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Items: 1 to 100 of 135

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129996876, LOC129996877
+1449 more
Copy number gain
See cases
GPathogenic
AKIRIN2, ANKRD6
+299 more
Copy number loss
See cases
GPathogenic
AKIRIN2, ANKRD6
+220 more
Copy number loss
See cases
GPathogenic
SMIM8, SNHG5
+247 more
Copy number loss
See cases
GPathogenic
AKIRIN2, ANKRD6
+157 more
Copy number loss
See cases
GPathogenic
LOC129389576, LOC129389577
+153 more
Copy number loss
See cases
GPathogenic
ANKRD6, BACH2
+60 more
Copy number gain
See cases
GUncertain significance
CASP8AP2
(N7S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(A19G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(G28A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(Y73H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(D173N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(R229L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(S253N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(R257T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(G271D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(Y291C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(T326N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(H332Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(I446V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(V451A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(A453V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(P493L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(K512R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(K552T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(P573T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(P573R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(I585V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CASP8AP2
(E595Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(S597L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CASP8AP2
(M598V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CASP8AP2
(V603A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(A618V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(V636F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(V636I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(I648V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(E656K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(M668V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CASP8AP2
(R707K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(V716I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CASP8AP2
(D735N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(S743C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(P766R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(N782D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(V790I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(I791V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CASP8AP2
(V792D)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CASP8AP2
(L803V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(T811I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(P877S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CASP8AP2
(P892L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(N893D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(T898A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(D917V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(E952G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(R957S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(R958T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(R964W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(R972C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(T986S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(H987R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(K999E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(S1018N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(T1019N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(H1086R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(I1103V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(E1104G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(R1118H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(K1147R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(K1148E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(S1183R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(E1200D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(Y1205H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(V1209L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CASP8AP2
(K1213R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(E1216G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(I1233M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(I1239V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(I1244V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(H1257R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(T1282P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(K1284R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(D1307E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(S1334N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(K1339T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(E1360Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(P1388L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(P1416T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(V1425I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(H1476Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(D1480V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(S1507G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(V1517A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(A1518D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(N1526H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(C1587F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(H1612Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(V1623F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(V1623L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CASP8AP2
(I1662T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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