Unique variants in gene POMGNT1

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_001243766.1 transcript reference sequence.

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

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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 - c.-409G>A VUS r.(?) p.(=) g.46685735C>T - - - LURAP1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.-336_-329del VUS r.(?) p.(=) g.46685655_46685662del - POMGNT1:NM_001013615.2:c.483_490del, NM_001243766.1:c.-336_-329del - POMGNT1_000077 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+?, +/. 2 2i_8i, 1i_8i c.(-51+1_-50-1)_(751+1_752-1)del - r.? p.?, p.0? g.(46660074_46660224)_(46663544_46685376)del - deletion exons 2–8 - POMGNT1_000134 1 Italian MDDGA3 (MEB) patient (com-het) PubMed: Saredi 2012 - - SUMMARY record, Germline - - - - - Johan den Dunnen
-/. 1 2 c.-11G>A - r.(?) p.(=) g.46663504C>T - - - POMGNT1_000040 other pathogenic change in one patient PubMed: Godfrey 2007 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.1A>T pathogenic r.? p.? g.46663493T>A - POMGNT1: (Met1Leu) - POMGNT1_000193 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+?, +/. 2 2 c.25dup - r.(25dup), r.(?) p.(Leu9Profs*20) g.46663469dup g.46197797dup 25_26insC - POMGNT1_000052 1 German MDDGA3 (MEB) patient (com-het) PubMed: Hehr 2007 - - SUMMARY record, Germline - - - - - Johan den Dunnen, Rosário dos Santos
?/. 1 - c.38T>C VUS r.(?) p.(Phe13Ser) g.46663456A>G - POMGNT1:c.38T>C (F13S) - POMGNT1_000183 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 2 c.46C>T - r.(?) p.(Arg16Trp) g.46663448G>A - - - POMGNT1_000010 - - - rs34058684 Germline - 0.01 - - - Johan den Dunnen
-?/. 2 - c.120+13C>T likely benign r.(=) p.(=) g.46663361G>A - POMGNT1:c.120+13C>T - POMGNT1_000182 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
+/., +?/. 5 3, 4 c.187C>T pathogenic, likely pathogenic r.(?) p.(Arg63*) g.46662690G>A - POMGNT1:c.187C>T (R63*), 281C>T (R63X) - POMGNT1_000009, POMGNT1_000076 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Taniguchi 2003, OMIM:var0009, PubMed: Mercuri 2009 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Groningen, Johan den Dunnen, VKGL-NL_Rotterdam
-/. 2 3i c.235+33T>G - r.(?) p.(=) g.46662609A>C - - - POMGNT1_000041 found in several patients PubMed: Godfrey 2007, from website {DBsub-Emory} - - Germline, Unknown - - - - - Johan den Dunnen, Madhuri Hegde
-/. 1 - c.236-16C>G benign r.(=) p.(=) g.46662537G>C - POMGNT1:c.236-16C>G - POMGNT1_000180 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 3i c.236-13T>C likely benign r.(=), r.(?) p.(=) g.46662534A>G - POMGNT1:c.236-13T>C - POMGNT1_000065 VKGL data sharing initiative Nederland; correct HGVS to be checked from website {DBsub-Emory} - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Rotterdam, Madhuri Hegde
?/. 1 4 c.244C>T - r.(?) p.(=) g.46662513G>A - - - POMGNT1_000059 - - - rs34212808 Germline - 0.34 - - - Johan den Dunnen
-?/. 1 - c.275G>T likely benign r.(?) p.(Gly92Val) g.46662482C>A - POMGNT1:NM_001243766.1:c.275G>T, NM_017739.3:c.275G>T - POMGNT1_000178 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.296T>C - r.(?) p.(Leu99Pro) g.46662461A>G - - - POMGNT1_000156 - PubMed: Xu 2017 - - Germline - - - - - Xiaona Fu
-?/. 1 - c.301G>A likely benign r.(?) p.(Val101Ile) g.46662456C>T - POMGnT1:NM_001243766,1:c.301G>A (Val101Ile) - POMGNT1_000192 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 4 c.350del - r.(?) p.(Thr118Argfs*26) g.46662407del - 350delC - POMGNT1_000075 - PubMed: Mercuri 2009 - - Germline - - - - - Johan den Dunnen
+/+?, +/. 3 4 c.351del - r.(351del), r.(?) p.(Thr118Argfs*26) g.46662406del g.46196734del 350delC - POMGNT1_000196 1 more item PubMed: Saredi 2012 - - SUMMARY record, Germline - - - - - Johan den Dunnen
-/. 2 4i c.355-27C>T - r.(?) p.(=) g.46661776G>A - - - POMGNT1_000042 found in one patient PubMed: Godfrey 2007, from website {DBsub-Emory} - - Germline, Unknown - - - - - Johan den Dunnen, Madhuri Hegde
+/. 1 5i_6 c.421-29_452del - r.spl p.? g.46661565_46661625del - 421-29_452del61 - POMGNT1_000049 - PubMed: Bouchet 2007 - - Germline yes - - - - Johan den Dunnen
+/+?, +/. 2 6 c.447del - r.(447del), r.(?) p.(Phe149Leufs*19) g.46661570del g.46195898del 541delT, 447delT - POMGNT1_000015 1 Japan MDDGA3 (MEB) patient (com-het) PubMed: Taniguchi 2003, PubMed: Manya 2003 - - SUMMARY record, Germline - - - - - Johan den Dunnen
+/. 2 6 c.447dup - r.(?) p.(Asp150*) g.46661570dup - 447dupT, 447dupT A(sp150fsX) - POMGNT1_000028 not in 188 control chromosomes PubMed: Longman 2004, PubMed: Clement - - Germline - - - - - Johan den Dunnen
-/. 1 6 c.458C>G - r.(?) p.(Ser153*) g.46661559G>C - - - POMGNT1_000046 - PubMed: Manya 2008 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.512G>T VUS r.(?) p.(Arg171Leu) g.46661505C>A - POMGnT1:NM_017739.3:c.512G>T (Arg171Leu) - POMGNT1_000191 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/+?, +/. 2 6 c.526A>C - r.(526a>c), r.(?) p.(Thr176Pro) g.46661491T>G g.46195819T>G Thr176Pro - POMGNT1_000043 1 MDDGA3 (MEB) patient (hom) with unknown ethnicity PubMed: Godfrey 2007 - - SUMMARY record, Germline - - - - - Johan den Dunnen
+/., +?/+? 2 7 c.575T>C - r.(?), r.(575u>c) p.(Leu192Pro) g.46660593A>G g.46194921A>G - - POMGNT1_000150 1 Chinese MDDGA3 (MEB) patient (com-het) PubMed: Jiao 2013 - - Germline, SUMMARY record - - - - - Johan den Dunnen
+/., +/+? 3 7 c.593del - r.(?), r.(593del) p.(Ser198Thrfs*43) g.46660575del g.46194903del 593del premTerm240, 593delG - POMGNT1_000051 1 American and 1 German MDDGA3 (MEB) patient (both com-het) PubMed: Hehr 2007 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Rosário dos Santos
+/., ./. 2 7 c.594C>G - r.(?) p.(Ser198Arg) g.46660574G>C g.46194902G>C - - POMGNT1_000137 1 Italian MDDGA3(MEB) patient (com-het) PubMed: Mercuri 2009, PubMed: Biancheri et al. 2001 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Anne Polvi
+/. 1 7 c.630G>T - r.(?) p.(Trp210Cys) g.46660538C>A - - - POMGNT1_000050 not in 200 control chromosomes PubMed: Bouchet 2007 - - Germline - - - - - Johan den Dunnen
+/., +/+? 5 7 c.636C>T - r.535_652del, r.(=), r.spl, r.(?) p.Asp179Valfs*23, p.(=), p.? g.46660532G>A g.46194860G>A - - POMGNT1_000030 1 MDDGA3 (MEB) patient (hom) of unknown ethnicity PubMed: Oliveira 2008, PubMed: Mercuri 2009, PubMed: Bouchet 2007, from website {DBsub-Emory} - - Germline, SUMMARY record, Unknown - - - - - Johan den Dunnen, Anne Polvi, Madhuri Hegde
+/+?, +/. 2 7 c.643C>T - r.535_652del p.Asp179Valfs*23 g.46660525G>A g.46194853G>A in-frame skip exon 7 - POMGNT1_000139 1 Italian MDDGA3 (MEB) patient (com-het) and 1 MDDGA3 (MEB) patient (hom) with unknown ethnicity PubMed: Saredi 2012 - - SUMMARY record, Germline - - - - - Johan den Dunnen
+/., +?/+? 2 7i c.652+1G>A - r.spl?, r.spl p.? g.46660515C>T g.46194843C>T - - POMGNT1_000044 1 MDDGA3(MEB) patient (com-het) with unknown ethnicity PubMed: Godfrey 2007 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Anne Polvi
-?/. 1 - c.653-9T>C likely benign r.(=) p.(=) g.46660332A>G - POMGNT1:c.653-9T>C - POMGNT1_000177 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+?, +/. 3 8 c.667G>A - r.(667g>a), r.(?) p.(Glu223Lys) g.46660309C>T g.46194637C>T 761G>A - POMGNT1_000016 1 Japanese and 1 Belgian MDDGA3 (MEB) patient (both com-het) PubMed: Taniguchi 2003, PubMed: Manya 2003 - - SUMMARY record, Germline - - - - - Johan den Dunnen
-/. 6 8 c.681A>G benign r.(=), r.(?) p.(=), p.(?) g.46660295T>C - POMGNT1:c.681A>G (=), POMGnT1:NM_017739.3:c.681A>G (= (Lys227Lys) - POMGNT1_000045 VKGL data sharing initiative Nederland; correct HGVS to be checked, 1 more item PubMed: Godfrey 2007, from website {DBsub-Emory} - rs2292487 CLASSIFICATION record, Germline, Unknown - - - - - VKGL-NL_Groningen, VKGL-NL_AMC, VKGL-NL_Nijmegen, Johan den Dunnen, Madhuri Hegde, VKGL-NL_Rotterdam
+/., +?/+? 2 8 c.703G>C - r.(?) p.(Gly235Arg) g.46660273C>G g.46194601C>G - - POMGNT1_000154 1 Turkish patient (hom) with MDDGA3 (MEB) PubMed: Yis 2014 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Anne Polvi
?/., -?/., +?/+?, +/. 6 9 c.794G>A - r.(?), r.794g>a p.(Arg265His), p.Arg265His g.46660031C>T g.46194359C>T 935G>A, 935G>A (R265H) - POMGNT1_000019 not in 500 normal chromosomes, parental DNA not available; not in 200 control chromosomes, 1 more item PubMed: Shenoy 2010, PubMed: Vervoort 2004, PubMed: Vajsar 2006, PubMed: Bouchet 2007, 1 more item - - Germline, SUMMARY record yes, - - - - - Johan den Dunnen, Anne Polvi, Tom Winder
+/. 1 - c.794G>C - r.(?) p.(Arg265Pro) g.46660031C>G - - - POMGNT1_000157 - PubMed: Xu 2017 - - Germline - - - - - Xiaona Fu
