ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6p21.31-21.2(chr6:34401304-38435497)
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 | |||
ANKS1A | - | - |
GRCh38 GRCh37 |
75 | 89 | |
ARMC12 | - | - | - |
GRCh38 GRCh37 |
23 | 32 |
BNIP5 | - | - | - |
GRCh38 GRCh37 |
8 | 17 |
BRPF3 | - | - |
GRCh38 GRCh37 |
68 | 77 | |
BTBD9 | - | - |
GRCh38 GRCh37 |
39 | 50 | |
C6orf89 | - | - |
GRCh38 GRCh37 |
1 | 16 | |
CCDC167 | - | - | - |
GRCh38 GRCh37 |
8 | 15 |
CDKN1A | - | - |
GRCh38 GRCh37 |
20 | 29 | |
CLPS | - | - |
GRCh38 GRCh37 |
4 | 13 | |
CLPSL1 | - | - | - |
GRCh38 GRCh37 |
13 | 22 |
There are 41 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 1, 2020 | RCV001291973.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022