub-Emory} - - - Unknown - - - - - DNA SEQ - - ? - - - - - (United States) - - - - - 1 Madhuri Hegde
-/. - c.-1G>A r.(?) p.(=) Unknown - benign g.8775562G>A g.8733876G>A CAV3(NM_033337.2):c.-1G>A, CAV3(NM_033337.3):c.-1G>A - CAV3_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1G>A r.(?) p.(=) Unknown - likely benign g.8775562G>A g.8733876G>A CAV3(NM_033337.2):c.-1G>A, CAV3(NM_033337.3):c.-1G>A - CAV3_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_2_ c.(?_-1)_(*1_?)del r.0 p.0 Parent #1 - pathogenic g.(?_8775562)_(8787554_?)del - - - CAV3_000072 1.6 Mb deletion from LMCD1_CIDEC; de novo, in patient PubMed: Gunnarsson 2010 - - De novo - - - - - DNA arraySNP - - del 3pterp25 - PubMed: Gunnarsson 2010 - F - Sweden white - - - - 1 Johan den Dunnen
+/. 1 c.10_17del r.(?) p.(Glu4Hisfs*17) Both (homozygous) - pathogenic g.8775572_8775579del g.8733886_8733893del - - CAV3_000093 variant apparently homozygous; 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.13dup r.(?) p.(Glu5GlyfsTer19) Maternal (confirmed) - pathogenic g.8775575dup g.8733889dup 13insG - CAV3_000070 - PubMed: Traverso 2008 - - Germline - - - - - DNA arraySNP - - RMD2 - PubMed: Traverso 2008 3-generation family, young daugther carries deletion F - Italy - - - - - 1 Johan den Dunnen
+/. 1 c.13dup r.(?) p.(Glu5GlyfsTer19) Maternal (confirmed) - pathogenic g.8775575dup g.8733889dup 13insG - CAV3_000070 - PubMed: Traverso 2008 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Traverso 2008 unaffected mother/brother 18487559-Pat1 - - Italy - - - - - 2 Johan den Dunnen
-/. 1 c.27C>T r.(?) p.(=) Parent #1 - benign g.8775589C>T g.8733903C>T - - CAV3_000024 - - - rs1974763 Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
-/. 1 c.27C>T r.(?) p.(=) Parent #1 - benign g.8775589C>T g.8733903C>T - - CAV3_000024 - PubMed: Koopmann 2007 - rs1974763 Germline - - 16/78 - - DNA SEQ - - BRGDA - PubMed: Koopmann 2007 - - - Netherlands - - - - - 16 Johan den Dunnen
-/. 1 c.27C>T r.(?) p.(=) Parent #1 - benign g.8775589C>T g.8733903C>T - - CAV3_000024 - - - rs1974763 Germline - 1/42 - - - DNA SEQ - - LGMD - - - - - United Kingdom (Great Britain) - - - - - 1 Ottie O'Brien
-/. 1 c.27C>T r.(?) p.(=) Parent #1 - benign g.8775589C>T g.8733903C>T - - CAV3_000024 - - - rs1974763 Germline - - - - - DNA SEQ - - Healthy/Control - - - - - Netherlands - - - - - 1 Ieke Ginjaar
-/. 1 c.27C>T r.(?) p.(=) Unknown - benign g.8775589C>T g.8733903C>T - - CAV3_000024 from website {DBsub-Emory} - - rs1974763 Unknown - - - - - DNA SEQ - - ? - - - - - (United States) - - - - - 1 Madhuri Hegde
-/. - c.27C>T r.(?) p.(Leu9=) Unknown - benign g.8775589C>T g.8733903C>T CAV3(NM_033337.2):c.27C>T (p.L9=), CAV3(NM_033337.3):c.27C>T (p.L9=) - CAV3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.27C>T r.(?) p.(Leu9=) Unknown - benign g.8775589C>T g.8733903C>T CAV3(NM_033337.2):c.27C>T (p.L9=), CAV3(NM_033337.3):c.27C>T (p.L9=) - CAV3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.28G>A r.(?) p.(Glu10Lys) Unknown - VUS g.8775590G>A g.8733904G>A CAV3(NM_033337.3):c.28G>A (p.E10K) - CAV3_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.39C>T r.