Unique variants in the COL6A2 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_001849.3 transcript reference sequence.

455 entries on 5 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 1i c.-27(-3053 _-2994)_-27(-900_-856)del r.0 p.0 - pathogenic g.? - g.(46352739_46352798)_(46354892_46354936)del - COL6A2_000147 1 more item PubMed: Bovolenta 2010 - - Germline yes - - - - Alessandra Ferlini
+/., +?/., ?/. 3 16, 3 c.? r.(?) p.(?), p.G2065S, p.V117A - likely pathogenic, pathogenic, VUS g.? - 350T>C (V117A), 6193G>A (G2065S) - COL6A2_000000, COL6A2_000008 no second variant, protein domain TH PubMed: Camacho 2001, OMIM:var0003, PubMed: Nallamilli 2018 - - De novo, Germline - - DdeI - - Johan den Dunnen, Madhuri Hegde
+/. 1 1_28 c.(?_-82)_(*297_?)del r.0 p.0 - pathogenic g.? - - - COL6A2_000000 69 Kb deletion L Medne ASHG 2010 A1669 - - Germline - - - - - Johan den Dunnen
?/. 1 5' UTR c.-6G>A r.spl p.(=) - VUS g.47531385G>A g.46111471G>A - - COL6A2_000273 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 _1_18i_ c.(?_-1)_(1521+1_?)del r.0 p.0 - pathogenic g.(47500000_47531390)_(47541533_47552467)del - - - COL6A2_000144 69 kb deletion PubMed: Foley 2011 - - Germline yes - - - - Johan den Dunnen
+/. 3 _1_28_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(46400000_46480000)_(48085000_qter)del, g.(46950000_47250000)_(48085000_qter)del, 1 more item - - - COL6A1_000161, COL6A1_000162, COL6A2_000145 1.09 Mb deletion PCBP3_PRMT2 (Incl. COL6A1, COL6A2), 47 kb deletion, 1 more item PubMed: Foley 2011 - - Germline ?, yes - - - - Johan den Dunnen
+?/. 1 4i_5i c.(735+1_802-1)? r.736_801del p.(del) - likely pathogenic g.(47532739_47535785)? g.(46112825_46115871)? 736_801del66 - COL6A2_000185 - PubMed: O'Grady 2016 - - De novo - - - - - Shireen Lamandé
+/. 1 - c.13_25del r.(?) p.(Thr5Serfs*62) - pathogenic g.47531403_47531415del g.46111489_46111501del c.11_23delGCACCTGCTCCGT - COL6A2_000452 - PubMed: Yu 2017 - - Germline - - - - - Johan den Dunnen
?/. 3 2 c.22G>A r.(?) p.(Val8Met) - VUS g.47531412G>A g.46111498G>A - - COL6A2_000274 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/. 1 2 c.38del r.(?) p.(Gly13GlufsTer58) - likely pathogenic g.47531428del g.46111514del - - COL6A2_000461 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
?/. 1 2 c.94G>A r.(?) p.(Glu32Lys) - VUS g.47531484G>A g.46111570G>A - - COL6A2_000275 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 2i c.115+6del r.(?) p.(?) - VUS g.47531511del g.46111597del 115+6delA - COL6A2_000276 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 2i c.115+10G>T r.spl p.(=) - VUS g.47531515G>T g.46111601G>T - - COL6A2_000277 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/., ?/. 2 2i c.116-34G>A r.(=), r.(?) p.(=) - likely benign, VUS g.47531859G>A g.46111945G>A - - COL6A2_000069 24 heterozygous, no homozygous; Clinindb (India), from website {DBsub-Emory} PubMed: Narang 2020, Journal: Narang 2020 - rs117154313 Germline - 24/2793 individuals - - - Madhuri Hegde, Mohammed Faruq
?/. 1 3 c.148G>A r.(?) p.(Val50Met) - VUS g.47531925G>A g.46112011G>A - - COL6A2_000131 - PubMed: Butterfield - - Germline ? - - - - Russell Butterfield
?/. 1 3 c.167G>A r.(?) p.(Ser56Asn) - VUS g.47531944G>A g.46112030G>A - - COL6A2_000278 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 3 c.169G>A r.(?) p.(Val57Ile) - VUS g.47531946G>A g.46112032G>A - - COL6A2_000279 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 2 3 c.176T>C r.(?) p.(Met59Thr) - VUS g.47531953T>C g.46112039T>C - - COL6A2_000280 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 3 c.181T>C r.(?) p.(Ser61Pro) - VUS g.47531958T>C g.46112044T>C - - COL6A2_000203 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 3 c.188C>T r.(?) p.(Thr63Met) - VUS g.47531965C>T g.46112051C>T - - COL6A2_000281 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 2 - c.202T>C r.(?) p.(Phe68Leu) - VUS g.47531979T>C g.46112065T>C COL6A2(NM_058175.2):c.202T>C (p.F68L) - COL6A2_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_AMC
?/. 1 3 c.224C>T r.(?) p.(Pro75Leu) - VUS g.47532001C>T g.46112087C>T - - COL6A2_000282 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 3 c.229T>C r.(?) p.(Phe77Leu) - VUS g.47532006T>C g.46112092T>C - - COL6A2_000283 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 3 c.284G>A r.(?) p.(Arg95His) - VUS g.47532061G>A g.46112147G>A - - COL6A2_000284 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 3 c.310C>T r.(?) p.(Gln104Ter) - pathogenic g.47532087C>T g.46112173C>T - - COL6A2_000462 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
+/., -/., -?/., ?/. 7 3 c.316G>A r.(?) p.(Glu106Lys), p.Glu106Lys - benign, likely benign, pathogenic, VUS g.47532093G>A g.46112179G>A COL6A2(NM_001849.3):c.316G>A (p.(Glu106Lys)), COL6A2(NM_058175.2):c.316G>A (p.E106K) - COL6A2_000070 from website {DBsub-Emory}, VKGL data sharing initiative Nederland PubMed: O'Grady 2016 - - CLASSIFICATION record, Germline yes - - - - Madhuri Hegde, Alessandra Ferlini, Shireen Lamandé, VKGL-NL_Leiden, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 3 c.332C>T r.(?) p.(Pro111Leu) - VUS g.47532109C>T g.46112195C>T - - COL6A2_000285 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 3 c.348dup r.(?) p.(Ser117Leufs*159) - pathogenic g.47532125dup g.46112211dup - - COL6A2_000164 - - - - Germline ? - - - - Alessandra Ferlini
?/. 1 3 c.386G>A r.(?) p.(Arg129His) - VUS g.47532163G>A g.46112249G>A - - COL6A2_000286 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/. 2 - c.388C>T r.(?) p.(Arg130Cys) - likely pathogenic g.47532165C>T g.46112251C>T - - COL6A2_000202 combination of variants not reported, 1 more item MYO-SEQ project, UK, PubMed: Topf 2020 - - Germline ? 1/1001 cases - - - Johan den Dunnen, Alison Blain
?/. 1 3 c.410C>T r.(?) p.(Ala137Val) - VUS g.47532187C>T g.46112273C>T - - COL6A2_000287 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 2 3 c.436C>T r.(?) p.(Arg146Trp) - VUS g.47532213C>T g.46112299C>T - - COL6A2_000288 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 3 c.446G>A r.(?) p.(Arg149His) - VUS g.47532223G>A g.46112309G>A - - COL6A2_000289 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 2 3 c.472G>A r.(?) p.(Val158Met) - VUS g.47532249G>A g.46112335G>A COL6A2(NM_058175.2):c.472G>A (p.V158M) - COL6A2_000290 no second variant, VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_Rotterdam
