ClinVar Genomic variation as it relates to human health
NC_000016.9:g.(?_89556653)_(89851392_?)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 | |||
ANKRD11 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2420 | 2584 | |
CDK10 | - | - |
GRCh38 GRCh37 |
83 | 159 | |
CHMP1A | - | - |
GRCh38 GRCh37 |
198 | 274 | |
CPNE7 | - | - |
GRCh38 GRCh37 |
66 | 137 | |
DPEP1 | - | - |
GRCh38 GRCh37 |
19 | 92 | |
FANCA | - | - |
GRCh38 GRCh37 |
4078 | 5204 | |
RPL13 | - | - |
GRCh38 GRCh37 |
25 | 93 | |
SPATA2L | - | - | - |
GRCh38 GRCh37 |
33 | 100 |
SPATA33 | - | - |
GRCh38 GRCh37 |
16 | 91 | |
SPG7 | - | - |
GRCh38 GRCh37 |
915 | 1076 |
There are 2 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) |
|
Mar 4, 2022 | RCV003119374.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023