NM_001384474.1(LOXHD1):c.760-2delLikely pathogenic
not provided|Autosomal recessive nonsyndromic hearing loss 77
β
β
ββ2026
NM_001384474.1(LOXHD1):c.232del (p.Gln78fs)Pathogenic
not provided|Autosomal recessive nonsyndromic hearing loss 77
β
β
ββ2026β Residue 78
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter)Pathogenic
Rare genetic deafness|not provided|Autosomal recessive nonsyndromic hearing loss 77|Nonsyndromic genetic hearing loss|Inborn genetic diseases|LOXHD1-related disorder
β
β
ββ2026β Residue 1494
NM_001384474.1(LOXHD1):c.6182+1G>TLikely pathogenic
not provided|Autosomal recessive nonsyndromic hearing loss 77
β
β
ββ2026
NM_001384474.1(LOXHD1):c.2497C>T (p.Arg833Ter)Pathogenic
Rare genetic deafness|not provided|Autosomal recessive nonsyndromic hearing loss 77|Hearing impairment
β
β
ββ2026β Residue 833
NM_001384474.1(LOXHD1):c.4413del (p.Pro1472fs)Pathogenic
not provided|Autosomal recessive nonsyndromic hearing loss 77
β
β
ββ2026β Residue 1472
NM_001384474.1(LOXHD1):c.2641G>A (p.Gly881Arg)Pathogenic
Nonsyndromic genetic hearing loss|not provided|Autosomal recessive nonsyndromic hearing loss 77
β
β
ββ2026β Residue 881
NM_001384474.1(LOXHD1):c.4989G>A (p.Trp1663Ter)Pathogenic
not provided|Autosomal recessive nonsyndromic hearing loss 77
β
β
ββ2025β Residue 1663
NM_001384474.1(LOXHD1):c.2431C>T (p.Gln811Ter)Pathogenic
not provided|Autosomal recessive nonsyndromic hearing loss 77
β
β
ββ2025β Residue 811
NM_001384474.1(LOXHD1):c.1537_1538del (p.Leu513fs)Pathogenic
not provided|Rare genetic deafness|Autosomal recessive nonsyndromic hearing loss 77
β
β
ββ2025β Residue 513
NM_001384474.1(LOXHD1):c.4714C>T (p.Arg1572Ter)Pathogenic
Autosomal recessive nonsyndromic hearing loss 77|Rare genetic deafness|not provided|LOXHD1-related disorder|Deafness
β
β
ββ2025β Residue 1572
NM_001384474.1(LOXHD1):c.6074del (p.Gly2025fs)Pathogenic
not provided|Autosomal recessive nonsyndromic hearing loss 77
β
β
ββ2025β Residue 2025
NM_001384474.1(LOXHD1):c.4794_4795insTC (p.Ile1599fs)Pathogenic
not provided|Autosomal recessive nonsyndromic hearing loss 77
β
β
ββ2025β Residue 1599
NM_001384474.1(LOXHD1):c.442A>T (p.Lys148Ter)Pathogenic
Autosomal recessive nonsyndromic hearing loss 77|not provided|LOXHD1-related disorder
β
β
ββ2025β Residue 148
NM_001384474.1(LOXHD1):c.1906del (p.Asp636fs)Pathogenic
not provided|Autosomal recessive nonsyndromic hearing loss 77
β
β
ββ2025β Residue 636
NM_001384474.1(LOXHD1):c.5974_5975del (p.Lys1991_Ser1992insTer)Pathogenic
not provided|Autosomal recessive nonsyndromic hearing loss 77
β
β
ββ2025β Residue 1991
NM_001384474.1(LOXHD1):c.4212+1G>APathogenic
not provided|Autosomal recessive nonsyndromic hearing loss 77
β
β
ββ2025
NM_001384474.1(LOXHD1):c.3061+1G>APathogenic
Hearing loss, autosomal recessive|not provided|Autosomal recessive nonsyndromic hearing loss 77|Hearing impairment|LOXHD1-related disorder
β
β
ββ2025
NM_001384474.1(LOXHD1):c.4375+1G>TLikely pathogenic
not provided|Autosomal recessive nonsyndromic hearing loss 77
β
β
ββ2025
NM_001384474.1(LOXHD1):c.246-2A>GPathogenic
not provided|Autosomal recessive nonsyndromic hearing loss 77
β
β
ββ2025