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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VPS13B
(Q327*)
Single nucleotide variant
(nonsense +1 more)
Retinitis pigmentosa
+1 more
GPathogenic
VPS13B
(D2019fs +1 more)
Deletion
(frameshift variant)
Retinitis pigmentosa
+1 more
GPathogenic
VPS13B
(E2560K)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+4 more
GBenign/Likely benign
VPS13B
(Y2679* +1 more)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa
GPathogenic
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