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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BMP2
(S351C)
Single nucleotide variant
(missense variant)
Atrial septal defect 1
GPathogenic
TGFB2
(P338T +1 more)
Single nucleotide variant
(missense variant +1 more)
Atrial septal defect 1
GPathogenic
FOXP1
(P492H +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TPM1
(S229F +2 more)
Single nucleotide variant
(missense variant)
Atrial septal defect 1
GLikely pathogenic
TBX5
(W148* +1 more)
Single nucleotide variant
(nonsense)
Atrial septal defect 1
+1 more
GPathogenic
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