Full data view for gene DNAJB6

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_058246.3 transcript reference sequence.

148 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

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.-26-12T>G r.(=) p.(=) Unknown - likely benign g.157151229T>G g.157358535T>G DNAJB6(NM_005494.2):c.-26-12T>G (p.(=)) - DNAJB6_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5' UTR c.-7G>A r.(?) p.(=) Parent #1 - VUS g.157151260G>A g.157358566G>A - - DNAJB6_000018 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 5 c.? - p.Phe93Ala Unknown - NA g.? - - - DNAJB6_000000 mRNA infection expression in zebrafish embryos; loss of function from DNAJB6b PubMed: Sarparanta 2012 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.? - p.Phe93Gly Unknown - NA g.? - - - DNAJB6_000000 mRNA infection expression in zebrafish embryos; loss of function from DNAJB6b PubMed: Sarparanta 2012 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 5 c.? - p.Phe89Gly Unknown - NA g.? - - - DNAJB6_000000 mRNA infection expression in zebrafish embryos; no effect PubMed: Sarparanta 2012 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.64G>A r.(?) p.(Ala22Thr) Parent #1 - VUS g.157151330G>A g.157358636G>A - - DNAJB6_000019 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.140A>G r.(?) p.(Lys47Arg) Unknown - VUS g.157155929A>G g.157363235A>G DNAJB6(NM_058246.3):c.140A>G (p.(Lys47Arg)) - DNAJB6_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.149C>T r.(?) p.(Ala50Val) Parent #1 - VUS g.157155938C>T g.157363244C>T - - DNAJB6_000020 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.175+3G>A r.spl? p.? Unknown - likely benign g.157155967G>A - DNAJB6(NM_058246.3):c.175+3G>A - DNAJB6_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.176-20A>G r.(=) p.(=) Unknown - benign g.157159176A>G g.157366482A>G DNAJB6(NM_005494.2):c.176-20A>G (p.(=)), DNAJB6(NM_058246.4):c.176-20A>G - DNAJB6_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.176-20A>G r.(=) p.(=) Unknown - likely benign g.157159176A>G g.157366482A>G DNAJB6(NM_005494.2):c.176-20A>G (p.(=)), DNAJB6(NM_058246.4):c.176-20A>G - DNAJB6_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.184C>T r.(?) p.(Arg62Trp) Parent #1 - VUS g.157159204C>T g.157366510C>T - - DNAJB6_000021 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - F - (United States) - - - - - 1 Madhuri Hegde
+?/. - c.230G>A r.(?) p.(Gly77Glu) Parent #1 ACMG likely pathogenic g.157159250G>A g.157366556G>A - - DNAJB6_000015 ACMG grading: PS2, PP2, PP3; additional variants in COL6A2, DAG1, DYSF, ISPD, NEB, RYR1, SYNE1, CHRNE, TTN x3 PubMed: Fichna 2018 - - Germline - - - - - DNA SEQ-NG - WES LGMD Pat275B PubMed: Fichna 2018 - M - Poland - - - - - 1 Johan den Dunnen
?/. 4 c.230G>T r.(?) p.(Gly77Val) Parent #1 - VUS g.157159250G>T g.157366556G>T - - DNAJB6_000022 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 5 c.265T>A r.(?) p.(Phe89Ile) Unknown - pathogenic (dominant) g.157160096T>A g.157367402T>A - - DNAJB6_000002 - - - - Germline - - - - - DNA PCR, SEQ - - LGMD - - - M - United States - - - - - 1 Tom Winder
+/. 5 c.265T>A r.267u>a p.Phe89Ile Parent #1 - pathogenic (dominant) g.157160096T>A g.157367402T>A 267T>A - DNAJB6_000002 mapped by linkage; not in 430 control chromosomes; segregates; variant 267T>A error (see FigS2c) PubMed: Sarparanta 2012 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD1 - PubMed: Speer 1995, PubMed: Speer 1999 6-generation family, 19 affecteds, 1 unaffected young carrier - - United States - - - - - 11 Johan den Dunnen
+/. 5 c.265T>A r.267u>a p.Phe89Ile Parent #1 - pathogenic (dominant) g.157160096T>A g.157367402T>A - - DNAJB6_000002 mapped by linkage; not in 430 control chromosomes; segregates PubMed: Sarparanta 2012 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD1 - PubMed: Speer 1995, PubMed: Speer 1999 7-generation family, 33 affecteds, 1 unaffected young carrier - - United States - - - - - 20 Johan den Dunnen
+/. 5 c.265T>A r.(?) p.(Phe89Ile) Unknown - pathogenic (dominant) g.157160096T>A g.157367402T>A - - DNAJB6_000002 - - - - Germline - - - - - DNA PCR, SEQ - - LGMD1 - - - F - United States - - - - - 1 Tom Winder
+/. 5 c.265T>A r.267u>a p.Phe89Ile Unknown - NA g.157160096T>A g.157367402T>A 267T>A - DNAJB6_000002 293FT cell expression increased DNAJB6 half-life (increased effect p.= co-expressed) PubMed: Sarparanta 2012 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 5 c.265T>A r.267u>a p.Phe89Ile Unknown - NA g.157160096T>A g.157367402T>A 267T>A - DNAJB6_000002 COS-1 cell expression, no effect on BAG3, HSPB8 and STUB1 co-IP PubMed: Sarparanta 2012 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.265T>A r.267u>a p.Phe89Ile Unknown - NA g.157160096T>A g.157367402T>A 267T>A - DNAJB6_000002 expression cloning with pEGFP/HD-120Q significantly impaired anti-aggregation function PubMed: Sarparanta 2012 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.265T>A r.267u>a p.Phe89Ile Unknown - NA g.157160096T>A g.157367402T>A 267T>A - DNAJB6_000002 mRNA infection expression in zebrafish embryos; loss of function from DNAJB6b (not DNAJB6a), effect more severe when p.= coinjected PubMed: Sarparanta 2012 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.265T>A r.(?) p.(Phe89Ile) Parent #1 - pathogenic g.157160096T>A g.157367402T>A - - DNAJB6_000002 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 5 c.265T>A r.(?) p.(Phe89Ile) Parent #1 - pathogenic g.157160096T>A g.157367402T>A - - DNAJB6_000002 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 5 c.265T>A r.(?) p.(Phe89Ile) Parent #1 - pathogenic g.157160096T>A g.157367402T>A - - DNAJB6_000002 consistent with diagnosis LGMD PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 5 c.265T>A r.(?) p.(Phe89Ile) Parent #1 - pathogenic g.157160096T>A g.157367402T>A - - DNAJB6_000002 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 5 c.265T>A r.(?) p.(Phe89Ile) Parent #1 - pathogenic g.157160096T>A g.157367402T>A - - DNAJB6_000002 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel CRS, LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 5 c.265T>A r.(?) p.(Phe89Ile) Parent #1 - pathogenic g.157160096T>A g.157367402T>A - - DNAJB6_000002 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 5 c.265T>A r.(?) p.(Phe89Ile) Parent #1 - VUS g.157160096T>A g.157367402T>A - - DNAJB6_000002 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
+/. 5 c.265T>A r.(?) p.(Phe89Ile) Parent #1 - pathogenic g.157160096T>A g.157367402T>A - - DNAJB6_000002 no second variant in DNAJB6 PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 5 c.265T>A r.(?) p.(Phe89Ile) Parent #1 - pathogenic g.157160096T>A g.157367402T>A - - DNAJB6_000002 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 5 c.265T>A r.(?) p.(Phe89Ile) Parent #1 - pathogenic g.157160096T>A g.157367402T>A - - DNAJB6_000002 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 5 c.265T>A r.(?) p.(Phe89Ile) Parent #1 - pathogenic g.157160096T>A g.157367402T>A - - DNAJB6_000002 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 5 c.265T>A r.(?) p.(Phe89Ile) Parent #1 - pathogenic g.157160096T>A g.157367402T>A - - DNAJB6_000002 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 5 c.265T>A r.(?) p.(Phe89Ile) Parent #1 - pathogenic g.157160096T>A g.157367402T>A - - DNAJB6_000002 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 5 c.265T>A r.(?) p.(Phe89Ile) Parent #1 - pathogenic g.157160096T>A g.157367402T>A - - DNAJB6_000002 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 5 c.265T>A r.(?) p.(Phe89Ile) Parent #1 - pathogenic g.157160096T>A g.157367402T>A - - DNAJB6_000002 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
+/. 5 c.265T>A r.(?) p.(Phe89Ile) Parent #1 - pathogenic g.157160096T>A g.157367402T>A - - DNAJB6_000002 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - F - (United States) - - - - - 1 Madhuri Hegde
+/. 5 c.265T>A r.(?) p.(Phe89Ile) Parent #1 - pathogenic g.157160096T>A g.157367402T>A - - DNAJB6_000002 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 5 c.265T>A r.(?) p.(Phe89Ile) Parent #1 - pathogenic g.157160096T>A g.157367402T>A - - DNAJB6_000002 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
+/. 5 c.265T>A r.(?) p.(Phe89Ile) Parent #1 - pathogenic g.157160096T>A g.157367402T>A - - DNAJB6_000002 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 5 c.265T>A r.(?) p.(Phe89Ile) Parent #1 - pathogenic g.157160096T>A g.157367402T>A - - DNAJB6_000002 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 5 c.265T>A r.(?) p.(Phe89Ile) Parent #1 - pathogenic g.157160096T>A g.157367402T>A - - DNAJB6_000002 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 5 c.265T>A r.(?) p.(Phe89Ile) Parent #1 - pathogenic g.157160096T>A g.157367402T>A - - DNAJB6_000002 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - F - (United States) - - - - - 1 Madhuri Hegde
+/. 5 c.265T>A r.(?) p.(Phe89Ile) Parent #1 - pathogenic g.157160096T>A g.157367402T>A - - DNAJB6_000002 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. - c.265T>A r.(?) p.(Phe89Ile) Paternal (inferred) - pathogenic (dominant) g.157160096T>A - - - DNAJB6_000002 - PubMed: Kim 2018 - - Germline yes - - - - DNA SEQ - - LGMD Fam1PatIII10 PubMed: Kim 2018 4-generation family, 8 affected (3F, 5M) F - Korea - - - - - 8 Johan den Dunnen
?/. 5 c.271T>A r.(?) p.(Phe91Leu) Unknown - VUS g.157160102T>A g.157367408T>A - - DNAJB6_000007 - - - - De novo - - - - - DNA SEQ-NG - - LGMD - - - - - - - - - - - 1 Seok-Yong Choi
+/. 5 c.271T>A r.(?) p(Phe91Ile) Unknown - pathogenic g.157160102T>A g.157367408T>A - - DNAJB6_000007 - - - - Germline/De novo (untested) - - - - - DNA - blood - LGMD - - - F ? Belgium - 20y - - - 1 Alicia Alonso-Jiménez
?/. 5 c.271T>C r.(?) p.(Phe91Leu) Unknown - VUS g.157160102T>C g.157367408T>C - - DNAJB6_000006 - - - - Unknown - - - - - DNA SEQ - - LGMD - - - - - - - - - - - 1 Seok-Yong Choi
+/. 5 c.271T>C r.(?) p.(Phe91Leu) Paternal (inferred) - pathogenic g.157160102T>C g.157367408T>C - - DNAJB6_000006 - - - - Germline - - - - - DNA SEQ - - ? - - - F yes (Korea, South (Republic)) - - - - - 1 Anni Evilä
+/. 5 c.271T>G r.(?) p.(Phe91Val) Parent #1 - pathogenic g.157160102T>G g.157367408T>G - - DNAJB6_000023 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - M - (United States) - - - - - 1 Madhuri Hegde
+?/. - c.273C>G r.(?) p.(Phe91Leu) Unknown - likely pathogenic g.157160104C>G g.157367410C>G DNAJB6(NM_058246.4):c.273C>G (p.F91L) - DNAJB6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.273C>G r.(?) p.(Phe91Leu) Parent #1 - pathogenic g.157160104C>G g.157367410C>G - - DNAJB6_000013 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - M - (United States) - - - - - 1 Madhuri Hegde
+/. - c.273C>G r.(?) p.(Phe91Leu) Unknown ACMG pathogenic (dominant) g.157160104C>G g.157367410C>G - - DNAJB6_000013 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat123 PubMed: Chakravorty 2020 - F - India India - - - - 1 Johan den Dunnen
+/. - c.273C>G r.(?) p.(Phe91Leu) Unknown - pathogenic g.157160104C>G - DNAJB6(NM_058246.4):c.273C>G (p.F91L) - DNAJB6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.276A>G r.(?) p.(=) Unknown - likely benign g.157160107A>G - DNAJB6(NM_005494.2):c.276A>G (p.(Thr92=)) - DNAJB6_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.277T>C r.(?) p.(Phe93Leu) Parent #1 - pathogenic (dominant) g.157160108T>C g.157367414T>C - - DNAJB6_000004 segregates, confirmed by linkage LOD=3.00; not in 1383 European-American control exomes PubMed: Harms 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - LGMD1 - PubMed: Harms 2012 Fam1; 3-generation family, 7 affecteds, PatII2 F - United States white >52y - - - 1 Johan den Dunnen
