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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STRC
(F1495fs)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 16
GPathogenic
STRC
(G1366*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 16
GPathogenic
STRC
(E1275*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 16
GPathogenic
STRC
(C590R)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 16
GLikely pathogenic
CCDC50
(D276fs +1 more)
Deletion
(frameshift variant)
Autosomal dominant nonsyndromic hearing loss 44
GPathogenic
PJVK
(F158fs +3 more)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 59
GPathogenic
PJVK
(H135D +3 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 59
GPathogenic
PJVK
(H135fs +3 more)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 59
GPathogenic
PJVK
(L224R +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 59
GPathogenic
HOMER2
(P267fs +1 more)
Deletion
(frameshift variant)
Autosomal dominant nonsyndromic hearing loss 68
GPathogenic
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