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.

814 entries on 9 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     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 3i c.709 + 1del r.spl p.? Parent #1 - pathogenic (recessive) g.36246028del g.36246031del 709 + 1delG - GNE_000035 - PubMed: Khadilkar 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - gene panel MYOP Pat-GNE13 PubMed: Khadilkar 2022 - - - India - - - - - 1 Johan den Dunnen
+/. _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 - - - - - DNA, RNA PCR, RT-PCR, SEQ, SEQ-NG - WGS MPD 27829678-Pat7 PubMed: Zhu 2017 2-generation family, 1 affected, unaffected parents M - Japan - - - - - 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 - - - - - DNA Southern, PCR, SEQ - - IBM2 - - 2-generation family, 2 affected females F - Italy - >33y - - - 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 - - - - - DNA Southern, PCR, SEQ - - IBM2 - - 2-generation family, 2 affected females F - Italy - >28y - - - 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 - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.-11C>G r.(?) p.(=) Unknown - VUS g.36276952G>C - GNE(NM_001128227.2):c.-11C>G (p.(=)) - GNE_000218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 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 - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
-?/. - c.-10G>A r.(?) p.(=) Unknown - likely benign g.36276951C>T g.36276954C>T GNE(NM_001128227.2):c.-10G>A (p.(=)) - GNE_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 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 - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 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 - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 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 - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 3 c.? r.? p.? Parent #2 - pathogenic (recessive) g.? - 326A>G (His109Arg) - PTCH1_000000 - PubMed: Khadilkar 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - gene panel MYOP Pat-GNE5 PubMed: Khadilkar 2022 - - - India - - - - - 1 Johan den Dunnen
?/. - c.33A>G r.(?) p.(=) Unknown - VUS g.36276909T>C - GNE(NM_001190388.1):c.131A>G (p.(His44Arg)) - GNE_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 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 - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
-/. - c.51+34T>C r.(=) p.(=) Unknown - benign g.36276857A>G - GNE(NM_001128227.3):c.51+34T>C - GNE_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 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 - - - - 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 - - - - - 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 - - - - - DNA, RNA PCR, RT-PCR, SEQ, SEQ-NG - - MPD 27829678-Pat4 PubMed: Zhu 2017 2-generation family, 1 affected, unaffected parents M - Bangladesh - - - - - 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 - - - - - DNA, RNA PCR, RT-PCR, SEQ, SEQ-NG - - MPD 27829678-Pat5 PubMed: Zhu 2017 2-generation family, 1 affected, unaffected parents M - India - - - - - 1 Johan den Dunnen
+/. - c.(?_51+10215)_(52-8177_?)del r.? p.? Maternal (confirmed) ACMG pathogenic (recessive) g.(?_36257571)_(36266676_?)del g.(?_36257574)_(36266679_?)del - - GNE_000220 Affected GNE - - - Germline - - - - - DNA SEQ-NG-I - - NM;IBM2 - - - - - - - - - - - 1 Chung, Hon Yin Brian
+/. 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 - - - - - 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 - - - - 1 Johan den Dunnen
-/. - c.51+13314T>C r.(=) p.(=) Unknown - benign g.36263577A>G - GNE(NM_001128227.3):c.51+13314T>C - GNE_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 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 - - - - - DNA PCR, SEQ, SEQ-NG - - MPD 27829678-Pat11 PubMed: Zhu 2017 2-generation family, 1 affected, unaffected parents F - Japan - - - - - 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 - - - - - DNA PCR, SEQ, SEQ-NG - - MPD 27829678-Pat1 PubMed: Zhu 2017 2-generation family, 1 affected, unaffected parents M - Japan - - - - - 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 - - - - DNA, RNA PCR, RT-PCR, SEQ, SEQ-NG - - MPD 27829678-Pat2 PubMed: Zhu 2017 2-generation family, 2 affected sibs, unaffected parents M - Japan - - - - - 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 - - - - DNA, RNA PCR, RT-PCR, SEQ, SEQ-NG - - MPD 27829678-Pat3 PubMed: Zhu 2017 sib2 F - Japan - - - - - 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 - - - - - DNA, RNA PCR, RT-PCR, SEQ, SEQ-NG - - MPD 27829678-Pat10 PubMed: Zhu 2017 2-generation family, 1 affected, unaffected parents M - Japan - - - - - 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 - - - - - DNA, RNA PCR, RT-PCR, SEQ, SEQ-NG - - MPD 27829678-Pat9 PubMed: Zhu 2017 2-generation family, 1 affected, unaffected parents F - Japan - - - - - 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 - - - - - DNA PCR, SEQ, SEQ-NG - - MPD 27829678-Pat6 PubMed: Zhu 2017 2-generation family, 1 affected, unaffected parents F - Japan - - - - - 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 - - - - - DNA, RNA PCR, RT-PCR, SEQ, SEQ-NG - - MPD 27829678-Pat8 PubMed: Zhu 2017 2-generation family, 1 affected, unaffected parents M - Japan - - - - - 1 Johan den Dunnen
