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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FAT4
(F2863S +1 more)
Single nucleotide variant
(missense variant)
Hydrops fetalis
+6 more
GUncertain significance
FAT4
(A3896V +1 more)
Single nucleotide variant
(missense variant)
FAT4-related disorder
+8 more
GBenign/Likely benign
NIPBL
Deletion
(nonsense)
Cornelia de Lange syndrome 1
+9 more
GLikely pathogenic
BMPR2
(R983Q)
Single nucleotide variant
(missense variant)
Pulmonary arterial hypertension
GLikely benign
PTPN11
(Y62D +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GPathogenic
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