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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC107303340, VHL
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
LOC107303340, VHL
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic
LOC107303340, VHL
(Q132*)
Single nucleotide variant
(nonsense +1 more)
Chuvash polycythemia
+2 more
GPathogenic
LOC107303340, VHL
(N150fs)
Deletion
(frameshift variant +1 more)
Von Hippel-Lindau syndrome
+2 more
GPathogenic/Likely pathogenic
LOC107303340, VHL
Single nucleotide variant
(splice acceptor variant)
Chuvash polycythemia
+2 more
GPathogenic
LOC107303340, VHL
(R161* +1 more)
Single nucleotide variant
(nonsense +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic
LOC107303340, VHL
(S168fs +1 more)
Insertion
(frameshift variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic/Likely pathogenic
LOC107303340, VHL
(K196* +1 more)
Single nucleotide variant
(nonsense +1 more)
Chuvash polycythemia
+2 more
GPathogenic
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