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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABLIM3, ACSL6
+1672 more
Copy number loss
See cases
GPathogenic
LOC129994992, LOC129994993
+1157 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACSL6
+1218 more
Copy number gain
See cases
GPathogenic
ABLIM3, ADRB2
+313 more
Copy number gain
See cases
GPathogenic
CARMN, MIR145
Single nucleotide variant
(non-coding transcript variant)
MIR145-related multisystemic smooth muscle dysfunction
GUncertain significance
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