ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p34.3-34.2(chr1:39360747-40900817)x3
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 | |||
EXO5 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
42 | 57 | |
COL9A2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
985 | 1041 | |
BMP8A | - | - | - |
GRCh38 GRCh37 |
35 | 48 |
BMP8B | - | - |
GRCh38 GRCh37 |
28 | 89 | |
CAP1 | - | - |
GRCh38 GRCh37 |
19 | 34 | |
CITED4 | - | - |
GRCh38 GRCh37 |
24 | 43 | |
EXO5-DT | - | - | - | GRCh38 | - | 31 |
HEYL | - | - |
GRCh38 GRCh37 |
26 | 39 | |
HPCAL4 | - | - |
GRCh38 GRCh37 |
9 | 23 | |
KCNQ4 | - | - |
GRCh38 GRCh37 |
358 | 378 |
There are 121 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051815.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024