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Items: 1 to 100 of 916

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC132088675, LOC132088682
+1585 more
Copy number gain
See cases
GPathogenic
ADAMTS4, ADCY10
+775 more
Copy number gain
See cases
GPathogenic
OR10Z1, SPTA1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 3
+2 more
GUncertain significance
SPTA1, OR10Z1
Deletion
(3 prime UTR variant)
Elliptocytosis
+2 more
GLikely benign
OR10Z1, SPTA1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 3
+2 more
GUncertain significance
OR10Z1, SPTA1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 3
+2 more
GConflicting classifications of pathogenicity
OR10Z1, SPTA1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 3
+2 more
GUncertain significance
OR10Z1, SPTA1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 3
+2 more
GUncertain significance
OR10Z1, SPTA1
Single nucleotide variant
(3 prime UTR variant)
Elliptocytosis 2
+2 more
GUncertain significance
OR10Z1, SPTA1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 3
+2 more
GUncertain significance
OR10Z1, SPTA1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 3
+2 more
GUncertain significance
OR10Z1, SPTA1
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign
OR10Z1, SPTA1
Single nucleotide variant
(3 prime UTR variant)
Elliptocytosis 2
+2 more
GUncertain significance
OR10Z1, SPTA1
Single nucleotide variant
(3 prime UTR variant)
Hereditary spherocytosis type 3
+3 more
GBenign
OR10Z1, SPTA1
Single nucleotide variant
(3 prime UTR variant)
Elliptocytosis 2
+3 more
GBenign
OR10Z1, SPTA1
Single nucleotide variant
(3 prime UTR variant)
Elliptocytosis 2
+2 more
GUncertain significance
OR10Z1, SPTA1
Microsatellite
(3 prime UTR variant)
Elliptocytosis
+2 more
GUncertain significance
OR10Z1, SPTA1
Microsatellite
(3 prime UTR variant)
Elliptocytosis
+2 more
GUncertain significance
OR10Z1, SPTA1
Microsatellite
(3 prime UTR variant)
Elliptocytosis
+2 more
GUncertain significance
OR10Z1, SPTA1
Microsatellite
(3 prime UTR variant)
Elliptocytosis
+2 more
GUncertain significance
SPTA1, OR10Z1
Single nucleotide variant
(3 prime UTR variant)
Elliptocytosis 2
+2 more
GUncertain significance
OR10Z1, SPTA1
Microsatellite
(3 prime UTR variant)
Elliptocytosis
+2 more
GUncertain significance
SPTA1, OR10Z1
Microsatellite
(3 prime UTR variant)
Elliptocytosis
+2 more
GUncertain significance
OR10Z1, SPTA1
Microsatellite
(3 prime UTR variant)
Elliptocytosis
+2 more
GUncertain significance
OR10Z1, SPTA1
Insertion
(3 prime UTR variant)
Pyropoikilocytosis, hereditary
+2 more
GUncertain significance
OR10Z1, SPTA1
Single nucleotide variant
(3 prime UTR variant)
Pyropoikilocytosis, hereditary
+2 more
GConflicting classifications of pathogenicity
OR10Z1, SPTA1
Single nucleotide variant
(3 prime UTR variant)
Elliptocytosis 2
+2 more
GUncertain significance
OR10Z1, SPTA1
(G2418fs)
Deletion
(3 prime UTR variant +1 more)
not provided
GUncertain significance
OR10Z1, SPTA1
(F2417S)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
OR10Z1, SPTA1
(N2414S)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
SPTA1, OR10Z1
(T2413S)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
+2 more
GUncertain significance
OR10Z1, SPTA1
(V2410I)
Single nucleotide variant
(missense variant)
Elliptocytosis 2
+3 more
GUncertain significance
OR10Z1, SPTA1
(R2401*)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely pathogenic
SPTA1, OR10Z1
(R2401G)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
OR10Z1, SPTA1
(G2400fs)
Deletion
(3 prime UTR variant +1 more)
not provided
GLikely pathogenic
SPTA1, OR10Z1
(G2400C)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
+2 more
GUncertain significance
OR10Z1, SPTA1
(D2397N)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
OR10Z1, SPTA1
(Y2395H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR10Z1, SPTA1
(Q2394fs)
Deletion
(3 prime UTR variant +1 more)
not provided
GLikely pathogenic
OR10Z1, SPTA1
(Q2394*)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
OR10Z1, SPTA1
(C2388R)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
OR10Z1, SPTA1
(L2380P)
Single nucleotide variant
(3 prime UTR variant +1 more)
SPTA1-related condition
GUncertain significance
SPTA1, OR10Z1
Indel
(3 prime UTR variant +1 more)
not provided
GLikely pathogenic
OR10Z1, SPTA1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely pathogenic
OR10Z1, SPTA1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
