ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3q28-29(chr3:189608636-197532175)x1
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 | |||
PAK2 | Little evidence for dosage pathogenicity | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
19 | 123 | |
FGF12 | No evidence available | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
239 | 289 | |
TP63 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
685 | 746 | |
ACAP2 | - | - |
GRCh38 GRCh37 |
18 | 63 | |
APOD | - | - |
GRCh38 GRCh37 |
16 | 62 | |
ATP13A3 | - | - |
GRCh38 GRCh37 |
154 | 210 | |
ATP13A4 | - | - |
GRCh38 GRCh37 |
100 | 143 | |
ATP13A5 | - | - |
GRCh38 GRCh37 |
49 | 107 | |
BDH1 | - | - |
GRCh38 GRCh38 GRCh37 |
44 | 147 | |
CCDC50 | - | - |
GRCh38 GRCh37 |
209 | 281 |
There are 48 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) |
|
Nov 4, 2021 | RCV001786535.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 02, 2023