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Items: 1 to 100 of 342

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYO3A
(I9V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO3A
(T26*)
Indel
(nonsense)
not provided
GPathogenic/Likely pathogenic
MYO3A
(G28D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO3A
(V38L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO3A
(V38A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
MYO3A
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 30
+1 more
GLikely benign
MYO3A
(Q45*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
MYO3A
(I51S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO3A
(I51N)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 30
+3 more
GUncertain significance
MYO3A
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MYO3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYO3A
(D57A)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
MYO3A
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MYO3A
(I68L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO3A
(N77T)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
MYO3A
(F81L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO3A
(I84L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MYO3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO3A
(N92S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYO3A
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MYO3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYO3A
(G106fs)
Deletion
(frameshift variant)
not specified
+2 more
GConflicting classifications of pathogenicity
MYO3A
(L131F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO3A
Microsatellite
(intron variant)
not provided
+1 more
GBenign
MYO3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYO3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYO3A
(H142Y)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
MYO3A
(H142Q)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 30
+2 more
GConflicting classifications of pathogenicity
MYO3A
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
MYO3A
(T160M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO3A
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 30
+2 more
GBenign
MYO3A
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
MYO3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYO3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYO3A
Single nucleotide variant
(intron variant)
not provided
GBenign/Likely benign
MYO3A
Deletion
not provided
GPathogenic
MYO3A
(T178I)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 30
+2 more
GBenign/Likely benign
MYO3A
(R179W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
MYO3A
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MYO3A
Deletion
(frameshift variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYO3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO3A
Single nucleotide variant
(intron variant)
not specified
+1 more
GUncertain significance
MYO3A
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYO3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYO3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO3A
(D204N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYO3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO3A
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 30
+2 more
GBenign/Likely benign
MYO3A
(S215F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO3A
(T219M)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
MYO3A
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 30
+2 more
GBenign/Likely benign
MYO3A
(D227V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO3A
(M236V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYO3A
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
MYO3A
Single nucleotide variant
(3 prime UTR variant +1 more)
Autosomal recessive nonsyndromic hearing loss 30
+2 more
GBenign
MYO3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYO3A
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MYO3A
(L250fs)
Duplication
(frameshift variant)
not provided
GPathogenic
MYO3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYO3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYO3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYO3A
(L268F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO3A
(V278M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO3A
(M296I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYO3A
(Q298*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
MYO3A
(Q298L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO3A
(T302M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYO3A
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MYO3A
(A317P)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MYO3A
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
MYO3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYO3A
Deletion
(intron variant)
not provided
GUncertain significance
MYO3A
(R319H)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
MYO3A
(R321H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MYO3A
(N330S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO3A
(R331Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO3A
(P332S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO3A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
MYO3A
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
MYO3A
(I348L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO3A
(I348V)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 30
+2 more
GBenign
MYO3A
(E351A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYO3A
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MYO3A
Inversion
Hearing loss, autosomal recessive
+2 more
GConflicting classifications of pathogenicity
MYO3A
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
MYO3A
(V369I)
Indel
(missense variant)
not provided
+1 more
GBenign/Likely benign
MYO3A
(V369I)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 30
+2 more
GBenign
MYO3A
(Q382R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYO3A
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 30
+2 more
GBenign
MYO3A
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 30
+1 more
GConflicting classifications of pathogenicity
MYO3A
(S392P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
MYO3A
(S398*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic/Likely pathogenic
MYO3A
(S403G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
MYO3A
(I407M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO3A
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
MYO3A
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
MYO3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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