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Links from MedGen

Items: 1 to 100 of 637

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYO7A
(L1813P +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 2
GLikely pathogenic
MYO7A
(E1499K +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 2
GLikely pathogenic
MYO7A
(S1194fs +1 more)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 2
GLikely pathogenic
MYO7A
(G1298E +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 2
+1 more
GConflicting classifications of pathogenicity
MYO7A
(K504N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYO7A
(P1702L +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 2
+3 more
GUncertain significance
MYO7A
(T1792M +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 11
+4 more
GUncertain significance
MYO7A
(L190W +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 2
+3 more
GUncertain significance
MYO7A
(Q1422* +1 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 2
GPathogenic
MYO7A
(R884C +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
MYO7A
(T2060P +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 2
GUncertain significance
MYO7A
(E1868K +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 11
+3 more
GUncertain significance
MYO7A
(V570fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
MYO7A
(R922C +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
MYO7A
(T2106I +2 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
+1 more
GUncertain significance
MYO7A
(T1522S +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 2
GUncertain significance
MYO7A
(P1209A +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
+2 more
GUncertain significance
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MYO7A
(T51M +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
+2 more
GUncertain significance
MYO7A
(G1211S +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
MYO7A
(I546V +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
+2 more
GUncertain significance
MYO7A
(H790P +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
+2 more
GUncertain significance
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MYO7A
(D354fs +1 more)
Duplication
(frameshift variant)
not provided
GPathogenic
MYO7A
(N2115fs +2 more)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 2
GLikely pathogenic
MYO7A
(Y1369H +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome
GLikely pathogenic
MYO7A
(R638Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
(Y549C +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
+1 more
GPathogenic/Likely pathogenic
MYO7A
(C2133S +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 2
GUncertain significance
MYO7A
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 2
GUncertain significance
MYO7A
(Q1609* +2 more)
Single nucleotide variant
(nonsense)
Usher syndrome type 1
+1 more
GPathogenic/Likely pathogenic
MYO7A
(R1285fs +1 more)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 2
GLikely pathogenic
MYO7A
Single nucleotide variant
(intron variant)
Usher syndrome type 1
+2 more
GBenign
MYO7A
Single nucleotide variant
(intron variant)
Usher syndrome type 1
+2 more
GBenign
MYO7A
Single nucleotide variant
(intron variant)
Usher syndrome type 1
+2 more
GBenign/Likely benign
MYO7A
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
MYO7A
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
MYO7A
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
MYO7A
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 2
+3 more
GBenign/Likely benign
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MYO7A
(Y1993* +2 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
MYO7A
(M1309V +1 more)
Single nucleotide variant
(missense variant)
Hearing impairment
+3 more
GUncertain significance
MYO7A
(R800C +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
MYO7A
(T1257fs +1 more)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 2
GLikely pathogenic
MYO7A
(R1659H +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYO7A
(A684T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYO7A
(R605Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYO7A
(E378K +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
+2 more
GUncertain significance
MYO7A
(T1625N +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
MYO7A
(L778P +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
+3 more
GUncertain significance
MYO7A
Single nucleotide variant
(intron variant)
not provided
+3 more
GUncertain significance
MYO7A
(R895H +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
MYO7A
(G1602S +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 2
+1 more
GPathogenic
MYO7A
(A1324T +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
+3 more
GUncertain significance
MYO7A
(R2176H +2 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
+3 more
GUncertain significance
MYO7A
(C154* +1 more)
Single nucleotide variant
(nonsense)
Autosomal dominant nonsyndromic hearing loss 11
+3 more
GPathogenic
MYO7A
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 11
+3 more
GUncertain significance
MYO7A
(S1718L +2 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
+4 more
GUncertain significance
MYO7A
(F213Y +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 11
+3 more
GUncertain significance
MYO7A
(R812C +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
MYO7A
(P121S +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
+2 more
GUncertain significance
MYO7A
Single nucleotide variant
(synonymous variant)
MYO7A-related condition
+4 more
GConflicting classifications of pathogenicity
MYO7A
Single nucleotide variant
(5 prime UTR variant)
Usher syndrome type 1
+2 more
GUncertain significance
MYO7A
(V1624D +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MYO7A
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 11
+3 more
GConflicting classifications of pathogenicity
MYO7A
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 11
+4 more
GConflicting classifications of pathogenicity
MYO7A
(R646Q +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 11
+3 more
GConflicting classifications of pathogenicity
MYO7A
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 11
+3 more
GUncertain significance
MYO7A
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 11
+3 more
GConflicting classifications of pathogenicity
MYO7A
(T1729M +2 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
+3 more
GUncertain significance
MYO7A
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 11
+3 more
GConflicting classifications of pathogenicity
MYO7A
(K1478Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
MYO7A
(M918I +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
+2 more
GUncertain significance
MYO7A
(D637N +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
+3 more
GUncertain significance
MYO7A
(T613M +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 2
+3 more
GUncertain significance
MYO7A
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 1
+2 more
GUncertain significance
MYO7A
(I2122T +2 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
+2 more
GUncertain significance
MYO7A
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 11
+3 more
GConflicting classifications of pathogenicity
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MYO7A
(T1988I +2 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
+2 more
GUncertain significance
MYO7A
Single nucleotide variant
(intron variant)
Usher syndrome type 1
+2 more
GUncertain significance
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MYO7A
(K1376N +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
+3 more
GUncertain significance
MYO7A
(A1288S +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 2
+2 more
GUncertain significance
MYO7A
(R1202Q +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 2
+3 more
GUncertain significance
MYO7A
Single nucleotide variant
(intron variant)
Usher syndrome type 1
+3 more
GConflicting classifications of pathogenicity
MYO7A
(A908T +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
+3 more
GConflicting classifications of pathogenicity
MYO7A
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 1
+2 more
GUncertain significance
MYO7A
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 11
+2 more
GConflicting classifications of pathogenicity
MYO7A
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 1
+2 more
GUncertain significance
MYO7A
Single nucleotide variant
(3 prime UTR variant)
Usher syndrome type 1
+2 more
GUncertain significance
MYO7A
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 11
+2 more
GConflicting classifications of pathogenicity
MYO7A
(F1340L +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
MYO7A
Single nucleotide variant
(intron variant)
Usher syndrome type 1
+2 more
GUncertain significance
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MYO7A
(D1019E +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
+2 more
GUncertain significance
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