-/. 1 9 c.805_807del - r.(?) p.(Cys269del) g.46660018_46660020del - - - POMGNT1_000047 - PubMed: Manya 2008 - - Germline - - - - - Johan den Dunnen
+/., +/+? 2 9 c.806G>A - r.(?) p.(Cys269Tyr) g.46660019C>T g.46194347C>T 900G>A - POMGNT1_000048 1 Japan MDDGA3 (MEB) patient (com-het) PubMed: Taniguchi 2003, PubMed: Manya 2003, PubMed: Matsumoto 2005 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Anne Polvi
+/., +/+? 2 9i c.879+5G>A - r.spl p.? g.46659941C>T g.46194269C>T - - POMGNT1_000026 not in 150 control chromosomes, 1 Swedish MDDGA3 (MEB) patient (com-het) PubMed: Diesen 2004 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Anne Polvi
+?/., +/., +/+? 3 9i c.879+5G>T likely pathogenic r.spl?, r.879_880ins[gtgau;879+6_879+25], r.spl p.?, p.Leu294Valfs*8 g.46659941C>A g.46194269C>A POMGNT1:c.879+5G>T - POMGNT1_000025 VKGL data sharing initiative Nederland; correct HGVS to be checked, not in 150 control chromosomes, 1 more item PubMed: Diesen 2004 - - CLASSIFICATION record, Germline, SUMMARY record - - - - - VKGL-NL_Groningen, Johan den Dunnen, Anne Polvi
-/. 1 9i c.880-39G>C - r.(?) p.(=) g.46659636C>G - - - POMGNT1_000066 - from website {DBsub-Emory} - - Unknown - - - - - Madhuri Hegde
?/. 1 9i c.880-5C>T - r.(?) p.(=) g.46659602G>A - - - POMGNT1_000067 - from website {DBsub-Emory} - - Unknown - - - - - Madhuri Hegde
+/. 2 - c.880-1G>C pathogenic r.spl? p.? g.46659598C>G - POMGnT1:NM_017739.3:c.880-1G>C (?), POMGNT1:c.880-1G>C - POMGNT1_000175 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Rotterdam
+?/., ?/. 2 10 c.908C>T likely pathogenic r.(?) p.(Pro303Leu) g.46659569G>A - POMGNT1:NM_001243766.1:c.908C>T (Pro303Leu) - POMGNT1_000054 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, Tom Winder
+/., +/+? 5 10 c.931C>T - r.(?), r.931c>u p.(Arg311*), p.Arg311* g.46659546G>A g.46193874G>A - - POMGNT1_000063 2 Italian MDDGA3 (MEB) patients (both com-het) PubMed: Biancheri 2006, PubMed: Biancheri 2006, PubMed: Mercuri 2009, PubMed: Saredi 2012 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Anne Polvi, Tom Winder
?/., +/., -?/-?, +?/. 8 10 c.932G>A pathogenic r.(?), r.932g>a p.(Arg311Gln), p.Arg311Gln g.46659545C>T g.46193873C>T 1073G>A, 1073G>A (R311Q), POMGNT1:c.932G>A (R311Q) - POMGNT1_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked, not in 500 normal chromosomes, 2 more items PubMed: Shenoy 2010, PubMed: Vervoort 2004, PubMed: Vajsar 2006, PubMed: Bouchet 2007, 3 more items - - Germline, SUMMARY record, CLASSIFICATION record yes, - - NgoMN- - - Johan den Dunnen, Anne Polvi, VKGL-NL_Groningen, Tom Winder
-?/. 1 - c.950+3A>G likely benign r.spl? p.? g.46659524T>C - POMGNT1:c.950+3A>G - POMGNT1_000174 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 11 c.956T>C - r.(?) p.(Leu319Pro) g.46659306A>G - - - POMGNT1_000056 - - - - Germline - - - - - Tom Winder
