Unique variants in the CAV3 gene

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.

124 entries on 2 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     
?/. 1 1 c.-122C>T r.(?) p.(=) - VUS g.8775441C>T g.8733755C>T - - CAV3_000035 - - - rs918317 Germline - 0.00-0.04 - - - Johan den Dunnen
-/., ?/. 2 1 c.-106G>A r.(?) p.(=) - benign, VUS g.8775457G>A g.8733771G>A - - CAV3_000062 - - - rs2072583 Germline - 0.20-0.24 - - - Johan den Dunnen, Andreas Laner
-?/., ?/. 3 1 c.-37G>A r.(?) p.(=) - likely benign, VUS g.8775526G>A g.8733840G>A - - CAV3_000050 VKGL data sharing initiative Nederland - - rs116840771 CLASSIFICATION record, Germline - - - - - Ieke Ginjaar, Andreas Laner, VKGL-NL_Nijmegen
-/. 1 - c.-10dup r.(?) p.(=) - benign g.8775553dup g.8733867dup - - CAV3_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/., ?/. 3 1 c.-1G>A r.(?) p.(=), p.(?) - benign, likely benign, VUS g.8775562G>A g.8733876G>A CAV3(NM_033337.2):c.-1G>A - CAV3_000066 from website {DBsub-Emory}, VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Unknown - - - - - Madhuri Hegde, VKGL-NL_Rotterdam, VKGL-NL_AMC
+/. 1 _1_2_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(?_8775562)_(8787554_?)del - - - CAV3_000072 1.6 Mb deletion from LMCD1_CIDEC; de novo, in patient PubMed: Gunnarsson 2010 - - De novo - - - - - Johan den Dunnen
+/. 1 1 c.10_17del r.(?) p.(Glu4Hisfs*17) - pathogenic g.8775572_8775579del g.8733886_8733893del - - CAV3_000093 variant apparently homozygous; no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 2 1 c.13dup r.(?) p.(Glu5GlyfsTer19) - pathogenic g.8775575dup g.8733889dup 13insG - CAV3_000070 - PubMed: Traverso 2008 - - Germline - - - - - Johan den Dunnen
-/. 7 1 c.27C>T r.(?) p.(=), p.(Leu9=) - benign g.8775589C>T g.8733903C>T CAV3(NM_033337.2):c.27C>T (p.L9=) - CAV3_000024 from website {DBsub-Emory}, VKGL data sharing initiative Nederland PubMed: Koopmann 2007 - rs1974763 CLASSIFICATION record, Germline, Unknown - 1/42 16/78 - - Johan den Dunnen, Ieke Ginjaar, Madhuri Hegde, Ottie O'Brien, Andreas Laner, VKGL-NL_Utrecht, VKGL-NL_AMC
?/. 1 - c.28G>A r.(?) p.(Glu10Lys) - VUS g.8775590G>A g.8733904G>A CAV3(NM_033337.2):c.28G>A (p.E10K) - CAV3_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.39C>T r.(?) p.(Ile13=) - likely benign g.8775601C>T g.8733915C>T - - CAV3_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/., -/., -?/., ?/. 6 1 c.40G>A r.(?) p.(Val14Ile) - benign, likely benign, likely pathogenic, VUS g.8775602G>A g.8733916G>A CAV3(NM_033337.2):c.40G>A (p.V14I) - CAV3_000067 no second variant, VKGL data sharing initiative Nederland PubMed: Izumi 2015, Izumi 2020 (submitted), PubMed: Nallamilli 2018 - rs121909281 CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_AMC, Rumiko Izumi
+/. 1 1 c.40G>C r.(?) p.(Val14Leu) - pathogenic g.8775602G>C g.8733916G>C - - CAV3_000058 not in 400 control chromosomes PubMed: Cronck 2007, OMIM:var0020 - - Germline - - - - - Johan den Dunnen
+/. 2 1 c.79C>G r.(?) p.(Arg27Gly) - pathogenic g.8775641C>G g.8733955C>G - - CAV3_000031 - PubMed: Voermans 2008 - - Germline - - - - - Ieke Ginjaar
+/., +?/. 32 1 c.80G>A r.(?), r.80g>a p.(Arg27Gln), p.Arg27Gln - likely pathogenic, NA, pathogenic, pathogenic (dominant) g.8775642G>A g.8733956G>A 77G>A, 77G>A (R26Q), Arg26Gln, R26Q - CAV3_000007 combination of variants not reported, control chromosomes, de novo, in patient, no second variant, 4 more items PubMed: Aboumousa 2008, PubMed: Betz 2001, OMIM:var0007, PubMed: Cai 20029, PubMed: Fee, PubMed: So, 12 more items - rs116840778 CLASSIFICATION record, De novo, Germline, In vitro (cloned), Unknown yes 0/204, 1/1001 cases BsaI- - - Johan den Dunnen, Madhuri Hegde, Ottie O'Brien, Maria Chiotis, Tom Winder, VKGL-NL_Nijmegen, MobiDetails
?/. 1 1 c.80G>C r.(?) p.(Arg27Pro) - VUS g.8775642G>C g.8733956G>C - - CAV3_000063 - - - - Germline - - - - - Wolfram Kress
+/. 2 1 c.84C>A r.(?) p.(Asp28Glu) - pathogenic, pathogenic (dominant) g.8775646C>A g.8733960C>A - - CAV3_000010 - PubMed: Bennett 2009, PubMed: Fischer, PubMed: Ullrich 2011, OMIM:var0008 - - Germline - - - - - Johan den Dunnen
+/. 1 1 c.85C>A r.(?) p.(Pro29Thr) - pathogenic g.8775647C>A g.8733961C>A - - CAV3_000020 - PubMed: van den Bergh - - Germline - - - - - Johan den Dunnen
+/. 2 1 c.86C>T r.(?) p.(Pro29Leu) - pathogenic g.8775648C>T g.8733962C>T - - CAV3_000013 control chromosomes PubMed: Merlini, PubMed: Capanni, OMIM:var0012 - - Germline - 0/300 - - - Johan den Dunnen
?/. 1 - c.95T>C r.(?) p.(Ile32Thr) - VUS g.8775657T>C g.8733971T>C - - CAV3_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 2 - c.99C>A r.(?) p.(Asn33Lys) - likely pathogenic g.8775661C>A g.8733975C>A - - CAV3_000106 combination of variants not reported, VKGL data sharing initiative Nederland PubMed: Topf 2020 - - CLASSIFICATION record, Germline - 1/1001 cases - - - Johan den Dunnen, VKGL-NL_Nijmegen
+/., +?/. 4 1 c.99C>G r.(?) p.(Asn33Lys) - likely pathogenic, pathogenic g.8775661C>G g.8733975C>G - - CAV3_000038 control chromosomes PubMed: Fulizio, OMIM:var0014, PubMed: Sugie 2005 - rs1008642 Germline, Unknown - 0/200 - - - Johan den Dunnen, MobiDetails
-/. 15 1 c.99C>T r.(=), r.(?) p.(=), p.(Asn33=) ACMG benign, likely benign g.8775661C>T g.8733975C>T CAV3(NM_033337.2):c.99C>T (p.N33=) - CAV3_000016 from website {DBsub-Emory}, VKGL data sharing initiative Nederland Pub Med: Zehravi, 2020, submitted, PubMed: Fee, PubMed: Hayashi, PubMed: Koopmann 2007 31709 rs1008642 CLASSIFICATION record, De novo, Germline, Unknown ? 7/42, ? 16/78 - - Johan den Dunnen, Ieke Ginjaar, Madhuri Hegde, Ottie O'Brien, Andreas Laner, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC, Mehwish Zehravi
?/. 1 - c.99del r.(?) p.(Asn33Lysfs*4) ACMG VUS g.8775661del g.8733975del - - CAV3_000126 - PubMed: Isbister 2020 - - Germline - - - - - Johan den Dunnen
+/., +?/. 2 1 c.100G>A r.(?), r.100g>a p.(Glu34Lys), p.Glu34Lys - likely pathogenic (recessive), pathogenic g.8775662G>A g.8733976G>A - - CAV3_000040 not in 200 control chromosomes PubMed: Lo 2008, Lo WMS2005 L.P.1.02, PubMed: Punetha 2016 - - Germline, Germline/De novo (untested) - 1/94 cases MnlI- - - Johan den Dunnen, Maria Chiotis
?/. 1 - c.100G>T r.(?) p.(Glu34*) ACMG VUS g.8775662G>T g.8733976G>T - - CAV3_000127 - PubMed: Isbister 2020 - - Germline - - - - - Johan den Dunnen
+/., +?/. 3 1i c.114+2T>C r.spl?, r.[114_115ins114+1_114+41;114+2T>C, 73_114del, =] p.?, p.[Val39Alafs*20, Val25_Lys38del, =] - likely pathogenic, pathogenic g.8775678T>C g.8733992T>C 102+2T>C - CAV3_000051 not in 50 control chromosomes, VKGL data sharing initiative Nederland PubMed: Muller 2006, PubMed: Ullrich 2011 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
-?/. 1 - c.114+6C>T r.(=) p.(=) - likely benign g.8775682C>T g.8733996C>T CAV3(NM_033337.2):c.114+6C>T - CAV3_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., ?/. 6 1i c.114+26G>A r.(=), r.(?) p.(=) - benign, VUS g.8775702G>A g.8734016G>A - - CAV3_000032 from website {DBsub-Emory}, no interpretation available; 194 heterozygous; Clinindb (India), 2 more items PubMed: Koopmann 2007, PubMed: Narang 2020, Journal: Narang 2020 - rs11922879 CLASSIFICATION record, Germline, Unknown - 194/2795 individuals, 7/2795 individuals 4/78 - - Johan den Dunnen, Ieke Ginjaar, Madhuri Hegde, VKGL-NL_Nijmegen, Mohammed Faruq
?/. 1 1i c.114+99T>C r.(?) p.(=) - VUS g.8775775T>C g.8734089T>C - - CAV3_000033 - - - rs4686299 Germline - 0.00 - - - Johan den Dunnen
-?/. 1 - c.115-3022G>A r.(=) p.(=) - likely benign g.8784190G>A - CAV3(NM_033337.2):c.115-3022G>A - CAV3_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/., ?/. 2 1i c.115-89G>T r.(=), r.(?) p.(=) - benign, VUS g.8787123G>T g.8745437G>T - - CAV3_000034 VKGL data sharing initiative Nederland - - rs13060135 CLASSIFICATION record, Germline - 0.00-0.18 - - - Johan den Dunnen, VKGL-NL_Nijmegen
-/. 1 1i c.115-47_115-29del r.(=) p.(=) - benign g.8787165_8787183del g.8745479_8745497del - - CAV3_000075 - - - rs139242554 Germline - - - - - Andreas Laner
-/. 4 1i c.115-45_115-29del r.(=), r.(?) p.(=) - benign g.8787167_8787183del g.8745481_8745497del 115-31_-47delAGCGGGTGGCTTCTGTG, 115-45_115-29delCGGGTGGCTTCTGTGAG - CAV3_000047 from website {DBsub-Emory}, VKGL data sharing initiative Nederland PubMed: Koopmann 2007 - - CLASSIFICATION record, Germline, Unknown - - 17/78 - - Johan den Dunnen, Ieke Ginjaar, Madhuri Hegde, VKGL-NL_Nijmegen
-/. 5 1i c.115-23G>C r.(=), r.(?) p.(=) - benign g.8787189G>C g.8745503G>C - - CAV3_000048 from website {DBsub-Emory}, VKGL data sharing initiative Nederland PubMed: Koopmann 2007 - rs57159780 CLASSIFICATION record, Germline, Unknown - - 9/78 - - Johan den Dunnen, Ieke Ginjaar, Madhuri Hegde, Andreas Laner, VKGL-NL_Nijmegen
-/. 1 - c.115-13G>C r.(=) p.(=) - benign g.8787199G>C g.8745513G>C CAV3(NM_033337.2):c.115-13G>C - CAV3_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 1i_2_ c.(114+1_115-1)_(*1_?)del r.0? p.0? - pathogenic g.(8775677_8787211)_(8810000_?)del - - - CAV3_000071 80 Kb deletion rs237872_rs6443211 covering OTRX and CAV3 PubMed: Traverso 2008 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.122T>C r.(?) p.(Phe41Ser) - likely pathogenic (dominant) g.8787219T>C g.8745533T>C - - CAV3_000117 - PubMed: Izumi 2015, Izumi 2020 (submitted) - - Germline - - - - - Johan den Dunnen
