ClinVar Genomic variation as it relates to human health
NC_000001.10:g.(?_149895434)_(156851434_?)dup
Germline
Classification
(4)
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 | |||
ASH1L | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
543 | 570 | |
FLG | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2 | 1268 | |
GATAD2B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
522 | 543 | |
LMNA | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1826 | 2104 | |
POGZ | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
629 | 647 | |
SF3B4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
107 | 126 | |
ADAM15 | - | - |
GRCh38 GRCh37 |
- | 86 | |
ADAMTSL4 | - | - |
GRCh38 GRCh37 |
421 | 1244 | |
ADAR | - | - |
GRCh38 GRCh37 |
1236 | 1383 | |
ANP32E | - | - |
GRCh38 GRCh37 |
5 | 20 |
There are 220 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) |
|
Jan 27, 2024 | RCV001958271.12 | |
Uncertain significance (1) |
|
Mar 25, 2021 | RCV001958273.12 | |
Uncertain significance (1) |
|
Mar 25, 2021 | RCV001992607.12 | |
Uncertain significance (1) |
|
Jan 27, 2024 | RCV003120769.11 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 29, 2024