Full data view for gene COL6A1

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.

968 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     
-/. 1 c.-5C>G r.(?) p.(=) Unknown - benign g.47401760C>G g.45981846C>G - - COL6A1_000054 from website {DBsub-Emory} - - - Germline - - - 0 - DNA SEQ - - ? ? - - - - (United States) - - 0 - - 1 Madhuri Hegde
-/. - c.-5C>G r.(?) p.(=) Unknown - benign g.47401760C>G g.45981846C>G COL6A1(NM_001848.2):c.-5C>G - COL6A1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-5C>G r.(?) p.(=) Unknown - benign g.47401760C>G g.45981846C>G COL6A1(NM_001848.2):c.-5C>G - COL6A1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-5C>G r.(?) p.(=) Unknown - benign g.47401760C>G g.45981846C>G COL6A1(NM_001848.2):c.-5C>G - COL6A1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 5' UTR c.-1C>T r.(?) p.(=) Parent #1 - VUS g.47401764C>T g.45981850C>T - - COL6A1_000257 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
?/. 5' UTR c.-1C>T r.(?) p.(=) Parent #1 - VUS g.47401764C>T g.45981850C>T - - COL6A1_000257 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_35_ 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_35_ 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
?/. 3 c.? r.(?) p.? Parent #1 - VUS g.? - 139G>A (V47M) - COL6A1_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
?/. 5i c.? r.(?) p.(?) Parent #1 - VUS g.? - c.717+4A - COL6A1_000000 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 36 c.? r.(?) p.? Parent #1 - VUS g.? - 7342G>T (V2448F) - COL6A1_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 c.74C>A r.(?) p.(Thr25Asn) Parent #1 - VUS g.47401838C>A g.45981924C>A - - COL6A1_000258 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 1i c.98-3C>G r.spl p.? Parent #1 - VUS g.47402545C>G g.45982631C>G - - COL6A1_000259 - 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.98-3C>G r.spl? p.? Unknown - VUS g.47402545C>G - COL6A1(NM_001848.2):c.98-3C>G - COL6A1_000259 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.98-2A>G r.spl? p.? Unknown - pathogenic g.47402546A>G g.45982632A>G - - COL6A1_000229 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1i_2 c.98-2_103del r.spl p.? Parent #1 - pathogenic g.47402546_47402553del g.45982632_45982639del 98-2_103delAGACTGC - COL6A1_000260 - 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.105C>G r.(?) p.(=) Unknown - VUS g.47402555C>G g.45982641C>G - - COL6A1_000055 from website {DBsub-Emory} - - - Germline - - - 0 - DNA SEQ - - ? ? - - - - (United States) - - 0 - - 1 Madhuri Hegde
-?/. - c.105C>G r.(?) p.(Pro35=) Unknown - likely benign g.47402555C>G g.45982641C>G COL6A1(NM_001848.2):c.105C>G (p.P35=) - COL6A1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.105C>G r.(?) p.(Pro35=) Unknown - likely benign g.47402555C>G - COL6A1(NM_001848.2):c.105C>G (p.P35=) - COL6A1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.128A>C r.(?) p.(Asp43Ala) Both (homozygous) - pathogenic (recessive) g.47402578A>C g.45982664A>C - - COL6A1_000256 - PubMed: Saha 2018, Journal: Saha 2018 - rs786205555 Germline yes - - 0 - DNA SEQ, SEQ-NG - WES LGMD 30345904-Fam1306 PubMed: Saha 2018, Journal: Saha 2018 2-generation family, affected, brothers unaffected heterozygous carrier parents/relatives M yes (Saudi Arabia);(Sudan) - - 0 - - 2 Johan den Dunnen
