ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3
Germline
Classification
(1)
Uncertain significance
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 |
992 | 1122 | |
KAT6A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1469 | 1526 | |
RB1CC1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
90 | 144 | |
NEFL | No evidence available | No evidence available |
GRCh38 GRCh37 |
574 | 711 | |
ADAM18 | - | - |
GRCh38 GRCh38 GRCh37 |
39 | 97 | |
ADAM2 | - | - |
GRCh38 GRCh38 GRCh37 |
49 | 107 | |
ADAM32 | - | - |
GRCh38 GRCh38 GRCh37 |
51 | 110 | |
ADAM9 | - | - |
GRCh38 GRCh38 GRCh37 |
478 | 560 | |
ADGRA2 | - | - |
GRCh38 GRCh37 |
100 | 186 | |
ADRA1A | - | - |
GRCh38 GRCh37 |
37 | 117 |
There are 125 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 |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
- | RCV000446588.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024