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.

109 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     
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G 2186T>C (M712T) - GNE_000004 not in 306 control chromosomes (non Middle East) PubMed: Eisenberg 2001, OMIM:var0005 - rs28937594 Germline yes - NlaIII- - - DNA PCR, SEQ - - IBM2 - - 3-generation family, 6 affecteds (4F, 2M) - - Iran Jewish - - - - 6 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G 2186T>C (M712T) - GNE_000004 not in 306 control chromosomes (non Middle East) PubMed: Eisenberg 2001, PubMed: Argov 2001, OMIM:var0005 - rs28937594 Germline yes - NlaIII- - - DNA PCR, SEQ - - IBM2 - - 49 families, 118 affecteds - - - Middle East;Jewish - - - - 118 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Unknown - pathogenic g.36217396A>G g.36217399A>G 2186T>C (M712T) - GNE_000004 5/146 control chromosomes Iran PubMed: Eisenberg 2001, OMIM:var0005 - rs28937594 Germline - 5/146 NlaIII- - - DNA PCR, SEQ - - Healthy/Control - - - - - Iran Jewish - - - - 5 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G 2186T>C (M712T) - GNE_000004 not in 306 control chromosomes (non Middle East) PubMed: Eisenberg 2001, PubMed: Eisenberg 2003, OMIM:var0005 - rs28937594 Germline yes - NlaIII- - - DNA PCR, SEQ - - IBM2 - - - - - Iraq Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G 2186T>C (M712T) - GNE_000004 not in 306 control chromosomes (non Middle East) PubMed: Eisenberg 2001, PubMed: Eisenberg 2003, OMIM:var0005 - rs28937594 Germline yes - NlaIII- - - DNA PCR, SEQ - - IBM2 - - - - - Afghanistan Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G 2186T>C (M712T) - GNE_000004 not in 306 control chromosomes (non Middle East) PubMed: Eisenberg 2001, PubMed: Eisenberg 2003, OMIM:var0005 - rs28937594 Germline yes - NlaIII- - - DNA PCR, SEQ - - IBM2 - - - - - Uzbekistan Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G 2186T>C (M712T) - GNE_000004 not in 306 control chromosomes (non Middle East) PubMed: Eisenberg 2001, PubMed: Eisenberg 2003, OMIM:var0005 - rs28937594 Germline yes - NlaIII- - - DNA PCR, SEQ - - IBM2 - - - - - Egypt Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G 2186T>C (M712T) - GNE_000004 not in 306 control chromosomes (non Middle East) PubMed: Eisenberg 2001, PubMed: Eisenberg 2003, OMIM:var0005 - rs28937594 Germline yes - NlaIII- - - DNA PCR, SEQ - - IBM2 - - - - - - Middle East, Kurdish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G 2186T>C (M712T) - GNE_000004 not in 306 control chromosomes (non Middle East) PubMed: Eisenberg 2003 - rs28937594 Germline yes - NlaIII- - - DNA PCR, SEQ - - IBM2 - - family, 3 affecteds - - - Middle East, Bedouin - - - - 3 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G 2186T>C (M712T) - GNE_000004 not in 306 control chromosomes (non Middle East) PubMed: Eisenberg 2003 - rs28937594 Germline yes - NlaIII- - - DNA PCR, SEQ - - IBM2 - - family, 2 affecteds - - Palestine Middle East, Palestinian - - - - 3 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G 2186T>C (M712T) - GNE_000004 - PubMed: Darvish 2002 - rs28937594 Germline yes - NlaIII- - - DNA PCR, SEQ - - IBM2 - - 2-generation family, 1 affected ? - (United States) Iran - - - - 2 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G 2186T>C (M712T) - GNE_000004 - PubMed: Darvish 2002 - rs28937594 Germline yes - NlaIII- - - DNA PCR, SEQ - - IBM2 - - 2-generation family, 1 affected ? - (United States) Iran - - - - 2 Johan den Dunnen
