ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16p13.3(chr16:29941-2560460)x3
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 | |||
PKD1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
3044 | 3549 | |
TSC2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
10386 | 10575 | |
TPSD1 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
26 | 91 | |
SOX8 | No evidence available | No evidence available |
GRCh38 GRCh37 |
62 | 130 | |
ABCA3 | - | - |
GRCh38 GRCh37 |
1517 | 1569 | |
AMDHD2 | - | - | - |
GRCh38 GRCh37 |
18 | 79 |
ANTKMT | - | - |
GRCh38 GRCh37 |
7 | 94 | |
ARHGDIG | - | - |
GRCh38 GRCh37 |
13 | 87 | |
ATP6V0C | - | - |
GRCh38 GRCh37 |
21 | 68 | |
AXIN1 | - | - |
GRCh38 GRCh37 |
68 | 141 |
There are 348 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000052368.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023