+/. 5 c.277T>C r.(?) p.(Phe93Leu) Parent #1 - pathogenic (dominant) g.157160108T>C g.157367414T>C - - DNAJB6_000004 segregates, confirmed by linkage LOD=3.00; not in 1383 European-American control exomes PubMed: Harms 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - LGMD1 - PubMed: Harms 2012 Fam1; 3-generation family, 7 affecteds, PatII3 M - United States white >56y - - - 1 Johan den Dunnen
+/. 5 c.277T>C r.(?) p.(Phe93Leu) Parent #1 - pathogenic (dominant) g.157160108T>C g.157367414T>C - - DNAJB6_000004 segregates, confirmed by linkage LOD=3.00; not in 1383 European-American control exomes PubMed: Harms 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - LGMD1 - PubMed: Harms 2012 Fam1; 3-generation family, 7 affecteds, PatII7 F - United States white >37y - - - 1 Johan den Dunnen
+/. 5 c.277T>C r.(?) p.(Phe93Leu) Parent #1 - pathogenic (dominant) g.157160108T>C g.157367414T>C - - DNAJB6_000004 segregates, confirmed by linkage LOD=3.00; not in 1383 European-American control exomes PubMed: Harms 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - LGMD1 - PubMed: Harms 2012 Fam1; 3-generation family, 7 affecteds, PatIII1 M - United States white >41y - - - 1 Johan den Dunnen
+/. 5 c.277T>C r.(?) p.(Phe93Leu) Parent #1 - pathogenic (dominant) g.157160108T>C g.157367414T>C - - DNAJB6_000004 segregates, confirmed by linkage LOD=3.00; not in 1383 European-American control exomes PubMed: Harms 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - LGMD1 - PubMed: Harms 2012 Fam1; 3-generation family, 7 affecteds, PatIII2 F - United States white >35y - - - 1 Johan den Dunnen
+/. 5 c.277T>C r.(?) p.(Phe93Leu) Parent #1 - pathogenic (dominant) g.157160108T>C g.157367414T>C - - DNAJB6_000004 not in 208 control chromosomes; segregates PubMed: Sarparanta 2012 - - Germline - - - - - DNA SEQ - - LGMD1 - PubMed: Sarparanta 2012 3-generation family, 4 affecteds - - Italy - - - - - 4 Johan den Dunnen
+/. 5 c.279C>A r.(?) p.(Phe93Leu) Parent #1 - pathogenic (dominant) g.157160110C>A g.157367416C>A - - DNAJB6_000003 not in 208 control chromosomes; segregates PubMed: Sarparanta 2012 - - Germline - - - - - DNA SEQ - - LGMD1 - PubMed: Sarparanta 2012 4-generation family, 8 affecteds - - Italy - - - - - 8 Johan den Dunnen
+/. 5 c.279C>A r.(?) p.(Phe93Leu) Parent #1 - pathogenic g.157160110C>A g.157367416C>A - - DNAJB6_000003 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - M - (United States) - - - - - 1 Madhuri Hegde
+/. 5 c.279C>A r.(?) p.(Phe93Leu) Parent #1 - pathogenic g.157160110C>A g.157367416C>A - - DNAJB6_000003 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - M - (United States) - - - - - 1 Madhuri Hegde
+/. 5 c.279C>A r.(?) p.(Phe93Leu) Parent #1 - pathogenic g.157160110C>A g.157367416C>A - - DNAJB6_000003 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 5 c.279C>G r.279c>g p.Phe93Leu Parent #1 - pathogenic (dominant) g.157160110C>G g.157367416C>G - - DNAJB6_000001 not in 404 control chromosomes; segregates PubMed: Sarparanta 2012 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD1 - PubMed: Sandell 2010, PubMed: Hackman 2011 2-generation family, affected father/son - - Finland - - - - - 1 Johan den Dunnen
+/. 5 c.279C>G r.279c>g p.Phe93Leu Parent #1 - pathogenic (dominant) g.157160110C>G g.157367416C>G - - DNAJB6_000001 not in 404 control chromosomes; segregates PubMed: Sarparanta 2012 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD1 - PubMed: Sandell 2010, PubMed: Hackman 2011 2-generation family, affected mother/son - - Finland - - - - - 2 Johan den Dunnen
