Full data view for gene HMGCL

Information The variants shown are described using the NM_000191.2 transcript reference sequence.

203 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     
+/. - c.? r.61_144del p.Val21_Lys48del Parent #2 - pathogenic (recessive) g.? - r.61-144del - NPHS2_000000 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - HMGCLD Pat1 PubMed: Grunert 2017 - F - Germany - - - - - 1 Johan den Dunnen
+/. - c.27del r.(?) p.(Arg10Glyfs*24) Paternal (confirmed) - pathogenic (recessive) g.24151879del g.23825389del 27delG - HMGCL_000033 - PubMed: Pospisilova 2003 - - Germline - - - - - DNA SEQ - - HMGCLD Pat2 PubMed: Pospisilova 2003 - F - Czech Republic - - - - - 1 Johan den Dunnen
+/. - c.27del r.(?) p.(Arg10GlyfsTer24) Parent #1 - pathogenic (recessive) g.24151879del g.23825389del c.27_27delG - HMGCL_000033 - PubMed: Grunert 2017 - - Germline - - - - - DNA SEQ - - HMGCLD Pat5 PubMed: Grunert 2017 - M - Russia - - - - - 1 Johan den Dunnen
+/. - c.31C>T r.(?) p.(Arg11*) Paternal (inferred) - pathogenic (recessive) g.24151875G>A - - - HMGCL_000050 - PubMed: Aoyama 2015 - - Germline - - - - - DNA MLPA, PCR, SEQ - - HMGCLD Pat1 PubMed: Aoyama 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Japan - - - - - 1 Johan den Dunnen
+/. - c.31C>T r.(?) p.(Arg11Ter) Both (homozygous) - pathogenic (recessive) g.24151875G>A g.23825385G>A - - HMGCL_000050 - PubMed: Grunert 2017 - - Germline - - - - - DNA SEQ - - HMGCLD Pat12 PubMed: Grunert 2017 - F yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.31C>T r.(?) p.(Arg11Ter) Both (homozygous) - pathogenic (recessive) g.24151875G>A g.23825385G>A - - HMGCL_000050 - PubMed: Grunert 2017 - - Germline - - - - - DNA SEQ - - HMGCLD Pat22 PubMed: Grunert 2017 - M - Turkey - - - - - 1 Johan den Dunnen
+/. - c.31C>T r.(?) p.(Arg11Ter) Both (homozygous) - pathogenic (recessive) g.24151875G>A g.23825385G>A - - HMGCL_000050 - PubMed: Grunert 2017 - - Germline - - - - - DNA SEQ - - HMGCLD Pat24 PubMed: Grunert 2017 - F - Turkey - - - - - 1 Johan den Dunnen
+/. 1 c.31C>T r.(?) p.(Arg11*) Parent #2 ACMG pathogenic (recessive) g.24151875G>A g.23825385G>A - - HMGCL_000050 Grünert 2017:28583327, Aoyama 2015:25872961, Puisac 2013:23465862 - ClinVar-521752 rs1212444447 Germline yes - - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing HMGCLD 3bINP-074 PubMed: Vela-Amieva 2024 Co-occurrence of two different monogenic diseases (a pathogenic variant in the MSH6 gene was identified as a secondary finding). F no Mexico Mexican - - - - 1 Miriam Erandi Reyna-Fabián
+/. 1i_4i c.61-540_348+22del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.24143146_24147626del g.23816656_23821136del NG_013061 g.9326-13806del - HMGCL_000051 - PubMed: Aoyama 2015 - - Germline - - - - - DNA MLPA, PCR, SEQ - - HMGCLD Pat1 PubMed: Aoyama 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Japan - - - - - 1 Johan den Dunnen
+/. _1i_6i c.(?_61-1)_(561+1_562-1)del r.? p.? Both (homozygous) - pathogenic (recessive) g.(24134814_24137225)_(24147084_?)del g.(23808324_23810735)_(23820594_?)del del ex(1_2)-6 - HMGCL_000018 - PubMed: Wang 1996 - - Germline - - - - - DNA Southern - - HMGCLD PatHL27 PubMed: Wang 1996 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.88C>T r.(?) p.(Pro30Ser) Unknown - likely benign g.24147056G>A g.23820566G>A HMGCL(NM_000191.2):c.88C>T (p.(Pro30Ser)) - HMGCL_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.109G>A r.(?) p.(Glu37Lys) Both (homozygous) - pathogenic (recessive) g.24147035C>T g.23820545C>T - - HMGCL_000069 - PubMed: Menao 2009 - - Germline - - - - - DNA SEQ - - HMGCLD Pat8 PubMed: Menao 2009 - - - Pakistan - - - - - 1 Johan den Dunnen
