ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8p12-11.23(chr8:36486830-37992515)x1
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 | |||
ADGRA2 | - | - |
GRCh38 GRCh37 |
91 | 177 | |
ADRB3 | - | - |
GRCh38 GRCh37 |
31 | 94 | |
ASH2L | - | - |
GRCh38 GRCh37 |
21 | 90 | |
BRF2 | - | - |
GRCh38 GRCh37 |
12 | 97 | |
EIF4EBP1 | - | - |
GRCh38 GRCh37 |
4 | 69 | |
ERLIN2 | - | - |
GRCh38 GRCh37 |
165 | 228 | |
GOT1L1 | - | - | - |
GRCh38 GRCh37 |
24 | 88 |
KCNU1 | - | - |
GRCh38 GRCh37 |
74 | 132 | |
PLPBP | - | - |
GRCh38 GRCh37 |
197 | 303 | |
RAB11FIP1 | - | - |
GRCh38 GRCh37 |
81 | 150 |
There is 1 more gene affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Oct 8, 2018 | RCV000790586.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022