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Items: 68

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IL17RA, LINC01640
+2088 more
Copy number gain
See cases
GPathogenic
LOC130067403, LOC130067404
+2088 more
Copy number gain
See cases
GPathogenic
ANKRD54, APOL1
+293 more
Copy number loss
See cases
GPathogenic
LOC130067651, LOC130067652
+1004 more
Copy number gain
See cases
GPathogenic
ANKRD54, APOBEC3A
+177 more
Copy number loss
See cases
GPathogenic
ANKRD54, BAIAP2L2
+122 more
Copy number loss
See cases
GPathogenic
LOC130067459, LOC130067460
+273 more
Copy number gain
See cases
GPathogenic
CBX6, DNAL4
+20 more
Copy number loss
See cases
GUncertain significance
NPTXR
(D492N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPTXR
(A486T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPTXR
(E481V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPTXR
(V480M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPTXR
(L473V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPTXR
(N471D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPTXR
(A466V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPTXR
(T436A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPTXR
(A435S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPTXR
(T428N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPTXR
(G399R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPTXR
(H380R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPTXR
(A354V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPTXR
(G335S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPTXR
(G333S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPTXR
(R326Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPTXR
(V309L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPTXR
(R301C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPTXR
(P299R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPTXR
(S289G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPTXR
(R277H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPTXR
(R262Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NPTXR
(L256F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPTXR
(R203H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPTXR
(A199T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPTXR
(D195E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPTXR
(A188G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPTXR
(S186P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPTXR
(D185G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPTXR
(M179R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPTXR
(R175P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPTXR
(A172P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPTXR
(G171D)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NPTXR
(Q132R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPTXR
(T129A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPTXR
(S128N)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NPTXR
(S128R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPTXR
(R57W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPTXR
(P55T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPTXR
(G48A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPTXR
(A46T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPTXR
(V45A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPTXR
(G38S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NPTXR
(R34W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A4GALT, ACO2
+106 more
Copy number gain
not specified
GPathogenic
CBX6, CBY1
+7 more
Copy number loss
not provided
GUncertain significance
ANKRD54, BAIAP2L2
+29 more
Deletion
not provided
GPathogenic
ACO2, ADSL
+132 more
Duplication
Adenylosuccinate lyase deficiency
GUncertain significance
A4GALT, ACO2
+438 more
Copy number gain
See cases
GPathogenic
NPTXR, FAM227A
+20 more
Copy number loss
See cases
GLikely pathogenic
CERK, CHADL
+271 more
Copy number gain
not provided
GPathogenic
TUBA8, TUBGCP6
+435 more
Copy number gain
not provided
GPathogenic
CBY1, DDX17
+10 more
Copy number loss
See cases
GUncertain significance
ANKRD54, APOBEC3A
+76 more
Copy number gain
See cases
GLikely pathogenic
ANKRD54, AP1B1
+435 more
Copy number gain
See cases
GPathogenic
NEFH, NF2
+435 more
Copy number gain
See cases
GPathogenic
ZNF280A, ZNF280B
+438 more
Copy number gain
See cases
GPathogenic
SMARCB1, SMC1B
+438 more
Copy number gain
See cases
GPathogenic
A4GALT, ACO2
+223 more
Copy number gain
See cases
GPathogenic
A4GALT, ACO2
+438 more
Copy number gain
See cases
GPathogenic
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