+/. 2 c.109G>A r.(?) p.(Glu37Lys) Both (homozygous) - pathogenic (recessive) g.24147035C>T g.23820545C>T - - HMGCL_000069 - PubMed: Menao 2009 - - Germline - - - - - DNA SEQ - - HMGCLD Pat9 PubMed: Menao 2009 - - - Pakistan - - - - - 1 Johan den Dunnen
+/. - c.109G>A r.[109c>u,61_144del,61_252del] p.[Glu37*,Val21_Lys48del,Val21_Gln84del] Both (homozygous) - pathogenic (recessive) g.24147035C>T g.23820545C>T - - HMGCL_000069 - PubMed: Casale 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - HMGCLD PatDG PubMed: Casale 1998 - F no Spain - - - - - 1 Johan den Dunnen
+/. - c.109G>A r.[109c>u,61_144del,61_252del] p.[Glu37*,Val21_Lys48del,Val21_Gln84del] Both (homozygous) - pathogenic (recessive) g.24147035C>T g.23820545C>T - - HMGCL_000069 - PubMed: Casale 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - HMGCLD PatJI PubMed: Casale 1998 - M no Spain - - - - - 1 Johan den Dunnen
+/. - c.109G>A r.[109c>u,61_144del,61_252del] p.[Glu37*,Val21_Lys48del,Val21_Gln84del] Both (homozygous) - pathogenic (recessive) g.24147035C>T g.23820545C>T - - HMGCL_000069 - PubMed: Casale 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - HMGCLD PatJG PubMed: Casale 1998 - M yes Spain gypsy - - - - 1 Johan den Dunnen
+/. - c.109G>A r.[109c>u,61_144del,61_252del] p.[Glu37*,Val21_Lys48del,Val21_Gln84del] Both (homozygous) - pathogenic (recessive) g.24147035C>T g.23820545C>T - - HMGCL_000069 - PubMed: Casale 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - HMGCLD PatST PubMed: Casale 1998 - M - Turkey - - - - - 1 Johan den Dunnen
+/. - c.109G>T r.[109c>u,61_144del] p.[Glu37*,Val21_Lys48del] Both (homozygous) - pathogenic (recessive) g.24147035C>A - - - HMGCL_000024 - PubMed: Pie 1997 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - HMGCLD Pat1 PubMed: Pie 1997 - M no Portugal - - - - - 1 Johan den Dunnen
+/. - c.109G>T r.[109c>u,61_144del] p.[Glu37*,Val21_Lys48del] Both (homozygous) - pathogenic (recessive) g.24147035C>A - - - HMGCL_000024 - PubMed: Pie 1997 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - HMGCLD Pat2 PubMed: Pie 1997 - F yes Morocco - - - - - 1 Johan den Dunnen
+/. - c.109G>T r.(?) p.(Glu37*) Parent #2 - pathogenic (recessive) g.24147035C>A - E37X - HMGCL_000024 - PubMed: Vargas 2008 - - Germline - - - - - DNA SEQ - - HMGCLD PatRL PubMed: Vargas 2008 - M - Brazil Portugal - - - - 1 Johan den Dunnen
+/. - c.109G>T r.(?) p.(Glu37*) Parent #2 - pathogenic (recessive) g.24147035C>A - E37X - HMGCL_000024 - PubMed: Vargas 2008 - - Germline - - - - - DNA SEQ - - HMGCLD PatVO PubMed: Vargas 2008 - M - Brazil Portugal - - - - 1 Johan den Dunnen
+/. - c.109G>T r.(?) p.(Glu37*) Both (homozygous) - pathogenic (recessive) g.24147035C>A - E37X - HMGCL_000024 - PubMed: Vargas 2008 - - Germline - - - - - DNA SEQ - - HMGCLD PatES PubMed: Vargas 2008 - M - Brazil - - - - - 1 Johan den Dunnen
+/. - c.109G>T r.(?) p.(Glu37*) Parent #1 - pathogenic g.24147035C>A - - - HMGCL_000024 unknown variant 2nd chromosome; HMGCL activity 0.08 PubMed: Cardoso 2004 - - Germline - - - - - DNA SEQ - - HMGCLD Pat1 PubMed: Cardoso 2004 - M - Portugal - - - - - 1 Johan den Dunnen
+/. - c.109G>T r.(?) p.(Glu37*) Both (homozygous) - pathogenic (recessive) g.24147035C>A - - - HMGCL_000024 - PubMed: Cardoso 2004 - - Germline - - - - - DNA SEQ - - HMGCLD Pat2 PubMed: Cardoso 2004 - M - Portugal - - - - - 1 Johan den Dunnen
+/. - c.109G>T r.(?) p.(Glu37*) Both (homozygous) - pathogenic (recessive) g.24147035C>A - - - HMGCL_000024 - PubMed: Cardoso 2004 - - Germline - - - - - DNA SEQ - - HMGCLD Pat3 PubMed: Cardoso 2004 - F - Portugal - - - - - 1 Johan den Dunnen
+/. - c.109G>T r.(?) p.(Glu37*) Both (homozygous) - pathogenic (recessive) g.24147035C>A - - - HMGCL_000024 HMGCL activity 0.08 PubMed: Cardoso 2004 - - Germline - - - - - DNA SEQ - - HMGCLD Pat4 PubMed: Cardoso 2004 family, 3 affected F - Portugal - - - - - 3 Johan den Dunnen
+/. - c.109G>T r.(?) p.(Glu37*) Both (homozygous) - pathogenic (recessive) g.24147035C>A - - - HMGCL_000024 - PubMed: Cardoso 2004 - - Germline - - - - - DNA SEQ - - HMGCLD Pat5 PubMed: Cardoso 2004 sib M - Portugal - - - - - 1 Johan den Dunnen
+/. - c.109G>T r.(?) p.(Glu37*) Both (homozygous) - pathogenic (recessive) g.24147035C>A - - - HMGCL_000024 - PubMed: Cardoso 2004 - - Germline - - - - - DNA SEQ - - HMGCLD Pat6 PubMed: Cardoso 2004 relative M - Portugal - - - - - 1 Johan den Dunnen
+/. - c.109G>T r.(?) p.(Glu37*) Both (homozygous) - pathogenic (recessive) g.24147035C>A - - - HMGCL_000024 HMGCL activity 0.00 PubMed: Cardoso 2004 - - Germline - - - - - DNA SEQ - - HMGCLD Pat7 PubMed: Cardoso 2004 - M - Portugal - 00y01m - - - 1 Johan den Dunnen
+/. - c.109G>T r.(?) p.(Glu37*) Parent #1 - pathogenic (recessive) g.24147035C>A - - - HMGCL_000024 HMGCL activity 0.07 (compound heterozygous) PubMed: Cardoso 2004 - - Germline - - - - - DNA SEQ - - HMGCLD Pat8 PubMed: Cardoso 2004 - F - Portugal - 06y - - - 1 Johan den Dunnen
+/. - c.109G>T r.(?) p.(Glu37*) Parent #1 - pathogenic (recessive) g.24147035C>A - - - HMGCL_000024 HMGCL activity 0.00 (compound heterozygous) PubMed: Cardoso 2004 - - Germline - - - - - DNA SEQ - - HMGCLD Pat9 PubMed: Cardoso 2004 - F - Portugal - - - - - 1 Johan den Dunnen
+/. - c.109G>T r.(?) p.(Glu37*) Both (homozygous) - pathogenic (recessive) g.24147035C>A - - - HMGCL_000024 - PubMed: Cardoso 2004 - - Germline - - - - - DNA SEQ - - HMGCLD Pat10 PubMed: Cardoso 2004 - F - Portugal - - - - - 1 Johan den Dunnen
+/. - c.109G>T r.(?) p.(Glu37*) Both (homozygous) - pathogenic (recessive) g.24147035C>A - - - HMGCL_000024 - PubMed: Cardoso 2004 - - Germline - - - - - DNA SEQ - - HMGCLD Pat11 PubMed: Cardoso 2004 - F - Portugal - - - - - 1 Johan den Dunnen
+/. - c.109G>T r.[109c>u,61_144del] p.[Glu37*,Val21_Lys48del] Both (homozygous) - pathogenic (recessive) g.24147035C>A - - - HMGCL_000024 - PubMed: Puisac 2005 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - HMGCLD PatPJG PubMed: Puisac 2005 - M - Spain - - - - - 1 Johan den Dunnen
+/. - c.109G>T r.(?) p.(Glu37Ter) Both (homozygous) - pathogenic (recessive) g.24147035C>A g.23820545C>A - - HMGCL_000024 - PubMed: Koling 2000, PubMed: Grunert 2017 - - Germline - - - - - DNA SEQ - - HMGCLD Pat17 PubMed: Grunert 2017 - M - Portugal - - - - - 1 Johan den Dunnen
+/. - c.109G>T r.(?) p.(Glu37*) Unknown - pathogenic g.24147035C>A - HMGCL(NM_000191.3):c.109G>T (p.E37*) - HMGCL_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.109G>T r.(?) p.(Glu37*) Both (homozygous) ACMG pathogenic (recessive) g.24147035C>A g.23820545C>A - - HMGCL_000024 - PubMed: Grünert 2017 PubMed: Muñoz-Bonet 2017 PubMed: Puisac 2013 ClinVar-195033 rs763494292 Germline yes - - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing HMGCLD 3bINP-042 PubMed: Vela-Amieva 2024 Familial case (brother affected: died at 09m) F no Mexico Mexican - - - - 1 Miriam Erandi Reyna-Fabián
+?/. 2 c.112G>T r.(?) p.(Val38Phe) Both (homozygous) ACMG likely pathogenic (!) g.24147032C>A g.23820542C>A - - HMGCL_000071 ClinVar reports another patient with Deficiency of hydroxymethylglutaryl-CoA lyase who presents the same variant. Molecular analysis in parents could not be performed (father died). Acoording to Uniprot (P35914) this variant is located at the Pyruvate carboxyltransferase domain (33-300aa). This domain is found in pyruvate binding enzymes and acetyl-CoA dependent enzymes, suggesting that this domain can be associated with different enzymatic activities. - ClinVar-2075645 - Germline yes - - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing HMGCLD 3bINP-035 PubMed: Vela-Amieva 2024 Familial case (sister affected: died at 11m) F yes Mexico Mexican - - - - 1 Miriam Erandi Reyna-Fabián
+/. - c.121C>T r.(?) p.(Arg41*) Both (homozygous) - pathogenic (recessive) g.24147023G>A - - - HMGCL_000023 no variant 2nd chromosome PubMed: Mitchell 1998 - - Germline - - - - - DNA SEQ, SSCA - - HMGCLD PatHL25 PubMed: Mitchell 1998 - - - England;Germany - - - - - 1 Johan den Dunnen
+/. 2 c.121C>T r.(?) p.(Arg41*) Parent #1 ACMG pathogenic (recessive) g.24147023G>A g.23820533G>A - - HMGCL_000023 Mitchel 1998:9463337, Pié 2007:17692550, Menao 2009:19177531 - ClinVar-553933 rs770225915 Germline yes - - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing HMGCLD 3bINP-010 PubMed: Vela-Amieva 2024 - F no Mexico Mexican - - - - 1 Miriam Erandi Reyna-Fabián
+/. - c.122G>A r.(?) p.(Arg41Gln) Unknown - pathogenic g.24147022C>T g.23820532C>T HMGCL(NM_000191.3):c.122G>A (p.R41Q) - HMGCL_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T g.23820532C>T - - HMGCL_000004 - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - Germline - - - - - DNA SEQ - - HMGCLD - PubMed: Alfadhel 2022, Journal: Alfadhel 2022 - - - Saudi Arabia - - - - - 1 Muhammad Umair
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T - - - HMGCL_000004 - PubMed: Mitchell 1998 - - Germline - - - - - DNA SEQ, SSCA - - HMGCLD PatHL3 PubMed: Mitchell 1998 - - - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T - - - HMGCL_000004 - PubMed: Mitchell 1998 - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T - - - HMGCL_000004 - PubMed: Mitchell 1998 - - Germline - - - - - DNA SEQ, SSCA - - HMGCLD PatHL4 PubMed: Mitchell 1998 - - - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T - - - HMGCL_000004 - PubMed: Mitchell 1998 - - Germline - - - - - DNA SEQ, SSCA - - HMGCLD PatHL5 PubMed: Mitchell 1998 - - - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T - - - HMGCL_000004 - PubMed: Mitchell 1998 - - Germline - - - - - DNA SEQ, SSCA - - HMGCLD PatHL6 PubMed: Mitchell 1998 - - - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T - - - HMGCL_000004 - PubMed: Mitchell 1998 - - Germline - - - - - DNA SEQ, SSCA - - HMGCLD PatHL33 PubMed: Mitchell 1998 - - - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T - - - HMGCL_000004 - PubMed: Mitchell 1998 - - Germline - - - - - DNA SEQ, SSCA - - HMGCLD PatHL37 PubMed: Mitchell 1998 - - - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T - - - HMGCL_000004 - PubMed: Mitchell 1998 - - Germline - - - - - DNA SEQ, SSCA - - HMGCLD PatHL41 PubMed: Mitchell 1998 - - - Turkey - - - - - 1 Johan den Dunnen
+/. - c.122G>A r.(?) p.(Arg41Gln) Parent #1 - pathogenic (recessive) g.24147022C>T - - - HMGCL_000004 no variant 2nd chromosome PubMed: Mitchell 1998 - - Germline - - - - - DNA SEQ, SSCA - - HMGCLD PatHL36 PubMed: Mitchell 1998 - - - Italy - - - - - 1 Johan den Dunnen
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T - - - HMGCL_000004 - PubMed: Pospisilova 2003 - - Germline - - - - - DNA SEQ - - HMGCLD Pat3 PubMed: Pospisilova 2003 - M - Czech Republic - - - - - 1 Johan den Dunnen
+/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - pathogenic (recessive) g.24147022C>T - - - HMGCL_000004 - PubMed: Al-Sayed 2006 - - Germline - 32/36 cases - - - DNA SEQ - - HMGCLD patient PubMed: Al-Sayed 2006 analysis 36 HMG-CoA lyase deficiency cases - - Saudi Arabia - - - - - 32 Johan den Dunnen
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