ClinVar Genomic variation as it relates to human health
NC_000023.10:g.(?_53222149)_(54497940_?)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 | |||
FGD1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
320 | 517 | |
IQSEC2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1140 | 1296 | |
KDM5C | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
716 | 881 | |
PHF8 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
193 | 342 | |
SMC1A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
900 | 1064 | |
HSD17B10 | No evidence available | No evidence available |
GRCh38 GRCh37 |
163 | 319 | |
HUWE1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1280 | 1513 | |
FAM120C | - | - |
GRCh38 GRCh37 |
29 | 175 | |
MIR98 | - | - |
GRCh38 GRCh37 |
- | 158 | |
MIRLET7F2 | - | - |
GRCh38 GRCh37 |
- | 158 |
There are 3 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 23, 2022 | RCV001920511.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023