NM_016239.4(MYO15A):c.4642G>A (p.Ala1548Thr)Likely pathogenic
not specified|not provided|Autosomal recessive nonsyndromic hearing loss 3|MYO15A-related disorder
β
β
β
β2025β Residue 1548
NM_016239.4(MYO15A):c.9517+2T>CLikely pathogenic
Rare genetic deafness|Autosomal recessive nonsyndromic hearing loss 3|Nonsyndromic genetic hearing loss|Hearing impairment
β
β
β
β2024
NM_016239.4(MYO15A):c.996C>G (p.Tyr332Ter)Pathogenic
Rare genetic deafness|Autosomal recessive nonsyndromic hearing loss 3|not provided|Nonsyndromic genetic hearing loss
β
β
β
β2024β Residue 332
NM_016239.4(MYO15A):c.6337A>T (p.Ile2113Phe)Likely pathogenic
Autosomal recessive nonsyndromic hearing loss 3|Nonsyndromic genetic hearing loss|not provided
β
β
β
β2024β Residue 2113
NM_016239.4(MYO15A):c.1137del (p.Tyr380fs)Likely pathogenic
not provided|Autosomal recessive nonsyndromic hearing loss 3|Rare genetic deafness|Hearing impairment|Nonsyndromic genetic hearing loss
β
β
β
β2024β Residue 380
NM_016239.4(MYO15A):c.4176C>A (p.Tyr1392Ter)Pathogenic
not provided|Nonsyndromic genetic hearing loss|Autosomal recessive nonsyndromic hearing loss 3
β
β
β
β2021β Residue 1392
NM_016239.4(MYO15A):c.10045C>T (p.Gln3349Ter)Pathogenic
Rare genetic deafness|Inborn genetic diseases|Nonsyndromic genetic hearing loss
β
β
β
β2021β Residue 3349
NM_016239.4(MYO15A):c.1171_1177dup (p.Tyr393fs)Pathogenic
Autosomal recessive nonsyndromic hearing loss 3|Nonsyndromic genetic hearing loss|Rare genetic deafness
β
β
β
β2021β Residue 393
NM_016239.4(MYO15A):c.4198G>A (p.Val1400Met)Pathogenic
Autosomal recessive nonsyndromic hearing loss 3|Rare genetic deafness|not provided|Nonsyndromic genetic hearing loss
β
β
β
β2021β Residue 1400
NM_016239.4(MYO15A):c.6764+2T>APathogenic
not provided|Autosomal recessive nonsyndromic hearing loss 3|Rare genetic deafness
β
β
ββ2026
NM_016239.4(MYO15A):c.3866+1G>APathogenic
not provided|Autosomal recessive nonsyndromic hearing loss 3
β
β
ββ2026
NM_016239.4(MYO15A):c.4777G>A (p.Glu1593Lys)Pathogenic
not specified|not provided|Autosomal recessive nonsyndromic hearing loss 3|Monogenic hearing loss
β
β
ββ2026β Residue 1593
NM_016239.4(MYO15A):c.6893G>A (p.Arg2298Gln)Pathogenic
Nonsyndromic genetic hearing loss|Autosomal recessive nonsyndromic hearing loss 3
β
β
ββ2026β Residue 2298
NM_016239.4(MYO15A):c.8065del (p.Trp2689fs)Pathogenic
not provided
β
β
ββ2026β Residue 2689
NM_016239.4(MYO15A):c.9861C>T (p.Gly3287=)Pathogenic
Rare genetic deafness|Autosomal recessive nonsyndromic hearing loss 3|not provided|MYO15A-related disorder
β
β
ββ2026β Residue 3287
NM_016239.4(MYO15A):c.2419C>T (p.Gln807Ter)Pathogenic
not provided|Autosomal recessive nonsyndromic hearing loss 3
β
β
ββ2026β Residue 807
NM_016239.4(MYO15A):c.3385C>T (p.Arg1129Ter)Pathogenic
Rare genetic deafness|not provided|Autosomal recessive nonsyndromic hearing loss 3
β
β
ββ2026β Residue 1129
NM_016239.4(MYO15A):c.7124_7127del (p.Asp2375fs)Pathogenic
Autosomal recessive nonsyndromic hearing loss 3|Rare genetic deafness|Congenital sensorineural hearing impairment|not provided|MYO15A-related disorder|Intellectual disability
β
β
ββ2026β Residue 2375
NM_016239.4(MYO15A):c.2629G>T (p.Glu877Ter)Pathogenic
not provided|Autosomal recessive nonsyndromic hearing loss 3
β
β
ββ2025β Residue 877
NM_016239.4(MYO15A):c.10573del (p.Ser3525fs)Pathogenic
Autosomal recessive nonsyndromic hearing loss 3|not provided|MYO15A-related disorder
β
β
ββ2025β Residue 3525