Unique variants in the GMPPB gene

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.

77 entries on 1 page. Showing entries 1 - 77.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. 1 - c.53C>G r.(?) p.(Thr18Arg) - 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 - - - - - VKGL-NL_Rotterdam
+/. 2 - c.64C>T r.(?) p.(Pro22Ser), p.Pro22Ser - NA, pathogenic g.49761096G>A g.49723663G>A - - GMPPB_000001 in vitro expression cloning C2C12 GMPPB cytoplasmic aggregation near membrane protrusions PubMed: Carss 2013 - - Germline, In vitro (cloned) -, yes - - - - Johan den Dunnen
+/., +?/., -?/., ?/. 18 - c.79G>C r.(?) p.(Asp27His), p.Asp27His ACMG likely pathogenic, likely pathogenic (recessive), NA, pathogenic, pathogenic (recessive), VUS g.49761081C>G g.49723648C>G GMPPB(NM_013334.3):c.79G>C (p.D27H) - GMPPB_000004 combination of variants not reported, in vitro expression cloning C2C12 GMPPB normal distribution, 1 more item PubMed: Cabrera-Serrano 2015, Journal: Cabrera-Serrano 2015, PubMed: Carss 2013, PubMed: Johnson 2018, 2 more items - rs142336618 CLASSIFICATION record, Germline, In vitro (cloned) -, ?, yes 3/1001 cases - - - Johan den Dunnen, Tom Winder, Sandra Cooper, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_VUmc, Martin Krenn
+?/. 1 - c.94C>T r.(?) p.(Pro32Ser) - likely pathogenic g.49761066G>A g.49723633G>A - - GMPPB_000018 - - - - Germline - - - - - Tom Winder
?/. 1 - c.95C>A r.(?) p.(Pro32His) - VUS g.49761065G>T g.49723632G>T - - GMPPB_000008 - - - - Unknown - 0.000077 - - - Johan den Dunnen
+/. 5 - c.95C>T r.(?) p.(Pro32Leu), p.Pro32Leu ACMG NA, pathogenic, pathogenic (recessive) g.49761065G>A g.49723632G>A NM_198722:c.95C>T - GMPPB_000003 exome sequencing, in vitro expression cloning C2C12 GMPPB cytoplasmic aggregation PubMed: Cabrera-Serrano 2015, Journal: Cabrera-Serrano 2015, PubMed: Carss 2013, 1 more item - - Germline, In vitro (cloned) -, yes - - - - Johan den Dunnen, Gianina Ravenscroft
-?/. 1 - c.129+7C>A r.(=) p.(=) - 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 - - - - - VKGL-NL_Leiden
?/. 1 - c.187G>A r.(?) p.(Glu63Lys) - VUS g.49760848C>T g.49723415C>T - - AMIGO3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 2 - c.190del r.(?) p.(Met64*) - likely pathogenic, likely pathogenic (recessive) g.49760847del g.49723414del - - GMPPB_000030 combination of variants not reported PubMed: Johnson 2018, PubMed: Topf 2020 - - Germline - 1/1001 cases - - - Johan den Dunnen
-?/. 1 - c.211-15del r.(=) p.(=) - likely benign g.49760756del g.49723323del - - AMIGO3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 - c.220C>T r.(?) p.(Arg74*) ACMG pathogenic, pathogenic (recessive) g.49760726G>A g.49723293G>A NM_198722:c.220C>T - GMPPB_000009 exome sequencing; carries 2 MAN1B1 variants PubMed: Carss 2013, PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - Germline yes - - - - Johan den Dunnen, Gianina Ravenscroft
+/., ?/. 2 - c.291_294del r.(?) p.(Ser98ArgfsTer13) - pathogenic (recessive), VUS g.49760515_49760518del g.49723082_49723085del - - GMPPB_000029 - PubMed: Froukh 2020 - - Germline, Unknown - - - - - Johan den Dunnen, IMGAG
?/. 1 - c.299C>T r.(?) p.(Thr100Ile) - VUS g.49760508G>A g.49723075G>A - - AMIGO3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.324C>T r.(?) p.(Asn108=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.330C>T r.(?) p.(Asp110=) - 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 - - - - - VKGL-NL_AMC
+/. 1 - c.331G>A r.(?) p.(Val111Met) - pathogenic (recessive) g.49760476C>T g.49723043C>T NM_021971.2:c.331G>A - GMPPB_000043 - PubMed: Song 2021 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.332T>C r.(?) p.(Val111Ala) - VUS g.49760475A>G - GMPPB(NM_013334.3):c.332T>C (p.V111A) - AMIGO3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. 1 - c.343T>C r.(?) p.(Phe115Leu) ACMG likely pathogenic g.49760464A>G - - - GMPPB_000031 - - - - Germline yes - - - - Young Jun Ko
-?/. 2 - c.376C>G r.(?) p.(His126Asp) - 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 - - - - - VKGL-NL_Leiden, VKGL-NL_AMC
+/., +?/. 3 - c.391G>T r.(?) p.(Gly131Cys) ACMG likely pathogenic, pathogenic (recessive) g.49760416C>A g.49722983C>A NM_021971.2:c.391G>T - GMPPB_000033 - PubMed: Song 2021 - - Germline yes - - - - Johan den Dunnen, Young Jun Ko
+?/. 1 - c.395C>G r.(?) p.(Ser132Cys) - likely pathogenic g.49760412G>C g.49722979G>C - - GMPPB_000011 - - - rs145535498 Germline - - - - - Tom Winder
+/. 1 - c.402+1G>A r.spl p.? - pathogenic g.49760404C>T g.49722971C>T - - GMPPB_000015 - - - - Germline - - - - - Tom Winder
+/. 1 - c.432C>A r.(?) p.(Tyr144*) - pathogenic g.49760158G>T - - - AMIGO3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.506A>G r.(?) p.(Asn169Ser) - 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 - - - - - VKGL-NL_Groningen
?/. 1 - c.516C>G r.(?) p.(Asn172Lys) - VUS g.49760074G>C - GMPPB(NM_013334.3):c.516C>G (p.N172K) - AMIGO3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.551= r.(=) p.(Arg184=) - 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 - - - - - VKGL-NL_AMC
+/., +?/., -?/. 9 - c.553C>T r.(?) p.(Arg185Cys), p.Arg185Cys - likely pathogenic, NA, pathogenic, pathogenic (recessive) g.49760037G>A g.49722604G>A - - GMPPB_000002 exome sequencing, in vitro expression cloning C2C12 GMPPB normal distribution PubMed: Carss 2013, PubMed: Gonzalez-Quereda 2020 - - Germline, In vitro (cloned), Unknown -, yes - - - - Johan den Dunnen, Tom Winder
-?/. 1 - c.561+18G>T r.(=) p.(=) - 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 - - - - - VKGL-NL_AMC
?/. 1 - c.586G>C r.(?) p.(Glu196Gln) - 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 - - - - - VKGL-NL_Leiden
+/. 1 - c.589G>T r.(?) p.(Val197Phe) - pathogenic (recessive) g.49759916C>A g.49722483C>A NM_021971.2:c.589G>T - GMPPB_000042 - PubMed: Song 2021 - - Germline - - - - - Johan den Dunnen
+/., +?/. 3 - c.656T>C r.(?) p.(Ile219Thr) - likely pathogenic, pathogenic g.49759776A>G g.49722343A>G - - GMPPB_000012 - PubMed: Raphael 2014, Journal: Raphael 2014 - - Germline yes - - - - Johan den Dunnen, Tom Winder
+/., ?/. 2 - c.714G>T r.(?) p.(Gln238His) - pathogenic (recessive), VUS g.49759718C>A g.49722285C>A - - GMPPB_000028 - PubMed: Froukh 2020 - - Germline, Unknown - - - - - Johan den Dunnen, IMGAG
+?/. 1 - c.721C>T r.(?) p.(Pro241Ser) - likely pathogenic g.49759711G>A g.49722278G>A - - GMPPB_000016 - - - - Germline ? - - - - Tom Winder
+?/. 1 - c.760G>A r.(?) p.(Val254Met) - likely pathogenic g.49759672C>T g.49722239C>T - - GMPPB_000014 - - - - Germline ? - - - - Tom Winder
+/., +?/. 3 - c.787G>A r.(?) p.(Gly263Ser) ACMG likely pathogenic, pathogenic (recessive) g.49759562C>T g.49722129C>T NM_021971.2:c.787G>A - GMPPB_000032 - PubMed: Song 2021 - - Germline yes - - - - Johan den Dunnen, Young Jun Ko
+/. 1 - c.790C>T r.(?) p.(Gln264*) - pathogenic g.49759559G>A g.49722126G>A - - GMPPB_000010 - - - - Germline - - - - - Tom Winder
+?/. 1 - c.848G>C r.(?) p.(Gly283Ala) ACMG likely pathogenic g.49759501C>G - - - GMPPB_000044 - - - - Germline - - - - - Martin Krenn
+/. 1 - c.851T>C r.(?) p.(Val284Ala) - pathogenic (recessive) g.49759498A>G g.49722065A>G NM_021971.2:c.851T>C (Val284Leu) - GMPPB_000041 - PubMed: Song 2021 - - Germline - - - - - Johan den Dunnen
