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.

115 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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