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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYO3A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
MYO3A
(G488E)
Single nucleotide variant
(missense variant)
Hearing loss, autosomal dominant 90
+2 more
GConflicting classifications of pathogenicity
MYO3A
(R991Q)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 30
+1 more
GUncertain significance
MYO3A
(Y1002fs)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 30
GLikely pathogenic
MYO3A
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
MYO3A
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive nonsyndromic hearing loss 30
GPathogenic
MYO3A
(R1561*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
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