Full data view for gene PCCB

Information The variants shown are described using the NM_000532.4 transcript reference sequence.

377 entries on 4 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.-140C>G r.(?) p.(=) Parent #1 - pathogenic g.135969078C>G g.136250236C>G 10140C>G - PCCB_000084 - PubMed: Kraus 2012 - - Germline - - - - - DNA SEQ - - acidemia, propionic ? PubMed: Kraus 2012 - - - - Albania, Turkey - - - - 1 Johan den Dunnen
+/. 1_3i c.-51-?_372+?del r.0? p.0? Parent #1 - pathogenic g.135969167_135975465del g.136250325_136256623del - - PCCB_000083 Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Kraus 2012 - - Germline - - - - - DNA SEQ - - acidemia, propionic ? PubMed: Kraus 2012 - - - Austria - - - - - 1 Johan den Dunnen
+/. 1 c.31_40del r.31_40del p.Gly11Serfs*51 Parent #2 - pathogenic g.135969248_135969257del g.136250406_136250415del - - PCCB_000044 - PubMed: Kim 2002 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 12409268-Pat1 PubMed: Kim 2002 - - - Korea - - - - - 1 Johan den Dunnen
?/. 1 c.49C>A r.(?) p.(Leu17Met) Parent #1 - VUS g.135969266C>A g.136250424C>A - - PCCB_000036 - PubMed: Muro 1999 - - Germline - - - - - DNA SEQ - - acidemia, propionic 10447268-AML PubMed: Muro 1999 - - - Spain - - - - - 1 Johan den Dunnen
-?/. - c.49C>A r.(?) p.(Leu17Met) Unknown - likely benign g.135969266C>A g.136250424C>A PCCB(NM_001178014.1):c.49C>A (p.L17M) - PCCB_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.49C>A r.(?) p.(Leu17Met) Unknown - likely benign g.135969266C>A g.136250424C>A PCCB(NM_001178014.1):c.49C>A (p.L17M) - PCCB_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.76dup r.(?) p.(Arg26Profs*11) Parent #1 - pathogenic g.135969293dup g.136250451dup R26fs - PCCB_000089 - PubMed: Kraus 2012 - - Germline - - - - - DNA SEQ - - acidemia, propionic ? PubMed: Kraus 2012 - - - Germany - - - - - 1 Johan den Dunnen
-?/. - c.82C>G r.(?) p.(Leu28Val) Unknown - likely benign g.135969299C>G - PCCB(NM_000532.5):c.82C>G (p.L28V), PCCB(NM_001178014.1):c.82C>G (p.L28V) - STAG1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.82C>G r.(?) p.(Leu28Val) Unknown - likely benign g.135969299C>G - PCCB(NM_000532.5):c.82C>G (p.L28V), PCCB(NM_001178014.1):c.82C>G (p.L28V) - STAG1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.108C>A r.(?) p.(Asn36Lys) Unknown - VUS g.135969325C>A - PCCB(NM_000532.5):c.108C>A (p.(Asn36Lys)) - STAG1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.131G>C r.131g>c p.Arg44Pro Parent #2 - pathogenic g.135969348G>C g.136250506G>C R44P - PCCB_000024 - PubMed: Rodriguez-Pombo 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 09683601-AJA PubMed: Rodriguez-Pombo 1998 - - - Spain - - - - - 1 Johan den Dunnen
?/. - c.146G>C r.(?) p.(Gly49Ala) Unknown - VUS g.135969363G>C g.136250521G>C PCCB(NM_000532.4):c.146G>C (p.(Gly49Ala)) - STAG1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.155_183+17del r.spl p.? Parent #1 - pathogenic g.135969372_135969417del g.136250530_136250575del 154-183+17del46 - PCCB_000060 - PubMed: Desviat 2006 - - Germline - - - - - DNA SEQ - - acidemia, propionic 17051315-? PubMed: Desviat 2006 - - - United States - - - - - 1 Johan den Dunnen
+/. 1 c.155_183+17del r.spl p.? Parent #1 - pathogenic g.135969372_135969417del g.136250530_136250575del 154-183+17del46 - PCCB_000060 - PubMed: Kraus 2012 - - Germline - - - - - DNA SEQ - - acidemia, propionic ? PubMed: Kraus 2012 - - - - - - - - - 1 Johan den Dunnen
+/. - c.155_183+17del r.spl? p.? Unknown - pathogenic g.135969372_135969417del g.136250530_136250575del 135969366_135969411del - PCCB_000060 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
?/. - c.158G>A r.(?) p.(Arg53His) Unknown - VUS g.135969375G>A g.136250533G>A PCCB(NM_000532.4):c.158G>A (p.(Arg53His)) - PCCB_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.165T>C r.(?) p.(Ile55=) Unknown - likely benign g.135969382T>C g.136250540T>C PCCB(NM_001178014.1):c.165T>C (p.I55=) - STAG1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.167_179delinsC r.(?) p.(Asp56_Lys60delinsAla) Parent #1 - pathogenic g.135969384_135969396delinsC g.136250542_136250554delinsC - - PCCB_000067 - PubMed: Hu 2008 - - Germline - - - - - DNA SEQ - - acidemia, propionic ? PubMed: Hu 2008 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.173A>C r.(?) p.(Gln58Pro) Unknown - likely pathogenic g.135969390A>C g.136250548A>C - - STAG1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.183+2T>C r.183_184ins[gc;183+3_183+20] p.fs* Parent #1 - pathogenic g.135969402T>C g.136250560T>C IVS1+2T>C - PCCB_000061 - PubMed: Desviat 2006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 17051315-? PubMed: Desviat 2006 - - - - Kurd - - - - 1 Johan den Dunnen
+/. 1i c.183+2T>C r.183_184ins[gc;183+3_183+20] p.fs* Parent #1 - pathogenic g.135969402T>C g.136250560T>C IVS1+2T>C - PCCB_000061 - Perez 2005 JIMD 28 S1 p80 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic ? Perez 2005 JIMD 28 S1 p80 - - - - Kurd - - - - 1 Johan den Dunnen
+/. 1i c.183+3G>C r.(spl?) p.0? Parent #2 - pathogenic g.135969403G>C g.136250561G>C IVS1+3G>C - PCCB_000030 - PubMed: Rodriguez-Pombo 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 09683601-MBG PubMed: Rodriguez-Pombo 1998 - - - Spain - - - - - 1 Johan den Dunnen
+/. 1i c.183+3G>C r.(spl?) p.0? Parent #1 - pathogenic g.135969403G>C g.136250561G>C IVS1+3G>C - PCCB_000030 - PubMed: Kraus 2012 - - Germline - - - - - DNA SEQ - - acidemia, propionic ? PubMed: Kraus 2012 - - - Spain - - - - - 1 Johan den Dunnen
-?/. - c.183+17C>T r.(=) p.(=) Unknown - likely benign g.135969417C>T g.136250575C>T PCCB(NM_001178014.2):c.183+17C>T - STAG1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.201G>Y r.201g>y p.Arg67Ser Parent #2 - pathogenic g.135974715G>Y g.136255873G>Y R67S - PCCB_000035 - PubMed: Muro 2001 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 11749052-ASF PubMed: Muro 2001 - - - Spain - - - - - 1 Johan den Dunnen
