ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q34-35.1(chr5:165763259-170909410)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 | |||
TLX3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
10 | 27 | |
C5orf58 | - | - | - |
GRCh38 GRCh37 |
2 | 30 |
DOCK2 | - | - |
GRCh38 GRCh37 |
962 | 1057 | |
FGF18 | - | - |
GRCh38 GRCh37 |
14 | 32 | |
FOXI1 | - | - |
GRCh38 GRCh37 |
150 | 172 | |
GABRP | - | - |
GRCh38 GRCh37 |
30 | 51 | |
INSYN2B | - | - | - |
GRCh38 GRCh37 |
- | 67 |
KCNIP1 | - | - |
GRCh38 GRCh37 |
7 | 51 | |
KCNMB1 | - | - |
GRCh38 GRCh37 |
- | 43 | |
LCP2 | - | - |
GRCh38 GRCh37 |
39 | 68 |
There are 10 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) |
|
- | RCV003986566.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024