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.

114 entries on 2 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     
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Paternal (confirmed) - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Tomimitsu 2002, PubMed: Eisenberg 2003, OMIM:var0013 - - Germline yes - - - - DNA PCR, SEQ - - NM;IBM2 - - - F - Japan - - - - - 2 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Paternal (confirmed) - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Tomimitsu 2002, PubMed: Eisenberg 2003, OMIM:var0013 - - Germline yes - - - - DNA PCR, SEQ - - NM;IBM2 - - - M - Japan - - - - - 2 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Paternal (confirmed) - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Tomimitsu 2002, PubMed: Eisenberg 2003, OMIM:var0013 - - Germline yes - - - - DNA PCR, SEQ - - NM;IBM2 - - - F - Japan - - - - - 2 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Paternal (confirmed) - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Tomimitsu 2002, PubMed: Eisenberg 2003, OMIM:var0013 - - Germline yes - - - - DNA PCR, SEQ - - NM;IBM2 - - - F - Japan - - - - - 2 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Paternal (confirmed) - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Tomimitsu 2002, PubMed: Eisenberg 2003, OMIM:var0013 - - Germline yes - - - - DNA PCR, SEQ - - NM;IBM2 - - - F - Japan - - - - - 2 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Paternal (confirmed) - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Tomimitsu 2002, PubMed: Eisenberg 2003, OMIM:var0013 - - Germline yes - - - - DNA PCR, SEQ - - NM;IBM2 - - - M - Japan - - - - - 2 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Paternal (inferred) - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Tomimitsu 2002 - - Germline yes - - - - DNA PCR, SEQ - - MPD - - - F - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.1807g>c p.Val603Leu Parent #1 - pathogenic g.36219937C>G g.36219940C>G V572L - GNE_000067 - PubMed: Tomimitsu 2004, OMIM:var0013 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - MPD - - - F - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.1807g>c p.Val603Leu Parent #1 - pathogenic g.36219937C>G g.36219940C>G V572L - GNE_000067 - PubMed: Tomimitsu 2004, OMIM:var0013 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - MPD - - - M - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.1807g>c p.Val603Leu Parent #1 - pathogenic g.36219937C>G g.36219940C>G V572L - GNE_000067 - PubMed: Tomimitsu 2004, OMIM:var0013 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - MPD - - - F - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.1807g>c p.Val603Leu Parent #1 - pathogenic g.36219937C>G g.36219940C>G V572L - GNE_000067 - PubMed: Tomimitsu 2004, OMIM:var0013 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - MPD - - sib of 15136692-Pat05 F - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.1807g>c p.Val603Leu Parent #1 - pathogenic g.36219937C>G g.36219940C>G V572L - GNE_000067 - PubMed: Tomimitsu 2004, OMIM:var0013 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - MPD - - sib of 15136692-Pat04 F - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.1807g>c p.Val603Leu Parent #1 - pathogenic g.36219937C>G g.36219940C>G V572L - GNE_000067 - PubMed: Tomimitsu 2004, OMIM:var0013 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - MPD - - - M - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.1807g>c p.Val603Leu Parent #1 - pathogenic g.36219937C>G g.36219940C>G V572L - GNE_000067 - PubMed: Tomimitsu 2004, OMIM:var0013 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MPD - - - M - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.1807g>c p.Val603Leu Parent #1 - pathogenic g.36219937C>G g.36219940C>G V572L - GNE_000067 - PubMed: Tomimitsu 2004, OMIM:var0013 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MPD - - - F - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.1807g>c p.Val603Leu Parent #1 - pathogenic g.36219937C>G g.36219940C>G V572L - GNE_000067 - PubMed: Tomimitsu 2004, OMIM:var0013 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MPD - - - M - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.1807g>c p.Val603Leu Parent #1 - pathogenic g.36219937C>G g.36219940C>G V572L - GNE_000067 - PubMed: Tomimitsu 2004, OMIM:var0013 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MPD - - - F - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #1 - pathogenic g.36219937C>G g.36219940C>G V572L - GNE_000067 - PubMed: Kim 2006, OMIM:var0013 - - Germline - - - - - DNA PCR, SEQ - - MPD - - - F - Korea - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #1 - pathogenic g.36219937C>G g.36219940C>G V572L - GNE_000067 - PubMed: Kim 2006, OMIM:var0013 - - Germline - - - - - DNA PCR, SEQ - - MPD - - - F - Korea - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #2 - pathogenic g.36219937C>G g.36219940C>G V572L - GNE_000067 - PubMed: Kim 2006, OMIM:var0013 - - Germline - - - - - DNA PCR, SEQ - - MPD - - - F - Korea - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #1 - pathogenic g.36219937C>G g.36219940C>G V572L - GNE_000067 - PubMed: Kim 2006, OMIM:var0013 - - Germline - - - - - DNA PCR, SEQ - - MPD - - - M - Korea - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #1 - pathogenic g.36219937C>G g.36219940C>G V572L - GNE_000067 - PubMed: Kim 2006, OMIM:var0013 - - Germline - - - - - DNA PCR, SEQ - - MPD - - - M - Korea - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #1 - pathogenic g.36219937C>G g.36219940C>G V572L - GNE_000067 - PubMed: Kim 2006, OMIM:var0013 - - Germline - - - - - DNA PCR, SEQ - - MPD - - - F - Korea - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #1 - pathogenic g.36219937C>G g.36219940C>G G>C (V572L) - GNE_000067 shared haplotype PubMed: Arai 2004, OMIM:var0013 - - Germline yes - - - - DNA PCR, SEQ - - MPD - - family, 2 affecteds, consanguineous parent - yes Japan - - - - - 2 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #1 - pathogenic g.36219937C>G g.36219940C>G G>C (V572L) - GNE_000067 shared haplotype PubMed: Arai 2004, OMIM:var0013 - - Germline yes - - - - DNA PCR, SEQ - - MPD - - consanguineous parents - yes Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #1 - pathogenic g.36219937C>G g.36219940C>G G>C (V572L) - GNE_000067 shared haplotype PubMed: Arai 2004, OMIM:var0013 - - Germline yes - - - - DNA PCR, SEQ - - MPD - - consanguineous parents - yes Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #1 - pathogenic g.36219937C>G g.36219940C>G G>C (V572L) - GNE_000067 shared haplotype PubMed: Arai 2004, OMIM:var0013 - - Germline yes - - - - DNA PCR, SEQ - - MPD - - consanguineous parents - yes Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #1 - pathogenic g.36219937C>G g.36219940C>G G>C (V572L) - GNE_000067 shared haplotype PubMed: Arai 2004, OMIM:var0013 - - Germline yes - - - - DNA PCR, SEQ - - MPD - - consanguineous parents - yes Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #1 - pathogenic g.36219937C>G g.36219940C>G G>C (V572L) - GNE_000067 shared haplotype PubMed: Arai 2004, OMIM:var0013 - - Germline yes - - - - DNA PCR, SEQ - - MPD - - family, 2 affecteds, consanguineous parent - yes Japan - - - - - 2 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #2 - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Nishino 2002 - - Germline - - - - - DNA PCR, SEQ - - MPD - - - - - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #1 - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Nishino 2002 - - Germline - - - - - DNA PCR, SEQ - - MPD - - - - - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #1 - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Nishino 2002 - - Germline - - - - - DNA PCR, SEQ - - MPD - - - - - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #2 - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Nishino 2002 - - Germline - - - - - DNA PCR, SEQ - - MPD - - - - - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #1 - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Nishino 2002 - - Germline - - - - - DNA PCR, SEQ - - MPD - - - - - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #1 - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Nishino 2002 - - Germline - - - - - DNA PCR, SEQ - - MPD - - - - - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #1 - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Nishino 2002 - - Germline - - - - - DNA PCR, SEQ - - MPD - - - - - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #1 - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Nishino 2002 - - Germline - - - - - DNA PCR, SEQ - - MPD - - - - - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #2 - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Nishino 2002 - - Germline - - - - - DNA PCR, SEQ - - MPD - - - - - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #1 - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Nishino 2002 - - Germline - - - - - DNA PCR, SEQ - - MPD - - - - - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #1 - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Nishino 2002 - - Germline - - - - - DNA PCR, SEQ - - MPD - - - - - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #1 - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Nishino 2002 - - Germline - - - - - DNA PCR, SEQ - - MPD - - - - - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #1 - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Nishino 2002 - - Germline - - - - - DNA PCR, SEQ - - MPD - - - - - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #1 - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Nishino 2002 - - Germline - - - - - DNA PCR, SEQ - - MPD - - - - - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #1 - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Nishino 2002 - - Germline - - - - - DNA PCR, SEQ - - MPD - - - - - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #1 - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Nishino 2002 - - Germline - - - - - DNA PCR, SEQ - - MPD - - - - - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #1 - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Nishino 2002 - - Germline - - - - - DNA PCR, SEQ - - MPD - - - - - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #2 - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Nishino 2002 - - Germline - - - - - DNA PCR, SEQ - - MPD - - - - - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #2 - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Nishino 2002 - - Germline - - - - - DNA PCR, SEQ - - MPD - - - - - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Maternal (confirmed) - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Kayashima 2002, PubMed: Eisenberg 2003 - - Germline - - - - - DNA PCR, SEQ - - NM;IBM2 - - 2-generation family, 2 affected males M - Japan - >33y - - - 2 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Paternal (confirmed) - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Tomimitsu 2002, PubMed: Eisenberg 2003, OMIM:var0013 - - Germline - - - - - DNA PCR, SEQ - - NM;IBM2 - - - M - Japan - - - - - 2 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Maternal (confirmed) - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Tomimitsu 2002, PubMed: Eisenberg 2003, OMIM:var0013 - - Germline yes - - - - DNA PCR, SEQ - - NM;IBM2 - - - F - Japan - - - - - 2 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Maternal (confirmed) - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Tomimitsu 2002, PubMed: Eisenberg 2003, OMIM:var0013 - - Germline yes - - - - DNA PCR, SEQ - - NM;IBM2 - - - M - Japan - - - - - 2 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Maternal (confirmed) - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Tomimitsu 2002, PubMed: Eisenberg 2003, OMIM:var0013 - - Germline yes - - - - DNA PCR, SEQ - - NM;IBM2 - - - F - Japan - - - - - 2 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Maternal (confirmed) - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Tomimitsu 2002, PubMed: Eisenberg 2003, OMIM:var0013 - - Germline yes - - - - DNA PCR, SEQ - - NM;IBM2 - - - F - Japan - - - - - 2 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Maternal (confirmed) - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Tomimitsu 2002, PubMed: Eisenberg 2003, OMIM:var0013 - - Germline yes - - - - DNA PCR, SEQ - - NM;IBM2 - - - F - Japan - - - - - 2 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Maternal (confirmed) - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Tomimitsu 2002, PubMed: Eisenberg 2003, OMIM:var0013 - - Germline yes - - - - DNA PCR, SEQ - - NM;IBM2 - - - M - Japan - - - - - 2 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Maternal (confirmed) - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Kayashima 2002, PubMed: Eisenberg 2003, OMIM:var0013 - - Germline - - - - - DNA PCR, SEQ - - NM;IBM2 - - 2-generation family, 2 affected males M - Japan - >32y - - - 2 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Maternal (inferred) - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Tomimitsu 2002 - - Germline yes - - - - DNA PCR, SEQ - - MPD - - - F - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #1 - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Yabe 2003 - - Germline - - - - - DNA PCR, SEQ - - MPD - - 2-generation family, 2 affected males M - Japan - - - - - 2 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #1 - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Yabe 2003 - - Germline - - - - - DNA PCR, SEQ - - MPD - - 2-generation family, 2 