?/. - c.250A>G r.(?) p.(Met84Val) Unknown - VUS g.135974764A>G g.136255922A>G - - STAG1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.262C>A r.(?) p.(His88Asn) Unknown - VUS g.135974776C>A g.136255934C>A PCCB(NM_000532.4):c.262C>A (p.(His88Asn)) - STAG1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.269G>A r.(?) p.(Cys90Tyr) Unknown - VUS g.135974783G>A g.136255941G>A PCCB(NM_001178014.1):c.269G>A (p.C90Y) - PCCB_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.293A>G r.(?) p.(Asp98Gly) Unknown - VUS g.135974807A>G - PCCB(NM_000532.5):c.293A>G (p.(Asp98Gly)) - STAG1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.303+8T>A r.(=) p.(=) Unknown - likely benign g.135974825T>A g.136255983T>A PCCB(NM_001178014.1):c.303+8T>A - STAG1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.318C>A r.318c>a p.Ser106Arg Parent #2 - pathogenic g.135975411C>A g.136256569C>A S106R - PCCB_000029 - PubMed: Rodriguez-Pombo 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 09683601-CJF PubMed: Rodriguez-Pombo 1998 - - - Spain - - - - - 1 Johan den Dunnen
+/. 3 c.319G>A r.319g>a p.Val107Met Parent #1 - pathogenic g.135975412G>A g.136256570G>A V107M - PCCB_000052 - PubMed: Perez 2003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 12559849-15814 PubMed: Perez 2003 - - - Croatia (Hrvatska) - - - - - 1 Johan den Dunnen
+/. 3 c.319G>A r.319g>a p.Val107Met Parent #2 - pathogenic g.135975412G>A g.136256570G>A V107M - PCCB_000052 - PubMed: Perez 2003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 12559849-15814 PubMed: Perez 2003 - - - Croatia (Hrvatska) - - - - - 1 Johan den Dunnen
+/. 3 c.319G>A r.319g>a p.Val107Met Parent #1 - pathogenic g.135975412G>A g.136256570G>A V107M - PCCB_000052 - PubMed: Perez 2003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 12559849-15815 PubMed: Perez 2003 - - - Croatia (Hrvatska) - - - - - 1 Johan den Dunnen
+/. 3 c.319G>A r.319g>a p.Val107Met Parent #2 - pathogenic g.135975412G>A g.136256570G>A V107M - PCCB_000052 - PubMed: Perez 2003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 12559849-15815 PubMed: Perez 2003 - - - Croatia (Hrvatska) - - - - - 1 Johan den Dunnen
+?/. 3 c.331C>T r.(?) p.(Arg111*) Parent #1 - likely pathogenic g.135975424C>T g.136256582C>T - - PCCB_000001 - - - - Germline - - - - - DNA SEQ - - acidemia, propionic p1 - - - - - - - - - - 1 Lourdes R. Desviat
+?/. - c.332G>T r.(?) p.(Arg111Leu) Unknown ACMG likely pathogenic g.135975425G>T - - - PCCB_000118 - - - - Unknown - - - - - DNA SEQ-NG - - SIDS SIDS016 - - M - Switzerland Europe 00y08m - - - 1 Cordula Haas
+/. 3 c.335G>A r.335g>a p.Gly112Asp Parent #1 - pathogenic g.135975428G>A g.136256586G>A G112D - PCCB_000050 - PubMed: Perez 2003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 12559849-16485 PubMed: Perez 2003 - - - Italy - - - - - 1 Johan den Dunnen
+/. 3 c.335G>A r.335g>a p.Gly112Asp Parent #1 - pathogenic g.135975428G>A g.136256586G>A G112D - PCCB_000050 - PubMed: Perez 2003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 12559849-14763 PubMed: Perez 2003 - - - United States - - - - - 1 Johan den Dunnen
+/. 3 c.335G>A r.(?) p.(G112D) Parent #1 - pathogenic g.135975428G>A g.136256586G>A - - PCCB_000050 - Abs Rodriguez-Pombo 2000, JIMD - - Germline - - - - - DNA SEQ - - acidemia, propionic ? Abs Rodriguez-Pombo 2000, JIMD - - - - - - - - - 1 Johan den Dunnen
+/. 3 c.337C>T r.(?) p.(Arg113*) Parent #1 - pathogenic g.135975430C>T g.136256588C>T - - PCCB_000063 - PubMed: Brosch 2008 - - Germline - - - - - DNA SEQ - - acidemia, propionic ? PubMed: Brosch 2008 - - - - - - - - - 1 Johan den Dunnen
+/. 3 c.337C>T r.(?) p.(Arg113*) Parent #1 - pathogenic g.135975430C>T g.136256588C>T R113X - PCCB_000063 - PubMed: Kraus 2012 - - Germline - - - - - DNA SEQ - - acidemia, propionic ? PubMed: Kraus 2012 - - - - Austria, Germany - - - - 1 Johan den Dunnen
+/. 3 c.337C>T r.(?) p.(Arg113*) Parent #1 - pathogenic g.135975430C>T g.136256588C>T R113X - PCCB_000063 - Ozgul 2010 JIMD 33 S1 p45 - - Germline - - - - - DNA SEQ - - acidemia, propionic ? Ozgul 2010 JIMD 33 S1 p45 - - - Turkey - - - - - 1 Johan den Dunnen
?/. - c.338G>A r.(?) p.(Arg113Gln) Unknown - VUS g.135975431G>A - PCCB(NM_001178014.1):c.338G>A (p.R113Q) - STAG1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.338G>A r.(?) p.(Arg113Gln) Unknown - VUS g.135975431G>A - PCCB(NM_001178014.1):c.338G>A (p.R113Q) - STAG1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.359_360del r.(?) p.(Tyr120Cysfs*40) Paternal (confirmed) - pathogenic (recessive) g.135975452_135975453del g.136256610_136256611del 359_360delAT - PCCB_000115 - - - - Germline - - - - - DNA SEQ Perpheral Blood - acidemia, propionic - - - - - China - - - - - 1 Yangqi
?/. - c.373-1293G>T r.(=) p.(=) Unknown - VUS g.135978028G>T - PCCB(NM_001178014.1):c.383G>T (p.G128V) - STAG1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.373-1292C>T r.(=) p.(=) Unknown - benign g.135978029C>T g.136259187C>T PCCB(NM_001178014.2):c.384C>T (p.G128=) - STAG1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.373-1229T>C r.(=) p.(=) Unknown - likely benign g.135978092T>C - PCCB(NM_001178014.1):c.432+15T>C - STAG1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.391G>C r.391c>u p.Gly131Arg Parent #2 - pathogenic g.135979339G>C g.136260497G>C G131R - PCCB_000027 - PubMed: Rodriguez-Pombo 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 09683601-PVD PubMed: Rodriguez-Pombo 1998 - - - Spain - - - - - 1 Johan den Dunnen
+?/. 4 c.415C>T r.(?) p.(Gln139*) Parent #2 - likely pathogenic g.135979363C>T g.136260521C>T - - PCCB_000002 - - - - Germline - - - - - DNA SEQ - - acidemia, propionic p1 - - - - - - - - - - 1 Lourdes R. Desviat
+/. 4 c.418_429dup r.418_429dup p.Lys140_Ile141insLysIleCysLys Parent #1 - pathogenic g.135979366_135979377dup g.136260524_136260535dup 419AAAAGATCTGCAdup - PCCB_000016 - PubMed: Gravel 1994 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - acidemia, propionic 08023851-445 PubMed: Gravel 1994 - - - United States - - - - - 1 Johan den Dunnen
+/. 4i c.429+3_429+6del r.373_429del p.Asp125_Lys143del Parent #2 - pathogenic g.135979380_135979383del g.136260538_136260541del - - PCCB_000012 - PubMed: Ohura 1993, PubMed: Ohura 1995 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 08295402-187 PubMed: Ohura 1993 - - - Japan - - - - - 1 Johan den Dunnen
+/. 4i c.429+3_429+6del r.373_429del p.Asp125_Lys143del Parent #2 - pathogenic g.135979380_135979383del g.136260538_136260541del IVS4+3del4 - PCCB_000013 - PubMed: Ohura 1995 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 07789958-Pat187 PubMed: Ohura 1995 - - - Japan - - - - - 1 Johan den Dunnen
+/. 4i c.429+3_429+6del r.373_429del p.Asp125_Lys143del Parent #2 - pathogenic g.135979380_135979383del g.136260538_136260541del IVS4+3del4 - PCCB_000013 - PubMed: Perez 2003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 12559849-14935 PubMed: Perez 2003 - - - United States - - - - - 1 Johan den Dunnen
+/. 4i c.429+3_429+6del r.373_429del p.Asp125_Lys143del Parent #1 - pathogenic g.135979380_135979383del g.136260538_136260541del IVS4+3del4 - PCCB_000013 - PubMed: Kraus 2012 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic ? PubMed: Kraus 2012 - - - - Japan, USA - - - - 1 Johan den Dunnen
+/. 4i c.429+3_429+6del r.373_429del p.del Parent #1 - pathogenic g.135979380_135979383del g.136260538_136260541del IVS4+3del4 - PCCB_000013 - Rodriguez-Pombo 2000 JIMD 23 p92 - - Germline - - - - - DNA SEQ - - acidemia, propionic ? Rodriguez-Pombo 2000 JIMD 23 p92 - - - - Japan, USA - - - - 1 Johan den Dunnen
-?/. - c.429+7G>A r.(=) p.(=) Unknown - likely benign g.135979384G>A - - - STAG1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4i c.430-121C>T r.(?) p.(=) Parent #1 - VUS g.135980673C>T g.136261831C>T - - PCCB_000081 - PubMed: Kraus 2012 - - Germline - - - - - DNA SEQ - - acidemia, propionic ? PubMed: Kraus 2012 - - - - Afghanistan, Turkey, Lebanon, Germany, Kosovo, Albania - - - - 1 Johan den Dunnen
?/. - c.430A>G r.(?) p.(Ile144Val) Unknown - VUS g.135980794A>G g.136261952A>G PCCB(NM_001178014.2):c.490A>G (p.I164V) - PCCB_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.457G>C r.(?) p.(Ala153Pro) Parent #1 - pathogenic g.135980821G>C g.136261979G>C A153P - PCCB_000058 - PubMed: Yang 2004 - - Germline - - - - - DNA SEQ - - acidemia, propionic 15059621-? PubMed: Yang 2004 - - - Japan - - - - - 1 Johan den Dunnen
+/. 5 c.483dup r.(?) p.(Gly162Trpfs*68) Parent #1 - pathogenic g.135980847dup g.136262005dup - - PCCB_000082 - PubMed: Kraus 2012 - - Germline - - - - - DNA SEQ - - acidemia, propionic ? PubMed: Kraus 2012 - - - Germany - - - - - 1 Johan den Dunnen
+/. 5 c.484G>A r.(?) p.(Gly162Arg) Parent #1 - pathogenic g.135980848G>A g.136262006G>A G162R - PCCB_000068 - PubMed: Hu 2008 - - Germline - - - - - DNA SEQ - - acidemia, propionic ? PubMed: Hu 2008 - - - China - - - - - 1 Johan den Dunnen
+?/. 5 c.493C>T r.493c>u p.(Arg165Trp) Parent #2 - likely pathogenic g.135980857C>T g.136262015C>T - - PCCB_000011 - PubMed: Ohura 1993 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 08295402-276 PubMed: Ohura 1993 - - - Japan - - - - - 1 Johan den Dunnen
