Full data view for 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.

281 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Germline/De novo/Somatic     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

Individual_ID     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 1i_8i c.(-51+1_-50-1)_(751+1_752-1)del - r.? p.0? Maternal (confirmed) g.(46660074_46660224)_(46663544_46685376)del - - - POMGNT1_000134 - PubMed: Saredi 2012 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MEB 22554691-Pat2 PubMed: Saredi 2012 - M - Italy - 17y 0 - - 1 Johan den Dunnen
+/+? 2i_8i c.(-51+1_-50-1)_(751+1_752-1)del - r.? p.? Parent #1 g.(46660074_46660224)_(46663544_46685376)del - deletion exons 2–8 - POMGNT1_000134 1 Italian MDDGA3 (MEB) patient (com-het) - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 2 c.-11G>A - r.(?) p.(=) Unknown g.46663504C>T - - - POMGNT1_000040 other pathogenic change in one patient PubMed: Godfrey 2007 - - Germline - - - 0 - DNA SEQ - - MD - PubMed: Godfrey 2007 - - - - - - 0 - - 1 Johan den Dunnen
+/. 2 c.25dup - r.(?) p.(Leu9Profs*20) Parent #2 g.46663469dup - 25_26insC - POMGNT1_000052 - PubMed: Hehr 2007 - - Germline - - - 0 - DNA SEQ - - MEB 17906881-Pat4 PubMed: Hehr 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Germany - >04y 0 - - 1 Rosário dos Santos
+/+? 2 c.25dup - r.(25dup) p.(Leu9Profs*20) Parent #1 g.46663469dup g.46197797dup 25_26insC - POMGNT1_000052 1 German MDDGA3 (MEB) patient (com-het) - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2 c.46C>T - r.(?) p.(Arg16Trp) Parent #1 g.46663448G>A - - - POMGNT1_000010 - - - rs34058684 Germline - 0.01 - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.120+13C>T likely benign r.(=) p.(=) Unknown g.46663361G>A - POMGNT1:c.120+13C>T - POMGNT1_000182 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.120+13C>T likely benign r.(=) p.(=) Unknown g.46663361G>A - POMGNT1:c.120+13C>T - POMGNT1_000182 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.187C>T pathogenic r.(?) p.(Arg63*) Unknown g.46662690G>A - POMGNT1:c.187C>T (R63*) - POMGNT1_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.187C>T likely pathogenic r.(?) p.(Arg63*) Unknown g.46662690G>A - POMGNT1:c.187C>T (R63*) - POMGNT1_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.187C>T - r.(?) p.(Arg63*) Parent #1 g.46662690G>A - - - POMGNT1_000009 - PubMed: Taniguchi 2003, OMIM:var0009 - - Germline - - - 0 - DNA SEQ - - WWS - PubMed: Taniguchi 2003 - F - Italy - - 0 - - 1 Johan den Dunnen
+/. 3 c.187C>T - r.(?) p.(Arg63*) Parent #2 g.46662690G>A - - - POMGNT1_000009 - PubMed: Taniguchi 2003, OMIM:var0009 - - Germline - - - 0 - DNA SEQ - - WWS - PubMed: Taniguchi 2003 - F - Italy - - 0 - - 1 Johan den Dunnen
+/. 4 c.187C>T - r.(?) p.(Arg63*) Both (homozygous) g.46662690G>A - 281C>T (R63X) - POMGNT1_000076 - PubMed: Mercuri 2009 - - Germline - - - 0 - DNA SEQ - - MDC 19299310-Pat34 PubMed: Mercuri 2009 - - - Italy - - 0 - - 1 Johan den Dunnen
-/. 3i c.235+33T>G - r.(?) p.(=) Unknown g.46662609A>C - - - POMGNT1_000041 found in several patients PubMed: Godfrey 2007 - - Germline - - - 0 - DNA SEQ - - MD - PubMed: Godfrey 2007 - - - - - - 0 - - 1 Johan den Dunnen
