ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8p12-11.21(chr8:29362097-40231708)x1
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 |
960 | 1088 | |
ADAM18 | - | - |
GRCh38 GRCh38 GRCh37 |
35 | 93 | |
ADAM2 | - | - |
GRCh38 GRCh38 GRCh37 |
38 | 96 | |
ADAM32 | - | - |
GRCh38 GRCh38 GRCh37 |
48 | 107 | |
ADAM9 | - | - |
GRCh38 GRCh38 GRCh37 |
473 | 555 | |
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 |
There are 278 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 22, 2010 | RCV000136878.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024