+/. 5 c.493C>T r.493c>u p.Arg165Trp Parent #2 - pathogenic g.135980857C>T g.136262015C>T R165W - PCCB_000011 - PubMed: Rodriguez-Pombo 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 09683601-PPM PubMed: Rodriguez-Pombo 1998 - - - Ecuador - - - - - 1 Johan den Dunnen
+/. 5 c.493C>T r.(?) p.(Arg165Trp) Parent #1 - pathogenic g.135980857C>T g.136262015C>T R165W - PCCB_000011 - PubMed: Yang 2004 - - Germline - - - - - DNA SEQ - - acidemia, propionic 15059621-? PubMed: Yang 2004 - - - - Ecuador, Japan - - - - 1 Johan den Dunnen
+/. 5 c.493C>T r.(?) p.(Arg165Trp) Parent #1 - pathogenic g.135980857C>T g.136262015C>T R165W - PCCB_000011 - PubMed: Perez 2010 - - Germline - - - - - DNA SEQ - - acidemia, propionic ? PubMed: Perez 2010 - - - - Ecuador, Japan - - - - 1 Johan den Dunnen
+/. - c.493C>T r.(?) p.(Arg165Trp) Unknown - pathogenic g.135980857C>T g.136262015C>T PCCB(NM_000532.4):c.493C>T (p.(Arg165Trp)) - PCCB_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.494G>A r.494g>a p.Arg165Gln Parent #2 - VUS g.135980858G>A g.136262016G>A R165Q - PCCB_000023 - PubMed: Muro 2001 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 09683601-CTG PubMed: Muro 2001, PubMed: Perez 2003 - - - Spain - - - - - 1 Johan den Dunnen
+/. 5 c.494G>A r.494g>a p.Arg165Gln Parent #2 - pathogenic g.135980858G>A g.136262016G>A R165Q - PCCB_000023 - PubMed: Muro 2001 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 09683601-VMP PubMed: Rodriguez-Pombo 1998 - - - Spain - - - - - 1 Johan den Dunnen
+/. 5 c.494G>A r.494g>a p.Arg165Gln Parent #1 - pathogenic g.135980858G>A g.136262016G>A R165Q - PCCB_000023 - PubMed: Muro 2001 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 11749052-ASF PubMed: Muro 2001 - - - Spain - - - - - 1 Johan den Dunnen
+/. 5 c.494G>A r.494g>a p.Arg165Gln Parent #1 - pathogenic g.135980858G>A g.136262016G>A R165Q - PCCB_000023 - PubMed: Perez 2003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 12559849-17094 PubMed: Perez 2003 - - - Spain - - - - - 1 Johan den Dunnen
+/. 5 c.494G>A r.494g>a p.Arg165Gln Parent #2 - pathogenic g.135980858G>A g.136262016G>A R165Q - PCCB_000023 - PubMed: Perez 2003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 12559849-17094 PubMed: Perez 2003 - - - Spain - - - - - 1 Johan den Dunnen
+/. 5 c.494G>A r.(?) p.(Arg165Gln) Parent #1 - pathogenic g.135980858G>A g.136262016G>A R165Q - PCCB_000023 - PubMed: Perez 2010 - - Germline - - - - - DNA SEQ - - acidemia, propionic ? PubMed: Perez 2010 - - - Spain - - - - - 1 Johan den Dunnen
+/. 5 c.502G>A r.502g>a p.Glu168Lys Parent #1 - pathogenic g.135980866G>A g.136262024G>A E168K - PCCB_000019 - PubMed: Rodriguez-Pombo 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 09683601-PRG PubMed: Rodriguez-Pombo 1998 - - - Spain - - - - - 1 Johan den Dunnen
+/. 5 c.502G>A r.502g>a p.Glu168Lys Parent #2 - pathogenic g.135980866G>A g.136262024G>A E168K - PCCB_000019 - PubMed: Rodriguez-Pombo 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 09683601-PRG PubMed: Rodriguez-Pombo 1998 - - - Spain - - - - - 1 Johan den Dunnen
