ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q21.1(chr1:145038814-145747463)
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 | |||
ANKRD34A | - | - | - |
GRCh38 GRCh37 |
14 | 214 |
ANKRD35 | - | - | - |
GRCh38 GRCh37 |
60 | 259 |
CD160 | - | - |
GRCh38 GRCh37 |
6 | 219 | |
HJV | - | - |
GRCh38 GRCh37 |
379 | 564 | |
ITGA10 | - | - |
GRCh38 GRCh37 |
58 | 260 | |
LIX1L | - | - | - |
GRCh38 GRCh37 |
9 | 224 |
NBPF10 | - | - |
GRCh38 GRCh37 |
31 | 159 | |
NOTCH2NLA | - | - |
GRCh38 GRCh37 |
1 | 110 | |
NUDT17 | - | - | - |
GRCh38 GRCh37 |
13 | 216 |
PDE4DIP | - | - |
GRCh38 GRCh37 |
29 | 118 |
There are 8 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) |
|
- | RCV001807692.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024