ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8p11.23-11.1(chr8:37972810-43837099)x3
Germline
Classification
(1)
Uncertain significance
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 |
992 | 1122 | |
KAT6A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1469 | 1526 | |
ADAM18 | - | - |
GRCh38 GRCh38 GRCh37 |
39 | 97 | |
ADAM2 | - | - |
GRCh38 GRCh38 GRCh37 |
49 | 107 | |
ADAM32 | - | - |
GRCh38 GRCh38 GRCh37 |
51 | 110 | |
ADAM9 | - | - |
GRCh38 GRCh38 GRCh37 |
478 | 560 | |
ANK1 | - | - |
GRCh38 GRCh37 |
995 | 1156 | |
AP3M2 | - | - |
GRCh38 GRCh37 |
21 | 75 | |
ASH2L | - | - |
GRCh38 GRCh37 |
21 | 90 | |
BAG4 | - | - |
GRCh38 GRCh37 |
31 | 99 |
There are 36 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV003986761.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024