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.

103 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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