ClinVar Genomic variation as it relates to human health
NC_000016.9:g.(?_624055)_(2153916_?)dup
Germline
Classification
(2)
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 | |||
PKD1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
3292 | 3820 | |
TSC2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
10660 | 10854 | |
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 | |
BAIAP3 | - | - |
GRCh38 GRCh37 |
136 | 196 | |
C1QTNF8 | - | - |
GRCh38 GRCh37 |
17 | 79 | |
CACNA1H | - | - |
GRCh38 GRCh37 |
3421 | 3485 | |
CCDC154 | - | - |
GRCh38 GRCh37 |
69 | 125 | |
CCDC78 | - | - |
GRCh38 GRCh37 |
557 | 619 |
There are 63 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) |
|
Jan 27, 2020 | RCV001316565.1 | |
Uncertain significance (1) |
|
Jan 27, 2020 | RCV001344085.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 15, 2024