ClinVar Genomic variation as it relates to human health
NC_000016.9:g.(?_765584)_(1204036_?)del
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 | |||
SOX8 | No evidence available | No evidence available |
GRCh38 GRCh37 |
73 | 137 | |
ANTKMT | - | - |
GRCh38 GRCh37 |
26 | 95 | |
C1QTNF8 | - | - |
GRCh38 GRCh37 |
22 | 84 | |
CACNA1H | - | - |
GRCh38 GRCh37 |
3436 | 3500 | |
CCDC78 | - | - |
GRCh38 GRCh37 |
558 | 620 | |
CHTF18 | - | - |
GRCh38 GRCh37 |
149 | 217 | |
CIAO3 | - | - |
GRCh38 GRCh37 |
49 | 111 | |
GNG13 | - | - |
GRCh38 GRCh37 |
7 | 74 | |
HAGHL | - | - | - |
GRCh38 GRCh37 |
23 | 96 |
LMF1 | - | - |
GRCh38 GRCh37 |
502 | 640 |
There are 5 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) |
|
Nov 16, 2017 | RCV001352399.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 15, 2024