affected males M - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.1807g>c p.Val603Leu Parent #2 - pathogenic g.36219937C>G g.36219940C>G V572L - GNE_000067 - PubMed: Tomimitsu 2004, OMIM:var0013 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - MPD - - - F - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.1807g>c p.Val603Leu Parent #2 - pathogenic g.36219937C>G g.36219940C>G V572L - GNE_000067 - PubMed: Tomimitsu 2004, OMIM:var0013 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - MPD - - - M - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.1807g>c p.Val603Leu Parent #2 - pathogenic g.36219937C>G g.36219940C>G V572L - GNE_000067 - PubMed: Tomimitsu 2004, OMIM:var0013 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - MPD - - - F - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.1807g>c p.Val603Leu Parent #2 - pathogenic g.36219937C>G g.36219940C>G V572L - GNE_000067 - PubMed: Tomimitsu 2004, OMIM:var0013 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - MPD - - sib of 15136692-Pat05 F - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.1807g>c p.Val603Leu Parent #2 - pathogenic g.36219937C>G g.36219940C>G V572L - GNE_000067 - PubMed: Tomimitsu 2004, OMIM:var0013 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - MPD - - sib of 15136692-Pat04 F - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.1807g>c p.Val603Leu Parent #2 - pathogenic g.36219937C>G g.36219940C>G V572L - GNE_000067 - PubMed: Tomimitsu 2004, OMIM:var0013 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - MPD - - - M - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.1807g>c p.Val603Leu Parent #1 - pathogenic g.36219937C>G g.36219940C>G V572L - GNE_000067 - PubMed: Tomimitsu 2004, OMIM:var0013 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - MPD - - - M - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.1807g>c p.Val603Leu Parent #1 - pathogenic g.36219937C>G g.36219940C>G V572L - GNE_000067 - PubMed: Tomimitsu 2004, OMIM:var0013 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - MPD - - - M - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.1807g>c p.Val603Leu Parent #2 - pathogenic g.36219937C>G g.36219940C>G V572L - GNE_000067 - PubMed: Tomimitsu 2004, OMIM:var0013 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MPD - - - M - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.1807g>c p.Val603Leu Parent #2 - pathogenic g.36219937C>G g.36219940C>G V572L - GNE_000067 - PubMed: Tomimitsu 2004, OMIM:var0013 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MPD - - - F - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.1807g>c p.Val603Leu Parent #2 - pathogenic g.36219937C>G g.36219940C>G V572L - GNE_000067 - PubMed: Tomimitsu 2004, OMIM:var0013 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MPD - - - M - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.1807g>c p.Val603Leu Parent #1 - pathogenic g.36219937C>G g.36219940C>G V572L - GNE_000067 - PubMed: Tomimitsu 2004, OMIM:var0013 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MPD - - - F - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.1807g>c p.Val603Leu Parent #1 - pathogenic g.36219937C>G g.36219940C>G V572L - GNE_000067 - PubMed: Tomimitsu 2004, OMIM:var0013 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MPD - - - M - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.1807g>c p.Val603Leu Parent #1 - pathogenic g.36219937C>G g.36219940C>G V572L - GNE_000067 - PubMed: Tomimitsu 2004, OMIM:var0013 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MPD - - - F - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #2 - pathogenic g.36219937C>G g.36219940C>G V572L - GNE_000067 - PubMed: Kim 2006, OMIM:var0013 - - Germline - - - - - DNA PCR, SEQ - - MPD - - - F - Korea - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #2 - pathogenic g.36219937C>G g.36219940C>G V572L - GNE_000067 - PubMed: Kim 2006, OMIM:var0013 - - Germline - - - - - DNA PCR, SEQ - - MPD - - - F - Korea - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #2 - pathogenic g.36219937C>G g.36219940C>G V572L - GNE_000067 - PubMed: Kim 2006, OMIM:var0013 - - Germline - - - - - DNA PCR, SEQ - - MPD - - - M - Korea - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #2 - pathogenic g.36219937C>G g.36219940C>G V572L - GNE_000067 - PubMed: Kim 2006, OMIM:var0013 - - Germline - - - - - DNA PCR, SEQ - - MPD - - - M - Korea - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #2 - pathogenic g.36219937C>G g.36219940C>G V572L - GNE_000067 - PubMed: Kim 