ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8p11.23-11.21(chr8:37899430-42371734)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 |
960 | 1088 | |
KAT6A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1417 | 1471 | |
ADAM18 | - | - |
GRCh38 GRCh38 GRCh37 |
35 | 93 | |
ADAM2 | - | - |
GRCh38 GRCh38 GRCh37 |
38 | 96 | |
ADAM32 | - | - |
GRCh38 GRCh38 GRCh37 |
48 | 107 | |
ADAM9 | - | - |
GRCh38 GRCh38 GRCh37 |
473 | 555 | |
ADRB3 | - | - |
GRCh38 GRCh37 |
31 | 94 | |
ANK1 | - | - |
GRCh38 GRCh37 |
957 | 1114 | |
AP3M2 | - | - |
GRCh38 GRCh37 |
17 | 69 | |
ASH2L | - | - |
GRCh38 GRCh37 |
21 | 90 |
There are 172 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 12, 2011 | RCV000053648.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023