?/. - c.78A>T r.(?) p.(Lys26Asn) Unknown - VUS g.36249368T>A - GNE(NM_001128227.3):c.78A>T (p.(Lys26Asn)) - GNE_000219 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.79C>T r.(?) p.(Arg27*) Parent #1 - pathogenic g.36249367G>A g.36249370G>A - - GNE_000172 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.95T>C r.(?) p.(Met32Thr) Parent #2 ACMG VUS g.36249351A>G g.36249354A>G - - GNE_000193 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat79 PubMed: Chakravorty 2020 - M - India India - - - - 1 Johan den Dunnen
+/. 2 c.97G>T r.(?) p.(Glu33*) Parent #1 - pathogenic g.36249349C>A g.36249352C>A - - GNE_000171 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. - c.97G>T r.(?) p.(Glu33Ter) Parent #1 ACMG pathogenic (recessive) g.36249349C>A g.36249352C>A - - GNE_000171 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat105 PubMed: Chakravorty 2020 - F - India India - - - - 1 Johan den Dunnen
+/. 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 - - - - - DNA PCR, SEQ - - IBM2 - PubMed: Saechao 2010 - F - United States European - - - - 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 - - - - - DNA PCR, SEQ - - IBM2 - PubMed: Saechao 2010 - F - United States European - - - - 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 - - - - - DNA PCR, SEQ - - IBM2 - PubMed: Saechao 2010 - F - United States white - - - - 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 - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 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 - - - - - DNA PCR, SEQ - - IBM2 - - - F - India Asian - - - - 1 Johan den Dunnen
+/. - c.124C>T r.(?) p.(Arg42Trp) Parent #1 ACMG pathogenic (recessive) g.36249322G>A g.36249325G>A (R11W) - GNE_000013 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat83 PubMed: Chakravorty 2020 - M - India India - - - - 1 Johan den Dunnen
+/. 2 c.124C>T r.(?) p.(Arg42Trp) Parent #2 - pathogenic (recessive) g.36249322G>A g.36249325G>A - - GNE_000013 - PubMed: Khadilkar 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - gene panel MYOP Pat-GNE3 PubMed: Khadilkar 2022 - - - India - - - - - 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 - - - - - DNA PCR, SEQ - - MPD - - - M - Japan - >42y - - - 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 - - - - - DNA, RNA RT-PCR, SEQ - - MPD - - - M - Japan - - - - - 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 - - - - - DNA, RNA RT-PCR, SEQ - - MYOP - - - M - Japan - - - - - 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 - - - - - DNA PCR, SEQ - - MPD - - - F - Korea - - - - - 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 - - - - - DNA PCR, SEQ - - MPD - - - F - Korea - - - - - 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 - - - - - DNA SEQ - - MPD 26053703-Pat1 PubMed: Liu 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - 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 - - - - - DNA SEQ - - MPD 26053703-Pat2 PubMed: Liu 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F no China - - - - - 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 - - - DNA SEQ, SEQ-NG - 69-gene panel muscular disorder MD Pat38 PubMed: Park 2017 - F - Korea - - - - - 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 - - - DNA SEQ, SEQ-NG - 69-gene panel muscular disorder MD Pat135 PubMed: Park 2017 - F - Korea - - - - - 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 - - - DNA SEQ, SEQ-NG - 69-gene panel muscular disorder MD Pat5 PubMed: Park 2017 - F - Korea - - - - - 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 - - - - - DNA SEQ, SEQ-NG - candidate 420-gene panel LGMD P65 PubMed: Yu 2017 analysis 180 LGMD patients F - China - - - - - 1 Johan den Dunnen
+?/. 2 c.146del r.(?) p.(Asn49Thrfs*33) Parent #1 - likely pathogenic g.36249301del g.36249304del - - GNE_000015 - - - - Germline - - - - - DNA PCR, SEQ - - MPD - - - F - Canada - - - - - 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 - - - - - DNA PCR, SEQ - - IBM2 - - - F - Italy - >42y - - - 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 - - - - - DNA PCR, SEQ - - IBM2 - - - F - Italy - >42y - - - 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 - - - - - DNA SEQ - - MPD 24005727-Pat9 PubMed: Nalini 2013 2-generation family, 1 affected, unaffected parents F - India - - - - - 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 - - - - - DNA PCR, SEQ - - MPD - - - F - Korea - - - - - 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 - - - DNA SEQ, SEQ-NG - 69-gene panel muscular disorder MD Pat26 PubMed: Park 2017 - F - Korea - - - - - 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 - - - - - DNA PCR, SEQ - - MPD - - - - - Japan - - - - - 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 - - - - - DNA PCR, SEQ - - IBM2 - - - - - Italy - - - - - 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 - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
-?/. - c.258-18A>G r.(=) p.(=) Unknown - likely benign g.36246497T>C - GNE(NM_001128227.2):c.258-18A>G (p.(=)) - GNE_000214 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.268C>T r.(?) p.(Arg90*) Parent #1 - pathogenic g.36246469G>A g.36246472G>A - - GNE_000168 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. - c.268C>T r.(?) p.(Arg90Ter) Parent #2 ACMG pathogenic (recessive) g.36246469G>A g.36246472G>A - - GNE_000168 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat104 PubMed: Chakravorty 2020 - M - India India - - - - 1 Johan den Dunnen
+?/. 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 ? - - - - DNA PCR, SEQ - - MYOP - - - M no Portugal White (non-latino/hispanic) >35y - - - 1 Frank Celeste
?/. - c.271A>G r.(?) p.(Met91Val) Unknown - VUS g.36246466T>C - - - GNE_000090 - - - rs770405092 Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.300C>T r.(?) p.(=) Parent #1 - VUS g.36246437G>A g.36246440G>A - - GNE_000128 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 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 - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 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 - - - - - DNA PCR, SEQ - - IBM2 - PubMed: Saechao 2010 - F - United States white - - - - 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 - - - - - DNA PCR, SEQ - - IBM2 - PubMed: Saechao 2010 - F - United States white - - - - 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 - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 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 - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 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 - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+?/. - c.313A>G r.(?) p.(Thr105Ala) Unknown - likely pathogenic g.36246424T>C - - - GNE_000205 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.326G>A r.(?) p.(Gly109Glu) Unknown - pathogenic g.36246411C>T - GNE c.218G>A - GNE_000208 - PubMed: Hartnett 2022, PubMed: Tavakoli 2023 - - Germline/De novo (untested) - - - - - DNA SEQ - gene panel ? Pat9 PubMed: Hartnett 2022, PubMed: Tavakoli 2023 CK-MM 36,781 newborn screening F - United States Asia - - - - 1 Johan den Dunnen
+/. - c.350A>T r.(?) p.(Glu117Val) Both (homozygous) - pathogenic (recessive) g.36246387T>A g.36246390T>A - - GNE_000183 - PubMed: Yu 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - candidate 420-gene panel LGMD P156 PubMed: Yu 2017 analysis 180 LGMD patients M - China - - - - - 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 - - - - - DNA PCR, SEQ - - MPD - - affected brother F - Thailand - - - - - 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 - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 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 - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.395G>A r.(?) p.(Arg132His) Unknown - VUS g.36246342C>T - GNE(NM_001128227.2):c.395G>A (p.(Arg132His)) - GNE_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 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 - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 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 - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 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 - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 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 - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+?/. 3 c.478C>T r.(?) p.(Arg160*) Parent #1 - likely pathogenic g.36246259G>A g.36246262G>A - - GNE_000084 - - - - Germline - - - - - DNA PCR, SEQ - - IBM - - - M - India - - - - - 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 ? - - - - DNA PCR, SEQ - - MYOP - - - M no United States Asian (non-latino/hispanic) >32y - - - 1 Frank Celeste
+/. 3 c.478C>T r.(?) p.(Arg160Ter) Unknown - pathogenic g.36246259G>A g.36246262G>A - - GNE_000084 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-4296 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+/. 3 c.478C>T r.(?) p.(Arg160Ter) Unknown - pathogenic g.36246259G>A g.36246262G>A - - GNE_000084 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-4544 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+/. 3 c.478C>T r.(?) p.(Arg160Ter) Unknown - pathogenic g.36246259G>A g.36246262G>A - - GNE_000084 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-439 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+/. - c.478C>T r.(?) p.(Arg160Ter) Parent #1 ACMG pathogenic (recessive) g.36246259G>A g.36246262G>A - - GNE_000084 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat98 PubMed: Chakravorty 2020 - F - India India - - - - 1 Johan den Dunnen
+/. - c.478C>T r.(?) p.(Arg160Ter) Parent #2 ACMG pathogenic (recessive) g.36246259G>A g.36246262G>A - - GNE_000084 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat84 PubMed: Chakravorty 2020 - M - India India - - - - 1 Johan den Dunnen
+/. 3 c.478C>T r.(?) p.(Arg160Ter) Parent #1 - pathogenic (recessive) g.36246259G>A g.36246262G>A - - GNE_000084 - PubMed: Khadilkar 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - gene panel MYOP Pat-GNE15 PubMed: Khadilkar 2022 - - - India - - - - - 1 Johan den Dunnen
+/. 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 - - - - - DNA, RNA RT-PCR, SEQ - - MPD - - - M - Japan - - - - - 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 - - - - - DNA PCR, SEQ - - MPD - - - F - Korea - - - - - 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 - - - - - DNA PCR, SEQ - - MPD - - - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.490_491dup r.(?) p.(Glu165Leufs*18) Parent #2 ACMG pathogenic (recessive) g.36246246_36246247dup .36246249_36246250dup c.397_398dupAT (Glu134fs) - GNE_000189 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat89 PubMed: Chakravorty 2020 - F - India India - - - - 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 - - - - DNA PCR, SEQ - - IBM2 - PubMed: Gotlieb 2005 2-generation family, affected female, unaffected carrier parents; 16112887-Pat29 F - United States - - - - - 2 Johan den Dunnen
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