Full data view for gene COL6A3

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_004369.3 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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Effect     

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AscendingDNA change (cDNA)     

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DNA change (genomic) (hg19)     

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+?/. - c.7447A>G r.(?) p.(Lys2483Glu) Both (homozygous) - likely pathogenic g.238253214T>C g.237344571T>C - - COL6A3_000191 The variant is predicted damaging or disease causing in Polyphen, Mutation Taster and FATHMM. Reported pathogenic in ClinVar. Phenotype consistent with COLVI myopathy. Found as a homozygous change. MYO-SEQ project, UK - - Germline ? - - - - DNA SEQ-NG-I blood - BTHLM1A MYO-SEQ Pat17 MYO-SEQ project, UK - M no United Kingdom (Great Britain) - - - - - 1 Alison Blain
+?/. - c.7447A>G r.(?) p.(Lys2483Glu) Both (homozygous) - likely pathogenic g.238253214T>C g.237344571T>C - - COL6A3_000191 The variant is predicted damaging or disease causing in Polyphen, Mutation Taster and FATHMM. It is reported pathogenic/uncertain significance in ClinVar. Homozygous change. Phenotype consistent with COLVI myopathy. MYO-SEQ project, UK - - Unknown ? - - - - DNA SEQ-NG-I blood - BTHLM1A MYO-SEQ Pat19 MYO-SEQ project, UK - M ? United Kingdom (Great Britain) - - - - - 1 Alison Blain
+?/. - c.7447A>G r.(?) p.(Lys2483Glu) Both (homozygous) - likely pathogenic g.238253214T>C g.237344571T>C - - COL6A3_000191 The variant is predicted damaging or disease causing in Polyphen, Mutation Taster and FATHMM. Reported pathogenic in ClinVar. Phenotype consistent with COLVI myopathy. Found as a homozygous change. MYO-SEQ project, UK - - Unknown ? - - - - DNA SEQ-NG-I blood - BTHLM1A MYO-SEQ Pat22 MYO-SEQ project, UK - - no United Kingdom (Great Britain) - - - - - 1 Alison Blain
+?/. - c.7447A>G r.(?) p.(Lys2483Glu) Parent #2 - likely pathogenic g.238253214T>C g.237344571T>C - - COL6A3_000191 The variant is predicted damaging or disease causing in Polyphen, Mutation Taster and FATHMM. It is reported pathogenic/uncertain significance in ClinVar. Phenotype consistent with COLVI myopathy. MYO-SEQ project, UK - - Unknown ? - - - - DNA SEQ-NG-I blood - BTHLM1A MYO-SEQ Pat20 MYO-SEQ project, UK - F ? United Kingdom (Great Britain) - - - - - 1 Alison Blain
?/. - c.7447A>G r.(?) p.(Lys2483Glu) Unknown - VUS g.238253214T>C g.237344571T>C COL6A3(NM_004369.4):c.7447A>G (p.K2483E, p.(Lys2483Glu)) - COL6A3_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7447A>G r.(?) p.(Lys2483Glu) Parent #2 ACMG VUS g.238253214T>C g.237344571T>C - - COL6A3_000191 ACMG grading: PP3; additional variants in FLNC PubMed: Fichna 2018 - - Germline - - - - - DNA SEQ-NG - WES LGMD Pat7;PatB9 PubMed: Fichna 2018, PubMed: Macias 2021 - F - Poland - - - - - 1 Johan den Dunnen
+/. 36 c.7447A>G r.(?) p.(Lys2483Glu) Parent #1 - pathogenic g.238253214T>C g.237344571T>C - - COL6A3_000191 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 36 c.7447A>G r.(?) p.(Lys2483Glu) Parent #1 - VUS g.238253214T>C g.237344571T>C - - COL6A3_000191 no second variant in COL6A3 PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 36 c.7447A>G r.(?) p.(Lys2483Glu) Parent #1 - pathogenic g.238253214T>C g.237344571T>C - - COL6A3_000191 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 36 c.7447A>G r.(?) p.(Lys2483Glu) Parent #1 - pathogenic g.238253214T>C g.237344571T>C - - COL6A3_000191 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+?/. - c.7447A>G r.(?) p.Lys2483Glu Unknown ACMG likely pathogenic g.238253214T>C g.237344571T>C - - COL6A3_000191 ACMG grading: PM2,PM3,PP3,PP5; reported in Brinas 2010. Ann Neurol 68: 511; Hunter 2015. Mol Genet Genomic Med 4: 283-301 - - rs139260335 Germline - - - - - DNA SEQ-NG-S - - - - - - F - - - - - - - 1 Andreas Laner