+/. 5 c.502G>A r.502g>a p.Glu168Lys Parent #1 - pathogenic g.135980866G>A g.136262024G>A E168K - PCCB_000019 - PubMed: Rodriguez-Pombo 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 09683601-NGA PubMed: Rodriguez-Pombo 1998 - - - Chile - - - - - 1 Johan den Dunnen
+/. 5 c.502G>A r.502g>a p.Glu168Lys Parent #2 - pathogenic g.135980866G>A g.136262024G>A E168K - PCCB_000019 - PubMed: Rodriguez-Pombo 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 09683601-NGA PubMed: Rodriguez-Pombo 1998 - - - Chile - - - - - 1 Johan den Dunnen
+/. 5 c.502G>A r.502g>a p.Glu168Lys Parent #2 - pathogenic g.135980866G>A g.136262024G>A E168K - PCCB_000019 - PubMed: Rodriguez-Pombo 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 09683601-LGA PubMed: Rodriguez-Pombo 1998 - - - Spain - - - - - 1 Johan den Dunnen
+/. 5 c.502G>A r.502g>a p.Glu168Lys Parent #2 - pathogenic g.135980866G>A g.136262024G>A E168K - PCCB_000019 - PubMed: Rodriguez-Pombo 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 09683601-JGG PubMed: Rodriguez-Pombo 1998 - - - Spain - - - - - 1 Johan den Dunnen
+/. 5 c.502G>A r.502g>a p.Glu168Lys Parent #2 - pathogenic g.135980866G>A g.136262024G>A E168K - PCCB_000019 - PubMed: Rodriguez-Pombo 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 09683601-FM PubMed: Rodriguez-Pombo 1998 - - - Chile - - - - - 1 Johan den Dunnen
+/. 5 c.502G>A r.502g>a p.Glu168Lys Parent #2 - pathogenic g.135980866G>A g.136262024G>A E168K - PCCB_000019 - PubMed: Rodriguez-Pombo 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 09683601-DMS PubMed: Rodriguez-Pombo 1998 - - - Spain - - - - - 1 Johan den Dunnen
+/. 5 c.502G>A r.502g>a p.Glu168Lys Parent #2 - pathogenic g.135980866G>A g.136262024G>A E168K - PCCB_000019 - PubMed: Rodriguez-Pombo 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 09683601-HMM PubMed: Rodriguez-Pombo 1998 - - - Chile - - - - - 1 Johan den Dunnen
+/. 5 c.502G>A r.502g>a p.Glu168Lys Parent #1 - pathogenic g.135980866G>A g.136262024G>A E168K - PCCB_000019 - PubMed: Rodriguez-Pombo 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 09683601-MBG PubMed: Rodriguez-Pombo 1998 - - - Spain - - - - - 1 Johan den Dunnen
+/. 5 c.502G>A r.502g>a p.(Glu168Lys) Parent #2 - pathogenic g.135980866G>A g.136262024G>A - - PCCB_000019 - PubMed: Muro 1999 - - Germline - - - - - DNA SEQ - - acidemia, propionic 10447268-AML PubMed: Muro 1999 - - - Spain - - - - - 1 Johan den Dunnen
+/. 5 c.502G>A r.502g>a p.Glu168Lys Parent #2 - pathogenic g.135980866G>A g.136262024G>A E168K - PCCB_000019 - PubMed: Perez 2003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 12559849-16787 PubMed: Perez 2003 - - - Spain Basque - - - - 1 Johan den Dunnen
+/. 5 c.502G>A r.(?) p.(Glu168Lys) Parent #1 - pathogenic g.135980866G>A g.136262024G>A E168K - PCCB_000019 - PubMed: Perez 2010 - - Germline - - - - - DNA SEQ - - acidemia, propionic ? PubMed: Perez 2010 - - - - Chile, Spain - - - - 1 Johan den Dunnen
+?/. - c.502G>A r.(?) p.(Glu168Lys) Unknown - likely pathogenic g.135980866G>A - PCCB(NM_001178014.2):c.562G>A (p.E188K) - PCCB_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.532G>C r.(?) p.(Asp178His) Parent #1 - pathogenic g.135980896G>C g.136262054G>C D178H - PCCB_000097 - Heptinstall 1998 JIMD 21 S2 p79 - - Germline - - - - - DNA SEQ - - acidemia, propionic ? Heptinstall 1998 JIMD 21 S2 p79 - - - - Chile, Spain - - - - 1 Johan den Dunnen
+/. 5 c.532G>C r.(?) p.(D178H) Parent #1 - pathogenic g.135980896G>C g.136262054G>C - - PCCB_000097 - LSDB Heptinstall 1998 - - Germline - - - - - DNA SEQ - - acidemia, propionic ? LSDB Heptinstall 1998 - - - - - - - - - 1 Johan den Dunnen
+/. 5i c.543+1G>A r.430_543del p.del Parent #1 - pathogenic g.135980908G>A g.136262066G>A IVS5nt1G>A - PCCB_000056 - PubMed: Perez 2003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 12559849-15513 PubMed: Perez 2003 - - - United States Arab - - - - 1 Johan den Dunnen
+/. 5i c.543+1G>A r.430_543del p.del Parent #2 - pathogenic g.135980908G>A g.136262066G>A IVS5nt1G>A - PCCB_000056 - PubMed: Perez 2003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 12559849-15513 PubMed: Perez 2003 - - - United States Arab - - - - 1 Johan den Dunnen
-?/. - c.544-5G>C r.spl? p.? Unknown - likely benign g.136002674G>C - PCCB(NM_000532.5):c.544-5G>C - STAG1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.546G>A r.(?) p.(Arg182=) Unknown - benign g.136002681G>A g.136283839G>A PCCB(NM_000532.5):c.546G>A (p.R182=), PCCB(NM_001178014.2):c.606G>A (p.R202=) - STAG1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.546G>A r.(?) p.(Arg182=) Unknown - likely benign g.136002681G>A - PCCB(NM_000532.5):c.546G>A (p.R182=), PCCB(NM_001178014.2):c.606G>A (p.R202=) - STAG1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.560_561delinsA r.(?) p.fs* Parent #1 - pathogenic g.136002695_136002696delinsA g.136283853_136283854delinsA 560_561delCCinsA - PCCB_000069 - PubMed: Hu 2008 - - Germline - - - - - DNA SEQ - - acidemia, propionic ? PubMed: Hu 2008 - - - - - - - - - 1 Johan den Dunnen
+/. 6 c.560_561delinsT r.(?) p.(Ser187Leufs*9) Parent #1 - pathogenic g.136002695_136002696delinsT g.136283853_136283854delinsT - - PCCB_000070 - PubMed: Hu 2008 - - Germline - - - - - DNA SEQ - - acidemia, propionic ? PubMed: Hu 2008 - - - China - - - - - 1 Johan den Dunnen
+/. 6 c.562G>A r.562g>a p.Gly188Arg Parent #2 - pathogenic g.136002697G>A g.136283855G>A G188R - PCCB_000051 - PubMed: Perez 2003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 12559849-16485 PubMed: Perez 2003 - - - Italy - - - - - 1 Johan den Dunnen
+/. 6 c.562G>A r.562g>a p.Gly188Arg Parent #1 - pathogenic g.136002697G>A g.136283855G>A G188R - PCCB_000051 - PubMed: Perez 2003 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - acidemia, propionic 12559849-16187 PubMed: Perez 2003 - - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.562G>A r.(?) p.(Gly188Arg) Parent #1 - pathogenic g.136002697G>A g.136283855G>A G188R - PCCB_000051 - PubMed: Desviat 2006 - - Germline - - - - - DNA SEQ - - acidemia, propionic 17051315-? PubMed: Desviat 2006 - - - United States - - - - - 1 Johan den Dunnen
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