ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p36.33(chr1:1013081-1722599)x1
Germline
Classification
(1)
Pathogenic
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 | |||
ACAP3 | - | - | - |
GRCh38 GRCh37 |
55 | 206 |
AGRN | - | - |
GRCh38 GRCh37 |
2079 | 2353 | |
ANKRD65 | - | - | - |
GRCh38 GRCh37 |
23 | 203 |
ANKRD65-AS1 | - | - | - | GRCh38 | - | 95 |
ATAD3A | - | - |
GRCh38 GRCh37 |
269 | 436 | |
ATAD3B | - | - |
GRCh38 GRCh37 |
90 | 263 | |
ATAD3C | - | - |
GRCh38 GRCh37 |
55 | 218 | |
AURKAIP1 | - | - |
GRCh38 GRCh37 |
11 | 157 | |
B3GALT6 | - | - |
GRCh38 GRCh37 |
327 | 479 | |
C1QTNF12 | - | - |
GRCh38 GRCh37 |
43 | 191 |
There are 129 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 18, 2010 | RCV000134145.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024