ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p13.3(chr1:108346477-110177123)x1
Germline
Classification
(1)
Uncertain significance
no assertion criteria provided
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 |
11 | 44 | |
GNAI3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
43 | 71 | |
AKNAD1 | - | - | - |
GRCh38 GRCh37 |
59 | 88 |
AMIGO1 | - | - |
GRCh38 GRCh37 |
20 | 39 | |
AMPD2 | - | - |
GRCh38 GRCh37 |
291 | 426 | |
ATXN7L2 | - | - | - |
GRCh38 GRCh37 |
36 | 55 |
CELSR2 | - | - |
GRCh38 GRCh37 |
433 | 483 | |
CFAP276 | - | - |
GRCh38 GRCh37 |
6 | 38 | |
CLCC1 | - | - |
GRCh38 GRCh37 |
284 | 346 | |
CYB561D1 | - | - | - |
GRCh38 GRCh37 |
15 | 35 |
There are 22 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) |
|
Mar 1, 2021 | RCV001827629.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023