ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p36.33(chr1:914086-1538895)x1
Germline
Classification
(1)
Likely 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 |
62 | 214 |
AGRN | - | - |
GRCh38 GRCh37 |
2097 | 2373 | |
ANKRD65 | - | - | - |
GRCh38 GRCh37 |
28 | 212 |
ANKRD65-AS1 | - | - | - | GRCh38 | - | 97 |
ATAD3A | - | - |
GRCh38 GRCh37 |
288 | 458 | |
ATAD3B | - | - |
GRCh38 GRCh37 |
103 | 279 | |
ATAD3C | - | - |
GRCh38 GRCh37 |
65 | 230 | |
AURKAIP1 | - | - |
GRCh38 GRCh37 |
12 | 160 | |
B3GALT6 | - | - |
GRCh38 GRCh37 |
335 | 489 | |
C1QTNF12 | - | - |
GRCh38 GRCh37 |
46 | 195 |
There are 128 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 |
---|---|---|---|---|
See cases
|
Likely pathogenic (1) |
|
Jul 18, 2014 | RCV000142178.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024