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Links from MedGen

Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMAD2
(R152fs +1 more)
Duplication
(frameshift variant)
Congenital heart defects, multiple types, 8, with or without heterotaxy
GPathogenic
SMAD2
Single nucleotide variant
(intron variant)
Congenital heart defects, multiple types, 8, with or without heterotaxy
GPathogenic
SMAD2
Single nucleotide variant
(synonymous variant)
Loeys-Dietz syndrome 6
+4 more
GBenign
SMAD2
(E159* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
SMAD2
(C282S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GPathogenic
SMAD2
(W244C +1 more)
Single nucleotide variant
(missense variant)
Congenital heart defects, multiple types, 8, with or without heterotaxy
GPathogenic
SMAD2
Single nucleotide variant
(splice donor variant)
Congenital heart defects, multiple types, 8, with or without heterotaxy
GPathogenic
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