-/. 3i c.235+33T>G - r.(?) p.(=) Unknown g.46662609A>C - - - POMGNT1_000041 - from website {DBsub-Emory} - - Unknown - - - 0 - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 3i c.236-13T>C - r.(?) p.(=) Unknown g.46662534A>G - - - POMGNT1_000065 - from website {DBsub-Emory} - - Unknown - - - 0 - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 4 c.244C>T - r.(?) p.(=) Parent #1 g.46662513G>A - - - POMGNT1_000059 - - - rs34212808 Germline - 0.34 - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.296T>C - r.(?) p.(Leu99Pro) Maternal (confirmed) g.46662461A>G - - - POMGNT1_000156 - PubMed: Xu 2017 - - Germline - - - 0 - DNA SEQ-NG - - MEB 28765568-Pat2 PubMed: Xu 2017 - - - China - - 0 - - 1 Xiaona Fu
+/. 4 c.350del - r.(?) p.(Thr118Argfs*26) Parent #1 g.46662407del - 350delC - POMGNT1_000075 - PubMed: Mercuri 2009 - - Germline - - - 0 - DNA SEQ - - MDC 19299310-Pat32 PubMed: Mercuri 2009 - - - Italy - - 0 - - 1 Johan den Dunnen
+/. 4 c.351del - r.(?) p.(Thr118Argfs*26) Paternal (confirmed) g.46662406del - 350delC - POMGNT1_000196 - PubMed: Saredi 2012 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MEB 22554691-Pat2 PubMed: Saredi 2012 - M - Italy - 17y 0 - - 1 Johan den Dunnen
+/. 4 c.351del - r.(?) p.(Thr118Argfs*26) Paternal (confirmed) g.46662406del - 350delC - POMGNT1_000196 - PubMed: Saredi 2012 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MEB 22554691-Pat3 PubMed: Saredi 2012 - F - Italy - - 0 - - 1 Johan den Dunnen
+/+? 4 c.351del - r.(351del) p.(Thr118Argfs*26) Parent #1 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 - - - - - - - - - - - - - - - - - - -
-/. 4i c.355-27C>T - r.(?) p.(=) Unknown g.46661776G>A - - - POMGNT1_000042 found in one patient PubMed: Godfrey 2007 - - Germline - - - 0 - DNA SEQ - - MD - PubMed: Godfrey 2007 - - - - - - 0 - - 1 Johan den Dunnen
-/. 4i c.355-27C>T - r.(?) p.(=) Unknown g.46661776G>A - - - POMGNT1_000042 - from website {DBsub-Emory} - - Unknown - - - 0 - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 5i_6 c.421-29_452del - r.spl p.? Parent #2 g.46661565_46661625del - 421-29_452del61 - POMGNT1_000049 - PubMed: Bouchet 2007 - - Germline yes - - 0 - DNA SEQ - - LIS 17559086-Fam15 PubMed: Bouchet 2007 2 aborted fetuses - - (France) - <00y00m00d 0 - - 2 Johan den Dunnen
+/. 6 c.447del - r.(?) p.(Phe149Leufs*19) Parent #1 g.46661570del - 447delT - POMGNT1_000015 - PubMed: Taniguchi 2003, PubMed: Manya 2003 - - Germline - - - 0 - DNA SEQ - - MDC - PubMed: Taniguchi 2003, PubMed: Manya 2003 - M - Japan - - 0 - - 1 Johan den Dunnen
+/+? 6 c.447del - r.(447del) p.(Phe149Leufs*19) Parent #1 g.46661570del g.46195898del 541delT - POMGNT1_000015 1 Japan MDDGA3 (MEB) patient (com-het) - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 6 c.447dup - r.(?) p.(Asp150*) Parent #2 g.46661570dup - 447dupT - POMGNT1_000028 not in 188 control chromosomes PubMed: Longman 2004 - - Germline - - - 0 - DNA SEQ - - MEB - PubMed: Longman 2004 - M - United Kingdom (Great Britain) Anglo-Irish >2y 0 - - 1 Johan den Dunnen
+/. 6 c.447dup - r.(?) p.(Asp150*) Parent #2 g.46661570dup - 447dupT A(sp150fsX) - POMGNT1_000028 - PubMed: Clement - - Germline - - - 0 - DNA SEQ - - MDC - PubMed: Clement 2008-Pat23 - - - - - - 0 - - 1 Johan den Dunnen
-/. 6 c.458C>G - r.(?) p.(Ser153*) Parent #1 g.46661559G>C - - - POMGNT1_000046 - PubMed: Manya 2008 - - Germline - - - 0 - DNA SEQ - - MDC - PubMed: Manya 2008 - - - - - - 0 - - 1 Johan den Dunnen
+/. 6 c.526A>C - r.(?) p.(Thr176Pro) Both (homozygous) g.46661491T>G - - - POMGNT1_000043 - PubMed: Godfrey 2007 - - Germline - - - 0 - DNA SEQ - - MDC 17878207-Pat18 PubMed: Godfrey 2007 - - - - - - 0 - - 1 Johan den Dunnen
+?/+? 6 c.526A>C - r.(526a>c) p.(Thr176Pro) Both (homozygous) g.46661491T>G g.46195819T>G Thr176Pro - POMGNT1_000043 1 MDDGA3 (MEB) patient (hom) with unknown ethnicity - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 7 c.575T>C - r.(?) p.(Leu192Pro) Parent #1 g.46660593A>G - - - POMGNT1_000150 - PubMed: Jiao 2013 - - Germline - - - 0 - DNA SEQ - - MEB 23689641-Pat3 PubMed: Jiao 2013 - M - China - - 0 - - 1 Johan den Dunnen
+?/+? 7 c.575T>C - r.(575u>c) p.(Leu192Pro) Parent #1 g.46660593A>G g.46194921A>G - - POMGNT1_000150 1 Chinese MDDGA3 (MEB) patient (com-het) - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 7 c.593del - r.(?) p.(Ser198Thrfs*43) Parent #1 g.46660575del - 593delG - POMGNT1_000051 - PubMed: Hehr 2007 - - Germline - - - 0 - DNA SEQ - - MEB 17906881-Pat4 PubMed: Hehr 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Germany - >04y 0 - - 1 Rosário dos Santos
+/. 7 c.593del - r.(?) p.(Ser198Thrfs*43) Parent #1 g.46660575del - 593del premTerm240 - POMGNT1_000051 - PubMed: Hehr 2007 - - Germline - - - 0 - DNA SEQ - - MEB 17906881-Pat1 PubMed: Hehr 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States California, south - 0 - - 1 Johan den Dunnen
+/+? 7 c.593del - r.(593del) p.(Ser198Thrfs*43) Parent #1 g.46660575del g.46194903del 593delG - POMGNT1_000051 1 American and 1 German MDDGA3 (MEB) patient (both com-het) - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.594C>G - r.(?) p.(Ser198Arg) Unknown g.46660574G>C g.46194902G>C - - POMGNT1_000137 1 Italian MDDGA3(MEB) patient (com-het) PubMed: Biancheri et al. 2001 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.594C>G - r.(?) p.(Ser198Arg) Parent #1 g.46660574G>C - - - POMGNT1_000137 - PubMed: Mercuri 2009 - - Germline - - - 0 - DNA SEQ - - MDC 19299310-Pat31 PubMed: Mercuri 2009 - - - Italy - - 0 - - 1 Johan den Dunnen
+/. 7 c.630G>T - r.(?) p.(Trp210Cys) Parent #2 g.46660538C>A - - - POMGNT1_000050 not in 200 control chromosomes PubMed: Bouchet 2007 - - Germline - - - 0 - DNA SEQ - - LIS 17559086-Fam14 PubMed: Bouchet 2007 aborted fetus - - (France) - <00y00m00d 0 - - 1 Johan den Dunnen
+/+? 7 c.636C>T - r.spl p.? Both (homozygous) g.46660532G>A g.46194860G>A - - POMGNT1_000030 1 MDDGA3 (MEB) patient (hom) of unknown ethnicity - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 7 c.636C>T - r.535_652del p.Asp179Valfs*23 Parent #2 g.46660532G>A - - - POMGNT1_000030 - PubMed: Bouchet 2007 - - Germline - - - 0 - DNA, RNA SEQ - - LIS 17559086-Fam17 PubMed: Bouchet 2007 aborted fetus - - (France) - <00y00m00d 0 - - 1 Johan den Dunnen
+/. 7 c.636C>T - r.(?) p.(=) Unknown g.46660532G>A - - - POMGNT1_000030 - from website {DBsub-Emory} - - Unknown - - - 0 - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 7 c.636C>T - r.535_652del p.Asp179Valfs*23 Both (homozygous) g.46660532G>A - - - POMGNT1_000030 - PubMed: Oliveira 2008 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MDC ? PubMed: Oliveira 2008 - F - Portugal - - 0 - - 1 Rosário dos Santos