(?) p.(Ile13=) Unknown - likely benign g.8775601C>T g.8733915C>T - - CAV3_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.40G>A r.(?) p.(Val14Ile) Parent #1 - VUS g.8775602G>A g.8733916G>A - - CAV3_000067 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.40G>A r.(?) p.(Val14Ile) Parent #1 - VUS g.8775602G>A g.8733916G>A - - CAV3_000067 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.40G>A r.(?) p.(Val14Ile) Unknown - benign g.8775602G>A g.8733916G>A CAV3(NM_033337.2):c.40G>A (p.V14I), CAV3(NM_033337.3):c.40G>A (p.V14I) - CAV3_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.40G>A r.(?) p.(Val14Ile) Unknown - VUS g.8775602G>A g.8733916G>A CAV3(NM_033337.2):c.40G>A (p.V14I), CAV3(NM_033337.3):c.40G>A (p.V14I) - CAV3_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.40G>A r.(?) p.(Val14Ile) Unknown - likely pathogenic g.8775602G>A g.8733916G>A - - CAV3_000067 - PubMed: Izumi 2015, Izumi 2020 (submitted) - rs121909281 Germline - - - - - DNA SEQ, SEQ-NG - 42 gene panel MD Dys149-1 PubMed: Izumi 2015, Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
-?/. - c.40G>A r.(?) p.(Val14Ile) Unknown - likely benign g.8775602G>A g.8733916G>A CAV3(NM_033337.2):c.40G>A (p.V14I), CAV3(NM_033337.3):c.40G>A (p.V14I) - CAV3_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.40G>C r.(?) p.(Val14Leu) Parent #1 - pathogenic g.8775602G>C g.8733916G>C - - CAV3_000058 not in 400 control chromosomes PubMed: Cronck 2007, OMIM:var0020 - - Germline - - - - - DNA DHPLC, SEQ - - SIDS - PubMed: Cronck 2007, OMIM:var0020 - M - United States African 6m - - - 1 Johan den Dunnen
?/. - c.58A>C r.(?) p.(Lys20Gln) Unknown - VUS g.8775620A>C - - - CAV3_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.79C>G r.(?) p.(Arg27Gly) Maternal (confirmed) - pathogenic g.8775641C>G g.8733955C>G - - CAV3_000031 - PubMed: Voermans 2008 - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Voermans 2008 son of 61941.1 M - Netherlands - >16y - - - 1 Ieke Ginjaar
+/. 1 c.79C>G r.(?) p.(Arg27Gly) Parent #1 - pathogenic g.8775641C>G g.8733955C>G - - CAV3_000031 - PubMed: Voermans 2008 - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Voermans 2008 mother of 61941.2 F - Netherlands - >37y - - - 1 Ieke Ginjaar
+/. - c.79C>G r.(?) p.(Arg27Gly) Unknown - pathogenic g.8775641C>G - CAV3(NM_033337.2):c.79C>G (p.(Arg27Gly)) - CAV3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Parent #1 - pathogenic g.8775642G>A g.8733956G>A - - CAV3_000007 de novo, in patient PubMed: Carbone, OMIM:var0007 - - De novo - - BsaI- - - DNA SEQ - - hCK - PubMed: Carbone, OMIM:var0007 - M - Italy - - - - - 1 Johan den Dunnen
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Paternal (confirmed) - pathogenic g.8775642G>A g.8733956G>A 77G>A (R26Q) - CAV3_000007 not in 400 control chromosomes PubMed: Betz 2001, OMIM:var0007 - - Germline - - BsaI- - - DNA SEQ - - RMD2 - PubMed: Vorgerd 1999 father of 11431690-FamBIII1 M - Germany - >48y - - - 1 Johan den Dunnen
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Parent #1 - pathogenic g.8775642G>A g.8733956G>A 77G>A (R26Q) - CAV3_000007 not in 200 control chromosomes; de novo, in patient PubMed: Vorgerd 2001, OMIM:var0007 - - De novo - - - - - DNA SEQ - - RMD2 - PubMed: Vorgerd 2001 - M - Germany - >24y - - - 1 Johan den Dunnen
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Parent #1 - pathogenic g.8775642G>A g.8733956G>A - - CAV3_000007 - PubMed: Tateyama, OMIM:var0007 - - Germline - - BsaI- - - DNA SEQ - - ? - PubMed: Tateyama, OMIM:var0007 - F - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Parent #1 - pathogenic g.8775642G>A g.8733956G>A - - CAV3_000007 - PubMed: Figarella-Branger, OMIM:var0007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Figarella-Branger, OMIM:var0007 - F - - - >71y - - - 1 Johan den Dunnen
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Parent #1 - pathogenic g.8775642G>A g.8733956G>A - - CAV3_000007 - PubMed: Yabe - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Yabe 8 affecteds 4 generation family - - Japan - - - - - 4 Johan den Dunnen
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Parent #1 - pathogenic g.8775642G>A g.8733956G>A - - CAV3_000007 de novo, in patient PubMed: Carbone, OMIM:var0007 - - De novo - - BsaI- - - DNA SEQ - - hCK - PubMed: Carbone, OMIM:var0007 - F - Italy - - - - - 1 Johan den Dunnen
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Parent #1 - pathogenic g.8775642G>A g.8733956G>A - - CAV3_000007 - PubMed: Yabe - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Yabe 3 affecteds 3 generation family - - Japan - - - - - 3 Johan den Dunnen
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Parent #1 - pathogenic g.8775642G>A g.8733956G>A - - CAV3_000007 - PubMed: Fee, PubMed: So - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Fee, PubMed: So 16 affecteds large family - - United States - - - - - 16 Johan den Dunnen
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Parent #1 - pathogenic g.8775642G>A g.8733956G>A - - CAV3_000007 - PubMed: Fulizio, OMIM:var0007 - - Germline - - - - - DNA SEQ - - hCK - PubMed: Fulizio, OMIM:var0007 mother carrier M - Italy - - - - - 2 Johan den Dunnen
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Parent #1 - pathogenic g.8775642G>A g.8733956G>A - - CAV3_000007 - PubMed: Aboumousa 2008 - - Germline - - BsaI- - - DNA SEQ - - LGMD - - relative of 18583131.H3 F - United Kingdom (Great Britain) - >22y - - - 1 Ottie O'Brien
+/. 1 c.80G>A r.80g>a p.Arg27Gln Parent #1 - pathogenic g.8775642G>A g.8733956G>A 77G>A - CAV3_000007 - PubMed: Roberts 2006, PubMed: Lo 2008 - - Germline - - BsaI- - - DNA, RNA RT-PCR, SEQ - - LGMD - PubMed: Roberts 2006, PubMed: Lo 2008 - F - Australia white - - - - 1 Maria Chiotis
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Maternal (confirmed) - pathogenic g.8775642G>A g.8733956G>A Arg26Gln - CAV3_000007 - PubMed: Schara 2002 - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Schara 2002 2-generation family, affected mother and son; son M - Germany - - - - - 1 Johan den Dunnen
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Parent #1 - pathogenic g.8775642G>A g.8733956G>A Arg26Gln - CAV3_000007 - PubMed: Schara 2002 - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Schara 2002 2-generation family, affected mother and son; mother F - Germany - >37y - - - 1 Johan den Dunnen
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Parent #1 - pathogenic g.8775642G>A g.8733956G>A - - CAV3_000007 control chromosomes PubMed: Carbone, OMIM:var0007 - - Germline - 0/204 - - - DNA SEQ - - Healthy/Control - PubMed: Carbone, OMIM:var0007 - - - Italy - - - - - 1 Johan den Dunnen
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Paternal (confirmed) - pathogenic g.8775642G>A g.8733956G>A 77G>A (R26Q) - CAV3_000007 not in 400 control chromosomes PubMed: Betz 2001, OMIM:var0007 - - Germline - - BsaI- - - DNA SEQ - - RMD2 - PubMed: Vorgerd 1999 sister of 11431690-FamBIII1 F - Germany - >17y - - - 1 Johan den Dunnen
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Paternal (confirmed) - pathogenic g.8775642G>A g.8733956G>A 77G>A (R26Q) - CAV3_000007 not in 400 control chromosomes PubMed: Betz 2001, OMIM:var0007 - - Germline - - BsaI- - - DNA SEQ - - RMD2 - PubMed: Vorgerd 1999 3-generation family, 5 affecteds M - Germany - >20y - - - 2 Johan den Dunnen
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Parent #1 - pathogenic g.8775642G>A g.8733956G>A - - CAV3_000007 - PubMed: Aboumousa 2008 - - Germline - - BsaI- - - DNA SEQ - - LGMD - PubMed: Aboumousa 2008 relative of 18583131.H2 F - United Kingdom (Great Britain) - >28y - - - 1 Ottie O'Brien
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Paternal (confirmed) - pathogenic g.8775642G>A g.8733956G>A 77G>A (R26Q) - CAV3_000007 not in 400 control chromosomes PubMed: Betz 2001, OMIM:var0007 - - Germline - - BsaI- - - DNA SEQ - - RMD2 - PubMed: Vorgerd 1999 aunt of 11431690-FamBIII1 F - Germany - >46y - - - 1 Johan den Dunnen
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Unknown - pathogenic g.8775642G>A g.8733956G>A - - CAV3_000007 - - - - Germline - - - - - DNA PCR, SEQ - - LGMD - - - M - Canada Asian - - - - 1 Tom Winder
+/. 1 c.80G>A r.(?) p.Arg27Gln Unknown - NA g.8775642G>A g.8733956G>A R26Q - CAV3_000007 expression cloning C2C12 cells, CAV3-GFP retention in Golgi influencing MG53/DYSF localisation, defective membrane repair PubMed: Cai 20029 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Parent #1 - pathogenic g.8775642G>A g.8733956G>A - - CAV3_000007 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel Healthy/Control, LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Parent #1 - pathogenic g.8775642G>A g.8733956G>A - - CAV3_000007 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Parent #1 - pathogenic g.8775642G>A g.8733956G>A - - CAV3_000007 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Parent #1 - pathogenic g.8775642G>A g.8733956G>A - - CAV3_000007 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.80G>A r.(?) p.(Arg27Gln) Paternal (confirmed) - pathogenic (dominant) g.8775642G>A g.8733956G>A - - CAV3_000007 - PubMed: Hiraide 2019 - - Germline - - - - - DNA SEQ - - BMD, RMD2 FamPatIII3 PubMed: Hiraide 2019 3-generation family, 3 affecteds mixed phenotype, carrier BMD mother M - Japan - - - - - 4 Johan den Dunnen
+/. - c.80G>A r.(?) p.(Arg27Gln) Parent #1 - pathogenic (dominant) g.8775642G>A g.8733956G>A - - CAV3_000007 - PubMed: Hiraide 2019 - - Germline - - - - - DNA SEQ - - RMD2 FamPatI2/II1 PubMed: Marston 2015 PatI2 (grandmother) and PatII1 (father) F;M - Jamaica - - - - - 2 Johan den Dunnen
+/. - c.80G>A r.(?) p.(Arg27Gln) Paternal (confirmed) - pathogenic (dominant) g.8775642G>A g.8733956G>A - - CAV3_000007 - PubMed: Hiraide 2019 - - Germline yes - - - - DNA SEQ - - RMD2 FamPatIII1 PubMed: Hiraide 2019 sister, carrier BMD F - Japan - - - - - 1 Johan den Dunnen
+/. - c.80G>A r.(?) p.(Arg27Gln) Unknown - pathogenic g.8775642G>A g.8733956G>A - - CAV3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Parent #1 - pathogenic (dominant) g.8775642G>A g.8733956G>A - - CAV3_000007 - PubMed: Magri 2015 - - Germline - - - - - DNA SEQ - - LGMD Fam5Pat1 PubMed: Magri 2015 - F - Italy - - - - - 1 Johan den Dunnen
+?/. - c.80G>A r.(?) p.(Arg27Gln) Unknown - likely pathogenic g.8775642G>A g.8733956G>A - - CAV3_000007 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
+/. - c.80G>A r.(?) p.(Arg27Gln) Unknown - pathogenic g.8775642G>A - - - CAV3_000007 - - - rs116840778 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.80G>A r.(?) p.(Arg27Gln) Unknown - pathogenic g.8775642G>A g.8733956G>A - - CAV3_000007 - MDCRC 2021, submitted - - Germline/De novo (untested) - - - - - DNA SEQ-NG - screened DMD, CAV3, COL6A1, COL6A2, COL6A3, CAPN3, DYSF, FLNC, LAMA2, SGCA, SGCD, SGCG, PLEC, SYNE1 DMD MDCRC/0119/B-131 MDCRC 2021, submitted - M no India - - - yes - 1 Lakshmi Bremadesam
?/. 1 c.80G>C r.(?) p.(Arg27Pro) Paternal (inferred) - VUS g.8775642G>C g.8733956G>C - - CAV3_000063 - - - - Germline - - - - - DNA SEQ - - LGMD - - - M - Germany - - - - - 1 Wolfram Kress
+/. 1 c.84C>A r.(?) p.(Asp28Glu) Parent #1 - pathogenic g.8775646C>A g.8733960C>A - - CAV3_000010 - PubMed: Fischer, PubMed: Ullrich 2011, OMIM:var0008 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Ullrich 2011 6 generation family, 14 affecteds - - Germany - - - - - 14 Johan den Dunnen
+/. 1 c.84C>A r.(?) p.(Asp28Glu) Parent #1 - pathogenic (dominant) g.8775646C>A g.8733960C>A - - CAV3_000010 - PubMed: Bennett 2009 - - Germline - - - - - DNA SEQ - - LGMD B1141.1 PubMed: Bennett 2009 - - - United States - - - - - 1 Johan den Dunnen
+/. 1 c.85C>A r.(?) p.(Pro29Thr) Maternal (confirmed) - pathogenic g.8775647C>A g.8733961C>A - - CAV3_000020 - PubMed: van den Bergh - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: van den Bergh Belgium/Italian descent (mother affected carrier) F - Belgium;Italy - - - - - 1 Johan den Dunnen
+/. 1 c.86C>T r.(?) p.(Pro29Leu) Parent #1 - pathogenic g.8775648C>T g.8733962C>T - - CAV3_000013 - PubMed: Merlini, PubMed: Capanni, OMIM:var0012 - - Germline - - - - - DNA SEQ - - hCK - PubMed: Merlini, PubMed: Capanni, OMIM:var0012 mother and son M;F - Italy - - - - - 2 Johan den Dunnen
