ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 | |||
YTHDC1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
21 | 47 | |
HTN3 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh38 GRCh37 |
- | 34 | |
SCARB2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
481 | - | |
ADAMTS3 | - | - |
GRCh38 GRCh37 |
96 | 123 | |
AFM | - | - |
GRCh38 GRCh37 |
- | 60 | |
AFP | - | - |
GRCh38 GRCh37 |
32 | 62 | |
ALB | - | - |
GRCh38 GRCh37 |
- | 192 | |
AMBN | - | - |
GRCh38 GRCh37 |
47 | 76 | |
AMTN | - | - |
GRCh38 GRCh37 |
17 | 45 | |
ANKRD17 | - | - |
GRCh38 GRCh37 |
177 | 212 |
There are 101 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) |
|
Feb 22, 2018 | RCV000845944.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023