ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q26.1(chr15:89976407-90387346)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 | |||
ANPEP | - | - |
GRCh38 GRCh37 |
58 | 113 | |
AP3S2 | - | - |
GRCh38 GRCh37 |
- | 52 | |
ARPIN-AP3S2 | - | - | - |
GRCh38 GRCh37 |
- | 75 |
KIF7 | - | - |
GRCh38 GRCh37 |
1265 | 1524 | |
LINC00928 | - | - | - |
GRCh38 GRCh37 |
- | 38 |
MESP1 | - | - |
GRCh38 GRCh37 |
10 | 146 | |
MESP2 | - | - |
GRCh38 GRCh37 |
384 | 516 | |
PEX11A | - | - |
GRCh38 GRCh37 |
27 | 71 | |
PLIN1 | - | - |
GRCh38 GRCh37 |
96 | 152 | |
RHCG | - | - |
GRCh38 GRCh37 |
34 | 72 |
There are 2 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) |
|
Nov 28, 2022 | RCV003483247.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024