ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4p15.33-15.2(chr4:13529798-22750583)x1
Germline
Classification
(1)
Uncertain significance
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 | |
BOD1L1 | - | - |
GRCh38 GRCh37 |
197 | 262 | |
BST1 | - | - |
GRCh38 GRCh37 |
28 | 79 | |
C1QTNF7 | - | - | - |
GRCh38 GRCh37 |
18 | 71 |
CC2D2A | - | - |
GRCh38 GRCh37 |
2020 | 2074 | |
CD38 | - | - |
GRCh38 GRCh37 |
15 | 68 | |
CLRN2 | - | - |
GRCh38 GRCh37 |
21 | 71 | |
CPEB2 | - | - |
GRCh38 GRCh38 GRCh37 |
28 | 133 | |
DCAF16 | - | - |
GRCh38 GRCh37 |
15 | 65 | |
FAM184B | - | - |
GRCh38 GRCh37 |
63 | 126 |
There are 17 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 1, 2018 | RCV000998337.17 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 17, 2024