+/. 7 c.636C>T - r.(=) p.(=) Both (homozygous) g.46660532G>A - - - POMGNT1_000030 - PubMed: Mercuri 2009 - - Germline - - - 0 - DNA SEQ - - MDC 19299310-Pat28 PubMed: Mercuri 2009 - - - Italy - - 0 - - 1 Johan den Dunnen
+/. 7 c.643C>T - r.535_652del p.Asp179Valfs*23 Maternal (confirmed) g.46660525G>A - - - POMGNT1_000139 - PubMed: Saredi 2012 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MEB 22554691-Pat1 PubMed: Saredi 2012 - M - Italy - - 0 - - 1 Johan den Dunnen
+/+? 7 c.643C>T - r.535_652del p.Asp179Valfs*23 Parent #1 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 - - - - - - - - - - - - - - - - - - -
+?/+? 7i c.652+1G>A - r.spl p.? Parent #1 g.46660515C>T g.46194843C>T - - POMGNT1_000044 1 MDDGA3(MEB) patient (com-het) with unknown ethnicity - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 7i c.652+1G>A - r.spl? p.? Parent #2 g.46660515C>T - - - POMGNT1_000044 - PubMed: Godfrey 2007 - - Germline - - - 0 - DNA SEQ - - MDC 17878207-Pat19 PubMed: Godfrey 2007, PubMed: Clement - - - - - - 0 - - 1 Johan den Dunnen
+/. 8 c.667G>A - r.(?) p.(Glu223Lys) Parent #2 g.46660309C>T - - - POMGNT1_000016 - PubMed: Taniguchi 2003, PubMed: Manya 2003 - - Germline - - - 0 - DNA SEQ - - MDC - PubMed: Taniguchi 2003, PubMed: Manya 2003 - M - Japan - - 0 - - 1 Johan den Dunnen
+/. 8 c.667G>A - r.(?) p.(Glu223Lys) Parent #2 g.46660309C>T - - - POMGNT1_000016 - PubMed: Taniguchi 2003, PubMed: Manya 2003 - - Germline - - - 0 - DNA SEQ - - MDC - PubMed: Taniguchi 2003, PubMed: Manya 2003 - F - Belgium - - 0 - - 1 Johan den Dunnen
+/+? 8 c.667G>A - r.(667g>a) p.(Glu223Lys) Parent #1 g.46660309C>T g.46194637C>T 761G>A - POMGNT1_000016 1 Japanese and 1 Belgian MDDGA3 (MEB) patient (both com-het) - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.681A>G benign r.(=) p.(=) Unknown g.46660295T>C - POMGNT1:c.681A>G (=) - POMGNT1_000045 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.681A>G benign r.(=) p.(=) Unknown g.46660295T>C - POMGNT1:c.681A>G (=) - POMGNT1_000045 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.681A>G benign r.(=) p.(=) Unknown g.46660295T>C - POMGNT1:c.681A>G (=) - POMGNT1_000045 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.681A>G benign r.(=) p.(=) Unknown 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 - - - - - - - - - - - - - - - - - - -
-/. 8 c.681A>G - r.(?) p.(?) Unknown g.46660295T>C - - - POMGNT1_000045 other pathogenic change in several patients PubMed: Godfrey 2007 - rs2292487 Germline - - - 0 - DNA SEQ - - MD - PubMed: Godfrey 2007 - - - - - - 0 - - 1 Johan den Dunnen
-/. 8 c.681A>G - r.(?) p.(=) Unknown g.46660295T>C - - - POMGNT1_000045 - from website {DBsub-Emory} - rs2292487 Unknown - - - 0 - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - 0 - - 1 Madhuri Hegde
+?/+? 8 c.703G>C - r.(?) p.(Gly235Arg) Both (homozygous) g.46660273C>G g.46194601C>G - - POMGNT1_000154 1 Turkish patient (hom) with MDDGA3 (MEB) - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 8 c.703G>C - r.(?) p.(Gly235Arg) Both (homozygous) g.46660273C>G - - - POMGNT1_000154 - PubMed: Yis 2014 - - Germline - - - 0 - DNA SEQ - - MEB 24731844-Pat3 PubMed: Yis 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Turkey - - 0 - - 1 Johan den Dunnen
