Full data view for gene POMT1

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_007171.3 transcript reference sequence.

646 entries on 7 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.-32G>A r.spl p.? Parent #1 - pathogenic (recessive) g.134378459G>A g.131503072G>A c.-32A>G - POMT1_000250 enzyme activity assessed in HeLa cells PubMed: Song 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - MDDG Pat79 PubMed: Song 2021 - M - China - - - - - 1 Johan den Dunnen
+?/. 1i c.-30-2A>G r.spl p.? Parent #1 - likely pathogenic g.134379574A>G g.131504187A>G c.-32A>G - POMT1_000142 - - - - Germline - - - - - DNA SEQ-NG-I - - MDC - - - M no - - - - - - 1 Yanghaipo
-/. - c.-6T>G r.(?) p.(=) Unknown - benign g.134379600T>G g.131504213T>G POMT1(NM_007171.3):c.-6T>G - POMT1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.-6T>G r.(?) p.(=) Parent #1 - benign g.134379600T>G g.131504213T>G - - POMT1_000045 - PubMed: Beltran-Valero de Bernabe 2002 - - Germline - - - - - DNA SEQ, SSCA - - WWS - PubMed: Beltran-Valero de Bernabe 2002 - - yes Italy Gypsy - - - - 1 Johan den Dunnen
-/. 2 c.-6T>G r.(?) p.(=) Unknown - benign g.134379600T>G g.131504213T>G - - POMT1_000045 - from website {DBsub-Emory} - - Unknown - - - - - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - - - - 1 Madhuri Hegde
-/. 2 c.122+417GT(15_23) r.(?) p.(=) Parent #1 - benign g.? - - - POMT1_000046 {GB181458}, marker D9S64 PubMed: Beltran-Valero de Bernabe 2002, PubMed: van Reeuwijk 2006, PubMed: Currier 2005 - - Germline - - - - - DNA SEQ - - MDC - PubMed: Beltran-Valero de Bernabe 2002, PubMed: van Reeuwijk 2006, PubMed: Currier 2005 - - - - - - - - - 1 Johan den Dunnen
?/. 1 c.? r.(?) p.? Parent #1 - VUS g.? - 232G>C (E78Q) - PTCH1_000000 no second variant in POMT1 PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+?/. 2 c.7G>T r.(?) p.(Gly3*) Unknown - likely pathogenic g.134379612G>T g.131504225G>T - - POMT1_000091 - - - - Germline - - - - - DNA SEQ - - WWS - - - - - (Israel) Libian;Iraqi - - - - 1 Tom Winder
+?/. - c.35C>G r.(?) p.(Thr12Arg) Unknown - likely pathogenic g.134379640C>G - POMT1(NM_001353193.2):c.35C>G (p.T12R) - UCK1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.47A>G r.(?) p.(Asn16Ser) Unknown - likely benign g.134379652A>G g.131504265A>G POMT1(NM_001077365.1):c.47A>G (p.(Asn16Ser)) - UCK1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.78G>A r.(?) p.(Gly26=) Unknown - likely benign g.134379683G>A g.131504296G>A POMT1(NM_001077365.1):c.78G>A (p.(Gly26=)) - POMT1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.78G>A r.(?) p.(=) Unknown - VUS g.134379683G>A g.131504296G>A - - POMT1_000096 - - - - Germline - - - - - DNA SEQ - - MDC - - - - - - - - - - - 1 Tom Winder
?/. 2 c.78G>A r.(?) p.(=) Unknown - VUS g.134379683G>A g.131504296G>A - - POMT1_000096 - from website {DBsub-Emory} - - Unknown - - - - - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - - - - 1 Madhuri Hegde
+?/. 2 c.81dup r.(?) p.(Leu28Thrfs*16) Unknown - likely pathogenic g.134379686dup g.131504299dup - - POMT1_000080 - - - - Germline - - - - - DNA SEQ - - MD - - carrier; previous child with clinical diagnosis of WWS F - (United States) - - - - - 1 Tom Winder
+?/. 2 c.81dup r.(?) p.(Leu28Thrfs*16) Parent #1 - likely pathogenic g.134379686dup g.131504299dup - - POMT1_000080 - - - - Germline - - - - - DNA PCR, SEQ - - WWS - - - F - United States - - - - - 1 Tom Winder
+/. 2 c.85A>C r.(?) p.(Ser29Arg) Parent #2 - pathogenic g.134379690A>C g.131504303A>C - - POMT1_000048 - PubMed: Willer 2012 - - Germline - - - - - DNA SEQ - - MDC - PubMed: Willer 2012 - F - United States - - - - - 1 Tom Winder
+/. - c.110C>T r.(?) p.(Pro37Leu) Parent #1 - pathogenic (recessive) g.134379715C>T g.131504328C>T - - POMT1_000251 - PubMed: Song 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - MDDG Pat83 PubMed: Song 2021 - F - China - - - - - 1 Johan den Dunnen
+/. 2 c.122+5G>A r.[=, -30_122del] p.[=, 0?] Parent #2 - pathogenic g.134379732G>A g.131504345G>A - - POMT1_000095 - PubMed: Bouchet 2007 - - Germline - - - - - RNA, DNA SEQ - - LIS - PubMed: Bouchet 2007 aborted fetus - - (France) - <0y - - - 1 Johan den Dunnen
-?/. - c.123-6T>C r.(=) p.(=) Unknown - likely benign g.134381495T>C g.131506108T>C POMT1(NM_001136113.2):c.123-6T>C - POMT1_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.123-6_123-5dup r.spl? p.? Unknown - benign g.134381495_134381496dup g.131506108_131506109dup POMT1(NM_001077365.1):c.123-6_123-5dup (p.?), POMT1(NM_001136113.2):c.123-6_123-5dupTT - UCK1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.123-6_123-5dup r.spl? p.? Unknown - likely benign g.134381495_134381496dup g.131506108_131506109dup POMT1(NM_001077365.1):c.123-6_123-5dup (p.?), POMT1(NM_001136113.2):c.123-6_123-5dupTT - UCK1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.123-5dup r.spl? p.? Unknown - benign g.134381496dup g.131506109dup POMT1(NM_001077365.1):c.123-14_123-13insT (p.(=)), POMT1(NM_001136113.2):c.123-5dupT, POMT1(NM_007171.3):c.123-5dupT - POMT1_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.123-5dup r.spl? p.? Unknown - benign g.134381496dup g.131506109dup POMT1(NM_001077365.1):c.123-14_123-13insT (p.(=)), POMT1(NM_001136113.2):c.123-5dupT, POMT1(NM_007171.3):c.123-5dupT - POMT1_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.123-5dup r.spl? p.? Unknown - VUS g.134381496dup g.131506109dup POMT1(NM_001077365.1):c.123-14_123-13insT (p.(=)), POMT1(NM_001136113.2):c.123-5dupT, POMT1(NM_007171.3):c.123-5dupT - POMT1_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.123-5dup r.spl? p.(=) Unknown - benign g.134381496dup g.131506109dup 122-5dupT - POMT1_000052 other pathogenic change in several patients PubMed: Godfrey 2007 - rs10122068 Germline - - - - - DNA SEQ - - MD - PubMed: Godfrey 2007 - - - - - - - - - 1 Johan den Dunnen
?/. 2i c.123-5dup r.spl? p.(=) Unknown - VUS g.134381496dup g.131506109dup - - POMT1_000052 - from website {DBsub-Emory} - rs10122068 Unknown - - - - - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - - - - 1 Madhuri Hegde
-/. - c.123-5dup r.spl? p.? Unknown - benign g.134381496dup g.131506109dup POMT1(NM_001077365.1):c.123-14_123-13insT (p.(=)), POMT1(NM_001136113.2):c.123-5dupT, POMT1(NM_007171.3):c.123-5dupT - POMT1_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.123-4dup r.spl? p.? Unknown - likely benign g.134381497dup g.131506110dup POMT1(NM_001136113.2):c.123-4dupC - UCK1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.129C>T r.(?) p.(=) Unknown - benign g.134381507C>T g.131506120C>T - - POMT1_000065 other pathogenic change in one patient PubMed: Godfrey 2007 - - Germline - - - - - DNA SEQ - - MD - PubMed: Godfrey 2007 - - - - - - - - - 1 Johan den Dunnen
?/. 3 c.130G>A r.(?) p.(Glu44Lys) Parent #1 - VUS g.134381508G>A g.131506121G>A - - POMT1_000127 - - - - Germline - - - - - DNA SEQ - - MDC - - - M - China - - - - - 1 Yanghaipo
+?/. 3 c.130G>A r.(?) p.(Glu44Lys) Maternal (confirmed) - likely pathogenic g.134381508G>A g.131506121G>A - - POMT1_000127 - - - - Germline - - - - - DNA PCR, SEQ - - WWS - - - - - United States white - - - - 1 Tom Winder
+/. - c.130G>A r.(?) p.(Glu44Lys) Parent #1 - pathogenic (recessive) g.134381508G>A g.131506121G>A - - POMT1_000127 enzyme activity assessed in HeLa cells PubMed: Song 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - MDDG Pat85 PubMed: Song 2021 - M - China - - - - - 1 Johan den Dunnen
+/. 3 c.132A>C r.(?) p.(Glu44Asp) Parent #1 - pathogenic g.134381510A>C g.131506123A>C - - POMT1_000139 - PubMed: O'Grady 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - - MDC Pat102 PubMed: O'Grady 2016 2-generation family, unaffected heterozygous carrier parents F - Australia - >08y - - - 1 Sandra Cooper
+?/. 3 c.132A>C r.(?) p.(Glu44Asp) Parent #1 - likely pathogenic g.134381510A>C g.131506123A>C - - POMT1_000139 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
-?/. - c.141T>C r.(?) p.(Tyr47=) Unknown - likely benign g.134381519T>C g.131506132T>C POMT1(NM_001136113.1):c.141T>C (p.Y47=) - POMT1_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.[145_146ins290; 145_160dup] r.123_229del p.Phe42Leufs*20 Parent #1 - pathogenic g.? - 145insAlu - POMT1_000102 antisense insertion AluYa5 repeat, probable founder mutation (incl. D9S64 113 allele) PubMed: Bouchet 2007, PubMed: Bouchet 2007 - - Germline - - - - - DNA SEQ, PCRq - - WWS - PubMed: Bouchet 2007, PubMed: Bouchet 2007 aborted fetus (21w) - yes France - <0y - - - 1 Johan den Dunnen
+/. 3 c.[145_146ins290; 145_160dup] r.123_229del p.Phe42Leufs*20 Parent #2 - pathogenic g.? - 145insAlu - POMT1_000102 antisense insertion AluYa5 repeat, probable founder mutation (incl. D9S64 113 allele) PubMed: Bouchet 2007, PubMed: Bouchet 2007 - - Germline - - - - - DNA SEQ, PCRq - - WWS - PubMed: Bouchet 2007, PubMed: Bouchet 2007 aborted fetus (21w) - yes France - <0y - - - 1 Johan den Dunnen
+/. 3 c.[145_146ins290; 145_160dup] r.123_229del p.Phe42Leufs*20 Parent #1 - pathogenic g.? - 145insAlu - POMT1_000102 antisense insertion AluYa5 repeat, probable founder mutation (incl. D9S64 113 allele) PubMed: Bouchet 2007, PubMed: Bouchet 2007 - - Germline - - - - - DNA SEQ - - WWS - PubMed: Bouchet 2007, PubMed: Bouchet 2007 aborted fetus (20w), related to F5f2, F5f3 - no France - <0y - - - 1 Johan den Dunnen
+/. 3 c.[145_146ins290; 145_160dup] r.123_229del p.Phe42Leufs*20 Parent #1 - pathogenic g.? - 145insAlu - POMT1_000102 antisense insertion AluYa5 repeat, probable founder mutation (incl. D9S64 113 allele) PubMed: Bouchet 2007, PubMed: Bouchet 2007 - - Germline - - - - - DNA SEQ - - WWS - PubMed: Bouchet 2007, PubMed: Bouchet 2007 aborted fetus (20w), related to F5f1, F5f3 - no France - <0y - - - 1 Johan den Dunnen
+/. 3 c.[145_146ins290; 145_160dup] r.123_229del p.Phe42Leufs*20 Parent #1 - pathogenic g.? - 145insAlu - POMT1_000102 antisense insertion AluYa5 repeat, probable founder mutation (incl. D9S64 113 allele) PubMed: Bouchet 2007, PubMed: Bouchet 2007 - - Germline - - - - - DNA SEQ - - WWS - PubMed: Bouchet 2007, PubMed: Bouchet 2007 aborted fetus (20w), related to F5f1, F5f2 - no France - <0y - - - 1 Johan den Dunnen
+/. 3 c.[145_146ins290; 145_160dup] r.123_229del p.Phe42Leufs*20 Parent #1 - pathogenic g.? - 145insAlu - POMT1_000102 antisense insertion AluYa5 repeat, probable founder mutation (incl. D9S64 113 allele) PubMed: Bouchet 2007, PubMed: Bouchet 2007 - - Germline - - - - - DNA SEQ - - WWS - PubMed: Bouchet 2007 aborted fetus (41w) - yes France - <0y - - - 1 Johan den Dunnen
?/. 3 c.151A>T r.(?) p.(Ile51Phe) Parent #1 - VUS g.134381529A>T g.131506142A>T - - POMT1_000199 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.165G>C r.(?) p.(Met55Ile) Unknown - VUS g.134381543G>C - POMT1(NM_001353198.1):c.3G>C (p.M1?) - UCK1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.176T>G r.(?) p.(Phe59Cys) Parent #1 - pathogenic (recessive) g.134381554T>G g.131506167T>G - - POMT1_000252 enzyme activity assessed in HeLa cells PubMed: Song 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - MDDG Pat84 PubMed: Song 2021 - M - China - - - - - 1 Johan den Dunnen
+?/. 3 c.180_182del r.(?) p.(Phe60del) Parent #1 - likely pathogenic g.134381558_134381560del g.131506171_131506173del 180-182delCCT - POMT1_000101 - - - - Germline - - - - - DNA SEQ - - MDC - - - M - (China) - - - - - 1 Yanghaipo
-/. 3 c.180_182del r.(?) p.(Phe60del) Parent #1 - benign g.134381558_134381560del g.131506171_131506173del - - POMT1_000101 - PubMed: Bouchet 2007 - - Germline - - - - - DNA SEQ - - LIS - PubMed: Bouchet 2007 aborted fetus - - (France) - <0y - - - 1 Johan den Dunnen
+/. - c.180_182del r.(?) p.(Phe60del) Parent #1 - pathogenic (recessive) g.134381558_134381560del g.131506171_131506173del c.180-182delCCT - POMT1_000101 - PubMed: Song 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - MDDG Pat80 PubMed: Song 2021 - M - China - - - - - 1 Johan den Dunnen
+/. - c.184del r.(?) p.(Asp62Metfs*18) Unknown - pathogenic g.134381562del - POMT1(NM_001077365.2):c.184del (p.(Asp62Metfs*18)), POMT1(NM_007171.4):c.184delG (p.D62Mfs*18) - UCK1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.184del r.(?) p.(Asp62Metfs*18) Unknown - likely pathogenic g.134381562del - POMT1(NM_001077365.2):c.184del (p.(Asp62Metfs*18)), POMT1(NM_007171.4):c.184delG (p.D62Mfs*18) - UCK1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.193G>A r.(?) p.(Gly65Arg) Parent #2 - pathogenic g.134381571G>A g.131506184G>A - - POMT1_000016 - PubMed: van Reeuwijk 2006, PubMed: Manya 2008, PubMed: Messina 2008, PubMed: Mercuri 2009, OMIM:var0006 - - Germline - - - - - DNA SEQ - - MDC 18513969-Pat9, 19299310-Pat9 PubMed: van Reeuwijk 2006, PubMed: Manya 2008, PubMed: Messina 2008, PubMed: Mercuri 2009 2-generation family, 3 affected sibs, unaffected heterozygous carrier parents - - Italy - >18y - - - 3 Johan den Dunnen
+/. 3 c.193G>A r.(?) p.(Gly65Arg) Parent #1 - pathogenic g.134381571G>A g.131506184G>A - - POMT1_000016 - - - - Germline - - - - - DNA SEQ - - MDC - - - F - United States - - - - - 1 Tom Winder
+/. 3 c.193G>A r.(?) p.(Gly65Arg) Parent #2 - pathogenic g.134381571G>A g.131506184G>A - - POMT1_000016 - PubMed: Godfrey 2007 - - Germline - - - - - DNA SEQ - - MDC Pat7/Pat61 PubMed: Clement, PubMed: O'Grady 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents - - - - - - - - 1 Johan den Dunnen
+/. 3 c.193G>A r.(?) p.(Gly65Arg) Parent #1 - pathogenic g.134381571G>A g.131506184G>A - - POMT1_000016 not in 400 control chromosomes PubMed: DAmico 2006, PubMed: Messina 2008, PubMed: Mercuri 2009, OMIM:var0010 - - Germline - - - - - DNA SEQ - - MDC 18513969-Pat4, 19299310-Pat5 PubMed: DAmico 2006, PubMed: Messina 2008, PubMed: Mercuri 2009 - F - Italy - >02y - - - 2 Johan den Dunnen
+/. 3 c.193G>A r.(?) p.(Gly65Arg) Parent #1 - pathogenic g.134381571G>A g.131506184G>A - - POMT1_000016 not in 400 control chromosomes PubMed: DAmico 2006, PubMed: Messina 2008, PubMed: Mercuri 2009, OMIM:var0010 - - Germline - - - - - DNA SEQ - - MDC 18513969-Pat3, 19299310-Pat4 PubMed: DAmico 2006, PubMed: Messina 2008, PubMed: Mercuri 2009 - M - Italy - >00y20m - - - 2 Johan den Dunnen
+/. 3 c.193G>A r.(?) p.(Gly65Arg) Both (homozygous) - pathogenic g.134381571G>A g.131506184G>A G193A - POMT1_000016 - PubMed: Messina 2008, PubMed: Mercuri 2009 - - Germline - - - - - DNA SEQ - - MDC 18513969-Pat2, 19299310-Pat3 PubMed: Messina 2008, PubMed: Mercuri 2009 - M - Italy - - - - - 1 Rosário dos Santos
+/. 3 c.193G>A r.(?) p.(Gly65Arg) Parent #1 - pathogenic g.134381571G>A g.131506184G>A - - POMT1_000016 - PubMed: van Reeuwijk 2006, PubMed: Manya 2008, PubMed: Messina 2008, PubMed: Mercuri 2009, OMIM:var0006 - - Germline - - - - - DNA SEQ - - MDC 18513969-Pat8, 19299310-Pat8 PubMed: van Reeuwijk 2006, PubMed: Manya 2008, PubMed: Messina 2008, PubMed: Mercuri 2009 sib of Pat9 M - Italy - - - - - 1 Rosário dos Santos
?/. - c.197C>T r.(?) p.(Pro66Leu) Unknown - VUS g.134381575C>T g.131506188C>T POMT1(NM_001077365.1):c.197C>T (p.(Pro66Leu)), POMT1(NM_001136113.1):c.197C>T (p.P66L), POMT1(NM_001136113.2):c.197C>T (p.P66L) - POMT1_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.197C>T r.(?) p.(Pro66Leu) Parent #1 - VUS g.134381575C>T g.131506188C>T - - POMT1_000153 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+?/. - c.197C>T r.(?) p.(Pro66Leu) Unknown - likely pathogenic g.134381575C>T g.131506188C>T POMT1(NM_001077365.1):c.197C>T (p.(Pro66Leu)), POMT1(NM_001136113.1):c.197C>T (p.P66L), POMT1(NM_001136113.2):c.197C>T (p.P66L) - POMT1_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.197C>T r.(?) p.(Pro66Leu) Parent #1 - likely pathogenic (recessive) g.134381575C>T g.131506188C>T - - POMT1_000153 - PubMed: Johnson 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MDDG Pat17 PubMed: Johnson 2018 - M - - white - - - - 1 Johan den Dunnen
