ClinVar Genomic variation as it relates to human health
NC_000007.13:g.(?_102937907)_(107643330_?)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 | |||
KMT2E | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
879 | 909 | |
RELN | No evidence available | No evidence available |
GRCh38 GRCh37 |
2675 | 3496 | |
ATXN7L1 | - | - | - |
GRCh38 GRCh37 |
48 | 74 |
BCAP29 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 26 | |
CBLL1 | - | - |
GRCh38 GRCh37 |
12 | 34 | |
CCDC71L | - | - | - |
GRCh38 GRCh37 |
9 | 44 |
CDHR3 | - | - |
GRCh38 GRCh37 |
68 | 88 | |
COG5 | - | - |
GRCh38 GRCh38 GRCh37 |
769 | 893 | |
DLD | - | - |
GRCh38 GRCh37 |
625 | 660 | |
DNAJC2 | - | - |
GRCh38 GRCh37 |
- | 57 |
There are 18 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) |
|
Dec 7, 2023 | RCV003113939.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 10, 2024