ClinVar Genomic variation as it relates to human health
NC_000002.11:g.(?_231033840)_(234978657_?)dup
Germline
Classification
(2)
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 | |||
DIS3L2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2266 | 2309 | |
GIGYF2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
126 | 387 | |
SPP2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
180 | 224 | |
ALPG | - | - |
GRCh38 GRCh37 |
11 | 64 | |
ALPI | - | - |
GRCh38 GRCh37 |
53 | 91 | |
ALPP | - | - |
GRCh38 GRCh37 |
52 | 90 | |
ARMC9 | - | - |
GRCh38 GRCh37 |
606 | 671 | |
ATG16L1 | - | - |
GRCh38 GRCh38 GRCh37 |
25 | 66 | |
B3GNT7 | - | - |
GRCh38 GRCh37 |
9 | 46 | |
C2orf72 | - | - | - |
GRCh38 GRCh37 |
3 | 31 |
There are 46 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 19, 2022 | RCV001877690.4 | |
Uncertain significance (1) |
|
Sep 19, 2022 | RCV001877689.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023