All transcript 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.

319 entries on 4 pages. Showing entries 1 - 100.
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Effect     

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     
?/. - c.-409G>A VUS r.(?) p.(=) g.46685735C>T - - - LURAP1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - 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 - - - 0 - VKGL-NL_Leiden
+/. 1i_8i c.(-51+1_-50-1)_(751+1_752-1)del - r.? p.0? g.(46660074_46660224)_(46663544_46685376)del - - - POMGNT1_000134 - PubMed: Saredi 2012 - - Germline - - - 0 - Johan den Dunnen
+/+? 2i_8i c.(-51+1_-50-1)_(751+1_752-1)del - r.? p.? g.(46660074_46660224)_(46663544_46685376)del - deletion exons 2–8 - POMGNT1_000134 1 Italian MDDGA3 (MEB) patient (com-het) - - - SUMMARY record - - - 0 - Johan den Dunnen
-/. 2 c.-11G>A - r.(?) p.(=) g.46663504C>T - - - POMGNT1_000040 other pathogenic change in one patient PubMed: Godfrey 2007 - - Germline - - - 0 - Johan den Dunnen
+/. - 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 - - - 0 - VKGL-NL_Nijmegen
+/. 2 c.25dup - r.(?) p.(Leu9Profs*20) g.46663469dup - 25_26insC - POMGNT1_000052 - PubMed: Hehr 2007 - - Germline - - - 0 - Rosário dos Santos
+/+? 2 c.25dup - r.(25dup) p.(Leu9Profs*20) g.46663469dup g.46197797dup 25_26insC - POMGNT1_000052 1 German MDDGA3 (MEB) patient (com-het) - - - SUMMARY record - - - 0 - Johan den Dunnen
?/. - 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 - - - 0 - VKGL-NL_Rotterdam
?/. 2 c.46C>T - r.(?) p.(Arg16Trp) g.46663448G>A - - - POMGNT1_000010 - - - rs34058684 Germline - 0.01 - 0 - Johan den Dunnen
-?/. - 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 - - - 0 - VKGL-NL_AMC
-?/. - 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 - - - 0 - VKGL-NL_Rotterdam
+/. - c.187C>T pathogenic r.(?) p.(Arg63*) g.46662690G>A - POMGNT1:c.187C>T (R63*) - POMGNT1_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+?/. - c.187C>T likely pathogenic r.(?) p.(Arg63*) g.46662690G>A - POMGNT1:c.187C>T (R63*) - POMGNT1_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 3 c.187C>T - r.(?) p.(Arg63*) g.46662690G>A - - - POMGNT1_000009 - PubMed: Taniguchi 2003, OMIM:var0009 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.187C>T - r.(?) p.(Arg63*) g.46662690G>A - - - POMGNT1_000009 - PubMed: Taniguchi 2003, OMIM:var0009 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.187C>T - r.(?) p.(Arg63*) g.46662690G>A - 281C>T (R63X) - POMGNT1_000076 - PubMed: Mercuri 2009 - - Germline - - - 0 - Johan den Dunnen
-/. 3i c.235+33T>G - r.(?) p.(=) g.46662609A>C - - - POMGNT1_000041 found in several patients PubMed: Godfrey 2007 - - Germline - - - 0 - Johan den Dunnen
-/. 3i c.235+33T>G - r.(?) p.(=) g.46662609A>C - - - POMGNT1_000041 - from website {DBsub-Emory} - - Unknown - - - 0 - Madhuri Hegde
-/. - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - c.236-13T>C likely benign r.(=) p.(=) g.46662534A>G - POMGNT1:c.236-13T>C - POMGNT1_000065 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. 3i c.236-13T>C - r.(?) p.(=) g.46662534A>G - - - POMGNT1_000065 - from website {DBsub-Emory} - - Unknown - - - 0 - Madhuri Hegde
