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Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLXND1
(P957L)
Single nucleotide variant
(missense variant)
Congenital heart defects, multiple types, 9
GUncertain significance
PLXND1
(T747M)
Single nucleotide variant
(missense variant)
Congenital heart defects, multiple types, 9
GUncertain significance
PLXND1
(Q294fs)
Microsatellite
(frameshift variant)
Congenital heart defects, multiple types, 9
GPathogenic
PLXND1
(I911M)
Single nucleotide variant
(missense variant)
Congenital heart defects, multiple types, 9
GPathogenic
PLXND1
(S218C)
Single nucleotide variant
(missense variant)
Congenital heart defects, multiple types, 9
GPathogenic
LOC112872301, PLXND1
(I1775F)
Single nucleotide variant
(missense variant)
Congenital heart defects, multiple types, 9
GPathogenic
PLXND1
Single nucleotide variant
(missense variant)
Congenital heart defects, multiple types, 9
GPathogenic
PLXND1
(T755A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
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