ClinVar Genomic variation as it relates to human health
GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3
Germline
Classification
(1)
Pathogenic
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 | |||
BMPR1A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2323 | 2419 | |
KAT6B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
1264 | 1290 | |
RPS24 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
152 | 201 | |
NODAL | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
145 | 163 | |
NUDT13 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
29 | 46 | |
CTNNA3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
982 | 1055 | |
EGR2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
399 | 423 | |
GRID1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
87 | 138 | |
NRG3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
77 | 120 | |
A1CF | - | - |
GRCh38 GRCh37 |
29 | 49 |
There are 1000 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) |
|
Dec 16, 2011 | RCV000138007.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024