+?/+? 9 c.794G>A - r.(?) p.(Arg265His) Unknown 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 - - - - - - - - - - - - - - - - - - -
-?/. 9 c.794G>A - r.794g>a p.Arg265His Maternal (confirmed) g.46660031C>T - - - POMGNT1_000019 not in 500 normal chromosomes PubMed: Vervoort 2004, PubMed: Vajsar 2006 - - Germline yes - - 0 - DNA, RNA RT-PCR, SSCA, SEQ - - MEB 15236414-FamK6914PatII1 PubMed: Vervoort 2004, PubMed: Vajsar 2006 2-generation family, 2 affecteds (sister/brother), unaffected heterozygous carrier parents F no United States white - 0 - - 2 Johan den Dunnen
?/. 9 c.794G>A - r.(?) p.(Arg265His) Parent #2 g.46660031C>T - - - POMGNT1_000019 parental DNA not available; not in 200 control chromosomes PubMed: Bouchet 2007 - - Germline - - - 0 - DNA SEQ - - LIS 17559086-Fam16 PubMed: Bouchet 2007 aborted fetus - - (France) - <00y00m00d 0 - - 1 Johan den Dunnen
+/. 9 c.794G>A - r.(?) p.(Arg265His) Parent #1 g.46660031C>T - - - POMGNT1_000019 - PubMed: Willer 2012 - - Germline - - - 0 - DNA SEQ - - MEB - PubMed: Willer 2012 - - - (United States) - - 0 - - 1 Tom Winder
?/. 9 c.794G>A - r.(?) p.(Arg265His) Parent #1 g.46660031C>T - - - POMGNT1_000019 - PubMed: Shenoy 2010 - - Germline - - - 0 - DNA SEQ - - MEB 20215985-Pat1 PubMed: Shenoy 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - 0 - - 1 Johan den Dunnen
-?/. 9 c.794G>A - r.(?) p.(Arg265His) Maternal (confirmed) g.46660031C>T - 935G>A - POMGNT1_000019 - PubMed: Vervoort 2004, PubMed: Vajsar 2006 - - Germline yes - - 0 - DNA SEQ - - MEB 15236414-FamK6914PatII3 PubMed: Vervoort 2004, PubMed: Vajsar 2006 PatII3 M no United States white - 0 - - 1 Johan den Dunnen
+/. - c.794G>C - r.(?) p.(Arg265Pro) Paternal (confirmed) g.46660031C>G - - - POMGNT1_000157 - PubMed: Xu 2017 - - Germline - - - 0 - DNA SEQ-NG - - MEB 28765568-Pat3 PubMed: Xu 2017 - - - China - - 0 - - 1 Xiaona Fu
-/. 9 c.805_807del - r.(?) p.(Cys269del) Parent #2 g.46660018_46660020del - - - POMGNT1_000047 - PubMed: Manya 2008 - - Germline - - - 0 - DNA SEQ - - MDC - PubMed: Manya 2008 - - - - - - 0 - - 1 Johan den Dunnen
+/+? 9 c.806G>A - r.(?) p.(Cys269Tyr) Parent #1 g.46660019C>T g.46194347C>T 900G>A - POMGNT1_000048 1 Japan MDDGA3 (MEB) patient (com-het) - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 9 c.806G>A - r.(?) p.(Cys269Tyr) Parent #1 g.46660019C>T - 900G>A - POMGNT1_000048 - PubMed: Taniguchi 2003, PubMed: Manya 2003, PubMed: Matsumoto 2005 - - Germline - - - 0 - DNA SEQ - - MEB 15833426-Pat3 PubMed: Taniguchi 2003, PubMed: Manya 2003, PubMed: Matsumoto 2005 - F - Japan - >01y 0 - - 1 Johan den Dunnen
+/+? 9i c.879+5G>A - r.spl p.? Unknown g.46659941C>T g.46194269C>T - - POMGNT1_000026 1 Swedish MDDGA3 (MEB) patient (com-het) - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 9i c.879+5G>A - r.spl p.? Parent #2 g.46659941C>T - - - POMGNT1_000026 not in 150 control chromosomes PubMed: Diesen 2004 - - Germline - - - 0 - DNA, RNA SSCA, SEQ - - MEB 15466003-Pat20 PubMed: Diesen 2004 - - - Sweden - - 0 - - 1 Johan den Dunnen
+/+? 9i c.879+5G>T - r.spl p.? Parent #1 g.46659941C>A g.46194269C>A - - POMGNT1_000025 1 Finnish MDDGA3 (MEB) patient (com-het) - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 9i c.879+5G>T - r.879_880ins[gtgau;879+6_879+25] p.Leu294Valfs*8 Parent #2 g.46659941C>A - - - POMGNT1_000025 not in 150 control chromosomes PubMed: Diesen 2004 - - Germline - - - 0 - DNA, RNA RT-PCR, SSCA, SEQ - - MEB 15466003-Pat18 PubMed: Diesen 2004 - - - Finland - - 0 - - 1 Johan den Dunnen
-/. 9i c.880-39G>C - r.(?) p.(=) Unknown g.46659636C>G - - - POMGNT1_000066 - from website {DBsub-Emory} - - Unknown - - - 0 - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 9i c.880-5C>T - r.(?) p.(=) Unknown g.46659602G>A - - - POMGNT1_000067 - from website {DBsub-Emory} - - Unknown - - - 0 - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. - c.880-1G>C pathogenic r.spl? p.? Unknown g.46659598C>G - POMGNT1:c.880-1G>C - POMGNT1_000175 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.880-1G>C pathogenic r.spl? p.? Unknown 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 - - - - - - - - - - - - - - - - - - -
?/. 10 c.908C>T - r.(?) p.(Pro303Leu) Both (homozygous) g.46659569G>A - - - POMGNT1_000054 - - - - Germline - - - 0 - DNA PCR, SEQ - - MDC - - - M - Canada Arab - 0 - - 1 Tom Winder
+/+? 10 c.931C>T - r.(?) p.(Arg311*) Parent #1 g.46659546G>A g.46193874G>A - - POMGNT1_000063 2 Italian MDDGA3 (MEB) patients (both com-het) - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 10 c.931C>T - r.(?) p.(Arg311*) Parent #1 g.46659546G>A - - - POMGNT1_000063 - - - - Germline - - - 0 - DNA PCR, SEQ - - MEB - - - - - United States - - 0 - - 1 Tom Winder
+/. 10 c.931C>T - r.931c>u p.Arg311* Paternal (confirmed) g.46659546G>A - - - POMGNT1_000063 - PubMed: Saredi 2012 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MEB 22554691-Pat1 PubMed: Saredi 2012 - M - Italy - - 0 - - 1 Johan den Dunnen
+/. 10 c.931C>T - r.(?) p.(Arg311*) Parent #1 g.46659546G>A - - - POMGNT1_000063 - PubMed: Biancheri 2006 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MDC 17030669-Pat2 PubMed: Biancheri 2006 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M - Italy - - 0 - - 2 Johan den Dunnen
+/. 10 c.931C>T - r.(?) p.(Arg311*) Parent #1 g.46659546G>A - - - POMGNT1_000063 - PubMed: Biancheri 2006, PubMed: Mercuri 2009 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MDC 17030669-Pat3, 19299310-Pat30 PubMed: Biancheri 2006, PubMed: Mercuri 2009 sister of Pat2 F - Italy - - 0 - - 1 Johan den Dunnen
-?/-? 10 c.932G>A - r.(?) p.(Arg311Gln) Unknown 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 - - - - - - - - - - - - - - - - - - -
+/. 10 c.932G>A - r.932g>a p.Arg311Gln Maternal (confirmed) g.46659545C>T - - - POMGNT1_000008 not in 500 normal chromosomes PubMed: Vervoort 2004, PubMed: Vajsar 2006, OMIM:var0008 - - Germline yes - NgoMN- 0 - DNA, RNA RT-PCR, SSCA, SEQ - - MEB 15236414-FamK6914PatII1 PubMed: Vervoort 2004, PubMed: Vajsar 2006 2-generation family, 2 affecteds (sister/brother), unaffected heterozygous carrier parents F no United States white - 0 - - 2 Johan den Dunnen
+?/. 10 c.932G>A - r.(?) p.(Arg311Gln) Parent #2 g.46659545C>T - - - POMGNT1_000008 parental DNA not available; not in 200 control chromosomes PubMed: Bouchet 2007 - - Germline - - - 0 - DNA SEQ - - LIS 17559086-Fam16 PubMed: Bouchet 2007 aborted fetus - - (France) - <00y00m00d 0 - - 1 Johan den Dunnen