?/. 36 c.7447A>G r.(?) p.(Lys2483Glu) Both (homozygous) ACMG VUS g.238253214T>C g.237344571T>C - - COL6A3_000191 published in PMID:20576434, 28688748, 30706156, 26247046 - - rs139260335 Germline - - - - - DNA SEQ-NG - - UCMD - - - F - - - - - - - 1 Corinne Metay
+?/. - c.7447A>G r.(?) p.(Lys2483Glu) Unknown - likely pathogenic g.238253214T>C g.237344571T>C - - COL6A3_000191 combination of variants not reported PubMed: Topf 2020 - - Germline - 7/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 7 Johan den Dunnen
?/. - c.7447A>G r.(?) p.(Lys2483Glu) Unknown - VUS g.238253214T>C - COL6A3(NM_004369.4):c.7447A>G (p.K2483E, p.(Lys2483Glu)) - COL6A3_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.7447A>G r.(?) p.(Lys2483Glu) Both (homozygous) - likely pathogenic g.238253214T>C g.237344571T>C - - COL6A3_000191 - PubMed: Gonzalez-Quereda 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 166-gene panel NMD P80 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - - - - 1 Johan den Dunnen
+?/. - c.7447A>G r.(?) p.(Lys2483Glu) Both (homozygous) - likely pathogenic g.238253214T>C g.237344571T>C - - COL6A3_000191 - PubMed: Gonzalez-Quereda 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 166-gene panel NMD P104 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - 1 Johan den Dunnen
?/. - c.7447A>G r.(?) p.(Lys2483Glu) Parent #1 ACMG VUS g.238253214T>C g.237344571T>C - - COL6A3_000191 ACMG PP3 PubMed: Panades de Oliveira 2019 - - Germline - - - - - DNA SEQ-NG - gene panel BTHLM Fam8PatA PubMed: Panades de Oliveira 2019 patient, no family history F - Spain - - - - - 1 Johan den Dunnen
?/. - c.7447A>G r.(?) p.(Lys2483Glu) Both (homozygous) ACMG VUS g.238253214T>C g.237344571T>C - - COL6A3_000191 ACMG PP1/PP3 PubMed: Panades de Oliveira 2019 - - Germline - - - - - DNA SEQ-NG - gene panel BTHLM Fam9PatA PubMed: Panades de Oliveira 2019 family, 2 affected sibs M - Spain - - - - - 2 Johan den Dunnen
?/. - c.7447A>G r.(?) p.(Lys2483Glu) Both (homozygous) ACMG VUS g.238253214T>C g.237344571T>C - - COL6A3_000191 ACMG PP1/PP3 PubMed: Panades de Oliveira 2019 - - Germline - - - - - DNA SEQ-NG - gene panel BTHLM Fam9PatB PubMed: Panades de Oliveira 2019 brother M - Spain - - - - - 1 Johan den Dunnen
?/. - c.7447A>G r.(?) p.(Lys2483Glu) Both (homozygous) ACMG VUS g.238253214T>C g.237344571T>C - - COL6A3_000191 ACMG PP3 PubMed: Panades de Oliveira 2019 - - Germline - - - - - DNA SEQ-NG - gene panel BTHLM Fam11PatA PubMed: Panades de Oliveira 2019 patient, father probable Bethlem disease (deceased, contractures) F - Spain - - - - - 1 Johan den Dunnen
+?/. 36 c.7447A>G r.(?) p.(Lys2483Glu) Parent #2 ACMG likely pathogenic (recessive) g.238253214T>C g.237344571T>C - - COL6A3_000191 ACMG PM3_strong, PP1_mod, PP3 PMID: 26247046, 30706156 ,33749658, 33596003, 32448721, 33749658, 26247046, 30706156, 32403337 PubMed: Morel 2023, Journal: Morel 2023 - - Germline ? - - - - DNA SEQ-NG - - BTHLM F12 PubMed: Morel 2023, Journal: Morel 2023 - M no France - - - - - 1 Victor Morel
+?/. 36 c.7447A>G r.(?) p.(Lys2483Glu) Unknown ACMG likely pathogenic (recessive) g.238253214T>C g.237344571T>C - - COL6A3_000191 ACMG PM3_strong, PP1_mod, PP3; PMID:33749658 PubMed: Morel 2023, Journal: Morel 2023 - - Germline yes - - - - DNA SEQ-NG - - BTHLM F24 PubMed: Morel 2023, Journal: Morel 2023 - M no France - - - - - 2 Victor Morel
+/. - c.7447A>G r.(?) p.(Lys2483Glu) Unknown - pathogenic g.238253214T>C - COL6A3(NM_004369.4):c.7447A>G (p.K2483E, p.(Lys2483Glu)) - COL6A3_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.7447A>G r.(?) p.(Lys2483Glu) Unknown - likely pathogenic g.238253214T>C g.237344571T>C - - COL6A3_000191 - PubMed: Ayala-Ramirez 2025 ClinVar-196977 rs139260335 Germline - - - - - DNA SEQ, SEQ-NG - gene panel MYOP Pat182 PubMed: Ayala-Ramirez 2025 patient M - Colombia - - - - - 1 Johan den Dunnen
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