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 NM_001128227.2 transcript reference sequence.

99 entries on 1 page. Showing entries 1 - 99.
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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 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 - 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 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 - - - - - - - - - - - - - - - - - - - - - - -
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