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Links from MedGen

Items: 1 to 100 of 560

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYO7A
(Q170* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
MYO7A
(V1262M +4 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
GUncertain significance
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
MYO7A
(I1726N +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
MYO7A
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
MYO7A
(A684G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
(R768W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
Insertion
(intron variant)
not provided
GLikely benign
MYO7A
(R1327H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
(E1082K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
(V11L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
(A1005T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
(R362L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
(R1834W +2 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic/Likely pathogenic
MYO7A
Microsatellite
(intron variant)
not provided
GBenign
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO7A
(A1551V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO7A
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
MYO7A
(K1761* +2 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
MYO7A
(A1266T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
(R870W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
(A1329V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
(Y527H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
(S1559F)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MYO7A
(T87M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
(A324V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
(V1308A +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
MYO7A
(K905E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO7A
(C1879R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
(E1348K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
(R800C +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 11
+3 more
GUncertain significance
MYO7A
(S1449T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MYO7A
(R120C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
(S346P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
(I1992T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
(R2031W +2 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
MYO7A
(L1888F +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
(M599T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
(G564R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
(K1689Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
(I2141V +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 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
(V1620A +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
MYO7A
(T1066S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
(T1404A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MYO7A
(L1531P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MYO7A
(S1054G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
(L1087V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
(F1366S +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
MYO7A
(R1647W +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYO7A
(F202L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
(T1664M +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MYO7A
(E2045Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYO7A
(S929L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO7A
(I840M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
(I1432L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
(Y816C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
(Y103C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MYO7A
Single nucleotide variant
(synonymous variant)
Usher syndrome type 1B
GUncertain significance
MYO7A
(R1647Q +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
MYO7A
(Q1643R +2 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1B
GUncertain significance
MYO7A
(T1625N +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
MYO7A
Single nucleotide variant
(synonymous variant)
Usher syndrome type 1B
GUncertain significance
MYO7A
(G1574D +2 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1B
GUncertain significance
MYO7A
(F1548L +2 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1B
GUncertain significance
MYO7A
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MYO7A
(F1334L +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1B
GUncertain significance
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO7A
(A1311T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
(F1286L +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1B
GUncertain significance
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO7A
Single nucleotide variant
(intron variant)
Usher syndrome type 1B
GUncertain significance
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO7A
Single nucleotide variant
(intron variant)
Usher syndrome type 1B
GUncertain significance
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO7A
(N1139S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
(L1076R +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1B
GUncertain significance
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO7A
(P925S +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO7A
(K877E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYO7A
Single nucleotide variant
(synonymous variant)
Usher syndrome type 1B
GUncertain significance
MYO7A
(R812H +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
MYO7A
(I807V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
(H796P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MYO7A
(R780C +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MYO7A
(L778P +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO7A
(R696S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
(R675P +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1B
GUncertain significance
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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