Unique variants in the COL6A1 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_001848.2 transcript reference sequence.

412 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     
-/. 4 1 c.-5C>G r.(?) p.(=) - benign g.47401760C>G g.45981846C>G COL6A1(NM_001848.2):c.-5C>G - COL6A1_000054 from website {DBsub-Emory}, VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 2 5' UTR c.-1C>T r.(?) p.(=) - VUS g.47401764C>T g.45981850C>T - - COL6A1_000257 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 2 _1_35_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(46400000_46480000)_(48085000_qter)del, g.(46950000_47250000)_(48085000_qter)del - - - COL6A1_000161, COL6A1_000162 1.09 Mb deletion PCBP3_PRMT2 (Incl. COL6A1, COL6A2), 1 more item PubMed: Foley 2011 - - Germline ? - - - - Johan den Dunnen
?/. 3 3, 36, 5i c.? r.(?) p.(?), p.? - VUS g.? - 139G>A (V47M), 7342G>T (V2448F), c.717+4A - COL6A1_000000 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 1 c.74C>A r.(?) p.(Thr25Asn) - VUS g.47401838C>A g.45981924C>A - - COL6A1_000258 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 2 1i c.98-3C>G r.spl, r.spl? p.? - VUS g.47402545C>G g.45982631C>G COL6A1(NM_001848.2):c.98-3C>G - COL6A1_000259 VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_VUmc
+/. 1 - c.98-2A>G r.spl? p.? - pathogenic g.47402546A>G g.45982632A>G - - COL6A1_000229 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 1i_2 c.98-2_103del r.spl p.? - pathogenic g.47402546_47402553del g.45982632_45982639del 98-2_103delAGACTGC - COL6A1_000260 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/., ?/. 3 2 c.105C>G r.(?) p.(=), p.(Pro35=) - likely benign, VUS g.47402555C>G g.45982641C>G COL6A1(NM_001848.2):c.105C>G (p.P35=) - COL6A1_000055 from website {DBsub-Emory}, VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/. 1 - c.128A>C r.(?) p.(Asp43Ala) - pathogenic (recessive) g.47402578A>C g.45982664A>C - - COL6A1_000256 - PubMed: Saha 2018, Journal: Saha 2018 - rs786205555 Germline yes - - - - Johan den Dunnen
?/. 1 2 c.138G>C r.(?) p.(Glu46Asp) - VUS g.47402588G>C g.45982674G>C - - COL6A1_000261 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 12 2 c.170C>A r.(?) p.(Ala57Asp) - VUS g.47402620C>A g.45982706C>A COL6A1(NM_001848.2):c.170C>A (p.A57D) - COL6A1_000262 no second variant, VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_VUmc
?/. 6 2 c.202C>T r.(?) p.(Arg68Cys) - VUS g.47402652C>T g.45982738C>T - - COL6A1_000155 no second variant, no second variant in COL6A1 PubMed: Butterfield, PubMed: Nallamilli 2018 - - Germline ? - - - - Madhuri Hegde, Russell Butterfield
?/. 1 2 c.225C>T r.spl p.? - VUS g.47402675C>T g.45982761C>T - - COL6A1_000424 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
?/. 1 2 c.226A>C r.(?) p.(=) - VUS g.47402676A>C g.45982762A>C - - COL6A1_000263 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-/. 1 3 c.235C>T r.(?) p.(Arg79Cys) - benign g.47404190C>T g.45984276C>T - - COL6A1_000036 - - - - De novo - - - - - Tom Winder
?/. 1 3 c.247A>G r.(?) p.(Asn83Asp) - VUS g.47404202A>G g.45984288A>G - - COL6A1_000264 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 3 c.262G>A r.(?) p.(Ala88Thr) - VUS g.47404217G>A g.45984303G>A - - COL6A1_000425 - PubMed: Ganapathy 2019 - rs540429266 Germline - - - - - Johan den Dunnen
