ClinVar Genomic variation as it relates to human health
GRCh37/hg19 18p11.22-11.21(chr18:9671667-14854484)x1
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
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 | |||
AFG3L2 | - | - |
GRCh38 GRCh37 |
419 | 559 | |
ANKRD30B | - | - |
GRCh38 GRCh37 |
110 | 185 | |
ANKRD62 | - | - | - |
GRCh38 GRCh37 |
2 | 97 |
APCDD1 | - | - |
GRCh38 GRCh37 |
106 | 209 | |
CEP192 | - | - |
GRCh38 GRCh37 |
155 | 246 | |
CEP76 | - | - |
GRCh38 GRCh37 |
- | 129 | |
CHMP1B | - | - |
GRCh38 GRCh37 |
- | 120 | |
CIDEA | - | - |
GRCh38 GRCh37 |
18 | 112 | |
FAM210A | - | - |
GRCh38 GRCh37 |
21 | 108 | |
GNAL | - | - |
GRCh38 GRCh37 |
227 | 360 |
There are 20 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 |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Nov 19, 2013 | RCV000510514.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024