NM_004999.4(MYO6):c.2751dup (p.Gln918fs)Likely pathogenic
not provided|Essential tremor|Nonsyndromic genetic hearing loss|not specified|Autosomal dominant nonsyndromic hearing loss 22|MYO6-related disorder|Junctional epidermolysis bullosa with pyloric atresia
★★★☆2023→ Residue 918
NM_004999.4(MYO6):c.238C>T (p.Arg80Ter)Pathogenic
Nonsyndromic genetic hearing loss|not provided|not specified|Rare genetic deafness|Autosomal dominant nonsyndromic hearing loss 22|Monogenic hearing loss
★★★☆2023→ Residue 80
NM_004999.4(MYO6):c.3610C>T (p.Arg1204Trp)Pathogenic
not specified|not provided|Monogenic hearing loss
★★☆☆2026→ Residue 1204
NM_004999.4(MYO6):c.2814_2815del (p.Arg939fs)Pathogenic
Rare genetic deafness|not provided
★★☆☆2025→ Residue 939
NM_004999.4(MYO6):c.866_869del (p.Lys289fs)Pathogenic
Hearing impairment|not provided|Autosomal recessive nonsyndromic hearing loss 37;Autosomal dominant nonsyndromic hearing loss 22
★★☆☆2025→ Residue 289
NM_004999.4(MYO6):c.1159C>T (p.Arg387Ter)Pathogenic
not provided|Autosomal dominant nonsyndromic hearing loss 22
★★☆☆2025→ Residue 387
NM_004999.4(MYO6):c.613C>T (p.Arg205Ter)Pathogenic
not provided|MYO6-related disorder|Inborn genetic diseases
★★☆☆2025→ Residue 205
NM_004999.4(MYO6):c.737A>G (p.His246Arg)Pathogenic
Rare genetic deafness|not provided|Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
★★☆☆2025→ Residue 246
NM_004999.4(MYO6):c.3340dup (p.Ala1114fs)Pathogenic
Hearing impairment|not provided|Inborn genetic diseases
★★☆☆2025→ Residue 1114
NM_004999.4(MYO6):c.826C>T (p.Arg276Ter)Pathogenic
Rare genetic deafness|not provided|Autosomal dominant nonsyndromic hearing loss 22;Autosomal recessive nonsyndromic hearing loss 37|Autosomal dominant nonsyndromic hearing loss 22|Autosomal recessive nonsyndromic hearing loss 37|Inborn genetic diseases
★★☆☆2025→ Residue 276
NM_004999.4(MYO6):c.2839C>T (p.Arg947Ter)Pathogenic
Rare genetic deafness|Autosomal recessive nonsyndromic hearing loss 37|Autosomal dominant nonsyndromic hearing loss 22|not provided
★★☆☆2025→ Residue 947
NM_004999.4(MYO6):c.3496C>T (p.Arg1166Ter)Pathogenic
Autosomal recessive nonsyndromic hearing loss 37|not provided
★★☆☆2025→ Residue 1166
NM_004999.4(MYO6):c.2545C>T (p.Arg849Ter)Pathogenic
Autosomal dominant nonsyndromic hearing loss 22|Rare genetic deafness|not provided
★★☆☆2025→ Residue 849
NM_004999.4(MYO6):c.1859T>A (p.Leu620Ter)Pathogenic
not provided
★★☆☆2025→ Residue 620
NM_004999.4(MYO6):c.1983+1G>APathogenic
not provided|MYO6-related disorder
★★☆☆2024
NM_004999.4(MYO6):c.817-1G>ALikely pathogenic
not provided|Autosomal recessive nonsyndromic hearing loss 37
★★☆☆2023
NM_004999.4(MYO6):c.1408C>T (p.Gln470Ter)Pathogenic
not provided
★☆☆☆2026→ Residue 470
NM_004999.4(MYO6):c.2393G>A (p.Trp798Ter)Pathogenic
MYO6-related disorder
★☆☆☆2026→ Residue 798
NM_004999.4(MYO6):c.1452dup (p.Asn485Ter)Pathogenic
Autosomal dominant nonsyndromic hearing loss 22|not provided
★☆☆☆2025→ Residue 485
NM_004999.4(MYO6):c.2480G>A (p.Trp827Ter)Likely pathogenic
Autosomal dominant nonsyndromic hearing loss 22
★☆☆☆2025→ Residue 827