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Items: 71

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AP2B1, C17orf50
+46 more
Copy number gain
See cases
GUncertain significance
SLFN5
(F11L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLFN5
(D32E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLFN5
(R34H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLFN5
(R36W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLFN5
(R45Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SLFN5
(A46V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLFN5
(K59R)
Single nucleotide variant
(missense variant)
not provided
GBenign
SLFN5
(R71C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLFN5
(P79S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLFN5
(Q90R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLFN5
(F95V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLFN5
(N103Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLFN5
(A106V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLFN5
(N148S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLFN5
(G160R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLFN5
(L175V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLFN5
(F176S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLFN5
(R180Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLFN5
(H194Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLFN5
(M199I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLFN5
(S201L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLFN5
(T202A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLFN5
(Y226H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLFN5
(T235I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLFN5
(E244Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLFN5
(T249M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLFN5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLFN5
(K261Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLFN5
(V277I)
Single nucleotide variant
(missense variant)
not provided
GBenign
SLFN5
(N279S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLFN5
(A304V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLFN5
(R326K)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SLFN5
Single nucleotide variant
(intron variant)
not provided
GBenign
SLFN5
(L347V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLFN5
(P356S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLFN5
(R357C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLFN5
(R357H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLFN5
(R376H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLFN5
(E395D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLFN5
(S398P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLFN5
(I451V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLFN5
(D460E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLFN5
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLFN5
(T485N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLFN5
(Q524R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLFN5
(Q560L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLFN5
(V576F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLFN5
(R632Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
SLFN5
(D674G)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
SLFN5
(D684Y)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
SLFN5
(Y703H)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
SLFN5
(R730Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
SLFN5
(W750G)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
SLFN5
(R782W)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
SLFN5
(L819F)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
SLFN5
(V856M)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
SLFN5
(G862R)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
SLFN5
(A864D)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
SLFN5
(L873P)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
AP2B1, FNDC8
+13 more
Deletion
Peroxisome biogenesis disorder 3A (Zellweger)
GPathogenic
SLC4A1, DCAKD
+422 more
Copy number loss
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
FNDC8, LIG3
+11 more
Copy number loss
not specified
GUncertain significance
AATF, ACACA
+66 more
Copy number loss
Chromosome 17q12 deletion syndrome
GPathogenic
AP2B1, GAS2L2
+10 more
Duplication
Peroxisome biogenesis disorder 3A (Zellweger)
GUncertain significance
CCT6B, FNDC8
+12 more
Copy number loss
not provided
GUncertain significance
AATF, ABHD15
+201 more
Copy number gain
not provided
GPathogenic
AP2B1, ASIC2
+40 more
Copy number loss
not provided
GUncertain significance
SLC35G3, SLFN11
+5 more
Copy number loss
See cases
GLikely benign
ALOX12, ALOX12B
+1143 more
Copy number gain
See cases
GPathogenic
SPEM2, TBCD
+1143 more
Copy number gain
See cases
GPathogenic
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