ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12q24.21-24.23(chr12:116499832-118681240)x1
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
MED13L | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1287 | 1306 | |
FBXO21 | - | - |
GRCh38 GRCh37 |
25 | 43 | |
FBXW8 | - | - |
GRCh38 GRCh37 |
29 | 64 | |
HRK | - | - |
GRCh38 GRCh37 |
7 | 26 | |
KSR2 | - | - |
GRCh38 GRCh37 |
184 | 199 | |
MAP1LC3B2 | - | - |
GRCh38 GRCh37 |
9 | 26 | |
NOS1 | - | - |
GRCh38 GRCh37 |
135 | 158 | |
PEBP1 | - | - |
GRCh38 GRCh37 |
7 | 22 | |
RFC5 | - | - |
GRCh38 GRCh37 |
12 | 35 | |
RNFT2 | - | - |
GRCh38 GRCh37 |
25 | 42 |
There are 5 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Mar 16, 2023 | RCV003483174.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024