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Links from MedGen

Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLD1
Single nucleotide variant
(splice donor variant)
Cardiac valvular defect, developmental
GUncertain significance
PLD1
(R1032* +1 more)
Single nucleotide variant
(nonsense)
Cardiac valvular defect, developmental
GLikely pathogenic
PLD1
(V468D)
Single nucleotide variant
(missense variant)
Cardiac valvular defect, developmental
GLikely pathogenic
PLD1
Single nucleotide variant
(splice acceptor variant)
Cardiac valvular defect, developmental
GLikely pathogenic
PLD1
(Q830* +1 more)
Single nucleotide variant
(nonsense)
Cardiac valvular defect, developmental
GLikely pathogenic
PLD1
(T94A)
Single nucleotide variant
(missense variant)
Cardiac valvular defect, developmental
GUncertain significance
PLD1
(R674W +1 more)
Single nucleotide variant
(missense variant)
Cardiac valvular defect, developmental
GUncertain significance
PLD1
(I724V +1 more)
Single nucleotide variant
(missense variant)
Cardiac valvular defect, developmental
GUncertain significance
PLD1
(G834S +1 more)
Single nucleotide variant
(missense variant)
Cardiac valvular defect, developmental
+2 more
GUncertain significance
PLD1
(R637W +1 more)
Single nucleotide variant
(missense variant)
Cardiac valvular defect, developmental
GLikely pathogenic
PLD1
(D623V +1 more)
Single nucleotide variant
(missense variant)
Cardiac valvular defect, developmental
+1 more
GUncertain significance
PLD1
(A622S)
Single nucleotide variant
(missense variant +1 more)
Cardiac valvular defect, developmental
+1 more
GBenign
PLD1
Single nucleotide variant
(synonymous variant)
Cardiac valvular defect, developmental
+1 more
GBenign
PLD1
(R298Q)
Single nucleotide variant
(missense variant)
Cardiac valvular defect, developmental
+1 more
GUncertain significance
PLD1
(I819V +1 more)
Single nucleotide variant
(missense variant)
Cardiac valvular defect, developmental
+1 more
GConflicting classifications of pathogenicity
PLD1
Single nucleotide variant
(splice donor variant)
Cardiac valvular defect, developmental
+1 more
GConflicting classifications of pathogenicity
PLD1
(A515T)
Single nucleotide variant
(missense variant)
Cardiac valvular defect, developmental
GUncertain significance
PLD1
(R440H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PLD1
(R31W)
Single nucleotide variant
(missense variant)
Cardiac valvular defect, developmental
GUncertain significance
PLD1
(S167fs)
Deletion
(frameshift variant)
Cardiac valvular defect, developmental
GLikely pathogenic
PLD1
(R407*)
Single nucleotide variant
(nonsense)
Cardiac valvular defect, developmental
GLikely pathogenic
PLD1
Single nucleotide variant
(splice donor variant)
Cardiac valvular defect, developmental
GPathogenic
PLD1
(T495fs)
Microsatellite
(frameshift variant)
not provided
GLikely pathogenic
PLD1
(H442P)
Single nucleotide variant
(missense variant)
Cardiac valvular defect, developmental
GPathogenic
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