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Links from MedGen

Items: 1 to 100 of 168

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYO3A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
MYO3A
(N1128fs)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 30
GLikely pathogenic
MYO3A
(T302M)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 30
+1 more
GConflicting classifications of pathogenicity
MYO3A
(Q298*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
MYO3A
(R991Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYO3A
(G488E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYO3A
(Y1002fs)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 30
GLikely pathogenic
MYO3A
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive nonsyndromic hearing loss 30
GPathogenic
MYO3A
(S928*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 30
+1 more
GConflicting classifications of pathogenicity
MYO3A
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 30
+1 more
GBenign
MYO3A
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 30
+1 more
GBenign
MYO3A
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
MYO3A
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 30
+1 more
GBenign
MYO3A
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 30
+1 more
GBenign
MYO3A
(V38A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYO3A
(E1246fs)
Microsatellite
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 30
GPathogenic
MYO3A
(W1031*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 30
GLikely pathogenic
MYO3A
(H142Q)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 30
+2 more
GConflicting classifications of pathogenicity
MYO3A
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 30
GUncertain significance
MYO3A
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 30
GUncertain significance
MYO3A
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 30
GUncertain significance
MYO3A
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 30
GUncertain significance
MYO3A
(A1255T)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 30
GUncertain significance
MYO3A
(E730K)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 30
GUncertain significance
MYO3A
(V371M)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 30
GUncertain significance
MYO3A
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 30
GUncertain significance
MYO3A
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 30
GUncertain significance
MYO3A
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 30
GUncertain significance
MYO3A
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 30
GUncertain significance
MYO3A
(G659R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYO3A
(E633D)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 30
GUncertain significance
MYO3A
(F304L)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 30
GUncertain significance
MYO3A
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 30
GUncertain significance
MYO3A
(V78G)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 30
+1 more
GUncertain significance
MYO3A
(D1029N)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 30
+1 more
GUncertain significance
MYO3A
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 30
+1 more
GConflicting classifications of pathogenicity
MYO3A
(R1000Q)
Single nucleotide variant
(missense variant)
Hearing loss, autosomal dominant 90
+2 more
GUncertain significance
MYO3A
(I521L)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 30
GUncertain significance
MYO3A
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 30
GUncertain significance
MYO3A
(T925M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYO3A
(C1317fs)
Duplication
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 30
GPathogenic
MYO3A
(R457fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
MYO3A
Single nucleotide variant
(stop lost)
not provided
+1 more
GUncertain significance
MYO3A
(R1561*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 30
+1 more
GConflicting classifications of pathogenicity
MYO3A
(L1502*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
MYO3A
(Y530fs)
Duplication
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 30
GUncertain significance
MYO3A
(R331*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GUncertain significance
MYO3A
Deletion
(frameshift variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYO3A
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive nonsyndromic hearing loss 30
GLikely pathogenic
MYO3A
(E578*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 30
GPathogenic
MYO3A
(R562*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 30
GPathogenic
MYO3A
(S1167fs)
Deletion
(frameshift variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYO3A
(I901V)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 30
+1 more
GUncertain significance
MYO3A
(I610V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
MYO3A
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYO3A
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 30
GUncertain significance
MYO3A
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 30
GUncertain significance
MYO3A
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 30
GUncertain significance
MYO3A
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYO3A
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 30
+1 more
GBenign/Likely benign
MYO3A
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 30
GUncertain significance
MYO3A
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 30
GUncertain significance
MYO3A
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 30
GUncertain significance
MYO3A
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 30
+1 more
GConflicting classifications of pathogenicity
MYO3A
(R1497W)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 30
GUncertain significance
MYO3A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYO3A
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 30
GUncertain significance
MYO3A
(I1294V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
MYO3A
(T1288A)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 30
GUncertain significance
MYO3A
(S1253P)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 30
GUncertain significance
MYO3A
(L1221V)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 30
GUncertain significance
MYO3A
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 30
GUncertain significance
MYO3A
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 30
+1 more
GUncertain significance
MYO3A
(V1113I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
MYO3A
(A1086T)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 30
GUncertain significance
MYO3A
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
MYO3A
(P1012L)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 30
GUncertain significance
MYO3A
(E957G)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 30
+1 more
GUncertain significance
MYO3A
(I952L)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 30
GUncertain significance
MYO3A
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 30
GUncertain significance
MYO3A
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 30
GUncertain significance
MYO3A
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 30
GUncertain significance
MYO3A
(Y598H)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 30
GUncertain significance
MYO3A
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 30
GUncertain significance
MYO3A
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYO3A
(I528T)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 30
GUncertain significance
MYO3A
(I521T)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 30
GUncertain significance
MYO3A
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 30
GUncertain significance
MYO3A
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYO3A
(G313D)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 30
GUncertain significance
MYO3A
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
MYO3A
(I287L)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 30
+1 more
GUncertain significance
MYO3A
(M236V)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 30
+1 more
GUncertain significance
MYO3A
(D204N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYO3A
(L111P)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 30
GUncertain significance
MYO3A
(I51N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
MYO3A
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 30
GBenign
MYO3A
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 30
GUncertain significance
MYO3A
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 30
GUncertain significance
MYO3A
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 30
GLikely benign
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