ClinVar Genomic variation as it relates to human health
NC_000016.9:g.(?_624055)_(2550979_?)dup
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 | |||
PKD1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
3121 | 3620 | |
TSC2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
10489 | 10664 | |
TPSD1 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
25 | 86 | |
SOX8 | No evidence available | No evidence available |
GRCh38 GRCh37 |
60 | 121 | |
ABCA3 | - | - |
GRCh38 GRCh37 |
1517 | 1566 | |
ANTKMT | - | - |
GRCh38 GRCh37 |
7 | 73 | |
BAIAP3 | - | - |
GRCh38 GRCh37 |
102 | 159 | |
BRICD5 | - | - | - |
GRCh38 GRCh37 |
15 | 64 |
C1QTNF8 | - | - |
GRCh38 GRCh37 |
13 | 72 | |
CACNA1H | - | - |
GRCh38 GRCh37 |
3392 | 3453 |
There are 78 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) |
|
Aug 14, 2019 | RCV001033790.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023