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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KCNA5
(G568V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
FBN1
(R1727Q)
Single nucleotide variant
(missense variant)
Heart disease
+3 more
GUncertain significance
RYR2
Single nucleotide variant
(intron variant)
Heart disease
+4 more
GUncertain significance
MYH6
(G859W)
Single nucleotide variant
(missense variant)
not provided
+8 more
GUncertain significance
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