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Items: 1 to 100 of 230

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130065566, LOC130065567
+2522 more
Copy number gain
See cases
GPathogenic
LOC125387319, LOC125387320
+1024 more
Copy number gain
See cases
GPathogenic
ABHD16B, ADRM1
+553 more
Copy number gain
See cases
GLikely pathogenic
ANKRD60, APCDD1L
+175 more
Copy number gain
See cases
GLikely pathogenic
ABHD16B, ADRM1
+491 more
Copy number gain
See cases
GPathogenic
LOC130066376, LOC130066377
+464 more
Copy number gain
See cases
GPathogenic
TUBB1
Single nucleotide variant
(5 prime UTR variant)
Macrothrombocytopenia, isolated, 1, autosomal dominant
GUncertain significance
TUBB1
(M1I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TUBB1
(R2C)
Single nucleotide variant
(missense variant)
Abnormal bleeding
+1 more
GUncertain significance
TUBB1
(R2P)
Single nucleotide variant
(missense variant)
Macrothrombocytopenia, isolated, 1, autosomal dominant
GUncertain significance
TUBB1
(V5I)
Single nucleotide variant
(missense variant)
not provided
GBenign
TUBB1
(H6R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBB1
(I7V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBB1
(G10R)
Single nucleotide variant
(missense variant)
Thrombocytopenia
GUncertain significance
TUBB1
(Q11P)
Single nucleotide variant
(missense variant)
Macrothrombocytopenia, isolated, 1, autosomal dominant
GUncertain significance
TUBB1
(C12S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBB1
(C12fs)
Deletion
(frameshift variant)
TUBB1-related condition
+2 more
GConflicting classifications of pathogenicity
TUBB1
(G13S)
Single nucleotide variant
(missense variant)
Macrothrombocytopenia, isolated, 1, autosomal dominant
GUncertain significance
TUBB1
(N14K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBB1
(G17R)
Single nucleotide variant
(missense variant)
TUBB1-related condition
GUncertain significance
TUBB1
Single nucleotide variant
(splice donor variant)
Macrothrombocytopenia, isolated, 1, autosomal dominant
GLikely pathogenic
TUBB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TUBB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TUBB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TUBB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TUBB1
Single nucleotide variant
(intron variant)
not provided
GBenign
TUBB1
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
TUBB1
(M23T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBB1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
TUBB1
(G29E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TUBB1
(D36H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TUBB1
(D36N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBB1
(R37H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBB1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
TUBB1
(G38R)
Single nucleotide variant
(missense variant)
not provided
GBenign
TUBB1
(S40L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBB1
(Q43P)
Indel
(missense variant)
not provided
GBenign
TUBB1
(Q43P)
Single nucleotide variant
(missense variant)
not provided
GBenign
TUBB1
(Y51H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBB1
(Y51F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBB1
(N52I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TUBB1
(Y55*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
TUBB1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
TUBB1
(G56S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBB1
Single nucleotide variant
(splice donor variant)
Macrothrombocytopenia, isolated, 1, autosomal dominant
GLikely pathogenic
TUBB1
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
TUBB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TUBB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TUBB1
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
TUBB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TUBB1
Insertion
(intron variant)
not provided
GBenign
TUBB1
Single nucleotide variant
(intron variant)
Macrothrombocytopenia, isolated, 1, autosomal dominant
GUncertain significance
TUBB1
(R57K)
Single nucleotide variant
(missense variant)
Macrothrombocytopenia, isolated, 1, autosomal dominant
GUncertain significance
TUBB1
(R62*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
TUBB1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TUBB1
(R62Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBB1
(M73I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBB1
(R77*)
Single nucleotide variant
(nonsense)
Macrothrombocytopenia
+2 more
GConflicting classifications of pathogenicity
TUBB1
(R77P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBB1
(R77Q)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
TUBB1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TUBB1
(D88N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TUBB1
Deletion
(intron variant)
not provided
GBenign
TUBB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TUBB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TUBB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TUBB1
(A97fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
TUBB1
(A97T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBB1
(N99K)
Single nucleotide variant
(missense variant)
Macrothrombocytopenia
GLikely pathogenic
TUBB1
(A102V)
Single nucleotide variant
(missense variant)
Thrombocytopenia
GUncertain significance
TUBB1
(Y106*)
Single nucleotide variant
(nonsense)
Congenital hypothyroidism
GPathogenic
TUBB1
(T107P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TUBB1
(T107M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TUBB1
(E111fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
TUBB1
(G109E)
Single nucleotide variant
(missense variant)
TUBB1-related condition
+4 more
GConflicting classifications of pathogenicity
TUBB1
(E114K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
TUBB1
(V119L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBB1
(H122Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBB1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TUBB1
(S124R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBB1
(C129Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBB1
(L130V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TUBB1
(G132R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBB1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
TUBB1
(Q134*)
Single nucleotide variant
(nonsense)
not specified
+1 more
GConflicting classifications of pathogenicity
TUBB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TUBB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TUBB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TUBB1
(G141R)
Single nucleotide variant
(missense variant)
Macrothrombocytopenia, isolated, 1, autosomal dominant
GUncertain significance
TUBB1
(G141R)
Single nucleotide variant
(missense variant)
Macrothrombocytopenia
GUncertain significance
TUBB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TUBB1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
TUBB1
(G146R)
Single nucleotide variant
(missense variant)
Macrothrombocytopenia, isolated, 1, autosomal dominant
+3 more
GConflicting classifications of pathogenicity
TUBB1
(G146A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBB1
(M147T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBB1
(E158A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBB1
(P160L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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