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 |
2523 | 3074 | |
NAA15 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
363 | 407 | |
NR3C2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
278 | 323 | |
PITX2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
212 | 226 | |
AADAT | - | - |
GRCh38 GRCh37 |
4 | 62 | |
ABCE1 | - | - |
GRCh38 GRCh37 |
11 | 41 | |
ABHD18 | - | - | - |
GRCh38 GRCh37 |
11 | 55 |
ACSL1 | - | - |
GRCh38 GRCh37 |
24 | 136 | |
ADAD1 | - | - |
GRCh38 GRCh37 |
13 | 36 | |
ADAM29 | - | - |
GRCh38 GRCh37 |
36 | 111 |
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 |
---|---|---|---|---|
Pathogenic (1) |
|
Jun 3, 2014 | RCV000511945.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023