ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2p14-13.3(chr2:65296579-71305638)x1
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 | |||
AAK1 | - | - |
GRCh38 GRCh37 |
29 | 51 | |
ACTR2 | - | - |
GRCh38 GRCh37 |
8 | 25 | |
ADD2 | - | - |
GRCh38 GRCh37 |
29 | 47 | |
ANKRD53 | - | - |
GRCh38 GRCh37 |
52 | 67 | |
ANTXR1 | - | - |
GRCh38 GRCh37 |
153 | 166 | |
ANXA4 | - | - |
GRCh38 GRCh37 |
22 | 37 | |
APLF | - | - |
GRCh38 GRCh37 |
30 | 47 | |
ARHGAP25 | - | - |
GRCh38 GRCh37 |
28 | 42 | |
ASPRV1 | - | - |
GRCh38 GRCh37 |
14 | 40 | |
ATP6V1B1 | - | - |
GRCh38 GRCh37 |
627 | 688 |
There are 35 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 1, 2023 | RCV003223077.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024