ClinVar Genomic variation as it relates to human health
NC_000019.9:g.(?_1456055)_(2456931_?)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 | |||
ABHD17A | - | - |
GRCh38 GRCh37 |
19 | 53 | |
ADAMTSL5 | - | - | - |
GRCh38 GRCh37 |
50 | 80 |
ADAT3 | - | - |
GRCh38 GRCh37 |
- | 141 | |
AMH | - | - |
GRCh38 GRCh37 |
140 | 185 | |
AP3D1 | - | - |
GRCh38 GRCh37 |
1141 | 1178 | |
APC2 | - | - |
GRCh38 GRCh37 |
773 | 860 | |
ATP8B3 | - | - |
GRCh38 GRCh37 |
133 | 184 | |
BTBD2 | - | - |
GRCh38 GRCh37 |
32 | 76 | |
C19orf25 | - | - | - |
GRCh38 GRCh37 |
2 | 36 |
CSNK1G2 | - | - |
GRCh38 GRCh37 |
14 | 52 |
There are 27 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 7, 2022 | RCV003122897.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 18, 2023