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Links from MedGen

Items: 61

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
F13B
(G508del)
Microsatellite
(inframe_indel +1 more)
Factor XIII, b subunit, deficiency of
GUncertain significance
F13B
(H29L)
Single nucleotide variant
(missense variant)
Factor XIII, b subunit, deficiency of
GUncertain significance
F13B
(P386fs)
Duplication
(frameshift variant)
Factor XIII, b subunit, deficiency of
GPathogenic
F13B
(V360E)
Single nucleotide variant
(missense variant)
Factor XIII, b subunit, deficiency of
GUncertain significance
F13B
Single nucleotide variant
(splice donor variant)
Factor XIII, b subunit, deficiency of
GLikely pathogenic
F13B
(P144L)
Single nucleotide variant
(missense variant)
Factor XIII, b subunit, deficiency of
GUncertain significance
F13B
(D174V)
Single nucleotide variant
(missense variant)
Factor XIII, b subunit, deficiency of
GUncertain significance
F13B
(G189*)
Single nucleotide variant
(nonsense)
Factor XIII, b subunit, deficiency of
GPathogenic
F13B
(T209A)
Single nucleotide variant
(missense variant)
Factor XIII, b subunit, deficiency of
GUncertain significance
F13B
(W260L)
Single nucleotide variant
(missense variant)
Factor XIII, b subunit, deficiency of
GUncertain significance
F13B
(H294L)
Single nucleotide variant
(missense variant)
Factor XIII, b subunit, deficiency of
GUncertain significance
F13B
(A565T)
Single nucleotide variant
(missense variant)
Factor XIII, b subunit, deficiency of
GUncertain significance
F13B
(P648S)
Single nucleotide variant
(missense variant)
Factor XIII, b subunit, deficiency of
GUncertain significance
F13B
Single nucleotide variant
(5 prime UTR variant)
Factor XIII, b subunit, deficiency of
GUncertain significance
F13B
(G410R)
Single nucleotide variant
(missense variant)
Factor XIII, b subunit, deficiency of
GUncertain significance
F13B
Single nucleotide variant
(synonymous variant)
Factor XIII, b subunit, deficiency of
GUncertain significance
F13B
Single nucleotide variant
(synonymous variant)
Factor XIII, b subunit, deficiency of
GUncertain significance
F13B
Single nucleotide variant
(synonymous variant)
Factor XIII, b subunit, deficiency of
GUncertain significance
F13B
(T75M)
Single nucleotide variant
(missense variant)
Factor XIII, b subunit, deficiency of
GUncertain significance
F13B
(Y626C)
Single nucleotide variant
(missense variant)
Factor XIII, b subunit, deficiency of
GUncertain significance
F13B
(R645S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
F13B
(H225Q)
Single nucleotide variant
(missense variant)
Factor XIII, b subunit, deficiency of
GUncertain significance
F13B
(N272S)
Single nucleotide variant
(missense variant)
Factor XIII, b subunit, deficiency of
GUncertain significance
F13B
(Y292D)
Single nucleotide variant
(missense variant)
Factor XIII, b subunit, deficiency of
GUncertain significance
F13B
(I297L)
Single nucleotide variant
(missense variant)
Factor XIII, b subunit, deficiency of
GUncertain significance
F13B
(L369P)
Single nucleotide variant
(missense variant)
Factor XIII, b subunit, deficiency of
GUncertain significance
F13B
Single nucleotide variant
(synonymous variant)
Factor XIII, b subunit, deficiency of
+1 more
GConflicting classifications of pathogenicity
F13B
(H350R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
F13B
(L529P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
F13B
(Y100*)
Insertion
(nonsense)
Coagulation factor deficiency syndrome
GPathogenic
F13B
Single nucleotide variant
(5 prime UTR variant)
Factor XIII, b subunit, deficiency of
GUncertain significance
F13B
Single nucleotide variant
(synonymous variant)
Factor XIII, b subunit, deficiency of
GUncertain significance
F13B
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
F13B
(L216del)
Deletion
(inframe_deletion)
Factor XIII, b subunit, deficiency of
GUncertain significance
F13B
(V266L)
Single nucleotide variant
(missense variant)
Factor XIII, b subunit, deficiency of
GUncertain significance
F13B
(R293C)
Single nucleotide variant
(missense variant)
Factor XIII, b subunit, deficiency of
GUncertain significance
F13B
Single nucleotide variant
(intron variant)
Factor XIII, b subunit, deficiency of
GUncertain significance
F13B
(I342T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
F13B
(Y354H)
Single nucleotide variant
(missense variant)
Factor XIII, b subunit, deficiency of
GUncertain significance
F13B
Single nucleotide variant
(synonymous variant)
Factor XIII, b subunit, deficiency of
GUncertain significance
F13B
Single nucleotide variant
(synonymous variant)
Factor XIII, b subunit, deficiency of
GUncertain significance
F13B
(K382R)
Single nucleotide variant
(missense variant)
Factor XIII, b subunit, deficiency of
GUncertain significance
F13B
(E388V)
Single nucleotide variant
(missense variant)
Hereditary factor XIII deficiency disease
+2 more
GUncertain significance
F13B
(Y429H)
Single nucleotide variant
(missense variant)
Factor XIII, b subunit, deficiency of
GUncertain significance
F13B
Single nucleotide variant
(synonymous variant)
Factor XIII, b subunit, deficiency of
GUncertain significance
F13B
(H557R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
F13B
(D569E)
Single nucleotide variant
(missense variant)
Factor XIII, b subunit, deficiency of
+1 more
GBenign/Likely benign
F13B
Microsatellite
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
F13B
Single nucleotide variant
(synonymous variant)
Factor XIII, b subunit, deficiency of
+1 more
GConflicting classifications of pathogenicity
F13B
(M634I)
Single nucleotide variant
(missense variant)
Factor XIII, b subunit, deficiency of
GUncertain significance
F13B
(S654F)
Single nucleotide variant
(missense variant)
Factor XIII, b subunit, deficiency of
GUncertain significance
F13B
Single nucleotide variant
(3 prime UTR variant)
Factor XIII, b subunit, deficiency of
GLikely benign
F13B
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
F13B
Single nucleotide variant
(3 prime UTR variant)
Factor XIII, b subunit, deficiency of
GUncertain significance
F13B
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
F13B
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
F13B
Single nucleotide variant
(intron variant)
not specified
+1 more
GConflicting classifications of pathogenicity
F13B
(E500fs)
Deletion
(frameshift variant)
Factor XIII, b subunit, deficiency of
GPathogenic
F13B
(R115H)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
F13B
(C450F)
Single nucleotide variant
(missense variant)
Factor XIII, b subunit, deficiency of
GPathogenic
F13B
Deletion
(splice acceptor variant)
Factor XIII, b subunit, deficiency of
GPathogenic
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