ClinVar Genomic variation as it relates to human health
NC_000017.10:g.(?_26684694)_(29701173_?)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 | |||
NF1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
14083 | 14520 | |
TAOK1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
167 | 180 | |
CRYBA1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
72 | 86 | |
RNF135 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
91 | 153 | |
SLC6A4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
124 | 145 | |
ABHD15 | - | - |
GRCh38 GRCh37 |
26 | 52 | |
ADAP2 | - | - |
GRCh38 GRCh38 GRCh37 |
25 | 87 | |
ALDOC | - | - |
GRCh38 GRCh37 |
25 | 36 | |
ANKRD13B | - | - |
GRCh38 GRCh37 |
30 | 41 | |
ATAD5 | - | - |
GRCh38 GRCh37 |
132 | 193 |
There are 46 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) |
|
Aug 7, 2022 | RCV003123018.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024