ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q33-35.1(chr4:171476330-184998011)x1
Germline
Classification
(1)
Likely 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 | |||
ADAM29 | - | - |
GRCh38 GRCh37 |
36 | 111 | |
AGA | - | - |
GRCh38 GRCh37 |
515 | 613 | |
ASB5 | - | - |
GRCh38 GRCh37 |
11 | 89 | |
CDKN2AIP | - | - |
GRCh38 GRCh37 |
17 | 119 | |
CEP44 | - | - |
GRCh38 GRCh37 |
14 | 84 | |
CLDN22 | - | - |
GRCh38 GRCh37 |
- | 112 | |
CLDN24 | - | - | - |
GRCh38 GRCh37 |
10 | 110 |
DCTD | - | - |
GRCh38 GRCh37 |
9 | 117 | |
FBXO8 | - | - |
GRCh38 GRCh37 |
8 | 77 | |
GALNT7 | - | - |
GRCh38 GRCh37 |
21 | 83 |
There are 19 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Dec 9, 2022 | RCV003485442.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024