-/. 1 - c.483C>T r.(?) p.(Thr161=) - benign g.47532260C>T g.46112346C>T - - COL6A2_000240 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 3 c.493G>A r.(?) p.(Val165Ile) - VUS g.47532270G>A g.46112356G>A - - COL6A2_000291 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 - c.499G>A r.(?) p.(Gly167Ser) - VUS g.47532276G>A g.46112362G>A COL6A2(NM_058175.2):c.499G>A (p.G167S) - COL6A2_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.503G>T r.(?) p.(Ser168Ile) - VUS g.47532280G>T g.46112366G>T - - COL6A2_000449 - PubMed: Punetha 2016 - - Germline/De novo (untested) - 1/94 cases - - - Johan den Dunnen
-?/. 1 3 c.507C>T r.(?) p.(=) - likely benign g.47532284C>T g.46112370C>T - - COL6A2_000138 - PubMed: Butterfield - - Germline ? - - - - Russell Butterfield
-?/., ?/. 3 3 c.510C>T r.(?) p.(=), p.(Cys170=) - likely benign, VUS g.47532287C>T g.46112373C>T COL6A2(NM_058175.2):c.510C>T (p.C170=) - COL6A2_000071 from website {DBsub-Emory}, VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/., -?/., ?/. 17 3 c.511G>A r.(?) p.(Gly171Arg) - likely benign, pathogenic, VUS g.47532288G>A g.46112374G>A COL6A2(NM_058175.2):c.511G>A (p.G171R) - COL6A2_000159 no second variant, VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline yes - - - - Madhuri Hegde, Alessandra Ferlini, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 3 c.532G>A r.(?) p.(Glu178Lys) - likely benign g.47532309G>A g.46112395G>A - - COL6A2_000128 - - - - Germline - - - - - Tom Winder
?/. 1 - c.542G>A r.(?) p.(Arg181His) - VUS g.47532319G>A - COL6A2(NM_058175.2):c.542G>A (p.R181H) - COL6A2_000458 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 3 c.545A>G r.(?) p.(Glu182Gly) - VUS g.47532322A>G g.46112408A>G - - COL6A2_000292 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 3 3 c.568G>A r.(?) p.(Val190Met) - VUS g.47532345G>A g.46112431G>A - - COL6A2_000293 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 3 c.581A>G r.(?) p.(Gln194Arg) - VUS g.47532358A>G g.46112444A>G - - COL6A2_000294 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 3 c.596A>G r.(?) p.(Gln199Arg) - VUS g.47532373A>G g.46112459A>G - - COL6A2_000295 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 3 c.605G>A r.(?) p.(Arg202Gln) - VUS g.47532382G>A g.46112468G>A - - COL6A2_000296 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 3 c.627C>T r.(?) p.(=) - VUS g.47532404C>T g.46112490C>T - - COL6A2_000297 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 3 3 c.628G>A r.(?) p.(Glu210Lys) - VUS g.47532405G>A g.46112491G>A g.14395G>A - COL6A2_000298 no second variant PubMed: Nallamilli 2018, PubMed: Saat 2021 - - Germline - - - - - Madhuri Hegde, Ibrahim Sahin
?/. 1 3 c.637C>T r.(?) p.(Arg213Cys) - VUS g.47532414C>T g.46112500C>T - - COL6A2_000299 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 3 c.638G>A r.(?) p.(Arg213His) - VUS g.47532415G>A g.46112501G>A - - COL6A2_000300 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/. 1 3 c.641_645del r.(?) p.(Asn214Ilefs*60) - likely pathogenic g.47532418_47532422del g.46112504_46112508del - - COL6A2_000052 - - - - Germline - - - - - Tom Winder
-?/., ?/. 2 3 c.643G>A r.(?) p.(Asp215Asn) - likely benign, VUS g.47532420G>A g.46112506G>A COL6A2(NM_058175.2):c.643G>A (p.D215N) - COL6A2_000301 VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_Rotterdam
-/. 5 3 c.663C>T r.(?), r.663c>u p.(=), p.(Pro221=), p.= - benign g.47532440C>T g.46112526C>T COL6A2(NM_058175.2):c.663C>T (p.P221=), COL6A2(NM_058175.3):c.663C>T (p.P221=), P221P - COL6A2_000072 from website {DBsub-Emory}, VKGL data sharing initiative Nederland PubMed: Gualandi 2012 - - CLASSIFICATION record, Germline ? - - - - Madhuri Hegde, Alessandra Ferlini, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.664G>A r.(?) p.(Asp222Asn) - VUS g.47532441G>A - COL6A2(NM_058175.2):c.664G>A (p.D222N) - COL6A2_000455 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 17 3 c.679G>A r.(?), r.679a>g p.(Asp227Asn), p.Asp227Asn - benign, likely benign g.47532456G>A g.46112542G>A 679A>G, COL6A2(NM_001849.3):c.679G>A (p.(Asp227Asn)), COL6A2(NM_058175.2):c.679G>A (p.D227N) - COL6A2_000031 64 heterozygous, no homozygous; Clinindb (India), from website {DBsub-Emory}, N1, 1 more item PubMed: Baker 2007, PubMed: Narang 2020, Journal: Narang 2020 - rs35881321 CLASSIFICATION record, Germline - 64/2795 individuals - - - Johan den Dunnen, Madhuri Hegde, VKGL-NL_Leiden, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC, Mohammed Faruq
+/. 1 3 c.688_689dup r.(?) p.(Ile231Profs*9) - pathogenic g.47532465_47532466dup g.46112551_46112552dup - - COL6A2_000001 protein domain N1 PubMed: Lampe 2005 - - Germline - - - - - Johan den Dunnen
-/., -?/. 5 3i c.714+9C>T r.(=), r.(?) p.(=) - benign, likely benign g.47532500C>T g.46112586C>T COL6A2(NM_058175.2):c.714+9C>T - COL6A2_000073 175 heterozygous; Clinindb (India), 2 homozygous; Clinindb (India), from website {DBsub-Emory}, 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs78822624 CLASSIFICATION record, Germline - 175/2794 individuals, 2/2794 individuals - - - Madhuri Hegde, VKGL-NL_Nijmegen, VKGL-NL_AMC, Mohammed Faruq
-/. 1 3i c.714+29G>A r.(?) p.(=) - benign g.47532520G>A g.46112606G>A - - COL6A2_000074 from website {DBsub-Emory} - - - Germline - - - - - Madhuri Hegde
-/. 1 3i c.714+45C>T r.(?) p.(=) - benign g.47532536C>T g.46112622C>T - - COL6A2_000075 from website {DBsub-Emory} - - - Germline - - - - - Madhuri Hegde
?/. 2 4 c.730G>A r.(?) p.(Gly244Arg) - VUS g.47532733G>A g.46112819G>A - - COL6A2_000302 1 heterozygous, no homozygous; Clinindb (India) PubMed: Nallamilli 2018, PubMed: Narang 2020, Journal: Narang 2020 - rs199806576 Germline - 1/2795 individuals - - - Madhuri Hegde, Mohammed Faruq
+/., ?/. 2 4i_5 c.736-7_739del r.spl p.? - pathogenic, VUS g.47533915_47533925del g.46114001_46114011del 736-7_739del11 - COL6A2_000303 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 - c.759A>G r.(?) p.(Glu253=) - VUS g.47533945A>G g.46114031A>G COL6A2(NM_058175.2):c.759A>G (p.E253=) - COL6A2_000208 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 5 c.777C>G r.777c>g p.= - benign g.47533963C>G g.46114049C>G G777C - COL6A2_000047 - PubMed: Giusti 2005 - - Germline - - - - - Anne Lampe
+/. 1 5 c.785G>A r.(?) p.(Gly262Asp) - pathogenic g.47533971G>A g.46114057G>A - - COL6A2_000184 - PubMed: O'Grady 2016 - - De novo - - - - - Shireen Lamandé
?/. 1 5 c.790C>T r.(?) p.(Arg264Cys) - VUS g.47533976C>T g.46114062C>T - - COL6A2_000304 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 11 5 c.791G>A r.(?) p.(Arg264His) - VUS g.47533977G>A g.46114063G>A COL6A2(NM_058175.2):c.791G>A (p.R264H) - COL6A2_000305 no second variant, VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_Rotterdam, VKGL-NL_VUmc
?/. 1 5 c.793G>A r.(?) p.(Gly265Arg) - VUS g.47533979G>A g.46114065G>A - - COL6A2_000306 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 5_5i c.796_801+6del r.spl p.? - pathogenic g.47533982_47533993del g.46114068_46114079del - - COL6A2_000307 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/. 2 5i c.801+1del r.spl p.? - likely pathogenic g.47533988del g.46114074del 47533986AG>A - COL6A2_000192 combination of variants not reported, 1 more item MYO-SEQ project, UK, PubMed: Topf 2020 - - Germline ? 1/1001 cases - - - Johan den Dunnen, Alison Blain
+/. 1 5i c.801+2T>C r.spl? p.? - pathogenic g.47533989T>C g.46114075T>C - - COL6A2_000181 - PubMed: O'Grady 2016 - - De novo - - - - - Shireen Lamandé
+/. 2 5i c.801+3A>C r.736_801del, r.spl? p.?, p.Cys246_Lys267del - pathogenic g.47533990A>C g.46114076A>C - - COL6A2_000155 RNA expression 2/7 PubMed: Martoni 2009 - - De novo, Germline ?, yes - - - - Alessandra Ferlini
?/. 1 5i c.801+45C>A r.(?) p.(=) - VUS g.47534032C>A g.46114118C>A - - COL6A2_000076 from website {DBsub-Emory} - - - Germline - - - - - Madhuri Hegde
+/. 2 5i c.801+631_882del r.(?) p.(Gly268_Ile294del), p.[=, Gly268_Ile294del] - pathogenic g.47534618_47535949del g.46114704_46116035del HGVS c.[=/801+631_882del] - COL6A2_000000 1332 bp deletion; protein domain TH PubMed: Baker 2005 - - Germline - - - - - Johan den Dunnen
+/. 1 5i c.802-2A>G r.spl p.? - pathogenic g.47535784A>G g.46115870A>G - - COL6A2_000308 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/. 1 5i c.802-1G>C r.spl? p.? - likely pathogenic g.47535785G>C g.46115871G>C - - COL6A2_000067 - - - - Germline - - - - - Tom Winder
+/., +?/. 6 6 c.802G>A r.(?) p.(Gly268Ser) - likely pathogenic, pathogenic g.47535786G>A g.46115872G>A - - COL6A2_000055 VKGL data sharing initiative Nederland PubMed: Butterfield - - CLASSIFICATION record, De novo, Germline ?, yes - - - - Tom Winder, Alessandra Ferlini, Russell Butterfield, VKGL-NL_Nijmegen
+/., +?/. 4 6 c.802G>T r.(?), r.(spl?) p.(Gly268Cys) - likely pathogenic, pathogenic g.47535786G>T g.46115872G>T - - COL6A2_000050 combination of variants not reported, 1 more item MYO-SEQ project, UK, PubMed: Butterfield, PubMed: Topf 2020 - - Germline ? 1/1001 cases - - - Johan den Dunnen, Tom Winder, Russell Butterfield, Alison Blain
+?/. 1 - c.803G>A r.(?) p.(Gly268Asp) - likely pathogenic g.47535787G>A g.46115873G>A COL6A2(NM_058175.2):c.803G>A (p.G268D) - COL6A2_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 2 6 c.811G>A r.(?) p.(Gly271Ser) - pathogenic g.47535795G>A g.46115881G>A 898G>A - COL6A2_000003 0/100 control chromosomes; protein domain TH PubMed: Jobsis 1996 - - Germline - - StyI - - Johan den Dunnen
+/. 3 6 c.812G>A r.(?) p.(Gly271Asp) - pathogenic g.47535796G>A g.46115882G>A COL6A2(NM_058175.2):c.812G>A (p.G271D) - COL6A2_000132 VKGL data sharing initiative Nederland PubMed: Butterfield - - CLASSIFICATION record, De novo, Germline ?, yes - - - - Russell Butterfield, VKGL-NL_AMC
