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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
B4GAT1, BRMS1
+72 more
Duplication
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
LOC130006094, SF3B2
(A26S)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign