ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)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 | |
KAT6A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1406 | 1460 | |
CHMP7 | No evidence available | No evidence available |
GRCh38 GRCh37 |
11 | 98 | |
NEFL | No evidence available | No evidence available |
GRCh38 GRCh37 |
558 | 695 | |
PSD3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
65 | 163 | |
ADAM18 | - | - |
GRCh38 GRCh38 GRCh37 |
27 | 85 | |
ADAM2 | - | - |
GRCh38 GRCh38 GRCh37 |
22 | 80 | |
ADAM28 | - | - |
GRCh38 GRCh37 |
- | 121 | |
ADAM32 | - | - |
GRCh38 GRCh38 GRCh37 |
34 | 93 | |
ADAM7 | - | - |
GRCh38 GRCh37 |
- | 124 |
There are 919 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) |
|
Aug 2, 2011 | RCV000139796.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023