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Items: 1 to 100 of 1608

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTC1, AQR
+219 more
Copy number loss
See cases
GPathogenic
ANKRD63, BMF
+47 more
Copy number gain
See cases
GUncertain significance
BUB1B
Single nucleotide variant
not provided
GBenign
BUB1B
Single nucleotide variant
not provided
GBenign
BUB1B
Single nucleotide variant
not provided
GBenign
BUB1B
Single nucleotide variant
not provided
GBenign
BUB1B
Single nucleotide variant
not provided
GBenign
BUB1B
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
BUB1B
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
BUB1B, BUB1B-PAK6
+3 more
Duplication
Mosaic variegated aneuploidy syndrome
GUncertain significance
LOC130056830, BUB1B
(M1fs)
Duplication
(frameshift variant +1 more)
Mosaic variegated aneuploidy syndrome 1
GUncertain significance
BUB1B, LOC130056830
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
BUB1B, LOC130056830
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
BUB1B, LOC130056830
(A3T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC130056830, BUB1B
(A3V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1B, LOC130056830
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
BUB1B, LOC130056830
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
BUB1B, LOC130056830
(V4M)
Single nucleotide variant
(missense variant)
BUB1B-related condition
+3 more
GLikely benign
BUB1B, LOC130056830
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GLikely benign
LOC130056830, BUB1B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
BUB1B, LOC130056830
(E7K)
Single nucleotide variant
(missense variant)
Mosaic variegated aneuploidy syndrome 1
GUncertain significance
BUB1B, LOC130056830
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
BUB1B, LOC130056830
(E7D)
Single nucleotide variant
(missense variant)
Mosaic variegated aneuploidy syndrome 1
+1 more
GUncertain significance
BUB1B, LOC130056830
(G8W)
Single nucleotide variant
(missense variant)
Mosaic variegated aneuploidy syndrome 1
GUncertain significance
BUB1B, LOC130056830
(G8V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1B, LOC130056830
(G8A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
BUB1B, LOC130056830
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
BUB1B, LOC130056830
(G9D)
Single nucleotide variant
(missense variant)
Mosaic variegated aneuploidy syndrome 1
GUncertain significance
BUB1B, LOC130056830
(G9V)
Single nucleotide variant
(missense variant)
Mosaic variegated aneuploidy syndrome 1
GUncertain significance
LOC130056830, BUB1B
(G9A)
Single nucleotide variant
(missense variant)
Mosaic variegated aneuploidy syndrome 1
+1 more
GUncertain significance
BUB1B, LOC130056830
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
LOC130056830, BUB1B
(A10V)
Single nucleotide variant
(missense variant)
Mosaic variegated aneuploidy syndrome 1
GUncertain significance
BUB1B, LOC130056830
(L11R)
Single nucleotide variant
(missense variant)
Mosaic variegated aneuploidy syndrome 1
GUncertain significance
LOC130056830, BUB1B
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+1 more
GUncertain significance
BUB1B, LOC130056830
Single nucleotide variant
(intron variant)
Mosaic variegated aneuploidy syndrome 1
GUncertain significance
BUB1B, LOC130056830
Single nucleotide variant
(intron variant)
Mosaic variegated aneuploidy syndrome 1
GLikely benign
BUB1B, LOC130056830
Single nucleotide variant
(intron variant)
not provided
GBenign
BUB1B
Single nucleotide variant
(intron variant)
not provided
GBenign
BUB1B
Single nucleotide variant
(intron variant)
not provided
GBenign
BUB1B
Duplication
(intron variant)
not specified
+2 more
GBenign
BUB1B
Insertion
(intron variant)
Mosaic variegated aneuploidy syndrome 1
GLikely benign
BUB1B
Single nucleotide variant
(intron variant)
Mosaic variegated aneuploidy syndrome 1
GLikely benign
BUB1B
Single nucleotide variant
(splice acceptor variant)
Mosaic variegated aneuploidy syndrome 1
GLikely pathogenic
BUB1B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
BUB1B
(M15T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
BUB1B
(M15I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
BUB1B
(S16C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1B
(S16F)
Single nucleotide variant
(missense variant)
Mosaic variegated aneuploidy syndrome 1
GUncertain significance
BUB1B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
BUB1B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
BUB1B
(E18D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
BUB1B
Single nucleotide variant
(synonymous variant)
Mosaic variegated aneuploidy syndrome 1
GLikely benign
BUB1B
(E21K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1B
(E23V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1B
(E23D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1B
(S25N)
Single nucleotide variant
(missense variant)
Mosaic variegated aneuploidy syndrome 1
GUncertain significance
BUB1B
(L32fs)
Insertion
(frameshift variant)
Mosaic variegated aneuploidy syndrome 1
GPathogenic
BUB1B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
BUB1B
(K26I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
BUB1B
(V29A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
BUB1B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
BUB1B
(P31S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1B
(P31R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
BUB1B
(L32F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1B
Single nucleotide variant
(synonymous variant)
Mosaic variegated aneuploidy syndrome 1
GLikely benign
BUB1B
(Q34R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1B
(G35A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1B
(G35E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BUB1B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
BUB1B
(R36W)
Single nucleotide variant
(missense variant)
Mosaic variegated aneuploidy syndrome 1
+1 more
GUncertain significance
BUB1B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
BUB1B
(R36Q)
Single nucleotide variant
(missense variant)
Mosaic variegated aneuploidy syndrome 1
GUncertain significance
BUB1B
(M38T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1B
(M38I)
Single nucleotide variant
(missense variant)
Mosaic variegated aneuploidy syndrome 1
GUncertain significance
BUB1B
(T40A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1B
(T40M)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign/Likely benign
BUB1B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
BUB1B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
BUB1B
(Q42R)
Single nucleotide variant
(missense variant)
Mosaic variegated aneuploidy syndrome 1
GUncertain significance
BUB1B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
BUB1B
(G43E)
Single nucleotide variant
(missense variant)
Mosaic variegated aneuploidy syndrome 1
GUncertain significance
BUB1B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
BUB1B
(A44T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1B
(A44G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1B
Single nucleotide variant
(synonymous variant)
Mosaic variegated aneuploidy syndrome 1
GLikely benign
BUB1B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
BUB1B
(A46T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
BUB1B
(A46G)
Single nucleotide variant
(missense variant)
Mosaic variegated aneuploidy syndrome 1
GUncertain significance
BUB1B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
BUB1B
(Q47K)
Single nucleotide variant
(missense variant)
Mosaic variegated aneuploidy syndrome 1
GUncertain significance
BUB1B
(Q47L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1B
(Q47P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
BUB1B
(S49F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1B
(A50S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BUB1B
(C51R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BUB1B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
BUB1B
Single nucleotide variant
(synonymous variant)
Mosaic variegated aneuploidy syndrome 1
+1 more
GLikely benign
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