ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4p15.33-15.1(chr4:12778849-27760141)
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 | |||
ADGRA3 | - | - |
GRCh38 GRCh37 |
930 | 967 | |
ANAPC4 | - | - |
GRCh38 GRCh37 |
29 | 61 | |
BOD1L1 | - | - |
GRCh38 GRCh37 |
197 | 261 | |
BST1 | - | - |
GRCh38 GRCh37 |
28 | 79 | |
C1QTNF7 | - | - | - |
GRCh38 GRCh37 |
18 | 71 |
CC2D2A | - | - |
GRCh38 GRCh37 |
2008 | 2062 | |
CCDC149 | - | - | - |
GRCh38 GRCh37 |
29 | 61 |
CCKAR | - | - |
GRCh38 GRCh37 |
29 | 61 | |
CD38 | - | - |
GRCh38 GRCh37 |
15 | 68 | |
CLRN2 | - | - |
GRCh38 GRCh37 |
21 | 71 |
There are 34 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 1, 2018 | RCV000767707.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023