All 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.

143 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

Effect     

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     
?/. - 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
+/. - c.64C>T r.(?) p.(Pro22Ser) - pathogenic g.49761096G>A g.49723663G>A - - GMPPB_000001 - PubMed: Carss 2013 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.64C>T r.(?) p.Pro22Ser - 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 - Johan den Dunnen
+/. - c.79G>C r.(?) p.(Asp27His) - pathogenic (recessive) g.49761081C>G g.49723648C>G - - GMPPB_000004 - PubMed: O'Grady 2016 - - Germline yes - - 0 - Sandra Cooper
+/. - c.79G>C r.(?) p.(Asp27His) - pathogenic g.49761081C>G g.49723648C>G - - GMPPB_000004 - PubMed: Carss 2013 - - Germline yes - - 0 - Johan den Dunnen
+?/. - c.79G>C r.(?) p.(Asp27His) - likely pathogenic g.49761081C>G g.49723648C>G - - GMPPB_000004 - - - rs142336618 Germline - - - 0 - Tom Winder
+/. - c.79G>C r.(?) p.(Asp27His) - pathogenic g.49761081C>G g.49723648C>G - - GMPPB_000004 - - - rs142336618 Germline - - - 0 - Tom Winder
+/. - c.79G>C r.(?) p.(Asp27His) - pathogenic g.49761081C>G g.49723648C>G - - GMPPB_000004 - - - rs142336618 Germline - - - 0 - Tom Winder
+/. - c.79G>C r.(?) p.(Asp27His) - pathogenic g.49761081C>G g.49723648C>G - - GMPPB_000004 - - - - Germline ? - - 0 - Tom Winder
+/. - c.79G>C r.(?) p.(Asp27His) - pathogenic g.49761081C>G g.49723648C>G - - GMPPB_000004 - - - - Germline ? - - 0 - Tom Winder
+/. - c.79G>C r.(?) p.(Asp27His) - pathogenic g.49761081C>G g.49723648C>G - - GMPPB_000004 - PubMed: Cabrera-Serrano 2015, Journal: Cabrera-Serrano 2015 - - Germline yes - - 0 - Johan den Dunnen
+?/. - c.79G>C r.(?) p.(Asp27His) - likely pathogenic (recessive) g.49761081C>G g.49723648C>G - - GMPPB_000004 - PubMed: Johnson 2018 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.79G>C r.(?) p.(Asp27His) - likely pathogenic (recessive) g.49761081C>G g.49723648C>G - - GMPPB_000004 - PubMed: Johnson 2018 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.79G>C r.(?) p.(Asp27His) - likely pathogenic (recessive) g.49761081C>G g.49723648C>G - - GMPPB_000004 - PubMed: Johnson 2018 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.79G>C r.(?) p.(Asp27His) - likely pathogenic g.49761081C>G g.49723648C>G - - GMPPB_000004 combination of variants not reported PubMed: Topf 2020 - - Germline - 3/1001 cases - 0 - Johan den Dunnen
?/. - c.79G>C r.(?) p.(Asp27His) - VUS g.49761081C>G - GMPPB(NM_013334.3):c.79G>C (p.D27H) - GMPPB_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.79G>C r.(?) p.(Asp27His) - pathogenic g.49761081C>G - GMPPB(NM_013334.3):c.79G>C (p.D27H) - GMPPB_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.79G>C r.(?) p.Asp27His - NA g.49761081C>G g.49723648C>G - - GMPPB_000004 in vitro expression cloning C2C12 GMPPB normal distribution PubMed: Carss 2013 - - In vitro (cloned) - - - 0 - Johan den Dunnen
+?/. - c.79G>C r.(?) p.(Asp27His) ACMG likely pathogenic g.49761081C>G - - - GMPPB_000004 - - - - Germline - - - 0 - Martin Krenn
+/. - c.79G>C r.(?) p.(Asp27His) ACMG pathogenic g.49761081C>G - - - GMPPB_000004 - - - - Germline - - - 0 - Martin Krenn
+?/. - c.79G>C r.(?) p.(Asp27His) - likely pathogenic g.49761081C>G - GMPPB(NM_013334.3):c.79G>C (p.D27H) - GMPPB_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.94C>T r.(?) p.(Pro32Ser) - likely pathogenic g.49761066G>A g.49723633G>A - - GMPPB_000018 - - - - Germline - - - 0 - Tom Winder
?/. - c.95C>A r.(?) p.(Pro32His) - VUS g.49761065G>T g.49723632G>T - - GMPPB_000008 - - - - Unknown - 0.000077 - 0 - Johan den Dunnen
+/. - c.95C>T r.(?) p.(Pro32Leu) - pathogenic g.49761065G>A g.49723632G>A - - GMPPB_000003 exome sequencing PubMed: Carss 2013 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.95C>T r.(?) p.(Pro32Leu) - pathogenic g.49761065G>A g.49723632G>A - - GMPPB_000003 exome sequencing PubMed: Carss 2013 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.95C>T r.(?) p.(Pro32Leu) - pathogenic g.49761065G>A g.49723632G>A - - GMPPB_000003 - PubMed: Cabrera-Serrano 2015, Journal: Cabrera-Serrano 2015 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.95C>T r.(?) p.(Pro32Leu) ACMG pathogenic (recessive) g.49761065G>A g.49723632G>A NM_198722:c.95C>T - GMPPB_000003 - PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - Germline - - - 0 - Gianina Ravenscroft
+/. - c.95C>T r.(?) p.Pro32Leu - NA g.49761065G>A g.49723632G>A - - GMPPB_000003 in vitro expression cloning C2C12 GMPPB cytoplasmic aggregation PubMed: Carss 2013 - - In vitro (cloned) - - - 0 - Johan den Dunnen
-?/. - 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
?/. - 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
+?/. - c.190del r.(?) p.(Met64*) - likely pathogenic (recessive) g.49760847del g.49723414del - - GMPPB_000030 - PubMed: Johnson 2018 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.190del r.(?) p.(Met64*) - likely pathogenic g.49760847del g.49723414del - - GMPPB_000030 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - 0 - Johan den Dunnen
-?/. - c.211-15del r.(=) p.(=) - likely benign g.49760756del g.49723323del - - AMIGO3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.220C>T r.(?) p.(Arg74*) - pathogenic g.49760726G>A g.49723293G>A - - GMPPB_000009 exome sequencing; carries 2 MAN1B1 variants PubMed: Carss 2013 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.220C>T r.(?) p.(Arg74*) ACMG pathogenic (recessive) g.49760726G>A g.49723293G>A NM_198722:c.220C>T - GMPPB_000009 - PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - Germline - - - 0 - Gianina Ravenscroft
?/. - c.291_294del r.(?) p.(Ser98ArgfsTer13) - VUS g.49760515_49760518del g.49723082_49723085del - - GMPPB_000029 - - - - Unknown - - - 0 - IMGAG
+/. - c.291_294del r.(?) p.(Ser98ArgfsTer13) - pathogenic (recessive) g.49760515_49760518del g.49723082_49723085del - - GMPPB_000029 - PubMed: Froukh 2020 - - Germline - - - 0 - Johan den Dunnen
?/. - 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
-?/. - 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
-?/. - 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 - - - 0 - VKGL-NL_AMC
+/. - 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 - - - 0 - Johan den Dunnen
?/. - 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
+?/. - c.343T>C r.(?) p.(Phe115Leu) ACMG likely pathogenic g.49760464A>G - - - GMPPB_000031 - - - - Germline yes - - 0 - Young Jun Ko
-?/. - 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 - - - 0 - VKGL-NL_AMC
-?/. - 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
+?/. - c.391G>T r.(?) p.(Gly131Cys) ACMG likely pathogenic g.49760416C>A - - - GMPPB_000033 - - - - Germline yes - - 0 - Young Jun Ko
+?/. - c.391G>T r.(?) p.(Gly131Cys) ACMG likely pathogenic g.49760416C>A - - - GMPPB_000033 - - - - Germline yes - - 0 - Young Jun Ko
+/. - c.391G>T r.(?) p.(Gly131Cys) - pathogenic (recessive) g.49760416C>A g.49722983C>A NM_021971.2:c.391G>T - GMPPB_000033 - PubMed: Song 2021 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.395C>G r.(?) p.(Ser132Cys) - likely pathogenic g.49760412G>C g.49722979G>C - - GMPPB_000011 - - - rs145535498 Germline - - - 0 - Tom Winder
+/. - c.402+1G>A r.spl p.? - pathogenic g.49760404C>T g.49722971C>T - - GMPPB_000015 - - - - Germline - - - 0 - Tom Winder
+/. - c.432C>A r.(?) p.(Tyr144*) - pathogenic g.49760158G>T - - - AMIGO3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - 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
?/. - 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
-/. - 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 - - - 0 - VKGL-NL_AMC
+/. - c.553C>T r.(?) p.(Arg185Cys) - pathogenic (recessive) g.49760037G>A g.49722604G>A - - GMPPB_000002 exome sequencing PubMed: Carss 2013 - - Unknown yes - - 0 - Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Cys) - pathogenic g.49760037G>A g.49722604G>A - - GMPPB_000002 - PubMed: Carss 2013 - - Unknown yes - - 0 - Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Cys) - pathogenic g.49760037G>A g.49722604G>A - - GMPPB_000002 exome sequencing PubMed: Carss 2013 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Cys) - pathogenic g.49760037G>A g.49722604G>A - - GMPPB_000002 - - - - Germline - - - 0 - Tom Winder
+/. - c.553C>T r.(?) p.(Arg185Cys) - pathogenic g.49760037G>A g.49722604G>A - - GMPPB_000002 - PubMed: Carss 2013 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Cys) - pathogenic g.49760037G>A g.49722604G>A - - GMPPB_000002 exome sequencing PubMed: Carss 2013 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.553C>T r.(?) p.(Arg185Cys) - pathogenic g.49760037G>A g.49722604G>A - - GMPPB_000002 - - - - Germline - - - 0 - Tom Winder
-?/. - c.553C>T r.(?) p.Arg185Cys - NA g.49760037G>A g.49722604G>A - - GMPPB_000002 in vitro expression cloning C2C12 GMPPB normal distribution PubMed: Carss 2013 - - In vitro (cloned) - - - 0 - Johan den Dunnen
+?/. - c.553C>T r.(?) p.(Arg185Cys) - likely pathogenic g.49760037G>A g.49722604G>A - - GMPPB_000002 - PubMed: Gonzalez-Quereda 2020 - - Germline - - - 0 - Johan den Dunnen
-?/. - 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 - - - 0 - VKGL-NL_AMC
?/. - 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
+/. - 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 - - - 0 - Johan den Dunnen
+?/. - c.656T>C r.(?) p.(Ile219Thr) - likely pathogenic g.49759776A>G g.49722343A>G - - GMPPB_000012 - - - - Germline - - - 0 - Tom Winder
+?/. - c.656T>C r.(?) p.(Ile219Thr) - likely pathogenic g.49759776A>G g.49722343A>G - - GMPPB_000012 - - - - Germline - - - 0 - Tom Winder
+/. - c.656T>C r.(?) p.(Ile219Thr) - pathogenic g.49759776A>G g.49722343A>G - - GMPPB_000012 - PubMed: Raphael 2014, Journal: Raphael 2014 - - Germline yes - - 0 - Johan den Dunnen
?/. - c.714G>T r.(?) p.(Gln238His) - VUS g.49759718C>A g.49722285C>A - - GMPPB_000028 - - - - Unknown - - - 0 - IMGAG
+/. - c.714G>T r.(?) p.(Gln238His) - pathogenic (recessive) g.49759718C>A g.49722285C>A - - GMPPB_000028 - PubMed: Froukh 2020 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.721C>T r.(?) p.(Pro241Ser) - likely pathogenic g.49759711G>A g.49722278G>A - - GMPPB_000016 - - - - Germline ? - - 0 - Tom Winder
+?/. - c.760G>A r.(?) p.(Val254Met) - likely pathogenic g.49759672C>T g.49722239C>T - - GMPPB_000014 - - - - Germline ? - - 0 - Tom Winder
+?/. - c.787G>A r.(?) p.(Gly263Ser) ACMG likely pathogenic g.49759562C>T - - - GMPPB_000032 - - - - Germline yes - - 0 - Young Jun Ko
