U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 43

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USH1C
(D847N +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
USH1C
(A538V +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
USH1C
(G530E +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
USH1C
(N827I +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
USH1C
(A520T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GUncertain significance
USH1C
(T514N +2 more)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 1C
+4 more
GUncertain significance
USH1C
(K489T +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
USH1C
(E501K +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
USH1C
(H793Y +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GUncertain significance
USH1C
(A464V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
USH1C
(G452V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
USH1C
(S463F +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
USH1C
(R435W +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
USH1C
(M449T +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
USH1C
(T444I +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
USH1C
(E413K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
USH1C
(R400C +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
USH1C
(L384P +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
USH1C
(M341T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
USH1C
(Y356H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
USH1C
(E338A +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
USH1C
(N328S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
USH1C
(R284W +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
USH1C
(A292G)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GUncertain significance
USH1C
(V264I)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
USH1C
(I254L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
USH1C
(P234S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
USH1C
(S198C)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
USH1C
(P176L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
USH1C
(K173R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
USH1C
(G168C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
USH1C
Single nucleotide variant
(splice donor variant)
Usher syndrome type 1C
+3 more
GPathogenic
USH1C
(R136W)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GUncertain significance
USH1C
(G121S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+4 more
GUncertain significance
USH1C
(I114T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
USH1C
(G99S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
USH1C
(G99C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
USH1C
(R80G)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
USH1C
(H70Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
USH1C
(P53R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
USH1C
(K47T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
USH1C
(V41M)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
USH1C
(R7G)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
Format
Items per page
Sort by
Choose Destination