ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q13.1-21.1(chr4:66017575-76772947)x1
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 |
26 | 52 | |
HTN3 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh38 GRCh37 |
5 | 36 | |
ADAMTS3 | - | - |
GRCh38 GRCh37 |
121 | 148 | |
AFM | - | - |
GRCh38 GRCh37 |
43 | 67 | |
AFP | - | - |
GRCh38 GRCh37 |
38 | 68 | |
ALB | - | - |
GRCh38 GRCh37 |
169 | 195 | |
AMBN | - | - |
GRCh38 GRCh37 |
52 | 81 | |
AMTN | - | - |
GRCh38 GRCh37 |
17 | 45 | |
ANKRD17 | - | - |
GRCh38 GRCh37 |
199 | 236 | |
AREG | - | - |
GRCh38 GRCh37 |
6 | 33 |
There are 67 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) |
|
Oct 10, 2014 | RCV000510445.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023