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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
USH2A, USH2A-AS1
(Q1408*)
Single nucleotide variant
(nonsense)
not specified
+5 more
GPathogenic
USH2A-AS1, USH2A
(P1178A)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 39
+4 more
GConflicting classifications of pathogenicity
USH2A, USH2A-AS1
Single nucleotide variant
(intron variant)
not provided
+2 more
GUncertain significance
USH2A, USH2A-AS1
(H1041Q)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
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