?/. 1 3 c.285C>G r.(?) p.(Asp95Glu) - VUS g.47404240C>G g.45984326C>G - - COL6A1_000265 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/. 1 3 c.297del r.(?) p.(Ile100SerfsTer48) - likely pathogenic g.47404252del g.45984338del - - COL6A1_000426 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
?/. 1 3 c.311C>T r.(?) p.(Thr104Met) - VUS g.47404266C>T g.45984352C>T - - COL6A1_000266 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 2 3 c.324C>T r.(?) p.(=) - VUS g.47404279C>T g.45984365C>T - - COL6A1_000267 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 2 3 c.325G>A r.(?) p.(Gly109Ser) - VUS g.47404280G>A g.45984366G>A - - COL6A1_000268 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 - c.344G>C r.(?) p.(Ser115Thr) - VUS g.47404299G>C g.45984385G>C COL6A1(NM_001848.2):c.344G>C (p.S115T) - COL6A1_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/., -/. 8 3 c.347G>A r.(?), r.347g>a p.(Ser116Asn) - benign, likely pathogenic g.47404302G>A g.45984388G>A COL6A1(NM_001848.2):c.347G>A (p.S116N), G347A - COL6A1_000001 from website {DBsub-Emory}, no confirmatory data; protein domain N1, 1 more item PubMed: Giusti 2005, PubMed: Lampe 2005 - rs11553519 CLASSIFICATION record, Germline - 3/54 cases - - - Johan den Dunnen, Madhuri Hegde, Anne Lampe, Andreas Laner, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 2 3 c.349G>A r.(?) p.(Val117Met) - VUS g.47404304G>A g.45984390G>A 7 - COL6A1_000147 unaffected mother carries this allele PubMed: Butterfield - - De novo yes - - - - Russell Butterfield
+/., ?/. 10 3 c.350T>C r.(?), r.350u>c p.(Val117Ala), p.Val117Ala - pathogenic, VUS g.47404305T>C g.45984391T>C - - COL6A1_000056 0/200 control chromosomes; no skipping exon3, from website {DBsub-Emory}, no second variant PubMed: Nallamilli 2018 - - Germline yes - - - - Madhuri Hegde, Alessandra Ferlini
?/. 1 3 c.357G>A r.(?) p.(=) - VUS g.47404312G>A g.45984398G>A - - COL6A1_000269 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 7 3 c.362A>G r.(?) p.(Lys121Arg) - pathogenic g.47404317A>G g.45984403A>G COL6A1(NM_001848.2):c.362A>G (p.K121R) - COL6A1_000002 0/190 control chromosomes; protein domain N1, from website {DBsub-Emory}, no second variant, 1 more item PubMed: Nallamilli 2018, PubMed: Scacheri 2002, OMIM:var0005 - - CLASSIFICATION record, Germline yes - - - - Johan den Dunnen, Madhuri Hegde, Alessandra Ferlini, VKGL-NL_AMC, Payam Soltanzadeh
?/. 1 3 c.376G>A r.(?) p.(Gly126Ser) - VUS g.47404331G>A g.45984417G>A - - COL6A1_000270 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 3 c.379A>G r.(?) p.(Thr127Ala) - VUS g.47404334A>G g.45984420A>G - - COL6A1_000271 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-/. 1 - c.381C>T r.(?) p.(Thr127=) - benign g.47404336C>T g.45984422C>T COL6A1(NM_001848.2):c.381C>T (p.T127=) - COL6A1_000383 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 3 c.409C>G r.(?) p.(Leu137Val) - VUS g.47404364C>G g.45984450C>G - - COL6A1_000272 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 3 c.424G>A r.424g>A p.Val142Met - pathogenic g.47404379G>A g.45984465G>A - - COL6A1_000167 - - - - Germline yes - - - - Alessandra Ferlini
