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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EDA
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
EDA
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
EDA
(R153C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
EDA
Deletion
(inframe_deletion)
not provided
+2 more
GPathogenic
EDA
Deletion
(intron variant)
not provided
+2 more
GBenign
EDA
(Q247H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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