+?/. - c.197C>T r.(?) p.(Pro66Leu) Unknown - likely pathogenic g.134381575C>T g.131506188C>T - - POMT1_000153 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 1 Johan den Dunnen
?/. - c.197C>T r.(?) p.(Pro66Leu) Unknown - VUS g.134381575C>T - POMT1(NM_001077365.1):c.197C>T (p.(Pro66Leu)), POMT1(NM_001136113.1):c.197C>T (p.P66L), POMT1(NM_001136113.2):c.197C>T (p.P66L) - POMT1_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.197C>T r.(?) p.(Pro66Leu) Parent #2 - pathogenic (recessive) g.134381575C>T g.131506188C>T - - POMT1_000153 - PubMed: Song 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - MDDG Pat87 PubMed: Song 2021 - M - China - - - - - 1 Johan den Dunnen
?/. 3 c.202T>C r.(?) p.(Phe68Leu) Parent #1 - VUS g.134381580T>C g.131506193T>C - - POMT1_000200 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. 3 c.208C>A r.(?) p.(His70Asn) Parent #1 - VUS g.134381586C>A g.131506199C>A - - POMT1_000201 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 3 c.226G>A r.(?) p.(Gly76Arg) Parent #1 - pathogenic g.134381604G>A g.131506217G>A - - POMT1_000002 not in 210 control chromosomes (Nederland, Turkey) PubMed: Beltran-Valero de Bernabe 2002, PubMed: Cormand 2001, PubMed: Akasaka Manya 2004, OMIM:var0001 - rs28941782 Germline - - - - - DNA SEQ, SSCA - - WWS - PubMed: Beltran-Valero de Bernabe 2002, PubMed: Cormand 2001, PubMed: Akasaka Manya 2004 first cousin parents F;M yes Turkey - - - - - 1 Johan den Dunnen
?/. - c.230G>A r.(?) p.(Gly77Asp) Unknown ACMG VUS g.134381790G>A g.131506403G>A - - POMT1_000242 - - - - Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
?/. - c.246C>T r.(?) p.(Phe82=) Unknown - VUS g.134381806C>T g.131506419C>T POMT1(NM_001353196.1):c.139C>T (p.R47*) - UCK1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.247G>A r.(?) p.(Asp83Asn) Parent #1 - VUS g.134381807G>A g.131506420G>A - - POMT1_000202 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.251G>A r.(?) p.(Gly84Asp) Unknown - VUS g.134381811G>A g.131506424G>A - - POMT1_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.260dup r.(?) p.(Leu87Phefs*11) Parent #1 - pathogenic (recessive) g.134381820dup g.131506433dup c.260dupT - POMT1_000245 - PubMed: Yu 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - candidate 420-gene panel LGMD P100 PubMed: Yu 2017 analysis 180 LGMD patients F - China - - - - - 1 Johan den Dunnen
+/. - c.260dup r.(?) p.(Leu87PhefsTer11) Parent #1 - pathogenic (recessive) g.134381820dup g.131506433dup c.260dupT - POMT1_000245 - PubMed: Song 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - MDDG Pat88 PubMed: Song 2021 - F - China - - - - - 1 Johan den Dunnen
+?/. 4i c.280+1G>T r.spl? p.? Paternal (confirmed) - likely pathogenic g.134381841G>T g.131506454G>T - - POMT1_000090 - - - - Germline - - - - - DNA PCR, SEQ - - WWS - - - M - - Middle East - - - - 1 Tom Winder
+?/. 4i c.280+1G>T r.spl? p.? Maternal (confirmed) - likely pathogenic g.134381841G>T g.131506454G>T - - POMT1_000090 - - - - Germline - - - - - DNA PCR, SEQ - - WWS - - - M - - Middle East - - - - 1 Tom Winder
+/. 4i c.280+1G>T r.spl? p.? Parent #1 - pathogenic g.134381841G>T g.131506454G>T - - POMT1_000090 - PubMed: Manzini 2008 - - Germline - - - - - DNA SEQ - - WWS - PubMed: Manzini 2008 - - yes Saudi Arabia - - - - - 1 Rosário dos Santos
+/. 4i c.280+1G>T r.spl? p.? Parent #2 - pathogenic g.134381841G>T g.131506454G>T - - POMT1_000090 - PubMed: Manzini 2008 - - Germline - - - - - DNA SEQ - - WWS - PubMed: Manzini 2008 - - yes Saudi Arabia - - - - - 1 Rosário dos Santos
+/. 4i c.280+1G>T r.230_280del p.Gly77_Ala93del Parent #1 - pathogenic g.134381841G>T g.131506454G>T - - POMT1_000090 - PubMed: Judas 2009, PubMed: Lommel 2010 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - WWS - PubMed: Judas 2009 - M - Croatia (Hrvatska) Gypsy 2y6m - - - 1 Johan den Dunnen
+/. 4i c.280+1G>T r.230_280del p.Gly77_Ala93del Parent #2 - pathogenic g.134381841G>T g.131506454G>T - - POMT1_000090 - PubMed: Judas 2009, PubMed: Lommel 2010 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - WWS - PubMed: Judas 2009 - M - Croatia (Hrvatska) Gypsy 2y6m - - - 1 Johan den Dunnen
+/. 4i c.280+1G>T r.spl? p.? Parent #1 - pathogenic g.134381841G>T g.131506454G>T - - POMT1_000090 - PubMed: Manzini 2008 - - Germline - - - - - DNA SEQ - - WWS - PubMed: Manzini 2008 sib of patient Fam2-b - yes Saudi Arabia - - - - - 1 Rosário dos Santos
+/. 4i c.280+1G>T r.spl? p.? Parent #2 - pathogenic g.134381841G>T g.131506454G>T - - POMT1_000090 - PubMed: Manzini 2008 - - Germline - - - - - DNA SEQ - - WWS - PubMed: Manzini 2008 sib of patient Fam2-b - yes Saudi Arabia - - - - - 1 Rosário dos Santos
+/. 4i c.280+1G>T r.spl? p.? Parent #1 - pathogenic g.134381841G>T g.131506454G>T - - POMT1_000090 - PubMed: Manzini 2008 - - Germline - - - - - DNA SEQ - - WWS - PubMed: Manzini 2008 sib of patient Fam2-a - yes Saudi Arabia - - - - - 1 Rosário dos Santos
+/. 4i c.280+1G>T r.spl? p.? Parent #2 - pathogenic g.134381841G>T g.131506454G>T - - POMT1_000090 - PubMed: Manzini 2008 - - Germline - - - - - DNA SEQ - - WWS - PubMed: Manzini 2008 sib of patient Fam2-a - yes Saudi Arabia - - - - - 1 Rosário dos Santos
+/. 4i c.280+1G>T r.spl p.? Both (homozygous) - pathogenic g.134381841G>T g.131506454G>T - - POMT1_000090 - PubMed: Mercuri 2009 - - Germline - - - - - DNA SEQ - - MDC 19299310-Pat16 PubMed: Mercuri 2009 - - - Italy - - - - - 1 Johan den Dunnen
+/. - c.280+1G>T r.spl p.? Both (homozygous) ACMG pathogenic g.134381841G>T g.131506454G>T - - POMT1_000090 ACMG PVS1, PM2, PP1 PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ-NG - 758-gene panel ID 12DG1800 PubMed: Anazi 2017 familial M yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.280+1G>T r.spl? p.? Both (homozygous) ACMG pathogenic g.134381841G>T g.131506454G>T NM_001077365.1:c.280+1G>T - POMT1_000090 ACMG PVS1, PS4, PM2, PP1 PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ-NG - 758-gene panel ID 08DG00271 PubMed: Anazi 2017 familial F yes Saudi Arabia - - - - - 1 Johan den Dunnen
-?/. 4i c.280+271G>A r.(=) p.(=) Both (homozygous) - likely benign g.134382111G>A g.131506724G>A - - POMT1_000140 - PubMed: Almomani 2011 - rs10448341 Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD, TSC - PubMed: Almomani 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. 5 c.281-82C>T r.(?) p.(=) Unknown - benign g.134382673C>T g.131507286C>T - - POMT1_000053 - - - rs6597501 Germline - - -HhI - - - - - - - - - - - - - - - - - - - -
+/. 5 c.291del r.(?) p.(Ser97Argfs*26) Parent #2 - pathogenic g.134382765del g.131507378del - - POMT1_000116 - PubMed: Vajsar, 2008 - - Germline - - - - - DNA SEQ - - WWS - PubMed: Vasjar, 2008 Cleft lip and palate M - - - 9m - - - 1 Rosário dos Santos
+/. 5 c.313C>T r.(?) p.(Arg105Cys) Parent #1 - pathogenic g.134382787C>T g.131507400C>T - - POMT1_000025 - - - - Germline - - - - - DNA SEQ - - MDC - - - M no China - 00y10m - - - 1 Yanghaipo
+/. 5 c.313C>T r.(?) p.(Arg105Cys) Parent #1 - pathogenic g.134382787C>T g.131507400C>T - - POMT1_000025 - PubMed: van Reeuwijk 2006 - - Germline - - - - - DNA SEQ - - WWS - PubMed: van Reeuwijk 2006 - - - Pakistan - - - - - 1 Johan den Dunnen
+/. - c.313C>T r.(?) p.(Arg105Cys) Parent #1 - pathogenic (recessive) g.134382787C>T g.131507400C>T - - POMT1_000025 - PubMed: Song 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - MDDG Pat77 PubMed: Song 2021 - M - China - - - - - 1 Johan den Dunnen
+/. 5 c.314G>A r.(?) p.(Arg105His) Parent #1 - pathogenic g.134382788G>A g.131507401G>A - - POMT1_000026 - PubMed: van Reeuwijk 2006 - - Germline - - - - - DNA SEQ - - WWS - PubMed: van Reeuwijk 2006 2 affecteds - - Lebanon - - - - - 2 Johan den Dunnen
-/. 5 c.318G>A r.(?) p.(=) Unknown - benign g.134382792G>A g.131507405G>A - - POMT1_000066 found in one patient PubMed: Godfrey 2007 - - Germline - - - - - DNA SEQ - - MD - PubMed: Godfrey 2007 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.330C>G r.(?) p.(Leu110=) Unknown - likely benign g.134382804C>G g.131507417C>G POMT1(NM_001353198.1):c.168C>G (p.L56=), POMT1(NM_007171.3):c.330C>G (p.(Leu110=)) - UCK1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.330C>G r.(?) p.(Leu110=) Unknown - likely benign g.134382804C>G - POMT1(NM_001353198.1):c.168C>G (p.L56=), POMT1(NM_007171.3):c.330C>G (p.(Leu110=)) - UCK1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.357del r.(?) p.(Tyr120Thrfs*3) Unknown ACMG pathogenic g.134382831del g.131507444del 357delC - POMT1_000248 - - - - Germline yes - - - - DNA SEQ-NG - - MDDGB Case 29 - - F no (Korea, South (Republic)) Korea - - - - 1 Young Jun Ko
+/. - c.361C>T r.(?) p.(Gln121*) Unknown - pathogenic g.134382835C>T - - - UCK1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.385del r.(?) p.(Ser129Leufs*11) Parent #1 - likely pathogenic g.134382859del g.131507472del - - POMT1_000082 - - - - Germline - - - - - DNA SEQ - - WWS - - - F - (United States) - - - - - 1 Tom Winder
+/. 5 c.418_420del r.(?) p.(Met140del) Parent #2 - pathogenic g.134382892_134382894del g.131507505_131507507del 418_420delATG - POMT1_000020 - PubMed: van Reeuwijk 2006, PubMed: Messina 2008, PubMed: Mercuri 2009 - - Germline - - - - - DNA SEQ - - MDC 18513969-Pat11, 19299310-Pat12 PubMed: van Reeuwijk 2006, PubMed: Messina 2008, PubMed: Mercuri 2009 - F - Italy - >17y - - - 2 Johan den Dunnen
?/. 5 c.424A>T r.(?) p.(Ile142Phe) Parent #1 - VUS g.134382898A>T g.131507511A>T - - POMT1_000203 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.