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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PCDH15
(K1872E +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
PCDH15
(R1273S +6 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1D
+5 more
GConflicting classifications of pathogenicity
PCDH15
(T840A +6 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PCDH15
(T765S +6 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PCDH15
(D447N +5 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GUncertain significance
PCDH15
(G407A +3 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
+5 more
GConflicting classifications of pathogenicity
PCDH15
(T237S +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PCDH15
(P198L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GUncertain significance
PCDH15
(G45E +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LOC105378311, PCDH15
(I43T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
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