ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)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 | |||
GRIN2A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2036 | 2087 | |
RBFOX1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
531 | 681 | |
SH2B1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
201 | 355 | |
LITAF | No evidence available | No evidence available |
GRCh38 GRCh37 |
279 | 309 | |
MYH11 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
1988 | 3711 | |
NTAN1 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
- | 198 | |
ABAT | - | - |
GRCh38 GRCh37 |
706 | 792 | |
ABCC1 | - | - |
GRCh38 GRCh38 GRCh37 |
112 | 461 | |
ABCC6 | - | - |
GRCh38 GRCh38 GRCh37 |
1441 | 1798 | |
ACSM1 | - | - |
GRCh38 GRCh37 |
23 | 54 |
There are 843 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 30, 2009 | RCV000133809.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023