ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8p21.2-11.22(chr8:26808969-38346383)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 | |||
FGFR1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
960 | 1088 | |
ADGRA2 | - | - |
GRCh38 GRCh37 |
91 | 177 | |
ADRB3 | - | - |
GRCh38 GRCh37 |
31 | 94 | |
ASH2L | - | - |
GRCh38 GRCh37 |
21 | 90 | |
BAG4 | - | - |
GRCh38 GRCh37 |
28 | 96 | |
BRF2 | - | - |
GRCh38 GRCh37 |
12 | 97 | |
CCDC25 | - | - |
GRCh38 GRCh37 |
9 | 91 | |
CHRNA2 | - | - |
GRCh38 GRCh37 |
735 | 816 | |
CLU | - | - |
GRCh38 GRCh37 |
21 | 101 | |
DCTN6 | - | - |
GRCh38 GRCh37 |
8 | 80 |
There are 51 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) |
|
Oct 22, 2021 | RCV002472596.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023