+?/. - c.787G>A r.(?) p.(Gly263Ser) ACMG likely pathogenic g.49759562C>T - - - GMPPB_000032 - - - - Germline yes - - 0 - Young Jun Ko
+/. - c.787G>A r.(?) p.(Gly263Ser) - pathogenic (recessive) g.49759562C>T g.49722129C>T NM_021971.2:c.787G>A - GMPPB_000032 - PubMed: Song 2021 - - Germline - - - 0 - Johan den Dunnen
+/. - c.790C>T r.(?) p.(Gln264*) - pathogenic g.49759559G>A g.49722126G>A - - GMPPB_000010 - - - - Germline - - - 0 - Tom Winder
+?/. - c.848G>C r.(?) p.(Gly283Ala) ACMG likely pathogenic g.49759501C>G - - - GMPPB_000044 - - - - Germline - - - 0 - Martin Krenn
+/. - 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 - - - 0 - Johan den Dunnen
+?/. - c.859C>T r.(?) p.(Arg287Trp) - likely pathogenic g.49759490G>A g.49722057G>A - - GMPPB_000013 - - - rs142908436 Germline - - - 0 - Tom Winder
+/. - c.859C>T r.(?) p.(Arg287Trp) - pathogenic g.49759490G>A g.49722057G>A - - GMPPB_000013 - Lazar ASHG2018 P1192 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.859C>T r.(?) p.(Arg287Trp) - likely pathogenic (recessive) g.49759490G>A g.49722057G>A - - GMPPB_000013 - PubMed: Johnson 2018 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.859C>T r.(?) p.(Arg287Trp) - likely pathogenic (recessive) g.49759490G>A g.49722057G>A - - GMPPB_000013 - PubMed: Johnson 2018 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.859C>T r.(?) p.(Arg287Trp) - likely pathogenic g.49759490G>A g.49722057G>A - - GMPPB_000013 combination of variants not reported PubMed: Topf 2020 - - Germline - 2/1001 cases - 0 - Johan den Dunnen
+/. - c.860G>A r.(?) p.(Arg287Gln) - pathogenic g.49759489C>T g.49722056C>T - - GMPPB_000006 exome sequencing PubMed: Carss 2013 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.860G>A r.(?) p.(Arg287Gln) - pathogenic g.49759489C>T g.49722056C>T - - GMPPB_000006 exome sequencing PubMed: Carss 2013 - - Germline yes - - 0 - Johan den Dunnen
+?/. - c.860G>A r.(?) p.(Arg287Gln) - likely pathogenic g.49759489C>T g.49722056C>T - - GMPPB_000006 - - - rs202160208 Germline - - - 0 - Tom Winder
+/. - c.860G>A r.(?) p.(Arg287Gln) - pathogenic g.49759489C>T g.49722056C>T - - GMPPB_000006 - - - - Germline - - - 0 - Tom Winder
+/. - c.860G>A r.(?) p.(Arg287Gln) - pathogenic g.49759489C>T g.49722056C>T - - GMPPB_000006 - - - - Germline - - - 0 - Tom Winder
+/. - c.860G>A r.(?) p.(Arg287Gln) - pathogenic g.49759489C>T g.49722056C>T - - GMPPB_000006 - - - - Germline - - - 0 - Tom Winder
+/. - c.860G>A r.(?) p.(Arg287Gln) - pathogenic g.49759489C>T g.49722056C>T - - GMPPB_000006 - PubMed: Raphael 2014, Journal: Raphael 2014 - rs202160208 Germline yes - - 0 - Johan den Dunnen
+/. - c.860G>A r.(?) p.Arg287Gln - NA g.49759489C>T g.49722056C>T - - GMPPB_000006 in vitro expression cloning C2C12 GMPPB cytoplasmic aggregation PubMed: Carss 2013 - - In vitro (cloned) - - - 0 - Johan den Dunnen
+?/. - c.860G>A r.(?) p.(Arg287Gln) ACMG likely pathogenic g.49759489C>T - - - GMPPB_000006 - - - - Germline - - - 0 - Martin Krenn
+/. - 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 - - - 0 - Johan den Dunnen
-?/. - 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 - - - 0 - VKGL-NL_Leiden
+/. - 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 - - - 0 - Johan den Dunnen
-?/. - 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
-?/. - 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
-?/. - 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
-?/. - 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
Legend   How to query   « First ‹ Prev     1 2     Next › Last »