MLDHR

Basic information

Region (hg38): 10:87863559-87863654

Links

ENSG00000289051HGNC:55481GenCCjaxSfariGnomADPubmedClinVar

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
clinvar
1
clinvar
27
missense
53
clinvar
1
clinvar
54
nonsense
2
clinvar
2
start loss
3
clinvar
1
clinvar
4
frameshift
15
clinvar
15
inframe indel
1
clinvar
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)127681
10-87863560-T-G not specified Uncertain significance (Jan 22, 2024)488768
10-87863562-T-G Uncertain significance (Feb 25, 2014)127680
10-87863562-TG-T Hereditary cancer-predisposing syndrome Uncertain significance (Apr 06, 2017)1765658
10-87863562-TGGCGGGACTCTTTATGCGCTGC-T Hereditary cancer-predisposing syndrome Uncertain significance (Nov 23, 2018)822925
10-87863562-T-TG Hereditary cancer-predisposing syndrome Uncertain significance (Oct 29, 2019)822971
10-87863563-G-A not specified • Hereditary cancer-predisposing syndrome Uncertain significance (Jul 01, 2024)422946
10-87863563-G-C Hereditary cancer-predisposing syndrome Uncertain significance (Oct 18, 2019)822982
10-87863562-T-TGGCGGGACTCTTTATGCGCTGC not specified • PTEN-related disorder Uncertain significance (Sep 26, 2024)189436
10-87863563-G-GGCGGGACTCTTTATGCGCT Uncertain significance (Feb 04, 2016)503732
10-87863565-C-A not specified Uncertain significance (Jan 27, 2025)127679
10-87863565-C-T Uncertain significance (Apr 24, 2024)3372886
10-87863565-CG-GA Uncertain significance (Mar 03, 2024)503734
10-87863565-CG-C Hereditary cancer-predisposing syndrome Uncertain significance (Dec 13, 2022)822915
10-87863566-G-A not specified • PTEN hamartoma tumor syndrome • Hereditary cancer-predisposing syndrome Benign (Sep 14, 2016)138837
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)421785
10-87863566-G-T Hereditary cancer-predisposing syndrome Uncertain significance (Jul 24, 2018)822924
10-87863565-C-CGACTCTTTATGCGCTGCGGCA Hereditary cancer-predisposing syndrome Uncertain significance (May 24, 2018)822917
10-87863567-G-A Hereditary cancer-predisposing syndrome Uncertain significance (Mar 29, 2019)822916
10-87863567-G-C Hereditary cancer-predisposing syndrome Uncertain significance (Jan 06, 2020)1765534
10-87863567-G-T Uncertain significance (Jul 14, 2022)1316687
10-87863566-G-GGGACTCTTTATGCGCTGCGGCA Hereditary cancer-predisposing syndrome Uncertain significance (Apr 02, 2024)619909
10-87863568-G-A Uncertain significance (Oct 07, 2021)495811
10-87863568-G-C Uncertain significance (Jun 13, 2023)1327799
10-87863570-C-G Uncertain significance (Dec 24, 2019)1190375

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP