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Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130056392, LOC130056393
+1073 more
Copy number gain
See cases
GPathogenic
IGHD5-18, IGHD5-24
+881 more
Copy number gain
See cases
GPathogenic
LOC105378183, LOC112163684
+164 more
Copy number loss
See cases
GPathogenic
ADSS1, AKT1
+177 more
Copy number loss
See cases
GPathogenic
ADSS1, AHNAK2
+256 more
Copy number loss
See cases
GPathogenic
KIF26A
(E150G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF26A
(R277H)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
KIF26A
(S456L)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
KIF26A
(A929T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF26A
(A1202T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF26A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
KIF26A
(A1360V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KIF26A
(R1422W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF26A
(K1450E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KIF26A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
KIF26A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
KIF26A
(S1614I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF26A
(R1723H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KIF26A
(R1792W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KIF26A
(L1814R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF26A
(R1550Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF26A
(G39E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KIF26A
(R1761Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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