ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8p11.23-11.21(chr8:38342177-40546982)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 |
966 | 1094 | |
ADAM18 | - | - |
GRCh38 GRCh38 GRCh37 |
35 | 93 | |
ADAM2 | - | - |
GRCh38 GRCh38 GRCh37 |
38 | 96 | |
ADAM32 | - | - |
GRCh38 GRCh38 GRCh37 |
48 | 107 | |
ADAM9 | - | - |
GRCh38 GRCh38 GRCh37 |
475 | 557 | |
HTRA4 | - | - |
GRCh38 GRCh37 |
22 | 92 | |
IDO1 | - | - |
GRCh38 GRCh37 |
20 | 78 | |
IDO2 | - | - |
GRCh38 GRCh37 |
38 | 100 | |
LETM2 | - | - |
GRCh38 GRCh37 |
10 | 92 | |
LINC02866 | - | - | - | GRCh38 | - | 32 |
There are 73 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000054238.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023