Unique variants in the GNE gene

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.

186 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/. 1 7 c.? r.(?) p.? - pathogenic g.? - 1132G>T (D378Y) - PTCH1_000000 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 _1_3i c.-35077_710-2769del r.0 p.0 - pathogenic g.36239759_36312027del g.36239762_36312030del - - GNE_000118 - PubMed: Zhu 2017 - - Germline - - - - - Johan den Dunnen
+/. 2 _1_8i c.(?_-112)_(1726+1_1727-1)del r.0? p.0? - 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 - - - - - Johan den Dunnen
?/. 1 1 c.-65C>A r.(=) p.(=) - VUS g.36277006G>T g.36277009G>T NM_001190388.1:34C>A (P12T) - GNE_000126 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 5' UTR c.-10G>A r.(?) p.(=) - VUS g.36276951C>T g.36276954C>T - - GNE_000175 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 2 1, 5' UTR c.-4C>T r.(=), r.(?) p.(=) - VUS g.36276945G>A g.36276948G>A NM_001190388.1:95C>T (S32L) - GNE_000129 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 5' UTR c.-3G>A r.(?) p.(=) - VUS g.36276944C>T g.36276947C>T - - GNE_000174 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 1 c.43G>C r.(?) p.(Gly15Arg) - VUS g.36276899C>G g.36276902C>G - - GNE_000173 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 1i c.51+7981_52-8189del r.? p.? - pathogenic g.36257594_36268921del g.36257597_36268924del - - GNE_000113 mRNA expression reduced to 0.50 PubMed: Garland 2017 - - Germline yes - - - - Johan den Dunnen
+/. 2 1i c.51+9423_52-8182del r.0 p.0 - pathogenic g.36257583_36267475del g.36257586_36267478del - - GNE_000116 - PubMed: Zhu 2017 - - Germline - - - - - Johan den Dunnen
+/. 1 1i c.51+10408_52-10008del r.0 p.0 - pathogenic (recessive) g.36259402_36266483del g.36259405_36266486del - - GNE_000179 7.082 kb deletion PubMed: Chakravorty 2019 - - Germline - - - - - Johan den Dunnen
+/. 1 1i c.52-12264_52-8148del r.0? p.0? - pathogenic g.36257571_36261687del g.36257574_36261690del - - GNE_000121 - PubMed: Zhu 2017 - - Germline - - - - - Johan den Dunnen
+/. 4 1i c.52-11451_52-447del r.0, r.0? p.0, p.0? - pathogenic g.36249843_36260847del g.36249846_36260850del - - GNE_000115 no detectable transcript PubMed: Zhu 2017 - - Germline yes - - - - Johan den Dunnen
+/. 1 1i_5i c.52-8128_1075+531del r.0 p.0 - pathogenic g.36233459_36257595del g.36233462_36257598del - - GNE_000120 - PubMed: Zhu 2017 - - Germline - - - - - Johan den Dunnen
+/. 1 1i_2i c.52-4733_257+1241del r.0? p.0? - pathogenic g.36247950_36254129del g.36247953_36254132del - - GNE_000117 - PubMed: Zhu 2017 - - Germline - - - - - Johan den Dunnen
+/. 1 1i_3i c.52-3652_709+469dup r.52_709dup p.? - pathogenic g.36245582_36253069dup g.36245585_36253072dup - - GNE_000119 two breakpoints found, somatic mosaicism PubMed: Zhu 2017 - - Germline - - - - - Johan den Dunnen
+/. 1 2 c.79C>T r.(?) p.(Arg27*) - pathogenic g.36249367G>A g.36249370G>A - - GNE_000172 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 2 c.97G>T r.(?) p.(Glu33*) - pathogenic g.36249349C>A g.36249352C>A - - GNE_000171 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 2 2 c.98A>G r.(?) p.(Glu33Gly) - pathogenic g.36249348T>C g.36249351T>C A>G (E2G) - GNE_000020 - PubMed: Saechao 2010 - - Germline - - - - - Johan den Dunnen
+/. 1 2 c.115C>T r.(?) p.(Arg39*) - pathogenic g.36249331G>A g.36249334G>A C>T (R8X) - GNE_000012 - PubMed: Saechao 2010 - - Germline - - - - - Johan den Dunnen
?/. 1 2 c.116G>A r.(?) p.(Arg39Gln) - VUS g.36249330C>T g.36249333C>T - - GNE_000170 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 2 c.124C>T r.(?) p.(Arg42Trp) - pathogenic g.36249322G>A g.36249325G>A R11W - GNE_000013 not in 100 control chromosomes PubMed: Huizing 2004 - - Germline - - - - - Johan den Dunnen
+/., +?/. 11 2 c.131G>C r.(?), r.131g>c p.(Cys44Ser), p.Cys44Ser - likely pathogenic, likely pathogenic (recessive), pathogenic, pathogenic (recessive) g.36249315C>G g.36249318C>G 89G>C (C13S), C13S, NM_005476.4:c.38G>C - GNE_000014 two genetic etiologies PubMed: Kim 2006, PubMed: Liu 2015, PubMed: Park 2017, PubMed: Saito 2004, PubMed: Tomimitsu 2004, 1 more item - - Germline - 1/209 cases - - - Johan den Dunnen
+?/. 1 2 c.146del r.(?) p.(Asn49Thrfs*33) - likely pathogenic g.36249301del g.36249304del - - GNE_000015 - - - - Germline - - - - - Tom Winder
+/. 2 2 c.172C>T r.(?) p.(Pro58Ser) - pathogenic g.36249274G>A g.36249277G>A 79C>T (P27S) - GNE_000016 - PubMed: Broccolini 2004 - - Germline - - - - - Johan den Dunnen
+/., +?/. 2 2 c.173C>T r.(?) p.(Pro58Leu) - likely pathogenic, pathogenic g.36249273G>A g.36249276G>A 80C>T (Pro27Leu), GNE(NM_001128227.2):c.173C>T (p.(Pro58Leu)) - GNE_000125 unknown variant 2nd chromosome, VKGL data sharing initiative Nederland PubMed: Nalini 2013 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Leiden
+/., +?/. 2 2 c.179T>C r.(?) p.(Met60Thr) - likely pathogenic (recessive), pathogenic g.36249267A>G g.36249270A>G M29T - GNE_000017 - PubMed: Kim 2006, PubMed: Park 2017 - - Germline - 1/209 cases - - - Johan den Dunnen
+/. 1 2 c.188_197dup r.(?) p.(Glu66Aspfs*2) - pathogenic g.36249250_36249259dup g.36249253_36249262dup dupTTAAAACCGA (fs*) - GNE_000018 - PubMed: Nishino 2002 - - Germline - - - - - Johan den Dunnen
+/. 1 2 c.200C>T r.(?) p.(Pro67Leu) - pathogenic g.36249246G>A g.36249249G>A 107C>T (P36L) - GNE_000019 - PubMed: Eisenberg 2003 - - Germline - - - - - Johan den Dunnen
+/. 1 2i c.257+1G>A r.spl p.? - pathogenic g.36249188C>T g.36249191C>T - - GNE_000169 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 3 c.268C>T r.(?) p.(Arg90*) - pathogenic g.36246469G>A g.36246472G>A - - GNE_000168 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/. 1 3 c.271A>G r.(?) p.(Met91Val) - likely pathogenic g.36246466T>C g.36246469T>C - - GNE_000090 - PubMed: Celeste 2014, Journal: Celeste 2014 - - Unknown ? - - - - Frank Celeste
?/. 2 2, 3 c.300C>T r.(=), r.(?) p.(=) - VUS g.36246437G>A g.36246440G>A NM_001190388.1:192C>T (N64N) - GNE_000128 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/., ?/. 5 3 c.304A>T r.(?) p.(Arg102Trp) - pathogenic, VUS g.36246433T>A g.36246436T>A A>T (R71W) - GNE_000021 no second variant, variant apparently homozygous; no second variant PubMed: Nallamilli 2018, PubMed: Saechao 2010 - - Germline - - - - - Johan den Dunnen, Madhuri Hegde
+/. 1 - c.350A>T r.(?) p.(Glu117Val) - pathogenic (recessive) g.36246387T>A g.36246390T>A - - GNE_000183 - PubMed: Yu 2017 - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.358G>C r.(?) p.(Gly120Arg) - pathogenic g.36246379C>G g.36246382C>G 265G>C (G89R) - GNE_000022 - PubMed: Liewluck 2006 - - Germline - - - - - Johan den Dunnen
?/. 2 2 c.390T>G r.(=) p.(=) - VUS g.36246347A>C g.36246350A>C NM_001190388.1:282T>G (L94L) - GNE_000127 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 - c.395G>A r.(?) p.(Arg132His) - 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 - - - - - VKGL-NL_Leiden
?/. 2 3 c.398T>C r.(?) p.(Leu133Pro) - VUS g.36246339A>G g.36246342A>G - - GNE_000167 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 3 c.410T>C r.(?) p.(Ile137Thr) - VUS g.36246327A>G g.36246330A>G - - GNE_000166 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 3 c.422A>G r.(?) p.(His141Arg) - VUS g.36246315T>C g.36246318T>C - - GNE_000165 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/. 2 3 c.478C>T r.(?) p.(Arg160*) - likely pathogenic g.36246259G>A g.36246262G>A - - GNE_000084 - PubMed: Celeste 2014, Journal: Celeste 2014 - - Germline, Unknown ? - - - - Tom Winder, Frank Celeste
+/. 2 3 c.479G>A r.(?), r.479g>a p.(Arg160Gln), p.Arg160Gln - pathogenic g.36246258C>T g.36246261C>T R129Q - GNE_000023 - PubMed: Kim 2006, PubMed: Tomimitsu 2004 - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.489C>G r.(?) p.(His163Gln) - pathogenic g.36246248G>C g.36246251G>C 447C>G (H132Q) - GNE_000024 - PubMed: Nishino 2002 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.491T>C r.(?) p.(Ile164Thr) - VUS g.36246246A>G - GNE(NM_001128227.2):c.491T>C (p.(Ile164Thr)) - GNE_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 3 c.497G>T r.(?) p.(Gly166Val) - pathogenic g.36246240C>A g.36246243C>A 404G>T (G135V) - GNE_000025 - PubMed: Darvish 2002 - - Germline yes - - - - Johan den Dunnen
+/., +?/. 2 3 c.518T>C r.(?) p.(Ile173Thr) - likely pathogenic (recessive), pathogenic g.36246219A>G g.36246222A>G T>C (I142T) - GNE_000026 - PubMed: Park 2017, PubMed: Saechao 2010 - - Germline - 1/209 cases - - - Johan den Dunnen
?/. 1 3 c.548A>C r.(?) p.(Lys183Thr) - VUS g.36246189T>G g.36246192T>G - - GNE_000164 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/. 1 3 c.559T>C r.(?) p.(Tyr187His) - likely pathogenic g.36246178A>G g.36246181A>G - - GNE_000092 - PubMed: Celeste 2014, Journal: Celeste 2014 - - Unknown ? - - - - Frank Celeste
?/. 1 3 c.574A>G r.(?) p.(Thr192Ala) - VUS g.36246163T>C g.36246166T>C - - GNE_000163 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/., +?/. 5 3 c.577C>T r.(?) p.(Arg193Cys) - likely pathogenic, pathogenic g.36246160G>A g.36246163G>A 484C>T (Arg162Cys), 535C>T (R162C) - GNE_000027 not in 200 control chromosomes, VKGL data sharing initiative Nederland PubMed: Del Bo 2003, PubMed: Nalini 2013, PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - PstI+ - - Johan den Dunnen, Madhuri Hegde, VKGL-NL_Nijmegen
?/. 1 3 c.580A>G r.(?) p.(Ser194Gly) - VUS g.36246157T>C g.36246160T>C - - GNE_000162 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 2 3 c.604A>G r.(?) p.(Met202Val) - pathogenic g.36246133T>C g.36246136T>C 562A>G (M171V) - GNE_000028 - PubMed: Broccolini 2002, OMIM:var0016 - - Germline - - NlaIII- - - Johan den Dunnen
