ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p34.2(chr1:40944820-42213560)x1
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 | |||
HIVEP3 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
89 | 103 | |
EXO5 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
43 | 59 | |
CITED4 | - | - |
GRCh38 GRCh37 |
24 | 43 | |
CTPS1 | - | - |
GRCh38 GRCh37 |
239 | 277 | |
EDN2 | - | - |
GRCh38 GRCh37 |
11 | 25 | |
FOXO6 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 15 | |
KCNQ4 | - | - |
GRCh38 GRCh37 |
373 | 393 | |
MIR30C1 | - | - |
GRCh38 GRCh37 |
- | 16 | |
NFYC | - | - |
GRCh38 GRCh37 |
7 | 23 | |
RIMS3 | - | - |
GRCh38 GRCh37 |
28 | 52 |
There are 4 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 |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Jan 20, 2016 | RCV000240178.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022