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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
QRICH1
(P661S)
Single nucleotide variant
(missense variant)
Ververi-Brady syndrome
GUncertain significance
QRICH1
(R234Q)
Single nucleotide variant
(missense variant)
Ververi-Brady syndrome
GUncertain significance
QRICH1
(P159H)
Single nucleotide variant
(missense variant)
Ververi-Brady syndrome
GUncertain significance
QRICH1
(Q98*)
Single nucleotide variant
(nonsense)
Ververi-Brady syndrome
GLikely pathogenic
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