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Links from MedGen

Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLT4
Single nucleotide variant
(intron variant)
Congenital heart defects, multiple types, 7
GUncertain significance
FLT4
(E100fs)
Deletion
(frameshift variant)
Congenital heart defects, multiple types, 7
GLikely pathogenic
FLT4
Single nucleotide variant
(splice acceptor variant)
Congenital heart defects, multiple types, 7
GLikely pathogenic
FLT4
(P922L)
Single nucleotide variant
(missense variant)
Congenital heart defects, multiple types, 7
GUncertain significance
FLT4
(G975fs)
Deletion
(frameshift variant)
Congenital heart defects, multiple types, 7
GLikely pathogenic
FLT4
(R1060Q)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
FLT4
(Y585*)
Single nucleotide variant
(nonsense)
Congenital heart defects, multiple types, 7
GPathogenic
FLT4
(R1070L)
Single nucleotide variant
(missense variant)
Congenital heart defects, multiple types, 7
GUncertain significance
FLT4
(R318*)
Single nucleotide variant
(nonsense)
Congenital heart defects, multiple types, 7
GLikely pathogenic
FLT4
(R82*)
Single nucleotide variant
(nonsense)
Congenital heart defects, multiple types, 7
GPathogenic
FLT4
(Q542fs)
Duplication
(frameshift variant)
Congenital heart defects, multiple types, 7
GPathogenic
FLT4
(Q1192*)
Single nucleotide variant
(nonsense)
Congenital heart defects, multiple types, 7
GPathogenic
FLT4
Deletion
(splice acceptor variant +1 more)
Congenital heart defects, multiple types, 7
GPathogenic
FLT4
(P30fs)
Deletion
(frameshift variant)
not provided
GPathogenic
FLT4
Single nucleotide variant
(nonsense)
Congenital heart defects, multiple types, 7
GPathogenic
FLT4
Single nucleotide variant
(intron variant)
Hereditary lymphedema type I
+3 more
GBenign
FLT4
Single nucleotide variant
(synonymous variant)
Hereditary lymphedema type I
+3 more
GBenign
FLT4
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
FLT4
(H890Q)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
FLT4, LOC126807632
Single nucleotide variant
(intron variant)
Hereditary lymphedema type I
+2 more
GBenign
FLT4
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
FLT4
Single nucleotide variant
(intron variant)
Hereditary lymphedema type I
+3 more
GBenign
FLT4
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
FLT4
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
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