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Links from Gene

Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
F13A1
(Q691*)
Single nucleotide variant
(nonsense)
Factor XIII, A subunit, deficiency of
GLikely pathogenic
F13A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
F13A1
(E201K)
Single nucleotide variant
(missense variant)
Factor XIII, A subunit, deficiency of
GUncertain significance
F13A1
(R224fs)
Deletion
(frameshift variant)
Factor XIII, A subunit, deficiency of
GLikely pathogenic
F13A1
(D477G)
Single nucleotide variant
(missense variant)
Factor XIII, A subunit, deficiency of
GUncertain significance
F13A1
(G639fs)
Deletion
(frameshift variant)
Factor XIII, A subunit, deficiency of
GLikely pathogenic
F13A1
(Q469fs)
Microsatellite
(frameshift variant)
Factor XIII, A subunit, deficiency of
GPathogenic
F13A1
(K62N)
Single nucleotide variant
(missense variant)
Factor XIII, A subunit, deficiency of
GUncertain significance
F13A1
(G263R)
Single nucleotide variant
(missense variant)
Factor XIII, A subunit, deficiency of
GUncertain significance
F13A1
(F433V)
Single nucleotide variant
(missense variant)
Factor XIII, A subunit, deficiency of
GUncertain significance
F13A1
(G449A)
Single nucleotide variant
(missense variant)
Factor XIII, A subunit, deficiency of
GUncertain significance
F13A1
(G511S)
Single nucleotide variant
(missense variant)
Factor XIII, A subunit, deficiency of
GUncertain significance
F13A1
(V637I)
Single nucleotide variant
(missense variant)
Factor XIII, A subunit, deficiency of
GUncertain significance
F13A1
(R383S)
Single nucleotide variant
(missense variant)
Abnormal bleeding
+1 more
GUncertain significance
F13A1
Single nucleotide variant
(splice donor variant)
Factor XIII, A subunit, deficiency of
GPathogenic
F13A1
(W188L)
Single nucleotide variant
(missense variant)
Hereditary factor XIII deficiency disease
GPathogenic
F13A1
Single nucleotide variant
(intron variant)
not specified
GBenign
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