ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8p11.22-11.21(chr8:38430146-41294984)
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 | |||
ADAM18 | - | - |
GRCh38 GRCh38 GRCh37 |
35 | 93 | |
ADAM2 | - | - |
GRCh38 GRCh38 GRCh37 |
38 | 96 | |
ADAM32 | - | - |
GRCh38 GRCh38 GRCh37 |
48 | 107 | |
ADAM9 | - | - |
GRCh38 GRCh38 GRCh37 |
475 | 557 | |
HTRA4 | - | - |
GRCh38 GRCh37 |
22 | 92 | |
IDO1 | - | - |
GRCh38 GRCh37 |
20 | 78 | |
IDO2 | - | - |
GRCh38 GRCh37 |
38 | 100 | |
PLEKHA2 | - | - |
GRCh38 GRCh37 |
18 | 81 | |
SFRP1 | - | - |
GRCh38 GRCh37 |
18 | 74 | |
TACC1 | - | - |
GRCh38 GRCh37 |
58 | 124 |
There are 3 more genes 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 1, 2022 | RCV002053759.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022