?/. 2 c.138G>C r.(?) p.(Glu46Asp) Parent #1 - VUS g.47402588G>C g.45982674G>C - - COL6A1_000261 - 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.170C>A r.(?) p.(Ala57Asp) Parent #1 - VUS g.47402620C>A g.45982706C>A - - COL6A1_000262 - 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.170C>A r.(?) p.(Ala57Asp) Parent #1 - VUS g.47402620C>A g.45982706C>A - - COL6A1_000262 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.170C>A r.(?) p.(Ala57Asp) Parent #1 - VUS g.47402620C>A g.45982706C>A - - COL6A1_000262 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.170C>A r.(?) p.(Ala57Asp) Parent #1 - VUS g.47402620C>A g.45982706C>A - - COL6A1_000262 - 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.170C>A r.(?) p.(Ala57Asp) Parent #1 - VUS g.47402620C>A g.45982706C>A - - COL6A1_000262 - 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.170C>A r.(?) p.(Ala57Asp) Parent #1 - VUS g.47402620C>A g.45982706C>A - - COL6A1_000262 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.170C>A r.(?) p.(Ala57Asp) Parent #1 - VUS g.47402620C>A g.45982706C>A - - COL6A1_000262 - 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.170C>A r.(?) p.(Ala57Asp) Parent #1 - VUS g.47402620C>A g.45982706C>A - - COL6A1_000262 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.170C>A r.(?) p.(Ala57Asp) Parent #1 - VUS g.47402620C>A g.45982706C>A - - COL6A1_000262 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.170C>A r.(?) p.(Ala57Asp) Parent #1 - VUS g.47402620C>A g.45982706C>A - - COL6A1_000262 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.170C>A r.(?) p.(Ala57Asp) Parent #1 - VUS g.47402620C>A g.45982706C>A - - COL6A1_000262 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.170C>A r.(?) p.(Ala57Asp) Unknown - VUS g.47402620C>A - COL6A1(NM_001848.2):c.170C>A (p.A57D) - COL6A1_000262 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.202C>T r.(?) p.(Arg68Cys) Unknown - VUS g.47402652C>T g.45982738C>T - - COL6A1_000155 - PubMed: Butterfield - - Germline ? - - 0 - DNA PCR, SEQ - - ? Gly_18 PubMed: Butterfield - - - (United States) - - 0 - - 1 Russell Butterfield
?/. 2 c.202C>T r.(?) p.(Arg68Cys) Parent #1 - VUS g.47402652C>T g.45982738C>T - - COL6A1_000155 - 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.202C>T r.(?) p.(Arg68Cys) Parent #1 - VUS g.47402652C>T g.45982738C>T - - COL6A1_000155 no second variant in COL6A1 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.202C>T r.(?) p.(Arg68Cys) Parent #1 - VUS g.47402652C>T g.45982738C>T - - COL6A1_000155 - 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.202C>T r.(?) p.(Arg68Cys) Parent #1 - VUS g.47402652C>T g.45982738C>T - - COL6A1_000155 - 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.202C>T r.(?) p.(Arg68Cys) Parent #1 - VUS g.47402652C>T g.45982738C>T - - COL6A1_000155 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.225C>T r.spl p.? Unknown - VUS g.47402675C>T g.45982761C>T - - COL6A1_000424 - PubMed: Ganapathy 2019 - - Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? S-2298 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
?/. 2 c.226A>C r.(?) p.(=) Parent #1 - VUS g.47402676A>C g.45982762A>C - - COL6A1_000263 - 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.235C>T r.(?) p.(Arg79Cys) Paternal (confirmed) - benign g.47404190C>T g.45984276C>T - - COL6A1_000036 - - - - De novo - - - 0 - DNA SEQ - - BTHLM-1 ? - - M - United States - - 0 - - 1 Tom Winder
?/. 3 c.247A>G r.(?) p.(Asn83Asp) Parent #1 - VUS g.47404202A>G g.45984288A>G - - COL6A1_000264 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.262G>A r.(?) p.(Ala88Thr) Unknown - VUS g.47404217G>A g.45984303G>A - - COL6A1_000425 - PubMed: Ganapathy 2019 - rs540429266 Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? S-4133 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
?/. 3 c.285C>G r.(?) p.(Asp95Glu) Parent #1 - VUS g.47404240C>G g.45984326C>G - - COL6A1_000265 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.297del r.(?) p.(Ile100SerfsTer48) Both (homozygous) - likely pathogenic g.47404252del g.45984338del - - COL6A1_000426 - PubMed: Ganapathy 2019 - - Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? S-3912 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
?/. 3 c.311C>T r.(?) p.(Thr104Met) Parent #1 - VUS g.47404266C>T g.45984352C>T - - COL6A1_000266 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.324C>T r.(?) p.(=) Parent #1 - VUS g.47404279C>T g.45984365C>T - - COL6A1_000267 - 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.324C>T r.(?) p.(=) Parent #1 - VUS g.47404279C>T g.45984365C>T - - COL6A1_000267 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.325G>A r.(?) p.(Gly109Ser) Parent #1 - VUS g.47404280G>A g.45984366G>A - - COL6A1_000268 - 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.325G>A r.(?) p.(Gly109Ser) Parent #1 - VUS g.47404280G>A g.45984366G>A - - COL6A1_000268 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.344G>C r.(?) p.(Ser115Thr) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 3 c.347G>A r.(?) p.(Ser116Asn) Parent #1 - benign g.47404302G>A g.45984388G>A - - COL6A1_000001 - - - rs11553519 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
+?/. 3 c.347G>A r.(?) p.(Ser116Asn) Parent #1 - likely pathogenic g.47404302G>A g.45984388G>A - - COL6A1_000001 no confirmatory data; protein domain N1 PubMed: Lampe 2005 - - Germline - 3/54 cases - 0 - DNA SEQ - - BTHLM-1 ? PubMed: Lampe 2005 - - - - - - 0 - - 3 Johan den Dunnen
-/. 3 c.347G>A r.347g>a p.(Ser116Asn) Unknown - benign g.47404302G>A g.45984388G>A G347A - COL6A1_000001 - PubMed: Giusti 2005 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ, DHPLC - - UCMD P5 PubMed: Giusti 2005 - - - Belgium - - 0 - - 1 Anne Lampe
-/. 3 c.347G>A r.(?) p.(Ser116Asn) Unknown - benign g.47404302G>A g.45984388G>A - - COL6A1_000001 from website {DBsub-Emory} - - - Germline - - - 0 - DNA SEQ - - ? ? - - - - (United States) - - 0 - - 1 Madhuri Hegde
-/. - c.347G>A r.(?) p.(Ser116Asn) Unknown - benign g.47404302G>A g.45984388G>A COL6A1(NM_001848.2):c.347G>A (p.S116N) - COL6A1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.347G>A r.(?) p.(Ser116Asn) Unknown - benign g.47404302G>A g.45984388G>A COL6A1(NM_001848.2):c.347G>A (p.S116N) - COL6A1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.347G>A r.(?) p.(Ser116Asn) Unknown - benign g.47404302G>A g.45984388G>A COL6A1(NM_001848.2):c.347G>A (p.S116N) - COL6A1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.347G>A r.(?) p.(Ser116Asn) Unknown - benign g.47404302G>A g.45984388G>A COL6A1(NM_001848.2):c.347G>A (p.S116N) - COL6A1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 3 c.349G>A r.(?) p.(Val117Met) Parent #1 - VUS g.47404304G>A g.45984390G>A 7 - COL6A1_000147 - PubMed: Butterfield - - De novo yes - - 0 - DNA PCR, SEQ - - Healthy/Control Gly_7m PubMed: Butterfield unaffacted mother patient Gly_7 F - (United States) - - 0 - - 1 Russell Butterfield
?/. 3 c.349G>A r.(?) p.(Val117Met) Maternal (confirmed) - VUS g.47404304G>A g.45984390G>A - - COL6A1_000147 unaffected mother carries this allele PubMed: Butterfield - - De novo yes - - 0 - DNA PCR, SEQ - - BTHLM-1 Gly_7 PubMed: Butterfield - F - (United States) - - 0 - - 1 Russell Butterfield
