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Links from MedGen

Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NUP153
(Q313L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BCLAF1
(R269S +1 more)
Single nucleotide variant
(missense variant +1 more)
Pulmonary artery atresia
GPathogenic
HLA-DRB1
(E81V)
Single nucleotide variant
(missense variant)
Pulmonary artery atresia
GPathogenic
CTBP2
(G117S +2 more)
Single nucleotide variant
(missense variant)
Pulmonary artery atresia
GPathogenic
ARHGAP5
(V474A)
Single nucleotide variant
(missense variant)
Pulmonary artery atresia
GPathogenic
CDC27
(A195T +5 more)
Single nucleotide variant
(missense variant +1 more)
Pulmonary artery atresia
GPathogenic
CNN2
(G224S +3 more)
Single nucleotide variant
(missense variant)
Pulmonary artery atresia
GPathogenic
CNN2
(R227Q +3 more)
Single nucleotide variant
(missense variant)
Pulmonary artery atresia
GPathogenic
PABPC1
(L562S)
Single nucleotide variant
(missense variant)
Pulmonary artery atresia
GPathogenic
CTBP2
(T182M +2 more)
Single nucleotide variant
(missense variant)
Pulmonary artery atresia
GPathogenic
CTBP2
(V223M +2 more)
Single nucleotide variant
(missense variant)
Pulmonary artery atresia
GPathogenic
BCLAF1
(Q163K +1 more)
Single nucleotide variant
(missense variant +1 more)
Pulmonary artery atresia
GPathogenic
FRG1
(A108T)
Single nucleotide variant
(missense variant)
Pulmonary artery atresia
GPathogenic
SDHA
(V398A +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
CTBP2
(K8*)
Single nucleotide variant
(nonsense)
not specified
GBenign
SDHA
(A449V +1 more)
Single nucleotide variant
(missense variant)
Paragangliomas 5
GUncertain significance
CHD7
(Q505*)
Single nucleotide variant
(nonsense)
CHARGE association
+4 more
GPathogenic
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