MYHAS
Basic information
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Myopathy, proximal, and ophthalmoplegia (972 variants)
- not provided (442 variants)
- Inborn genetic diseases (310 variants)
- Hecht syndrome (117 variants)
- not specified (77 variants)
- Inclusion Body Myopathy, Dominant (34 variants)
- MYH2-related condition (9 variants)
- Carney complex - trismus - pseudocamptodactyly syndrome (5 variants)
- Carney complex - trismus - pseudocamptodactyly syndrome;Hecht syndrome (4 variants)
- MYH8-related condition (4 variants)
- Arthrogryposis, distal, type 1A (2 variants)
- Myopathy (2 variants)
- Childhood-onset autosomal recessive myopathy with external ophthalmoplegia (1 variants)
- 13 conditions (1 variants)
- Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome (1 variants)
- Muscular dystrophy (1 variants)
- MYH2 related disorder (1 variants)
- MYH2-related myopathy (1 variants)
- Malignant tumor of prostate (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYHAS 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 ? | 38 | 41 | 974 | 459 | 135 | 1647 |
Total | 38 | 41 | 974 | 459 | 135 |
Highest pathogenic variant AF is 0.000158
GnomAD
Source:
dbNSFP
Source: