Full data view for gene GMPPB

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp)
Information The variants shown are described using the NM_021971.2 transcript reference sequence.

213 entries on 3 pages. Showing entries 1 - 100.
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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     
+?/. 1 c.2T>G r.(?) p.(Met1?) Unknown ACMG likely pathogenic g.49761158A>C g.49723725A>C - - GMPPB_000047 - Verebi et al. (submitted) - - Germline - - - - - DNA SEQ-NG-I - WGS MDDGB - Verebi et al. (submitted) - M - France - - - - - 1 Camille Verebi
?/. - c.53C>G r.(?) p.(Thr18Arg) Unknown - VUS g.49761107G>C g.49723674G>C GMPPB(NM_013334.3):c.53C>G (p.T18R) - AMIGO3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.64C>T r.(?) p.(Pro22Ser) Parent #1 - pathogenic g.49761096G>A g.49723663G>A - - GMPPB_000001 - PubMed: Carss 2013 - - Germline yes - - - - DNA SEQ - - LGMD2 - - 2-generation family, 1 affected, unaffected carrier parents F - India - >12y - - - 1 Johan den Dunnen
+/. - c.64C>T r.(?) p.Pro22Ser Unknown - NA g.49761096G>A g.49723663G>A - - GMPPB_000001 in vitro expression cloning C2C12 GMPPB cytoplasmic aggregation near membrane protrusions PubMed: Carss 2013 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.79G>C r.(?) p.(Asp27His) Parent #1 - pathogenic (recessive) g.49761081C>G g.49723648C>G - - GMPPB_000004 - PubMed: O'Grady 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - - MDC Pat20 PubMed: O'Grady 2016 2-generation family, unaffected heterozygous carrier parents F - Australia - >24y - - - 1 Sandra Cooper
+/. - c.79G>C r.(?) p.(Asp27His) Parent #1 - pathogenic g.49761081C>G g.49723648C>G - - GMPPB_000004 - PubMed: Carss 2013 - - Germline yes - - - - DNA SEQ - - LGMD2 - - 2-generation family, 1 affected, unaffected carrier parents M - United Kingdom (Great Britain) - >6y - - - 1 Johan den Dunnen
+?/. - c.79G>C r.(?) p.(Asp27His) Parent #1 - likely pathogenic g.49761081C>G g.49723648C>G - - GMPPB_000004 - - - rs142336618 Germline - - - - - DNA PCR, SEQ - - MDC - - - M - United States white - - - - 1 Tom Winder
+/. - c.79G>C r.(?) p.(Asp27His) Unknown - pathogenic g.49761081C>G g.49723648C>G - - GMPPB_000004 - - - rs142336618 Germline - - - - - DNA PCR, SEQ - - MDDGB - - - - - United States - - - - - 1 Tom Winder
+/. - c.79G>C r.(?) p.(Asp27His) Unknown - pathogenic g.49761081C>G g.49723648C>G - - GMPPB_000004 - - - rs142336618 Germline - - - - - DNA PCR, SEQ - - MDDGB - - - - - United States - - - - - 1 Tom Winder
+/. - c.79G>C r.(?) p.(Asp27His) Unknown - pathogenic g.49761081C>G g.49723648C>G - - GMPPB_000004 - - - - Germline ? - - - - DNA PCR, SEQ - - MDDGB - - - - - United States - - - - - 1 Tom Winder
+/. - c.79G>C r.(?) p.(Asp27His) Unknown - pathogenic g.49761081C>G g.49723648C>G - - GMPPB_000004 - - - - Germline ? - - - - DNA PCR, SEQ - - MDDGB - - - - - United States - - - - - 1 Tom Winder
+/. - c.79G>C r.(?) p.(Asp27His) Parent #1 - pathogenic g.49761081C>G g.49723648C>G - - GMPPB_000004 - PubMed: Cabrera-Serrano 2015, Journal: Cabrera-Serrano 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - - MDDGB - PubMed: Cabrera-Serrano 2015, Journal: Cabrera-Serrano 2015 3-generation family, 2 affected (FM), unaffected heterozygous carrier parents/sibs M no Australia - - - - - 2 Johan den Dunnen
+?/. - c.79G>C r.(?) p.(Asp27His) Parent #1 - likely pathogenic (recessive) g.49761081C>G g.49723648C>G - - GMPPB_000004 - PubMed: Johnson 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MDDG Pat11 PubMed: Johnson 2018 - F - - white - - - - 1 Johan den Dunnen
+?/. - c.79G>C r.(?) p.(Asp27His) Parent #1 - likely pathogenic (recessive) g.49761081C>G g.49723648C>G - - GMPPB_000004 - PubMed: Johnson 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MDDG Pat12 PubMed: Johnson 2018 - M - - white - - - - 1 Johan den Dunnen
+?/. - c.79G>C r.(?) p.(Asp27His) Parent #2 - likely pathogenic (recessive) g.49761081C>G g.49723648C>G - - GMPPB_000004 - PubMed: Johnson 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MDDG Pat13 PubMed: Johnson 2018 - M - - white - - - - 1 Johan den Dunnen
+?/. - c.79G>C r.(?) p.(Asp27His) Unknown - likely pathogenic g.49761081C>G g.49723648C>G - - GMPPB_000004 combination of variants not reported PubMed: Topf 2020 - - Germline - 3/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 3 Johan den Dunnen
?/. - c.79G>C r.(?) p.(Asp27His) Unknown - VUS g.49761081C>G - GMPPB(NM_013334.3):c.79G>C (p.D27H, p.(Asp27His)), GMPPB(NM_013334.4):c.79G>C (p.D27H) - GMPPB_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.79G>C r.(?) p.(Asp27His) Unknown - pathogenic g.49761081C>G - GMPPB(NM_013334.3):c.79G>C (p.D27H, p.(Asp27His)), GMPPB(NM_013334.4):c.79G>C (p.D27H) - GMPPB_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.79G>C r.(?) p.Asp27His Unknown - NA g.49761081C>G g.49723648C>G - - GMPPB_000004 in vitro expression cloning C2C12 GMPPB normal distribution PubMed: Carss 2013 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.79G>C r.(?) p.(Asp27His) Unknown ACMG likely pathogenic g.49761081C>G - - - GMPPB_000004 - - - - Germline - - - - - DNA SEQ - - MDDGC14;LGMD2T 7 - - F - - - - - - - 1 Martin Krenn
+/. - c.79G>C r.(?) p.(Asp27His) Unknown ACMG pathogenic g.49761081C>G - - - GMPPB_000004 - - - - Germline - - - - - DNA SEQ - - MDDGC14;LGMD2T 18 - - F - - - - - - - 1 Martin Krenn
+?/. - c.79G>C r.(?) p.(Asp27His) Unknown - likely pathogenic g.49761081C>G - GMPPB(NM_013334.3):c.79G>C (p.D27H, p.(Asp27His)), GMPPB(NM_013334.4):c.79G>C (p.D27H) - GMPPB_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.79G>C r.(?) p.(Asp27His) Unknown - likely pathogenic g.49761081C>G - GMPPB(NM_013334.3):c.79G>C (p.D27H, p.(Asp27His)), GMPPB(NM_013334.4):c.79G>C (p.D27H) - GMPPB_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.79G>C r.(?) p.(Asp27His) Unknown ACMG pathogenic g.49761081C>G g.49723648C>G - - GMPPB_000004 - Verebi et al. (submitted) - - Germline - - - - - DNA SEQ-NG-I - WGS MDDGB - Verebi et al. (submitted) - M - France - - - - - 1 Camille Verebi
+?/. - c.79G>C r.(?) p.(Asp27His) Unknown - likely pathogenic g.49761081C>G - GMPPB(NM_013334.3):c.79G>C (p.D27H, p.(Asp27His)), GMPPB(NM_013334.4):c.79G>C (p.D27H) - GMPPB_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.79G>C r.(?) p.(Asp27His) Parent #1 - pathogenic (recessive) g.49761081C>G g.49723648C>G - - GMPPB_000004 - PubMed: Beecroft 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 336-gene panel MD PD141 PubMed: Beecroft 2020 analysis 2249 neurology patients F - (Australia);(New Zealand) - - - - - 1 Johan den Dunnen
+/. 1 c.79G>C r.(?) p.(Asp27His) Parent #1 - pathogenic (recessive) g.49761081C>G g.49723648C>G - - GMPPB_000004 - PubMed: Beecroft 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 464-gene panel MD WA1189 PubMed: Beecroft 2020 analysis 2249 neurology patients M - (Australia);(New Zealand) - - - - - 1 Johan den Dunnen
+?/. - c.79G>C r.(?) p.(Asp27His) Parent #1 - likely pathogenic (recessive) g.49761081C>G g.49723648C>G - - GMPPB_000004 ACMG PM1, PM2, PP3, PP5 PubMed: Kren 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - LGMD Pat4 PubMed: Kren 2022 patient - - Austria - - - - - 1 Johan den Dunnen
+?/. 1 c.79G>C r.(?) p.(Asp27His) Parent #1 - likely pathogenic (recessive) g.49761081C>G g.49723648C>G - - GMPPB_000004 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD284 PubMed: Nallamilli 2023 - M - United States - - - - - 1 Johan den Dunnen
+?/. 1 c.79G>C r.(?) p.(Asp27His) Parent #1 - likely pathogenic (recessive) g.49761081C>G g.49723648C>G - - GMPPB_000004 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD285 PubMed: Nallamilli 2023 - F - United States - - - - - 1 Johan den Dunnen
+?/. 1 c.79G>C r.(?) p.(Asp27His) Parent #1 - likely pathogenic (recessive) g.49761081C>G g.49723648C>G - - GMPPB_000004 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD286 PubMed: Nallamilli 2023 - F - United States - - - - - 1 Johan den Dunnen
+?/. 1 c.79G>C r.(?) p.(Asp27His) Parent #1 - likely pathogenic (recessive) g.49761081C>G g.49723648C>G - - GMPPB_000004 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD287 PubMed: Nallamilli 2023 - F - United States - - - - - 1 Johan den Dunnen
+?/. 1 c.79G>C r.(?) p.(Asp27His) Parent #1 - likely pathogenic (recessive) g.49761081C>G g.49723648C>G - - GMPPB_000004 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD288 PubMed: Nallamilli 2023 - F - United States - - - - - 1 Johan den Dunnen
+?/. 1 c.79G>C r.(?) p.(Asp27His) Parent #1 - likely pathogenic (recessive) g.49761081C>G g.49723648C>G - - GMPPB_000004 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD289 PubMed: Nallamilli 2023 - M - United States - - - - - 1 Johan den Dunnen
+?/. 1 c.79G>C r.(?) p.(Asp27His) Parent #1 - likely pathogenic (recessive) g.49761081C>G g.49723648C>G - - GMPPB_000004 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD290 PubMed: Nallamilli 2023 - M - United States - - - - - 1 Johan den Dunnen
+?/. 1 c.79G>C r.(?) p.(Asp27His) Parent #1 - likely pathogenic (recessive) g.49761081C>G g.49723648C>G - - GMPPB_000004 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD291 PubMed: Nallamilli 2023 - F - United States - - - - - 1 Johan den Dunnen
+?/. 1 c.79G>C r.(?) p.(Asp27His) Parent #1 - likely pathogenic (recessive) g.49761081C>G g.49723648C>G - - GMPPB_000004 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD292 PubMed: Nallamilli 2023 - M - United States - - - - - 1 Johan den Dunnen
+?/. 1 c.79G>C r.(?) p.(Asp27His) Parent #1 - likely pathogenic (recessive) g.49761081C>G g.49723648C>G - - GMPPB_000004 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD293 PubMed: Nallamilli 2023 - - - United States - - - - - 1 Johan den Dunnen
+?/. 1 c.79G>C r.(?) p.(Asp27His) Parent #1 - likely pathogenic (recessive) g.49761081C>G g.49723648C>G - - GMPPB_000004 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD294 PubMed: Nallamilli 2023 - F - United States - - - - - 1 Johan den Dunnen
+?/. - c.94C>T r.(?) p.(Pro32Ser) Unknown - likely pathogenic g.49761066G>A g.49723633G>A - - GMPPB_000018 - - - - Germline - - - - - DNA PCR, SEQ - - MDDGB - - - - - United States - - - - - 1 Tom Winder
?/. - c.95C>A r.(?) p.(Pro32His) Unknown - VUS g.49761065G>T g.49723632G>T - - GMPPB_000008 - - - - Unknown - 0.000077 - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 Johan den Dunnen
+/. - c.95C>T r.(?) p.(Pro32Leu) Parent #1 - pathogenic g.49761065G>A g.49723632G>A - - GMPPB_000003 exome sequencing PubMed: Carss 2013 - - Germline yes - - - - DNA SEQ, SEQ-NG-I - - MDC - - 2-generation family, 1 affected, unaffected carrier parents F - Italy - 14y - - - 1 Johan den Dunnen
+/. - c.95C>T r.(?) p.(Pro32Leu) Parent #1 - pathogenic g.49761065G>A g.49723632G>A - - GMPPB_000003 exome sequencing PubMed: Carss 2013 - - Germline yes - - - - DNA SEQ, SEQ-NG-I - - MDC - - 2-generation family, 1 affected, unaffected carrier parents F - Italy - >10y - - - 1 Johan den Dunnen
+/. - c.95C>T r.(?) p.(Pro32Leu) Parent #2 - pathogenic g.49761065G>A g.49723632G>A - - GMPPB_000003 - PubMed: Cabrera-Serrano 2015, Journal: Cabrera-Serrano 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - - MDDGB - PubMed: Cabrera-Serrano 2015, Journal: Cabrera-Serrano 2015 3-generation family, 2 affected (FM), unaffected heterozygous carrier parents/sibs M no Australia - - - - - 2 Johan den Dunnen
+/. - c.95C>T r.(?) p.(Pro32Leu) Parent #1 ACMG pathogenic (recessive) g.49761065G>A g.49723632G>A NM_198722:c.95C>T - GMPPB_000003 - PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - Germline - - - - - DNA SEQ - - DA D18-0741 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - 1 Gianina Ravenscroft
+/. - c.95C>T r.(?) p.Pro32Leu Unknown - NA g.49761065G>A g.49723632G>A - - GMPPB_000003 in vitro expression cloning C2C12 GMPPB cytoplasmic aggregation PubMed: Carss 2013 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.95C>T r.(?) p.(Pro32Leu) Parent #1 - likely pathogenic (recessive) g.49761065G>A g.49723632G>A - - GMPPB_000003 - PubMed: Rubegni 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 78-gene panel hCK Pat4 PubMed: Rubegni 2019 patient M - Italy - - - - - 1 Johan den Dunnen
+/. 1 c.95C>T r.(?) p.(Pro32Leu) Parent #1 - pathogenic (recessive) g.49761065G>A g.49723632G>A - - GMPPB_000003 - PubMed: Beecroft 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 336-gene panel MD JR142 PubMed: Beecroft 2020 analysis 2249 neurology patients F - (Australia);(New Zealand) - - - - - 1 Johan den Dunnen
+?/. 1 c.95C>T r.(?) p.(Pro32Leu) Parent #2 - likely pathogenic (recessive) g.49761065G>A g.49723632G>A - - GMPPB_000003 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD284 PubMed: Nallamilli 2023 - M - United States - - - - - 1 Johan den Dunnen
-?/. - c.129+7C>A r.(=) p.(=) Unknown - likely benign g.49761024G>T g.49723591G>T GMPPB(NM_013334.3):c.129+7C>A (p.(=)) - AMIGO3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.187G>A r.(?) p.(Glu63Lys) Unknown - VUS g.49760848C>T g.49723415C>T - - AMIGO3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.190del r.(?) p.(Met64*) Parent #1 - likely pathogenic (recessive) g.49760847del g.49723414del - - GMPPB_000030 - PubMed: Johnson 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MDDG Pat13 PubMed: Johnson 2018 - M - - white - - - - 1 Johan den Dunnen
+?/. - c.190del r.(?) p.(Met64*) Unknown - likely pathogenic g.49760847del g.49723414del - - GMPPB_000030 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.211-15del r.(=) p.(=) Unknown - likely benign g.49760756del g.49723323del - - AMIGO3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.211-1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.49760736C>T g.49723303C>T - - GMPPB_000055 - PubMed: Beecroft 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 464-gene panel MD WA1189 PubMed: Beecroft 2020 analysis 2249 neurology patients M - (Australia);(New Zealand) - - - - - 1 Johan den Dunnen
+/. - c.220C>T r.(?) p.(Arg74*) Parent #1 - pathogenic g.49760726G>A g.49723293G>A - - GMPPB_000009 exome sequencing; carries 2 MAN1B1 variants PubMed: Carss 2013 - - Germline yes - - - - DNA SEQ, SEQ-NG-I - - MEB - - 2-generation family, 1 affected, unaffected carrier parents M - Pakistan - >8y - - - 1 Johan den Dunnen
+/. - c.220C>T r.(?) p.(Arg74*) Parent #1 ACMG pathogenic (recessive) g.49760726G>A g.49723293G>A NM_198722:c.220C>T - GMPPB_000009 - PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - Germline - - - - - DNA SEQ - - DA D19-0998 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - 1 Gianina Ravenscroft
?/. - c.291_294del r.(?) p.(Ser98ArgfsTer13) Unknown - VUS g.49760515_49760518del g.49723082_49723085del - - GMPPB_000029 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
+/. - c.291_294del r.(?) p.(Ser98ArgfsTer13) Parent #1 - pathogenic (recessive) g.49760515_49760518del g.49723082_49723085del - - GMPPB_000029 - PubMed: Froukh 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD TF009 PubMed: Froukh 2020 analysis 103 families with neurodevelopmental disorders - - Jordan - - - - - 1 Johan den Dunnen
?/. - c.299C>T r.(?) p.(Thr100Ile) Unknown - VUS g.49760508G>A g.49723075G>A - - AMIGO3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.308C>T r.(?) p.(Pro103Leu) Parent #1 ACMG likely pathogenic g.49760499G>A g.49723066G>A - - GMPPB_000051 ACMG PM2, PP2, PP3, PM3 PubMed: Molaei 2025 SCV001755395 - Germline - - - - - DNA SEQ, SEQ-NG - WES MYOP Fam9812204Pat93 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M no Iran - - - - - 1 Johan den Dunnen
+?/. - c.308C>T r.(?) p.(Pro103Leu) Both (homozygous) ACMG likely pathogenic g.49760499G>A g.49723066G>A - - GMPPB_000051 ACMG PM2, PP2, PP3, PM3 PubMed: Molaei 2025 SCV001755395 - Germline - - - - - DNA SEQ, SEQ-NG - WES MD Fam9509346Pat1079 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F yes Iran - - - - - 1 Johan den Dunnen
-?/. - c.324C>T r.(?) p.(Asn108=) Unknown - likely benign g.49760483G>A g.49723050G>A GMPPB(NM_013334.3):c.324C>T (p.N108=) - AMIGO3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.330C>T r.(?) p.(Asp110=) Unknown - likely benign g.49760477G>A g.49723044G>A GMPPB(NM_013334.4):c.330C>T (p.D110=) - GMPPB_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.331G>A r.(?) p.(Val111Met) Parent #1 - pathogenic (recessive) g.49760476C>T g.49723043C>T NM_021971.2:c.331G>A - GMPPB_000043 - PubMed: Song 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - MDDG Pat138 PubMed: Song 2021 - M - China - - - - - 1 Johan den Dunnen
?/. - c.332T>C r.(?) p.(Val111Ala) Unknown - VUS g.49760475A>G - GMPPB(NM_013334.4):c.332T>C (p.V111A) - AMIGO3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.338G>A r.(?) p.(Cys113Tyr) Parent #2 - pathogenic (recessive) g.49760469C>T g.49723036C>T - - GMPPB_000053 - PubMed: Harris 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES LGMD Pat25 PubMed: Harris 2017 patient (parents not available) - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. - c.343T>C r.(?) p.(Phe115Leu) Paternal (confirmed) ACMG likely pathogenic g.49760464A>G - - - GMPPB_000031 - - - - Germline yes - - - - DNA SEQ-NG - - MDDGA Case 28 - - M no (Korea, South (Republic)) Korea - - - - 1 Young Jun Ko
-?/. - c.376C>G r.(?) p.(His126Asp) Unknown - likely benign g.49760431G>C g.49722998G>C GMPPB(NM_013334.3):c.376C>G (p.(His126Asp)), GMPPB(NM_013334.4):c.376C>G (p.H126D) - GMPPB_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.376C>G r.(?) p.(His126Asp) Unknown - likely benign g.49760431G>C g.49722998G>C GMPPB(NM_013334.3):c.376C>G (p.(His126Asp)), GMPPB(NM_013334.4):c.376C>G (p.H126D) - GMPPB_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.388_389delinAG r.(?) p.(Glu130Arg) Parent #2 - VUS g.49760418_49760419delinsCT g.49722985_49722986delinsCT 388_389delinAG - GMPPB_000057 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD291 PubMed: Nallamilli 2023 - F - United States - - - - - 1 Johan den Dunnen
+?/. - c.391G>T r.(?) p.(Gly131Cys) Both (homozygous) ACMG likely pathogenic g.49760416C>A - - - GMPPB_000033 - - - - Germline yes - - - - DNA SEQ-NG - - MDDGC Case 26 - - M no (Korea, South (Republic)) Korea - - - - 1 Young Jun Ko
+?/. - c.391G>T r.(?) p.(Gly131Cys) Unknown ACMG likely pathogenic g.49760416C>A - - - GMPPB_000033 - - - - Germline yes - - - - DNA SEQ-NG - - MDDGC Case 27 - - M no (Korea, South (Republic)) Korea - - - - 1 Young Jun Ko
+/. - c.391G>T r.(?) p.(Gly131Cys) Parent #2 - pathogenic (recessive) g.49760416C>A g.49722983C>A NM_021971.2:c.391G>T - GMPPB_000033 - PubMed: Song 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - MDDG Pat135 PubMed: Song 2021 - M - China - - - - - 1 Johan den Dunnen
+?/. - c.395C>G r.(?) p.(Ser132Cys) Parent #1 - likely pathogenic g.49760412G>C g.49722979G>C - - GMPPB_000011 - - - rs145535498 Germline - - - - - DNA PCR, SEQ - - MDC - - - F - United States white - - - - 1 Tom Winder
?/. 4 c.395C>G r.(?) p.(Ser132Cys) Parent #2 - VUS g.49760412G>C g.49722979G>C - - GMPPB_000011 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD292 PubMed: Nallamilli 2023 - M - United States - - - - - 1 Johan den Dunnen
+/. - c.402+1G>A r.spl p.? Unknown - pathogenic g.49760404C>T g.49722971C>T - - GMPPB_000015 - - - - Germline - - - - - DNA PCR, SEQ - - MDDGB - - - - - United States - - - - - 1 Tom Winder
+?/. - c.458C>T r.(?) p.(Thr153Ile) Both (homozygous) ACMG likely pathogenic g.49760132G>A g.49722699G>A - - GMPPB_000049 ACMG PM2, PP3, PP5Strong, PM3 PubMed: Molaei 2025 SCV001167077.1 - Germline - - - - - DNA SEQ, SEQ-NG - WES MYOP Fam202100Pat523 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history F yes Iran - - - - - 1 Johan den Dunnen
+/. 5 c.458C>T r.(?) p.(Thr153Ile) Both (homozygous) - pathogenic (recessive) g.49760132G>A g.49722699G>A - - GMPPB_000049 - PubMed: Beecroft 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 464-gene panel MD JS1188 PubMed: Beecroft 2020 analysis 2249 neurology patients F - (Australia);(New Zealand) - - - - - 1 Johan den Dunnen
+/. 5 c.458C>T r.(?) p.(Thr153Ile) Parent #2 - pathogenic (recessive) g.49760132G>A g.49722699G>A - - GMPPB_000049 - PubMed: Beecroft 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 336-gene panel ? DB140 PubMed: Beecroft 2020 analysis 2249 neurology patients M - (Australia);(New Zealand) - - - - - 1 Johan den Dunnen
+?/. 5 c.458C>T r.(?) p.(Thr153Ile) Parent #1 - likely pathogenic (recessive) g.49760132G>A g.49722699G>A - - GMPPB_000049 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD295 PubMed: Nallamilli 2023 - F - United States - - - - - 1 Johan den Dunnen
+?/. - c.458_459del r.(?) p.(Thr153ArgfsTer17) Parent #2 ACMG likely pathogenic g.49760134_49760135del g.49722701_49722702del - - GMPPB_000050 ACMG PVS1_str, PM2, PM3 PubMed: Molaei 2025 SCV001755680 - Germline - - - - - DNA SEQ, SEQ-NG - WES MYOP Fam9812204Pat93 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M no Iran - - - - - 1 Johan den Dunnen
?/. - c.506A>G r.(?) p.(Asn169Ser) Unknown - VUS g.49760084T>C g.49722651T>C GMPPB(NM_013334.4):c.506A>G (p.N169S) - AMIGO3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.516C>G r.(?) p.(Asn172Lys) Unknown - VUS g.49760074G>C - GMPPB(NM_013334.4):c.516C>G (p.N172K) - AMIGO3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.516C>G r.(?) p.(Asn172Lys) Parent #2 - VUS g.49760074G>C g.49722641G>C - - AMIGO3_000028 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD295 PubMed: Nallamilli 2023 - F - United States - - - - - 1 Johan den Dunnen
