ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q31.1-31.2(chr2:177542722-179538238)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
TTN | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
11725 | 31212 | |
AGPS | - | - |
GRCh38 GRCh37 |
653 | 772 | |
FKBP7 | - | - |
GRCh38 GRCh37 |
16 | 48 | |
HNRNPA3 | - | - |
GRCh38 GRCh37 |
3 | 33 | |
NFE2L2 | - | - |
GRCh38 GRCh37 |
270 | 322 | |
OSBPL6 | - | - |
GRCh38 GRCh37 |
45 | 76 | |
PDE11A | - | - |
GRCh38 GRCh37 |
138 | 211 | |
PJVK | - | - |
GRCh38 GRCh37 |
247 | 284 | |
PLEKHA3 | - | - |
GRCh38 GRCh37 |
7 | 41 | |
PRKRA | - | - |
GRCh38 GRCh37 |
108 | 203 |
There are 3 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 23, 2019 | RCV001258562.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 05, 2022