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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRPS1
(G1047* +3 more)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
TRPS1
(C920R +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TRPS1
(K779* +3 more)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
TRPS1
(K508* +3 more)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
TRPS1
(L302P +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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