ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3q23-25.32(chr3:142729607-157921084)x3
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 | |||
ZIC1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
133 | 151 | |
ZIC4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
102 | 121 | |
AADAC | - | - |
GRCh38 GRCh37 |
- | 48 | |
AADACL2 | - | - | - |
GRCh38 GRCh38 GRCh37 |
9 | 39 |
AGTR1 | - | - |
GRCh38 GRCh37 |
124 | 142 | |
ANKUB1 | - | - | - |
GRCh38 GRCh37 |
33 | 52 |
ARHGEF26 | - | - |
GRCh38 GRCh38 GRCh37 |
61 | 77 | |
C3orf33 | - | - |
GRCh38 GRCh37 |
2 | 18 | |
CCNL1 | - | - |
GRCh38 GRCh37 |
16 | 34 | |
CHST2 | - | - |
GRCh38 GRCh37 |
15 | 35 |
There are 55 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 30, 2021 | RCV001801182.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jan 26, 2024