Full data view for gene COL6A2

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     

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     
+/. 1i c.-27(-3053 _-2994)_-27(-900_-856)del r.0 p.0 Paternal (confirmed) - 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 - DNA, RNA arrayCGH, RT-PCR, SEQ - - UCMD ? PubMed: Bovolenta 2010 - F - Italy - - 0 - - 1 Alessandra Ferlini
+/. - c.? r.(?) p.(?) Parent #1 - pathogenic g.? - - - COL6A2_000008 protein domain TH PubMed: Camacho 2001, OMIM:var0003 - - De novo - - DdeI 0 - DNA, RNA RT-PCR, HD, SEQ - - UCMD - PubMed: Camacho 2001, OMIM:var0003 - - - Italy - - 0 - - 1 Johan den Dunnen
+?/. 16 c.? r.(?) p.G2065S Parent #1 - likely pathogenic g.? - 6193G>A (G2065S) - COL6A2_000000 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.? r.(?) p.V117A Parent #1 - VUS g.? - 350T>C (V117A) - COL6A2_000000 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 1_28 c.(?_-82)_(*297_?)del r.0 p.0 Parent #1 - pathogenic g.? - - - COL6A2_000000 69 Kb deletion L Medne ASHG 2010 A1669 - - Germline - - - 0 - DNA arraySNP - - UCMD ? L Medne ASHG 2010 A1669 - ? - ? (unknown) - - 0 - - 1 Johan den Dunnen
?/. 5' UTR c.-6G>A r.spl p.(=) Parent #1 - VUS g.47531385G>A g.46111471G>A - - COL6A2_000273 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. _1_18i_ c.(?_-1)_(1521+1_?)del r.0 p.0 Paternal (confirmed) - pathogenic g.(47500000_47531390)_(47541533_47552467)del - - - COL6A2_000144 69 kb deletion PubMed: Foley 2011 - - Germline yes - - 0 - DNA, RNA arrayCNV, RT-PCR - - UCMD ? PubMed: Foley 2011 2-generation family, 1 affected, unaffected carrier parents, brother carries large deletion (has global developmental delays, epilepsy) M no United States - - 0 - - 2 Johan den Dunnen
+/. _1_28_ c.(?_-1)_(*1_?)del r.0 p.0 Maternal (confirmed) - pathogenic g.(46400000_46480000)_(48085000_qter)del - - - COL6A1_000162 1.6 Mb deletion ADARB1_PRMT2 (incl. COL6A1, COL6A2) PubMed: Foley 2011 - - Germline ? - - 0 - DNA arrayCNV - - UCMD ? PubMed: Foley 2011, Medne ASHG 2010 A1669 2-generation family, 1 affected, unaffected carrier parents M no United States - - 0 - - 1 Johan den Dunnen
+/. _1_28_ c.(?_-1)_(*1_?)del r.0 p.0 Paternal (confirmed) - pathogenic g.(46950000_47250000)_(48085000_qter)del - - - COL6A1_000161 1.09 Mb deletion PCBP3_PRMT2 (Incl. COL6A1, COL6A2) PubMed: Foley 2011 - - Germline ? - - 0 - DNA arrayCNV - - ? ? PubMed: Foley 2011 2-generation family, individual and unafected carrier father M no United States - - 0 - - 2 Johan den Dunnen
+/. _1_28_ c.(?_-1)_(*1_?)del r.0 p.0 Paternal (confirmed) - pathogenic g.(47450000_47531390)_(47552467_47572000)del - - - COL6A2_000145 47 kb deletion - - - Germline yes - - 0 - DNA arrayCNV - - UCMD ? PubMed: Foley 2011, Medne ASHG 2010 A1669 2-generation family, 1 affected, unaffected carrier parents M no United States - - 0 - - 1 Johan den Dunnen
+?/. 4i_5i c.(735+1_802-1)? r.736_801del p.(del) Unknown - likely pathogenic g.(47532739_47535785)? g.(46112825_46115871)? 736_801del66 - COL6A2_000185 - PubMed: O'Grady 2016 - - De novo - - - 0 - DNA SEQ - - MDC Pat101 PubMed: O'Grady 2016 - F - Australia - >14y 0 - - 1 Shireen Lamandé
+/. - c.13_25del r.(?) p.(Thr5Serfs*62) Parent #1 - pathogenic g.47531403_47531415del g.46111489_46111501del c.11_23delGCACCTGCTCCGT - COL6A2_000452 - PubMed: Yu 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - candidate 420-gene panel LGMD P152 PubMed: Yu 2017 analysis 180 LGMD patients M - China - - 0 - - 1 Johan den Dunnen
?/. 2 c.22G>A r.(?) p.(Val8Met) Parent #1 - VUS g.47531412G>A g.46111498G>A - - COL6A2_000274 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 2 c.22G>A r.(?) p.(Val8Met) Parent #1 - VUS g.47531412G>A g.46111498G>A - - COL6A2_000274 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 2 c.22G>A r.(?) p.(Val8Met) Parent #1 - VUS g.47531412G>A g.46111498G>A - - COL6A2_000274 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+?/. 2 c.38del r.(?) p.(Gly13GlufsTer58) Both (homozygous) - likely pathogenic g.47531428del g.46111514del - - COL6A2_000461 - PubMed: Ganapathy 2019 - - Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? S-5468 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
?/. 2 c.94G>A r.(?) p.(Glu32Lys) Parent #1 - VUS g.47531484G>A g.46111570G>A - - COL6A2_000275 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 2i c.115+6del r.(?) p.(?) Parent #1 - VUS g.47531511del g.46111597del 115+6delA - COL6A2_000276 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 2i c.115+10G>T r.spl p.(=) Parent #1 - VUS g.47531515G>T g.46111601G>T - - COL6A2_000277 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 2i c.116-34G>A r.(?) p.(=) Unknown - VUS g.47531859G>A g.46111945G>A - - COL6A2_000069 from website {DBsub-Emory} - - - Germline - - - 0 - DNA SEQ - - ? ? - - - - (United States) - - 0 - - 1 Madhuri Hegde
-?/. - c.116-34G>A r.(=) p.(=) Parent #1 - 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 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 24 Mohammed Faruq
?/. 3 c.148G>A r.(?) p.(Val50Met) Unknown - VUS g.47531925G>A g.46112011G>A - - COL6A2_000131 - PubMed: Butterfield - - Germline ? - - 0 - DNA PCR, SEQ - - UCMD Gly_34 PubMed: Butterfield - M - (United States) - - 0 - - 1 Russell Butterfield
?/. 3 c.167G>A r.(?) p.(Ser56Asn) Parent #1 - VUS g.47531944G>A g.46112030G>A - - COL6A2_000278 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.169G>A r.(?) p.(Val57Ile) Parent #1 - VUS g.47531946G>A g.46112032G>A - - COL6A2_000279 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.176T>C r.(?) p.(Met59Thr) Parent #1 - VUS g.47531953T>C g.46112039T>C - - COL6A2_000280 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.176T>C r.(?) p.(Met59Thr) Parent #1 - VUS g.47531953T>C g.46112039T>C - - COL6A2_000280 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.181T>C r.(?) p.(Ser61Pro) Both (homozygous) - VUS g.47531958T>C g.46112044T>C - - COL6A2_000203 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.188C>T r.(?) p.(Thr63Met) Parent #1 - VUS g.47531965C>T g.46112051C>T - - COL6A2_000281 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. - c.202T>C r.(?) p.(Phe68Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/. - c.202T>C r.(?) p.(Phe68Leu) Unknown - VUS g.47531979T>C - COL6A2(NM_058175.2):c.202T>C (p.F68L) - COL6A2_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.224C>T r.(?) p.(Pro75Leu) Parent #1 - VUS g.47532001C>T g.46112087C>T - - COL6A2_000282 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.229T>C r.(?) p.(Phe77Leu) Parent #1 - VUS g.47532006T>C g.46112092T>C - - COL6A2_000283 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.284G>A r.(?) p.(Arg95His) Parent #1 - VUS g.47532061G>A g.46112147G>A - - COL6A2_000284 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 3 c.310C>T r.(?) p.(Gln104Ter) Both (homozygous) - pathogenic g.47532087C>T g.46112173C>T - - COL6A2_000462 - PubMed: Ganapathy 2019 - - Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? S-5310 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