+/. 26 3 c.620A>T r.(?), r.620a>u p.(Asp207Val), p.Asp207Val - pathogenic, pathogenic (recessive) g.36246117T>A g.36246120T>A 527A>T (Asp176Val), 578A>T (D176V), A>T (D176V), D176V, NM_005476.4:c.527A>T - GNE_000029 - PubMed: Choi 2015, PubMed: Motozaki 2007, PubMed: Nallamilli 2018, PubMed: Nishino 2002, 5 more items - - Germline - - - - - Johan den Dunnen, Madhuri Hegde
+/., +?/. 2 3 c.622C>T r.(?) p.(Arg208Cys) - likely pathogenic, pathogenic g.36246115G>A g.36246118G>A 580C>T (R177C) - GNE_000030 combination of variants not reported PubMed: Nishino 2002, PubMed: Topf 2020 - - Germline - 2/1001 cases - - - Johan den Dunnen
+/. 2 3 c.628C>T r.(?) p.(Leu210Phe) - pathogenic g.36246109G>A g.36246112G>A 535C>T (L179F), C>T (L179F) - GNE_000031 unknown variant 2nd chromosome PubMed: Bruno 2008, PubMed: Grandis 2010 - - Germline - - - - - Johan den Dunnen
?/. 1 3 c.661C>T r.(?) p.(Leu221Phe) - VUS g.36246076G>A g.36246079G>A - - GNE_000161 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 3 c.691A>T r.(?) p.(Ile231Phe) - pathogenic g.36246046T>A g.36246049T>A 649A>T (I200F) - GNE_000032 - PubMed: Eisenberg 2003 - - Germline - - AluI+ - - Johan den Dunnen
-/. 1 3 c.693C>T r.(?) p.(=) - benign g.36246044G>A g.36246047G>A NM_005476.5:c.600C>T (I200I) - GNE_000085 - from website {DBsub-Emory} - - Unknown - - - - - Madhuri Hegde
+/. 1 3 c.694_697dup r.(?) p.(Arg233Hisfs*7) - pathogenic g.36246042_36246045dup g.36246045_36246048dup 694_697dupATTC - GNE_000160 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 - c.697C>T r.(?) p.(Arg233Cys) - VUS g.36246040G>A g.36246043G>A GNE(NM_005476.6):c.604C>T (p.R202C) - GNE_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 3 c.698G>T r.(?) p.(Arg233Leu) - pathogenic g.36246039C>A g.36246042C>A R202L - GNE_000033 not in 100 control chromosomes PubMed: Huizing 2004 - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.705G>A r.(?) p.(Trp235*) - pathogenic g.36246032C>T g.36246035C>T G>A (W204X) - GNE_000034 - PubMed: Saechao 2010 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.706C>G r.(?) p.(Leu236Val) - VUS g.36246031G>C - GNE(NM_001128227.2):c.706C>G (p.L236V) - GNE_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/., ?/. 3 3 c.709G>A r.(?) p.(Gly237Ser) - pathogenic, VUS g.36246028C>T g.36246031C>T 616G>A (G206S) - GNE_000036 no second variant PubMed: Broccolini 2004, PubMed: Nallamilli 2018 - - Germline - - - - - Johan den Dunnen, Madhuri Hegde
+/. 2 3i c.709+1del r.(spl?) p.(Gly237fs*4) - pathogenic g.36246028del g.36246031del 616delG (G206fsX4) - GNE_000035 - PubMed: Broccolini 2004 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.715G>A r.(?) p.(Asp239Asn) - likely pathogenic (recessive) g.36236976C>T g.36236979C>T - - GNE_000182 - PubMed: Park 2017 - - Germline - 1/209 cases - - - Johan den Dunnen
?/. 1 - c.729dup r.(?) p.(Asp244ArgfsTer13) - VUS g.36236964dup g.36236967dup GNE(NM_001128227.2):c.729dupA (p.(Asp244ArgfsTer13)) - GNE_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/., ?/. 2 4 c.731A>T r.(?) p.(Asn244Val), p.(Asp244Val) - likely pathogenic, VUS g.36236960T>A g.36236963T>A - - GNE_000093 - PubMed: Celeste 2014, Journal: Celeste 2014, PubMed: Nallamilli 2018 - - Germline, Unknown ? - - - - Madhuri Hegde, Frank Celeste
+/., +?/. 3 4 c.740T>C r.(?) p.(Val247Ala) - likely pathogenic, pathogenic g.36236951A>G g.36236954A>G 698T>C (V216A), V216A - GNE_000037 not in 36 control chromosomes PubMed: Huizing 2004, PubMed: Nallamilli 2018, PubMed: Vasconcelos 2002 - - Germline yes - Fnu4HI+ - - Johan den Dunnen, Madhuri Hegde
?/. 1 4 c.748C>A r.(?) p.(Gln250Lys) - VUS g.36236943G>T g.36236946G>T - - GNE_000159 no second variant in GNE PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/., ?/. 2 4 c.766G>A r.(?) p.(Asp256Asn) - pathogenic, VUS g.36236925C>T g.36236928C>T 724G>A (D225N) - GNE_000010 not in 132 control chromosomes PubMed: Eisenberg 2001, PubMed: Eisenberg 2003, OMIM:var0011, PubMed: Nallamilli 2018 - - Germline - - TspRI- - - Johan den Dunnen, Madhuri Hegde
?/. 1 4 c.788T>C r.(?) p.(Met263Thr) - VUS g.36236903A>G g.36236906A>G - - GNE_000158 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 4 c.803T>C r.(?) p.(Leu268Ser) - VUS g.36236888A>G g.36236891A>G - - GNE_000157 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 4 c.804G>C r.(?) p.(Leu268Phe) - VUS g.36236887C>G g.36236890C>G - - GNE_000156 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 2 4 c.815T>G r.(?) p.(Ile272Ser) - pathogenic g.36236876A>C g.36236879A>C T>G (I241S) - GNE_000038 - PubMed: Ro 2005 - - Germline - - - - - Johan den Dunnen
+/. 5 4 c.829C>T r.(?) p.(Arg277Trp) - pathogenic g.36236862G>A g.36236865G>A 736C>T (R246W) - GNE_000039 - PubMed: Darvish 2002, PubMed: Nallamilli 2018, PubMed: Stober 2010 - - Germline yes - - - - Johan den Dunnen, Madhuri Hegde
+/., +?/. 5 4 c.830G>A r.(?) p.(Arg277Gln) - likely pathogenic, pathogenic g.36236861C>T g.36236864C>T 737G>A (R246Q), 788G>A (R246Q), G>A (R246Q) - GNE_000009 not in 132 control chromosomes, variant apparently homozygous PubMed: Broccolini 2004, PubMed: Eisenberg 2001, PubMed: Eisenberg 2003, OMIM:var0010, 2 more items - - Germline - - NlaIV- - - Johan den Dunnen, Madhuri Hegde
+/. 1 4i c.862+4A>G r.710_862del p.Asp238_Gly288del - pathogenic g.36236825T>C g.36236828T>C IVS4+4A>G - GNE_000040 - PubMed: Nishino 2002 - - Germline - - - - - Johan den Dunnen
+/. 1 5 c.881G>T r.881g>u p.Arg294Leu - pathogenic g.36234111C>A g.36234114C>A 788G>T (R263L) - GNE_000003 no variants 2nd chromosome PubMed: Seppala, OMIM:var0003 - rs121908623 Germline - - - - - Johan den Dunnen
+/. 1 5 c.889C>T r.889c>u p.Arg297Trp - pathogenic g.36234103G>A g.36234106G>A 796C>T (R266W) - GNE_000001 no variants 2nd chromosome PubMed: Seppala, OMIM:var0001 - rs121908621 Germline - - - - - Johan den Dunnen
+/. 4 5 c.890G>A r.(?), r.890g>a p.(Arg297Gln), p.Arg297Gln - pathogenic, pathogenic (dominant) g.36234102C>T g.36234105C>T 797G>A, 797G>A (R266Q) - GNE_000002 no variants 2nd chromosome PubMed: Ferreira 1999, PubMed: Leroy 2001, OMIM:var0004, PubMed: Seppala, OMIM:var0002, 1 more item - rs121908622 De novo, Germline - - AciI- - - Johan den Dunnen
+/. 1 5 c.922C>T r.(?) p.(Arg308Cys) - pathogenic g.36234070G>A g.36234073G>A 829C>T (R277C) - GNE_000044 unknown variant 2nd chromosome PubMed: Behin 2008 - - Germline - - - - - Johan den Dunnen
+/. 1 5 c.940C>T r.940c>u p.Pro314Ser - pathogenic g.36234052G>A g.36234055G>A P283S - GNE_000045 - PubMed: Tomimitsu 2004 - - Germline - - - - - Johan den Dunnen
+/. 1 5 c.962T>A r.(?) p.(Leu321*) - pathogenic g.36234030A>T g.36234033A>T 869T>A (L290X) - GNE_000108 - PubMed: Kintarak 2010 - - Germline - - - - - Johan den Dunnen
?/. 1 5 c.976G>A r.(?) p.(Gly326Ser) - VUS g.36234016C>T g.36234019C>T NM_005476.5:c.883G>A (G295S) - GNE_000086 - from website {DBsub-Emory} - - Unknown - - - - - Madhuri Hegde
+?/. 1 5 c.983T>C r.(?) p.(Met328Thr) - likely pathogenic g.36234009A>G g.36234012A>G - - GNE_000094 - PubMed: Celeste 2014, Journal: Celeste 2014 - - Unknown ? - - - - Frank Celeste
+/. 1 5 c.986T>C r.(?) p.(Ile329Thr) - pathogenic g.36234006A>G g.36234009A>G T>C (I298T) - GNE_000046 - PubMed: Saechao 2010 - - Germline - - - - - Johan den Dunnen
+/. 3 5 c.1000_1001delinsGT r.(?), r.1000_1001delinsgu p.(Cys334Val), p.Cys334Val - pathogenic, pathogenic (recessive) g.36233991_36233992delinsAC g.36233994_36233995delinsAC 907_908delinsGT (C303V), 958_959delTGinsGT (C303V), C303V - GNE_000041 - PubMed: Izumi 2015, Izumi 2020 (submitted), PubMed: Tomimitsu 2004, 1 more item - rs121908633 Germline yes - - - - Johan den Dunnen
+/. 2 5 c.1002T>A r.(?) p.(Cys334*) - pathogenic g.36233990A>T g.36233993A>T 960T>A (C303X), C303X - GNE_000008 not in 132 control chromosomes PubMed: Eisenberg 2001, PubMed: Eisenberg 2003, OMIM:var0009, PubMed: Huizing 2004 - - Germline - - BbvCI+ - - Johan den Dunnen
+/. 2 5 c.1003G>A r.(?) p.(Gly304Arg), p.(Gly335Arg) - pathogenic, pathogenic (recessive) g.36233989C>T g.36233992C>T 910G>A (Gly304Arg), NM_005476.4:c.910G>A - GNE_000124 - PubMed: Nalini 2013, PubMed: Yu 2017 - - Germline - - - - - Johan den Dunnen
+/. 1 5 c.1010G>A r.(?) p.(Arg337Gln) - pathogenic g.36233982C>T g.36233985C>T 968G>A (R306Q) - GNE_000042 - PubMed: Nishino 2002 - - Germline - - - - - Johan den Dunnen
+/. 2 5 c.1021G>C r.(?) p.(Ala341Pro) - pathogenic g.36233971C>G g.36233974C>G 928G>C (A310P) - GNE_000043 - PubMed: Stober 2010 - - Germline - - - - - Johan den Dunnen
?/. 2 5 c.1054C>T r.(?) p.(Arg352Cys) - VUS g.36233938G>A g.36233941G>A - - GNE_000155 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 2 5i_6 c.1076-245_1146delinsGTA r.spl? p.? - pathogenic g.36229035_36229350delinsTAC g.36229038_36229353delinsTAC - - GNE_000122 - PubMed: Zhu 2017 - - Germline yes - - - - Johan den Dunnen
+/. 1 6 c.1085T>C r.(?) p.(Val362Ala) - pathogenic g.36229096A>G g.36229099A>G 1043T>C (V331A) - GNE_000047 - PubMed: Nishino 2002 - - Germline - - - - - Johan den Dunnen
+/., +?/., ?/. 6 6 c.1096C>T r.(?) p.(Arg366Trp) - likely pathogenic, pathogenic, VUS g.36229085G>A g.36229088G>A 1003C>T, C>T (R335W) - GNE_000048 - PubMed: Celeste 2014, Journal: Celeste 2014, PubMed: Fisher 2006, PubMed: Nallamilli 2018, 1 more item - - Germline, Unknown ?, yes - - - - Johan den Dunnen, Madhuri Hegde, Frank Celeste
+/. 1 6 c.1132_1135delinsA r.(?) p.(Leu378_His379delinsAsn) - pathogenic g.36229046_36229049delinsT g.36229049_36229052delinsT CTGC>A (L347del, H348N) - GNE_000049 - PubMed: Fisher 2006 - - Germline yes - - - - Johan den Dunnen
+/. 1 6 c.1150A>G r.(?) p.(Lys384Glu) - pathogenic g.36229031T>C g.36229034T>C 1057A>G (K353E) - GNE_000107 not in 376 normal chromosomes PubMed: Tanboon 2014 - - Germline - - - - - Johan den Dunnen
?/. 1 6 c.1156T>C r.(?) p.(Tyr386His) - VUS g.36229025A>G g.36229028A>G - - GNE_000154 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
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