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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZNF513
(C289S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZNF513
(V261M +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 58
+2 more
GConflicting classifications of pathogenicity
ZNF513
(R242C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZNF513
(C183R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZNF513
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ZNF513
(A97V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ZNF513
(D26V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
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