ClinVar Genomic variation as it relates to human health
Single allele
Germline
Classification
(1)
Likely 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 | |||
CFAP61 | - | - |
GRCh38 GRCh37 |
103 | 136 | |
CRNKL1 | - | - |
GRCh38 GRCh37 |
32 | 63 | |
INSM1 | - | - |
GRCh38 GRCh37 |
34 | 61 | |
KIZ | - | - |
GRCh38 GRCh37 |
303 | 465 | |
NAA20 | - | - |
GRCh38 GRCh37 |
8 | 36 | |
NKX2-2 | - | - |
GRCh38 GRCh37 |
36 | 65 | |
NKX2-4 | - | - |
GRCh38 GRCh37 |
32 | 61 | |
PAX1 | - | - |
GRCh38 GRCh37 |
402 | 430 | |
RALGAPA2 | - | - |
GRCh38 GRCh37 |
127 | 154 | |
RIN2 | - | - |
GRCh38 GRCh37 |
545 | 572 |
There are 2 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Aug 1, 2023 | RCV003992662.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 01, 2024
19507012_21588883del;21588884_22510427inv;22510428_22525898del