+/. 5 c.279C>G r.279c>g p.Phe93Leu Parent #1 - pathogenic (dominant) g.157160110C>G g.157367416C>G - - DNAJB6_000001 not in 404 control chromosomes; segregates PubMed: Sarparanta 2012 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD1 - PubMed: Sandell 2010, PubMed: Hackman 2011 2-generation family, affected mother/son - - Finland - - - - - 1 Johan den Dunnen
+/. 5 c.279C>G r.279c>g p.Phe93Leu Parent #1 - pathogenic (dominant) g.157160110C>G g.157367416C>G - - DNAJB6_000001 mapped by linkage; not in 404 control chromosomes; segregates PubMed: Sarparanta 2012 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD1 - PubMed: Sandell 2010, PubMed: Hackman 2011 3-generation family, 4 affecteds - - Finland - - - - - 3 Johan den Dunnen
+/. 5 c.279C>G r.279c>g p.Phe93Leu Parent #1 - pathogenic (dominant) g.157160110C>G g.157367416C>G - - DNAJB6_000001 mapped by linkage; not in 404 control chromosomes; segregates PubMed: Sarparanta 2012 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - LGMD1 - PubMed: Sandell 2010, PubMed: Hackman 2011 4-generation family, 12 affecteds - - Finland - - - - - 9 Johan den Dunnen
+/. 5 c.279C>G r.279c>g p.Phe93Leu Unknown - NA g.157160110C>G g.157367416C>G - - DNAJB6_000001 293FT cell expression increased DNAJB6 half-life (increased effect p.= co-expressed) PubMed: Sarparanta 2012 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 5 c.279C>G r.279c>g p.Phe93Leu Unknown - NA g.157160110C>G g.157367416C>G - - DNAJB6_000001 COS-1 cell expression co-IP, no effect on oligomerisation PubMed: Sarparanta 2012 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 5 c.279C>G r.279c>g p.Phe93Leu Unknown - NA g.157160110C>G g.157367416C>G - - DNAJB6_000001 COS-1 cell expression, no effect on BAG3, HSPB8 and STUB1 co-IP PubMed: Sarparanta 2012 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.279C>G r.279c>g p.Phe93Leu Unknown - NA g.157160110C>G g.157367416C>G - - DNAJB6_000001 expression cloning with pEGFP/HD-120Q significantly impaired anti-aggregation function PubMed: Sarparanta 2012 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.279C>G r.279c>g p.Phe93Leu Unknown - NA g.157160110C>G g.157367416C>G - - DNAJB6_000001 mRNA infection expression in zebrafish embryos; loss of function from DNAJB6b (not DNAJB6a), effect more severe when p.= coinjected PubMed: Sarparanta 2012 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.279C>G r.(?) p.(Phe93Leu) Parent #1 - pathogenic g.157160110C>G g.157367416C>G - - DNAJB6_000001 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 5 c.279C>G r.(?) p.(Phe93Leu) Parent #1 - VUS g.157160110C>G g.157367416C>G - - DNAJB6_000001 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 5 c.279C>G r.(?) p.(Phe93Leu) Parent #1 - pathogenic g.157160110C>G g.157367416C>G - - DNAJB6_000001 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+?/. - c.279C>G r.(?) p.(Phe93Leu) Unknown - likely pathogenic g.157160110C>G g.157367416C>G - - DNAJB6_000001 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 1 Johan den Dunnen
-?/. - c.279C>T r.(?) p.(Phe93=) Unknown - likely benign g.157160110C>T g.157367416C>T DNAJB6(NM_005494.2):c.279C>T (p.(Phe93=)), DNAJB6(NM_058246.3):c.279C>T (p.F93=), DNAJB6(NM_058246.4):c.279C>T (p.F93=) - DNAJB6_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.279C>T r.(?) p.(Phe93=) Unknown - likely benign g.157160110C>T - DNAJB6(NM_005494.2):c.279C>T (p.(Phe93=)), DNAJB6(NM_058246.3):c.279C>T (p.F93=), DNAJB6(NM_058246.4):c.279C>T (p.F93=) - DNAJB6_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.279C>T r.(?) p.(Phe93=) Unknown - likely benign g.157160110C>T - DNAJB6(NM_005494.2):c.279C>T (p.(Phe93=)), DNAJB6(NM_058246.3):c.279C>T (p.F93=), DNAJB6(NM_058246.4):c.279C>T (p.F93=) - DNAJB6_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.287C>G r.(?) p.(Pro96Arg) Parent #1 - pathogenic (dominant) g.157160118C>G g.157367424C>G - - DNAJB6_000005 segregates; not in 1081 African-America control exomes PubMed: Harms 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - MYOP - PubMed: Harms 2012 Fam2; 4-generation family, 9 affecteds, PatIII1 F - United States African American >66y - - - 1 Johan den Dunnen
