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Items: 1 to 100 of 196

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAM28, ADAM7
+979 more
Copy number gain
See cases
GPathogenic
LOC126860438, LOC126860439
+3663 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3663 more
Copy number gain
See cases
GPathogenic
LOC130000099, LOC130000100
+1040 more
Copy number gain
See cases
GPathogenic
LOC130000032, LOC130000033
+1105 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC105379224, LOC105379230
+3657 more
Copy number gain
See cases
GPathogenic
LOC129999950, LOC129999951
+996 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
DPYSL2, DUSP26
+1020 more
Copy number gain
See cases
GPathogenic
LOC126860319, LOC126860320
+696 more
Copy number gain
See cases
GPathogenic
LOC130000106, LOC130000107
+937 more
Copy number gain
See cases
GPathogenic
LOC130000241, LOC130000242
+934 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+665 more
Copy number gain
See cases
GPathogenic
LOC129999967, LOC129999968
+870 more
Copy number gain
See cases
GPathogenic
KAT6A-AS1, KCNU1
+929 more
Copy number gain
See cases
GPathogenic
LOC130000074, LOC130000075
+929 more
Copy number gain
See cases
GPathogenic
TNFRSF10A, TNFRSF10A-DT
+705 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+870 more
Copy number gain
See cases
GPathogenic
LOC124153144, LOC124153145
+818 more
Copy number gain
See cases
GPathogenic
LOC113788268, LOC113788269
+929 more
Copy number gain
See cases
GPathogenic
LOC128772328, LOC129389957
+653 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+567 more
Copy number loss
Microcephaly
GPathogenic
ADAM28, ADAM7
+567 more
Copy number gain
See cases
GPathogenic
LOC130000303, LOC130000304
+922 more
Copy number gain
See cases
GPathogenic
LOC113788272, LOC113788273
+807 more
Copy number gain
See cases
GPathogenic
LOC130000012, LOC130000013
+857 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+922 more
Copy number gain
See cases
GPathogenic
LOC130000050, LOC130000051
+791 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+523 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+922 more
Copy number gain
See cases
GPathogenic
LOC130000309, LOC130000310
+900 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+532 more
Copy number loss
See cases
GPathogenic
LOC129999966, LOC129999967
+3111 more
Copy number gain
See cases
GPathogenic
ADRA1A, BNIP3L
+259 more
Copy number loss
See cases
GPathogenic
ADRA1A, BNIP3L
+259 more
Copy number loss
See cases
GPathogenic
LOC124153126, LOC124153127
+257 more
Copy number loss
See cases
GPathogenic
LOC130000135, LOC130000136
+593 more
Copy number gain
See cases
GPathogenic
KIF13B
(A1807D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(A1807T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(T1793I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(R1776P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(R1768L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(R1766W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(F1752C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(I1746T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(A1723S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
Single nucleotide variant
(synonymous variant)
EBV-positive nodal T- and NK-cell lymphoma
GLikely benign
KIF13B
(Y1719C)
Single nucleotide variant
(missense variant)
not provided
GBenign
KIF13B
(V1716L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(V1709M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(T1708S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(E1692K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(P1678A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(D1666Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(R1661S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(R1657P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(R1657G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(L1637F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(R1634C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(R1632W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(G1631A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(V1616I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(P1611S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(A1601T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
KIF13B
(A1598V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(A1598S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(P1557A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(P1551L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(I1528V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(P1498Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(S1497G)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
KIF13B
(V1488A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
Single nucleotide variant
(synonymous variant)
not provided
GBenign
KIF13B
(P1480R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(K1455R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(A1447E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(G1422V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(S1376R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(K1374R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(L1369F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(R1345G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(Y1339C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(N1327S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(M1324I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(D1311H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(N1307S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(G1280S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(G1277S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(N1274S)
Single nucleotide variant
(missense variant)
not provided
GBenign
KIF13B
(Q1256H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(R1252H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(V1243M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(R1239G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(H1217D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(F1209S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(P1154A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(A1128V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(K1119I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF13B
(R1117C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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