OR10Z1, SPTA1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
SPTA1
Duplication
(intron variant)
not provided
GBenign
SPTA1
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
SPTA1
(Q2378*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GLikely pathogenic
SPTA1
(E2374del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
SPTA1
(K2368N)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
SPTA1
(A2365V)
Inversion
(missense variant)
not provided
GUncertain significance
SPTA1
(A2365E)
Indel
(missense variant)
not provided
GUncertain significance
SPTA1
Single nucleotide variant
(synonymous variant)
Hereditary spherocytosis type 3
+4 more
GBenign
SPTA1
(L2364P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPTA1
(E2358K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPTA1
(I2357M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPTA1
(I2357V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SPTA1
(E2356D)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
+3 more
GConflicting classifications of pathogenicity
SPTA1
(Y2339C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPTA1
(K2331E)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
+4 more
GUncertain significance
SPTA1
Single nucleotide variant
(intron variant)
Hereditary spherocytosis type 3
+2 more
GUncertain significance
SPTA1
(R2330K)
Single nucleotide variant
(missense variant)
SPTA1-related condition
GUncertain significance
SPTA1
(P2328L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SPTA1
(A2325V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPTA1
(E2314K)
Single nucleotide variant
(missense variant)
not provided
GBenign
SPTA1
(M2309V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SPTA1
(C2299F)
Single nucleotide variant
(missense variant)
SPTA1-related condition
+4 more
GUncertain significance
SPTA1
(R2297W)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
+4 more
GConflicting classifications of pathogenicity
SPTA1
Deletion
(nonsense)
not provided
GPathogenic
SPTA1
(R2290H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPTA1
(R2290C)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
+3 more
GUncertain significance
SPTA1
(D2284G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
SPTA1
(D2284N)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
+3 more
GConflicting classifications of pathogenicity
SPTA1
Single nucleotide variant
(intron variant)
Hereditary spherocytosis type 3
+2 more
GUncertain significance
SPTA1
Deletion
(intron variant)
not provided
GUncertain significance
SPTA1
(E2271fs)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic
SPTA1
(I2265T)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
+4 more
GBenign
SPTA1
Duplication
(intron variant)
Elliptocytosis
+2 more
GUncertain significance
SPTA1
Duplication
(intron variant)
Spherocytosis, Recessive
+3 more
GConflicting classifications of pathogenicity
SPTA1
Duplication
(intron variant)
not provided
+3 more
GBenign/Likely benign
SPTA1
Duplication
(intron variant)
not provided
+5 more
GBenign/Likely benign
SPTA1
Deletion
(intron variant)
Elliptocytosis 2
+6 more
GBenign/Likely benign
SPTA1
Single nucleotide variant
(intron variant)
not provided
GBenign
SPTA1
Single nucleotide variant
(intron variant)
Hereditary spherocytosis
+1 more
GPathogenic
SPTA1
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
SPTA1
(Q2258R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPTA1
(R2251Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SPTA1
(L2250*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
SPTA1
(L2238F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPTA1
(G2237E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPTA1
(S2234N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SPTA1
(Y2233H)
Single nucleotide variant
(missense variant)
Hereditary spherocytosis type 3
GUncertain significance
SPTA1
(D2230G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SPTA1
(E2224D)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
SPTA1
(L2219P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SPTA1
(Q2212*)
Single nucleotide variant
(nonsense)
not specified
GUncertain significance
SPTA1
(R2211C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SPTA1
Single nucleotide variant
(synonymous variant)
Hereditary spherocytosis type 3
+2 more
GUncertain significance
SPTA1
Single nucleotide variant
(intron variant)
Hereditary spherocytosis type 3
+2 more
GUncertain significance
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