+?/. 1 - c.821G>A r.(?) p.(Gly274Asp) - likely pathogenic g.47535805G>A g.46115891G>A - - COL6A2_000451 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 6 c.830del r.(?) p.(Gly277Glufs*131) - pathogenic g.47535814del g.46115900del 830delG - COL6A2_000309 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/. 1 - c.830G>A r.(?) p.(Gly277Glu) ACMG likely pathogenic g.47535814G>A g.46115900G>A - - COL6A2_000269 1 more item PubMed: Fichna 2018 - - Germline - - - - - Johan den Dunnen
-/. 1 6 c.832G>A r.(?) p.(Glu278Lys) - benign g.47535816G>A g.46115902G>A - - COL6A2_000077 from website {DBsub-Emory} - - - Germline - - - - - Madhuri Hegde
+/. 1 6 c.838G>A r.(?) p.(Gly280Ser) - pathogenic g.47535822G>A g.46115908G>A - - COL6A2_000129 - - - - Germline - - - - - Tom Winder
+?/. 1 6 c.838G>C r.(?) p.(Gly280Arg) - likely pathogenic g.47535822G>C g.46115908G>C - - COL6A2_000310 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 6 c.839G>A r.(?) p.(Gly280Asp) - pathogenic g.47535823G>A g.46115909G>A - - COL6A2_000133 - PubMed: Butterfield - - Germline ? - - - - Russell Butterfield
+/., ?/. 5 6 c.847G>A r.(?) p.(Gly283Arg) - pathogenic, VUS g.47535831G>A g.46115917G>A - - COL6A2_000004 no second variant, protein domain TH PubMed: Butterfield, PubMed: Lampe 2005, PubMed: Nallamilli 2018 - - De novo, Germline ?, yes 1/78 - - - Johan den Dunnen, Madhuri Hegde, Alessandra Ferlini, Russell Butterfield
+/., +?/. 2 6 c.848G>A r.(?) p.(Gly283Glu) - likely pathogenic, pathogenic g.47535832G>A g.46115918G>A - - COL6A2_000140 - PubMed: Butterfield, PubMed: Nallamilli 2018 - - Germline ? - - - - Madhuri Hegde, Russell Butterfield
+/. 1 - c.855+2T>G r.spl? p.? - pathogenic g.47535841T>G g.46115927T>G COL6A2(NM_058175.2):c.855+2T>G - COL6A2_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 7 c.856-3C>G r.spl? p.? - likely pathogenic g.47535920C>G g.46116006C>G - - COL6A2_000043 absent type VI collagen - - - Germline - - - - - Tom Winder
+/. 1 6i c.856-2A>C r.spl p.? - pathogenic g.47535921A>C g.46116007A>C - - COL6A2_000311 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/. 1 - c.856-1G>C r.spl p.? - likely pathogenic (dominant) g.47535922G>C g.46116008G>C - - COL6A2_000448 - PubMed: Park 2017 - - Germline - 1/209 cases - - - Johan den Dunnen
+/. 1 7 c.865G>T r.(?) p.(Gly289Cys) - pathogenic g.47535932G>T g.46116018G>T - - COL6A2_000312 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/., ?/. 2 7 c.866G>A r.(?) p.(Gly289Asp) - likely pathogenic, VUS g.47535933G>A g.46116019G>A - - COL6A2_000243 VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_Nijmegen
?/. 1 - c.868A>T r.(?) p.(Ile290Phe) - VUS g.47535935A>T g.46116021A>T COL6A2(NM_058175.2):c.868A>T (p.I290F) - COL6A2_000433 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 7 c.875G>A r.(?) p.(Gly292Asp) - pathogenic g.47535942G>A g.46116028G>A COL6A2(NM_001849.3):c.875G>A (p.G292D) - COL6A2_000134 VKGL data sharing initiative Nederland PubMed: Butterfield - - CLASSIFICATION record, De novo yes - - - - Russell Butterfield, VKGL-NL_Utrecht
+/., +?/. 5 7 c.875G>T r.(?) p.(Gly292Val) - likely pathogenic, pathogenic g.47535942G>T g.46116028G>T COL6A2(NM_058175.2):c.875G>T (p.G292V) - COL6A2_000167 no second variant, VKGL data sharing initiative Nederland PubMed: Ganapathy 2019, PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline ? - - - - Johan den Dunnen, Madhuri Hegde, Alessandra Ferlini, VKGL-NL_AMC
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