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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OSBPL2
(H48fs +1 more)
Microsatellite
(5 prime UTR variant +2 more)
Autosomal dominant nonsyndromic hearing loss 67
GPathogenic
Hearing loss, autosomal recessive 111
GPathogenic
Autosomal recessive nonsyndromic hearing loss 3
GPathogenic
MYO15A
(E1627*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 3
GPathogenic
MPZL2
(A155fs)
Deletion
(frameshift variant)
Hearing loss, autosomal recessive 111
GPathogenic
OTOA
(Q265fs +2 more)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 22
+2 more
GPathogenic
KCNQ4
Deletion
(inframe_deletion)
Autosomal dominant nonsyndromic hearing loss 2A
GPathogenic
KCNQ4
(D266Y)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 2A
GPathogenic
MPZL2
(Q74*)
Single nucleotide variant
(nonsense)
Hearing loss, autosomal recessive 111
GPathogenic
KCNQ4
(L47P)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 2A
GPathogenic
OTOG
(Y110* +1 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 18B
+1 more
GPathogenic
MYO15A
(E396fs)
Duplication
Rare genetic deafness
+2 more
GPathogenic
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