ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p13.3(chr16:2606710-3382546)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
SRRM2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
473 | 526 | |
MEFV | No evidence available | No evidence available |
GRCh38 GRCh37 |
951 | 1250 | |
BICDL2 | - | - |
GRCh38 GRCh37 |
6 | 48 | |
CLDN6 | - | - |
GRCh38 GRCh37 |
15 | 57 | |
CLDN9 | - | - |
GRCh38 GRCh37 |
35 | 78 | |
ELOB | - | - |
GRCh38 GRCh37 |
18 | 60 | |
FLYWCH1 | - | - |
GRCh38 GRCh37 |
102 | 151 | |
FLYWCH2 | - | - | - |
GRCh38 GRCh37 |
8 | 53 |
HCFC1R1 | - | - |
GRCh38 GRCh37 |
8 | 51 | |
IL32 | - | - |
GRCh38 GRCh37 |
29 | 76 |
There are 22 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 |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Dec 14, 2014 | RCV000512346.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024