ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8p12-11.21(chr8:31352498-41481295)x3
Germline
Classification
(1)
Pathogenic
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 | |||
FGFR1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
983 | 1113 | |
ADAM18 | - | - |
GRCh38 GRCh38 GRCh37 |
39 | 97 | |
ADAM2 | - | - |
GRCh38 GRCh38 GRCh37 |
49 | 107 | |
ADAM32 | - | - |
GRCh38 GRCh38 GRCh37 |
51 | 110 | |
ADAM9 | - | - |
GRCh38 GRCh38 GRCh37 |
478 | 560 | |
ADGRA2 | - | - |
GRCh38 GRCh37 |
100 | 186 | |
ADRB3 | - | - |
GRCh38 GRCh37 |
32 | 95 | |
ASH2L | - | - |
GRCh38 GRCh37 |
21 | 90 | |
BAG4 | - | - |
GRCh38 GRCh37 |
31 | 99 | |
BRF2 | - | - |
GRCh38 GRCh37 |
13 | 98 |
There are 33 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) |
|
Jul 14, 2017 | RCV000683035.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022