ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q42.13(chr1:228215364-229747702)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 | |||
ABCB10 | - | - |
GRCh38 GRCh37 |
31 | 81 | |
ACTA1 | - | - |
GRCh38 GRCh37 |
514 | 558 | |
ARF1 | - | - |
GRCh38 GRCh37 |
1 | 68 | |
BTNL10 | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 45 |
C1orf35 | - | - | - |
GRCh38 GRCh37 |
2 | 45 |
CCSAP | - | - |
GRCh38 GRCh37 |
7 | 50 | |
GJC2 | - | - |
GRCh38 GRCh37 |
325 | 368 | |
GUK1 | - | - |
GRCh38 GRCh37 |
16 | 62 | |
H2AC25 | - | - |
GRCh38 GRCh38 GRCh37 |
10 | 49 | |
H2BC26 | - | - |
GRCh38 GRCh38 GRCh37 |
10 | 49 |
There are 13 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) |
|
- | RCV003986606.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024