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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
ZNF211
(F39L)
Single nucleotide variant
(missense variant +3 more)
not specified
GLikely benign
ZNF211
(A80V +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZNF211
(G12D +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF211
(P149S +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF211
(V157L +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF211
(R111K +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF211
(K101R +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF211
(S102F +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF211
(H124Y +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF211
(L177F +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF211
(H119D +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF211
(S230I +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF211
(P175A +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF211
(I181V +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ZNF211
(M189V +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF211
(C283S +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF211
(S163N +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF211
(S174N +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF211
(R301S +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF211
(E193A +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF211
(T206M +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF211
(A253S +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF211
(P368S +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF211
(P255L +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF211
(R351H +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF211
(N372S +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF211
(S429Y +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF211
(H443R +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF211
(R383Q +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC129391146, ZNF211
(L576V +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC129391146, ZNF211
(R591H +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC129391146, ZNF211
(T523M +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC129391146, ZNF211
(R474K +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC129391146, ZNF211
(G547D +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZIK1, ZNF134
+16 more
Copy number gain
not provided
GUncertain significance
ZIK1, ZNF134
+9 more
Copy number gain
not provided
GLikely benign
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
VN1R1, ZIK1
+12 more
Duplication
not provided
GUncertain significance
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
ZIK1, ZNF134
+9 more
Copy number loss
See cases
GUncertain significance
A1BG, ACP4
+280 more
Copy number gain
See cases
GPathogenic
ZNF134, ZNF211
Copy number gain
See cases
GLikely benign
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