ClinVar Genomic variation as it relates to human health
NC_000016.9:g.(?_256302)_(1557737_?)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 | |||
TPSD1 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
32 | 95 | |
SOX8 | No evidence available | No evidence available |
GRCh38 GRCh37 |
68 | 132 | |
ANTKMT | - | - |
GRCh38 GRCh37 |
24 | 93 | |
ARHGDIG | - | - |
GRCh38 GRCh37 |
20 | 86 | |
AXIN1 | - | - |
GRCh38 GRCh37 |
83 | 155 | |
BAIAP3 | - | - |
GRCh38 GRCh37 |
136 | 196 | |
C1QTNF8 | - | - |
GRCh38 GRCh37 |
17 | 79 | |
CACNA1H | - | - |
GRCh38 GRCh37 |
3421 | 3485 | |
CAPN15 | - | - |
GRCh38 GRCh38 GRCh37 |
195 | 264 | |
CCDC154 | - | - |
GRCh38 GRCh37 |
69 | 125 |
There are 45 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Apr 7, 2023 | RCV004582850.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 30, 2024