ClinVar Genomic variation as it relates to human health
GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)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 | |||
SMAD4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2062 | 2104 | |
TCF4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
955 | 1179 | |
KATNAL2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
105 | 183 | |
GALR1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
21 | 190 | |
SMAD2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
310 | 348 | |
ZNF407 | No evidence available | No evidence available |
GRCh38 GRCh37 |
254 | 461 | |
ACAA2 | - | - |
GRCh38 GRCh37 |
21 | 62 | |
ADNP2 | - | - |
GRCh38 GRCh37 |
52 | 227 | |
ALPK2 | - | - |
GRCh38 GRCh37 |
1585 | 2463 | |
ATP5F1A | - | - |
GRCh38 GRCh37 |
170 | 242 |
There are 120 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) |
|
Nov 11, 2014 | RCV000511203.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 05, 2022