All 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.

950 entries on 10 pages. Showing entries 1 - 100.
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Effect     

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     
+/. 1i c.-27(-3053 _-2994)_-27(-900_-856)del r.0 p.0 - pathogenic g.? - g.(46352739_46352798)_(46354892_46354936)del - COL6A2_000147 max. 2.1 Kb deletion; father carries c.2094G>A and c.2097C>T on 2nd allele of which RNA expression is >95% PubMed: Bovolenta 2010 - - Germline yes - - 0 - Alessandra Ferlini
+/. - c.? r.(?) p.(?) - pathogenic g.? - - - COL6A2_000008 protein domain TH PubMed: Camacho 2001, OMIM:var0003 - - De novo - - DdeI 0 - Johan den Dunnen
+?/. 16 c.? r.(?) p.G2065S - likely pathogenic g.? - 6193G>A (G2065S) - COL6A2_000000 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.? r.(?) p.V117A - VUS g.? - 350T>C (V117A) - COL6A2_000000 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 1_28 c.(?_-82)_(*297_?)del r.0 p.0 - pathogenic g.? - - - COL6A2_000000 69 Kb deletion L Medne ASHG 2010 A1669 - - Germline - - - 0 - Johan den Dunnen
?/. 5' UTR c.-6G>A r.spl p.(=) - VUS g.47531385G>A g.46111471G>A - - COL6A2_000273 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. _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 - - 0 - Johan den Dunnen
+/. _1_28_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(46400000_46480000)_(48085000_qter)del - - - COL6A1_000162 1.6 Mb deletion ADARB1_PRMT2 (incl. COL6A1, COL6A2) PubMed: Foley 2011 - - Germline ? - - 0 - Johan den Dunnen
+/. _1_28_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(46950000_47250000)_(48085000_qter)del - - - COL6A1_000161 1.09 Mb deletion PCBP3_PRMT2 (Incl. COL6A1, COL6A2) PubMed: Foley 2011 - - Germline ? - - 0 - Johan den Dunnen
+/. _1_28_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(47450000_47531390)_(47552467_47572000)del - - - COL6A2_000145 47 kb deletion - - - Germline yes - - 0 - Johan den Dunnen
+?/. 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 - - - 0 - Shireen Lamandé
+/. - c.13_25del r.(?) p.(Thr5Serfs*62) - pathogenic g.47531403_47531415del g.46111489_46111501del c.11_23delGCACCTGCTCCGT - COL6A2_000452 - PubMed: Yu 2017 - - Germline - - - 0 - Johan den Dunnen
?/. 2 c.22G>A r.(?) p.(Val8Met) - VUS g.47531412G>A g.46111498G>A - - COL6A2_000274 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 2 c.22G>A r.(?) p.(Val8Met) - VUS g.47531412G>A g.46111498G>A - - COL6A2_000274 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 2 c.22G>A r.(?) p.(Val8Met) - VUS g.47531412G>A g.46111498G>A - - COL6A2_000274 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+?/. 2 c.38del r.(?) p.(Gly13GlufsTer58) - likely pathogenic g.47531428del g.46111514del - - COL6A2_000461 - PubMed: Ganapathy 2019 - - Germline - - - 0 - Johan den Dunnen
?/. 2 c.94G>A r.(?) p.(Glu32Lys) - VUS g.47531484G>A g.46111570G>A - - COL6A2_000275 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 2i c.115+6del r.(?) p.(?) - VUS g.47531511del g.46111597del 115+6delA - COL6A2_000276 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 2i c.115+10G>T r.spl p.(=) - VUS g.47531515G>T g.46111601G>T - - COL6A2_000277 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 2i c.116-34G>A r.(?) p.(=) - VUS g.47531859G>A g.46111945G>A - - COL6A2_000069 from website {DBsub-Emory} - - - Germline - - - 0 - Madhuri Hegde
-?/. - c.116-34G>A r.(=) p.(=) - likely benign g.47531859G>A g.46111945G>A - - COL6A2_000069 24 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117154313 Germline - 24/2793 individuals - 0 - Mohammed Faruq
?/. 3 c.148G>A r.(?) p.(Val50Met) - VUS g.47531925G>A g.46112011G>A - - COL6A2_000131 - PubMed: Butterfield - - Germline ? - - 0 - Russell Butterfield
?/. 3 c.167G>A r.(?) p.(Ser56Asn) - VUS g.47531944G>A g.46112030G>A - - COL6A2_000278 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.169G>A r.(?) p.(Val57Ile) - VUS g.47531946G>A g.46112032G>A - - COL6A2_000279 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.176T>C r.(?) p.(Met59Thr) - VUS g.47531953T>C g.46112039T>C - - COL6A2_000280 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.176T>C r.(?) p.(Met59Thr) - VUS g.47531953T>C g.46112039T>C - - COL6A2_000280 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.181T>C r.(?) p.(Ser61Pro) - VUS g.47531958T>C g.46112044T>C - - COL6A2_000203 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.188C>T r.(?) p.(Thr63Met) - VUS g.47531965C>T g.46112051C>T - - COL6A2_000281 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. - 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 - - - 0 - VKGL-NL_AMC
?/. - c.202T>C r.(?) p.(Phe68Leu) - VUS g.47531979T>C - COL6A2(NM_058175.2):c.202T>C (p.F68L) - COL6A2_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 3 c.224C>T r.(?) p.(Pro75Leu) - VUS g.47532001C>T g.46112087C>T - - COL6A2_000282 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.229T>C r.(?) p.(Phe77Leu) - VUS g.47532006T>C g.46112092T>C - - COL6A2_000283 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.284G>A r.(?) p.(Arg95His) - VUS g.47532061G>A g.46112147G>A - - COL6A2_000284 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 3 c.310C>T r.(?) p.(Gln104Ter) - pathogenic g.47532087C>T g.46112173C>T - - COL6A2_000462 - PubMed: Ganapathy 2019 - - Germline - - - 0 - Johan den Dunnen
?/. 3 c.316G>A r.(?) p.(Glu106Lys) - VUS g.47532093G>A g.46112179G>A - - COL6A2_000070 - PubMed: O'Grady 2016 - - Germline yes - - 0 - Shireen Lamandé
?/. 3 c.316G>A r.(?) p.(Glu106Lys) - VUS g.47532093G>A g.46112179G>A - - COL6A2_000070 from website {DBsub-Emory} - - - Germline - - - 0 - Madhuri Hegde
+/. 3 c.316G>A r.(?) p.Glu106Lys - pathogenic g.47532093G>A g.46112179G>A - - COL6A2_000070 - - - - Germline yes - - 0 - Alessandra Ferlini
-/. - c.316G>A r.(?) p.(Glu106Lys) - benign 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 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.316G>A r.(?) p.(Glu106Lys) - likely benign 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 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.316G>A r.(?) p.(Glu106Lys) - likely benign 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 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.316G>A r.(?) p.(Glu106Lys) - likely benign 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 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 3 c.332C>T r.(?) p.(Pro111Leu) - VUS g.47532109C>T g.46112195C>T - - COL6A2_000285 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 3 c.348dup r.(?) p.(Ser117Leufs*159) - pathogenic g.47532125dup g.46112211dup - - COL6A2_000164 - - - - Germline ? - - 0 - Alessandra Ferlini
?/. 3 c.386G>A r.(?) p.(Arg129His) - VUS g.47532163G>A g.46112249G>A - - COL6A2_000286 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+?/. - c.388C>T r.(?) p.(Arg130Cys) - likely pathogenic g.47532165C>T g.46112251C>T - - COL6A2_000202 The variant is presdicted damaging in both polyphen and mutation taster. Appears twice in Exac. Found in combination with two COL6A1 ESS mutations. MYO-SEQ project, UK - - Germline ? - - 0 - Alison Blain
+?/. - c.388C>T r.(?) p.(Arg130Cys) - likely pathogenic g.47532165C>T g.46112251C>T - - COL6A2_000202 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - 0 - Johan den Dunnen
?/. 3 c.410C>T r.(?) p.(Ala137Val) - VUS g.47532187C>T g.46112273C>T - - COL6A2_000287 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.436C>T r.(?) p.(Arg146Trp) - VUS g.47532213C>T g.46112299C>T - - COL6A2_000288 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.436C>T r.(?) p.(Arg146Trp) - VUS g.47532213C>T g.46112299C>T - - COL6A2_000288 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.446G>A r.(?) p.(Arg149His) - VUS g.47532223G>A g.46112309G>A - - COL6A2_000289 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.472G>A r.(?) p.(Val158Met) - VUS g.47532249G>A g.46112335G>A - - COL6A2_000290 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. - c.472G>A r.(?) p.(Val158Met) - VUS g.47532249G>A - COL6A2(NM_058175.2):c.472G>A (p.V158M) - COL6A2_000290 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.483C>T r.(?) p.(Thr161=) - benign g.47532260C>T g.46112346C>T - - COL6A2_000240 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. 3 c.493G>A r.(?) p.(Val165Ile) - VUS g.47532270G>A g.46112356G>A - - COL6A2_000291 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. - 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 - - - 0 - VKGL-NL_AMC
?/. - 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 - 0 - Johan den Dunnen
-?/. 3 c.507C>T r.(?) p.(=) - likely benign g.47532284C>T g.46112370C>T - - COL6A2_000138 - PubMed: Butterfield - - Germline ? - - 0 - Russell Butterfield
?/. 3 c.510C>T r.(?) p.(=) - VUS g.47532287C>T g.46112373C>T - - COL6A2_000071 from website {DBsub-Emory} - - - Germline - - - 0 - Madhuri Hegde
-?/. - c.510C>T r.(?) p.(Cys170=) - likely benign g.47532287C>T g.46112373C>T COL6A2(NM_058175.2):c.510C>T (p.C170=) - COL6A2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.510C>T r.(?) p.(Cys170=) - likely benign g.47532287C>T g.46112373C>T COL6A2(NM_058175.2):c.510C>T (p.C170=) - COL6A2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 3 c.511G>A r.(?) p.(Gly171Arg) - pathogenic g.47532288G>A g.46112374G>A - - COL6A2_000159 - - - - Germline yes - - 0 - Alessandra Ferlini
?/. - c.511G>A r.(?) p.(Gly171Arg) - VUS g.47532288G>A g.46112374G>A COL6A2(NM_058175.2):c.511G>A (p.G171R) - COL6A2_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.511G>A r.(?) p.(Gly171Arg) - likely benign g.47532288G>A g.46112374G>A COL6A2(NM_058175.2):c.511G>A (p.G171R) - COL6A2_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. 3 c.511G>A r.(?) p.(Gly171Arg) - VUS g.47532288G>A g.46112374G>A - - COL6A2_000159 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.511G>A r.(?) p.(Gly171Arg) - VUS g.47532288G>A g.46112374G>A - - COL6A2_000159 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.511G>A r.(?) p.(Gly171Arg) - VUS g.47532288G>A g.46112374G>A - - COL6A2_000159 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.511G>A r.(?) p.(Gly171Arg) - VUS g.47532288G>A g.46112374G>A - - COL6A2_000159 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.511G>A r.(?) p.(Gly171Arg) - VUS g.47532288G>A g.46112374G>A - - COL6A2_000159 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.511G>A r.(?) p.(Gly171Arg) - VUS g.47532288G>A g.46112374G>A - - COL6A2_000159 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.511G>A r.(?) p.(Gly171Arg) - VUS g.47532288G>A g.46112374G>A - - COL6A2_000159 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.511G>A r.(?) p.(Gly171Arg) - VUS g.47532288G>A g.46112374G>A - - COL6A2_000159 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.511G>A r.(?) p.(Gly171Arg) - VUS g.47532288G>A g.46112374G>A - - COL6A2_000159 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.511G>A r.(?) p.(Gly171Arg) - VUS g.47532288G>A g.46112374G>A - - COL6A2_000159 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.511G>A r.(?) p.(Gly171Arg) - VUS g.47532288G>A g.46112374G>A - - COL6A2_000159 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.511G>A r.(?) p.(Gly171Arg) - VUS g.47532288G>A g.46112374G>A - - COL6A2_000159 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.511G>A r.(?) p.(Gly171Arg) - VUS g.47532288G>A g.46112374G>A - - COL6A2_000159 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
-?/. - c.511G>A r.(?) p.(Gly171Arg) - likely benign g.47532288G>A - COL6A2(NM_058175.2):c.511G>A (p.G171R) - COL6A2_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 3 c.532G>A r.(?) p.(Glu178Lys) - likely benign g.47532309G>A g.46112395G>A - - COL6A2_000128 - - - - Germline - - - 0 - Tom Winder
?/. - 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
?/. 3 c.545A>G r.(?) p.(Glu182Gly) - VUS g.47532322A>G g.46112408A>G - - COL6A2_000292 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.568G>A r.(?) p.(Val190Met) - VUS g.47532345G>A g.46112431G>A - - COL6A2_000293 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.568G>A r.(?) p.(Val190Met) - VUS g.47532345G>A g.46112431G>A - - COL6A2_000293 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.568G>A r.(?) p.(Val190Met) - VUS g.47532345G>A g.46112431G>A - - COL6A2_000293 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.581A>G r.(?) p.(Gln194Arg) - VUS g.47532358A>G g.46112444A>G - - COL6A2_000294 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.596A>G r.(?) p.(Gln199Arg) - VUS g.47532373A>G g.46112459A>G - - COL6A2_000295 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.605G>A r.(?) p.(Arg202Gln) - VUS g.47532382G>A g.46112468G>A - - COL6A2_000296 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.627C>T r.(?) p.(=) - VUS g.47532404C>T g.46112490C>T - - COL6A2_000297 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.628G>A r.(?) p.(Glu210Lys) - VUS g.47532405G>A g.46112491G>A - - COL6A2_000298 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.628G>A r.(?) p.(Glu210Lys) - VUS g.47532405G>A g.46112491G>A - - COL6A2_000298 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. - c.628G>A r.(?) p.(Glu210Lys) - VUS g.47532405G>A - g.14395G>A - COL6A2_000298 - PubMed: Saat 2021 - - Germline - - - 0 - Ibrahim Sahin
?/. 3 c.637C>T r.(?) p.(Arg213Cys) - VUS g.47532414C>T g.46112500C>T - - COL6A2_000299 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.638G>A r.(?) p.(Arg213His) - VUS g.47532415G>A g.46112501G>A - - COL6A2_000300 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+?/. 3 c.641_645del r.(?) p.(Asn214Ilefs*60) - likely pathogenic g.47532418_47532422del g.46112504_46112508del - - COL6A2_000052 - - - - Germline - - - 0 - Tom Winder
?/. 3 c.643G>A r.(?) p.(Asp215Asn) - VUS g.47532420G>A g.46112506G>A - - COL6A2_000301 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
-?/. - c.643G>A r.(?) p.(Asp215Asn) - likely benign g.47532420G>A g.46112506G>A COL6A2(NM_058175.2):c.643G>A (p.D215N) - COL6A2_000301 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 3 c.663C>T r.(?) p.(=) - benign g.47532440C>T g.46112526C>T - - COL6A2_000072 from website {DBsub-Emory} - - - Germline - - - 0 - Madhuri Hegde
-/. 3 c.663C>T r.663c>u p.= - benign g.47532440C>T g.46112526C>T P221P - COL6A2_000072 - PubMed: Gualandi 2012 - - Germline ? - - 0 - Alessandra Ferlini
-/. - c.663C>T r.(?) p.(Pro221=) - 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=) - COL6A2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.663C>T r.(?) p.(Pro221=) - 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=) - COL6A2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.663C>T r.(?) p.(Pro221=) - 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=) - COL6A2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
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