NM_004700.4(KCNQ4):c.825G>C (p.Trp275Cys)Likely pathogenic
not specified|Nonsyndromic genetic hearing loss|not provided
★★★☆2023→ Residue 275
NM_004700.4(KCNQ4):c.803CCT[1] (p.Ser269del)Pathogenic
not provided|Autosomal dominant nonsyndromic hearing loss 2A|not specified|Nonsyndromic genetic hearing loss
★★★☆2023→ Residue 269
NM_004700.4(KCNQ4):c.853G>A (p.Gly285Ser)Pathogenic
Autosomal dominant nonsyndromic hearing loss 2A|Nonsyndromic genetic hearing loss|Rare genetic deafness|not provided
★★★☆2018→ Residue 285
NM_004700.4(KCNQ4):c.364C>T (p.Gln122Ter)Likely pathogenic
Autosomal dominant nonsyndromic hearing loss 2A
★★☆☆2025→ Residue 122
NM_004700.4(KCNQ4):c.406-2A>GLikely pathogenic
not provided|Autosomal dominant nonsyndromic hearing loss 2A
★★☆☆2025
NM_004700.4(KCNQ4):c.140T>C (p.Leu47Pro)Pathogenic
Autosomal dominant nonsyndromic hearing loss 2A|not provided
★★☆☆2025→ Residue 47
NM_004700.4(KCNQ4):c.872C>T (p.Pro291Leu)Pathogenic
Autosomal dominant nonsyndromic hearing loss 2A|not provided
★★☆☆2025→ Residue 291
NM_004700.4(KCNQ4):c.701A>T (p.His234Leu)Pathogenic
Bilateral sensorineural hearing impairment|not provided
★★☆☆2024→ Residue 234
NM_004700.4(KCNQ4):c.827G>T (p.Trp276Leu)Likely pathogenic
KCNQ4-related disorder|not provided
★★☆☆2024→ Residue 276
NM_004700.4(KCNQ4):c.842T>C (p.Leu281Ser)Pathogenic
Autosomal dominant nonsyndromic hearing loss 2A|not provided
★★☆☆2024→ Residue 281
NM_004700.4(KCNQ4):c.961G>A (p.Gly321Ser)Pathogenic
Autosomal dominant nonsyndromic hearing loss 2A|Rare genetic deafness|not provided
★★☆☆2024→ Residue 321
NM_004700.4(KCNQ4):c.1438C>T (p.Gln480Ter)Pathogenic
not provided|Autosomal dominant nonsyndromic hearing loss 2A
★★☆☆2023→ Residue 480
NM_004700.4(KCNQ4):c.678dup (p.Leu227fs)Likely pathogenic
Autosomal dominant nonsyndromic hearing loss 2A
★☆☆☆2025→ Residue 227
NM_004700.4(KCNQ4):c.670T>C (p.Trp224Arg)Likely pathogenic
Autosomal dominant nonsyndromic hearing loss 2A
★☆☆☆2025→ Residue 224
NM_004700.4(KCNQ4):c.777_778delinsCT (p.Glu260Ter)Pathogenic
not provided
★☆☆☆2025→ Residue 260
NM_004700.4(KCNQ4):c.835-1G>TLikely pathogenic
not provided
★☆☆☆2025
NM_004700.4(KCNQ4):c.809A>C (p.Tyr270Ser)Likely pathogenic
not provided
★☆☆☆2025→ Residue 270
NM_004700.4(KCNQ4):c.1277del (p.Phe426fs)Pathogenic
not provided
★☆☆☆2025→ Residue 426
NM_004700.4(KCNQ4):c.1107T>A (p.Tyr369Ter)Likely pathogenic
Autosomal dominant nonsyndromic hearing loss 2A
★☆☆☆2025→ Residue 369
NM_004700.4(KCNQ4):c.721G>C (p.Ala241Pro)Likely pathogenic
Autosomal dominant nonsyndromic hearing loss 2A
★☆☆☆2025→ Residue 241