MLDHR
Basic information
Region (hg38): 10:87863559-87863654
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
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 | 27 | ||||
missense | 53 | 54 | ||||
nonsense | 2 | |||||
start loss | 4 | |||||
frameshift | 15 | 15 | ||||
inframe indel | 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:
dbNSFP
Source: