ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)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 |
956 | 1083 | |
GATA4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
759 | 878 | |
CHMP7 | No evidence available | No evidence available |
GRCh38 GRCh37 |
11 | 98 | |
CTSB | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
107 | 242 | |
MFHAS1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
79 | 214 | |
NEFL | No evidence available | No evidence available |
GRCh38 GRCh37 |
558 | 695 | |
PSD3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
65 | 163 | |
ADAM28 | - | - |
GRCh38 GRCh37 |
- | 121 | |
ADAM7 | - | - |
GRCh38 GRCh37 |
- | 124 | |
ADAM7-AS1 | - | - | - | GRCh38 | - | 144 |
There are 1010 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) |
|
Feb 25, 2013 | RCV000139891.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 02, 2023