ClinVar Genomic variation as it relates to human health
NC_000023.10:g.(?_99551275)_(101097764_?)dup
Germline
Classification
(2)
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 | |||
BTK | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
705 | 879 | |
GLA | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
6 | 1239 | |
PCDH19 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1173 | 1476 | |
TIMM8A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
59 | 232 | |
NXF5 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
77 | 235 | |
SRPX2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
165 | 338 | |
ARL13A | - | - | - |
GRCh38 GRCh37 |
- | 169 |
ARMCX1 | - | - |
GRCh38 GRCh37 |
16 | 175 | |
ARMCX2 | - | - |
GRCh38 GRCh37 |
27 | 186 | |
ARMCX3 | - | - |
GRCh38 GRCh37 |
8 | 168 |
There are 17 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 1, 2022 | RCV003109223.2 | |
Uncertain significance (1) |
|
Jun 27, 2022 | RCV003119228.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023