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Items: 1 to 100 of 318

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC121740684, LOC121740685
+4735 more
Copy number loss
See cases
GPathogenic
LOC111674474, LOC111674475
+2212 more
Copy number gain
See cases
GPathogenic
LOC129999548, LOC129999549
+1547 more
Copy number gain
See cases
GPathogenic
LOC129999653, LOC129999654
+1380 more
Copy number gain
See cases
GPathogenic
C7orf33, CALD1
+1176 more
Copy number gain
See cases
GPathogenic
LOC129999666, LOC129999667
+1052 more
Copy number gain
See cases
GPathogenic
TMEM140, TMEM176A
+1046 more
Copy number gain
See cases
GPathogenic
LOC129999503, LOC129999504
+1025 more
Copy number gain
See cases
GPathogenic
LINC00996, LINC01003
+1025 more
Copy number gain
See cases
GPathogenic
ABCB8, ABCF2
+1019 more
Copy number gain
See cases
GPathogenic
WDR86, WDR86-AS1
+944 more
Copy number loss
See cases
GPathogenic
TRBC2, TRBD1
+455 more
Copy number loss
See cases
GPathogenic
ADCK2, AGK
+373 more
Copy number loss
See cases
GPathogenic
LOC129999526, LOC129999527
+908 more
Copy number gain
See cases
GPathogenic
AGAP3, AGK
+888 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
ABCB8, ABCF2
+692 more
Copy number gain
See cases
GPathogenic
DYNC2I1, EN2
+847 more
Copy number gain
Neurodevelopmental disorder
GLikely pathogenic
ATP6V0A4, CLEC2L
+86 more
Copy number gain
See cases
GUncertain significance
CLEC2L, HIPK2
+53 more
Copy number loss
See cases
GUncertain significance
TBXAS1
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC126860199, TBXAS1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LOC126860199, TBXAS1
(M2T +1 more)
Single nucleotide variant
(missense variant +3 more)
Inborn genetic diseases
+1 more
GUncertain significance
LOC126860199, TBXAS1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
LOC126860199, TBXAS1
(V12M +1 more)
Single nucleotide variant
(intron variant +2 more)
not provided
GUncertain significance
LOC126860199, TBXAS1
(V11L)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
LOC126860199, TBXAS1
(T18M +1 more)
Single nucleotide variant
(missense variant +2 more)
TBXAS1-related disorder
+1 more
GUncertain significance
LOC126860199, TBXAS1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GUncertain significance
TBXAS1, LOC126860199
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
LOC126860199, TBXAS1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign
TBXAS1
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
TBXAS1
(S35L +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
TBXAS1
(K9R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TBXAS1
(E12fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
TBXAS1
(T58R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TBXAS1
(P31L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
TBXAS1
(R60H)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
TBXAS1
(R60L)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TBXAS1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
TBXAS1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
TBXAS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TBXAS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TBXAS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TBXAS1
Microsatellite
(intron variant)
not provided
GLikely benign
TBXAS1
(G33V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TBXAS1
(E65* +1 more)
Single nucleotide variant
(nonsense +2 more)
Ghosal hematodiaphyseal dysplasia
GPathogenic
TBXAS1
(E65K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TBXAS1
(N39H +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
TBXAS1
(L3F +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
TBXAS1
(W46* +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TBXAS1
(R53K)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
TBXAS1
Microsatellite
(intron variant)
not provided
GBenign
TBXAS1
Microsatellite
(intron variant +1 more)
not provided
GLikely benign
TBXAS1
Single nucleotide variant
(intron variant)
TBXAS1-related disorder
GLikely benign
TBXAS1
Duplication
(intron variant)
not provided
GBenign
TBXAS1
(Y81H +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TBXAS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TBXAS1
(L15P +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TBXAS1
(G16R +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TBXAS1
(R65L +2 more)
Single nucleotide variant
(missense variant +1 more)
Thromboxane synthetase deficiency
+1 more
GUncertain significance
TBXAS1
(I21T +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TBXAS1
(V90I +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TBXAS1
(E25K +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TBXAS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TBXAS1
(V101G +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TBXAS1
(V101D +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TBXAS1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
TBXAS1
Deletion
(intron variant)
not provided
GLikely benign
TBXAS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TBXAS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TBXAS1
Insertion
(intron variant)
not provided
GLikely benign
TBXAS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TBXAS1
Single nucleotide variant
(intron variant)
not provided
GBenign
TBXAS1
(R134Q)
Single nucleotide variant
(missense variant +1 more)
TBXAS1-related disorder
GLikely benign
TBXAS1
Insertion
(intron variant)
not provided
GLikely benign
TBXAS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TBXAS1
Single nucleotide variant
(intron variant)
not provided
GBenign
TBXAS1
(A112V +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TBXAS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TBXAS1
(S113L +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
TBXAS1
(S58L +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBXAS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TBXAS1
Single nucleotide variant
(synonymous variant)
TBXAS1-related disorder
+2 more
GBenign/Likely benign
TBXAS1
(A121T +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBXAS1
(D55N +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBXAS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TBXAS1
(V105I +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TBXAS1
(R109C +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBXAS1
(W113* +4 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
TBXAS1
Single nucleotide variant
(synonymous variant)
TBXAS1-related disorder
+1 more
GLikely benign
TBXAS1
(K80N +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TBXAS1
Single nucleotide variant
(synonymous variant)
TBXAS1-related disorder
+1 more
GBenign/Likely benign
TBXAS1
(E151K +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBXAS1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
TBXAS1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
TBXAS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TBXAS1
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
TBXAS1
(I156N +6 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TBXAS1
(A139D +6 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TBXAS1
Variation
(no sequence alteration)
not provided
GBenign
TBXAS1
(D141E +4 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign/Likely benign
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