ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3
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 |
958 | 1085 | |
KAT6A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1417 | 1471 | |
CHMP7 | No evidence available | No evidence available |
GRCh38 GRCh37 |
15 | 102 | |
NEFL | No evidence available | No evidence available |
GRCh38 GRCh37 |
564 | 701 | |
PSD3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
74 | 172 | |
ADAM18 | - | - |
GRCh38 GRCh38 GRCh37 |
35 | 93 | |
ADAM2 | - | - |
GRCh38 GRCh38 GRCh37 |
38 | 96 | |
ADAM28 | - | - |
GRCh38 GRCh37 |
- | 137 | |
ADAM32 | - | - |
GRCh38 GRCh38 GRCh37 |
48 | 107 | |
ADAM7 | - | - |
GRCh38 GRCh37 |
- | 139 |
There are 168 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) |
|
Aug 24, 2022 | RCV003484725.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024