-/. 10 2 c.123T>C r.(?) p.(=), p.(Phe41=) - benign g.8787220T>C g.8745534T>C CAV3(NM_033337.2):c.123T>C (p.F41=) - CAV3_000025 from website {DBsub-Emory}, VKGL data sharing initiative Nederland PubMed: Koopmann 2007 - rs13087941 CLASSIFICATION record, Germline, Unknown - 4/42 29/78 - - Johan den Dunnen, Ieke Ginjaar, Lab Müller-Reible, Madhuri Hegde, Ottie O'Brien, Andreas Laner, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 2 c.125A>C r.(?) p.(Glu42Ala) - VUS g.8787222A>C g.8745536A>C - - CAV3_000094 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 2 c.129_140del r.(?) p.(Asp43_Ala46del) - VUS g.8787226_8787237del g.8745540_8745551del - - CAV3_000095 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/., ?/. 2 - c.130G>A r.(?) p.(Val44Met) ACMG likely pathogenic, VUS g.8787227G>A g.8745541G>A - - CAV3_000122 ACMG: PM2, PM5, PP3 class 3, combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - - - Johan den Dunnen, Andreas Laner
+/. 4 2 c.131T>A r.(?) p.(Val44Glu) - pathogenic g.8787228T>A g.8745542T>A - - CAV3_000043 control chromosomes PubMed: Sugie 2005 - - Germline - 0/200 - - - Johan den Dunnen
?/. 1 2 c.134T>A r.(?) p.(Ile45Asn) - VUS g.8787231T>A g.8745545T>A - - CAV3_000096 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/., +?/. 57 2 c.136G>A r.(?) p.(Ala46Thr) - likely pathogenic, pathogenic, pathogenic (dominant) g.8787233G>A g.8745547G>A 133G>A (A45T), g.11748G>A - CAV3_000005 combination of variants not reported, control chromosomes, de novo, in patient, no second variant, 1 more item PubMed: Aboumousa 2008, PubMed: Betz 2001, OMIM:var0005, PubMed: Fulizio, OMIM:var0005, 8 more items - - De novo, Germline, Germline/De novo (untested) - 0/200, 1/1001 cases BclI+ - - Johan den Dunnen, Lab Müller-Reible, Madhuri Hegde, Ottie O'Brien, Ibrahim Sahin
+?/. 1 2 c.136G>T r.(?) p.(Ala46Ser) - likely pathogenic g.8787233G>T g.8745547G>T - - CAV3_000065 - - - - Germline - - - - - Wolfram Kress
?/. 1 2 c.137C>A r.(?) p.(Ala46Glu) - VUS g.8787234C>A g.8745548C>A - - CAV3_000049 - - - - Germline - - - - - Ieke Ginjaar
+/. 9 2 c.137C>T r.(?) p.(Ala46Val) - pathogenic g.8787234C>T g.8745548C>T 134C>T (A45V) - CAV3_000006 not in 400 control chromosomes PubMed: Betz 2001, OMIM:var0006, PubMed: Catteruccia 2009 - - Germline - - - - - Johan den Dunnen
+/. 1 2 c.139G>A r.(?) p.(Glu47Lys) - pathogenic g.8787236G>A g.8745550G>A - - CAV3_000041 - PubMed: Madrid 2005, OMIM:var0015 - - Germline - - - - - Johan den Dunnen
+/. 3 2 c.140A>C r.(?) p.(Glu47Ala) - pathogenic g.8787237A>C g.8745551A>C - - CAV3_000060 control chromosomes PubMed: Lorenzoni 2007 - - Germline - 0/100 - - - Johan den Dunnen
+/. 2 2 c.141G>T r.(?) p.(Glu47Asp) - pathogenic g.8787238G>T g.8745552G>T - - CAV3_000061 - PubMed: Aboumousa 2008 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.144T>C r.(?) p.(Pro48=) - benign g.8787241T>C g.8745555T>C CAV3(NM_033337.2):c.144T>C (p.P48=) - CAV3_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 5 2 c.157A>G r.(?) p.(Ser53Gly) - pathogenic g.8787254A>G g.8745568A>G - - CAV3_000044 control chromosomes PubMed: Dotti 2006 - - Germline - 0/100, 0/200 - - - Johan den Dunnen
?/. 1 1 c.158G>A r.(?) p.(Ser53Asn) - VUS g.8787255G>A g.8745569G>A - - CAV3_000054 - - - - Germline - - - - - Tom Winder
-/., -?/. 3 - c.165C>T r.(?) p.(Asp55=) - benign, likely benign g.8787262C>T g.8745576C>T CAV3(NM_033337.2):c.165C>T (p.D55=) - CAV3_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_AMC
+/., +?/., -/., -?/., ?/. 18 2 c.166G>A r.(?), r.166g>a p.(Gly56Ser), p.Gly56Ser - benign, likely benign, likely pathogenic, pathogenic, VUS g.8787263G>A g.8745577G>A CAV3(NM_001234.3):c.166G>A (p.(Gly56Ser)), CAV3(NM_033337.2):c.166G>A (p.G56S), G56S - CAV3_000003 5 heterozygous, no homozygous; Clinindb (India), control chromosomes, from website {DBsub-Emory}, 2 more items contact curator, Politano et al., Neuromuscul.Disord. 12: 733, PubMed: Arnestad 2007, 5 more items - rs72546667 CLASSIFICATION record, Germline, Unknown - 0.003 controls, 0.25, 0/250, 2/62, 4/100, 5/2794 individuals - - - Johan den Dunnen, Madhuri Hegde, Tom Winder, VKGL-NL_Leiden, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC, Mohammed Faruq
-/. 2 2 c.168C>A r.(?) p.(=), p.(Gly56=) - benign g.8787265C>A g.8745579C>A CAV3(NM_033337.2):c.168C>A (p.G56=) - CAV3_000017 VKGL data sharing initiative Nederland PubMed: Hayashi - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
-?/. 2 - c.168C>T r.(?) p.(Gly56=) - likely benign g.8787265C>T g.8745579C>T CAV3(NM_033337.2):c.168C>T (p.G56=) - CAV3_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/., +?/. 5 2 c.169G>A r.(?) p.(Val57Met) - likely pathogenic, pathogenic, pathogenic (dominant) g.8787266G>A g.8745580G>A - - CAV3_000015 1 heterozygous, no homozygous; Clinindb (India), control chromosomes PubMed: Alias, PubMed: Magri 2015, PubMed: Narang 2020, Journal: Narang 2020 - rs116840795 Germline yes 0/200, 1/2793 individuals NspI+ - - Johan den Dunnen, Tom Winder, Mohammed Faruq
+/. 1 2 c.170T>G r.(?) p.(Val57Gly) - pathogenic g.8787267T>G g.8745581T>G - - CAV3_000029 - - - - Germline - - - - - Lab Müller-Reible
-/. 6 2 c.171G>A r.(?) p.(=), p.(Val57=) - benign g.8787268G>A g.8745582G>A CAV3(NM_033337.2):c.171G>A (p.V57=) - CAV3_000022 from website {DBsub-Emory}, VKGL data sharing initiative Nederland PubMed: de Paula - rs61147808 CLASSIFICATION record, Germline, Unknown - 1/100, 1/61 - - - Johan den Dunnen, Madhuri Hegde, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
+/. 2 2 c.172T>C r.(?) p.(Trp58Arg) - pathogenic g.8787269T>C g.8745583T>C - - CAV3_000046 control chromosomes - - - Germline - 0/126 - - - Nicolas Levy
+/. 1 2 c.183C>A r.(?) p.(Ser61Arg) - pathogenic g.8787280C>A g.8745594C>A - - CAV3_000039 - PubMed: Fulizio - - Germline - - - - - Johan den Dunnen
