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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PCDH15
(R245* +3 more)
Single nucleotide variant
(nonsense)
not provided
+5 more
GPathogenic
USH1G
(D353N +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1G
+1 more
GUncertain significance
USH1G
(L233fs +1 more)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
USH1G
(T184A +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1G
+1 more
GUncertain significance
USH1G
(K130E +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
USH1G
(W64*)
Single nucleotide variant
(nonsense +1 more)
Usher syndrome type 1G
+1 more
GPathogenic/Likely pathogenic
USH1G
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GUncertain significance
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