+?/. 10 c.932G>A - r.(?) p.(Arg311Gln) Parent #2 g.46659545C>T - - - POMGNT1_000008 - PubMed: Willer 2012 - - Germline - - - 0 - DNA SEQ - - MEB - PubMed: Willer 2012 - - - (United States) - - 0 - - 1 Tom Winder
?/. 10 c.932G>A - r.(?) p.(Arg311Gln) Parent #1 g.46659545C>T - - - POMGNT1_000008 - PubMed: Shenoy 2010 - - Germline - - - 0 - DNA SEQ - - MEB 20215985-Pat1 PubMed: Shenoy 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - 0 - - 1 Johan den Dunnen
+/. 10 c.932G>A - r.(?) p.(Arg311Gln) Maternal (confirmed) g.46659545C>T - 1073G>A - POMGNT1_000008 - PubMed: Vervoort 2004, PubMed: Vajsar 2006 - - Germline yes - - 0 - DNA SEQ - - MEB 15236414-FamK6914PatII3 PubMed: Vervoort 2004, PubMed: Vajsar 2006 PatII3 M no United States white - 0 - - 1 Johan den Dunnen
+/. 10 c.932G>A - r.(?) p.(Arg311Gln) Both (homozygous) g.46659545C>T - - - POMGNT1_000008 - PubMed: Biancheri 2006, PubMed: Mercuri 2009 - - Germline - - - 0 - DNA SEQ - - MDC 17030669-Pat1, 19299310-Pat29 PubMed: Biancheri 2006, PubMed: Mercuri 2009 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Italy - - 0 - - 1 Johan den Dunnen
?/. 11 c.956T>C - r.(?) p.(Leu319Pro) Unknown g.46659306A>G - - - POMGNT1_000056 - - - - Germline - - - 0 - DNA SEQ - - MEB - PubMed: Willer 2012 - - - (United States) - - 0 - - 1 Tom Winder
+?/. 11 c.961T>C - r.(?) p.(Ser321Pro) Maternal (confirmed) g.46659301A>G - - - POMGNT1_000074 - - - - Germline - - - 0 - DNA PCR, SEQ - - MDC - - - F - United States - - 0 - - 1 Tom Winder
+/. 11 c.982dup - r.(?) p.(Val328Glyfs*11) Parent #2 g.46659280dup - 1077insG - POMGNT1_000017 - PubMed: Taniguchi 2003, PubMed: Manya 2003, PubMed: Matsumoto 2005 - - Germline - - - 0 - DNA SEQ - - MEB 15833426-Pat3 PubMed: Taniguchi 2003, PubMed: Manya 2003, PubMed: Matsumoto 2005 - F - Japan - >01y 0 - - 1 Johan den Dunnen
+/+? 11 c.982dup - r.(982dup) p.(Val328Glyfs*11) Parent #1 g.46659280dup g.46193608dup 1077insG - POMGNT1_000017 1 Japan MDDGA3 (MEB) patient (com-het) - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+? 11 c.1011dup - r.(?) p.(Asp338*) Parent #1 g.46659251dup g.46193579dup c.1011insT - POMGNT1_000018 1 Korean patient (com-het) with probable MDDGA3 (MEB) - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 11 c.1011dup - r.(?) p.(Asp338*) Parent #1 g.46659251dup - 1011dupT - POMGNT1_000018 - PubMed: Taniguchi 2003 - - Germline - - - 0 - DNA SEQ - - MDC - PubMed: Taniguchi 2003 - F - Korea, South (Republic) - - 0 - - 1 Johan den Dunnen
+/. 11 c.1011dup - r.(?) p.(Asp338*) Both (homozygous) g.46659251dup - 1106insT - POMGNT1_000018 - PubMed: Matsumoto 2005 - - Germline - - - 0 - DNA SEQ - - MEB 15833426-Pat2 PubMed: Matsumoto 2005 - M - Japan - >00y06m 0 - - 1 Johan den Dunnen
+/. 11 c.1011dup - r.(?) p.(Asp338*) Parent #2 g.46659251dup - 1011dupT - POMGNT1_000018 - PubMed: Matsumoto 2005 - - Germline - - - 0 - DNA SEQ - - MEB 15833426-Pat2 PubMed: Matsumoto 2005 - M - Japan - >00y06m 0 - - 1 Johan den Dunnen
+/. 11 c.1011dup - r.(?) p.(Asp338*) Parent #1 g.46659251dup - 1106insT - POMGNT1_000018 muscle extract POMGnT1 to GnT1 ratio 0.02 PubMed: Zhang 2003, PubMed: Vajsar 2006 - - Germline - - - 0 - DNA SEQ - - MEB 16427280-PatI PubMed: Zhang 2003, PubMed: Vajsar 2006 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents F - - - >02y 0 - - 2 Johan den Dunnen
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