ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p36.13(chr1:18127009-20315260)x3
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 | |||
ACTL8 | - | - | - |
GRCh38 GRCh37 |
20 | 45 |
AKR7A2 | - | - |
GRCh38 GRCh37 |
24 | 47 | |
AKR7A3 | - | - |
GRCh38 GRCh37 |
37 | 60 | |
AKR7L | - | - |
GRCh38 GRCh37 |
- | 23 | |
ALDH4A1 | - | - |
GRCh38 GRCh37 |
273 | 332 | |
CAPZB | - | - |
GRCh38 GRCh37 |
7 | 33 | |
EMC1 | - | - |
GRCh38 GRCh37 |
256 | 1173 | |
HTR6 | - | - |
GRCh38 GRCh37 |
36 | 60 | |
IFFO2 | - | - | - |
GRCh38 GRCh37 |
28 | 59 |
IGSF21 | - | - | - |
GRCh38 GRCh37 |
37 | 65 |
There are 14 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) |
|
Oct 6, 2022 | RCV003484009.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024