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.

143 entries on 2 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     
?/. - 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 - - 0 - DNA SEQ - - LGMD2 - - 2-generation family, 1 affected, unaffected carrier parents F - India - >12y 0 - - 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) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.79G>C r.(?) p.(Asp27His) Parent #1 - pathogenic (recessive) g.49761081C>G g.49723648C>G - - GMPPB_000004 - PubMed: O'Grady 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - - MDC Pat20 PubMed: O'Grady 2016 2-generation family, unaffected heterozygous carrier parents F - Australia - >24y 0 - - 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 - - 0 - DNA SEQ - - LGMD2 - - 2-generation family, 1 affected, unaffected carrier parents M - United Kingdom (Great Britain) - >6y 0 - - 1 Johan den Dunnen
+?/. - c.79G>C r.(?) p.(Asp27His) Parent #1 - likely pathogenic g.49761081C>G g.49723648C>G - - GMPPB_000004 - - - rs142336618 Germline - - - 0 - DNA PCR, SEQ - - MDC - - - M - United States white - 0 - - 1 Tom Winder
+/. - c.79G>C r.(?) p.(Asp27His) Unknown - pathogenic g.49761081C>G g.49723648C>G - - GMPPB_000004 - - - rs142336618 Germline - - - 0 - DNA PCR, SEQ - - MDDGB - - - - - United States - - 0 - - 1 Tom Winder
+/. - c.79G>C r.(?) p.(Asp27His) Unknown - pathogenic g.49761081C>G g.49723648C>G - - GMPPB_000004 - - - rs142336618 Germline - - - 0 - DNA PCR, SEQ - - MDDGB - - - - - United States - - 0 - - 1 Tom Winder
+/. - c.79G>C r.(?) p.(Asp27His) Unknown - pathogenic g.49761081C>G g.49723648C>G - - GMPPB_000004 - - - - Germline ? - - 0 - DNA PCR, SEQ - - MDDGB - - - - - United States - - 0 - - 1 Tom Winder
+/. - c.79G>C r.(?) p.(Asp27His) Unknown - pathogenic g.49761081C>G g.49723648C>G - - GMPPB_000004 - - - - Germline ? - - 0 - DNA PCR, SEQ - - MDDGB - - - - - United States - - 0 - - 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 - - 0 - 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 - - 0 - - 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 - - - 0 - DNA SEQ, SEQ-NG - WES MDDG Pat11 PubMed: Johnson 2018 - F - - white - 0 - - 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 - - - 0 - DNA SEQ, SEQ-NG - WES MDDG Pat12 PubMed: Johnson 2018 - M - - white - 0 - - 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 - - - 0 - DNA SEQ, SEQ-NG - WES MDDG Pat13 PubMed: Johnson 2018 - M - - white - 0 - - 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 - 0 - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - 3 Johan den Dunnen
?/. - c.79G>C r.(?) p.(Asp27His) Unknown - VUS g.49761081C>G - GMPPB(NM_013334.3):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) - 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) - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.79G>C r.(?) p.(Asp27His) Unknown ACMG likely pathogenic g.49761081C>G - - - GMPPB_000004 - - - - Germline - - - 0 - DNA SEQ - - LGMD2T;MDDGC14 7 - - F - - - - - - - 1 Martin Krenn
+/. - c.79G>C r.(?) p.(Asp27His) Unknown ACMG pathogenic g.49761081C>G - - - GMPPB_000004 - - - - Germline - - - 0 - DNA SEQ - - LGMD2T;MDDGC14 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) - GMPPB_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.94C>T r.(?) p.(Pro32Ser) Unknown - likely pathogenic g.49761066G>A g.49723633G>A - - GMPPB_000018 - - - - Germline - - - 0 - DNA PCR, SEQ - - MDDGB - - - - - United States - - 0 - - 1 Tom Winder
?/. - c.95C>A r.(?) p.(Pro32His) Unknown - VUS g.49761065G>T g.49723632G>T - - GMPPB_000008 - - - - Unknown - 0.000077 - 0 - DNA SEQ - - Healthy/Control - - - - - - - - 0 - - 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 - - 0 - DNA SEQ, SEQ-NG-I - - MDC - - 2-generation family, 1 affected, unaffected carrier parents F - Italy - 14y 0 - - 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 - - 0 - DNA SEQ, SEQ-NG-I - - MDC - - 2-generation family, 1 affected, unaffected carrier parents F - Italy - >10y 0 - - 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 - - 0 - 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 - - 0 - - 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 - - - 0 - DNA SEQ - - DA D18-0741 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - 0 - - 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) - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - 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 - - - 0 - DNA SEQ, SEQ-NG - WES MDDG Pat13 PubMed: Johnson 2018 - M - - white - 0 - - 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 - 0 - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - 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 - - 0 - DNA SEQ, SEQ-NG-I - - MEB - - 2-generation family, 1 affected, unaffected carrier parents M - Pakistan - >8y 0 - - 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 - - - 0 - DNA SEQ - - DA D19-0998 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - 0 - - 1 Gianina Ravenscroft
?/. - c.291_294del r.(?) p.(Ser98ArgfsTer13) Unknown - VUS g.49760515_49760518del g.49723082_49723085del - - GMPPB_000029 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - F - - - - 0 - - 1 IMGAG
+/. - c.291_294del r.(?) p.(Ser98ArgfsTer13) Parent #1 - pathogenic (recessive) g.49760515_49760518del g.49723082_49723085del - - GMPPB_000029 - PubMed: Froukh 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - NDD TF009 PubMed: Froukh 2020 analysis 103 families with neurodevelopmental disorders - - Jordan - - 0 - - 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.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_013334.3):c.330C>T (p.D110=) - GMPPB_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - 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 - - - 0 - DNA SEQ, SEQ-NG - - MDDG Pat138 PubMed: Song 2021 - M - China - - 0 - - 1 Johan den Dunnen
?/. - c.332T>C r.(?) p.(Val111Ala) Unknown - VUS g.49760475A>G - GMPPB(NM_013334.3):c.332T>C (p.V111A) - AMIGO3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.343T>C r.(?) p.(Phe115Leu) Paternal (confirmed) ACMG likely pathogenic g.49760464A>G - - - GMPPB_000031 - - - - Germline yes - - 0 - DNA SEQ-NG - - MDDGA Case 28 - - M no (Korea, South (Republic)) Korea - 0 - - 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.H126D, p.(His126Asp)) - GMPPB_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.376C>G r.(?) p.(His126Asp) Unknown - likely benign g.49760431G>C g.49722998G>C GMPPB(NM_013334.3):c.376C>G (p.H126D, p.(His126Asp)) - GMPPB_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.391G>T r.(?) p.(Gly131Cys) Both (homozygous) ACMG likely pathogenic g.49760416C>A - - - GMPPB_000033 - - - - Germline yes - - 0 - DNA SEQ-NG - - MDDGC Case 26 - - M no (Korea, South (Republic)) Korea - 0 - - 1 Young Jun Ko
+?/. - c.391G>T r.(?) p.(Gly131Cys) Unknown ACMG likely pathogenic g.49760416C>A - - - GMPPB_000033 - - - - Germline yes - - 0 - DNA SEQ-NG - - MDDGC Case 27 - - M no (Korea, South (Republic)) Korea - 0 - - 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 - - - 0 - DNA SEQ, SEQ-NG - - MDDG Pat135 PubMed: Song 2021 - M - China - - 0 - - 1 Johan den Dunnen
+?/. - c.395C>G r.(?) p.(Ser132Cys) Parent #1 - likely pathogenic g.49760412G>C g.49722979G>C - - GMPPB_000011 - - - rs145535498 Germline - - - 0 - DNA PCR, SEQ - - MDC - - - F - United States white - 0 - - 1 Tom Winder
+/. - c.402+1G>A r.spl p.? Unknown - pathogenic g.49760404C>T g.49722971C>T - - GMPPB_000015 - - - - Germline - - - 0 - DNA PCR, SEQ - - MDDGB - - - - - United States - - 0 - - 1 Tom Winder
+/. - c.432C>A r.(?) p.(Tyr144*) Unknown - pathogenic g.49760158G>T - - - AMIGO3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - 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_013334.3):c.516C>G (p.N172K) - AMIGO3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.551= r.(=) p.(Arg184=) Unknown - benign g.49760039T>C g.49722606T>C GMPPB(NM_013334.3):c.551A>G (p.Q184R) - GMPPB_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - 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 - - 0 - 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 0 - - 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 - - 0 - DNA SEQ - - MDC - - 2-generation family, 1 affected, unaffected carrier mother F - Mexico - >13y 0 - - 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 - - 0 - DNA SEQ, SEQ-NG-I - - LGMD2 - - 2-generation family, 1 affected, unaffected carrier parents M - Egypt - >18y 0 - - 1 Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Cys) Paternal (inferred) - pathogenic g.49760037G>A g.49722604G>A - - GMPPB_000002 - - - - Germline - - - 0 - DNA PCR, SEQ - - MDC - - - F yes United States Hispanic - 0 - - 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 - - 0 - DNA SEQ - - MDC - - 2-generation family, 1 affected, unaffected carrier mother F - Mexico - >13y 0 - - 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 - - 0 - DNA SEQ, SEQ-NG-I - - LGMD2 - - 2-generation family, 1 affected, unaffected carrier parents M - Egypt - >18y 0 - - 1 Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Cys) Maternal (inferred) - pathogenic g.49760037G>A g.49722604G>A - - GMPPB_000002 - - - - Germline - - - 0 - DNA PCR, SEQ - - MDC - - - F yes United States Hispanic - 0 - - 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) - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.553C>T r.(?) p.(Arg185Cys) Both (homozygous) - likely pathogenic g.49760037G>A g.49722604G>A - - GMPPB_000002 - PubMed: Gonzalez-Quereda 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - 166-gene panel NMD P165 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - 0 - - 1 Johan den Dunnen
-?/. - c.561+18G>T r.(=) p.(=) Unknown - likely benign g.49760011C>A g.49722578C>A GMPPB(NM_013334.3):c.561+18G>T - GMPPB_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - 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 - - - 0 - DNA SEQ, SEQ-NG - - MDDG Pat137 PubMed: Song 2021 - M - China - - 0 - - 1 Johan den Dunnen
+?/. - c.656T>C r.(?) p.(Ile219Thr) Parent #1 - likely pathogenic g.49759776A>G g.49722343A>G - - GMPPB_000012 - - - - Germline - - - 0 - DNA PCR, SEQ - - MDC - - - F - United States - - 0 - - 1 Tom Winder
+?/. - c.656T>C r.(?) p.(Ile219Thr) Parent #1 - likely pathogenic g.49759776A>G g.49722343A>G - - GMPPB_000012 - - - - Germline - - - 0 - DNA SEQ-NG - - MDC - - - F - United States - - 0 - - 1 Tom Winder
+/. - c.656T>C r.(?) p.(Ile219Thr) Paternal (confirmed) - pathogenic g.49759776A>G g.49722343A>G - - GMPPB_000012 - PubMed: Raphael 2014, Journal: Raphael 2014 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - - MEB - PubMed: Raphael 2014, Journal: Raphael 2014 2-generation family, 2 affecteds, unaffected heterozygous carrier parents/sibs F no United States Jewish-Ashkenazi;Ukrain;Poland;Ireland - 0 - - 2 Johan den Dunnen
?/. - c.714G>T r.(?) p.(Gln238His) Unknown - VUS g.49759718C>A g.49722285C>A - - GMPPB_000028 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - F - - - - 0 - - 1 IMGAG
+/. - c.714G>T r.(?) p.(Gln238His) Parent #2 - pathogenic (recessive) g.49759718C>A g.49722285C>A - - GMPPB_000028 - PubMed: Froukh 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - NDD TF009 PubMed: Froukh 2020 analysis 103 families with neurodevelopmental disorders - - Jordan - - 0 - - 1 Johan den Dunnen
+?/. - c.721C>T r.(?) p.(Pro241Ser) Unknown - likely pathogenic g.49759711G>A g.49722278G>A - - GMPPB_000016 - - - - Germline ? - - 0 - DNA PCR, SEQ - - MDDGB - - - - - United States - - 0 - - 1 Tom Winder
+?/. - c.760G>A r.(?) p.(Val254Met) Unknown - likely pathogenic g.49759672C>T g.49722239C>T - - GMPPB_000014 - - - - Germline ? - - 0 - DNA PCR, SEQ - - MDDGB - - - - - United States - - 0 - - 1 Tom Winder
+?/. - c.787G>A r.(?) p.(Gly263Ser) Unknown ACMG likely pathogenic g.49759562C>T - - - GMPPB_000032 - - - - Germline yes - - 0 - DNA SEQ-NG - - MDDGC Case 27 - - M no (Korea, South (Republic)) Korea - 0 - - 1 Young Jun Ko
+?/. - c.787G>A r.(?) p.(Gly263Ser) Maternal (confirmed) ACMG likely pathogenic g.49759562C>T - - - GMPPB_000032 - - - - Germline yes - - 0 - DNA SEQ-NG - - MDDGA Case 28 - - M no (Korea, South (Republic)) Korea - 0 - - 1 Young Jun Ko
+/. - c.787G>A r.(?) p.(Gly263Ser) Parent #1 - pathogenic (recessive) g.49759562C>T g.49722129C>T NM_021971.2:c.787G>A - GMPPB_000032 - PubMed: Song 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - MDDG Pat135 PubMed: Song 2021 - M - China - - 0 - - 1 Johan den Dunnen
+/. - c.790C>T r.(?) p.(Gln264*) Parent #2 - pathogenic g.49759559G>A g.49722126G>A - - GMPPB_000010 - - - - Germline - - - 0 - DNA PCR, SEQ - - MDC - - - M - United States white - 0 - - 1 Tom Winder
+?/. - c.848G>C r.(?) p.(Gly283Ala) Unknown ACMG likely pathogenic g.49759501C>G - - - GMPPB_000044 - - - - Germline - - - 0 - DNA SEQ - - LGMD2T;MDDGC14 7 - - F - - - - - - - 1 Martin Krenn
+/. - c.851T>C r.(?) p.(Val284Ala) Parent #2 - pathogenic (recessive) g.49759498A>G g.49722065A>G NM_021971.2:c.851T>C (Val284Leu) - GMPPB_000041 - PubMed: Song 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - MDDG Pat136 PubMed: Song 2021 - M - China - - 0 - - 1 Johan den Dunnen
+?/. - c.859C>T r.(?) p.(Arg287Trp) Maternal (confirmed) - likely pathogenic g.49759490G>A g.49722057G>A - - GMPPB_000013 - - - rs142908436 Germline - - - 0 - DNA PCR, SEQ - - MDC - - - F - United States - - 0 - - 1 Tom Winder
+/. - c.859C>T r.(?) p.(Arg287Trp) Unknown - pathogenic g.49759490G>A g.49722057G>A - - GMPPB_000013 - Lazar ASHG2018 P1192 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - FSHD ASHG2018-P1192 Lazar ASHG2018 P1192 - F no Brazil - - 0 - - 1 Johan den Dunnen
+?/. - c.859C>T r.(?) p.(Arg287Trp) Parent #2 - likely pathogenic (recessive) g.49759490G>A g.49722057G>A - - GMPPB_000013 - PubMed: Johnson 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES MDDG Pat11 PubMed: Johnson 2018 - F - - white - 0 - - 1 Johan den Dunnen
+?/. - c.859C>T r.(?) p.(Arg287Trp) Parent #2 - likely pathogenic (recessive) g.49759490G>A g.49722057G>A - - GMPPB_000013 - PubMed: Johnson 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES MDDG Pat12 PubMed: Johnson 2018 - M - - white - 0 - - 1 Johan den Dunnen
+?/. - c.859C>T r.(?) p.(Arg287Trp) Unknown - likely pathogenic g.49759490G>A g.49722057G>A - - GMPPB_000013 combination of variants not reported PubMed: Topf 2020 - - Germline - 2/1001 cases - 0 - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - 2 Johan den Dunnen
+/. - c.860G>A r.(?) p.(Arg287Gln) Parent #2 - pathogenic g.49759489C>T g.49722056C>T - - GMPPB_000006 exome sequencing PubMed: Carss 2013 - - Germline yes - - 0 - DNA SEQ, SEQ-NG-I - - MDC - - 2-generation family, 1 affected, unaffected carrier parents F - Italy - 14y 0 - - 1 Johan den Dunnen
+/. - c.860G>A r.(?) p.(Arg287Gln) Parent #2 - pathogenic g.49759489C>T g.49722056C>T - - GMPPB_000006 exome sequencing PubMed: Carss 2013 - - Germline yes - - 0 - DNA SEQ, SEQ-NG-I - - MDC - - 2-generation family, 1 affected, unaffected carrier parents F - Italy - >10y 0 - - 1 Johan den Dunnen
+?/. - c.860G>A r.(?) p.(Arg287Gln) Parent #2 - likely pathogenic g.49759489C>T g.49722056C>T - - GMPPB_000006 - - - rs202160208 Germline - - - 0 - DNA PCR, SEQ - - MDC - - - F - United States white - 0 - - 1 Tom Winder
+/. - c.860G>A r.(?) p.(Arg287Gln) Parent #2 - pathogenic g.49759489C>T g.49722056C>T - - GMPPB_000006 - - - - Germline - - - 0 - DNA PCR, SEQ - - MDC - - - F - United States - - 0 - - 1 Tom Winder
+/. - c.860G>A r.(?) p.(Arg287Gln) Paternal (inferred) - pathogenic g.49759489C>T g.49722056C>T - - GMPPB_000006 - - - - Germline - - - 0 - DNA PCR, SEQ - - MDC - - - F - United States - - 0 - - 1 Tom Winder
+/. - c.860G>A r.(?) p.(Arg287Gln) Parent #2 - pathogenic g.49759489C>T g.49722056C>T - - GMPPB_000006 - - - - Germline - - - 0 - DNA SEQ-NG - - MDC - - - F - United States - - 0 - - 1 Tom Winder
+/. - c.860G>A r.(?) p.(Arg287Gln) Maternal (confirmed) - pathogenic g.49759489C>T g.49722056C>T - - GMPPB_000006 - PubMed: Raphael 2014, Journal: Raphael 2014 - rs202160208 Germline yes - - 0 - DNA SEQ, SEQ-NG - - MEB - PubMed: Raphael 2014, Journal: Raphael 2014 2-generation family, 2 affecteds, unaffected heterozygous carrier parents/sibs F no United States Jewish-Ashkenazi;Ukrain;Poland;Ireland - 0 - - 2 Johan den Dunnen
+/. - c.860G>A r.(?) p.Arg287Gln Unknown - NA g.49759489C>T g.49722056C>T - - GMPPB_000006 in vitro expression cloning C2C12 GMPPB cytoplasmic aggregation PubMed: Carss 2013 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.860G>A r.(?) p.(Arg287Gln) Unknown ACMG likely pathogenic g.49759489C>T - - - GMPPB_000006 - - - - Germline - - - 0 - DNA SEQ - - LGMD2T;MDDGC14 18 - - F - - - - - - - 1 Martin Krenn
+/. - c.860G>T r.(?) p.(Arg287Leu) Parent #1 - pathogenic (recessive) g.49759489C>A g.49722056C>A NM_021971.2:c.860G>T - GMPPB_000040 - PubMed: Song 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - MDDG Pat136 PubMed: Song 2021 - M - China - - 0 - - 1 Johan den Dunnen
-?/. - c.863G>A r.(?) p.(Arg288Gln) Unknown - likely benign g.49759486C>T g.49722053C>T GMPPB(NM_013334.3):c.863G>A (p.(Arg288Gln)) - GMPPB_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.877C>T r.(?) p.(Arg293Trp) Parent #2 - pathogenic (recessive) g.49759472G>A g.49722039G>A NM_021971.2:c.877C>T - GMPPB_000039 - PubMed: Song 2021 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - MDDG Pat140 PubMed: Song 2021 - F - China - - 0 - - 1 Johan den Dunnen
-?/. - c.881A>G r.(?) p.(Asp294Gly) Unknown - likely benign g.49759468T>C g.49722035T>C GMPPB(NM_013334.3):c.881A>G (p.D294G) - AMIGO3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.951+10T>G r.(=) p.(=) Unknown - likely benign g.49759388A>C g.49721955A>C GMPPB(NM_013334.3):c.961T>G (p.(Trp321Gly)) - AMIGO3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.951+14C>G r.(=) p.(=) Unknown - likely benign g.49759384G>C g.49721951G>C GMPPB(NM_013334.3):c.965C>G (p.(Ala322Gly)) - AMIGO3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.951+14_951+15del r.(=) p.(=) Unknown - likely benign g.49759383_49759384del g.49721950_49721951del GMPPB(NM_013334.3):c.965_966del (p.(Ala322GlyfsTer15)) - AMIGO3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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