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Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYO7A
(M1V)
Single nucleotide variant
(missense variant +2 more)
Usher syndrome
+3 more
GPathogenic/Likely pathogenic
MYO7A
Deletion
(splice donor variant)
not provided
GLikely pathogenic
MYO7A
(H133fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
MYO7A
Single nucleotide variant
(splice acceptor variant)
Usher syndrome type 1
GLikely pathogenic
MYO7A
(T165M +1 more)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+1 more
GPathogenic
MYO7A
Single nucleotide variant
(intron variant)
not provided
GLikely pathogenic
MYO7A
(L366P +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
MYO7A
(E450Q +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
+2 more
GConflicting classifications of pathogenicity
MYO7A
(V570fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
MYO7A
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GLikely pathogenic
MYO7A
(A1277P +1 more)
Single nucleotide variant
(missense variant)
Nonsyndromic genetic hearing loss
GLikely pathogenic
MYO7A
(R1373* +1 more)
Single nucleotide variant
(nonsense)
Usher syndrome type 1
+4 more
GPathogenic
MYO7A
(K1737fs +2 more)
Duplication
Rare genetic deafness
+2 more
GPathogenic/Likely pathogenic
MYO7A
(L1858P +2 more)
Single nucleotide variant
(missense variant)
MYO7A-related condition
+6 more
GPathogenic/Likely pathogenic
MYO7A
(R1883Q +2 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
+2 more
GPathogenic/Likely pathogenic
MYO7A
(E1868* +2 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
MYO7A
(T1981fs +2 more)
Deletion
(frameshift variant)
not provided
GPathogenic
MYO7A
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive nonsyndromic hearing loss 2
+4 more
GPathogenic/Likely pathogenic
MYO7A
(S168fs +1 more)
Deletion
(frameshift variant)
Retinitis pigmentosa
GPathogenic
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