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Items: 16

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, BUB1B-PAK6
(L918V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
BUB1B, BUB1B-PAK6
(Q921H)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
BUB1B, BUB1B-PAK6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
BUB1B, BUB1B-PAK6
Single nucleotide variant
(intron variant)
not provided
GBenign
BUB1B, BUB1B-PAK6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
BUB1B, BUB1B-PAK6
Single nucleotide variant
(intron variant)
not provided
GBenign
BUB1B, BUB1B-PAK6
Single nucleotide variant
(intron variant)
not provided
GBenign
BUB1B, BUB1B-PAK6
Single nucleotide variant
(synonymous variant +1 more)
Mosaic variegated aneuploidy syndrome 1
+3 more
GBenign
BUB1B, BUB1B-PAK6
+1 more
(A957fs)
Deletion
(frameshift variant +1 more)
Mosaic variegated aneuploidy syndrome 1
+1 more
GLikely pathogenic
BUB1B, BUB1B-PAK6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
BUB1B, BUB1B-PAK6
(N1004S)
Single nucleotide variant
(missense variant +1 more)
Mosaic variegated aneuploidy syndrome 1
+3 more
GBenign/Likely benign
BUB1B, BUB1B-PAK6
(N1032H)
Single nucleotide variant
(missense variant +1 more)
Mosaic variegated aneuploidy syndrome 1
+1 more
GConflicting classifications of pathogenicity
BUB1B, BUB1B-PAK6
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GBenign
BUB1B, BUB1B-PAK6
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
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