MLDHR

Basic information

Region (hg38): 10:87863559-87863654

Links

ENSG00000289051 ∙ ∙ ∙ HGNC:55481 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MLDHR gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MLDHR gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			26	1		27
missense			53		1	54
nonsense			2			2
start loss			3	1		4
frameshift			15			15
inframe indel			1			1
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	100	2	1

Variants in MLDHR

This is a list of pathogenic ClinVar variants found in the MLDHR region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
10-87863560-T-C		Hereditary cancer-predisposing syndrome • not specified • PTEN hamartoma tumor syndrome • Glioma susceptibility 2;Macrocephaly-autism syndrome;Familial meningioma;Prostate cancer;Cowden syndrome 1	Likely benign (Jul 25, 2018)
10-87863560-T-G		not specified	Uncertain significance (Jan 22, 2024)
10-87863562-T-G			Uncertain significance (Feb 25, 2014)
10-87863562-TG-T		Hereditary cancer-predisposing syndrome	Uncertain significance (Apr 06, 2017)
10-87863562-TGGCGGGACTCTTTATGCGCTGC-T		Hereditary cancer-predisposing syndrome	Uncertain significance (Nov 23, 2018)
10-87863562-T-TG		Hereditary cancer-predisposing syndrome	Uncertain significance (Oct 29, 2019)
10-87863563-G-A		not specified • Hereditary cancer-predisposing syndrome	Uncertain significance (Jul 01, 2024)
10-87863563-G-C		Hereditary cancer-predisposing syndrome	Uncertain significance (Oct 18, 2019)
10-87863562-T-TGGCGGGACTCTTTATGCGCTGC		not specified • PTEN-related disorder	Uncertain significance (Sep 26, 2024)
10-87863563-G-GGCGGGACTCTTTATGCGCT			Uncertain significance (Feb 04, 2016)
10-87863565-C-A		not specified	Uncertain significance (Jan 27, 2025)
10-87863565-C-T			Uncertain significance (Apr 24, 2024)
10-87863565-CG-GA			Uncertain significance (Mar 03, 2024)
10-87863565-CG-C		Hereditary cancer-predisposing syndrome	Uncertain significance (Dec 13, 2022)
10-87863566-G-A		not specified • PTEN hamartoma tumor syndrome • Hereditary cancer-predisposing syndrome	Benign (Sep 14, 2016)
10-87863566-G-C		not specified • Macrocephaly-autism syndrome;Familial meningioma;Cowden syndrome 1;Glioma susceptibility 2;Familial prostate cancer	Uncertain significance (Dec 28, 2023)
10-87863566-G-T		Hereditary cancer-predisposing syndrome	Uncertain significance (Jul 24, 2018)
10-87863565-C-CGACTCTTTATGCGCTGCGGCA		Hereditary cancer-predisposing syndrome	Uncertain significance (May 24, 2018)
10-87863567-G-A		Hereditary cancer-predisposing syndrome	Uncertain significance (Mar 29, 2019)
10-87863567-G-C		Hereditary cancer-predisposing syndrome	Uncertain significance (Jan 06, 2020)
10-87863567-G-T			Uncertain significance (Jul 14, 2022)
10-87863566-G-GGGACTCTTTATGCGCTGCGGCA		Hereditary cancer-predisposing syndrome	Uncertain significance (Apr 02, 2024)
10-87863568-G-A			Uncertain significance (Oct 07, 2021)
10-87863568-G-C			Uncertain significance (Jun 13, 2023)
10-87863570-C-G			Uncertain significance (Dec 24, 2019)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP