ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)
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 | |||
ANK2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2586 | 3157 | |
NAA15 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
372 | 416 | |
PITX2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
219 | 233 | |
ABHD18 | - | - | - |
GRCh38 GRCh37 |
16 | 61 |
ADAD1 | - | - |
GRCh38 GRCh37 |
19 | 42 | |
AFG2A | - | - |
GRCh38 GRCh37 |
760 | 787 | |
AIMP1 | - | - |
GRCh38 GRCh37 |
102 | 125 | |
ALPK1 | - | - |
GRCh38 GRCh37 |
619 | 637 | |
ANKRD50 | - | - |
GRCh38 GRCh37 |
62 | 89 | |
ANXA5 | - | - |
GRCh38 GRCh37 |
25 | 57 |
There are 115 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 1, 2022 | RCV002053446.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023