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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HSPG2
(Q3188P +1 more)
Single nucleotide variant
(missense variant)
Schwartz-Jampel syndrome
GUncertain significance
HSPG2
(V1839A +1 more)
Single nucleotide variant
(missense variant)
Schwartz-Jampel syndrome
GUncertain significance