+/., +?/. 5 - c.859C>T r.(?) p.(Arg287Trp) - likely pathogenic, likely pathogenic (recessive), pathogenic g.49759490G>A g.49722057G>A - - GMPPB_000013 combination of variants not reported Lazar ASHG2018 P1192, PubMed: Johnson 2018, PubMed: Topf 2020 - rs142908436 Germline - 2/1001 cases - - - Johan den Dunnen, Tom Winder
+/., +?/. 9 - c.860G>A r.(?) p.(Arg287Gln), p.Arg287Gln ACMG likely pathogenic, NA, pathogenic g.49759489C>T g.49722056C>T - - GMPPB_000006 exome sequencing, in vitro expression cloning C2C12 GMPPB cytoplasmic aggregation PubMed: Carss 2013, PubMed: Raphael 2014, Journal: Raphael 2014 - rs202160208 Germline, In vitro (cloned) -, yes - - - - Johan den Dunnen, Tom Winder, Martin Krenn
+/. 1 - c.860G>T r.(?) p.(Arg287Leu) - pathogenic (recessive) g.49759489C>A g.49722056C>A NM_021971.2:c.860G>T - GMPPB_000040 - PubMed: Song 2021 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.863G>A r.(?) p.(Arg288Gln) - 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 - - - - - VKGL-NL_Leiden
+/. 1 - c.877C>T r.(?) p.(Arg293Trp) - pathogenic (recessive) g.49759472G>A g.49722039G>A NM_021971.2:c.877C>T - GMPPB_000039 - PubMed: Song 2021 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.881A>G r.(?) p.(Asp294Gly) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.951+10T>G r.(=) p.(=) - 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 - - - - - VKGL-NL_Leiden
-?/. 1 - c.951+14C>G r.(=) p.(=) - 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 - - - - - VKGL-NL_Leiden
-?/. 1 - c.951+14_951+15del r.(=) p.(=) - 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 - - - - - VKGL-NL_Leiden
-?/. 1 - c.951+15T>G r.(=) p.(=) - likely benign g.49759383A>C - GMPPB(NM_013334.3):c.966T>G (p.A322=) - AMIGO3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.951+19C>G r.(=) p.(=) - likely benign g.49759379G>C g.49721946G>C GMPPB(NM_013334.3):c.970C>G (p.L324V), GMPPB(NM_013334.3):c.970delinsG (p.(Leu324Val)) - AMIGO3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.951+19_951+20del r.(=) p.(=) - likely benign g.49759378_49759379del g.49721945_49721946del GMPPB(NM_013334.3):c.970_971del (p.(Leu324GlyfsTer13)) - AMIGO3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.951+19_951+23dup r.(=) p.(=) - VUS g.49759384_49759388dup - GMPPB(NM_013334.3):c.970_974dupCTGGG (p.G326Wfs*27) - AMIGO3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 2 - c.951+20T>G r.(=) p.(=) - likely benign g.49759378A>C g.49721945A>C GMPPB(NM_013334.3):c.971T>G (p.L324R), GMPPB(NM_013334.3):c.971delinsG (p.(Leu324Arg)) - AMIGO3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.951+24T>G r.(=) p.(=) - likely benign g.49759374A>C g.49721941A>C GMPPB(NM_013334.3):c.975T>G (p.G325=) - AMIGO3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.951+28_951+29insGC r.(=) p.(=) - likely benign g.49759369_49759370insGC g.49721936_49721937insGC GMPPB(NM_013334.3):c.979_980insGC (p.(Glu327GlyfsTer25)) - AMIGO3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., ?/. 2 - c.951+28_951+29insGGC r.(=) p.(=) - likely benign, VUS g.49759369_49759370insGCC g.49721936_49721937insGCC 1 more item - AMIGO3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.951+28_951+29insGGGC r.(=) p.(=) - likely benign g.49759369_49759370insGCCC g.49721936_49721937insGCCC GMPPB(NM_013334.3):c.979_980insGGGC (p.(Glu327GlyfsTer12)) - AMIGO3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.953T>C r.(?) p.(Val318Ala) - likely pathogenic g.49759315A>G g.49721882A>G - - GMPPB_000017 - - - - Germline ? - - - - Tom Winder
+/. 1 - c.955C>A r.(?) p.(Arg319Ser) - pathogenic (recessive) g.49759313G>T g.49721880G>T - - GMPPB_000021 - PubMed: O'Grady 2016 - - Germline yes - - - - Sandra Cooper
+/. 1 - c.966C>A r.(?) p.(Asn322Lys) - pathogenic (recessive) g.49759302G>T g.49721869G>T NM_021971.2:c.966C>A - GMPPB_000038 - PubMed: Song 2021 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.967G>C r.(?) p.(Val323Leu) - likely benign g.49759301C>G g.49721868C>G - - AMIGO3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.972dup r.(?) p.(Val325SerfsTer4) - likely pathogenic g.49759296dup - GMPPB(NM_013334.3):c.1053dupA (p.V352Sfs*4) - AMIGO3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. 5 - c.988G>A -, r.(?) p.(Val330Ile), p.Val330Ile ACMG NA, pathogenic, pathogenic (recessive) g.49759280C>T g.49721847C>T NM_021971.1:c.988G>A (Val330Ile), NM_198722:c.1069G>A - GMPPB_000007 in vitro expression cloning C2C12 GMPPB cytoplasmic aggregation PubMed: Carss 2013, PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - rs199922550 Germline, In vitro (cloned) -, ?, yes - - - - Johan den Dunnen, Tom Winder, Gianina Ravenscroft
+/., +?/. 5 - c.1000G>A -, r.(?) p.(Asp334Asn), p.Asp334Asn ACMG likely pathogenic, NA, pathogenic, pathogenic (recessive) g.49759268C>T g.49721835C>T NM_021971.1:1000G>A (Asp334Asn), NM_198722:c.1081G>A - GMPPB_000005 2 heterozygous, no homozygous; Clinindb (India), exome sequencing; carries 2 MAN1B1 variants, 1 more item PubMed: Carss 2013, PubMed: Narang 2020, Journal: Narang 2020, 1 more item - rs397509422 Germline, In vitro (cloned) -, yes 2/2795 individuals - - - Johan den Dunnen, Gianina Ravenscroft, Mohammed Faruq
+/. 1 - c.1016A>G r.(?) p.(Asn339Ser) - pathogenic (recessive) g.49759252T>C g.49721819T>C NM_021971.2:c.1097A>G (Asn366Ser) - GMPPB_000034 - PubMed: Song 2021 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.1018G>A r.(?) p.(Gly340Arg) - pathogenic (recessive) g.49759250C>T g.49721817C>T NM_021971.2:c.1018G>A - GMPPB_000036 - PubMed: Song 2021 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.1027G>C r.(?) p.(Val343Leu) - VUS g.49759241C>G - GMPPB(NM_013334.3):c.1108G>C (p.V370L) - AMIGO3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 3 - c.1070G>A r.(?) p.(Arg357His) - pathogenic (recessive) g.49759198C>T g.49721765C>T NM_021971.2:c.1070G>A - GMPPB_000035 - PubMed: Song 2021 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.1090T>A r.(?) p.(Tyr364Asn) - pathogenic (recessive) g.49759259A>T g.49721826A>T NM_021971.2:c.1090T>A - GMPPB_000037 - PubMed: Song 2021 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.*7840C>T r.(=) p.(=) - VUS g.49751345G>A - RNF123(NM_022064.4):c.2840G>A (p.R947H) - AMIGO3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*8219G>A r.(=) p.(=) - VUS g.49750966C>T g.49713533C>T RNF123(NM_022064.4):c.2695C>T (p.R899C) - RNF123_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*9231G>A r.(=) p.(=) - VUS g.49749954C>T - RNF123(NM_022064.4):c.2539C>T (p.R847W) - AMIGO3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.*16689C>T r.(=) p.(=) - VUS g.49742496G>A - RNF123(NM_022064.4):c.2039G>A (p.R680Q) - AMIGO3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*22244del r.(?) p.(=) - VUS g.49736941del g.49699508del RNF123(NM_022064.4):c.805delA (p.S269Vfs*18) - RNF123_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*24325C>G r.(=) p.(=) - likely benign g.49734860G>C - RNF123(NM_022064.4):c.312G>C (p.G104=) - AMIGO3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*30315T>C r.(=) p.(=) - likely benign g.49728870A>G - RNF123(NM_022064.4):c.95A>G (p.E32G) - AMIGO3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.*35435T>C r.(=) p.(=) - benign g.49723750A>G g.49686317A>G - - MST1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.*35456_*35458dup r.(=) p.(=) - likely benign g.49723736_49723738dup g.49686303_49686305dup MST1(NM_020998.3):c.1016+17_1016+19dupGGG - AMIGO3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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