ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3q29(chr3:197681032-198111976)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 | |||
FYTTD1 | - | - |
GRCh38 GRCh37 |
13 | 72 | |
IQCG | - | - |
GRCh38 GRCh37 |
23 | 197 | |
LMLN | - | - |
GRCh38 GRCh37 |
27 | 84 | |
LMLN-AS1 | - | - | - | GRCh38 | - | 29 |
LOC107133517 | - | - | - | GRCh38 | - | 26 |
LOC112935925 | - | - | - | GRCh38 | - | 24 |
LOC112935926 | - | - | - | GRCh38 | - | 24 |
LOC123464506 | - | - | - |
GRCh38 GRCh38 |
- | 29 |
LOC126806937 | - | - | - | GRCh38 | - | 25 |
LOC126806938 | - | - | - | GRCh38 | - | 27 |
There are 19 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 24, 2023 | RCV003327648.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024