-/. - c.551= r.(=) p.(Arg184=) Unknown - benign g.49760039T>C g.49722606T>C GMPPB(NM_013334.4):c.551A>G (p.Q184R) - GMPPB_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.551= r.(=) p.(Arg184=) Unknown - benign g.49760039T>C - GMPPB(NM_013334.4):c.551A>G (p.Q184R) - GMPPB_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.553C>T r.(?) p.(Arg185Cys) Both (homozygous) - pathogenic (recessive) g.49760037G>A g.49722604G>A - - GMPPB_000002 exome sequencing PubMed: Carss 2013 - - Unknown yes - - - - DNA SEQ, SEQ-NG-I - - MDC Pat3/Pat31 PubMed: Carss 2013, PubMed: O'Grady 2016 2-generation family, unaffected heterozygous carrier parents M - Mexico - >16y - - - 1 Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Cys) Paternal (inferred) - pathogenic g.49760037G>A g.49722604G>A - - GMPPB_000002 - PubMed: Carss 2013 - - Unknown yes - - - - DNA SEQ - - MDC - - 2-generation family, 1 affected, unaffected carrier mother F - Mexico - >13y - - - 1 Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Cys) Paternal (confirmed) - pathogenic g.49760037G>A g.49722604G>A - - GMPPB_000002 exome sequencing PubMed: Carss 2013 - - Germline yes - - - - DNA SEQ, SEQ-NG-I - - LGMD2 - - 2-generation family, 1 affected, unaffected carrier parents M - Egypt - >18y - - - 1 Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Cys) Paternal (inferred) - pathogenic g.49760037G>A g.49722604G>A - - GMPPB_000002 - - - - Germline - - - - - DNA PCR, SEQ - - MDC - - - F yes United States Hispanic - - - - 1 Tom Winder
+/. - c.553C>T r.(?) p.(Arg185Cys) Maternal (confirmed) - pathogenic g.49760037G>A g.49722604G>A - - GMPPB_000002 - PubMed: Carss 2013 - - Germline yes - - - - DNA SEQ - - MDC - - 2-generation family, 1 affected, unaffected carrier mother F - Mexico - >13y - - - 1 Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Cys) Maternal (confirmed) - pathogenic g.49760037G>A g.49722604G>A - - GMPPB_000002 exome sequencing PubMed: Carss 2013 - - Germline yes - - - - DNA SEQ, SEQ-NG-I - - LGMD2 - - 2-generation family, 1 affected, unaffected carrier parents M - Egypt - >18y - - - 1 Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Cys) Maternal (inferred) - pathogenic g.49760037G>A g.49722604G>A - - GMPPB_000002 - - - - Germline - - - - - DNA PCR, SEQ - - MDC - - - F yes United States Hispanic - - - - 1 Tom Winder
-?/. - c.553C>T r.(?) p.Arg185Cys Unknown - NA g.49760037G>A g.49722604G>A - - GMPPB_000002 in vitro expression cloning C2C12 GMPPB normal distribution PubMed: Carss 2013 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.553C>T r.(?) p.(Arg185Cys) Both (homozygous) - likely pathogenic g.49760037G>A g.49722604G>A - - GMPPB_000002 - PubMed: Gonzalez-Quereda 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 166-gene panel NMD P165 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - - - - 1 Johan den Dunnen
?/. - c.554G>A r.(?) p.(Arg185His) Unknown - VUS g.49760036C>T - GMPPB(NM_021971.4):c.554G>A (p.(Arg185His)) - AMIGO3_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.561+18G>T r.(=) p.(=) Unknown - likely benign g.49760011C>A g.49722578C>A GMPPB(NM_013334.4):c.561+18G>T - GMPPB_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.586G>C r.(?) p.(Glu196Gln) Unknown - VUS g.49759919C>G g.49722486C>G GMPPB(NM_013334.3):c.586G>C (p.(Glu196Gln)) - AMIGO3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.589G>T r.(?) p.(Val197Phe) Parent #2 - pathogenic (recessive) g.49759916C>A g.49722483C>A NM_021971.2:c.589G>T - GMPPB_000042 - PubMed: Song 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - MDDG Pat137 PubMed: Song 2021 - M - China - - - - - 1 Johan den Dunnen
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