?/. 3 c.350T>C r.(?) p.(Val117Ala) Unknown - VUS g.47404305T>C g.45984391T>C - - COL6A1_000056 from website {DBsub-Emory} - - - Germline - - - 0 - DNA SEQ - - ? ? - - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 3 c.350T>C r.350u>c p.Val117Ala Paternal (confirmed) - pathogenic g.47404305T>C g.45984391T>C - - COL6A1_000056 0/200 control chromosomes; no skipping exon3 - - - Germline yes - - 0 - DNA, RNA RT-PCR, SEQ - - UCMD ? - - - - Italy - - 0 - - 1 Alessandra Ferlini
?/. 3 c.350T>C r.(?) p.(Val117Ala) Parent #1 - VUS g.47404305T>C g.45984391T>C - - COL6A1_000056 - 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.350T>C r.(?) p.(Val117Ala) Parent #1 - VUS g.47404305T>C g.45984391T>C - - COL6A1_000056 - 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.350T>C r.(?) p.(Val117Ala) Parent #1 - VUS g.47404305T>C g.45984391T>C - - COL6A1_000056 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.350T>C r.(?) p.(Val117Ala) Parent #1 - VUS g.47404305T>C g.45984391T>C - - COL6A1_000056 - 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.350T>C r.(?) p.(Val117Ala) Parent #1 - VUS g.47404305T>C g.45984391T>C - - COL6A1_000056 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.350T>C r.(?) p.(Val117Ala) Parent #1 - VUS g.47404305T>C g.45984391T>C - - COL6A1_000056 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.350T>C r.(?) p.(Val117Ala) Parent #1 - VUS g.47404305T>C g.45984391T>C - - COL6A1_000056 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.350T>C r.(?) p.(Val117Ala) Parent #1 - VUS g.47404305T>C g.45984391T>C - - COL6A1_000056 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.357G>A r.(?) p.(=) Parent #1 - VUS g.47404312G>A g.45984398G>A - - COL6A1_000269 - 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.362A>G r.(?) p.(Lys121Arg) Parent #1 - pathogenic g.47404317A>G g.45984403A>G - - COL6A1_000002 0/190 control chromosomes; protein domain N1 PubMed: Scacheri 2002, OMIM:var0005 - - Germline - - - 0 - DNA SSCA, SEQ - - LGMD-1 ? PubMed: Scacheri 2002 large 4 generation family - - United States Caucasian - 0 - - 1 Johan den Dunnen
+/. 3 c.362A>G r.(?) p.(Lys121Arg) Unknown - pathogenic g.47404317A>G g.45984403A>G - - COL6A1_000002 from website {DBsub-Emory} - - - Germline - - - 0 - DNA SEQ - - ? ? - - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 3 c.362A>G r.(?) p.(Lys121Arg) Parent #1 - pathogenic g.47404317A>G g.45984403A>G - - COL6A1_000002 - - - - Germline yes - - 0 - DNA SEQ - - LGMD ? - - - - Italy - - 0 - - 1 Alessandra Ferlini
+/. 3 c.362A>G r.(?) p.(Lys121Arg) Paternal (inferred) - pathogenic g.47404317A>G g.45984403A>G - - COL6A1_000002 - - - - Germline - - - 0 - DNA, protein arrayCGH, SEQ saliva - BTHLM - - - M no United States Italian;American-Indian 46y 0 - - 1 Payam Soltanzadeh
+/. - c.362A>G r.(?) p.(Lys121Arg) Unknown - pathogenic g.47404317A>G g.45984403A>G COL6A1(NM_001848.2):c.362A>G (p.K121R) - COL6A1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.362A>G r.(?) p.(Lys121Arg) Parent #1 - pathogenic g.47404317A>G g.45984403A>G - - COL6A1_000002 - 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.362A>G r.(?) p.(Lys121Arg) Parent #1 - pathogenic g.47404317A>G g.45984403A>G - - COL6A1_000002 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.376G>A r.(?) p.(Gly126Ser) Parent #1 - VUS g.47404331G>A g.45984417G>A - - COL6A1_000270 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.379A>G r.(?) p.(Thr127Ala) Parent #1 - VUS g.47404334A>G g.45984420A>G - - COL6A1_000271 - 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.381C>T r.(?) p.(Thr127=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.409C>G r.(?) p.(Leu137Val) Parent #1 - VUS g.47404364C>G g.45984450C>G - - COL6A1_000272 - 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.424G>A r.424g>A p.Val142Met Maternal (confirmed) - pathogenic g.47404379G>A g.45984465G>A - - COL6A1_000167 - - - - Germline yes - - 0 - DNA SEQ - - BTHLM-1 ? - - - - Italy - - 0 - - 1 Alessandra Ferlini