?/. 3 c.316G>A r.(?) p.(Glu106Lys) Paternal (confirmed) - VUS g.47532093G>A g.46112179G>A - - COL6A2_000070 - PubMed: O'Grady 2016 - - Germline yes - - 0 - DNA SEQ - - MDC Pat101 PubMed: O'Grady 2016 - F - Australia - >14y 0 - - 1 Shireen Lamandé
?/. 3 c.316G>A r.(?) p.(Glu106Lys) Unknown - VUS g.47532093G>A g.46112179G>A - - COL6A2_000070 from website {DBsub-Emory} - - - Germline - - - 0 - DNA SEQ - - ? ? - - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 3 c.316G>A r.(?) p.Glu106Lys Paternal (confirmed) - pathogenic g.47532093G>A g.46112179G>A - - COL6A2_000070 - - - - Germline yes - - 0 - DNA SEQ - - BTHLM-1 ? - - - - Italy - - 0 - - 1 Alessandra Ferlini
-/. - c.316G>A r.(?) p.(Glu106Lys) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.316G>A r.(?) p.(Glu106Lys) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.316G>A r.(?) p.(Glu106Lys) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.316G>A r.(?) p.(Glu106Lys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.332C>T r.(?) p.(Pro111Leu) Parent #1 - VUS g.47532109C>T g.46112195C>T - - COL6A2_000285 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 3 c.348dup r.(?) p.(Ser117Leufs*159) Parent #1 - pathogenic g.47532125dup g.46112211dup - - COL6A2_000164 - - - - Germline ? - - 0 - DNA SEQ - - UCMD ? - - - - Italy - - 0 - - 1 Alessandra Ferlini
?/. 3 c.386G>A r.(?) p.(Arg129His) Parent #1 - VUS g.47532163G>A g.46112249G>A - - COL6A2_000286 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+?/. - c.388C>T r.(?) p.(Arg130Cys) Unknown - 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 - DNA SEQ-NG-I blood - BTHLM-1 MYO-SEQ Pat12 MYO-SEQ project, UK - M no United Kingdom (Great Britain) - - 0 - - 1 Alison Blain
+?/. - c.388C>T r.(?) p.(Arg130Cys) Unknown - likely pathogenic g.47532165C>T g.46112251C>T - - COL6A2_000202 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - 0 - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - 1 Johan den Dunnen
?/. 3 c.410C>T r.(?) p.(Ala137Val) Parent #1 - VUS g.47532187C>T g.46112273C>T - - COL6A2_000287 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.436C>T r.(?) p.(Arg146Trp) Parent #1 - VUS g.47532213C>T g.46112299C>T - - COL6A2_000288 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.436C>T r.(?) p.(Arg146Trp) Parent #1 - VUS g.47532213C>T g.46112299C>T - - COL6A2_000288 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.446G>A r.(?) p.(Arg149His) Parent #1 - VUS g.47532223G>A g.46112309G>A - - COL6A2_000289 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.472G>A r.(?) p.(Val158Met) Parent #1 - VUS g.47532249G>A g.46112335G>A - - COL6A2_000290 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. - c.472G>A r.(?) p.(Val158Met) Unknown - VUS g.47532249G>A - COL6A2(NM_058175.2):c.472G>A (p.V158M) - COL6A2_000290 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.483C>T r.(?) p.(Thr161=) Unknown - benign g.47532260C>T g.46112346C>T - - COL6A2_000240 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 3 c.493G>A r.(?) p.(Val165Ile) Parent #1 - VUS g.47532270G>A g.46112356G>A - - COL6A2_000291 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. - c.499G>A r.(?) p.(Gly167Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/. - c.503G>T r.(?) p.(Ser168Ile) Unknown - VUS g.47532280G>T g.46112366G>T - - COL6A2_000449 - PubMed: Punetha 2016 - - Germline/De novo (untested) - 1/94 cases - 0 - DNA SEQ, SEQ-NG - gene panel MDC Pat43 PubMed: Punetha 2016 analysis 94 myopathy cases - - - - - 0 - - 1 Johan den Dunnen
-?/. 3 c.507C>T r.(?) p.(=) Parent #1 - likely benign g.47532284C>T g.46112370C>T - - COL6A2_000138 - PubMed: Butterfield - - Germline ? - - 0 - DNA PCR, SEQ - - BTHLM-1 Gly_79 PubMed: Butterfield - F - (United States) - - 0 - - 1 Russell Butterfield
?/. 3 c.510C>T r.(?) p.(=) Unknown - VUS g.47532287C>T g.46112373C>T - - COL6A2_000071 from website {DBsub-Emory} - - - Germline - - - 0 - DNA SEQ - - ? ? - - - - (United States) - - 0 - - 1 Madhuri Hegde
-?/. - c.510C>T r.(?) p.(Cys170=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.510C>T r.(?) p.(Cys170=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.511G>A r.(?) p.(Gly171Arg) Maternal (confirmed) - pathogenic g.47532288G>A g.46112374G>A - - COL6A2_000159 - - - - Germline yes - - 0 - DNA SEQ - - BTHLM-1 ? - - - - Italy - - 0 - - 1 Alessandra Ferlini
?/. - c.511G>A r.(?) p.(Gly171Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-?/. - c.511G>A r.(?) p.(Gly171Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/. 3 c.511G>A r.(?) p.(Gly171Arg) Parent #1 - VUS g.47532288G>A g.46112374G>A - - COL6A2_000159 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel Healthy/Control, LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.511G>A r.(?) p.(Gly171Arg) Parent #1 - VUS g.47532288G>A g.46112374G>A - - COL6A2_000159 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.511G>A r.(?) p.(Gly171Arg) Parent #1 - VUS g.47532288G>A g.46112374G>A - - COL6A2_000159 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.511G>A r.(?) p.(Gly171Arg) Parent #1 - VUS g.47532288G>A g.46112374G>A - - COL6A2_000159 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.511G>A r.(?) p.(Gly171Arg) Parent #1 - VUS g.47532288G>A g.46112374G>A - - COL6A2_000159 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.511G>A r.(?) p.(Gly171Arg) Parent #1 - VUS g.47532288G>A g.46112374G>A - - COL6A2_000159 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.511G>A r.(?) p.(Gly171Arg) Parent #1 - VUS g.47532288G>A g.46112374G>A - - COL6A2_000159 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.511G>A r.(?) p.(Gly171Arg) Parent #1 - VUS g.47532288G>A g.46112374G>A - - COL6A2_000159 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.511G>A r.(?) p.(Gly171Arg) Parent #1 - VUS g.47532288G>A g.46112374G>A - - COL6A2_000159 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.511G>A r.(?) p.(Gly171Arg) Parent #1 - VUS g.47532288G>A g.46112374G>A - - COL6A2_000159 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.511G>A r.(?) p.(Gly171Arg) Parent #1 - VUS g.47532288G>A g.46112374G>A - - COL6A2_000159 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.511G>A r.(?) p.(Gly171Arg) Parent #1 - VUS g.47532288G>A g.46112374G>A - - COL6A2_000159 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.511G>A r.(?) p.(Gly171Arg) Parent #1 - VUS g.47532288G>A g.46112374G>A - - COL6A2_000159 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
-?/. - c.511G>A r.(?) p.(Gly171Arg) Unknown - likely benign g.47532288G>A - COL6A2(NM_058175.2):c.511G>A (p.G171R) - COL6A2_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 3 c.532G>A r.(?) p.(Glu178Lys) Unknown - likely benign g.47532309G>A g.46112395G>A - - COL6A2_000128 - - - - Germline - - - 0 - DNA PCR, SEQ - - ? ? - - F - United States - - 0 - - 1 Tom Winder
?/. - c.542G>A r.(?) p.(Arg181His) Unknown - VUS g.47532319G>A - COL6A2(NM_058175.2):c.542G>A (p.R181H) - COL6A2_000458 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.545A>G r.(?) p.(Glu182Gly) Parent #1 - VUS g.47532322A>G g.46112408A>G - - COL6A2_000292 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.568G>A r.(?) p.(Val190Met) Parent #1 - VUS g.47532345G>A g.46112431G>A - - COL6A2_000293 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.568G>A r.(?) p.(Val190Met) Parent #1 - VUS g.47532345G>A g.46112431G>A - - COL6A2_000293 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.568G>A r.(?) p.(Val190Met) Parent #1 - VUS g.47532345G>A g.46112431G>A - - COL6A2_000293 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.581A>G r.(?) p.(Gln194Arg) Parent #1 - VUS g.47532358A>G g.46112444A>G - - COL6A2_000294 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.596A>G r.(?) p.(Gln199Arg) Parent #1 - VUS g.47532373A>G g.46112459A>G - - COL6A2_000295 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.605G>A r.(?) p.(Arg202Gln) Parent #1 - VUS g.47532382G>A g.46112468G>A - - COL6A2_000296 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.627C>T r.(?) p.(=) Parent #1 - VUS g.47532404C>T g.46112490C>T - - COL6A2_000297 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.628G>A r.(?) p.(Glu210Lys) Parent #1 - VUS g.47532405G>A g.46112491G>A - - COL6A2_000298 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.628G>A r.(?) p.(Glu210Lys) Parent #1 - VUS g.47532405G>A g.46112491G>A - - COL6A2_000298 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. - c.628G>A r.(?) p.(Glu210Lys) Parent #1 - VUS g.47532405G>A - g.14395G>A - COL6A2_000298 - PubMed: Saat 2021 - - Germline - - - 0 - DNA SEQ-NG - - MDC Pat15 PubMed: Saat 2021 - M no Turkey - - 0 - - 1 Ibrahim Sahin
?/. 3 c.637C>T r.(?) p.(Arg213Cys) Parent #1 - VUS g.47532414C>T g.46112500C>T - - COL6A2_000299 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.638G>A r.(?) p.(Arg213His) Parent #1 - VUS g.47532415G>A g.46112501G>A - - COL6A2_000300 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+?/. 3 c.641_645del r.(?) p.(Asn214Ilefs*60) Unknown - likely pathogenic g.47532418_47532422del g.46112504_46112508del - - COL6A2_000052 - - - - Germline - - - 0 - DNA SEQ - - ? ? - - - - (United States) - - 0 - - 1 Tom Winder
?/. 3 c.643G>A r.(?) p.(Asp215Asn) Parent #1 - VUS g.47532420G>A g.46112506G>A - - COL6A2_000301 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
-?/. - c.643G>A r.(?) p.(Asp215Asn) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.663C>T r.(?) p.(=) Unknown - benign g.47532440C>T g.46112526C>T - - COL6A2_000072 from website {DBsub-Emory} - - - Germline - - - 0 - DNA SEQ - - ? ? - - - - (United States) - - 0 - - 1 Madhuri Hegde
-/. 3 c.663C>T r.663c>u p.= Parent #1 - benign g.47532440C>T g.46112526C>T P221P - COL6A2_000072 - PubMed: Gualandi 2012 - - Germline ? - - 0 - DNA, RNA RT-PCR, SEQ - - UCMD ? PubMed: Gualandi 2012 - - - Italy - - 0 - - 1 Alessandra Ferlini
-/. - c.663C>T r.(?) p.(Pro221=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. - c.663C>T r.(?) p.(Pro221=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. - c.663C>T r.(?) p.(Pro221=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
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