ClinVar Genomic variation as it relates to human health
NC_000001.11:g.(?_1020153)_(1313808_?)del
Germline
Classification
(1)
Pathogenic
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 | |||
ACAP3 | - | - | - |
GRCh38 GRCh37 |
62 | 214 |
AGRN | - | - |
GRCh38 GRCh37 |
2097 | 2373 | |
B3GALT6 | - | - |
GRCh38 GRCh37 |
334 | 488 | |
C1QTNF12 | - | - |
GRCh38 GRCh37 |
46 | 195 | |
C1orf159 | - | - | - |
GRCh38 GRCh37 |
5 | 152 |
INTS11 | - | - |
GRCh38 GRCh37 |
64 | 217 | |
LINC01342 | - | - | - | GRCh38 | - | 70 |
LINC01786 | - | - | - | GRCh38 | - | 68 |
LOC100288175 | - | - | - | GRCh38 | - | 74 |
LOC105378948 | - | - | - | GRCh38 | - | 74 |
There are 60 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 4, 2017 | RCV000651427.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024