ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3q13.2-13.32(chr3:113233952-118525556)x1
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 | |||
ATP6V1A | - | - |
GRCh38 GRCh37 |
292 | 323 | |
CCDC191 | - | - | - |
GRCh38 GRCh37 |
35 | 89 |
DRD3 | - | - |
GRCh38 GRCh37 |
52 | 86 | |
GAP43 | - | - |
GRCh38 GRCh37 |
17 | 51 | |
GRAMD1C | - | - | - |
GRCh38 GRCh37 |
39 | 75 |
LSAMP | - | - |
GRCh38 GRCh37 |
16 | 46 | |
NAA50 | - | - |
GRCh38 GRCh37 |
9 | 39 | |
QTRT2 | - | - | - |
GRCh38 GRCh37 |
4 | 37 |
SIDT1 | - | - |
GRCh38 GRCh37 |
51 | 84 | |
SPICE1 | - | - |
GRCh38 GRCh37 |
- | 93 |
There are 5 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Nov 2, 2019 | RCV001194596.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022