+?/. 1 11 c.961T>C - r.(?) p.(Ser321Pro) g.46659301A>G - - - POMGNT1_000074 - - - - Germline - - - - - Tom Winder
+/+?, +/. 2 11 c.982dup - r.(982dup), r.(?) p.(Val328Glyfs*11) g.46659280dup g.46193608dup 1077insG - POMGNT1_000017 1 Japan MDDGA3 (MEB) patient (com-het) PubMed: Taniguchi 2003, PubMed: Manya 2003, PubMed: Matsumoto 2005 - - SUMMARY record, Germline - - - - - Johan den Dunnen
+/., +/+? 6 11 c.1011dup - r.(?) p.(Asp338*) g.46659251dup g.46193579dup 1011insT, 1011dupT, 1106insT, c.1011insT - POMGNT1_000018 1 Korean patient (com-het) with probable MDDGA3 (MEB), muscle extract POMGnT1 to GnT1 ratio 0.02 PubMed: Lim 2013, PubMed: Taniguchi 2003, PubMed: Matsumoto 2005, 1 more item - - Germline, SUMMARY record - - - - - Johan den Dunnen, Anne Polvi
-/. 2 11i c.1027-44A>G benign r.(=), r.(?) p.(=) g.46659104T>C - POMGNT1:c.1027-44A>G - POMGNT1_000068 VKGL data sharing initiative Nederland; correct HGVS to be checked from website {DBsub-Emory} - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_AMC, Madhuri Hegde
+?/+?, +/. 2 12 c.1100G>A - r.(?) p.(Arg367His) g.46658987C>T g.46193315C>T - - POMGNT1_000032 1 MDDGA3 (MEB) patient (com-het) with unknown ethnicity PubMed: Godfrey 2007 - - SUMMARY record, Germline - - - - - Anne Polvi, Johan den Dunnen
-/. 1 - c.1110+20G>C benign r.(=) p.(=) g.46658957C>G - POMGNT1:c.1110+20G>C - POMGNT1_000172 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 3 12i c.1111-23C>T benign r.(?), r.(=) p.(=) g.46658910G>A - POMGNT1:c.1111-23C>T - POMGNT1_000033 other pathogenic change in several patients, 1 more item PubMed: Godfrey 2007, from website {DBsub-Emory} - - Germline, CLASSIFICATION record, Unknown - - - - - Johan den Dunnen, VKGL-NL_Rotterdam, Madhuri Hegde
-?/. 1 - c.1111-9C>T likely benign r.(=) p.(=) g.46658896G>A - POMGNT1:c.1111-9C>T - POMGNT1_000170 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.1202A>T likely pathogenic r.(?) p.(Asp401Val) g.46658581T>A - POMGnT1:NM_017739.3:c.1202A>T (Asp401Val) - POMGNT1_000189 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.1212-66T>C benign r.(=) p.(=) g.46658328A>G - POMGNT1:c.1212-66T>C - POMGNT1_000169 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 2 - c.1257G>A benign r.(=) p.(=) g.46658217C>T - POMGNT1:c.1257G>A (=) - POMGNT1_000168 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
+/., +?/+? 3 15 c.1274G>C - r.(?) p.(Trp425Ser) g.46658200C>G g.46192528C>G - - POMGNT1_000012 not in 250 control chromosomes, 1 more item PubMed: Lim 2013, PubMed: Diesen 2004, PubMed: Pascual-Castroviejo - - Germline, SUMMARY record - - TaqI+ - - Johan den Dunnen, Anne Polvi
+/. 2 15 c.1279G>C - r.(?) p.(Asp427His) g.46658195C>G - Asp427His - POMGNT1_000029 not in 188 control chromosomes PubMed: Longman 2004, PubMed: Clement - - Germline - - - - - Johan den Dunnen
+/., +/+? 5 15i c.1285-2A>G - r.[1284_1285ins[1284+1_1285-3;gg], 1285_1413del], r.spl, r.spl? p.Gln428_Gly429insVGWNDQGLAGEFMRPQLIPPTMAPCPR, p.? g.46658110T>C g.46192438T>C - - POMGNT1_000021 not in 250 control chromosomes, 1 more item PubMed: Biancheri 2006, PubMed: Biancheri 2006, PubMed: Mercuri 2009, PubMed: Diesen 2004, 1 more item - - Germline, SUMMARY record - - SmaI+ - - Johan den Dunnen, Anne Polvi
+?/. 1 16 c.1286G>A - r.(?) p.(Gly429Glu) g.46658107C>T - - - POMGNT1_000064 - - - - Germline - - tlwinder - - Tom Winder
+?/+?, +/. 2 16 c.1319T>G - r.(1319u>g), r.(?) p.(Leu440Arg) g.46658074A>C g.46192402A>C - - POMGNT1_000106 1 Chinese MDDGA3 (MEB) family (com-het), 1 more item PubMed: Jiao 2011, PubMed: Jiao 2013 - - SUMMARY record, Germline -, yes - - - - Johan den Dunnen
+/., +/+? 8 16 c.1324C>T pathogenic r.(?), r.1324c>u p.(Arg442Cys), p.Arg442Cys g.46658069G>A g.46192397G>A 1465C>T, POMGNT1:c.1324C>T (R442C), 1465C>T, R442C, R442C - POMGNT1_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked, not in 500 normal chromosomes, 1 more item PubMed: Vervoort 2004, PubMed: Vajsar 2006, PubMed: Vervoort 2004, PubMed: Vajsar 2006, OMIM:var0007, 1 more item - rs28940869 Germline, CLASSIFICATION record, SUMMARY record yes, - - - - - Johan den Dunnen, VKGL-NL_Groningen, Anne Polvi, Rosário dos Santos, Tom Winder
+?/., +/., -/. 6 16 c.1325G>A likely pathogenic r.(?) p.(Arg442His) g.46658068C>T g.46192396C>T POMGNT1:NM_001243766.1:c.1325G>A (Arg442His), Arg442His, R442H - POMGNT1_000014 VKGL data sharing initiative Nederland; correct HGVS to be checked, 1 more item PubMed: Manya 2008, PubMed: Haliloglu 2004, PubMed: Hehr 2007 - - CLASSIFICATION record, SUMMARY record, Germline - - - - - VKGL-NL_Nijmegen, Anne Polvi, Johan den Dunnen, Rosário dos Santos, Tom Winder
+/., +?/+? 2 16 c.1325G>T - r.(?), r.(1325g>u) p.(Arg442Leu) g.46658068C>A g.46192396C>A - - POMGNT1_000148 1 Chinese MDDGA3 patient (com-het) PubMed: Jiao 2013 - - Germline, SUMMARY record - - - - - Johan den Dunnen
+/+?, +/. 2 16 c.1342G>C - r.(?) p.(Gly448Arg) g.46658051C>G g.46192379C>G - - POMGNT1_000060 1 Algerian MDDGA3 (MEB) patient (com-het) PubMed: Vuillaumier-Barrot 2011 - - SUMMARY record, Germline - - - - - Anne Polvi, Johan den Dunnen
+/. 1 - c.1350_1353del pathogenic r.(?) p.(Trp451Cysfs*57) g.46658040_46658043del - POMGnT1:NM_017739.3:c.1350_1353del (Trp451fs) - POMGNT1_000188 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+?, +/. 5 16 c.1350_1354del - r.(?) p.(Trp451Alafs*11) g.46658039_46658043del g.46192367_46192371del 1350_1354delCTGGG, 1350_1354delCTGGG: premTerm461 - POMGNT1_000053 2 Turkish MDDGA3 (MEB) patients (hom) PubMed: Yis 2014, PubMed: Hehr 2007 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Anne Polvi, Rosário dos Santos
+/., +/+? 2 16 c.1385T>A - r.(?) p.(Leu462His) g.46658008A>T g.46192336A>T - - POMGNT1_000152 1 Korean patient with propable MDDGA3 (MEB) PubMed: Lim 2013 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Anne Polvi
-?/. 1 - c.1407G>A likely benign r.(=) p.(=) g.46657986C>T - POMGNT1:c.1407G>A (P469=) - POMGNT1_000167 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 16 c.1411A>T - r.(?) p.(Lys471*) g.46657982T>A - - - POMGNT1_000069 - from website {DBsub-Emory} - - Unknown - - - - - Madhuri Hegde
+/. 1 - c.1413+1G>A pathogenic r.spl? p.? g.46657979C>T - POMGNT1:c.1413+1G>A - POMGNT1_000165 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.1413+1G>T pathogenic r.spl? p.? g.46657979C>A - POMGNT1:c.1413+1G>T - POMGNT1_000166 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 16i c.1414-38G>A - r.(?) p.(=) g.46657933C>T - 1413+47G>A - POMGNT1_000070 - from website {DBsub-Emory} - - Unknown - - - - - Madhuri Hegde
+?/., +/. 2 17 c.1425G>A likely pathogenic r.(?) p.(Trp475*) g.46657884C>T - POMGNT1:c.1425G>A (W475*) - POMGNT1_000034 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Godfrey 2007 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Groningen, Johan den Dunnen
+/. 1 - c.1429_1430del pathogenic r.(?) p.(Met477Valfs*6) g.46657879_46657880del - POMGNT1:NM_001243766.1(POMGNT1):c.1429_1430del (Met477fs) - POMGNT1_000187 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1456C>G VUS r.(?) p.(Arg486Gly) g.46657853G>C - POMGNT1:c.1456C>G (R486G) - POMGNT1_000163 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 17 c.1462C>G - r.(?) p.(Arg488Gly) g.46657847G>C - - - POMGNT1_000057 - - - - Germline - - - - - Tom Winder
+/. 1 - c.1462C>T pathogenic r.(?) p.(Arg488*) g.46657847G>A - POMGNT1:NM_001243766.1:c.1462C>T (Arg488*) - POMGNT1_000186 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., ./. 9 17 c.1469G>A - r.(?) p.(Cys490Tyr) g.46657840C>T g.46192168C>T - - POMGNT1_000022 not in 250 control chromosomes, 1 more item PubMed: Diesen 2004, PubMed: Godfrey 2007, PubMed: Mercuri 2009, PubMed: Bouchet 2007 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Anne Polvi, Tom Winder
+/., +/+? 3 17 c.1478C>G - r.(?) p.(Pro493Arg) g.46657831G>C g.46192159G>C C1572G, 1572C>G - POMGNT1_000005 not in 246 control chromosomes, 1 French MDDGA3 (MEB) patient (com-het) PubMed: Zhang 2003, PubMed: Yoshida 2001, PubMed: Zhang 2003, PubMed: Manya 2003, OMIM:var0005 - rs28942068 Germline, SUMMARY record - - - - - Johan den Dunnen, Anne Polvi
?/. 1 - c.1483G>C VUS r.(?) p.(Val495Leu) g.46657826C>G - POMGNT1:c.1483G>C (V495L) - POMGNT1_000162 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 17 c.1496A>G - r.(?) p.(Tyr499Cys) g.46657813T>C - 1496G>A (Cys490Tyr) - POMGNT1_000199 - PubMed: Raducu 2014 - - Germline - - - - - Johan den Dunnen
-/. 1 17 c.1510G>A - r.(?) p.(Val504Ile) g.46657799C>T - - - POMGNT1_000058 - from website {DBsub-Emory} - rs17102066 Unknown - - - - - Madhuri Hegde
+?/., +?/+?, +/. 3 17 c.1513G>A likely pathogenic r.(?), r.(1513g>a) p.(Gly505Ser) g.46657796C>T g.46192124C>T POMGNT1:NM_017739.3:c.1513G>A (Gly505Ser) - POMGNT1_000149 VKGL data sharing initiative Nederland; correct HGVS to be checked, 1 Chinese MDDGA3 patient (com-het) PubMed: Jiao 2013 - - CLASSIFICATION record, SUMMARY record, Germline - - - - - VKGL-NL_Nijmegen, Johan den Dunnen
+/., -/., +/+ 37 17i, 17 c.1539+1G>A pathogenic r.spl, r.spl?, r.1414_1539del, r.[1414_1539del, 1539_1540ins(1539+1_?);1539+1g>a], r.(1414_1539del) p.?, p.Leu472_His513del, p.[Leu472_His513del, Glu514Metfs*13], p.(Leu472_His513del) g.46657769C>T g.46192097C>T POMGNT1:c.1539+1G>A, IVS17+1G>A: Glu514read-through 526Stop/Leu472-His513del, 1 more item - POMGNT1_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked, unknown variant 2nd allele, 4 more items PubMed: Hehr 2007, PubMed: Vajsar 2006, PubMed: Diesen 2004, OMIM:var0002, PubMed: Zhang 2003, 7 more items - - Germline, CLASSIFICATION record, SUMMARY record, Unknown yes, - 3/308 PmlI, tlwinder - - Johan den Dunnen, VKGL-NL_VUmc, VKGL-NL_Utrecht, Anne Polvi, Rosário dos Santos, Tom Winder, VKGL-NL_Nijmegen, Madhuri Hegde
+/., +/+? 4 17i c.1539+1G>T - r.spl p.? g.46657769C>A g.46192097C>A IVS17+1G>T - POMGNT1_000001 not in 246 control chromosomes, 2 Turkish MDDGA3 (MEB) patients (hom) PubMed: Yoshida 2001, OMIM:var0001 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Anne Polvi, Tom Winder
+/+ 1 17i_23_ c.1539+184_*1803del - r.? p.? g.46652588_46657586del g.46186916_46191914del - - POMGNT1_000113 1 Tunisian (hom) MDDGA3 (MEB) patient - - - SUMMARY record - - - - - Anne Polvi
+/. 1 17i_22_ c.1539+184_*2354del - r.spl p.? g.46652037_46657586del - 1539+184_1983+2354del4972 - POMGNT1_000061 5.0 Kb deletion exon 17-22 PubMed: Vuillaumier-Barrot 2011 - - Germline - - - - - Johan den Dunnen
+/+ 1 17i_23_ c.1539+261_*1854del - r.? p.? g.46652537_46657509del g.46186865_46191837del - - POMGNT1_000114 1 Algerian (com-het) MDDGA3 (MEB) patient - - - SUMMARY record - - - - - Anne Polvi
+/. 1 17i_22_ c.1539+261_*2405del - r.(?) p.? g.46651986_46657509del - 1539+261_1983+2405del4972 - POMGNT1_000062 5.0 Kb deletion exon 17-22 PubMed: Vuillaumier-Barrot 2011 - - Germline - - - - - Johan den Dunnen
+/. 3 17i_19i c.1539+358_1650-162del - r.(?) p.(Glu514*) g.46655823_46657412del - g.6668-8257del, g.6668–8257del - POMGNT1_000158 - PubMed: Xu 2017 - - Germline - - - - - Xiaona Fu
-?/. 1 - c.1540-19A>C likely benign r.(=) p.(=) g.46656475T>G - POMGnT1:NM_017739.3:c.1540-19A>C (?) - POMGNT1_000185 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 17i c.1540-16C>T - r.(?) p.(=) g.46656472G>A - - - POMGNT1_000071 - from website {DBsub-Emory} - - Unknown - - - - - Madhuri Hegde
+/+? 2 17i c.1540-2A>G - r.spl p.? g.46656458T>C g.46190786T>C - - POMGNT1_000020 1 Turkish MDDGA3 (MEB) patient (hom) PubMed: Haliloglu 2004, PubMed: Hehr 2007 - - Germline, SUMMARY record - - - - - Johan den Dunnen, Anne Polvi
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