ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p13.3(chr16:85880-3216551)x3
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 |
3475 | 4027 | |
TSC2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
10719 | 10914 | |
TPSD1 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
40 | 103 | |
SOX8 | No evidence available | No evidence available |
GRCh38 GRCh37 |
73 | 137 | |
ABCA3 | - | - |
GRCh38 GRCh37 |
1573 | 1624 | |
AMDHD2 | - | - | - |
GRCh38 GRCh37 |
24 | 89 |
ANTKMT | - | - |
GRCh38 GRCh37 |
26 | 95 | |
ARHGDIG | - | - |
GRCh38 GRCh37 |
22 | 88 | |
ATP6V0C | - | - |
GRCh38 GRCh37 |
24 | 69 | |
AXIN1 | - | - |
GRCh38 GRCh37 |
92 | 164 |
There are 131 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) |
|
Aug 3, 2017 | RCV000683742.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023