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Items: 1 to 100 of 126

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
INPP1, ITGA4
+1097 more
Copy number gain
See cases
GPathogenic
LOC129935343, LOC129935344
+1703 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1687 more
Copy number gain
See cases
GPathogenic
LOC129935726, LOC129935727
+1665 more
Copy number gain
See cases
GPathogenic
LOC129935713, LOC129935714
+1299 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1148 more
Copy number gain
See cases
GPathogenic
LOC110120629, LOC110120691
+986 more
Copy number gain
See cases
GPathogenic
ABCB6, ANKZF1
+77 more
Copy number gain
See cases
GUncertain significance
ABCB6, ACSL3
+195 more
Copy number loss
See cases
GPathogenic
STK11IP
(A4T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(D7N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(L9V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(A14P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(A14G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(E19D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(I72V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(L86P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(H92Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(G95C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(I102V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(S109T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(R111W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(L148F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(G154S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(N169S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(N173S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(R189C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(R189H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(C201R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126806519, STK11IP
(L214M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126806519, STK11IP
(R220C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126806519, STK11IP
(R220H)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
LOC126806519, STK11IP
(L223S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126806519, STK11IP
(A232S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126806519, STK11IP
(R240Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126806519, STK11IP
(E251K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126806519, STK11IP
(R257Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126806519, STK11IP
(R270W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126806519, STK11IP
(R282H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126806519, STK11IP
(R282L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126806519, STK11IP
(P290A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(G315C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(V322F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(P351L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(P357L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(L359V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(S360R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(R382H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(E390K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(P414L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(R423W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(R425Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(P439S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(G441R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(S460P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(S460A)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
STK11IP
(G462S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
STK11IP
(P494S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(K507E)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
STK11IP
(E518D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(K531E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(P545S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(E547G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(F558L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(F558C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(A564P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(A564V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(A573V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(R575H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(I590L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
STK11IP
(T603M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(A611T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(R617C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(R628C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(R629C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(H638D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(V647M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(T649I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(N653S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(R674C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(C710Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(A719T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
STK11IP
(V720L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
STK11IP
(P749L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(P766L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
STK11IP
(H771R)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
STK11IP
(S777G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(R782C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(R786H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(R793W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(C827G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(P848T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(I867T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(A872V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(E925V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(R951W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(D976E)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
STK11IP
(V999M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STK11IP
(S1002L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
STK11IP
(R1009C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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