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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYO7A
(Q234* +1 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 2
+3 more
GPathogenic
MYO7A
(R373C +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 2
+4 more
GConflicting classifications of pathogenicity
MYO7A
(L528R +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
+1 more
GLikely pathogenic
MYO7A
Single nucleotide variant
(splice donor variant)
Autosomal recessive nonsyndromic hearing loss 2
GLikely pathogenic
MYO7A
(N758fs +1 more)
Deletion
(frameshift variant)
Usher syndrome type 1
+1 more
GPathogenic
MYO7A
(R884C +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MYO7A
(E1159G +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
+3 more
GConflicting classifications of pathogenicity
MYO7A
(G1298R +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome
+3 more
GPathogenic/Likely pathogenic
MYO7A
(R1701* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 2
+4 more
GPathogenic/Likely pathogenic
MYO7A
(L1837P +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MYO7A
(Q2066* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 2
+2 more
GPathogenic/Likely pathogenic
MYO7A
(W2028fs +2 more)
Duplication
(frameshift variant)
Usher syndrome type 1
GPathogenic
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