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Links from Gene

Items: 42

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KLF2
(C337R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLF2
(G278D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLF2
(P200S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLF2
(G188C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLF2
(E150D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLF2
(G133R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYP4F8, DCAF15
+109 more
Copy number gain
not specified
GUncertain significance
ADGRE2, AKAP8
+55 more
Copy number gain
not provided
GUncertain significance
KLF2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KLF2
(M51T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLF2
(T13A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADGRE2, AKAP8
+57 more
Deletion
not provided
GUncertain significance
KLF2
(G131S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLF2
(A88G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLF2
(V121I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLF2
(G146S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLF2
(P106S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLF2
(P144S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLF2
(P76A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLF2
(V92M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLF2
(L56P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLF2
(E150K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLF2
(G22A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLF2
(D179N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLF2
(A218P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLF2
(D172A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLF2
(E318fs)
Duplication
(frameshift variant)
Inherited Immunodeficiency Diseases
GLikely pathogenic, low penetrance
KLF2
Single nucleotide variant
(intron variant)
not provided
GBenign
KLF2, KLF2-DT
Single nucleotide variant
not provided
GBenign
KLF2
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
KLF2
(L104P)
Single nucleotide variant
(missense variant)
not provided
GBenign
BST2, NWD1
+158 more
Copy number gain
not provided
GPathogenic
KLF2
(R142H)
Single nucleotide variant
(missense variant)
not provided
GBenign
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
ANO8, ABHD8
+35 more
Copy number loss
See cases
GLikely pathogenic
ADGRE2, AKAP8
+45 more
Copy number loss
See cases
GPathogenic
HSH2D, KLF2
+46 more
Copy number loss
not provided
GPathogenic
ABHD8, AKAP8
+574 more
Copy number gain
See cases
GPathogenic
ADGRE2, ADGRE3
+237 more
Copy number loss
See cases
GPathogenic
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
ABHD8, ADGRE2
+695 more
Copy number gain
See cases
GPathogenic
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