ClinVar Genomic variation as it relates to human health
NC_000005.9:g.(?_33944753)_(39364566_?)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 | |||
NIPBL | Sufficient evidence for dosage pathogenicity | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
1749 | 1803 | |
DNAJC21 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
329 | 386 | |
AGXT2 | - | - |
GRCh38 GRCh37 |
42 | 69 | |
AMACR | - | - |
GRCh38 GRCh37 |
2 | 436 | |
BRIX1 | - | - |
GRCh38 GRCh37 |
- | 46 | |
C1QTNF3 | - | - |
GRCh38 GRCh37 |
- | 53 | |
C9 | - | - |
GRCh38 GRCh37 |
315 | 340 | |
CAPSL | - | - |
GRCh38 GRCh37 |
19 | 44 | |
CPLANE1 | - | - |
GRCh38 GRCh37 |
2060 | 2174 | |
EGFLAM | - | - |
GRCh38 GRCh37 |
64 | 107 |
There are 24 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) |
|
Feb 20, 2022 | RCV003107632.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023