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Links from Gene

Items: 1 to 100 of 275

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
F13A1
(Q691*)
Single nucleotide variant
(nonsense)
Factor XIII, A subunit, deficiency of
GLikely pathogenic
F13A1
(A23V)
Single nucleotide variant
(missense variant)
F13A1-related disorder
GUncertain significance
F13A1
Single nucleotide variant
(synonymous variant)
F13A1-related disorder
GLikely benign
F13A1
(R612H)
Single nucleotide variant
(missense variant)
F13A1-related disorder
GUncertain significance
F13A1
(G216R)
Single nucleotide variant
(missense variant)
F13A1-related disorder
GUncertain significance
F13A1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
F13A1
Deletion
Factor XIII, A subunit, deficiency of
GPathogenic
F13A1
(K678E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
F13A1
(S50N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
F13A1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
F13A1
(V525A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
F13A1
(F231I)
Single nucleotide variant
(missense variant)
Factor XIII, A subunit, deficiency of
GUncertain significance
F13A1
(R144W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
F13A1
(M732K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
F13A1
(K622R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
F13A1
(A603V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
F13A1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
F13A1
(G471R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
F13A1
(S291W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
F13A1
(L599P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
F13A1
Single nucleotide variant
(synonymous variant)
F13A1-related disorder
GLikely benign
F13A1
Single nucleotide variant
(synonymous variant)
F13A1-related disorder
GLikely benign
F13A1
(L250P)
Single nucleotide variant
(missense variant)
F13A1-related disorder
GUncertain significance
F13A1
Single nucleotide variant
(synonymous variant)
F13A1-related disorder
GLikely benign
F13A1
Single nucleotide variant
(synonymous variant)
F13A1-related disorder
GLikely benign
F13A1
Single nucleotide variant
(synonymous variant)
F13A1-related disorder
GLikely benign
F13A1
(V40I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
F13A1
Single nucleotide variant
(synonymous variant)
F13A1-related disorder
GLikely benign
F13A1
Single nucleotide variant
(5 prime UTR variant)
F13A1-related disorder
GLikely benign
F13A1
Single nucleotide variant
(5 prime UTR variant)
F13A1-related disorder
GLikely benign
F13A1
Single nucleotide variant
(synonymous variant)
F13A1-related disorder
GLikely benign
F13A1
Deletion
(intron variant)
F13A1-related disorder
GLikely benign
F13A1
(S174fs)
Deletion
(frameshift variant)
F13A1-related disorder
GPathogenic
F13A1
(G274R)
Single nucleotide variant
(missense variant)
Factor XIII, A subunit, deficiency of
GLikely pathogenic
ADTRP, BLOC1S5
+73 more
Copy number gain
not provided
GPathogenic
F13A1
(R78C)
Single nucleotide variant
(missense variant)
Factor XIII, A subunit, deficiency of
GPathogenic
F13A1
(E201K)
Single nucleotide variant
(missense variant)
Factor XIII, A subunit, deficiency of
GUncertain significance
F13A1
Single nucleotide variant
(splice donor variant)
F13A1-related disorder
GPathogenic
F13A1
(V576M)
Single nucleotide variant
(missense variant)
F13A1-related disorder
+1 more
GUncertain significance
F13A1
(G129R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
F13A1
(I106T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
F13A1
(Y215F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
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
(G421S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
F13A1
(C424Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
F13A1
(T450I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
F13A1
(A395T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
F13A1
(R79*)
Single nucleotide variant
(nonsense)
Factor XIII, A subunit, deficiency of
GLikely pathogenic
F13A1
(H717R)
Single nucleotide variant
(missense variant)
Factor XIII, A subunit, deficiency of
GUncertain significance
F13A1
(A621S)
Indel
(missense variant)
Thrombophilia due to thrombin defect
GUncertain significance
F13A1
(Y241*)
Single nucleotide variant
(nonsense)
Factor XIII, A subunit, deficiency of
GLikely pathogenic
F13A1
Single nucleotide variant
(splice donor variant)
Factor XIII, A subunit, deficiency of
GLikely pathogenic
F13A1
(P177Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
F13A1
(Y286C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
F13A1
(V36A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
F13A1
(G263V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
F13A1
(M513K)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
F13A1
(T654S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
F13A1
(T689I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
F13A1
(K622E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
F13A1
(W699G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
F13A1
(E594D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
F13A1
(T116N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
F13A1
(E594K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
F13A1
(V690M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
F13A1
(G639fs)
Deletion
(frameshift variant)
Factor XIII, A subunit, deficiency of
GLikely pathogenic
F13A1
(G313R)
Single nucleotide variant
(missense variant)
Factor XIII, A subunit, deficiency of
GLikely pathogenic
F13A1, FARS2
+1 more
Duplication
Combined oxidative phosphorylation defect type 14
GUncertain significance
F13A1, FARS2
+2 more
Deletion
Combined oxidative phosphorylation defect type 14
GPathogenic
F13A1
(L661V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
F13A1
(R108H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
F13A1
(Q488E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
F13A1
(V627M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
F13A1
(S146T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
F13A1
(T559N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
F13A1
(D405N)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
F13A1
(T459N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
F13A1
(Q469E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
F13A1
(A429V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ADTRP, ATXN1
+89 more
Copy number gain
See cases
GPathogenic
F13A1
(F9fs)
Deletion
(frameshift variant)
Factor XIII, A subunit, deficiency of
+1 more
GPathogenic
F13A1
(L276F)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
F13A1
(Y501*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
F13A1
(L236R)
Single nucleotide variant
(missense variant)
Factor XIII, A subunit, deficiency of
GUncertain significance
F13A1
(A379P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
F13A1
(I154fs)
Insertion
(frameshift variant)
Factor XIII, A subunit, deficiency of
GPathogenic
F13A1
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
F13A1
(Q469fs)
Microsatellite
(frameshift variant)
Factor XIII, A subunit, deficiency of
GPathogenic
F13A1
(R541Q)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
F13A1
Duplication
(intron variant)
not provided
GBenign
F13A1
Single nucleotide variant
(intron variant)
not provided
GBenign
F13A1
Single nucleotide variant
(intron variant)
not provided
GBenign
F13A1
Single nucleotide variant
(intron variant)
not provided
GBenign
F13A1
Single nucleotide variant
(intron variant)
not provided
GBenign
F13A1
Single nucleotide variant
(intron variant)
not provided
GBenign
F13A1
Duplication
(intron variant)
not provided
GBenign
F13A1
Single nucleotide variant
(intron variant)
not provided
GBenign
F13A1
Single nucleotide variant
(intron variant)
not provided
GBenign
F13A1
Single nucleotide variant
(intron variant)
not provided
GBenign
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