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Links from MedGen

Items: 1 to 100 of 619

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
F5
(S1358P)
Single nucleotide variant
(missense variant)
Congenital factor V deficiency
GUncertain significance
F5
(S556N)
Single nucleotide variant
(missense variant)
Congenital factor V deficiency
GUncertain significance
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
(Y1593F)
Single nucleotide variant
(missense variant)
Congenital factor V deficiency
GUncertain significance
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(splice acceptor variant)
Congenital factor V deficiency
GLikely pathogenic
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
(V238E)
Single nucleotide variant
(missense variant)
Congenital factor V deficiency
GUncertain significance
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(intron variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
(P927fs)
Deletion
(frameshift variant)
Congenital factor V deficiency
GPathogenic
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
(W982*)
Single nucleotide variant
(nonsense)
Congenital factor V deficiency
GPathogenic
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(intron variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(intron variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(intron variant)
Congenital factor V deficiency
GLikely benign
F5
(W1882*)
Single nucleotide variant
(nonsense)
Congenital factor V deficiency
GPathogenic
F5
Single nucleotide variant
(intron variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(intron variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(intron variant)
Congenital factor V deficiency
GLikely benign
F5
(E200fs)
Deletion
(frameshift variant)
Congenital factor V deficiency
GPathogenic
F5
Single nucleotide variant
(intron variant)
Congenital factor V deficiency
GLikely benign
F5
(I324T)
Single nucleotide variant
(missense variant)
Congenital factor V deficiency
GUncertain significance
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(intron variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(intron variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(intron variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Duplication
(intron variant)
Congenital factor V deficiency
GBenign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
(Y1931*)
Single nucleotide variant
(nonsense)
Congenital factor V deficiency
GPathogenic
F5
(R1621*)
Single nucleotide variant
(nonsense)
Congenital factor V deficiency
GPathogenic
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(splice acceptor variant)
Congenital factor V deficiency
GLikely pathogenic
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
(K674fs)
Deletion
(frameshift variant)
Congenital factor V deficiency
GPathogenic
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
(M1274T)
Single nucleotide variant
(missense variant)
Congenital factor V deficiency
GUncertain significance
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
F5
Single nucleotide variant
(synonymous variant)
Congenital factor V deficiency
GLikely benign
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