ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q43(chr1:239786185-242208644)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 | |||
FH | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1967 | 2051 | |
CHRM3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
76 | 147 | |
CHML | - | - |
GRCh38 GRCh37 |
- | 124 | |
EXO1 | - | - |
GRCh38 GRCh37 |
75 | 158 | |
FMN2 | - | - |
GRCh38 GRCh37 |
403 | 486 | |
GREM2 | - | - |
GRCh38 GRCh37 |
15 | 86 | |
KMO | - | - |
GRCh38 GRCh37 |
23 | 101 | |
MAP1LC3C | - | - |
GRCh38 GRCh37 |
6 | 86 | |
OPN3 | - | - |
GRCh38 GRCh37 |
16 | 141 | |
RGS7 | - | - |
GRCh38 GRCh37 |
26 | 105 |
There is 1 more gene 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) |
|
- | RCV003986406.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024