ClinVar Genomic variation as it relates to human health
NC_000009.11:g.(?_140040158)_(141016451_?)del
Germline
Classification
(2)
Conflicting classifications of pathogenicity
Pathogenic(1); Uncertain significance(1)
Pathogenic(1); Uncertain significance(1)
criteria provided, conflicting classifications
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 | |||
EHMT1 | Sufficient evidence for dosage pathogenicity | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
2074 | 2384 | |
ANAPC2 | - | - |
GRCh38 GRCh37 |
38 | 138 | |
ARRDC1 | - | - |
GRCh38 GRCh37 |
45 | 205 | |
CACNA1B | - | - |
GRCh38 GRCh37 |
1398 | 1688 | |
CIMIP2A | - | - | - |
GRCh38 GRCh37 |
54 | 156 |
CYSRT1 | - | - | - |
GRCh38 GRCh37 |
19 | 118 |
DPH7 | - | - |
GRCh38 GRCh37 |
36 | 177 | |
ENTPD8 | - | - |
GRCh38 GRCh37 |
64 | 170 | |
EXD3 | - | - |
GRCh38 GRCh37 |
114 | 221 | |
GRIN1 | - | - |
GRCh38 GRCh37 |
1032 | 1132 |
There are 20 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) |
|
Oct 25, 2022 | RCV003109674.5 | |
Pathogenic (1) |
|
Oct 25, 2022 | RCV003116549.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024