?/. 1 3 c.424G>C r.(?) p.(Val142Leu) - VUS g.47404379G>C g.45984465G>C - - COL6A1_000273 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 6 3i c.428+1G>A r.363_428del, r.spl, r.spl? p.?, p.Tyr122_Gly143del - pathogenic g.47404384G>A g.45984470G>A COL6A1(NM_001848.2):c.428+1G>A, IVS3+1G>A - COL6A1_000003 0/100 control chromosomes; protein domain N1, protein domain N1, 1 more item PubMed: Lucioli 2005, PubMed: Vanegas 2002, OMIM:var0008 - - CLASSIFICATION record, Germline ? - HphI - - Johan den Dunnen, Anne Lampe, Alessandra Ferlini, VKGL-NL_VUmc
+?/. 1 - c.428+1G>T r.spl p.? - likely pathogenic (dominant) g.47404384G>T g.45984470G>T - - COL6A1_000408 - PubMed: Park 2017 - - Germline - 1/209 cases - - - Johan den Dunnen
+/. 1 - c.428+2T>G r.spl? p.? - pathogenic g.47404385T>G g.45984471T>G - - COL6A1_000230 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 5 3i c.428+14A>G r.(=), r.(?) p.(=) - benign g.47404397A>G g.45984483A>G COL6A1(NM_001848.2):c.428+14A>G - COL6A1_000057 from website {DBsub-Emory}, VKGL data sharing initiative Nederland - - rs3746993 CLASSIFICATION record, Germline - - - - - Madhuri Hegde, Andreas Laner, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/. 1 3i c.428+39C>G r.(?) p.(=) - benign g.47404422C>G g.45984508C>G - - COL6A1_000058 from website {DBsub-Emory} - - - Germline - - - - - Madhuri Hegde
-/. 2 3i c.428+40G>A r.(=), r.(?) p.(=) - benign g.47404423G>A g.45984509G>A - - COL6A1_000059 from website {DBsub-Emory} - - rs71324475 Germline - - - - - Madhuri Hegde, Andreas Laner
-/. 3 3i c.429-19G>A r.(=), r.(?) p.(=) - benign g.47406421G>A g.45986507G>A COL6A1(NM_001848.2):c.429-19G>A - COL6A1_000060 from website {DBsub-Emory}, VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_Nijmegen, VKGL-NL_AMC
+?/. 1 - c.466G>T r.(?) p.(Val156Leu) - likely pathogenic (dominant) g.47406477G>T g.45986563G>T - - COL6A1_000406 - PubMed: Reddy 2017 - - Germline - - - - - Johan den Dunnen
+/. 1 4 c.485del r.(?) p.(Leu162Argfs*15) - pathogenic g.47406496del g.45986582del - - COL6A1_000181 - - - - Germline - - - - - Tom Winder
?/. 1 4 c.541C>T r.(?) p.(His181Tyr) - VUS g.47406552C>T g.45986638C>T - - COL6A1_000274 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 4 c.548G>A r.(?) p.(Gly183Asp) - VUS g.47406559G>A g.45986645G>A - - COL6A1_000275 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 4 c.549C>T r.(?) p.(=) - VUS g.47406560C>T g.45986646C>T - - COL6A1_000061 from website {DBsub-Emory} - - - Germline - - - - - Madhuri Hegde
?/. 2 4 c.556G>C r.(?) p.(Val186Leu) - VUS g.47406567G>C g.45986653G>C - - COL6A1_000231 no second variant, VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_Nijmegen
?/. 1 - c.571A>T r.(?) p.(Ile191Phe) - VUS g.47406582A>T g.45986668A>T - - COL6A1_000232 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 4i c.588+8C>G r.(?) p.(=) - VUS g.47406607C>G g.45986693C>G - - COL6A1_000062 from website {DBsub-Emory} - - - Germline - - - - - Madhuri Hegde
-?/., ?/. 2 4i c.588+12_588+13insA r.(=), r.(?) p.(=) - likely benign, VUS g.47406611_47406612insA g.45986697_45986698insA - - COL6A1_000063 from website {DBsub-Emory}, VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_Nijmegen
-/. 5 4i c.588+13C>A r.(=), r.(?) p.(=) - benign g.47406612C>A g.45986698C>A COL6A1(NM_001848.2):c.588+13C>A - COL6A1_000064 from website {DBsub-Emory}, VKGL data sharing initiative Nederland - - rs754507 CLASSIFICATION record, Germline - - - - - Madhuri Hegde, Andreas Laner, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/., -?/. 3 4i c.588+19dup r.(=), r.(?) p.(=) - benign, likely benign g.47406618dup g.45986704dup 588+19dupC, COL6A1(NM_001848.2):c.588+11_588+12insC (p.(=)), COL6A1(NM_001848.2):c.588+19dupC - COL6A1_000065 from website {DBsub-Emory}, VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_Leiden, VKGL-NL_AMC
-/. 1 4i c.588+37A>G r.(?) p.(=) - benign g.47406636A>G g.45986722A>G - - COL6A1_000066 from website {DBsub-Emory} - - - Germline - - - - - Madhuri Hegde
-?/. 1 - c.589-7C>G r.(=) p.(=) - likely benign g.47406851C>G g.45986937C>G COL6A1(NM_001848.2):c.589-7C>G (p.(=)) - COL6A1_000384 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 3 5 c.593C>T r.(?) p.(Pro198Leu) - VUS g.47406862C>T g.45986948C>T - - COL6A1_000276 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 2 5 c.596G>A r.(?) p.(Arg199His) - pathogenic g.47406865G>A g.45986951G>A - - COL6A1_000168 - - - - Germline ? - - - - Alessandra Ferlini
?/. 1 5 c.607A>G r.(?) p.(Ile203Val) - VUS g.47406876A>G g.45986962A>G - - COL6A1_000277 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 5 c.628C>T r.(?) p.(Arg210Trp) - VUS g.47406897C>T g.45986983C>T - - COL6A1_000278 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 5 c.644C>T r.(?) p.(Ala215Val) - pathogenic g.47406913C>T g.45986999C>T - - COL6A1_000174 - - - - Germline yes - - - - Alessandra Ferlini
-/. 1 5 c.645G>A r.(?) p.(=) - benign g.47406914G>A g.45987000G>A - - COL6A1_000067 from website {DBsub-Emory} - - - Germline - - - - - Madhuri Hegde
?/. 1 5 c.646G>T r.(?) p.(Ala216Ser) - VUS g.47406915G>T g.45987001G>T - - COL6A1_000279 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 4 5 c.665G>A r.(?) p.(Arg222His) - VUS g.47406934G>A g.45987020G>A - - COL6A1_000280 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 1 - c.666C>T r.(?) p.(Arg222=) - likely benign g.47406935C>T g.45987021C>T COL6A1(NM_001848.2):c.666C>T (p.R222=) - COL6A1_000385 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 3 5 c.667G>A r.(?) p.(Asp223Asn) - VUS g.47406936G>A g.45987022G>A COL6A1(NM_001848.2):c.667G>A (p.D223N) - COL6A1_000281 no second variant, VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_VUmc
?/. 1 5 c.674A>T r.(?) p.(Glu225Val) - VUS g.47406943A>T g.45987029A>T - - COL6A1_000282 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 1 - c.705C>T r.(?) p.(Ile235=) - likely benign g.47406974C>T g.45987060C>T - - COL6A1_000233 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., +?/., ?/. 8 5i c.717+4A>G r.spl, r.spl?, r.[=, 717_718ins717+1_718-1{717+4a>g}] p.?, p.[=, Ile239fs*30] - likely pathogenic, pathogenic, VUS g.47406990A>G g.45987076A>G - - COL6A1_000172 combination of variants not reported, variant apparently homozygous, 1 more item MYO-SEQ project, UK, PubMed: Nallamilli 2018, PubMed: Topf 2020 - - Germline ? 3/1001 cases - - - Johan den Dunnen, Madhuri Hegde, Alessandra Ferlini, Alison Blain
-/. 1 5i c.717+32C>T r.(?) p.(=) - benign g.47407018C>T g.45987104C>T - - COL6A1_000068 from website {DBsub-Emory} - - - Germline - - - - - Madhuri Hegde