?/. 4 c.244C>T - r.(?) p.(=) g.46662513G>A - - - POMGNT1_000059 - - - rs34212808 Germline - 0.34 - 0 - Johan den Dunnen
-?/. - 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 - - - 0 - VKGL-NL_Leiden
+/. - c.296T>C - r.(?) p.(Leu99Pro) g.46662461A>G - - - POMGNT1_000156 - PubMed: Xu 2017 - - Germline - - - 0 - Xiaona Fu
-?/. - 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 - - - 0 - VKGL-NL_Nijmegen
+/. 4 c.350del - r.(?) p.(Thr118Argfs*26) g.46662407del - 350delC - POMGNT1_000075 - PubMed: Mercuri 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.351del - r.(?) p.(Thr118Argfs*26) g.46662406del - 350delC - POMGNT1_000196 - PubMed: Saredi 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 4 c.351del - r.(?) p.(Thr118Argfs*26) g.46662406del - 350delC - POMGNT1_000196 - PubMed: Saredi 2012 - - Germline - - - 0 - Johan den Dunnen
+/+? 4 c.351del - r.(351del) p.(Thr118Argfs*26) g.46662406del g.46196734del 350delC - POMGNT1_000196 2 Italian MDDGA3 (MEB) patients (both com-het) and 1 MDDGA3 (MEB) patient (com-het) with unknown ethnicity - - - SUMMARY record - - - 0 - Johan den Dunnen
-/. 4i c.355-27C>T - r.(?) p.(=) g.46661776G>A - - - POMGNT1_000042 found in one patient PubMed: Godfrey 2007 - - Germline - - - 0 - Johan den Dunnen
-/. 4i c.355-27C>T - r.(?) p.(=) g.46661776G>A - - - POMGNT1_000042 - from website {DBsub-Emory} - - Unknown - - - 0 - Madhuri Hegde
+/. 5i_6 c.421-29_452del - r.spl p.? g.46661565_46661625del - 421-29_452del61 - POMGNT1_000049 - PubMed: Bouchet 2007 - - Germline yes - - 0 - Johan den Dunnen
+/. 6 c.447del - r.(?) p.(Phe149Leufs*19) g.46661570del - 447delT - POMGNT1_000015 - PubMed: Taniguchi 2003, PubMed: Manya 2003 - - Germline - - - 0 - Johan den Dunnen
+/+? 6 c.447del - r.(447del) p.(Phe149Leufs*19) g.46661570del g.46195898del 541delT - POMGNT1_000015 1 Japan MDDGA3 (MEB) patient (com-het) - - - SUMMARY record - - - 0 - Johan den Dunnen
+/. 6 c.447dup - r.(?) p.(Asp150*) g.46661570dup - 447dupT - POMGNT1_000028 not in 188 control chromosomes PubMed: Longman 2004 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.447dup - r.(?) p.(Asp150*) g.46661570dup - 447dupT A(sp150fsX) - POMGNT1_000028 - PubMed: Clement - - Germline - - - 0 - Johan den Dunnen
-/. 6 c.458C>G - r.(?) p.(Ser153*) g.46661559G>C - - - POMGNT1_000046 - PubMed: Manya 2008 - - Germline - - - 0 - Johan den Dunnen
?/. - 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 - - - 0 - VKGL-NL_Nijmegen
+/. 6 c.526A>C - r.(?) p.(Thr176Pro) g.46661491T>G - - - POMGNT1_000043 - PubMed: Godfrey 2007 - - Germline - - - 0 - Johan den Dunnen
+?/+? 6 c.526A>C - r.(526a>c) p.(Thr176Pro) g.46661491T>G g.46195819T>G Thr176Pro - POMGNT1_000043 1 MDDGA3 (MEB) patient (hom) with unknown ethnicity - - - SUMMARY record - - - 0 - Johan den Dunnen
+/. 7 c.575T>C - r.(?) p.(Leu192Pro) g.46660593A>G - - - POMGNT1_000150 - PubMed: Jiao 2013 - - Germline - - - 0 - Johan den Dunnen
+?/+? 7 c.575T>C - r.(575u>c) p.(Leu192Pro) g.46660593A>G g.46194921A>G - - POMGNT1_000150 1 Chinese MDDGA3 (MEB) patient (com-het) - - - SUMMARY record - - - 0 - Johan den Dunnen
+/. 7 c.593del - r.(?) p.(Ser198Thrfs*43) g.46660575del - 593delG - POMGNT1_000051 - PubMed: Hehr 2007 - - Germline - - - 0 - Rosário dos Santos
+/. 7 c.593del - r.(?) p.(Ser198Thrfs*43) g.46660575del - 593del premTerm240 - POMGNT1_000051 - PubMed: Hehr 2007 - - Germline - - - 0 - Johan den Dunnen
+/+? 7 c.593del - r.(593del) p.(Ser198Thrfs*43) g.46660575del g.46194903del 593delG - POMGNT1_000051 1 American and 1 German MDDGA3 (MEB) patient (both com-het) - - - SUMMARY record - - - 0 - Johan den Dunnen
./. - c.594C>G - r.(?) p.(Ser198Arg) g.46660574G>C g.46194902G>C - - POMGNT1_000137 1 Italian MDDGA3(MEB) patient (com-het) PubMed: Biancheri et al. 2001 - - SUMMARY record - - - - - Anne Polvi
+/. 7 c.594C>G - r.(?) p.(Ser198Arg) g.46660574G>C - - - POMGNT1_000137 - PubMed: Mercuri 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 7 c.630G>T - r.(?) p.(Trp210Cys) g.46660538C>A - - - POMGNT1_000050 not in 200 control chromosomes PubMed: Bouchet 2007 - - Germline - - - 0 - Johan den Dunnen
+/+? 7 c.636C>T - r.spl p.? g.46660532G>A g.46194860G>A - - POMGNT1_000030 1 MDDGA3 (MEB) patient (hom) of unknown ethnicity - - - SUMMARY record - - - 0 - Anne Polvi
+/. 7 c.636C>T - r.535_652del p.Asp179Valfs*23 g.46660532G>A - - - POMGNT1_000030 - PubMed: Bouchet 2007 - - Germline - - - 0 - Johan den Dunnen
+/. 7 c.636C>T - r.(?) p.(=) g.46660532G>A - - - POMGNT1_000030 - from website {DBsub-Emory} - - Unknown - - - 0 - Madhuri Hegde
+/. 7 c.636C>T - r.535_652del p.Asp179Valfs*23 g.46660532G>A - - - POMGNT1_000030 - PubMed: Oliveira 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 7 c.636C>T - r.(=) p.(=) g.46660532G>A - - - POMGNT1_000030 - PubMed: Mercuri 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 7 c.643C>T - r.535_652del p.Asp179Valfs*23 g.46660525G>A - - - POMGNT1_000139 - PubMed: Saredi 2012 - - Germline - - - 0 - Johan den Dunnen
+/+? 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 - - - SUMMARY record - - - 0 - Johan den Dunnen
+?/+? 7i c.652+1G>A - r.spl p.? g.46660515C>T g.46194843C>T - - POMGNT1_000044 1 MDDGA3(MEB) patient (com-het) with unknown ethnicity - - - SUMMARY record - - - 0 - Anne Polvi
+/. 7i c.652+1G>A - r.spl? p.? g.46660515C>T - - - POMGNT1_000044 - PubMed: Godfrey 2007 - - Germline - - - 0 - Johan den Dunnen
-?/. - 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 - - - 0 - VKGL-NL_Rotterdam
+/. 8 c.667G>A - r.(?) p.(Glu223Lys) g.46660309C>T - - - POMGNT1_000016 - PubMed: Taniguchi 2003, PubMed: Manya 2003 - - Germline - - - 0 - Johan den Dunnen
+/. 8 c.667G>A - r.(?) p.(Glu223Lys) g.46660309C>T - - - POMGNT1_000016 - PubMed: Taniguchi 2003, PubMed: Manya 2003 - - Germline - - - 0 - Johan den Dunnen
+/+? 8 c.667G>A - r.(667g>a) p.(Glu223Lys) g.46660309C>T g.46194637C>T 761G>A - POMGNT1_000016 1 Japanese and 1 Belgian MDDGA3 (MEB) patient (both com-het) - - - SUMMARY record - - - 0 - Johan den Dunnen
-/. - c.681A>G benign r.(=) p.(=) g.46660295T>C - POMGNT1:c.681A>G (=) - POMGNT1_000045 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.681A>G benign r.(=) p.(=) g.46660295T>C - POMGNT1:c.681A>G (=) - POMGNT1_000045 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.681A>G benign r.(=) p.(=) g.46660295T>C - POMGNT1:c.681A>G (=) - POMGNT1_000045 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.681A>G benign r.(=) p.(=) g.46660295T>C - POMGnT1:NM_017739.3:c.681A>G (= (Lys227Lys) - POMGNT1_000045 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. 8 c.681A>G - r.(?) p.(?) g.46660295T>C - - - POMGNT1_000045 other pathogenic change in several patients PubMed: Godfrey 2007 - rs2292487 Germline - - - 0 - Johan den Dunnen
-/. 8 c.681A>G - r.(?) p.(=) g.46660295T>C - - - POMGNT1_000045 - from website {DBsub-Emory} - rs2292487 Unknown - - - 0 - Madhuri Hegde
+?/+? 8 c.703G>C - r.(?) p.(Gly235Arg) g.46660273C>G g.46194601C>G - - POMGNT1_000154 1 Turkish patient (hom) with MDDGA3 (MEB) - - - SUMMARY record - - - 0 - Anne Polvi
+/. 8 c.703G>C - r.(?) p.(Gly235Arg) g.46660273C>G - - - POMGNT1_000154 - PubMed: Yis 2014 - - Germline - - - 0 - Johan den Dunnen
+?/+? 9 c.794G>A - r.(?) p.(Arg265His) g.46660031C>T g.46194359C>T 935G>A (R265H) - POMGNT1_000019 1 American MDDGA3 (MEB) family (com-het) and 1 MDDGA3 (MEB) patient with unknown ethnicity (com-het); variants c.794G>A (Arg265His) and c.932G>A (Arg311Gln) segregate together and it is unclear which one is (or if both are) causative - - - SUMMARY record - - - 0 - Anne Polvi
-?/. 9 c.794G>A - r.794g>a p.Arg265His g.46660031C>T - - - POMGNT1_000019 not in 500 normal chromosomes PubMed: Vervoort 2004, PubMed: Vajsar 2006 - - Germline yes - - 0 - Johan den Dunnen
?/. 9 c.794G>A - r.(?) p.(Arg265His) g.46660031C>T - - - POMGNT1_000019 parental DNA not available; not in 200 control chromosomes PubMed: Bouchet 2007 - - Germline - - - 0 - Johan den Dunnen
+/. 9 c.794G>A - r.(?) p.(Arg265His) g.46660031C>T - - - POMGNT1_000019 - PubMed: Willer 2012 - - Germline - - - 0 - Tom Winder
?/. 9 c.794G>A - r.(?) p.(Arg265His) g.46660031C>T - - - POMGNT1_000019 - PubMed: Shenoy 2010 - - Germline - - - 0 - Johan den Dunnen
-?/. 9 c.794G>A - r.(?) p.(Arg265His) g.46660031C>T - 935G>A - POMGNT1_000019 - PubMed: Vervoort 2004, PubMed: Vajsar 2006 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.794G>C - r.(?) p.(Arg265Pro) g.46660031C>G - - - POMGNT1_000157 - PubMed: Xu 2017 - - Germline - - - 0 - Xiaona Fu
-/. 9 c.805_807del - r.(?) p.(Cys269del) g.46660018_46660020del - - - POMGNT1_000047 - PubMed: Manya 2008 - - Germline - - - 0 - Johan den Dunnen
+/+? 9 c.806G>A - r.(?) p.(Cys269Tyr) g.46660019C>T g.46194347C>T 900G>A - POMGNT1_000048 1 Japan MDDGA3 (MEB) patient (com-het) - - - SUMMARY record - - - 0 - Anne Polvi
+/. 9 c.806G>A - r.(?) p.(Cys269Tyr) g.46660019C>T - 900G>A - POMGNT1_000048 - PubMed: Taniguchi 2003, PubMed: Manya 2003, PubMed: Matsumoto 2005 - - Germline - - - 0 - Johan den Dunnen
+/+? 9i c.879+5G>A - r.spl p.? g.46659941C>T g.46194269C>T - - POMGNT1_000026 1 Swedish MDDGA3 (MEB) patient (com-het) - - - SUMMARY record - - - 0 - Anne Polvi
+/. 9i c.879+5G>A - r.spl p.? g.46659941C>T - - - POMGNT1_000026 not in 150 control chromosomes PubMed: Diesen 2004 - - Germline - - - 0 - Johan den Dunnen
+/+? 9i c.879+5G>T - r.spl p.? g.46659941C>A g.46194269C>A - - POMGNT1_000025 1 Finnish MDDGA3 (MEB) patient (com-het) - - - SUMMARY record - - - 0 - Anne Polvi
+?/. - c.879+5G>T likely pathogenic r.spl? p.? g.46659941C>A - POMGNT1:c.879+5G>T - POMGNT1_000025 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. 9i c.879+5G>T - r.879_880ins[gtgau;879+6_879+25] p.Leu294Valfs*8 g.46659941C>A - - - POMGNT1_000025 not in 150 control chromosomes PubMed: Diesen 2004 - - Germline - - - 0 - Johan den Dunnen
-/. 9i c.880-39G>C - r.(?) p.(=) g.46659636C>G - - - POMGNT1_000066 - from website {DBsub-Emory} - - Unknown - - - 0 - Madhuri Hegde
?/. 9i c.880-5C>T - r.(?) p.(=) g.46659602G>A - - - POMGNT1_000067 - from website {DBsub-Emory} - - Unknown - - - 0 - Madhuri Hegde
+/. - c.880-1G>C pathogenic r.spl? p.? g.46659598C>G - POMGNT1:c.880-1G>C - POMGNT1_000175 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.880-1G>C pathogenic r.spl? p.? g.46659598C>G - POMGnT1:NM_017739.3:c.880-1G>C (?) - POMGNT1_000175 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - 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 - - - 0 - VKGL-NL_Nijmegen
?/. 10 c.908C>T - r.(?) p.(Pro303Leu) g.46659569G>A - - - POMGNT1_000054 - - - - Germline - - - 0 - Tom Winder
+/+? 10 c.931C>T - r.(?) p.(Arg311*) g.46659546G>A g.46193874G>A - - POMGNT1_000063 2 Italian MDDGA3 (MEB) patients (both com-het) - - - SUMMARY record - - - 0 - Anne Polvi
+/. 10 c.931C>T - r.(?) p.(Arg311*) g.46659546G>A - - - POMGNT1_000063 - - - - Germline - - - 0 - Tom Winder
+/. 10 c.931C>T - r.931c>u p.Arg311* g.46659546G>A - - - POMGNT1_000063 - PubMed: Saredi 2012 - - Germline - - - 0 - Johan den Dunnen
+/. 10 c.931C>T - r.(?) p.(Arg311*) g.46659546G>A - - - POMGNT1_000063 - PubMed: Biancheri 2006 - - Germline - - - 0 - Johan den Dunnen
+/. 10 c.931C>T - r.(?) p.(Arg311*) g.46659546G>A - - - POMGNT1_000063 - PubMed: Biancheri 2006, PubMed: Mercuri 2009 - - Germline - - - 0 - Johan den Dunnen
-?/-? 10 c.932G>A - r.(?) p.(Arg311Gln) g.46659545C>T g.46193873C>T 1073G>A (R311Q) - POMGNT1_000008 1 American MEB family (com-het), 1 French MEB patient (com-het) and 1 MEB patient with unknown ethnicity (com-het); variants c.794G>A (Arg265His) and c.932G>A (Arg311Gln) segregate together and it is unclear which one is (or if both are) causative - - - SUMMARY record - - - 0 - Anne Polvi
+/. - c.932G>A pathogenic r.(?) p.(Arg311Gln) g.46659545C>T - POMGNT1:c.932G>A (R311Q) - POMGNT1_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. 10 c.932G>A - r.932g>a p.Arg311Gln g.46659545C>T - - - POMGNT1_000008 not in 500 normal chromosomes PubMed: Vervoort 2004, PubMed: Vajsar 2006, OMIM:var0008 - - Germline yes - NgoMN- 0 - Johan den Dunnen
+?/. 10 c.932G>A - r.(?) p.(Arg311Gln) g.46659545C>T - - - POMGNT1_000008 parental DNA not available; not in 200 control chromosomes PubMed: Bouchet 2007 - - Germline - - - 0 - Johan den Dunnen
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