?/. 3 c.424G>C r.(?) p.(Val142Leu) Parent #1 - VUS g.47404379G>C g.45984465G>C - - COL6A1_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
+/. 3i c.428+1G>A r.363_428del p.Tyr122_Gly143del Parent #1 - pathogenic g.47404384G>A g.45984470G>A IVS3+1G>A - COL6A1_000003 0/100 control chromosomes; protein domain N1 PubMed: Vanegas 2002, OMIM:var0008 - - Germline - - HphI 0 - DNA, RNA RT-PCR, HD, SEQ - - BTHLM-1 ? PubMed: Vanegas 2002 4 generation family - - Italy - - 0 - - 1 Johan den Dunnen
+/. 3i c.428+1G>A r.363_428del p.Tyr122_Gly143del Parent #1 - pathogenic g.47404384G>A g.45984470G>A - - COL6A1_000003 protein domain N1 PubMed: Lucioli 2005 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - BTHLM-1 P1 PubMed: Lucioli 2005 - - - - - - 0 - - 1 Anne Lampe
+/. 3i c.428+1G>A r.363_428del p.Tyr122_Gly143del Parent #1 - pathogenic g.47404384G>A g.45984470G>A - - COL6A1_000003 protein domain N1 PubMed: Lucioli 2005 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - BTHLM-1 P2 PubMed: Lucioli 2005 - - - - - - 0 - - 1 Anne Lampe
+/. 3i c.428+1G>A r.363_428del p.Tyr122_Gly143del Parent #1 - pathogenic g.47404384G>A g.45984470G>A - - COL6A1_000003 protein domain N1 PubMed: Lucioli 2005 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - BTHLM-1 P3 PubMed: Lucioli 2005 - - - - - - 0 - - 1 Anne Lampe
+/. 3i c.428+1G>A r.spl p.? Parent #1 - pathogenic g.47404384G>A g.45984470G>A - - COL6A1_000003 - - - - Germline ? - - 0 - DNA SEQ - - BTHLM-1 ? - - - - Italy - - 0 - - 1 Alessandra Ferlini
+/. - c.428+1G>A r.spl? p.? Unknown - pathogenic g.47404384G>A - COL6A1(NM_001848.2):c.428+1G>A - COL6A1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.428+1G>T r.spl p.? Parent #1 - likely pathogenic (dominant) g.47404384G>T g.45984470G>T - - COL6A1_000408 - PubMed: Park 2017 - - Germline - 1/209 cases - 0 - DNA SEQ, SEQ-NG - 69-gene panel muscular disorder MD Pat18 PubMed: Park 2017 - M - Korea - - 0 - - 1 Johan den Dunnen
+/. - c.428+2T>G r.spl? p.? Unknown - pathogenic g.47404385T>G g.45984471T>G - - COL6A1_000230 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 3i c.428+14A>G r.(=) p.(=) Parent #1 - benign g.47404397A>G g.45984483A>G - - COL6A1_000057 - - - rs3746993 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. 3i c.428+14A>G r.(?) p.(=) Unknown - benign g.47404397A>G g.45984483A>G - - COL6A1_000057 from website {DBsub-Emory} - - - Germline - - - 0 - DNA SEQ - - ? ? - - - - (United States) - - 0 - - 1 Madhuri Hegde
-/. - c.428+14A>G r.(=) p.(=) Unknown - benign g.47404397A>G g.45984483A>G COL6A1(NM_001848.2):c.428+14A>G - COL6A1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.428+14A>G r.(=) p.(=) Unknown - benign g.47404397A>G g.45984483A>G COL6A1(NM_001848.2):c.428+14A>G - COL6A1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.428+14A>G r.(=) p.(=) Unknown - benign g.47404397A>G g.45984483A>G COL6A1(NM_001848.2):c.428+14A>G - COL6A1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 3i c.428+39C>G r.(?) p.(=) Unknown - benign g.47404422C>G g.45984508C>G - - COL6A1_000058 from website {DBsub-Emory} - - - Germline - - - 0 - DNA SEQ - - ? ? - - - - (United States) - - 0 - - 1 Madhuri Hegde
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