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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAP3K2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MAP3K2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ERCC3, PROC
+14 more
Deletion
Thrombophilia due to protein C deficiency, autosomal dominant
GPathogenic
POLR2D, PROC
+15 more
Deletion
not provided
GPathogenic
BIN1, CYP27C1
+7 more
Deletion
Autosomal recessive limb-girdle muscular dystrophy type 2W
+1 more
GUncertain significance
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