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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
A1BG, A1BG-AS1
+547 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
+179 more
Copy number gain
See cases
GUncertain significance
A1BG, A1BG-AS1
+215 more
Copy number gain
See cases
GPathogenic
LOC125384550, LOC126862946
+37 more
Copy number gain
See cases
GUncertain significance
LOC125384550, LOC126862947
+20 more
Copy number gain
See cases
GUncertain significance
LOC125384550, LOC126862947
+23 more
Copy number gain
See cases
GLikely benign
ZNF587B
(A2V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF587B
(Q12R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF587B
(F17S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF587B
(K23N)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZNF587B
(N30S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF587B
(S33N)
Single nucleotide variant
(missense variant)
not provided
GBenign
ZNF587B
(Y40C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF587B
(R41H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF587B
(D62Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF587B
(T81S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF587B
(P99L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF587B
(H114Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF587B
(I143V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF587B
(S151N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF587B
(R182G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF587B
(L185F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ZNF587B
(H216Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF587B
(H216R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF587B
(D218E)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZNF587B
(L235H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF587B
(R238G)
Single nucleotide variant
(missense variant)
not provided
GBenign
ZNF587B
(R238Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF587B
(E246Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF587B
(C247S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF587B
(S250Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF587B
(V263I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF587B
(P269L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF587B
(E271K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF587B
(Q281P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF587B
(H292Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF587B
(Y326F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF587B
(G332E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF587B
(Q345H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF154, ZNF417
+10 more
Copy number gain
not provided
GUncertain significance
ZIK1, ZNF134
+16 more
Copy number gain
not provided
GUncertain significance
ZNF552, ZNF587
+2 more
Copy number loss
not provided
GUncertain significance
C19orf18, ZIK1
+21 more
Copy number gain
not provided
GUncertain significance
ZIK1, ZNF134
+14 more
Copy number gain
not provided
GUncertain significance
C19orf18, VN1R1
+29 more
Copy number gain
not provided
GUncertain significance
ZNF548, ZNF549
+157 more
Copy number gain
not provided
GPathogenic
ZNF814, ZSCAN4
+27 more
Copy number gain
not provided
GLikely benign
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
A1BG, AURKC
+64 more
Copy number gain
See cases
GUncertain significance
A1BG, ACP4
+280 more
Copy number gain
See cases
GPathogenic
ZNF587, ZNF587B
Copy number gain
See cases
GBenign
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