ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3
Germline
Classification
(1)
Likely 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 | |||
PCSK9 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
1275 | 1289 | |
FOXE3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 439 | |
ACOT11 | - | - |
GRCh38 GRCh37 |
50 | 136 | |
AGBL4 | - | - |
GRCh38 GRCh37 |
59 | 107 | |
BEND5 | - | - | - |
GRCh38 GRCh37 |
- | 37 |
BSND | - | - |
GRCh38 GRCh37 |
345 | 361 | |
BTF3L4 | - | - | - |
GRCh38 GRCh37 |
6 | 16 |
C1orf185 | - | - | - |
GRCh38 GRCh37 |
3 | 16 |
CC2D1B | - | - | - |
GRCh38 GRCh37 |
90 | 98 |
CDCP2 | - | - |
GRCh38 GRCh37 |
42 | 56 |
There are 64 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
- | RCV003986484.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024