ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p13.3(chr1:109371874-109906234)x3
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 | |||
TAF13 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
14 | 47 | |
AKNAD1 | - | - | - |
GRCh38 GRCh37 |
62 | 91 |
CELSR2 | - | - |
GRCh38 GRCh37 |
463 | 515 | |
CFAP276 | - | - |
GRCh38 GRCh37 |
6 | 38 | |
CLCC1 | - | - |
GRCh38 GRCh37 |
284 | 347 | |
ELAPOR1 | - | - |
GRCh38 GRCh37 |
68 | 108 | |
GPSM2 | - | - |
GRCh38 GRCh37 |
226 | 303 | |
MYBPHL | - | - |
GRCh38 GRCh37 |
59 | 82 | |
PSRC1 | - | - |
GRCh38 GRCh37 |
24 | 47 | |
SARS1 | - | - |
GRCh38 GRCh37 |
26 | 69 |
There are 3 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 21, 2021 | RCV002474707.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022