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Items: 1 to 100 of 275

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADTRP, ATXN1
+825 more
Copy number gain
See cases
GPathogenic
LOC129995681, LOC129995682
+643 more
Copy number gain
See cases
GPathogenic
BPHL, C6orf201
+314 more
Copy number loss
See cases
GPathogenic
ADTRP, ATXN1
+779 more
Copy number gain
See cases
GPathogenic
ADTRP, BLOC1S5
+612 more
Copy number loss
See cases
GPathogenic
LOC129995778, LOC129995779
+559 more
Copy number gain
See cases
GLikely pathogenic
ILRUN-AS1, IP6K3
+2582 more
Copy number gain
See cases
GPathogenic
BPHL, C6orf201
+347 more
Copy number loss
See cases
GPathogenic
SLC35B3, SMIM13
+510 more
Copy number gain
See cases
GLikely pathogenic
BLOC1S5, BLOC1S5-TXNDC5
+437 more
Copy number gain
See cases
GPathogenic
LOC129995802, LOC129995803
+573 more
Copy number gain
See cases
GPathogenic
BPHL, C6orf201
+312 more
Copy number loss
See cases
GPathogenic
LOC123575663, LOC123575664
+433 more
Copy number loss
See cases
GPathogenic
ADTRP, BLOC1S5
+537 more
Copy number gain
See cases
GPathogenic
ADTRP, ATXN1
+617 more
Copy number loss
See cases
GPathogenic
ABCF1, ABT1
+1340 more
Copy number gain
See cases
GPathogenic
LOC129995677, LOC129995678
+331 more
Copy number loss
See cases
GPathogenic
BLOC1S5, BLOC1S5-TXNDC5
+159 more
Copy number loss
See cases
GPathogenic
F13A1
Single nucleotide variant
(3 prime UTR variant)
Factor XIII, A subunit, deficiency of
GUncertain significance
F13A1
Single nucleotide variant
(3 prime UTR variant)
Factor XIII, A subunit, deficiency of
GUncertain significance
F13A1
Single nucleotide variant
(3 prime UTR variant)
Factor XIII, A subunit, deficiency of
GUncertain significance
F13A1
Single nucleotide variant
(3 prime UTR variant)
Factor XIII, A subunit, deficiency of
GUncertain significance
F13A1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GUncertain significance
F13A1
Single nucleotide variant
(3 prime UTR variant)
Factor XIII, A subunit, deficiency of
GUncertain significance
F13A1
Single nucleotide variant
(3 prime UTR variant)
Factor XIII, A subunit, deficiency of
GBenign
F13A1
Single nucleotide variant
(3 prime UTR variant)
Factor XIII, A subunit, deficiency of
GUncertain significance
F13A1
Single nucleotide variant
(3 prime UTR variant)
Factor XIII, A subunit, deficiency of
GUncertain significance
F13A1
Single nucleotide variant
(3 prime UTR variant)
Factor XIII, A subunit, deficiency of
GUncertain significance
F13A1
Single nucleotide variant
(3 prime UTR variant)
Factor XIII, A subunit, deficiency of
GUncertain significance
F13A1
Single nucleotide variant
(3 prime UTR variant)
Factor XIII, A subunit, deficiency of
GUncertain significance
F13A1
Single nucleotide variant
(3 prime UTR variant)
Factor XIII, A subunit, deficiency of
GBenign
F13A1
Single nucleotide variant
(3 prime UTR variant)
Factor XIII, A subunit, deficiency of
GUncertain significance
F13A1
Single nucleotide variant
(3 prime UTR variant)
Factor XIII, A subunit, deficiency of
GUncertain significance
F13A1
Single nucleotide variant
(3 prime UTR variant)
Factor XIII, A subunit, deficiency of
GUncertain significance
F13A1
Single nucleotide variant
(3 prime UTR variant)
Factor XIII, A subunit, deficiency of
GUncertain significance
F13A1
Single nucleotide variant
(3 prime UTR variant)
Factor XIII, A subunit, deficiency of
GUncertain significance
F13A1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GLikely benign
F13A1
Single nucleotide variant
(3 prime UTR variant)
Factor XIII, A subunit, deficiency of
GUncertain significance
F13A1
Single nucleotide variant
(3 prime UTR variant)
Factor XIII, A subunit, deficiency of
GUncertain significance
F13A1
Single nucleotide variant
(3 prime UTR variant)
Factor XIII, A subunit, deficiency of
GUncertain significance
F13A1
Single nucleotide variant
(3 prime UTR variant)
Factor XIII, A subunit, deficiency of
GBenign
F13A1
Single nucleotide variant
(3 prime UTR variant)
Factor XIII, A subunit, deficiency of
GUncertain significance
F13A1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
F13A1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
F13A1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GLikely benign
F13A1
Single nucleotide variant
(3 prime UTR variant)
Factor XIII, A subunit, deficiency of
GUncertain significance
F13A1
Single nucleotide variant
(3 prime UTR variant)
Factor XIII, A subunit, deficiency of
GBenign
F13A1
Single nucleotide variant
(3 prime UTR variant)
Factor XIII, A subunit, deficiency of
GUncertain significance
F13A1
Single nucleotide variant
(3 prime UTR variant)
Factor XIII, A subunit, deficiency of
GUncertain significance
F13A1
(M732K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
F13A1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
F13A1
Single nucleotide variant
(synonymous variant)
F13A1-related disorder
GLikely benign
F13A1
(H717R)
Single nucleotide variant
(missense variant)
Factor XIII, A subunit, deficiency of
GUncertain significance
F13A1
(R704W)
Single nucleotide variant
(missense variant)
Factor XIII, A subunit, deficiency of
GPathogenic
F13A1
(W699G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
F13A1
(Q691*)
Single nucleotide variant
(nonsense)
Factor XIII, A subunit, deficiency of
GLikely pathogenic
F13A1
(V690M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
F13A1
Single nucleotide variant
(synonymous variant)
Factor XIII, A subunit, deficiency of
GUncertain significance
F13A1
(T689I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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
(R682H)
Single nucleotide variant
(missense variant)
Factor XIII, A subunit, deficiency of
GPathogenic
F13A1
(K679M)
Single nucleotide variant
(missense variant)
Factor XIII, A subunit, deficiency of
GUncertain significance
F13A1
(K678E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
F13A1
(M677V)
Single nucleotide variant
(missense variant)
Factor XIII, A subunit, deficiency of
+1 more
GUncertain significance
F13A1
Single nucleotide variant
(synonymous variant)
Factor XIII, A subunit, deficiency of
GUncertain significance
F13A1
(R662*)
Single nucleotide variant
(nonsense)
F13A1-related disorder
GPathogenic
F13A1
(L661V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
F13A1
(T654S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
F13A1
(E652Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
F13A1
(V651I)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
F13A1
(G639fs)
Deletion
(frameshift variant)
Factor XIII, A subunit, deficiency of
GLikely pathogenic
F13A1
(V637I)
Single nucleotide variant
(missense variant)
Factor XIII, A subunit, deficiency of
GUncertain significance
F13A1
Single nucleotide variant
(intron variant)
Factor XIII, A subunit, deficiency of
+1 more
GBenign
F13A1
Single nucleotide variant
(intron variant)
not provided
GBenign
F13A1
Single nucleotide variant
(intron variant)
not provided
GBenign
F13A1, LOC101928004
+19 more
Copy number gain
See cases
GUncertain significance
F13A1
Deletion
(intron variant)
not provided
GBenign
F13A1
Deletion
(intron variant)
not provided
GBenign
F13A1
Deletion
(intron variant)
not provided
GBenign
F13A1
Single nucleotide variant
(intron variant)
not provided
GBenign
F13A1
(V627M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
F13A1
(K622R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
F13A1
(K622E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
F13A1
Single nucleotide variant
(synonymous variant)
F13A1-related disorder
GLikely benign
F13A1
(A621S)
Indel
(missense variant)
Thrombophilia due to thrombin defect
GUncertain significance
F13A1
(A621S)
Single nucleotide variant
(missense variant)
Myocardial infarction, susceptibility to
+2 more
GUncertain significance
F13A1
Single nucleotide variant
(synonymous variant)
Factor XIII, A subunit, deficiency of
+1 more
GConflicting classifications of pathogenicity
F13A1
(R612H)
Single nucleotide variant
(missense variant)
F13A1-related disorder
GUncertain significance
F13A1
Single nucleotide variant
(synonymous variant)
F13A1-related disorder
GLikely benign
F13A1
(H606fs)
Deletion
(frameshift variant)
Factor XIII, A subunit, deficiency of
GPathogenic
F13A1
(A603V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
F13A1
(Q602*)
Single nucleotide variant
(nonsense)
Factor XIII, A subunit, deficiency of
GLikely pathogenic
F13A1
(L599P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
F13A1
(E594D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
F13A1
(E594K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
F13A1
(G593S)
Single nucleotide variant
(missense variant)
Factor XIII, A subunit, deficiency of
+1 more
GConflicting classifications of pathogenicity
F13A1
(L589Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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