Full data view for gene POMGNT1

Information The variants shown are described using the NM_017739.3 transcript reference sequence.

110 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

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/Somatic/De novo     

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     
+/+? i02-i09 c.-50-?_751+?del - r.? p.? Maternal (confirmed) g.(?_46660225)_(46663543_?)del g.46194553_46197871del Deletion of exons 2–8 - POMGNT1_000134 1 Italian MDDGA3(MEB) patient (com-het) PubMed: Saredi et al. 2012 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+? 03 c.25dupC - r.(25dupc) p.(Leu9Profs*20) Unknown g.46663469dup g.46197797dupG c.25_26insC: premTerm28 - POMGNT1_000131 1 German MDDGA3(MEB) patient (com-het) PubMed: Hehr et al. 2007 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
./. - c.38T>C - r.(?) p.(Phe13Ser) Unknown g.46663456A>G - POMGNT1:c.38T>C (F13S) - POMGNT1_000183 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.120+13C>T - 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 - 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 - - - - - - - - - - - - - - - - - - -
-/. 2i c.123-5dupT - r.(=) p.(=) Unknown g.134381496dupT - - - POMT1_000052 - - - - Germline - 0.14 - 0 - DNA SEQ - - MDC ? PubMed: Oliveira 2008 - F - Portugal - - 0 - - 1 Rosário dos Santos
./. - c.187C>T - r.(?) p.(Arg63*) Unknown g.46662690G>A - POMGNT1:c.187C>T (R63*) - POMGNT1_000181 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.187C>T - r.(?) p.(Arg63*) Unknown g.46662690G>A - POMGNT1:c.187C>T (R63*) - POMGNT1_000181 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.236-16C>G - r.(=) p.(=) Unknown g.46662537G>C - POMGNT1:c.236-16C>G - POMGNT1_000180 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.236-13T>C - r.(=) p.(=) Unknown g.46662534A>G - POMGNT1:c.236-13T>C - POMGNT1_000179 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.275G>T - r.(?) p.(Gly92Val) Unknown 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 - - - - - - - - - - - - - - - - - - -
-/. 4i c.281-82C>T - r.(=) p.(=) Parent #1 g.134382673C>T - - - POMT1_000053 - - - - Germline - - -HhI 0 - DNA SEQ - - MDC ? PubMed: Oliveira 2008 - F - Portugal - - 0 - - 1 Rosário dos Santos
+/+? 05 c.351delC - r.(351delc) p.(Thr118Argfs*26) Unknown g.46662406delG g.46196734delG c.350delC: Thr117fsX26 (exon 4) - POMGNT1_000132 2 Italian MDDGA3(MEB) patients (both com-het) and 1 MDDGA3(MEB) patient (com-het) with unknown ethnicity PubMed: Mercuri et al. 2009, PubMed: Saredi et al. 2012 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
-/. 5i c.428-21T>C - r.(=) p.(=) Parent #1 g.134384277T>C - - - POMT1_000054 - - - - Germline - - -NlaIII 0 - DNA SEQ - - MDC ? PubMed: Oliveira 2008 - F - Portugal - - 0 - - 1 Rosário dos Santos
+/+? 07 c.447delT - r.(447delu) p.(Phe149Leufs*19) Unknown g.46661570delA g.46195898delA 541delT: Phe149 frameshift 167Stop - POMGNT1_000133 1 Japan MDDGA3(MEB) patient (com-het) PubMed: Taniguchi et al. 2003 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? 07 c.526A>C - r.(526a>c) p.(Thr176Ala) Unknown g.46661491T>G g.46195819T>G p.Thr176Pro - POMGNT1_000135 1 MDDGA3(MEB) patient (hom) with unknown ethnicity PubMed: Godfrey et al. 2007 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? 08 c.575T>C - r.(575u>c) p.(Leu192Pro) Unknown g.46660593A>G g.46194921A>G - - POMGNT1_000150 1 Chinese MDDGA3(MEB) patient (com-het) PubMed: Jiao et al. 2013 - - SUMMARY record yes 0/50 CON - 0 - - - - - - - - - - - - - - - - - - -
+/+? 08 c.593delG - r.(593delg) p.(Ser198Thrfs*43) Unknown g.46660575delC g.46194903delC c.593delG: premTerm240 - POMGNT1_000136 1 American and 1 German MDDGA3(MEB) patient (both com-het) PubMed: Hehr et al. 2007 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? 08 c.594C>G - r.(594c>g) 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 yes - - - - - - - - - - - - - - - - - - - - - -
+/+? 08 c.636C>T - r.535_652del p.Asp179Valfs*23 Unknown g.46660532G>A g.46194860G>A - - POMGNT1_000138 1 MDDGA3(MEB) patient (hom) with unknown ethnicity PubMed: Oliveira et al. 2008 - - SUMMARY record yes 0/110 CON - - - - - - - - - - - - - - - - - - - - -
+/+? 08 c.643C>T - r.535_652del p.Asp179Valfs*23 Maternal (confirmed) g.46660525G>A g.46194853G>A in-frame skipping of exon 7 - POMGNT1_000139 1 Italian MDDGA3(MEB) patient (com-het) and 1 MDDGA3(MEB) patient (hom) with unknown ethnicity PubMed: Mercuri et al. 2009, PubMed: Saredi et al. 2012 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? i08 c.652+1G>A - r.spl? p.? Unknown g.46660515C>T g.46194843C>T - - POMGNT1_000140 1 MDDGA3(MEB) patient (com-het) with unknown ethnicity PubMed: Godfrey et al. 2007 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
./. - c.653-9T>C - r.(=) p.(=) Unknown g.46660332A>G - POMGNT1:c.653-9T>C - POMGNT1_000177 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+? 09 c.667G>A - r.(667g>a) p.(Glu223Lys) Unknown g.46660309C>T g.46194637C>T 761G>A: Glu223Lys Missense - POMGNT1_000141 1 Japan and 1 Belgian MDDGA3(MEB) patient (both com-het) PubMed: Taniguchi et al. 2003 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
./. - c.681A>G - r.(=) p.(=) Unknown g.46660295T>C - POMGNT1:c.681A>G (=) - POMGNT1_000176 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.681A>G - r.(=) p.(=) Unknown g.46660295T>C - POMGNT1:c.681A>G (=) - POMGNT1_000176 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.681A>G - r.(=) p.(=) Unknown g.46660295T>C - POMGNT1:c.681A>G (=) - POMGNT1_000176 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? - c.703G>C - r.(?) p.(Gly235Arg) Both (homozygous) g.46660273C>G g.46194601C>G - - POMGNT1_000154 1 Turkish patient (hom) with MDDGA3(MEB) PubMed: Yiş al. 2014 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
-/. 8 c.751C>T - r.(?) p.(Arg251Trp) Unknown g.134385435C>T - - - POMT1_000032 - - - - Germline - - - 0 - DNA SEQ - - MDC ? PubMed: Oliveira 2008 - F - Portugal - - 0 - - 1 Rosário dos Santos
-/. 8i c.766-48A>G - r.(=) p.(=) Parent #1 g.134385599A>G - - - POMT1_000055 - - - - Germline - - -RsaI 0 - DNA SEQ - - MDC ? PubMed: Oliveira 2008 - F - Portugal - - 0 - - 1 Rosário dos Santos
+?/+? 10 c.794G>A - r.(794g>a) p.(Arg265His) Unknown g.46660031C>T g.46194359C>T 935G>A:R265H;1073G>A:R311Q - POMGNT1_000102 1 American MDDGA3(MEB) family (com-het) and 1 MDDGA3(MEB) patient with unknown ethnicity (com-het); Variants c.794G>A (p.Arg265His) and c.932G>A (p.Arg311Gln) segregate together and it is unclear which one is (or if both are) causative PubMed: Vervoort et al. 2004, PubMed: Shenoy et al. 2010 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+? 10 c.806G>A - r.(806g>a) p.(Cys269Tyr) Unknown g.46660019C>T g.46194347C>T 900G>A: Cys269Tyr Missense - POMGNT1_000142 1 Japan MDDGA3(MEB) patient (com-het) PubMed: Taniguchi et al. 2003 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+? i10 c.879+5G>A - r.spl? p.? Unknown g.46659941C>T g.46194269C>T - - POMGNT1_000143 1 Swedish MDDGA3(MEB) patient (com-het) PubMed: Diesen et al. 2004 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+? i10 c.879+5G>T - r.[879_880ins879+1_879+25; c.879+5G>T] p.Pro293_Leu294ins7*8 Unknown g.46659941C>A g.46194269C>A - - POMGNT1_000144 1 Finnish MDDGA3(MEB) patient (com-het) PubMed: Diesen et al. 2004 - - SUMMARY record yes 0/75 FIN CON - - - - - - - - - - - - - - - - - - - - -
./. - c.879+5G>T - r.spl? p.? Unknown g.46659941C>A - POMGNT1:c.879+5G>T - POMGNT1_000044 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.880-1G>C - 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 - - - - - - - - - - - - - - - - - - -
-/. 9i c.922-65G>A - r.(=) p.(=) Unknown g.134386659G>A - - - POMT1_000056 - - - - Germline - 0.07 - 0 - DNA SEQ - - MDC ? PubMed: Oliveira 2008 - F - Portugal - - 0 - - 1 Rosário dos Santos
-/. 9i c.922-49T>G - r.(=) p.(=) Parent #1 g.134386675T>G - - - POMT1_000057 - - - - Germline - - - 0 - DNA SEQ - - MDC ? PubMed: Oliveira 2008 - F - Portugal - - 0 - - 1 Rosário dos Santos
+/+? 11 c.931C>T - r.(931c>u) p.(Arg311*) Unknown g.46659546G>A g.46193874G>A - - POMGNT1_000145 2 Italian MDDGA3(MEB) patients (both com-het) PubMed: Biancheri et al. 2001, PubMed: Saredi et al. 2012 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? 11 c.932G>A - r.(932g>a) p.(Arg311Gln) Unknown g.46659545C>T g.46193873C>T 1073G>A:R311Q - POMGNT1_000147 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 (p.Arg265His) and c.932G>A (p.Arg311Gln) segregate together and it is unclear which one is (or if both are) causative PubMed: Vervoort et al. 2004, PubMed: Bouchet al. 2007, PubMed: Shenoy et al. 2010 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
./. - c.932G>A - r.(?) p.(Arg311Gln) Unknown g.46659545C>T - POMGNT1:c.932G>A (R311Q) - POMGNT1_000047 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.950+3A>G - r.spl? p.? Unknown g.46659524T>C - POMGNT1:c.950+3A>G - POMGNT1_000174 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+? 12 c.982dupG - r.(982dupg) p.(Val328Glyfs*11) Unknown g.46659280dup g.46193608dupC 1077insG: Val328 frameshift 338Stop - POMGNT1_000146 1 Japan MDDGA3(MEB) patient (com-het) PubMed: Taniguchi et al. 2003 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? 12 c.1011dupT - r.(1011dupu) p.(Asp338*) Unknown g.46659251dupA g.46193579dupA Chr1:46659252 (c.1011) insT p.D338X - POMGNT1_000151 1 Korean patient (com-het) with probable MDDGA3(MEB) PubMed: Lim et al. 2013 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1027-44A>G - r.(=) p.(=) Unknown g.46659104T>C - POMGNT1:c.1027-44A>G - POMGNT1_000173 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 10i c.1052+49G>A - r.(=) p.(=) Parent #1 g.134386903G>A - - - POMT1_000058 - - - - Germline - - - 0 - DNA SEQ - - MDC ? PubMed: Oliveira 2008 - F - Portugal - - 0 - - 1 Rosário dos Santos
+?/+? 13 c.1100G>A - r.(1100g>a) p.(Arg367His) Unknown g.46658987C>T g.46193315C>T - - POMGNT1_000103 1 MDDGA3(MEB) patient (com-het) with unknown ethnicity PubMed: Godfrey et al. 2007 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
./. - c.1110+20G>C - r.(=) p.(=) Unknown g.46658957C>G - POMGNT1:c.1110+20G>C - POMGNT1_000172 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1111-23C>T - r.(=) p.(=) Unknown g.46658910G>A - POMGNT1:c.1111-23C>T - POMGNT1_000171 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1111-9C>T - r.(=) p.(=) Unknown g.46658896G>A - POMGNT1:c.1111-9C>T - POMGNT1_000170 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 11i c.1148+16G>A - r.(=) p.(=) Unknown g.134387539G>A - - - POMT1_000006 - - - - Germline - - - 0 - DNA SEQ - - MDC ? PubMed: Oliveira 2008 - F - Portugal - - 0 - - 1 Rosário dos Santos
-/. 11i c.1149-64C>T - r.(=) p.(=) Unknown g.134388562C>T - - - POMT1_000060 - - - - Germline - 0.14 - 0 - DNA SEQ - - MDC ? PubMed: Oliveira 2008 - F - Portugal - - 0 - - 1 Rosário dos Santos
./. - c.1212-66T>C - r.(=) p.(=) Unknown g.46658328A>G - POMGNT1:c.1212-66T>C - POMGNT1_000169 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1257G>A - r.(=) p.(=) Unknown g.46658217C>T - POMGNT1:c.1257G>A (=) - POMGNT1_000168 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1257G>A - r.(=) p.(=) Unknown g.46658217C>T - POMGNT1:c.1257G>A (=) - POMGNT1_000168 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 26 c.1274G>C - r.(1274g>c) p.(Trp425Ser) Unknown g.46658200C>G g.46192528C>G - - POMGNT1_000104 1 Spanish MDDGA3(MEB) patient (com-het) and 1 Korean patient (hom) with propable MDDGA3(MEB) PubMed: Diesen et al. 2004, PubMed: Lim et al. 2013 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/+? i16 c.1285-2A>G - r.[1284_1285ins1284+1_1284-1; 1285-2a>g, 1285_1413del, =] p.[Gln428_Gly429ins27, Gly429_Lys471del, =] Unknown g.46658110T>C g.46192438T>C - - POMGNT1_000105 2 Italian MDDGA3(MEB) patients (1 com-het and 1 het) and 1 MDDGA3(MEB) patient (hom) with unknown ethnicity; p.Gln428_Gly429ins27: p.Gln428_Gly429insVGWNDQGLAGEFMRPQLIPPTMAPCPR PubMed: Biancheri et al. 2001, PubMed: Diesen et al. 2004, PubMed: Mercuri et al. 2009 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? 17 c.1319T>G - r.(1319u>g) p.(Leu440Arg) Maternal (confirmed) g.46658074A>C g.46192402A>C - - POMGNT1_000106 1 Chinese MDDGA3 (MEB) family (com-het) PubMed: Jiao et al. 2011, PubMed: Jiao et al. 2013 - - SUMMARY record yes 0/50 CON - 0 - - - - - - - - - - - - - - - - - - -
+/+? 17 c.1324C>T - r.(1324c>u) p.(Arg442Cys) Paternal (confirmed) g.46658069G>A g.46192397G>A 1465C>T: R442C - POMGNT1_000107 1 American MDDGA3(MEB) family (com-het), 1 German MDDGA3(MEB) patient (hom) and 2 German siblings (hom) with MDDGA3(MEB) PubMed: Vervoort et al. 2004, PubMed: Hehr et al. 2007 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
./. - c.1324C>T - r.(?) p.(Arg442Cys) Unknown g.46658069G>A - POMGNT1:c.1324C>T (R442C) - POMGNT1_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+? 17 c.1325G>A - r.(1325g>a) p.(Arg442His) Unknown g.46658068C>T g.46192396C>T c.1325G>A: p.Arg442His - POMGNT1_000108 1 Turkish MDDGA3(MEB) patient (hom) PubMed: Hehr et al. 2007 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? 17 c.1325G>T - r.(1325g>u) p.(Arg442Leu) Unknown g.46658068C>A g.46192396C>A - - POMGNT1_000148 1 Chinese MDDGA3 patient (com-het) PubMed: Jiao et al. 2013 - - SUMMARY record yes 0/50 CON - 0 - - - - - - - - - - - - - - - - - - -
+/+? 17 c.1342G>C - r.(1342g>c) p.(Gly448Arg) Paternal (confirmed) g.46658051C>G g.46192379C>G - - POMGNT1_000109 1 Algerian MDDGA3(MEB) patient (com-het) PubMed: Vuillaumier-Barrot et al. 2011 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+? 17 c.1350_1354delCTGGG - r.(1350_1354delcuggg) p.(Trp451Alafs*11) Unknown g.46658039_46658043delCCCAG g.46192367_46192371delCCCAG c.1350_1354delCTGGG: premTerm461 - POMGNT1_000110 2 Turkish MDDGA3(MEB) patients (hom) PubMed: Hehr et al. 2007, PubMed: Yiş et al. 2014 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 17 c.1385T>A - r.(1385a>u) p.(Leu462His) Unknown g.46658008A>T g.46192336A>T Chr1:46658008 (c.1385) T > A p.L462H - POMGNT1_000152 1 Korean patient with propable MDDGA3(MEB) PubMed: Lim et al. 2013 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1407G>A - r.(=) p.(=) Unknown g.46657986C>T - POMGNT1:c.1407G>A (P469=) - POMGNT1_000167 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1413+1G>A - r.spl? p.? Unknown g.46657979C>T - POMGNT1:c.1413+1G>A - POMGNT1_000165 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1413+1G>T - r.spl? p.? Unknown g.46657979C>A - POMGNT1:c.1413+1G>T - POMGNT1_000166 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1425G>A - r.(?) p.(Trp475*) Unknown g.46657884C>T - POMGNT1:c.1425G>A (W475*) - POMGNT1_000164 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 14i c.1432-61A>G - r.(=) p.(=) Parent #1 g.134394163A>G - - - POMT1_000061 - - - - Germline - - - 0 - DNA SEQ - - MDC ? PubMed: Oliveira 2008 - F - Portugal - - 0 - - 1 Rosário dos Santos
./. - c.1456C>G - r.(?) p.(Arg486Gly) Unknown g.46657853G>C - POMGNT1:c.1456C>G (R486G) - POMGNT1_000163 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+? 18 c.1469G>A - r.(1469g>a) p.(Cys490Tyr) Unknown g.46657840C>T g.46192168C>T - - POMGNT1_000111 3 American (2 com-het, 1 het), 2 Israeli (hom) 2 French (hom) and 1 Italian (com-het) MEB patient, and 2 MEB patients (com-het) with unknown ethnicity PubMed: Biancheri et al. 2001, PubMed: Diesen et al. 2004, PubMed: Godfrey et al. 2007, PubMed: Bouchet al. 2007, PubMed: Raducu et al. 2014 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/+? 18 c.1478C>G - r.(1478c>g) p.(Pro493Arg) Unknown g.46657831G>C g.46192159G>C 1572C>G: Pro493Arg - POMGNT1_000112 1 French MDDGA3(MEB) patient (com-het) PubMed: Yoshida et al. 2001 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
./. - c.1483G>C - r.(?) p.(Val495Leu) Unknown g.46657826C>G - POMGNT1:c.1483G>C (V495L) - POMGNT1_000162 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 18 c.1513G>A - r.(1513g>a) p.(Gly505Ser) Unknown g.46657796C>T g.46192124C>T - - POMGNT1_000149 1 Chinese MDDGA3 patient (com-het) PubMed: Jiao et al. 2013 - - SUMMARY record yes 0/50 CON - 0 - - - - - - - - - - - - - - - - - - -
+/+? i18 c.1539+1G>A - r.[1414_1539del, 1539_?ins1539+1_?; 1539+1g>a] p.[Leu472_His513del, GLu514_Thr660delMSGRQGAGHSVAins] Unknown g.46657769C>T g.46192097C>T IVS17+1G>A: Glu514read-through 526Stop/Leu472-His513del - POMGNT1_000115 Finnish Major/Founder MDDGA3(MEB) mutation: 19 Finnish MDDGA3(MEB) patients (18 hom, 1 com-het). Found in other populations: American, Turkish and Belgian MDDGA3(MEB) patients. Also one American/Japan (com-het) patient with mild WWS; variant causes splice defect, either exon 18 skipping or intron 18 inclusion PubMed: Yoshida et al. 2001, PubMed: Taniguchi et al. 2003, PubMed: Diesen et al. 2004, PubMed: Hehr et al. 2007, PubMed: Godfrey et al. 2007, PubMed: Bouchet al. 2007, PubMed: Teber et al. 2008 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
./. - c.1539+1G>A - r.spl? p.? Unknown g.46657769C>T - POMGNT1:c.1539+1G>A - POMGNT1_000015 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1539+1G>A - r.spl? p.? Unknown g.46657769C>T - POMGNT1:c.1539+1G>A - POMGNT1_000015 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+? i18 c.1539+1G>T - r.[1414_1539del, 1539_?ins1539+1_?; 1539+1g>u] p.[Leu472_His513del, GLu514_Thr660delLSGRQGAGHSVAins] Unknown g.46657769C>A g.46192097C>A IVS17+1G>T: Leu472-His513del - POMGNT1_000116 2 Turkish MDDGA3(MEB) patients PubMed: Yoshida et al. 2001 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ i18-end c.1539+184_*2354del - r.? p.? Unknown g.46652588_46657586del g.46186916_46191914del c.1539+184_1983+2354del4972; deletion of the last six exons - POMGNT1_000113 1 Tunisian (hom) MDDGA3(MEB) patient PubMed: Vuillaumier-Barrot et al. 2011 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ i18-end c.1539+261_*2405del - r.? p.? Unknown g.46652537_46657509del g.46186865_46191837del c.1539+261_1983+2405del4972; deletion of the last six exons - POMGNT1_000114 1 Algerian (com-het) MDDGA3(MEB) patient PubMed: Vuillaumier-Barrot et al. 2011 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+? i18 c.1540-2A>G - r.spl? p.? Unknown g.46656458T>C g.46190786T>C c.1540-2A>G - POMGNT1_000117 1 Turkish MDDGA3(MEB) patient (hom) PubMed: Hehr et al. 2007 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? 18 c.1545delC - r.(?) p.(Tyr516Thrfs*21) Unknown g.46656451delG g.46190779delG - - POMGNT1_000153 1 MDDGA3(MEB) patient (com-het) PubMed: Raducu et al. 2014 - - SUMMARY record ? - - 0 - - - - - - - - - - - - - - - - - - -
+/+? 20 c.1649G>A - r.(1649g>a) p.(Ser550Asn) Unknown g.46656145C>T g.46190473C>T 1743G>A: Ser550Asn - POMGNT1_000118 2 Turkish MDDGA3(MEB) patients PubMed: Yoshida et al. 2001 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
./. - c.1649G>A - r.(?) p.(Ser550Asn) Unknown g.46656145C>T - POMGNT1:c.1649G>A (S550N) - POMGNT1_000018 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1666G>A - r.(?) p.(Asp556Asn) Unknown g.46655645C>T g.46189973C>T - - POMGNT1_000101 - - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.1666G>A - r.(?) p.(Asp556Asn) Unknown g.46655645C>T g.46189973C>T - - POMGNT1_000101 - - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
./. - c.1666G>A - r.(?) p.(Asp556Asn) Unknown g.46655645C>T - POMGNT1:NM_001243766.1:c.1666G>A, NM_005727.3:c.*4440C>T, … - POMGNT1_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1719del - r.(?) p.(His573Glnfs*50) Unknown g.46655592del - POMGNT1:c.1719delC (H573Qfs*51) - POMGNT1_000161 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+? 21 c.1719delC - r.(1719delc) p.(His573Glnfs*61) Unknown g.46655592delG g.46189920delG 1813delC: His573 fs - POMGNT1_000119 1 Turkish MDDGA3(MEB) patient (hom) PubMed: Yoshida et al. 2001 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+? 21 c.1738C>T - r.(1738c>u) p.(Arg580*) Unknown g.46655573G>A g.46189901G>A c.1738C>T: p.Arg580X - POMGNT1_000120 1 MDDGA3(MEB) patient (com-het) PubMed: Hehr et al. 2007 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
-/. 17i c.1764+48C>G - r.(=) p.(=) Parent #1 g.134395628C>G - - - POMT1_000008 - - - - Germline - - - 0 - DNA SEQ - - MDC ? PubMed: Oliveira 2008 - F - Portugal - - 0 - - 1 Rosário dos Santos
-/. 17i c.1764+107C>A - r.(=) p.(=) Parent #1 g.134395687C>A - - - POMT1_000009 - - - - Germline - - - 0 - DNA SEQ - - MDC ? PubMed: Oliveira 2008 - F - Portugal - - 0 - - 1 Rosário dos Santos
+/+? 21 c.1769G>A - r.(1769g>a) p.(Trp590*) Unknown g.46655542C>T g.46189870C>T - - POMGNT1_000121 2 American MDDGA3(MEB) patients (com-het) PubMed: Diesen et al. 2004 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? - c.1785+1G>A - r.spl? p.? Both (homozygous) g.46655525C>T g.46189853C>T - - POMGNT1_000155 1 Turkish MDDGA3(MEB) patient PubMed: Yiş al. 2014 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? i21 c.1785+2T>G - r.spl? p.? Unknown g.46655524A>C g.46189852A>C - - POMGNT1_000122 1 MDDGA3(MEB) patient (hom) with unknown ethnicity PubMed: Godfrey et al. 2007 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+? 22b c.1814G>A - r.(1814g>a) p.(Arg605His) Unknown g.46655211C>T g.46189539C>T c.1814G>A: p.Arg605His - POMGNT1_000123 8 Turkish patients (hom) with MDDGA3(MEB) and 2 MDDGA3(MEB) patients (com-het) with unknown ethnicity PubMed: Hehr et al. 2007, PubMed: Shenoy et al. 2010, PubMed: Yiş et al. 2014 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 22b c.1814G>C - r.(1814g>c) p.(Arg605Pro) Unknown g.46655211C>G g.46189539C>G - - POMGNT1_000124 2 Turkish (hom) and 1 Chinese (com-het) MDDGA3(MEB) patient PubMed: Demir et al. 2009, PubMed: Jiao et al. 2013, PubMed: Yiş et al. 2014 - - SUMMARY record yes 0/50 CON - 0 - - - - - - - - - - - - - - - - - - -
+/+? 22b c.1864delC - r.(1864delc) p.(Leu622Trpfs*12) Both (homozygous) g.46655161delG g.46189489delG c.1863delC: Leu622X (exon 21) - POMGNT1_000125 2 Italian MDDGA3(MEB) patients (both hom) PubMed: Saredi et al. 2012 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
./. - c.1867A>G - r.(?) p.(Met623Val) Unknown g.46655158T>C - POMGNT1:c.1867A>G (M623V) - POMGNT1_000160 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
Legend   « First ‹ Prev     1 2     Next › Last »