ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1
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 | 152 | |
ZIC4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
102 | 122 | |
AADAC | - | - |
GRCh38 GRCh37 |
- | 48 | |
AADACL2 | - | - | - |
GRCh38 GRCh38 GRCh37 |
9 | 39 |
AGTR1 | - | - |
GRCh38 GRCh37 |
124 | 143 | |
ANKUB1 | - | - | - |
GRCh38 GRCh37 |
33 | 53 |
ARHGEF26 | - | - |
GRCh38 GRCh38 GRCh37 |
61 | 77 | |
ARL14 | - | - |
GRCh38 GRCh37 |
1 | 37 | |
B3GALNT1 | - | - |
GRCh38 GRCh37 |
21 | 45 | |
C3orf33 | - | - |
GRCh38 GRCh37 |
2 | 19 |
There are 75 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 26, 2021 | RCV001795847.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 09, 2023