+/. 1 c.86C>T r.(?) p.(Pro29Leu) Parent #1 - pathogenic g.8775648C>T g.8733962C>T - - CAV3_000013 control chromosomes PubMed: Merlini, PubMed: Capanni, OMIM:var0012 - - Germline - 0/300 - - - DNA SEQ - - Healthy/Control - PubMed: Merlini, PubMed: Capanni, OMIM:var0012 - - - Italy - - - - - 1 Johan den Dunnen
?/. - c.95T>C r.(?) p.(Ile32Thr) Unknown - VUS g.8775657T>C g.8733971T>C - - CAV3_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.99C>A r.(?) p.(Asn33Lys) Unknown - likely pathogenic g.8775661C>A g.8733975C>A - - CAV3_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.99C>A r.(?) p.(Asn33Lys) Unknown - likely pathogenic g.8775661C>A g.8733975C>A - - CAV3_000106 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
+/. - c.99C>A r.(?) p.(Asn33Lys) Parent #1 - pathogenic (dominant) g.8775661C>A g.8733975C>A - - CAV3_000106 - PubMed: Granger 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - MYOP Pat8 PubMed: Granger 2022 - F - United States - - - - - 1 Johan den Dunnen
+/. 1 c.99C>G r.(?) p.(Asn33Lys) Parent #1 - pathogenic g.8775661C>G g.8733975C>G - - CAV3_000038 - PubMed: Fulizio, OMIM:var0014 - - Germline - - - - - DNA SEQ - - ? - PubMed: Fulizio, OMIM:var0014 mother and daugther F;F - Italy - - - - - 2 Johan den Dunnen
+/. 1 c.99C>G r.(?) p.(Asn33Lys) Parent #1 - pathogenic g.8775661C>G g.8733975C>G - - CAV3_000038 - PubMed: Sugie 2005 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Sugie 2005 mother and son M;F - Japan - - - - - 2 Johan den Dunnen
+/. 1 c.99C>G r.(?) p.(Asn33Lys) Parent #1 - pathogenic g.8775661C>G g.8733975C>G - - CAV3_000038 control chromosomes PubMed: Sugie 2005 - - Germline - 0/200 - - - DNA SEQ - - Healthy/Control - PubMed: Sugie 2005 - - - Japan - - - - - 1 Johan den Dunnen
+?/. - c.99C>G r.(?) p.(Asn33Lys) Unknown - likely pathogenic g.8775661C>G - - - CAV3_000038 - - - rs1008642 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.99C>T r.(?) p.(=) Parent #1 - benign g.8775661C>T g.8733975C>T - - CAV3_000016 - - - rs1008642 Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
-/. 1 c.99C>T r.(?) p.(=) Parent #1 - benign g.8775661C>T g.8733975C>T - - CAV3_000016 - PubMed: Koopmann 2007 - rs1008642 Germline - - 16/78 - - DNA SEQ - - BRGDA - PubMed: Koopmann 2007 - - - Netherlands - - - - - 16 Johan den Dunnen
-/. 1 c.99C>T r.(?) p.(=) Parent #1 - benign g.8775661C>T g.8733975C>T - - CAV3_000016 - - - rs1008642 Germline - - - - - DNA SEQ - - LGMD - - relative of 18583131.H3 F - United Kingdom (Great Britain) - >22y - - - 1 Ottie O'Brien
-/. 1 c.99C>T r.(?) p.(=) Parent #1 - benign g.8775661C>T g.8733975C>T - - CAV3_000016 - PubMed: Hayashi - rs1008642 Germline - ? - - - DNA SSCA - - Healthy/Control - PubMed: Hayashi - - - Japan - - - - - 1 Johan den Dunnen
-/. 1 c.99C>T r.(?) p.(=) Parent #1 - benign g.8775661C>T g.8733975C>T - - CAV3_000016 - PubMed: Fee - rs1008642 Germline - ? - - - DNA SSCA - - Healthy/Control - PubMed: Fee - - - United States - - - - - 1 Johan den Dunnen
-/. 1 c.99C>T r.(?) p.(=) Parent #1 - benign g.8775661C>T g.8733975C>T - - CAV3_000016 - - - rs1008642 Germline - 7/42 - - - DNA SSCA - - LGMD - - - - - United Kingdom (Great Britain) - - - - - 7 Ottie O'Brien
-/. 1 c.99C>T r.(?) p.(=) Parent #1 - benign g.8775661C>T g.8733975C>T - - CAV3_000016 - - - rs1008642 Germline - ? - - - DNA SSCA - - Healthy/Control - - - - - Netherlands - - - - - 1 Ieke Ginjaar
-/. 1 c.99C>T r.(?) p.(=) Parent #1 - benign g.8775661C>T g.8733975C>T - - CAV3_000016 - - - rs1008642 Germline - - - - - DNA SEQ - - LGMD - PubMed: Aboumousa 2008 relative of 18583131.H2 F - United Kingdom (Great Britain) - >28y - - - 1 Ottie O'Brien
-/. 1 c.99C>T r.(?) p.(=) Unknown - benign g.8775661C>T g.8733975C>T - - CAV3_000016 from website {DBsub-Emory} - - rs1008642 Unknown - - - - - DNA SEQ - - ? - - - - - (United States) - - - - - 1 Madhuri Hegde
-/. - c.99C>T r.(?) p.(Asn33=) Unknown - benign g.8775661C>T g.8733975C>T CAV3(NM_033337.2):c.99C>T (p.N33=), CAV3(NM_033337.3):c.99C>T (p.N33=) - CAV3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.99C>T r.(?) p.(Asn33=) Unknown - benign g.8775661C>T g.8733975C>T CAV3(NM_033337.2):c.99C>T (p.N33=), CAV3(NM_033337.3):c.99C>T (p.N33=) - CAV3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.99C>T r.(?) p.(Asn33=) Unknown - benign g.8775661C>T g.8733975C>T CAV3(NM_033337.2):c.99C>T (p.N33=), CAV3(NM_033337.3):c.99C>T (p.N33=) - CAV3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.99C>T r.(?) p.(Asn33=) Unknown - benign g.8775661C>T g.8733975C>T CAV3(NM_033337.2):c.99C>T (p.N33=), CAV3(NM_033337.3):c.99C>T (p.N33=) - CAV3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.99C>T r.(?) p.(=) Unknown ACMG likely benign g.8775661C>T - - - CAV3_000016 - - 31709 rs1008642 De novo - - - - - DNA SEQ-NG-I Blood WES LGMD1C Patient 1 PubMed: Zehravi 2021 - M yes Pakistan Asian - - Yes No 1 Mehwish Zehravi
-/. 1 c.99C>T r.(=) p.(=) Unknown ACMG likely benign g.8775661C>T g.8733975C>T - - CAV3_000016 - Pub Med: Zehravi, 2020, submitted 31709 rs1008642 De novo ? - - - - DNA SEQ-NG-I Blood WES LGMD1C Patient 3 PubMed: Zehravi 2021 - M yes Pakistan Asian - - Yes None 1 Mehwish Zehravi
?/. - c.99del r.(?) p.(Asn33Lysfs*4) Unknown ACMG VUS g.8775661del g.8733975del - - CAV3_000126 - PubMed: Isbister 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - CM AJI1 PubMed: Isbister 2020 - - - Australia - - - - - 1 Johan den Dunnen
+/. 1 c.100G>A r.100g>a p.Glu34Lys Parent #1 - pathogenic g.8775662G>A g.8733976G>A - - CAV3_000040 not in 200 control chromosomes PubMed: Lo 2008, Lo WMS2005 L.P.1.02 - - Germline - - MnlI- - - DNA, RNA RT-PCR, SEQ - - LGMD - PubMed: Lo 2008, Lo WMS2005 L.P.1.02 - F - Australia white - - - - 1 Maria Chiotis
+?/. - c.100G>A r.(?) p.(Glu34Lys) Parent #1 - likely pathogenic (recessive) g.8775662G>A g.8733976G>A - - CAV3_000040 - PubMed: Punetha 2016 - - Germline/De novo (untested) - 1/94 cases - - - DNA SEQ, SEQ-NG - gene panel, WES LGMD Pat25 PubMed: Punetha 2016 analysis 94 myopathy cases - - - - - - - - 1 Johan den Dunnen
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