+/. 1 2 c.189_197del r.189_197del p.Thr64_Thr66del - pathogenic g.8787286_8787294del g.8745600_8745608del 186_194del (T63_T65del) - CAV3_000002 not in 100 control chromosomes PubMed: Minetti 1998, PubMed: Smythe, OMIM:var0002 - - Germline - - - - - Johan den Dunnen
+/. 1 2 c.190A>C r.(?) p.(Thr64Pro) - pathogenic g.8787287A>C g.8745601A>C - - CAV3_000023 - PubMed: Matsuda - - Germline - - - - - Johan den Dunnen
+/. 2 2 c.191C>G r.(?) p.(Thr64Ser) - pathogenic g.8787288C>G g.8745602C>G - - CAV3_000019 control chromosomes PubMed: Hayashi, OMIM:var0013 - - Germline - 0/500 - - - Johan den Dunnen
-?/. 3 - c.201C>A r.(?) p.(Val67=) - likely benign g.8787298C>A g.8745612C>A CAV3(NM_033337.2):c.201C>A (p.V67=) - CAV3_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-/., -?/. 6 2 c.204C>A r.(?) p.(=), p.(Ser68=) - benign, likely benign g.8787301C>A g.8745615C>A CAV3(NM_001234.3):c.204C>A (p.(=)), CAV3(NM_033337.2):c.204C>A (p.S68=) - CAV3_000018 VKGL data sharing initiative Nederland PubMed: Hayashi - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Leiden, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
+/. 1 2 c.212G>A r.(?) p.(Trp71*) - pathogenic g.8787309G>A g.8745623G>A - - CAV3_000052 not in 100 control chromosomes PubMed: Ueyama 2007 - - Germline - - SpeI+ - - Johan den Dunnen
+/., +?/., -/., -?/., ?/. 17 2 c.216C>G r.(?), r.216c>g p.(Cys72Trp), p.Cys72Trp - benign, likely benign, NA, pathogenic, VUS g.8787313C>G g.8745627C>G C71W, CAV3(NM_033337.2):c.216C>G (p.C72W), NM_001234:c.C216G - CAV3_000004 9 heterozygous, no homozygous; Clinindb (India), control chromosomes, 2 more items PubMed: Arnestad 2007, PubMed: Cai 20029, PubMed: Cecconi 2016, Journal: Cecconi 2016, 6 more items - rs116840776 CLASSIFICATION record, Germline, Germline/De novo (untested), In vitro (cloned) - 0/250, 1/100, 1/223 cases HCM, 9/2794 individuals, reads 0.31 KpnI+ - - Johan den Dunnen, Ieke Ginjaar, Domenico Coviello, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, Mohammed Faruq, Mathieu Cerino
+/. 1 2 c.218A>G r.(?) p.(Tyr73Cys) - pathogenic g.8787315A>G g.8745629A>G - - CAV3_000064 - PubMed: Aboumousa 2008 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.220C>T r.(?) p.(Arg74Cys) - VUS g.8787317C>T g.8745631C>T CAV3(NM_033337.2):c.220C>T (p.R74C) - CAV3_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 2 2 c.233C>A r.(?) p.(Thr78Lys), p.Thr78Lys - NA, pathogenic g.8787330C>A g.8745644C>A - - CAV3_000074 expression cloning COS7-cells, CAV3 expression 0.87 reduced, abnormal localisation (dominant effect) PubMed: Traverso 2008 - - Germline, In vitro (cloned) - - - - - Johan den Dunnen
+/., -/., -?/., ?/. 26 2 c.233C>T r.(?) p.(Thr78Met), p.Thr78Met ACMG benign, likely benign, NA, pathogenic, pathogenic (!), VUS g.8787330C>T g.8745644C>T CAV3(NM_033337.2):c.233C>T (p.T78M) - CAV3_000030 carries 8-unit D4Z4 allele, control chromosomes, not in 1000 control chromosomes, 7 more items P.Hedley ASHG 2010 A671, PubMed: Arnestad 2007, PubMed: Cecconi 2016, Journal: Cecconi 2016, 6 more items - rs72546668 CLASSIFICATION record, Germline, In vitro (cloned) - 0/100, 1/496, reads 0.49 - - - Johan den Dunnen, Andrea Nuccitelli, Madhuri Hegde, Andreas Laner, Domenico Coviello, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC, Helen Latsoudis
