ClinVar Genomic variation as it relates to human health
GRCh37/hg19 18q23(chr18:74285842-78010032)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
GALR1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
23 | 193 | |
ADNP2 | - | - |
GRCh38 GRCh37 |
74 | 250 | |
ATP9B | - | - |
GRCh38 GRCh37 |
92 | 273 | |
CTDP1 | - | - |
GRCh38 GRCh38 GRCh37 |
530 | 715 | |
HSBP1L1 | - | - | - |
GRCh38 GRCh37 |
1 | 182 |
KCNG2 | - | - |
GRCh38 GRCh37 |
36 | 228 | |
LINC00683 | - | - | - |
GRCh38 GRCh37 |
- | 156 |
LINC01879 | - | - | - |
GRCh38 GRCh37 |
- | 158 |
MBP | - | - |
GRCh38 GRCh37 |
22 | 191 | |
NFATC1 | - | - |
GRCh38 GRCh37 |
213 | 400 |
There are 6 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 7, 2018 | RCV000762707.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 24, 2022