ClinVar Genomic variation as it relates to human health
NC_000009.11:g.(?_32453279)_(37785041_?)dup
Germline
Classification
(6)
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 | |||
PAX5 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
152 | 255 | |
ANKRD18B | - | - |
GRCh38 GRCh37 |
1 | 71 | |
APTX | - | - |
GRCh38 GRCh37 |
285 | 353 | |
AQP3 | - | - |
GRCh38 GRCh37 |
9 | 81 | |
AQP7 | - | - |
GRCh38 GRCh37 |
5 | 80 | |
ARHGEF39 | - | - | - |
GRCh38 GRCh37 |
24 | 115 |
ARID3C | - | - | - |
GRCh38 GRCh37 |
24 | 99 |
ATOSB | - | - |
GRCh38 GRCh37 |
39 | 112 | |
B4GALT1 | - | - |
GRCh38 GRCh37 |
95 | 188 | |
BAG1 | - | - |
GRCh38 GRCh37 |
11 | 102 |
There are 79 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 |
---|---|---|---|---|
no classifications from unflagged records (1) |
|
- | RCV003109230.6 | |
no classifications from unflagged records (1) |
|
- | RCV003109231.6 | |
no classifications from unflagged records (1) |
|
- | RCV003119439.6 | |
no classifications from unflagged records (1) |
|
- | RCV003119438.6 | |
no classifications from unflagged records (1) |
|
- | RCV003119437.6 | |
Uncertain significance (1) |
|
Jul 12, 2022 | RCV003154083.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024