+/. 1 2 c.236T>G r.(?) p.(Leu79Arg) - pathogenic g.8787333T>G g.8745647T>G - - CAV3_000059 not in 400 control chromosomes PubMed: Cronck 2007, OMIM:var0021 - - Germline - - - - - Johan den Dunnen
-?/., ?/. 4 2 c.244G>A r.(?) p.(Val82Ile) - likely benign, VUS g.8787341G>A g.8745655G>A CAV3(NM_033337.2):c.244G>A (p.V82I) - CAV3_000097 VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_AMC
?/. 1 2 c.244G>T r.(?) p.(Val82Phe) - VUS g.8787341G>T g.8745655G>T - - CAV3_000128 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.250C>G r.(?) p.(Leu84Val) - likely benign g.8787347C>G g.8745661C>G CAV3(NM_033337.2):c.250C>G (p.L84V) - CAV3_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 2 c.253G>A r.(?) p.(Ala85Thr) - pathogenic g.8787350G>A g.8745664G>A - - CAV3_000055 de novo, in patient; not in 1000 control chromosomes PubMed: Vatta 2006, OMIM:var0019 - - De novo - - - - - Johan den Dunnen
?/. 1 - c.259C>T r.(?) p.(Leu87Phe) - VUS g.8787356C>T g.8745670C>T CAV3(NM_033337.2):c.259C>T (p.L87F) - CAV3_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 2 c.260T>C r.(?) p.(Leu87Pro) - pathogenic g.8787357T>C g.8745671T>C 215T>C (L86P) - CAV3_000011 not in 120 control chromosomes PubMed: Kubisch 2003, OMIM:var0009 - rs28936685 Germline - - - - - Johan den Dunnen
+/., -/., -?/. 5 2 c.276C>T r.(?) p.(=), p.(Phe92=) - benign, likely benign, pathogenic g.8787373C>T g.8745687C>T CAV3(NM_033337.2):c.276C>T (p.F92=) - CAV3_000085 VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
+/., +?/., ?/. 16 2 c.277G>A r.(?) p.(Ala93Thr) - likely pathogenic, pathogenic, pathogenic (dominant), VUS g.8787374G>A g.8745688G>A 232G>A (A92T), A92T, CAV3(NM_033337.2):c.277G>A (p.A93T) - CAV3_000012 combination of variants not reported, not in 120 control chromosomes, 1 more item PubMed: Jacobi 2010, PubMed: Kubisch 2003, PubMed: Jacobi 2010, OMIM:var0010, PubMed: Magri 2015, 2 more items - rs28936686 CLASSIFICATION record, Germline - 2/1001 cases BspMI+ - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.277G>T r.(?) p.(Ala93Ser) - VUS g.8787374G>T g.8745688G>T CAV3(NM_033337.2):c.277G>T (p.A93S) - CAV3_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 2 c.289T>Cˆ291C>R r.(?) p.(Phe97Leu) - benign g.8787386T>Cˆ8787386C>R - F97L - CAV3_000079 1 more item PubMed: Arnestad 2007 - - Germline - 0.005 controls - - - Johan den Dunnen
+/. 1 2 c.290T>G r.(?) p.(Phe97Cys) - pathogenic g.8787387T>G g.8745701T>G 290T>C - CAV3_000056 de novo, in patient; not in 1000 control chromosomes; DNA/protein descriptions in paper do not match PubMed: Vatta 2006, OMIM:var0017 - - De novo - - - - - Johan den Dunnen
+/., ?/. 13 2 c.290_292del r.(?) p.(Phe97del) - pathogenic, pathogenic (dominant), VUS g.8787387_8787389del g.8745701_8745703del 289_291delTTC, 290_292delTCT - CAV3_000014 1 variant identified in 50 LGMD patients screened ESHG2010, Spadafora P12.118, PubMed: Cagliani, OMIM:var0011, PubMed: Magri 2015, 2 more items - - Germline - 1/50 - - - Johan den Dunnen, Madhuri Hegde
+/. 2 2 c.298A>T r.(?) p.(Ile100Phe) - pathogenic g.8787395A>T g.8745709A>T - - CAV3_000042 control chromosomes - - - Germline - 0/126 - - - Nicolas Levy
+/. 3 2 c.301T>C r.(?) p.(Trp101Arg) - pathogenic g.8787398T>C g.8745712T>C - - CAV3_000045 de novo, in patient Herrmann WMS2004, PubMed: Aboumousa 2008, PubMed: Nallamilli 2018 - - De novo, Germline - - - - - Madhuri Hegde, Ottie O'Brien
?/. 1 - c.306G>A r.(?) p.(Ala102=) - VUS g.8787403G>A g.8745717G>A CAV3(NM_033337.2):c.306G>A (p.A102=) - CAV3_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.307G>T r.(?) p.(Val103Leu) - likely benign g.8787404G>T g.8745718G>T CAV3(NM_033337.2):c.307G>T (p.V103L) - CAV3_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 4 2 c.307_312del r.(?) p.(Val103_Val104del) - VUS g.8787404_8787409del g.8745718_8745723del - - CAV3_000053 control chromosomes PubMed: Bae 2007 - - Germline - 0/100 - - - Johan den Dunnen
+/. 7 2 c.314C>T r.(?), r.314c>u p.(Pro105Leu), p.Pro105Leu - NA, pathogenic g.8787411C>T g.8745725C>T 311C>T (P104L), P104L - CAV3_000001 expression cloning C2C12 cells, CAV3-GFP retention in Golgi influencing MG53/DYSF localisation, 4 more items PubMed: Betz 2001, OMIM:var0001, PubMed: Cai 20029, PubMed: Minetti 1998, OMIM:var0001, 1 more item - - Germline, In vitro (cloned) - - NlaIII- - - Johan den Dunnen
-/., -?/. 5 - c.336C>T r.(?) p.(Ile112=) - benign, likely benign g.8787433C>T g.8745747C>T CAV3(NM_001234.3):c.336C>T (p.(=)), CAV3(NM_033337.2):c.336C>T (p.I112=) - CAV3_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
+?/. 1 2 c.366dup r.(?) p.(Leu123Thrfs*77) - likely pathogenic g.8787463dup g.8745777dup 366dupA - CAV3_000098 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-/., ?/. 5 2 c.377G>A r.(?) p.(Arg126His) - benign, VUS g.8787474G>A g.8745788G>A CAV3(NM_033337.2):c.377G>A (p.R126H), R126H - CAV3_000021 control chromosomes, VKGL data sharing initiative Nederland PubMed: de Paula 2001, PubMed: de Paula 2003 - - CLASSIFICATION record, Germline no 1/61 cases - - - Johan den Dunnen, VKGL-NL_Groningen
?/. 1 - c.380C>A r.(?) p.(Thr127Asn) - VUS g.8787477C>A g.8745791C>A - - CAV3_000123 - PubMed: Punetha 2016 - - Germline/De novo (untested) - 1/94 cases - - - Johan den Dunnen
-/. 1 - c.384C>T r.(?) p.(Phe128=) - benign g.8787481C>T g.8745795C>T CAV3(NM_033337.2):c.384C>T (p.F128=) - CAV3_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 2 c.400G>A r.(?) p.(Ala134Thr) - VUS g.8787497G>A g.8745811G>A - - CAV3_000099 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 1 - c.402G>A r.(?) p.(Ala134=) - likely benign g.8787499G>A g.8745813G>A - - CAV3_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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