ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q22.1(chr7:99195836-100348063)x3
Germline
Classification
(1)
Likely benign
no assertion criteria provided
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 | |||
CYP3A43 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
26 | 52 | |
AP4M1 | - | - |
GRCh38 GRCh37 |
400 | 483 | |
ARPC1A | - | - |
GRCh38 GRCh37 |
16 | 38 | |
ARPC1B | - | - |
GRCh38 GRCh37 |
291 | 316 | |
ATP5MF | - | - |
GRCh38 GRCh37 |
- | 28 | |
ATP5MF-PTCD1 | - | - | - |
GRCh38 GRCh37 |
- | 111 |
AZGP1 | - | - |
GRCh38 GRCh37 |
21 | 48 | |
BUD31 | - | - |
GRCh38 GRCh37 |
3 | 30 | |
CNPY4 | - | - |
GRCh38 GRCh37 |
- | 42 | |
COPS6 | - | - |
GRCh38 GRCh37 |
3 | 38 |
There are 116 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 |
---|---|---|---|---|
Likely benign (1) |
|
Jan 27, 2011 | RCV000135630.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024