?/. 1 6i c.738+14C>T r.(?) p.(=) - VUS g.47407103C>T g.45987189C>T - - COL6A1_000069 from website {DBsub-Emory} - - - Germline - - - - - Madhuri Hegde
-/. 3 6i c.739-51C>T r.(=), r.(?) p.(=) - benign g.47407362C>T g.45987448C>T COL6A1(NM_001848.2):c.739-51C>T - COL6A1_000070 from website {DBsub-Emory}, VKGL data sharing initiative Nederland - - rs62215498 CLASSIFICATION record, Germline - - - - - Madhuri Hegde, Andreas Laner, VKGL-NL_AMC
+?/. 1 - c.739-5_741del r.spl p.? - likely pathogenic g.47407408_47407415del g.45987494_45987501del - - COL6A1_000283 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 2 6i c.739-2A>G r.739_759del p.Cys247_Gln253del - pathogenic g.47407411A>G g.45987497A>G - - COL6A1_000022 protein domain N1/TH PubMed: Lucioli 2005 - - Germline - - Dsa I - - Anne Lampe
+/., +?/. 2 6i c.739-1G>A r.739_759del, r.spl? p.?, p.Cys247_Gln253del - likely pathogenic, pathogenic g.47407412G>A g.45987498G>A - - COL6A1_000023 0/200 control chromosomes; protein domain N1/TH, VKGL data sharing initiative Nederland PubMed: Lucioli 2005 - - CLASSIFICATION record, Germline - - - - - Anne Lampe, VKGL-NL_Nijmegen
?/. 1 7 c.750C>A r.(?) p.(Phe250Leu) - VUS g.47407424C>A g.45987510C>A - - COL6A1_000284 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 4 7 c.751G>A r.(?) p.(Glu251Lys) - VUS g.47407425G>A g.45987511G>A - - COL6A1_000285 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 8 c.763G>A r.(?) p.(Ala255Thr) - VUS g.47407527G>A g.45987613G>A - - COL6A1_000286 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 8 c.776C>T r.(?) p.(Pro259Leu) - VUS g.47407540C>T g.45987626C>T - - COL6A1_000287 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 8 c.782_789del r.(?) p.(Leu261Argfs*5) - pathogenic g.47407546_47407553del g.45987632_45987639del 782_789delTCCGGGGC - COL6A1_000288 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 8 c.787G>T r.(?) p.(Gly263Cys) - pathogenic g.47407551G>T g.45987637G>T - - COL6A1_000158 - PubMed: Butterfield - - Germline ? - - - - Russell Butterfield
+?/., ?/. 3 8 c.788G>A r.(?) p.(Gly263Asp) - likely pathogenic, VUS g.47407552G>A g.45987638G>A COL6A1(NM_001848.2):c.788G>A (p.G263D) - COL6A1_000052 VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, Tom Winder, VKGL-NL_AMC
+/. 1 8 c.793_804+9del r.spl p.(Pro254_Glu268del) - likely pathogenic g.47407557_47407577del g.45987643_45987663del 793_804+9del21 - COL6A1_000183 - PubMed: O'Grady 2016 - - De novo - - - - - Shireen Lamandé
?/. 1 8 c.794C>T r.(?) p.(Pro265Leu) - VUS g.47407558C>T g.45987644C>T - - COL6A1_000289 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 8_8i c.798_804+8del r.760_804del p.Pro254_Glu268del - pathogenic g.47407562_47407576del g.45987648_45987662del - - COL6A1_000166 RNA expression both allels near equal PubMed: Martoni 2009 - - De novo yes - - - - Alessandra Ferlini
?/. 1 - c.804+5G>A r.spl? p.? - VUS g.47407573G>A g.45987659G>A - - COL6A1_000386 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 8i_13 c.804+249_973delinsCAGGCT r.805_1001del p.Arg271_Glu336del - pathogenic g.47407817_47410307delinsCAGGCT g.45987903_45990393delinsCAGGCT - - COL6A1_000026 2490 bp deletion exons 9-13; protein domain TH; de novo, in patient PubMed: Pepe 2005 - - De novo - - - - - Anne Lampe
+/. 1 8i c.805-639_1003-16del r.(?) p.(Arg271_Glu336del) - pathogenic g.47408359_47410671del g.45988445_45990757del 804+791_1003-16del - COL6A1_000027 2313 bp deletion exons 9-14; protein domain TH PubMed: Pepe 2005 - - Germline - - - - - Anne Lampe
+/. 1 8i c.805-572_903+7del r.805_903del p.Gly269_Lys301del - pathogenic g.47408426_47409573del g.45988512_45989659del 804+857_903+6del - COL6A1_000004 1.1 Kb deletion, protein domain TH; de novo, in patient PubMed: Pan 2003, OMIM:var0007 - - De novo - - - - - Johan den Dunnen
+/., +?/. 3 8i c.805-2A>G r.spl, r.spl? p.? - likely pathogenic, pathogenic g.47408996A>G g.45989082A>G COL6A1(NM_001848.2):c.805-2A>G - COL6A1_000050 from website {DBsub-Emory}, VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, Tom Winder, VKGL-NL_AMC
+?/. 2 9 c.805G>A r.(?), r.(spl?) p.(Gly269Arg) - likely pathogenic g.47408998G>A g.45989084G>A - - COL6A1_000047 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde, Tom Winder
+/. 1 9 c.805G>C r.(?) p.(Gly269Arg) - pathogenic g.47408998G>C g.45989084G>C - - COL6A1_000149 - PubMed: Butterfield - - Germline ? - - - - Russell Butterfield
+?/. 1 - c.806G>A r.(?) p.(Gly269Glu) - likely pathogenic g.47408999G>A g.45989085G>A - - COL6A1_000387 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 9, 9i c.811C>T r.(?), r.spl? p.(Arg271*) - pathogenic g.47409004C>T g.45989090C>T - - COL6A1_000173 no second variant PubMed: Nallamilli 2018 - - Germline ? - - - - Madhuri Hegde, Alessandra Ferlini
+/., +?/. 4 9 c.815G>A r.(?) p.(Gly272Asp) - likely pathogenic, pathogenic g.47409008G>A g.45989094G>A - - COL6A1_000025 combination of variants not reported, protein domain TH, 1 more item MYO-SEQ project, UK, PubMed: Butterfield, PubMed: Lucioli 2005, PubMed: Topf 2020 - - Germline ? 1/1001 cases - - - Johan den Dunnen, Anne Lampe, Russell Butterfield, Alison Blain
+/. 1 9 c.819_833del r.(?) p.Pro274_Gly278del - pathogenic g.47409012_47409026del g.45989098_45989112del 921-935del - COL6A1_000163 - PubMed: Angelin 2007 - - De novo yes - - - - Alessandra Ferlini
?/. 1 9 c.821C>T r.(?) p.(Pro274Leu) - VUS g.47409014C>T g.45989100C>T - - COL6A1_000005 protein domain TH PubMed: Lampe 2005 - - Germline - - - - - Johan den Dunnen
?/. 1 9 c.822G>A r.(?) p.(=) - VUS g.47409015G>A g.45989101G>A - - COL6A1_000290 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 3 9 c.823G>A r.(?) p.(Gly275Arg) - pathogenic g.47409016G>A g.45989102G>A - - COL6A1_000024 0/200 control chromosomes; protein domain TH PubMed: Butterfield, PubMed: Lucioli 2005 - - Germline ? - Msp I - - Anne Lampe, Russell Butterfield
+/., +?/. 3 9 c.824G>A r.(?) p.(Gly275Glu) - likely pathogenic, likely pathogenic (dominant), pathogenic g.47409017G>A g.45989103G>A - - COL6A1_000145 VKGL data sharing initiative Nederland PubMed: Park 2017 - - CLASSIFICATION record, Germline, Germline/De novo (untested) - 1/209 cases - - - Johan den Dunnen, Tom Winder, VKGL-NL_Nijmegen
+?/. 1 9 c.833G>A r.(?) p.(Gly278Glu) - likely pathogenic g.47409026G>A g.45989112G>A - - COL6A1_000291 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
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