-?/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - likely benign g.36217396A>G g.36217399A>G 2186T>C (M712T) - GNE_000004 - PubMed: Argov 2001, OMIM:var0005 - rs28937594 Germline yes - NlaIII- - - DNA PCR, SEQ - - Healthy/Control - - 5 clinically unaffected cases (5 families) - - - Middle East;Jewish - - - - 5 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G 2186T>C (M712T) - GNE_000004 - PubMed: Broccolini 2002, OMIM:var0005 - rs28937594 Germline - - NlaIII- - - DNA PCR, SEQ - - IBM2 - - 4-generation family, 2 affected females F - Italy - - - - - 2 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G 2186T>C (M712T) - GNE_000004 - PubMed: Amouri 2005 - rs28937594 Germline - - - - - DNA PCR, SEQ - - IBM2 - - 4-generation family, 4 affecteds F - Tunisia Tunisian - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G 2186T>C (M712T) - GNE_000004 - PubMed: Amouri 2005 - rs28937594 Germline - - - - - DNA PCR, SEQ - - IBM2 - - 4-generation family, 4 affecteds F - Tunisia Tunisian - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G 2186T>C (M712T) - GNE_000004 - PubMed: Amouri 2005 - rs28937594 Germline - - - - - DNA PCR, SEQ - - IBM2 - - 4-generation family, 4 affecteds F - Tunisia Tunisian - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G 2186T>C (M712T) - GNE_000004 - PubMed: Amouri 2005 - rs28937594 Germline - - - - - DNA PCR, SEQ - - IBM2 - - 4-generation family, 4 affecteds M - Tunisia Tunisian - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G 2186T>C (M712T) - GNE_000004 - PubMed: Grandis 2010 - rs28937594 Germline yes - - - - DNA PCR, SEQ - - IBM2 - - consanguineous parents, 1st cousins F yes Egypt - >29y - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? United States - - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G 2186T>C (M712T) - GNE_000004 not in 306 control chromosomes (non Middle East) PubMed: Eisenberg 2001, OMIM:var0005 - rs28937594 Germline yes - NlaIII- - - DNA PCR, SEQ - - IBM2 - - 3-generation family, 6 affecteds (4F, 2M) - - Iran Jewish - - - - 6 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G 2186T>C (M712T) - GNE_000004 not in 306 control chromosomes (non Middle East) PubMed: Eisenberg 2001, PubMed: Argov 2001, OMIM:var0005 - rs28937594 Germline yes - NlaIII- - - DNA PCR, SEQ - - IBM2 - - 49 families, 118 affecteds - - - Middle East;Jewish - - - - 118 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G 2186T>C (M712T) - GNE_000004 not in 306 control chromosomes (non Middle East) PubMed: Eisenberg 2001, PubMed: Eisenberg 2003, OMIM:var0005 - rs28937594 Germline yes - NlaIII- - - DNA PCR, SEQ - - IBM2 - - - - - Iraq Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G 2186T>C (M712T) - GNE_000004 not in 306 control chromosomes (non Middle East) PubMed: Eisenberg 2001, PubMed: Eisenberg 2003, OMIM:var0005 - rs28937594 Germline yes - NlaIII- - - DNA PCR, SEQ - - IBM2 - - - - - Afghanistan Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G 2186T>C (M712T) - GNE_000004 not in 306 control chromosomes (non Middle East) PubMed: Eisenberg 2001, PubMed: Eisenberg 2003, OMIM:var0005 - rs28937594 Germline yes - NlaIII- - - DNA PCR, SEQ - - IBM2 - - - - - Uzbekistan Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G 2186T>C (M712T) - GNE_000004 not in 306 control chromosomes (non Middle East) PubMed: Eisenberg 2001, PubMed: Eisenberg 2003, OMIM:var0005 - rs28937594 Germline yes - NlaIII- - - DNA PCR, SEQ - - IBM2 - - - - - Egypt Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G 2186T>C (M712T) - GNE_000004 not in 306 control chromosomes (non Middle East) PubMed: Eisenberg 2001, PubMed: Eisenberg 2003, OMIM:var0005 - rs28937594 Germline yes - NlaIII- - - DNA PCR, SEQ - - IBM2 - - - - - - Middle East, Kurdish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G 2186T>C (M712T) - GNE_000004 not in 306 control chromosomes (non Middle East) PubMed: Eisenberg 2003 - rs28937594 Germline yes - NlaIII- - - DNA PCR, SEQ - - IBM2 - - family, 3 affecteds - - - Middle East, Bedouin - - - - 3 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G 2186T>C (M712T) - GNE_000004 not in 306 control chromosomes (non Middle East) PubMed: Eisenberg 2003 - rs28937594 Germline yes - NlaIII- - - DNA PCR, SEQ - - IBM2 - - family, 2 affecteds - - Palestine Middle East, Palestinian - - - - 3 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G 2186T>C (M712T) - GNE_000004 - PubMed: Darvish 2002 - rs28937594 Germline yes - NlaIII- - - DNA PCR, SEQ - - IBM2 - - 2-generation family, 1 affected ? - (United States) Iran - - - - 2 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G 2186T>C (M712T) - GNE_000004 - PubMed: Darvish 2002 - rs28937594 Germline yes - NlaIII- - - DNA PCR, SEQ - - IBM2 - - 2-generation family, 1 affected ? - (United States) Iran - - - - 2 Johan den Dunnen
-?/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - likely benign g.36217396A>G g.36217399A>G 2186T>C (M712T) - GNE_000004 - PubMed: Argov 2001, OMIM:var0005 - rs28937594 Germline yes - NlaIII- - - DNA PCR, SEQ - - Healthy/Control - - 5 clinically unaffected cases (5 families) - - - Middle East;Jewish - - - - 5 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G 2186T>C (M712T) - GNE_000004 - PubMed: Broccolini 2002, OMIM:var0005 - rs28937594 Germline - - NlaIII- - - DNA PCR, SEQ - - IBM2 - - 4-generation family, 2 affected females F - Italy - - - - - 2 Johan den Dunnen
+/. 12 c.2228T>C r.2228u>c p.Met743Thr Parent #2 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Tomimitsu 2004, OMIM:var0005 - rs28937594 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - NM;IBM2 - - - M - Japan - - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G 2186T>C (M712T) - GNE_000004 - PubMed: Amouri 2005 - rs28937594 Germline - - - - - DNA PCR, SEQ - - IBM2 - - 4-generation family, 4 affecteds F - Tunisia Tunisian - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G 2186T>C (M712T) - GNE_000004 - PubMed: Amouri 2005 - rs28937594 Germline - - - - - DNA PCR, SEQ - - IBM2 - - 4-generation family, 4 affecteds F - Tunisia Tunisian - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G 2186T>C (M712T) - GNE_000004 - PubMed: Amouri 2005 - rs28937594 Germline - - - - - DNA PCR, SEQ - - IBM2 - - 4-generation family, 4 affecteds F - Tunisia Tunisian - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G 2186T>C (M712T) - GNE_000004 - PubMed: Amouri 2005 - rs28937594 Germline - - - - - DNA PCR, SEQ - - IBM2 - - 4-generation family, 4 affecteds M - Tunisia Tunisian - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G 2186T>C (M712T) - GNE_000004 - PubMed: Grandis 2010 - rs28937594 Germline yes - - - - DNA PCR, SEQ - - IBM2 - - consanguineous parents, 1st cousins F yes Egypt - >29y - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? (United States) Iran;Jewish - - - - 1 Johan den Dunnen
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #2 - pathogenic g.36217396A>G g.36217399A>G M712T - GNE_000004 - PubMed: Gotlieb 2005 - rs28937594 Germline yes - - - - DNA SEQ - - IBM - - - - ? United States - - - - - 1 Johan den Dunnen
+/. - c.2228T>C r.(?) p.(Met743Thr) Unknown - pathogenic g.36217396A>G g.36217399A>G - - GNE_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Parent #1 - pathogenic g.36217396A>G g.36217399A>G - - GNE_000004 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Both (homozygous) - pathogenic g.36217396A>G g.36217399A>G - - GNE_000004 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 12 c.2228T>C r.(?) p.(Met743Thr) Both (homozygous) - pathogenic g.36217396A>G g.36217399A>G - - GNE_000004 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
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