Full data view for gene GNE

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

100 entries on 1 page. 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     
+/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #2 - pathogenic g.36217445C>T g.36217448C>T 2086G>A (V696M) - GNE_000007 - PubMed: Liewluck 2006 - - Germline - - - - - DNA PCR, SEQ - - MPD - - affected brother F - Thailand - - - - - 1 Johan den Dunnen
+/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #1 - pathogenic g.36217445C>T g.36217448C>T G>A (V696M) - GNE_000007 - PubMed: Saechao 2010 - - Germline - - - - - DNA PCR, SEQ - - IBM2 - PubMed: Saechao 2010 - F - India Asian - - - - 1 Johan den Dunnen
+/. 12 c.2179G>A r.(?) p.(Val727Met) Unknown - pathogenic g.36217445C>T g.36217448C>T NM_005476.5:c.2086G>A - GNE_000007 - from website {DBsub-Emory} - - Unknown - - - - - DNA SEQ - - ? - - - - - (United States) - - - - - 1 Madhuri Hegde
+?/. 12 c.2179G>A r.(?) p.(Val727Met) Unknown - likely pathogenic g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Celeste 2014, Journal: Celeste 2014 - - Unknown ? - - - - DNA PCR, SEQ - - MYOP - - - M no United States Asian (non-latino/hispanic) >32y - - - 1 Frank Celeste
+?/. 12 c.2179G>A r.(?) p.(Val727Met) Unknown - likely pathogenic g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Celeste 2014, Journal: Celeste 2014 - - Unknown ? - - - - DNA PCR, SEQ - - MYOP - - - M no India Asian >33y - - - 1 Frank Celeste
+?/. 12 c.2179G>A r.(?) p.(Val727Met) Unknown - likely pathogenic g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Celeste 2014, Journal: Celeste 2014 - - Unknown ? - - - - DNA PCR, SEQ - - MYOP - - - M no India Asian >52y - - - 1 Frank Celeste
+?/. 12 c.2179G>A r.(?) p.(Val727Met) Unknown - likely pathogenic g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Celeste 2014, Journal: Celeste 2014 - - Unknown ? - - - - DNA PCR, SEQ - - MYOP - - - F no Mexico White (Latino/hispanic) >51y - - - 1 Frank Celeste
+/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #2 - pathogenic g.36217445C>T g.36217448C>T - - GNE_000007 - - - - Germline - - - - - DNA PCR, SEQ - - MPD - - - F - Canada - - - - - 1 Tom Winder
+/. 12 c.2179G>A r.(?) p.(Val727Met) Maternal (confirmed) - pathogenic g.36217445C>T g.36217448C>T 2137G>A (V696M) - GNE_000007 not in 132 control chromosomes PubMed: Eisenberg 2001, PubMed: Eisenberg 2003, OMIM:var0008 - - Germline - - FokI- - - DNA PCR, SEQ - - IBM2 - - 2-generation family, 2 affecteds (F, M) - - India - - - - - 3 Johan den Dunnen
+/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #2 - pathogenic g.36217445C>T g.36217448C>T 2086G>A (V696M) - GNE_000007 - PubMed: Voermans 2010 - - Germline - - - - - DNA PCR, SEQ - - IBM2 - - family, 2 siblings ? - Netherlands - - - - - 1 Johan den Dunnen
+/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #2 - pathogenic g.36217445C>T g.36217448C>T 2086G>A (V696M) - GNE_000007 - PubMed: Voermans 2010 - - Germline - - - - - DNA PCR, SEQ - - IBM2 - - family, 2 siblings ? - Netherlands - - - - - 1 Johan den Dunnen
+/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #2 - pathogenic g.36217445C>T g.36217448C>T V696M - GNE_000007 - PubMed: Huizing 2004 - - Germline - - - - - DNA PCR, SEQ - - IBM2 - - - F - India Asian - - - - 1 Johan den Dunnen
+/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #2 - pathogenic g.36217445C>T g.36217448C>T V696M - GNE_000007 - PubMed: Huizing 2004 - - Germline - - - - - DNA PCR, SEQ - - IBM2 - - - F - India - - - - - 1 Johan den Dunnen
+/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #2 - pathogenic g.36217445C>T g.36217448C>T 2086G>A (V696M) - GNE_000007 - PubMed: Liewluck 2006 - - Germline - - - - - DNA PCR, SEQ - - MPD - - - F - Thailand - - - - - 1 Johan den Dunnen
+/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #2 - pathogenic g.36217445C>T g.36217448C>T 2086G>A (V696M) - GNE_000007 - PubMed: Liewluck 2006 - - Germline - - - - - DNA PCR, SEQ - - MPD - - affected sister M - Thailand - - - - - 1 Johan den Dunnen
+/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #2 - pathogenic g.36217445C>T g.36217448C>T 2086G>A (V696M) - GNE_000007 - PubMed: Liewluck 2006 - - Germline - - - - - DNA PCR, SEQ - - MPD - - affected brother F - Thailand - - - - - 1 Johan den Dunnen
+/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #2 - pathogenic g.36217445C>T g.36217448C>T - - GNE_000007 - - - - Germline - - - - - DNA PCR, SEQ - - IBM - - - - - Pakistan - - - - - 1 Tom Winder
+/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #2 - pathogenic g.36217445C>T g.36217448C>T - - GNE_000007 - - - - Germline - - - - - DNA PCR, SEQ - - IBM - - - M - India - - - - - 1 Tom Winder
+?/. 12 c.2179G>A r.(?) p.(Val727Met) Unknown - likely pathogenic g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Celeste 2014, Journal: Celeste 2014 - - Unknown ? - - - - DNA PCR, SEQ - - MYOP - - - M no Iran Asian >32y - - - 1 Frank Celeste
+?/. - c.2179G>A r.(?) p.(Val727Met) Unknown - likely pathogenic g.36217445C>T g.36217448C>T GNE(NM_001128227.2):c.2179G>A (p.V727M), GNE(NM_001128227.3):c.2179G>A (p.V727M), GNE(NM_005476.7):c.2086G>A (p.(Val696Met)) - GNE_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #2 - pathogenic g.36217445C>T g.36217448C>T 2086G>A (V696M) - GNE_000007 - PubMed: Tanboon 2014 - - Germline - - - - - DNA SEQ - - MPD 24707269-Pat PubMed: Tanboon 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Thailand - - - - - 1 Johan den Dunnen
+/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #2 - pathogenic g.36217445C>T g.36217448C>T 2086G>A (V696M) - GNE_000007 - PubMed: Kintarak 2010 - - Germline - - - - - DNA SEQ - - MPD 21294420-Pat PubMed: Kintarak 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Thailand - - - - - 1 Johan den Dunnen
+/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #1 - pathogenic g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Garland 2017 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - MPD 28717665-Pat1/2 PubMed: Garland 2017 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M no India - - - - - 2 Johan den Dunnen
+/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #2 - pathogenic g.36217445C>T g.36217448C>T 2086C>A (Val696Met) - GNE_000007 - PubMed: Nalini 2013 - - Germline - - - - - DNA SEQ - - MPD 24005727-Pat2 PubMed: Nalini 2013 2-generation family, 1 affected, unaffected parents F - India - - - - - 1 Johan den Dunnen
+/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #2 - pathogenic g.36217445C>T g.36217448C>T 2086C>A (Val696Met) - GNE_000007 - PubMed: Nalini 2013 - - Germline - - - - - DNA SEQ - - MPD 24005727-Pat3 PubMed: Nalini 2013 2-generation family, 1 affected, unaffected parents F - India - - - - - 1 Johan den Dunnen
+/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #2 - pathogenic g.36217445C>T g.36217448C>T 2086C>A (Val696Met) - GNE_000007 - PubMed: Nalini 2013 - - Germline - - - - - DNA SEQ - - MPD 24005727-Pat4 PubMed: Nalini 2013 2-generation family, 1 affected, unaffected parents F - India - - - - - 1 Johan den Dunnen
+/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #2 - pathogenic g.36217445C>T g.36217448C>T 2086C>A (Val696Met) - GNE_000007 - PubMed: Nalini 2013 - - Germline - - - - - DNA SEQ - - MPD 24005727-Pat5 PubMed: Nalini 2013 2-generation family, 1 affected, unaffected parents M - India - - - - - 1 Johan den Dunnen
+/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #1 - pathogenic g.36217445C>T g.36217448C>T 2086C>A (Val696Met) - GNE_000007 unknown variant 2nd chromosome PubMed: Nalini 2013 - - Germline - - - - - DNA SEQ - - MPD 24005727-Pat6 PubMed: Nalini 2013 2-generation family, 2 affected sisters, unaffected parents F - India - - - - - 2 Johan den Dunnen
+/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #1 - pathogenic g.36217445C>T g.36217448C>T 2086C>A (Val696Met) - GNE_000007 unknown variant 2nd chromosome PubMed: Nalini 2013 - - Germline - - - - - DNA SEQ - - MPD 24005727-Pat7 PubMed: Nalini 2013 sister Pat6 F - India - - - - - 1 Johan den Dunnen
+/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #1 - pathogenic g.36217445C>T g.36217448C>T 2086C>A (Val696Met) - GNE_000007 unknown variant 2nd chromosome PubMed: Nalini 2013 - - Germline - - - - - DNA SEQ - - MPD 24005727-Pat8 PubMed: Nalini 2013 2-generation family, 1 affected, unaffected parents M - India - - - - - 1 Johan den Dunnen
+/. 12 c.2179G>A r.2179g>a p.Val727Met Parent #1 - pathogenic g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Zhu 2017 - - Germline - - - - - DNA, RNA PCR, RT-PCR, SEQ, SEQ-NG - - MPD 27829678-Pat4 PubMed: Zhu 2017 2-generation family, 1 affected, unaffected parents M - Bangladesh - - - - - 1 Johan den Dunnen
+/. 12 c.2179G>A r.2179g>a p.Val727Met Parent #1 - pathogenic g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Zhu 2017 - - Germline - - - - - DNA, RNA PCR, RT-PCR, SEQ, SEQ-NG - - MPD 27829678-Pat5 PubMed: Zhu 2017 2-generation family, 1 affected, unaffected parents M - India - - - - - 1 Johan den Dunnen
+/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #1 - pathogenic g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Zhu 2017 - - Germline yes - - - - DNA PCR, SEQ, SEQ-NG - - MPD 27829678-Pat12 PubMed: Zhu 2017 2-generation family, 2 affected sibs, unaffected parents F - India - - - - - 2 Johan den Dunnen
+/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #1 - pathogenic g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Zhu 2017 - - Germline - - - - - DNA PCR, SEQ, SEQ-NG - - MPD 27829678-Pat13 PubMed: Zhu 2017 sib2 F - India - - - - - 1 Johan den Dunnen
+?/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #1 - likely pathogenic g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+?/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #1 - likely pathogenic g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+?/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #1 - likely pathogenic g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+?/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #1 - likely pathogenic g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #1 - pathogenic g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #1 - pathogenic g.36217445C>T g.36217448C>T - - GNE_000007 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
+?/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #1 - likely pathogenic g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+?/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #1 - likely pathogenic g.36217445C>T g.36217448C>T - - GNE_000007 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+?/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #1 - likely pathogenic g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #1 - pathogenic g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #1 - pathogenic g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+?/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #1 - likely pathogenic g.36217445C>T g.36217448C>T - - GNE_000007 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.2179G>A r.2179g>a p.Val727Met Paternal (confirmed) - pathogenic (recessive) g.36217445C>T g.36217448C>T - - GNE_000007 - {PMID:Chakravorty 2019:30990900 - - Germline - - - - - DNA, RNA arrayCGH, RT-PCR, SEQ - - MYOP patient PubMed: Chakravorty 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M no United States India;Guyan - - - - 1 Johan den Dunnen
+/. - c.2179G>A r.(?) p.(Val727Met) Unknown - pathogenic g.36217445C>T - GNE(NM_001128227.2):c.2179G>A (p.V727M), GNE(NM_001128227.3):c.2179G>A (p.V727M), GNE(NM_005476.7):c.2086G>A (p.(Val696Met)) - GNE_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2179G>A r.(?) p.(Val727Met) Both (homozygous) - VUS g.36217445C>T g.36217448C>T NM_005476.5:c.2086G>A - GNE_000007 - PubMed: Riazuddin 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID PKMR08 PubMed: Riazuddin 2017 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.2179G>A r.(?) p.(Val727Met) Unknown - pathogenic g.36217445C>T - GNE(NM_001128227.2):c.2179G>A (p.V727M), GNE(NM_001128227.3):c.2179G>A (p.V727M), GNE(NM_005476.7):c.2086G>A (p.(Val696Met)) - GNE_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 12 c.2179G>A r.(?) p.(Val727Met) Unknown - likely pathogenic g.36217445C>T g.36217448C>T - - GNE_000007 - - - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-4296 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+?/. 12 c.2179G>A r.(?) p.(Val727Met) Unknown - likely pathogenic g.36217445C>T g.36217448C>T - - GNE_000007 - - - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-4544 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+?/. 12 c.2179G>A r.(?) p.(Val727Met) Unknown - likely pathogenic g.36217445C>T g.36217448C>T - - GNE_000007 - - - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-439 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #2 - VUS g.36217445C>T g.36217448C>T - - GNE_000007 - - ClinVar-RCV000627754.1 rs121908627 Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-5772 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. - c.2179G>A r.(?) p.(Val727Met) Unknown - VUS g.36217445C>T - GNE(NM_001128227.2):c.2179G>A (p.V727M), GNE(NM_001128227.3):c.2179G>A (p.V727M), GNE(NM_005476.7):c.2086G>A (p.(Val696Met)) - GNE_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2179G>A r.(?) p.(Val727Met) Parent #1 ACMG pathogenic (recessive) g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat74 PubMed: Chakravorty 2020 - F - India India - - - - 1 Johan den Dunnen
+/. - c.2179G>A r.(?) p.(Val727Met) Parent #1 ACMG pathogenic (recessive) g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat76 PubMed: Chakravorty 2020 - M - India India - - - - 1 Johan den Dunnen
+/. - c.2179G>A r.(?) p.(Val727Met) Parent #1 ACMG pathogenic (recessive) g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat78 PubMed: Chakravorty 2020 - M - India India - - - - 1 Johan den Dunnen
+/. - c.2179G>A r.(?) p.(Val727Met) Parent #1 ACMG pathogenic (recessive) g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat80 PubMed: Chakravorty 2020 - F - India India - - - - 1 Johan den Dunnen
+/. - c.2179G>A r.(?) p.(Val727Met) Parent #1 ACMG pathogenic (recessive) g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat82 PubMed: Chakravorty 2020 - M - India India - - - - 1 Johan den Dunnen
+/. - c.2179G>A r.(?) p.(Val727Met) Parent #1 ACMG pathogenic (recessive) g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat84 PubMed: Chakravorty 2020 - M - India India - - - - 1 Johan den Dunnen
+/. - c.2179G>A r.(?) p.(Val727Met) Parent #1 ACMG pathogenic (recessive) g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat87 PubMed: Chakravorty 2020 - F - India India - - - - 1 Johan den Dunnen
+/. - c.2179G>A r.(?) p.(Val727Met) Parent #1 ACMG pathogenic (recessive) g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat89 PubMed: Chakravorty 2020 - F - India India - - - - 1 Johan den Dunnen
+/. - c.2179G>A r.(?) p.(Val727Met) Parent #1 ACMG pathogenic (recessive) g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat90 PubMed: Chakravorty 2020 - F - India India - - - - 1 Johan den Dunnen
+/. - c.2179G>A r.(?) p.(Val727Met) Parent #1 ACMG pathogenic (recessive) g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat91 PubMed: Chakravorty 2020 - M - India India - - - - 1 Johan den Dunnen
+/. - c.2179G>A r.(?) p.(Val727Met) Both (homozygous) ACMG pathogenic (recessive) g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat93 PubMed: Chakravorty 2020 - F - India India - - - - 1 Johan den Dunnen
+/. - c.2179G>A r.(?) p.(Val727Met) Both (homozygous) ACMG pathogenic (recessive) g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat94 PubMed: Chakravorty 2020 - F - India India - - - - 1 Johan den Dunnen
+/. - c.2179G>A r.(?) p.(Val727Met) Both (homozygous) ACMG pathogenic (recessive) g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat96 PubMed: Chakravorty 2020 - F - India India - - - - 1 Johan den Dunnen
+/. - c.2179G>A r.(?) p.(Val727Met) Parent #1 ACMG pathogenic (recessive) g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat99 PubMed: Chakravorty 2020 - M - India India - - - - 1 Johan den Dunnen
+/. - c.2179G>A r.(?) p.(Val727Met) Parent #1 ACMG pathogenic (recessive) g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat100 PubMed: Chakravorty 2020 - F - India India - - - - 1 Johan den Dunnen
+/. - c.2179G>A r.(?) p.(Val727Met) Parent #1 ACMG pathogenic (recessive) g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat101 PubMed: Chakravorty 2020 - F - India India - - - - 1 Johan den Dunnen
+/. - c.2179G>A r.(?) p.(Val727Met) Parent #1 ACMG pathogenic (recessive) g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat102 PubMed: Chakravorty 2020 - M - India India - - - - 1 Johan den Dunnen
+/. - c.2179G>A r.(?) p.(Val727Met) Both (homozygous) ACMG pathogenic (recessive) g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat103 PubMed: Chakravorty 2020 - F - India India - - - - 1 Johan den Dunnen
+/. - c.2179G>A r.(?) p.(Val727Met) Parent #1 ACMG pathogenic (recessive) g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat104 PubMed: Chakravorty 2020 - M - India India - - - - 1 Johan den Dunnen
+/. - c.2179G>A r.(?) p.(Val727Met) Parent #1 ACMG pathogenic (recessive) g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat77 PubMed: Chakravorty 2020 - M - India India - - - - 1 Johan den Dunnen
+/. - c.2179G>A r.(?) p.(Val727Met) Parent #1 ACMG pathogenic (recessive) g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat79 PubMed: Chakravorty 2020 - M - India India - - - - 1 Johan den Dunnen
+/. - c.2179G>A r.(?) p.(Val727Met) Parent #1 ACMG pathogenic (recessive) g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat81 PubMed: Chakravorty 2020 - F - India India - - - - 1 Johan den Dunnen
+/. - c.2179G>A r.(?) p.(Val727Met) Parent #2 ACMG pathogenic (recessive) g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat98 PubMed: Chakravorty 2020 - F - India India - - - - 1 Johan den Dunnen
+/. - c.2179G>A r.(?) p.(Val727Met) Parent #2 ACMG pathogenic (recessive) g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat105 PubMed: Chakravorty 2020 - F - India India - - - - 1 Johan den Dunnen
+/. - c.2179G>A r.(?) p.(Val727Met) Parent #2 ACMG pathogenic (recessive) g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat106 PubMed: Chakravorty 2020 - F - India India - - - - 1 Johan den Dunnen
+/. - c.2179G>A r.(?) p.(Val727Met) Parent #2 ACMG pathogenic (recessive) g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat107 PubMed: Chakravorty 2020 - M - India India - - - - 1 Johan den Dunnen
+/. - c.2179G>A r.(?) p.(Val727Met) Parent #2 ACMG pathogenic (recessive) g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat108 PubMed: Chakravorty 2020 - F - India India - - - - 1 Johan den Dunnen
+/. - c.2179G>A r.(?) p.(Val727Met) Unknown - pathogenic (recessive) g.36217445C>T - - - GNE_000007 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat118 PubMed: Chakravorty 2020 - M - India India - - - - 1 Johan den Dunnen
+/. - c.2179G>A r.(?) p.(Val727Met) Unknown - pathogenic g.36217445C>T - - - GNE_000007 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat42 PubMed: Chakravorty 2020 - F - India India - - - - 1 Johan den Dunnen
+/. - c.2179G>A r.(?) p.(Val727Met) Unknown - pathogenic g.36217445C>T - - - GNE_000007 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat125 PubMed: Chakravorty 2020 - M - India India - - - - 1 Johan den Dunnen
+/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #1 - pathogenic (recessive) g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Khadilkar 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - gene panel MYOP Pat-GNE1 PubMed: Khadilkar 2022 - - - India - - - - - 1 Johan den Dunnen
