ClinVar Genomic variation as it relates to human health
NC_000016.9:g.(?_69680960)_(72146396_?)dup
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 | |||
AARS1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1392 | 1434 | |
AP1G1 | - | - |
GRCh38 GRCh37 |
58 | 97 | |
ATXN1L | - | - |
GRCh38 GRCh37 |
48 | 86 | |
CALB2 | - | - |
GRCh38 GRCh38 GRCh37 |
18 | 58 | |
CHST4 | - | - | - |
GRCh38 GRCh37 |
25 | 67 |
CLEC18A | - | - |
GRCh38 GRCh37 |
31 | 67 | |
CLEC18C | - | - |
GRCh38 GRCh37 |
20 | 57 | |
CMTR2 | - | - |
GRCh38 GRCh38 GRCh37 |
34 | 72 | |
COG4 | - | - |
GRCh38 GRCh37 |
324 | 373 | |
DDX19A | - | - | - |
GRCh38 GRCh37 |
17 | 58 |
There are 29 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Nov 27, 2020 | RCV001950695.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022