ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p21.1-13.3(chr1:106074587-110144290)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 | |||
TAF13 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
12 | 45 | |
GNAI3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
44 | 72 | |
AHCYL1 | - | - |
GRCh38 GRCh37 |
7 | 29 | |
AKNAD1 | - | - | - |
GRCh38 GRCh37 |
59 | 88 |
ALX3 | - | - |
GRCh38 GRCh37 |
64 | 83 | |
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 |
There are 140 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053881.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024