Full data view for gene HMGCL

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

60 entries on 1 page. Showing entries 1 - 60.
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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.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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