ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q23.3-31.1(chr5:127800418-134002686)
Germline
Classification
(1)
Pathogenic
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 | |||
FBN2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
3061 | 3178 | |
ACSL6 | - | - |
GRCh38 GRCh37 |
30 | 49 | |
ADAMTS19 | - | - |
GRCh38 GRCh37 |
89 | 112 | |
AFF4 | - | - |
GRCh38 GRCh37 |
472 | 490 | |
C5orf15 | - | - | - |
GRCh38 GRCh37 |
5 | 25 |
CCNI2 | - | - |
GRCh38 GRCh37 |
9 | 46 | |
CDC42SE2 | - | - |
GRCh38 GRCh37 |
2 | 22 | |
CDKL3 | - | - |
GRCh38 GRCh37 |
30 | 51 | |
CDKN2AIPNL | - | - | - |
GRCh38 GRCh37 |
6 | 27 |
CHSY3 | - | - |
GRCh38 GRCh37 |
65 | 87 |
There are 36 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 |
---|---|---|---|---|
Pathogenic (1) |
|
May 26, 2023 | RCV003236718.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 15, 2024