ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p34.3(chr1:35950860-36635695)
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 | |||
ADPRS | - | - |
GRCh38 GRCh37 |
60 | 73 | |
AGO1 | - | - |
GRCh38 GRCh37 |
77 | 100 | |
AGO3 | - | - |
GRCh38 GRCh37 |
39 | 57 | |
AGO4 | - | - |
GRCh38 GRCh37 |
29 | 43 | |
C1orf216 | - | - | - |
GRCh38 GRCh37 |
2 | 16 |
CLSPN | - | - |
GRCh38 GRCh37 |
58 | 75 | |
COL8A2 | - | - |
GRCh38 GRCh37 |
100 | 122 | |
KIAA0319L | - | - |
GRCh38 GRCh37 |
55 | 70 | |
MAP7D1 | - | - | - |
GRCh38 GRCh37 |
53 | 75 |
NCDN | - | - |
GRCh38 GRCh37 |
66 | 80 |
There are 4 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) |
|
Mar 1, 2022 | RCV002053225.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022