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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYO7A
(Q18* +1 more)
Single nucleotide variant
(nonsense)
Autosomal dominant nonsyndromic hearing loss 11
+4 more
GPathogenic
MYO7A
(R120H +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign
MYO7A
(R336H +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome
GLikely benign
MYO7A
(R378C +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 2
+5 more
GConflicting classifications of pathogenicity
MYO7A
(R606H +1 more)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
GUncertain significance
MYO7A
(R873W +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
+5 more
GConflicting classifications of pathogenicity
MYO7A
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 2
+4 more
GUncertain significance
MYO7A
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYO7A
(M1956I +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYO7A
(T2081M +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
MYO7A
(G2137R +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
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