2006, OMIM:var0013 - - Germline - - - - - DNA PCR, SEQ - - MPD - - - F - Korea - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #2 - pathogenic g.36219937C>G g.36219940C>G G>C (V572L) - GNE_000067 shared haplotype PubMed: Arai 2004, OMIM:var0013 - - Germline yes - - - - DNA PCR, SEQ - - MPD - - family, 2 affecteds, consanguineous parent - yes Japan - - - - - 2 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #2 - pathogenic g.36219937C>G g.36219940C>G G>C (V572L) - GNE_000067 shared haplotype PubMed: Arai 2004, OMIM:var0013 - - Germline yes - - - - DNA PCR, SEQ - - MPD - - consanguineous parents - yes Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #2 - pathogenic g.36219937C>G g.36219940C>G G>C (V572L) - GNE_000067 shared haplotype PubMed: Arai 2004, OMIM:var0013 - - Germline yes - - - - DNA PCR, SEQ - - MPD - - consanguineous parents - yes Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #2 - pathogenic g.36219937C>G g.36219940C>G G>C (V572L) - GNE_000067 shared haplotype PubMed: Arai 2004, OMIM:var0013 - - Germline yes - - - - DNA PCR, SEQ - - MPD - - consanguineous parents - yes Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #2 - pathogenic g.36219937C>G g.36219940C>G G>C (V572L) - GNE_000067 shared haplotype PubMed: Arai 2004, OMIM:var0013 - - Germline yes - - - - DNA PCR, SEQ - - MPD - - consanguineous parents - yes Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #2 - pathogenic g.36219937C>G g.36219940C>G G>C (V572L) - GNE_000067 shared haplotype PubMed: Arai 2004, OMIM:var0013 - - Germline yes - - - - DNA PCR, SEQ - - MPD - - family, 2 affecteds, consanguineous parent - yes Japan - - - - - 2 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #2 - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Nishino 2002 - - Germline - - - - - DNA PCR, SEQ - - MPD - - - - - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #2 - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Nishino 2002 - - Germline - - - - - DNA PCR, SEQ - - MPD - - - - - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #2 - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Nishino 2002 - - Germline - - - - - DNA PCR, SEQ - - MPD - - - - - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #2 - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Nishino 2002 - - Germline - - - - - DNA PCR, SEQ - - MPD - - - - - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #2 - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Nishino 2002 - - Germline - - - - - DNA PCR, SEQ - - MPD - - - - - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #2 - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Nishino 2002 - - Germline - - - - - DNA PCR, SEQ - - MPD - - - - - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #2 - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Nishino 2002 - - Germline - - - - - DNA PCR, SEQ - - MPD - - - - - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #2 - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Nishino 2002 - - Germline - - - - - DNA PCR, SEQ - - MPD - - - - - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #2 - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Nishino 2002 - - Germline - - - - - DNA PCR, SEQ - - MPD - - - - - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #2 - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Nishino 2002 - - Germline - - - - - DNA PCR, SEQ - - MPD - - - - - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #2 - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Nishino 2002 - - Germline - - - - - DNA PCR, SEQ - - MPD - - - - - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #2 - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Nishino 2002 - - Germline - - - - - DNA PCR, SEQ - - MPD - - - - - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #2 - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Nishino 2002 - - Germline - - - - - DNA PCR, SEQ - - MPD - - - - - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #2 - pathogenic g.36219937C>G g.36219940C>G 1765G>C (V572L) - GNE_000067 - PubMed: Nishino 2002 - - Germline - - - - - DNA PCR, SEQ - - MPD - - - - - Japan - - - - - 1 Johan den Dunnen
+/. 10 c.1807G>C r.(?) p.(Val603Leu) Parent #1 - pathogenic g.36219937C>G g.36219940C>G - - GNE_000067 - PubMed: Izumi 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NM;IBM2 25257349-FamPat1 PubMed: Izumi 2014 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents M no Japan - - - - - 2 Johan den Dunnen
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