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.

1485 entries on 15 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     
-/. - c.-320C>G r.(?) p.(=) Unknown - benign g.238322885G>C g.237414242G>C - - COL6A3_000556 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-31+17T>C r.(=) p.(=) Unknown - benign g.238322579A>G g.237413936A>G COL6A3(NM_004369.4):c.-31+17T>C - COL6A3_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-31+17T>C r.(=) p.(=) Unknown - benign g.238322579A>G g.237413936A>G COL6A3(NM_004369.4):c.-31+17T>C - COL6A3_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 19 c.? r.(?) p.? Parent #1 - VUS g.? - 1285G>A (E429K) - COL6A3_000000 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.14G>A r.(?) p.(Arg5Gln) Unknown - VUS g.238305447C>T g.237396804C>T - - COL6A3_000253 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.14G>A r.(?) p.(Arg5Gln) Paternal (confirmed) - VUS g.238305447C>T g.237396804C>T - - COL6A3_000253 no variant 2nd chromosome; present in healthy father PubMed: Westra 2019 - - Germline - - - - - DNA SEQ-NG - WES NMD Pat95 PubMed: Westra 2019 - F - - - - - - - 1 Johan den Dunnen
?/. 2 c.34G>T r.(?) p.(Val12Phe) Parent #1 - VUS g.238305427C>A g.237396784C>A - - COL6A3_000525 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 2 c.74C>A r.(?) p.(Ala25Asp) Unknown - VUS g.238305387G>T g.237396744G>T - - COL6A3_000056 from website {DBsub-Emory} - - - Germline - - - - - DNA SEQ - - ? ? - - - - (United States) - - - - - 1 Madhuri Hegde
-/. - c.92-59T>C r.(=) p.(=) Unknown - benign g.238303906A>G - COL6A3(NM_004369.3):c.92-59T>C - COL6A3_000640 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.107C>T r.(?) p.(Ala36Val) Parent #1 - VUS g.238303832G>A g.237395189G>A - - COL6A3_000524 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.112G>A r.(?) p.(Ala38Thr) Unknown - VUS g.238303827C>T - COL6A3(NM_004369.3):c.112G>A (p.(Ala38Thr)) - COL6A3_000686 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.121_123del r.(?) p.(Ile41del) Parent #1 - VUS g.238303819_238303821del g.237395176_237395178del 121_123delATA - COL6A3_000523 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 3 c.175C>T r.(?) p.(Arg59*) Unknown - pathogenic g.238303764G>A g.237395121G>A - - COL6A3_000057 from website {DBsub-Emory} - - - Germline - - - - - DNA SEQ - - ? ? - - - - (United States) - - - - - 1 Madhuri Hegde
+/. - c.175C>T r.(?) p.(Arg59Ter) Unknown - pathogenic g.238303764G>A g.237395121G>A COL6A3(NM_004369.4):c.175C>T (p.R59*) - COL6A3_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.175C>T r.(?) p.(Arg59*) Parent #1 - likely pathogenic g.238303764G>A g.237395121G>A - - COL6A3_000057 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs398124119 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+?/. - c.175C>T r.(?) p.(Arg59Ter) Unknown - likely pathogenic g.238303764G>A - COL6A3(NM_004369.4):c.175C>T (p.R59*) - COL6A3_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.252C>T r.(?) p.(=) Parent #1 - VUS g.238303687G>A g.237395044G>A - - COL6A3_000522 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 3 c.284C>T r.(?) p.(Thr95Met) Parent #1 - VUS g.238303655G>A g.237395012G>A - - COL6A3_000521 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
-?/. - c.285G>A r.(?) p.(Thr95=) Unknown - likely benign g.238303654C>T g.237395011C>T COL6A3(NM_004369.3):c.285G>A (p.T95=) - COL6A3_000566 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.290G>A r.(?) p.(Arg97His) Parent #1 - VUS g.238303649C>T g.237395006C>T - - COL6A3_000520 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 3 c.290G>A r.(?) p.(Arg97His) Parent #1 - VUS g.238303649C>T g.237395006C>T - - COL6A3_000520 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
-?/. - c.290G>A r.(?) p.(Arg97His) Unknown - likely benign g.238303649C>T - COL6A3(NM_004369.3):c.290G>A (p.(Arg97His)) - COL6A3_000520 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.374T>C r.(?) p.(Ile125Thr) Parent #1 - VUS g.238303565A>G g.237394922A>G - - COL6A3_000519 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 3 c.415G>A r.(?) p.(Gly139Ser) Parent #1 - VUS g.238303524C>T g.237394881C>T - - COL6A3_000518 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 3 c.421G>A r.(?) p.(Gly141Arg) Unknown - VUS g.238303518C>T g.237394875C>T - - COL6A3_000058 from website {DBsub-Emory} - - - Germline - - - - - DNA SEQ - - ? ? - - - - (United States) - - - - - 1 Madhuri Hegde
?/. 3 c.438C>T r.(?) p.(=) Parent #1 - VUS g.238303501G>A g.237394858G>A - - COL6A3_000517 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 3 c.461C>T r.(?) p.(Ser154Leu) Parent #1 - VUS g.238303478G>A g.237394835G>A - - COL6A3_000516 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 3 c.461C>T r.(?) p.(Ser154Leu) Parent #1 - VUS g.238303478G>A g.237394835G>A - - COL6A3_000516 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 3 c.461C>T r.(?) p.(Ser154Leu) Parent #1 - VUS g.238303478G>A g.237394835G>A - - COL6A3_000516 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 3 c.467A>C r.(?) p.(Asp156Ala) Parent #1 - VUS g.238303472T>G g.237394829T>G - - COL6A3_000515 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.467A>G r.(?) p.(Asp156Gly) Unknown - VUS g.238303472T>C - COL6A3(NM_004369.4):c.467A>G (p.D156G) - COL6A3_000639 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.489G>A r.(?) p.(=) Parent #1 - VUS g.238303450C>T g.237394807C>T - - COL6A3_000514 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 3 c.489G>A r.(?) p.(=) Parent #1 - VUS g.238303450C>T g.237394807C>T - - COL6A3_000514 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
-?/. - c.489G>A r.(?) p.(Ala163=) Unknown - likely benign g.238303450C>T - COL6A3(NM_004369.3):c.489G>A (p.A163=) - COL6A3_000514 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.489G>A r.(?) p.(Ala163=) Unknown - likely benign g.238303450C>T - COL6A3(NM_004369.3):c.489G>A (p.A163=) - COL6A3_000514 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.536A>G r.(?) p.(Asp179Gly) Unknown - likely benign g.238303403T>C - COL6A3(NM_004369.3):c.536A>G (p.(Asp179Gly)) - COL6A3_000629 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.550G>A r.(?) p.(Ala184Thr) Parent #1 - VUS g.238303389C>T g.237394746C>T - - COL6A3_000513 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.550G>A r.(?) p.(Ala184Thr) Unknown - VUS g.238303389C>T - COL6A3(NM_004369.4):c.550G>A (p.A184T) - COL6A3_000513 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.575C>T r.(?) p.(Pro192Leu) Parent #1 - VUS g.238303364G>A g.237394721G>A - - COL6A3_000512 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
-?/. - c.625A>G r.(?) p.(Ile209Val) Unknown - likely benign g.238303314T>C - COL6A3(NM_004369.3):c.625A>G (p.I209V) - COL6A3_000628 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.687G>A r.(?) p.(Thr229=) Unknown - likely benign g.238303252C>T g.237394609C>T COL6A3(NM_004369.3):c.687G>A (p.T229=) - COL6A3_000576 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.707C>T r.(?) p.(Thr236Ile) Parent #1 - VUS g.238303232G>A g.237394589G>A - - COL6A3_000511 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 3 c.707C>T r.(?) p.(Thr236Ile) Parent #1 - VUS g.238303232G>A g.237394589G>A - - COL6A3_000511 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.727A>G r.(?) p.(Ile243Val) Unknown - VUS g.238296810T>C - COL6A3(NM_004369.3):c.727A>G (p.I243V) - COL6A3_000603 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 4 c.730A>G r.(?) p.(Ile244Val) Unknown - benign g.238296807T>C g.237388164T>C - - COL6A3_000059 from website {DBsub-Emory} - - - Germline - - - - - DNA SEQ - - ? ? - - - - (United States) - - - - - 1 Madhuri Hegde
+/. 4 c.730A>G r.(?) p.(Ile244Val) Parent #1 - pathogenic g.238296807T>C g.237388164T>C - - COL6A3_000059 - - - - Germline ? - - - - DNA SEQ - - UCMD ? - - - - Italy - - - - - 1 Alessandra Ferlini
?/. - c.730A>G r.(?) p.(Ile244Val) Unknown - VUS g.238296807T>C g.237388164T>C COL6A3(NM_004369.3):c.730A>G (p.I244V, p.(Ile244Val)) - COL6A3_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.730A>G r.(?) p.(Ile244Val) Unknown - likely benign g.238296807T>C g.237388164T>C COL6A3(NM_004369.3):c.730A>G (p.I244V, p.(Ile244Val)) - COL6A3_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.757A>G r.(?) p.(Thr253Ala) Unknown - likely benign g.238296780T>C g.237388137T>C COL6A3(NM_004369.3):c.757A>G (p.(Thr253Ala)) - COL6A3_000565 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.759C>T r.(?) p.(=) Parent #1 - VUS g.238296778G>A g.237388135G>A - - COL6A3_000510 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 4 c.761del r.(?) p.(Gly254Glufs*13) Parent #1 - pathogenic g.238296777del g.237388134del 761delG - COL6A3_000509 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 4 c.761del r.(?) p.(Gly254Glufs*13) Parent #1 - pathogenic g.238296777del g.237388134del 761delG - COL6A3_000509 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. - c.761del r.(?) p.(Gly254Glufs*13) Unknown - pathogenic g.238296777del - COL6A3(NM_004369.4):c.761del (p.(Gly254GlufsTer13)), COL6A3(NM_004369.4):c.761delG (p.G254Efs*13) - COL6A3_000509 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.761del r.(?) p.(Gly254Glufs*13) Unknown - likely pathogenic g.238296777del - COL6A3(NM_004369.4):c.761del (p.(Gly254GlufsTer13)), COL6A3(NM_004369.4):c.761delG (p.G254Efs*13) - COL6A3_000509 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.761del r.(?) p.(Gly254Glufs*13) Unknown - pathogenic g.238296777del - COL6A3(NM_004369.4):c.761del (p.(Gly254GlufsTer13)), COL6A3(NM_004369.4):c.761delG (p.G254Efs*13) - COL6A3_000509 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.768C>T r.(?) p.(=) Unknown - VUS g.238296769G>A g.237388126G>A - - COL6A3_000060 from website {DBsub-Emory} - - - Germline - - - - - DNA SEQ - - ? ? - - - - (United States) - - - - - 1 Madhuri Hegde
-/. - c.768C>T r.(?) p.(Val256=) Unknown - benign g.238296769G>A g.237388126G>A COL6A3(NM_004369.3):c.768C>T (p.(Val256=)), COL6A3(NM_004369.4):c.768C>T (p.V256=) - COL6A3_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.768C>T r.(?) p.(Val256=) Unknown - benign g.238296769G>A g.237388126G>A COL6A3(NM_004369.3):c.768C>T (p.(Val256=)), COL6A3(NM_004369.4):c.768C>T (p.V256=) - COL6A3_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.768C>T r.(=) p.(=) Parent #1 - likely benign g.238296769G>A g.237388126G>A - - COL6A3_000060 172 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs79606264 Germline - 172/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 172 Mohammed Faruq
-?/. - c.768C>T r.(=) p.(=) Both (homozygous) - likely benign g.238296769G>A g.237388126G>A - - COL6A3_000060 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs79606264 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-/. - c.768C>T r.(?) p.(Val256=) Unknown - benign g.238296769G>A - COL6A3(NM_004369.3):c.768C>T (p.(Val256=)), COL6A3(NM_004369.4):c.768C>T (p.V256=) - COL6A3_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.775G>A r.(?) p.(Ala259Thr) Unknown - likely benign g.238296762C>T - COL6A3(NM_004369.3):c.775G>A (p.A259T) - COL6A3_000627 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.776C>T r.(?) p.(Ala259Val) Unknown - VUS g.238296761G>A g.237388118G>A COL6A3(NM_004369.3):c.776C>T (p.(Ala259Val)) - COL6A3_000237 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.776C>T r.(?) p.(Ala259Val) Parent #1 - VUS g.238296761G>A g.237388118G>A - - COL6A3_000237 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 4 c.776C>T r.(?) p.(Ala259Val) Parent #1 - VUS g.238296761G>A g.237388118G>A - - COL6A3_000237 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
-/. - c.786C>T r.(?) p.(Leu262=) Unknown - benign g.238296751G>A g.237388108G>A COL6A3(NM_004369.3):c.786C>T (p.L262=) - COL6A3_000252 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.786C>T r.(?) p.(Leu262=) Unknown - likely benign g.238296751G>A - COL6A3(NM_004369.3):c.786C>T (p.L262=) - COL6A3_000252 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.802C>T r.(?) p.(Leu268Phe) Parent #1 - VUS g.238296735G>A g.237388092G>A - - COL6A3_000508 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 4 c.802C>T r.(?) p.(Leu268Phe) Parent #1 - VUS g.238296735G>A g.237388092G>A - - COL6A3_000508 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 4 c.802C>T r.(?) p.(Leu268Phe) Parent #1 - VUS g.238296735G>A g.237388092G>A - - COL6A3_000508 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.821T>A r.(?) p.(Ile274Asn) Unknown - VUS g.238296716A>T - COL6A3(NM_004369.3):c.821T>A (p.I274N, p.(Ile274Asn)) - COL6A3_000602 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.821T>A r.(?) p.(Ile274Asn) Unknown - VUS g.238296716A>T - COL6A3(NM_004369.3):c.821T>A (p.I274N, p.(Ile274Asn)) - COL6A3_000602 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.839G>T r.(?) p.(Arg280Leu) Parent #1 - VUS g.238296698C>A g.237388055C>A - - COL6A3_000507 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 4 c.861C>T r.(?) p.(=) Parent #1 - VUS g.238296676G>A g.237388033G>A - - COL6A3_000506 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
-/. 4 c.882C>T r.(?) p.(=) Unknown - benign g.238296655G>A g.237388012G>A - - COL6A3_000061 from website {DBsub-Emory} - - - Germline - - - - - DNA SEQ - - ? ? - - - - (United States) - - - - - 1 Madhuri Hegde
?/. 6 c.882C>T r.(?) p.(=) Unknown - VUS g.238296655G>A g.237388012G>A - - COL6A3_000061 - - - - Germline ? - - - - DNA SEQ - - BTHLM1A ? - - - - Italy - - - - - 1 Alessandra Ferlini
-/. - c.882C>T r.(?) p.(Phe294=) Unknown - benign g.238296655G>A g.237388012G>A COL6A3(NM_004369.3):c.882C>T (p.(Phe294=)) - COL6A3_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.882C>T r.(?) p.(Phe294=) Unknown - likely benign g.238296655G>A - COL6A3(NM_004369.3):c.882C>T (p.(Phe294=)) - COL6A3_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.888G>C r.(?) p.(Leu296Phe) Unknown - VUS g.238296649C>G - COL6A3(NM_004369.3):c.888G>C (p.L296F, p.(Leu296Phe)) - COL6A3_000601 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.888G>C r.(?) p.(Leu296Phe) Unknown - VUS g.238296649C>G - COL6A3(NM_004369.3):c.888G>C (p.L296F, p.(Leu296Phe)) - COL6A3_000601 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.893C>T r.(?) p.(Thr298Ile) Parent #1 - VUS g.238296644G>A g.237388001G>A - - COL6A3_000505 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 4 c.898_900del r.(?) p.(Ser300del) Parent #1 - VUS g.238296638_238296640del g.237387995_237387997del 898_900delTCC - COL6A3_000504 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 4 c.898_900del r.(?) p.(Ser300del) Parent #1 - VUS g.238296638_238296640del g.237387995_237387997del 898_900delTCC - COL6A3_000504 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 4 c.898_900del r.(?) p.(Ser300del) Parent #1 - VUS g.238296638_238296640del g.237387995_237387997del 898_900delTCC - COL6A3_000504 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 4 c.898_900del r.(?) p.(Ser300del) Parent #1 - VUS g.238296638_238296640del g.237387995_237387997del 898_900delTCC - COL6A3_000504 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.898_900del r.(?) p.(Ser300del) Unknown - VUS g.238296638_238296640del - COL6A3(NM_004369.4):c.898_900del (p.(Ser300del)) - COL6A3_000504 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.902_904del r.(?) p.(Thr301del) Unknown - VUS g.238296636_238296638del - COL6A3(NM_004369.3):c.902_904delCCA (p.(Thr301del)) - COL6A3_000685 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.936C>T r.(?) p.(Leu312=) Unknown - likely benign g.238296601G>A - COL6A3(NM_004369.3):c.936C>T (p.L312=) - COL6A3_000583 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1006C>T r.(?) p.(Arg336Trp) Unknown - likely pathogenic g.238296531G>A g.237387888G>A - - COL6A3_000194 The variant is rare and predicted damaging or disease causing in Polyphen, Mutation Taster and FATHMM. MYO-SEQ project, UK - - Germline - - - - - DNA SEQ-NG-I blood - BTHLM1A MYO-SEQ Pat34 MYO-SEQ project, UK - F no United Kingdom (Great Britain) - - - - - 1 Alison Blain
?/. 4 c.1006C>T r.(?) p.(Arg336Trp) Parent #1 - VUS g.238296531G>A g.237387888G>A - - COL6A3_000194 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 4 c.1007G>A r.(?) p.(Arg336Gln) Parent #1 - VUS g.238296530C>T g.237387887C>T - - COL6A3_000503 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 4 c.1022G>A r.(?) p.(Arg341His) Parent #1 - VUS g.238296515C>T g.237387872C>T - - COL6A3_000501 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 4 c.1022G>T r.(?) p.(Arg341Leu) Parent #1 - VUS g.238296515C>A g.237387872C>A - - COL6A3_000502 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 4 c.1024G>A r.(?) p.(Val342Met) Parent #1 - VUS g.238296513C>T g.237387870C>T - - COL6A3_000500 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.1024G>A r.(?) p.(Val342Met) Unknown - VUS g.238296513C>T g.237387870C>T COL6A3(NM_004369.3):c.1024G>A (p.V342M), COL6A3(NM_004369.4):c.1024G>A (p.V342M) - COL6A3_000500 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1024G>A r.(?) p.(Val342Met) Unknown - VUS g.238296513C>T - COL6A3(NM_004369.3):c.1024G>A (p.V342M), COL6A3(NM_004369.4):c.1024G>A (p.V342M) - COL6A3_000500 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1024G>A r.(?) p.(Val342Met) Unknown - likely benign g.238296513C>T - COL6A3(NM_004369.3):c.1024G>A (p.V342M), COL6A3(NM_004369.4):c.1024G>A (p.V342M) - COL6A3_000500 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.1045G>T r.(?) p.(Val349Leu) Parent #1 - VUS g.238296492C>A g.237387849C>A - - COL6A3_000499 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
-?/. - c.1065C>T r.(?) p.(Ala355=) Unknown - likely benign g.238296472G>A g.237387829G>A - - COL6A3_000251 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1087C>T r.(?) p.(Arg363Cys) Unknown - VUS g.238296450G>A - COL6A3(NM_004369.4):c.1087C>T (p.(Arg363Cys)) - COL6A3_000659 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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