ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p36.33(chr1:854277-1165197)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
AGRN | - | - |
GRCh38 GRCh37 |
2095 | 2371 | |
C1orf159 | - | - | - |
GRCh38 GRCh37 |
5 | 152 |
HES4 | - | - |
GRCh38 GRCh37 |
9 | 170 | |
ISG15 | - | - |
GRCh38 GRCh37 |
137 | 279 | |
KLHL17 | - | - |
GRCh38 GRCh37 |
87 | 225 | |
MIR200A | - | - |
GRCh38 GRCh37 |
- | 148 | |
MIR200B | - | - |
GRCh38 GRCh37 |
- | 148 | |
MIR429 | - | - |
GRCh38 GRCh37 |
- | 148 | |
NOC2L | - | - |
GRCh38 GRCh37 |
79 | 217 | |
PLEKHN1 | - | - | - |
GRCh38 GRCh37 |
93 | 237 |
There are 6 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 26, 2018 | RCV000848570.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022