ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1
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 | |||
TRRAP | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1628 | 1700 | |
CYP3A43 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
26 | 52 | |
NPTX2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
32 | 49 | |
ACTL6B | - | - |
GRCh38 GRCh37 |
110 | 135 | |
AGFG2 | - | - |
GRCh38 GRCh37 |
26 | 51 | |
AP4M1 | - | - |
GRCh38 GRCh37 |
400 | 483 | |
ARPC1A | - | - |
GRCh38 GRCh37 |
16 | 38 | |
ARPC1B | - | - |
GRCh38 GRCh37 |
291 | 316 | |
ATP5MF | - | - |
GRCh38 GRCh37 |
- | 28 | |
ATP5MF-PTCD1 | - | - | - |
GRCh38 GRCh37 |
- | 111 |
There are 221 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 24, 2023 | RCV003327701.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024