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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PMEL, PPP1R1A
+219 more
Copy number gain
See cases
GPathogenic
GDF11
(A52S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GDF11
(R312C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GDF11
Duplication
(inframe_insertion)
not provided
GUncertain significance
GDF11
(Q250*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
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