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Items: 1 to 100 of 231

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC112533659, LOC112533660
+2032 more
Copy number gain
See cases
GPathogenic
MIR636, MIR6516
+1033 more
Copy number gain
See cases
GPathogenic
AANAT, AATK
+1013 more
Copy number gain
See cases
GPathogenic
SDK2
(I2165T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(R2152H)
Single nucleotide variant
(missense variant)
SDK2-related condition
GLikely benign
SDK2
(R2152C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(P2137T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(R2128Q)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
SDK2
(L2126V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SDK2
(S2101R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(R2096T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
Single nucleotide variant
(intron variant)
SDK2-related condition
GLikely benign
SDK2
Single nucleotide variant
(synonymous variant)
SDK2-related condition
GLikely benign
SDK2
(D2035N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(D2027E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(T2012N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(V2000I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SDK2
(E1979K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(S1978R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
Single nucleotide variant
(synonymous variant)
SDK2-related condition
GBenign
SDK2
(D1965V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(Q1956H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(A1923T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(V1918M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
Single nucleotide variant
(synonymous variant)
SDK2-related condition
GLikely benign
SDK2
(K1874I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(R1835Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(R1835W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(G1821E)
Single nucleotide variant
(missense variant)
SDK2-related condition
GBenign
SDK2
(G1821R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(P1820A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(Y1808H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(R1800H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(A1792V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(V1778M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(V1776M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(G1756S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SDK2
(N1704S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(A1702T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(T1694M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(S1684R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(R1674Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(P1646L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
Single nucleotide variant
(synonymous variant)
SDK2-related condition
GLikely benign
SDK2
Single nucleotide variant
(synonymous variant)
SDK2-related condition
GLikely benign
SDK2
(A1635T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(V1618I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
Single nucleotide variant
(synonymous variant)
SDK2-related condition
GBenign
SDK2
(V1601M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(R1598Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
Single nucleotide variant
(synonymous variant)
SDK2-related condition
GLikely benign
SDK2
(R1593G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
Single nucleotide variant
(intron variant)
SDK2-related condition
GLikely benign
SDK2
(R1578Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(R1574L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(R1574W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
Single nucleotide variant
(intron variant)
SDK2-related condition
GLikely benign
SDK2
(R1542W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(Y1541H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(R1538W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(P1524L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(I1520V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(V1518M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
Single nucleotide variant
(synonymous variant)
SDK2-related condition
GBenign
SDK2
(V1510M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
Single nucleotide variant
(synonymous variant)
SDK2-related condition
GBenign
SDK2
(N1480S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
Single nucleotide variant
(synonymous variant)
SDK2-related condition
GLikely benign
SDK2
(R1465S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(D1464N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(I1462V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SDK2
Single nucleotide variant
(synonymous variant)
SDK2-related condition
GBenign
SDK2
(V1454M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(S1430C)
Single nucleotide variant
(missense variant)
SDK2-related condition
GBenign
SDK2
Single nucleotide variant
(synonymous variant)
SDK2-related condition
GBenign
SDK2
(V1418M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(S1417R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(R1416C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SDK2
Single nucleotide variant
(synonymous variant)
SDK2-related condition
GBenign
SDK2
(A1389P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(R1380C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(A1377G)
Single nucleotide variant
(missense variant)
SDK2-related condition
GUncertain significance
SDK2
Single nucleotide variant
(synonymous variant)
SDK2-related condition
GBenign
SDK2
(T1315M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(M1305R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
Single nucleotide variant
(intron variant)
SDK2-related condition
GLikely benign
SDK2
Single nucleotide variant
(intron variant)
SDK2-related condition
GLikely benign
SDK2
(T1296M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(S1288N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(G1267S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(G1265S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
Single nucleotide variant
(synonymous variant)
SDK2-related condition
GLikely benign
SDK2
(R1228H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(R1219H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(V1218M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SDK2
(S1213C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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