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Items: 60

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130064925, LOC130064926
+1081 more
Copy number gain
See cases
GPathogenic
LOC130064903, LOC130064904
+1093 more
Copy number gain
See cases
GPathogenic
LOC130065082, LOC130065083
+806 more
Copy number gain
See cases
GPathogenic
OSCAR, PEG3
+782 more
Copy number gain
See cases
GPathogenic
LOC130065034, LOC130065035
+761 more
Copy number gain
See cases
GPathogenic
A1BG, A1BG-AS1
+647 more
Copy number gain
See cases
GPathogenic
SSC5D, SYT5
+553 more
Copy number gain
See cases
GPathogenic
TMC4, TMEM150B
+537 more
Copy number gain
See cases
GPathogenic
A1BG, A1BG-AS1
+215 more
Copy number gain
See cases
GPathogenic
LOC130065239, LOC130065240
+41 more
Copy number loss
See cases
GLikely benign
LOC130065232, ZBTB45
(K466N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130065232, ZBTB45
(G455S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB45
(W437R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB45
(M422V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB45
(R409C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB45
(P396S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB45
(P388L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB45
(Q373L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB45
(P362S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB45
(P356S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB45
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ZBTB45
(A355V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB45
(P345L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB45
(P344S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB45
(A343T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB45
(G316R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB45
(I313M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB45
(D311N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB45
(E300K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB45
(A297T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZBTB45
(D293N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB45
(G277E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB45
(R274Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB45
(P257T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB45
(E255K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB45
(G243D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB45
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZBTB45
(E209K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB45
(A202S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB45
(R178C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB45
(R171H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB45
(G166S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB45
(R160G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB45
(R152C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB45
(A147V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB45
Single nucleotide variant
(synonymous variant)
ZBTB45-related condition
GLikely benign
ZBTB45
(A132V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB45
(R124C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB45
(T119M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB45
(L100V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB45
(S91L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB45
(R70C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB45
(A52V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB45
(R17H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB45
(R17C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB45
(E5D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB45
(A2V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZBTB45
(A2T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC27A5, ZBTB45
+2 more
Copy number gain
See cases
GUncertain significance
A1BG, ACP4
+280 more
Copy number gain
See cases
GPathogenic
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