ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10q22.3-23.1(chr10:81028088-82059110)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 | |||
ANXA11 | - | - |
GRCh38 GRCh37 |
296 | 384 | |
EIF5AL1 | - | - | - |
GRCh38 GRCh37 |
9 | 23 |
MAT1A | - | - |
GRCh38 GRCh37 |
317 | 407 | |
NUTM2B | - | - | - |
GRCh38 GRCh37 |
- | 27 |
PLAC9 | - | - |
GRCh38 GRCh37 |
7 | 59 | |
PPIF | - | - |
GRCh38 GRCh37 |
10 | 31 | |
SFTPA1 | - | - |
GRCh38 GRCh37 |
79 | 97 | |
SFTPA2 | - | - |
GRCh38 GRCh37 |
79 | 97 | |
SFTPD | - | - |
GRCh38 GRCh37 |
32 | 83 | |
TMEM254 | - | - | - |
GRCh38 GRCh37 |
12 | 64 |
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) |
|
Jul 9, 2019 | RCV001258449.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022