ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7q22.1(chr7:99114000-101878272)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 | |||
CYP3A43 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
26 | 52 | |
ACHE | - | - |
GRCh38 GRCh37 |
31 | 54 | |
ACTL6B | - | - |
GRCh38 GRCh37 |
111 | 136 | |
AGFG2 | - | - |
GRCh38 GRCh37 |
26 | 51 | |
AP1S1 | - | - |
GRCh38 GRCh37 |
55 | 160 | |
AP4M1 | - | - |
GRCh38 GRCh37 |
400 | 483 | |
AZGP1 | - | - |
GRCh38 GRCh37 |
21 | 48 | |
CLDN15 | - | - |
GRCh38 GRCh37 |
10 | 34 | |
CNPY4 | - | - |
GRCh38 GRCh37 |
- | 42 | |
COL26A1 | - | - |
GRCh38 GRCh37 |
32 | 58 |
There are 65 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jul 9, 2022 | RCV003482971.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024