ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)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 |
956 | 1083 | |
KAT6A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1406 | 1460 | |
ADAM18 | - | - |
GRCh38 GRCh38 GRCh37 |
27 | 85 | |
ADAM2 | - | - |
GRCh38 GRCh38 GRCh37 |
22 | 80 | |
ADAM32 | - | - |
GRCh38 GRCh38 GRCh37 |
34 | 93 | |
ADAM9 | - | - |
GRCh38 GRCh38 GRCh37 |
466 | 548 | |
ADGRA2 | - | - |
GRCh38 GRCh37 |
77 | 159 | |
ADRB3 | - | - |
GRCh38 GRCh37 |
25 | 88 | |
ANK1 | - | - |
GRCh38 GRCh37 |
947 | 1099 | |
AP3M2 | - | - |
GRCh38 GRCh37 |
11 | 63 |
There are 409 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 | RCV000050995.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023