+/. 12 c.2179G>A r.(?) p.(Val727Met) Both (homozygous) - pathogenic (recessive) g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Khadilkar 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - gene panel MYOP Pat-GNE2 PubMed: Khadilkar 2022 - - - India - - - - - 1 Johan den Dunnen
+/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #1 - pathogenic (recessive) g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Khadilkar 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - gene panel MYOP Pat-GNE3 PubMed: Khadilkar 2022 - - - India - - - - - 1 Johan den Dunnen
+/. 12 c.2179G>A r.(?) p.(Val727Met) Both (homozygous) - pathogenic (recessive) g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Khadilkar 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - gene panel MYOP Pat-GNE4 PubMed: Khadilkar 2022 - - - India - - - - - 1 Johan den Dunnen
+/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #1 - pathogenic (recessive) g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Khadilkar 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - gene panel MYOP Pat-GNE5 PubMed: Khadilkar 2022 - - - India - - - - - 1 Johan den Dunnen
+/. 11 c.2179G>A r.(?) p.(Val727Met) Parent #1 - pathogenic (recessive) g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Khadilkar 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - gene panel MYOP Pat-GNE16 PubMed: Khadilkar 2022 - - - India - - - - - 1 Johan den Dunnen
+/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #2 - pathogenic (recessive) g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Khadilkar 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - gene panel MYOP Pat-GNE7 PubMed: Khadilkar 2022 - - - India - - - - - 1 Johan den Dunnen
+/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #2 - pathogenic (recessive) g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Khadilkar 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - gene panel MYOP Pat-GNE9 PubMed: Khadilkar 2022 - - - India - - - - - 1 Johan den Dunnen
+/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #2 - pathogenic (recessive) g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Khadilkar 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - gene panel MYOP Pat-GNE10 PubMed: Khadilkar 2022 - - - India - - - - - 1 Johan den Dunnen
+/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #2 - pathogenic (recessive) g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Khadilkar 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - gene panel MYOP Pat-GNE11 PubMed: Khadilkar 2022 - - - India - - - - - 1 Johan den Dunnen
+/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #2 - pathogenic (recessive) g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Khadilkar 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - gene panel MYOP Pat-GNE12 PubMed: Khadilkar 2022 - - - India - - - - - 1 Johan den Dunnen
+/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #2 - pathogenic (recessive) g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Khadilkar 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - gene panel MYOP Pat-GNE13 PubMed: Khadilkar 2022 - - - India - - - - - 1 Johan den Dunnen
+/. 12 c.2179G>A r.(?) p.(Val727Met) Parent #2 - pathogenic (recessive) g.36217445C>T g.36217448C>T - - GNE_000007 - PubMed: Khadilkar 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - gene panel MYOP Pat-GNE15 PubMed: Khadilkar 2022 - - - India - - - - - 1 Johan den Dunnen
+?/. - c.2179G>A r.(?) p.(Val727Met) Unknown - likely pathogenic g.36217445C>T - GNE(NM_001128227.2):c.2179G>A (p.V727M), GNE(NM_001128227.3):c.2179G>A (p.V727M), GNE(NM_005476.7):c.2086G>A (p.(Val696Met)) - GNE_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2179G>A r.(?) p.(Val727Met) Parent #1 ACMG likely pathogenic g.36217445C>T g.36217448C>T - - GNE_000007 ACMG PP3, PM1, PM3, PP1 PubMed: Molaei 2025 SCV006074976 - Germline - - - - - DNA SEQ, SEQ-NG - WES LGMD Fam301488Pat837 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F yes Iran - - - - - 1 Johan den Dunnen
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