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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PCDH15
(N1660S +4 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1D
GUncertain significance
PCDH15
(T1549A +4 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1D
GUncertain significance
PCDH15
(S1622G +1 more)
Single nucleotide variant
(missense variant +2 more)
Usher syndrome type 1D
+2 more
GUncertain significance
PCDH15
(R1815G +8 more)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 1D
GUncertain significance
PCDH15
Duplication
(nonsense +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PCDH15
(P1649S +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PCDH15
(F680fs +6 more)
Deletion
(frameshift variant)
Usher syndrome type 1D
GPathogenic
PCDH15
(L368fs +3 more)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
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