ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)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 | |||
ANK2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2647 | 3230 | |
NAA15 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
383 | 427 | |
NR3C2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
294 | 339 | |
PITX2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
221 | 236 | |
NAF1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
174 | 219 | |
AADAT | - | - |
GRCh38 GRCh37 |
8 | 66 | |
ABCE1 | - | - |
GRCh38 GRCh37 |
12 | 42 | |
ABHD18 | - | - | - |
GRCh38 GRCh37 |
18 | 63 |
ACSL1 | - | - |
GRCh38 GRCh37 |
42 | 154 | |
ADAD1 | - | - |
GRCh38 GRCh37 |
22 | 46 |
There are 247 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Jun 3, 2014 | RCV000511945.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024