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.

645 entries on 7 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     
+/. 7 c.? r.(?) p.? Parent #1 - pathogenic g.? - 1132G>T (D378Y) - PTCH1_000000 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. _1_3i c.-35077_710-2769del r.0 p.0 Parent #2 - pathogenic g.36239759_36312027del g.36239762_36312030del - - GNE_000118 - PubMed: Zhu 2017 - - Germline - - - 0 - DNA, RNA PCR, RT-PCR, SEQ, SEQ-NG - WGS MPD 27829678-Pat7 PubMed: Zhu 2017 2-generation family, 1 affected, unaffected parents M - Japan - - 0 - - 1 Johan den Dunnen
+/. _1_8i c.(?_-112)_(1726+1_1727-1)del r.0? p.0? Paternal (confirmed) - pathogenic g.(36220018_36222773)_(36277053_?)del - - - GNE_000011 >35.7 Kb deletion (exons 1-9); exon 13 not from GNE gene PubMed: Del Bo 2003 - - Germline - - - 0 - DNA Southern, PCR, SEQ - - IBM-2 - - 2-generation family, 2 affected females F - Italy - >33y 0 - - 2 Johan den Dunnen
+/. _1_8i c.(?_-112)_(1726+1_1727-1)del r.0? p.0? Paternal (confirmed) - pathogenic g.(36220018_36222773)_(36277053_?)del - - - GNE_000011 >35.7 Kb deletion (exons 1-9); exon 13 not from GNE gene PubMed: Del Bo 2003 - - Germline - - - 0 - DNA Southern, PCR, SEQ - - IBM-2 - - 2-generation family, 2 affected females F - Italy - >28y 0 - - 1 Johan den Dunnen
?/. 1 c.-65C>A r.(=) p.(=) Parent #1 - VUS g.36277006G>T g.36277009G>T NM_001190388.1:34C>A (P12T) - GNE_000126 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 5' UTR c.-10G>A r.(?) p.(=) Parent #1 - VUS g.36276951C>T g.36276954C>T - - GNE_000175 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 5' UTR c.-4C>T r.(?) p.(=) Parent #1 - VUS g.36276945G>A g.36276948G>A - - GNE_000129 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 1 c.-4C>T r.(=) p.(=) Parent #1 - VUS g.36276945G>A g.36276948G>A NM_001190388.1:95C>T (S32L) - GNE_000129 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 5' UTR c.-3G>A r.(?) p.(=) Parent #1 - VUS g.36276944C>T g.36276947C>T - - GNE_000174 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 1 c.43G>C r.(?) p.(Gly15Arg) Parent #1 - VUS g.36276899C>G g.36276902C>G - - GNE_000173 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 1i c.51+7981_52-8189del r.? p.? Parent #2 - pathogenic g.36257594_36268921del g.36257597_36268924del - - GNE_000113 mRNA expression reduced to 0.50 PubMed: Garland 2017 - - Germline yes - - 0 - DNA, RNA RT-PCR, SEQ - - MPD 28717665-Pat1/2 PubMed: Garland 2017 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M no India - - 0 - - 2 Johan den Dunnen
+/. 1i c.51+9423_52-8182del r.0 p.0 Parent #2 - pathogenic g.36257583_36267475del g.36257586_36267478del - - GNE_000116 - PubMed: Zhu 2017 - - Germline - - - 0 - DNA, RNA PCR, RT-PCR, SEQ, SEQ-NG - - MPD 27829678-Pat4 PubMed: Zhu 2017 2-generation family, 1 affected, unaffected parents M - Bangladesh - - 0 - - 1 Johan den Dunnen
+/. 1i c.51+9423_52-8182del r.0 p.0 Parent #2 - pathogenic g.36257583_36267475del g.36257586_36267478del - - GNE_000116 - PubMed: Zhu 2017 - - Germline - - - 0 - DNA, RNA PCR, RT-PCR, SEQ, SEQ-NG - - MPD 27829678-Pat5 PubMed: Zhu 2017 2-generation family, 1 affected, unaffected parents M - India - - 0 - - 1 Johan den Dunnen
+/. 1i c.51+10408_52-10008del r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.36259402_36266483del g.36259405_36266486del - - GNE_000179 7.082 kb deletion PubMed: Chakravorty 2019 - - Germline - - - 0 - DNA, RNA arrayCGH, RT-PCR, SEQ - - MYOP patient PubMed: Chakravorty 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M no United States India;Guyan - 0 - - 1 Johan den Dunnen
+/. 1i c.52-12264_52-8148del r.0? p.0? Parent #2 - pathogenic g.36257571_36261687del g.36257574_36261690del - - GNE_000121 - PubMed: Zhu 2017 - - Germline - - - 0 - DNA PCR, SEQ, SEQ-NG - - MPD 27829678-Pat11 PubMed: Zhu 2017 2-generation family, 1 affected, unaffected parents F - Japan - - 0 - - 1 Johan den Dunnen
+/. 1i c.52-11451_52-447del r.0? p.0? Parent #2 - pathogenic g.36249843_36260847del g.36249846_36260850del - - GNE_000115 - PubMed: Zhu 2017 - - Germline - - - 0 - DNA PCR, SEQ, SEQ-NG - - MPD 27829678-Pat1 PubMed: Zhu 2017 2-generation family, 1 affected, unaffected parents M - Japan - - 0 - - 1 Johan den Dunnen
+/. 1i c.52-11451_52-447del r.0 p.0 Parent #2 - pathogenic g.36249843_36260847del g.36249846_36260850del - - GNE_000115 no detectable transcript PubMed: Zhu 2017 - - Germline yes - - 0 - DNA, RNA PCR, RT-PCR, SEQ, SEQ-NG - - MPD 27829678-Pat2 PubMed: Zhu 2017 2-generation family, 2 affected sibs, unaffected parents M - Japan - - 0 - - 2 Johan den Dunnen
+/. 1i c.52-11451_52-447del r.0 p.0 Parent #2 - pathogenic g.36249843_36260847del g.36249846_36260850del - - GNE_000115 - PubMed: Zhu 2017 - - Germline yes - - 0 - DNA, RNA PCR, RT-PCR, SEQ, SEQ-NG - - MPD 27829678-Pat3 PubMed: Zhu 2017 sib2 F - Japan - - 0 - - 1 Johan den Dunnen
+/. 1i c.52-11451_52-447del r.0 p.0 Parent #2 - pathogenic g.36249843_36260847del g.36249846_36260850del - - GNE_000115 - PubMed: Zhu 2017 - - Germline - - - 0 - DNA, RNA PCR, RT-PCR, SEQ, SEQ-NG - - MPD 27829678-Pat10 PubMed: Zhu 2017 2-generation family, 1 affected, unaffected parents M - Japan - - 0 - - 1 Johan den Dunnen
+/. 1i_5i c.52-8128_1075+531del r.0 p.0 Parent #1 - pathogenic g.36233459_36257595del g.36233462_36257598del - - GNE_000120 - PubMed: Zhu 2017 - - Germline - - - 0 - DNA, RNA PCR, RT-PCR, SEQ, SEQ-NG - - MPD 27829678-Pat9 PubMed: Zhu 2017 2-generation family, 1 affected, unaffected parents F - Japan - - 0 - - 1 Johan den Dunnen
+/. 1i_2i c.52-4733_257+1241del r.0? p.0? Parent #2 - pathogenic g.36247950_36254129del g.36247953_36254132del - - GNE_000117 - PubMed: Zhu 2017 - - Germline - - - 0 - DNA PCR, SEQ, SEQ-NG - - MPD 27829678-Pat6 PubMed: Zhu 2017 2-generation family, 1 affected, unaffected parents F - Japan - - 0 - - 1 Johan den Dunnen
+/. 1i_3i c.52-3652_709+469dup r.52_709dup p.? Parent #2 - pathogenic g.36245582_36253069dup g.36245585_36253072dup - - GNE_000119 two breakpoints found, somatic mosaicism PubMed: Zhu 2017 - - Germline - - - 0 - DNA, RNA PCR, RT-PCR, SEQ, SEQ-NG - - MPD 27829678-Pat8 PubMed: Zhu 2017 2-generation family, 1 affected, unaffected parents M - Japan - - 0 - - 1 Johan den Dunnen
+/. 2 c.79C>T r.(?) p.(Arg27*) Parent #1 - pathogenic g.36249367G>A g.36249370G>A - - GNE_000172 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.97G>T r.(?) p.(Glu33*) Parent #1 - pathogenic g.36249349C>A g.36249352C>A - - GNE_000171 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.98A>G r.(?) p.(Glu33Gly) Parent #1 - pathogenic g.36249348T>C g.36249351T>C A>G (E2G) - GNE_000020 - PubMed: Saechao 2010 - - Germline - - - 0 - DNA PCR, SEQ - - IBM-2 - PubMed: Saechao 2010 - F - United States European - 0 - - 1 Johan den Dunnen
+/. 2 c.98A>G r.(?) p.(Glu33Gly) Parent #2 - pathogenic g.36249348T>C g.36249351T>C A>G (E2G) - GNE_000020 - PubMed: Saechao 2010 - - Germline - - - 0 - DNA PCR, SEQ - - IBM-2 - PubMed: Saechao 2010 - F - United States European - 0 - - 1 Johan den Dunnen
+/. 2 c.115C>T r.(?) p.(Arg39*) Parent #1 - pathogenic g.36249331G>A g.36249334G>A C>T (R8X) - GNE_000012 - PubMed: Saechao 2010 - - Germline - - - 0 - DNA PCR, SEQ - - IBM-2 - PubMed: Saechao 2010 - F - United States Caucasian - 0 - - 1 Johan den Dunnen
?/. 2 c.116G>A r.(?) p.(Arg39Gln) Parent #1 - VUS g.36249330C>T g.36249333C>T - - GNE_000170 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 2 c.124C>T r.(?) p.(Arg42Trp) Parent #1 - pathogenic g.36249322G>A g.36249325G>A R11W - GNE_000013 not in 100 control chromosomes PubMed: Huizing 2004 - - Germline - - - 0 - DNA PCR, SEQ - - IBM-2 - - - F - India Asian - 0 - - 1 Johan den Dunnen
+/. 2 c.131G>C r.(?) p.(Cys44Ser) Parent #1 - pathogenic g.36249315C>G g.36249318C>G 89G>C (C13S) - GNE_000014 - PubMed: Saito 2004 - - Germline - - - 0 - DNA PCR, SEQ - - MPD - - - M - Japan - >42y 0 - - 1 Johan den Dunnen
+/. 2 c.131G>C r.131g>c p.Cys44Ser Parent #2 - pathogenic g.36249315C>G g.36249318C>G C13S - GNE_000014 - PubMed: Tomimitsu 2004 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MPD - - - M - Japan - - 0 - - 1 Johan den Dunnen
+/. 2 c.131G>C r.131g>c p.Cys44Ser Parent #1 - pathogenic g.36249315C>G g.36249318C>G C13S - GNE_000014 - PubMed: Tomimitsu 2004 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MYOP - - - M - Japan - - 0 - - 1 Johan den Dunnen
+/. 2 c.131G>C r.(?) p.(Cys44Ser) Parent #1 - pathogenic g.36249315C>G g.36249318C>G C13S - GNE_000014 - PubMed: Kim 2006 - - Germline - - - 0 - DNA PCR, SEQ - - MPD - - - F - Korea - - 0 - - 1 Johan den Dunnen
+/. 2 c.131G>C r.(?) p.(Cys44Ser) Parent #1 - pathogenic g.36249315C>G g.36249318C>G C13S - GNE_000014 - PubMed: Kim 2006 - - Germline - - - 0 - DNA PCR, SEQ - - MPD - - - F - Korea - - 0 - - 1 Johan den Dunnen
+/. 2 c.131G>C r.(?) p.(Cys44Ser) Parent #1 - pathogenic g.36249315C>G g.36249318C>G - - GNE_000014 - PubMed: Liu 2015 - - Germline - - - 0 - DNA SEQ - - MPD 26053703-Pat1 PubMed: Liu 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China - - 0 - - 1 Johan den Dunnen
+/. 2 c.131G>C r.(?) p.(Cys44Ser) Both (homozygous) - pathogenic g.36249315C>G g.36249318C>G - - GNE_000014 - PubMed: Liu 2015 - - Germline - - - 0 - DNA SEQ - - MPD 26053703-Pat2 PubMed: Liu 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F no China - - 0 - - 1 Johan den Dunnen
+?/. - c.131G>C r.(?) p.(Cys44Ser) Parent #1 - likely pathogenic (recessive) g.36249315C>G g.36249318C>G - - GNE_000014 - PubMed: Park 2017 - - Germline - 1/209 cases - 0 - DNA SEQ, SEQ-NG - 69-gene panel muscular disorder MD Pat38 PubMed: Park 2017 - F - Korea - - 0 - - 1 Johan den Dunnen
+?/. - c.131G>C r.(?) p.(Cys44Ser) Parent #2 - likely pathogenic (recessive) g.36249315C>G g.36249318C>G - - GNE_000014 - PubMed: Park 2017 - - Germline - 1/209 cases - 0 - DNA SEQ, SEQ-NG - 69-gene panel muscular disorder MD Pat135 PubMed: Park 2017 - F - Korea - - 0 - - 1 Johan den Dunnen
+?/. - c.131G>C r.(?) p.(Cys44Ser) Unknown - likely pathogenic g.36249315C>G g.36249318C>G - - GNE_000014 two genetic etiologies PubMed: Park 2017 - - Germline - 1/209 cases - 0 - DNA SEQ, SEQ-NG - 69-gene panel muscular disorder MD Pat5 PubMed: Park 2017 - F - Korea - - 0 - - 1 Johan den Dunnen
+/. - c.131G>C r.(?) p.(Cys44Ser) Both (homozygous) - pathogenic (recessive) g.36249315C>G g.36249318C>G NM_005476.4:c.38G>C - GNE_000014 - PubMed: Yu 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - candidate 420-gene panel LGMD P65 PubMed: Yu 2017 analysis 180 LGMD patients F - China - - 0 - - 1 Johan den Dunnen
+?/. 2 c.146del r.(?) p.(Asn49Thrfs*33) Parent #1 - likely pathogenic g.36249301del g.36249304del - - GNE_000015 - - - - Germline - - - 0 - DNA PCR, SEQ - - MPD - - - F - Canada - - 0 - - 1 Tom Winder
+/. 2 c.172C>T r.(?) p.(Pro58Ser) Parent #1 - pathogenic g.36249274G>A g.36249277G>A 79C>T (P27S) - GNE_000016 - PubMed: Broccolini 2004 - - Germline - - - 0 - DNA PCR, SEQ - - IBM-2 - - - F - Italy - >42y 0 - - 1 Johan den Dunnen
+/. 2 c.172C>T r.(?) p.(Pro58Ser) Parent #2 - pathogenic g.36249274G>A g.36249277G>A 79C>T (P27S) - GNE_000016 - PubMed: Broccolini 2004 - - Germline - - - 0 - DNA PCR, SEQ - - IBM-2 - - - F - Italy - >42y 0 - - 1 Johan den Dunnen
+/. 2 c.173C>T r.(?) p.(Pro58Leu) Parent #1 - pathogenic g.36249273G>A g.36249276G>A 80C>T (Pro27Leu) - GNE_000125 unknown variant 2nd chromosome PubMed: Nalini 2013 - - Germline - - - 0 - DNA SEQ - - MPD 24005727-Pat9 PubMed: Nalini 2013 2-generation family, 1 affected, unaffected parents F - India - - 0 - - 1 Johan den Dunnen
+?/. - c.173C>T r.(?) p.(Pro58Leu) Unknown - likely pathogenic g.36249273G>A - GNE(NM_001128227.2):c.173C>T (p.(Pro58Leu)) - GNE_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.179T>C r.(?) p.(Met60Thr) Parent #2 - pathogenic g.36249267A>G g.36249270A>G M29T - GNE_000017 - PubMed: Kim 2006 - - Germline - - - 0 - DNA PCR, SEQ - - MPD - - - F - Korea - - 0 - - 1 Johan den Dunnen
+?/. - c.179T>C r.(?) p.(Met60Thr) Parent #1 - likely pathogenic (recessive) g.36249267A>G g.36249270A>G - - GNE_000017 - PubMed: Park 2017 - - Germline - 1/209 cases - 0 - DNA SEQ, SEQ-NG - 69-gene panel muscular disorder MD Pat26 PubMed: Park 2017 - F - Korea - - 0 - - 1 Johan den Dunnen
+/. 2 c.188_197dup r.(?) p.(Glu66Aspfs*2) Parent #1 - pathogenic g.36249250_36249259dup g.36249253_36249262dup dupTTAAAACCGA (fs*) - GNE_000018 - PubMed: Nishino 2002 - - Germline - - - 0 - DNA PCR, SEQ - - MPD - - - - - Japan - - 0 - - 1 Johan den Dunnen
+/. 2 c.200C>T r.(?) p.(Pro67Leu) Paternal (confirmed) - pathogenic g.36249246G>A g.36249249G>A 107C>T (P36L) - GNE_000019 - PubMed: Eisenberg 2003 - - Germline - - - 0 - DNA PCR, SEQ - - IBM-2 - - - - - Italy - - 0 - - 2 Johan den Dunnen
+/. 2i c.257+1G>A r.spl p.? Parent #1 - pathogenic g.36249188C>T g.36249191C>T - - GNE_000169 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 3 c.268C>T r.(?) p.(Arg90*) Parent #1 - pathogenic g.36246469G>A g.36246472G>A - - GNE_000168 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+?/. 3 c.271A>G r.(?) p.(Met91Val) Parent #1 - likely pathogenic g.36246466T>C g.36246469T>C - - GNE_000090 - PubMed: Celeste 2014, Journal: Celeste 2014 - - Unknown ? - - 0 - DNA PCR, SEQ - - MYOP - - - M no Portugal White (non-latino/hispanic) >35y 0 - - 1 Frank Celeste
?/. 3 c.300C>T r.(?) p.(=) Parent #1 - VUS g.36246437G>A g.36246440G>A - - GNE_000128 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 2 c.300C>T r.(=) p.(=) Parent #1 - VUS g.36246437G>A g.36246440G>A NM_001190388.1:192C>T (N64N) - GNE_000128 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 3 c.304A>T r.(?) p.(Arg102Trp) Parent #1 - pathogenic g.36246433T>A g.36246436T>A A>T (R71W) - GNE_000021 - PubMed: Saechao 2010 - - Germline - - - 0 - DNA PCR, SEQ - - IBM-2 - PubMed: Saechao 2010 - F - United States Caucasian - 0 - - 1 Johan den Dunnen
+/. 3 c.304A>T r.(?) p.(Arg102Trp) Parent #2 - pathogenic g.36246433T>A g.36246436T>A A>T (R71W) - GNE_000021 - PubMed: Saechao 2010 - - Germline - - - 0 - DNA PCR, SEQ - - IBM-2 - PubMed: Saechao 2010 - F - United States Caucasian - 0 - - 1 Johan den Dunnen
?/. 3 c.304A>T r.(?) p.(Arg102Trp) Parent #1 - VUS g.36246433T>A g.36246436T>A - - GNE_000021 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.304A>T r.(?) p.(Arg102Trp) Parent #1 - VUS g.36246433T>A g.36246436T>A - - GNE_000021 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.304A>T r.(?) p.(Arg102Trp) Both (homozygous) - VUS g.36246433T>A g.36246436T>A - - GNE_000021 variant apparently homozygous; no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. - c.350A>T r.(?) p.(Glu117Val) Both (homozygous) - pathogenic (recessive) g.36246387T>A g.36246390T>A - - GNE_000183 - PubMed: Yu 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - candidate 420-gene panel LGMD P156 PubMed: Yu 2017 analysis 180 LGMD patients M - China - - 0 - - 1 Johan den Dunnen
+/. 3 c.358G>C r.(?) p.(Gly120Arg) Parent #1 - pathogenic g.36246379C>G g.36246382C>G 265G>C (G89R) - GNE_000022 - PubMed: Liewluck 2006 - - Germline - - - 0 - DNA PCR, SEQ - - MPD - - affected brother F - Thailand - - 0 - - 1 Johan den Dunnen
?/. 2 c.390T>G r.(=) p.(=) Parent #1 - VUS g.36246347A>C g.36246350A>C NM_001190388.1:282T>G (L94L) - GNE_000127 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 2 c.390T>G r.(=) p.(=) Parent #1 - VUS g.36246347A>C g.36246350A>C NM_001190388.1:282T>G (L94L) - GNE_000127 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. - c.395G>A r.(?) p.(Arg132His) Unknown - VUS g.36246342C>T g.36246345C>T GNE(NM_001128227.2):c.395G>A (p.(Arg132His)) - GNE_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 3 c.398T>C r.(?) p.(Leu133Pro) Parent #1 - VUS g.36246339A>G g.36246342A>G - - GNE_000167 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.398T>C r.(?) p.(Leu133Pro) Parent #1 - VUS g.36246339A>G g.36246342A>G - - GNE_000167 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.410T>C r.(?) p.(Ile137Thr) Parent #1 - VUS g.36246327A>G g.36246330A>G - - GNE_000166 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.422A>G r.(?) p.(His141Arg) Parent #1 - VUS g.36246315T>C g.36246318T>C - - GNE_000165 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+?/. 3 c.478C>T r.(?) p.(Arg160*) Parent #1 - likely pathogenic g.36246259G>A g.36246262G>A - - GNE_000084 - - - - Germline - - - 0 - DNA PCR, SEQ - - IBM - - - M - India - - 0 - - 1 Tom Winder
+?/. 3 c.478C>T r.(?) p.(Arg160*) Parent #1 - likely pathogenic g.36246259G>A g.36246262G>A - - GNE_000084 - PubMed: Celeste 2014, Journal: Celeste 2014 - - Unknown ? - - 0 - DNA PCR, SEQ - - MYOP - - - M no United States Asian (non-latino/hispanic) >32y 0 - - 1 Frank Celeste
+/. 3 c.479G>A r.479g>a p.Arg160Gln Parent #1 - pathogenic g.36246258C>T g.36246261C>T R129Q - GNE_000023 - PubMed: Tomimitsu 2004 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MPD - - - M - Japan - - 0 - - 1 Johan den Dunnen
+/. 3 c.479G>A r.(?) p.(Arg160Gln) Parent #1 - pathogenic g.36246258C>T g.36246261C>T R129Q - GNE_000023 - PubMed: Kim 2006 - - Germline - - - 0 - DNA PCR, SEQ - - MPD - - - F - Korea - - 0 - - 1 Johan den Dunnen
+/. 3 c.489C>G r.(?) p.(His163Gln) Parent #1 - pathogenic g.36246248G>C g.36246251G>C 447C>G (H132Q) - GNE_000024 - PubMed: Nishino 2002 - - Germline - - - 0 - DNA PCR, SEQ - - MPD - - - - - Japan - - 0 - - 1 Johan den Dunnen
?/. - c.491T>C r.(?) p.(Ile164Thr) Unknown - VUS g.36246246A>G - GNE(NM_001128227.2):c.491T>C (p.(Ile164Thr)) - GNE_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.497G>T r.(?) p.(Gly166Val) Maternal (confirmed) - pathogenic g.36246240C>A g.36246243C>A 404G>T (G135V) - GNE_000025 - PubMed: Darvish 2002 - - Germline yes - - 0 - DNA PCR, SEQ - - IBM-2 - PubMed: Gotlieb 2005 2-generation family, affected female, unaffected carrier parents; 16112887-Pat29 F - United States - - 0 - - 2 Johan den Dunnen
+/. 3 c.518T>C r.(?) p.(Ile173Thr) Parent #1 - pathogenic g.36246219A>G g.36246222A>G T>C (I142T) - GNE_000026 - PubMed: Saechao 2010 - - Germline - - - 0 - DNA PCR, SEQ - - IBM-2 - PubMed: Saechao 2010 - F - United States Caucasian - 0 - - 1 Johan den Dunnen
+?/. - c.518T>C r.(?) p.(Ile173Thr) Parent #2 - likely pathogenic (recessive) g.36246219A>G g.36246222A>G - - GNE_000026 - PubMed: Park 2017 - - Germline - 1/209 cases - 0 - DNA SEQ, SEQ-NG - 69-gene panel muscular disorder MD Pat152 PubMed: Park 2017 - M - Korea - - 0 - - 1 Johan den Dunnen
?/. 3 c.548A>C r.(?) p.(Lys183Thr) Parent #1 - VUS g.36246189T>G g.36246192T>G - - GNE_000164 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+?/. 3 c.559T>C r.(?) p.(Tyr187His) Parent #1 - likely pathogenic g.36246178A>G g.36246181A>G - - GNE_000092 - PubMed: Celeste 2014, Journal: Celeste 2014 - - Unknown ? - - 0 - DNA PCR, SEQ - - MYOP - - - M no India Asian >33y 0 - - 1 Frank Celeste
?/. 3 c.574A>G r.(?) p.(Thr192Ala) Parent #1 - VUS g.36246163T>C g.36246166T>C - - GNE_000163 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 3 c.577C>T r.(?) p.(Arg193Cys) Maternal (confirmed) - pathogenic g.36246160G>A g.36246163G>A 535C>T (R162C) - GNE_000027 not in 200 control chromosomes PubMed: Del Bo 2003 - - Germline - - PstI+ 0 - DNA Southern, PCR, SEQ - - IBM-2 - - 2-generation family, 2 affected females F - Italy - >33y 0 - - 2 Johan den Dunnen
+/. 3 c.577C>T r.(?) p.(Arg193Cys) Maternal (confirmed) - pathogenic g.36246160G>A g.36246163G>A 535C>T (R162C) - GNE_000027 not in 200 control chromosomes PubMed: Del Bo 2003 - - Germline - - PstI+ 0 - DNA Southern, PCR, SEQ - - IBM-2 - - 2-generation family, 2 affected females F - Italy - >28y 0 - - 1 Johan den Dunnen
+?/. - c.577C>T r.(?) p.(Arg193Cys) Unknown - likely pathogenic g.36246160G>A g.36246163G>A - - GNE_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.577C>T r.(?) p.(Arg193Cys) Both (homozygous) - pathogenic g.36246160G>A g.36246163G>A 484C>T (Arg162Cys) - GNE_000027 - PubMed: Nalini 2013 - - Germline - - - 0 - DNA SEQ - - MPD 24005727-Pat1 PubMed: Nalini 2013 2-generation family, 1 affected, unaffected parents M - India - - 0 - - 1 Johan den Dunnen
+/. 3 c.577C>T r.(?) p.(Arg193Cys) Parent #1 - pathogenic g.36246160G>A g.36246163G>A - - GNE_000027 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3 c.580A>G r.(?) p.(Ser194Gly) Parent #1 - VUS g.36246157T>C g.36246160T>C - - GNE_000162 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 3 c.604A>G r.(?) p.(Met202Val) Parent #1 - pathogenic g.36246133T>C g.36246136T>C 562A>G (M171V) - GNE_000028 - PubMed: Broccolini 2002, OMIM:var0016 - - Germline - - NlaIII- 0 - DNA PCR, SEQ - - IBM-2 - - 4-generation family, 2 affected females F - Italy - - 0 - - 2 Johan den Dunnen
+/. 3 c.604A>G r.(?) p.(Met202Val) Parent #1 - pathogenic g.36246133T>C g.36246136T>C 562A>G (M171V) - GNE_000028 - PubMed: Broccolini 2002, OMIM:var0016 - - Germline - - NlaIII- 0 - DNA PCR, SEQ - - IBM-2 - - 4-generation family, 2 affected females F - Italy - - 0 - - 2 Johan den Dunnen
+/. 3 c.620A>T r.620a>u p.Asp207Val Parent #1 - pathogenic g.36246117T>A g.36246120T>A D176V - GNE_000029 - PubMed: Tomimitsu 2004 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MPD - - - F - Japan - - 0 - - 1 Johan den Dunnen
+/. 3 c.620A>T r.(?) p.(Asp207Val) Parent #1 - pathogenic g.36246117T>A g.36246120T>A 578A>T (D176V) - GNE_000029 - PubMed: Nishino 2002 - - Germline - - - 0 - DNA PCR, SEQ - - MPD - - - - - Japan - - 0 - - 1 Johan den Dunnen
+/. 3 c.620A>T r.(?) p.(Asp207Val) Parent #2 - pathogenic g.36246117T>A g.36246120T>A 578A>T (D176V) - GNE_000029 - PubMed: Saito 2004 - - Germline - - - 0 - DNA PCR, SEQ - - MPD - - - M - Japan - >42y 0 - - 1 Johan den Dunnen
+/. 3 c.620A>T r.620a>u p.Asp207Val Parent #2 - pathogenic g.36246117T>A g.36246120T>A D176V - GNE_000029 - PubMed: Tomimitsu 2004 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MPD - - - F - Japan - - 0 - - 1 Johan den Dunnen
+/. 3 c.620A>T r.620a>u p.Asp207Val Parent #2 - pathogenic g.36246117T>A g.36246120T>A D176V - GNE_000029 - PubMed: Tomimitsu 2004 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MPD - - - M - Japan - - 0 - - 1 Johan den Dunnen
+/. 3 c.620A>T r.620a>u p.Asp207Val Parent #2 - pathogenic g.36246117T>A g.36246120T>A D176V - GNE_000029 - PubMed: Tomimitsu 2004 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MYOP - - - M - Japan - - 0 - - 1 Johan den Dunnen
+/. 3 c.620A>T r.(?) p.(Asp207Val) Paternal (confirmed) - pathogenic g.36246117T>A g.36246120T>A A>T (D176V) - GNE_000029 - PubMed: Motozaki 2007 - - Germline - - - 0 - DNA PCR, SEQ - - IBM-2 - - - M - Japan - >31y 0 - - 2 Johan den Dunnen
+/. 3 c.620A>T r.(?) p.(Asp207Val) Parent #1 - pathogenic g.36246117T>A g.36246120T>A 578A>T (D176V) - GNE_000029 - PubMed: Nishino 2002 - - Germline - - - 0 - DNA PCR, SEQ - - MPD - - - - - Japan - - 0 - - 1 Johan den Dunnen
+/. 3 c.620A>T r.(?) p.(Asp207Val) Parent #2 - pathogenic g.36246117T>A g.36246120T>A 578A>T (D176V) - GNE_000029 - PubMed: Nishino 2002 - - Germline - - - 0 - DNA PCR, SEQ - - MPD - - - - - Japan - - 0 - - 1 Johan den Dunnen
+/. 3 c.620A>T r.(?) p.(Asp207Val) Parent #1 - pathogenic g.36246117T>A g.36246120T>A 578A>T (D176V) - GNE_000029 - PubMed: Nishino 2002 - - Germline - - - 0 - DNA PCR, SEQ - - MPD - - - - - Japan - - 0 - - 1 Johan den Dunnen
+/. 3 c.620A>T r.(?) p.(Asp207Val) Parent #1 - pathogenic g.36246117T>A g.36246120T>A 578A>T (D176V) - GNE_000029 - PubMed: Nishino 2002 - - Germline - - - 0 - DNA PCR, SEQ - - MPD - - - - - Japan - - 0 - - 1 Johan den Dunnen
+/. 3 c.620A>T r.(?) p.(Asp207Val) Parent #1 - pathogenic g.36246117T>A g.36246120T>A 578A>T (D176V) - GNE_000029 - PubMed: Nishino 2002 - - Germline - - - 0 - DNA PCR, SEQ - - MPD - - - - - Japan - - 0 - - 1 Johan den Dunnen
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