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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMAD6
Single nucleotide variant
(synonymous variant +1 more)
Aortic valve disease 2
+1 more
GLikely benign
SMAD6
(S27G)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
+1 more
GLikely benign
SMAD6
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+2 more
GBenign/Likely benign
SMAD6
(D440N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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