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Links from MedGen

Items: 1 to 100 of 331

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USH1C
(R410C)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 1C
GUncertain significance
USH1C
(D91G)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 1C
GUncertain significance
USH1C
Single nucleotide variant
(splice donor variant)
Usher syndrome type 1C
+1 more
GLikely pathogenic
USH1C
(S101fs)
Deletion
(frameshift variant +1 more)
Usher syndrome type 1C
GLikely pathogenic
USH1C
(W182*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
USH1C
(V29fs)
Insertion
(frameshift variant +1 more)
Usher syndrome type 1C
GLikely pathogenic
USH1C
(K489fs +2 more)
Deletion
(frameshift variant +1 more)
Usher syndrome type 1C
GLikely pathogenic
USH1C
(V29fs)
Insertion
(frameshift variant +1 more)
Usher syndrome type 1C
GLikely pathogenic
USH1C
(Q290fs +1 more)
Insertion
(frameshift variant +1 more)
Usher syndrome type 1C
GLikely pathogenic
USH1C
(E287* +1 more)
Single nucleotide variant
(nonsense +1 more)
Usher syndrome type 1C
GLikely pathogenic
USH1C
(C110fs)
Insertion
(frameshift variant +1 more)
Usher syndrome type 1C
GLikely pathogenic
USH1C
(K440* +2 more)
Single nucleotide variant
(nonsense +1 more)
Usher syndrome type 1C
GLikely pathogenic
USH1C
(M279fs +1 more)
Deletion
(non-coding transcript variant +1 more)
Usher syndrome type 1C
GLikely pathogenic
USH1C
(A286fs +1 more)
Deletion
(frameshift variant +1 more)
Usher syndrome type 1C
GLikely pathogenic
USH1C
(D481fs +2 more)
Deletion
(frameshift variant +1 more)
Usher syndrome type 1C
GLikely pathogenic
USH1C
(R468fs +2 more)
Deletion
(frameshift variant +1 more)
Usher syndrome type 1C
GLikely pathogenic
USH1C
(Y27*)
Single nucleotide variant
(nonsense +1 more)
Usher syndrome type 1C
GLikely pathogenic
USH1C
(L65P)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 1C
GUncertain significance
USH1C
(Q296fs +1 more)
Duplication
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
USH1C
(R598H)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 1C
+3 more
GUncertain significance
USH1C
Duplication
(intron variant)
not provided
GBenign
USH1C
Single nucleotide variant
(intron variant)
not provided
GLikely benign
USH1C
(R438C +2 more)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome
+3 more
GConflicting classifications of pathogenicity
USH1C
Single nucleotide variant
(intron variant)
not provided
GLikely benign
USH1C
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 18A
+2 more
GBenign
USH1C
Single nucleotide variant
(intron variant)
Usher syndrome type 1C
+2 more
GBenign
USH1C
Single nucleotide variant
(intron variant)
Usher syndrome type 1C
+2 more
GBenign
USH1C
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 18A
+2 more
GBenign
USH1C
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
USH1C
Single nucleotide variant
(intron variant)
not provided
GLikely benign
USH1C
(L180V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
USH1C
(R55C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
USH1C
(D454N +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
USH1C
(R205Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
USH1C
(E472K +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
USH1C
(G120S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
USH1C
(V261I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
USH1C
(R80W)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
USH1C
(D177G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
USH1C
(R291C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
USH1C
(R80Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
USH1C
(G168S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
USH1C
(R282C)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
USH1C
(G452V +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
USH1C
(I114T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
USH1C
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
USH1C
(N138D)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 1C
GUncertain significance
USH1C
(E148K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
USH1C
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
USH1C
(V172L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
USH1C
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
USH1C
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
USH1C
(V259G)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 1C
GUncertain significance
USH1C
(I288M)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
USH1C
(H376Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
USH1C
(Q387H +1 more)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 1C
GUncertain significance
USH1C
(D400N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
USH1C
(R435W +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
USH1C
(R438H +2 more)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 1C
+3 more
GUncertain significance
USH1C
(S455F +2 more)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 1C
GUncertain significance
USH1C
(I457N +2 more)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 1C
GUncertain significance
USH1C
(R473W +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 18A
+3 more
GUncertain significance
USH1C
(R282W +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
USH1C
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
USH1C
(E501K +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
USH1C
(G121S)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 1C
+3 more
GUncertain significance
USH1C
(R136Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
USH1C
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
USH1C
(I137V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
USH1C
(D847N +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
USH1C
(M423T +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
USH1C
(L318I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
USH1C
(V41M)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
USH1C
(H793Y +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+5 more
GUncertain significance
USH1C
Single nucleotide variant
(5 prime UTR variant +1 more)
Usher syndrome type 1C
GUncertain significance
USH1C
Single nucleotide variant
(5 prime UTR variant +1 more)
Usher syndrome type 1C
+2 more
GUncertain significance
USH1C
(A292G)
Single nucleotide variant
(missense variant +2 more)
Usher syndrome type 1C
+1 more
GUncertain significance
USH1C
Single nucleotide variant
(intron variant)
Usher syndrome type 1C
GUncertain significance
USH1C
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
USH1C
(P67L)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 1C
GUncertain significance
USH1C
(R289Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 1C
+1 more
GUncertain significance
USH1C
(R336I +1 more)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 1C
+1 more
GUncertain significance
USH1C
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
USH1C
Single nucleotide variant
(3 prime UTR variant +1 more)
Usher syndrome type 1C
GUncertain significance
USH1C
Single nucleotide variant
(3 prime UTR variant +1 more)
Usher syndrome type 1C
GUncertain significance
USH1C
Single nucleotide variant
(3 prime UTR variant +1 more)
Usher syndrome type 1C
GLikely benign
USH1C
Single nucleotide variant
(3 prime UTR variant +1 more)
Usher syndrome type 1C
GUncertain significance
USH1C
(G407A +1 more)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 1C
+1 more
GUncertain significance
USH1C
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
USH1C
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
USH1C
Single nucleotide variant
(3 prime UTR variant +1 more)
Usher syndrome type 1C
GUncertain significance
USH1C
(G469R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
USH1C
(Y494D +2 more)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 1C
GUncertain significance
USH1C
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
USH1C
(Q428R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
USH1C
(E761K +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
USH1C
(R338Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
USH1C
(S190W)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
USH1C
(R284W +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
USH1C
Single nucleotide variant
(synonymous variant +1 more)
USH1C-related condition
+1 more
GLikely benign
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