RMDN2-AS1
Basic information
Region (hg38): 2:37949911-38067041
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (32 variants)
- not provided (2 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the RMDN2-AS1 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 0 | |||||
missense | 0 | |||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 29 | 34 | ||||
Total | 0 | 0 | 29 | 3 | 2 |
Variants in RMDN2-AS1
This is a list of pathogenic ClinVar variants found in the RMDN2-AS1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
2-37951249-C-G | not specified | Uncertain significance (May 31, 2023) | ||
2-37951268-C-T | not specified | Uncertain significance (Sep 22, 2022) | ||
2-37951303-C-T | not specified | Uncertain significance (Nov 16, 2021) | ||
2-37951304-G-A | not specified | Likely benign (Apr 19, 2024) | ||
2-37951316-C-T | not specified | Uncertain significance (Jul 19, 2023) | ||
2-37951361-C-T | not specified | Uncertain significance (Jun 10, 2024) | ||
2-37951372-C-A | not specified | Uncertain significance (Nov 17, 2023) | ||
2-37951385-C-A | not specified | Uncertain significance (Mar 07, 2023) | ||
2-37951431-C-G | not specified | Uncertain significance (Dec 14, 2023) | ||
2-37951541-A-G | not specified | Uncertain significance (Jun 16, 2023) | ||
2-37951550-C-T | not specified | Uncertain significance (Jun 07, 2024) | ||
2-37951601-C-G | not specified | Uncertain significance (May 11, 2022) | ||
2-37951613-G-A | not specified | Uncertain significance (Jul 27, 2022) | ||
2-37951664-G-A | not specified | Uncertain significance (Mar 23, 2022) | ||
2-37951675-T-C | not specified | Uncertain significance (Jul 11, 2023) | ||
2-37951714-A-G | not specified | Uncertain significance (Nov 03, 2023) | ||
2-37951734-A-G | Benign (Apr 02, 2018) | |||
2-37951794-C-G | not specified | Likely benign (Oct 06, 2021) | ||
2-37951826-A-T | not specified | Uncertain significance (Jan 18, 2022) | ||
2-37951901-A-G | not specified | Uncertain significance (Apr 26, 2023) | ||
2-37951929-G-A | Benign (Oct 10, 2018) | |||
2-37951984-A-G | not specified | Uncertain significance (Jun 24, 2022) | ||
2-37952002-A-G | not specified | Uncertain significance (Nov 22, 2023) | ||
2-37952021-C-G | not specified | Uncertain significance (Jan 20, 2023) | ||
2-37952024-C-G | not specified | Uncertain significance (Jul 25, 2023) |
GnomAD
Source:
dbNSFP
Source: