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Items: 1 to 100 of 1105

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129934515, LOC129934516
+241 more
Copy number gain
See cases
GPathogenic
ACOXL, ACOXL-AS1
+154 more
Copy number gain
See cases
GUncertain significance
ACOXL, ACOXL-AS1
+52 more
Copy number gain
See cases
GUncertain significance
ACOXL, ACOXL-AS1
+51 more
Copy number loss
See cases
GUncertain significance
ACOXL, BUB1
+7 more
Copy number loss
See cases
GUncertain significance
ACOXL, ACOXL-AS1
+50 more
Copy number loss
See cases
GUncertain significance
ACOXL, ACOXL-AS1
+50 more
Copy number gain
See cases
GUncertain significance
BUB1
(R1027Q +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
BUB1
(R1025S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
(R1025C +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
(R1062G +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
(K1024M +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
(C1023G +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
BUB1
(V1018I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
(I1074T +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
BUB1
(R1015K +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
BUB1
(R1013L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
(R1013P +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
(R1013H +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
(R1070C +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
BUB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
BUB1
(A1048V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
(A1068D +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
(A1068P +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
(A1068T +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
BUB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
BUB1
(I1046V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
BUB1
(N1007D +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
(T1006I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
(Y1005C +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
(H1041D +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
(Q1003K +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
BUB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
BUB1
(K1056E +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
BUB1
(K1053fs +2 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
BUB1
(L1029F +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
BUB1
(L1024R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
(L1024P +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
(H985R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
(C1041Y +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
(P1019A +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
(P1019T +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
(M978I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
(M978K +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
(M1035L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
(H1033D +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
(F1011Y +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
(M1007T +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
(M1027V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
(L1005F +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
(H1004L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
(H967R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
BUB1
(H1024fs +2 more)
Deletion
(frameshift variant)
Carcinoma of colon
GPathogenic
BUB1
(P1003R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
(R964S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ACOXL, ACOXL-AS1
+45 more
Copy number loss
See cases
GUncertain significance
ACOXL, ACOXL-AS1
+50 more
Copy number loss
See cases
GUncertain significance
BUB1
(R1000S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
(F999S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
(G997S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
(C1013Y +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
(C993R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
BUB1
(E955A +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
BUB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
BUB1
(G1011E +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
(G990E +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
(V986A +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
BUB1
(K985Q +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
BUB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
BUB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
BUB1
(L942P +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
(L999F +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
(M941T +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
(C977W +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
BUB1
(C977S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
(Y976C +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
BUB1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
BUB1
(T937A +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
(A993S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
(A936T +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
(G970A +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
BUB1
(F932L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
BUB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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