+/. 5 c.287C>G r.(?) p.(Pro96Arg) Parent #1 - pathogenic (dominant) g.157160118C>G g.157367424C>G - - DNAJB6_000005 segregates; not in 1081 African-America control exomes PubMed: Harms 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - MYOP - PubMed: Harms 2012 Fam2; 4-generation family, 9 affecteds, PatIII5 M - United States African American >45y - - - 1 Johan den Dunnen
+/. 5 c.287C>G r.(?) p.(Pro96Arg) Parent #1 - pathogenic (dominant) g.157160118C>G g.157367424C>G - - DNAJB6_000005 segregates; not in 1081 African-America control exomes PubMed: Harms 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - MYOP - PubMed: Harms 2012 Fam2; 4-generation family, 9 affecteds, PatIII6 M - United States African American >56y - - - 1 Johan den Dunnen
+/. 5 c.287C>G r.(?) p.(Pro96Arg) Parent #1 - pathogenic g.157160118C>G g.157367424C>G - - DNAJB6_000005 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
+/. 5 c.287C>T r.(?) p.(Pro96Leu) Unknown - pathogenic g.157160118C>T g.157367424C>T - - DNAJB6_000017 - - - - Germline yes - - - - DNA SEQ-NG-I White blood cell - MD - - - F no Taiwan Han Chinese >51y - - - 1 Yi-Chung Lee
+/. - c.287C>T r.(?) p.(Pro96Leu) Parent #1 ACMG pathogenic g.157160118C>T g.157367424C>T - - DNAJB6_000017 ACMG PP1-S, PM2, PP1-M, PP1, PP2, PP3, PP4 PubMed: Monies 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - 759-gene panel neurological disorders LGMD Fam58 / 14R-00183 PubMed: Monies 2016 759-gene panel analysis 50 patients suspected of LGMD - - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.298T>A r.(?) p.(Phe100Ile) Paternal (confirmed) - pathogenic (dominant) g.157160129T>A - - - DNAJB6_000057 - PubMed: Kim 2018 - - Germline yes - - - - DNA SEQ - - LGMD Fam2Pat2/3 PubMed: Kim 2018 2-generation family, affected father/son M - Korea - - - - - 2 Johan den Dunnen
?/. 5 c.299T>C r.(?) p.(Phe100Ser) Parent #1 - VUS g.157160130T>C g.157367436T>C - - DNAJB6_000024 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.300C>G r.(?) p.(Phe100Leu) Unknown - VUS g.157160131C>G - - - DNAJB6_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.346+1891T>C r.(=) p.(=) Unknown - benign g.157162068T>C g.157369374T>C DNAJB6(NM_058246.4):c.346+1891T>C - DNAJB6_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.346+1926A>G r.(=) p.(=) Unknown - benign g.157162103A>G g.157369409A>G DNAJB6(NM_058246.4):c.346+1926A>G - DNAJB6_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.347-14A>T r.(=) p.(=) Unknown - likely benign g.157174926A>T - DNAJB6(NM_005494.2):c.347-14A>T (p.(=)) - DNAJB6_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 6 c.381G>T r.(?) p.(Arg127Ser) Parent #1 - VUS g.157174974G>T g.157382280G>T - - DNAJB6_000025 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
?/. 6 c.410C>T r.(?) p.(Thr137Met) Parent #1 - VUS g.157175003C>T g.157382309C>T - - DNAJB6_000026 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 6 c.410C>T r.(?) p.(Thr137Met) Parent #1 - VUS g.157175003C>T g.157382309C>T - - DNAJB6_000026 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
-?/. - c.419T>G r.(?) p.(Phe140Cys) Unknown - likely benign g.157175012T>G - DNAJB6(NM_058246.3):c.419T>G (p.(Phe140Cys)) - DNAJB6_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 6 c.428C>T r.(?) p.(Ala143Val) Parent #1 - VUS g.157175021C>T g.157382327C>T - - DNAJB6_000027 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
Legend   How to query   « First ‹ Prev     1 2     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.