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Links from Gene

Items: 1 to 100 of 185

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CADPS2, RNF148
(I23V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADPS2, RNF148
(K35E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADPS2, RNF148
(H281L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADPS2, RNF133
(I249V)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CADPS2, RNF133
(C259W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADPS2
(M1140T +13 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADPS2
(D216Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADPS2
(M1L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADPS2
(P897R +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADPS2
(H1191R +13 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADPS2
(S26G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADPS2
(R119W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADPS2
(L71V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADPS2
(V435F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADPS2, LOC129999214
(D21Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADPS2, RNF148
(I302T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADPS2, RNF148
(P296A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADPS2, RNF148
(C258S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADPS2, RNF148
(N257S)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CADPS2, RNF148
(Q240H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADPS2, RNF148
(G146V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADPS2, RNF148
(V14I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADPS2, RNF148
(I128V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADPS2, RNF148
(H11D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADPS2, RNF148
(F62L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADPS2, RNF148
(T45A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADPS2, RNF133
(L24P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADPS2, RNF133
(Q231E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADPS2, RNF133
(Y190C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADPS2, RNF133
(L18R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADPS2, RNF133
(P141S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADPS2, RNF133
(G344R)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CADPS2
(S165W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADPS2
(T1134S +13 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADPS2
(I1113L +13 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADPS2
(D885Y +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADPS2
(I633T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADPS2
(Q79R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADPS2
(E585G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADPS2
(F472L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADPS2
(T519A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADPS2
(A318E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADPS2
(R301Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CADPS2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AASS, AGBL3
+100 more
Copy number loss
not specified
GPathogenic
CADPS2
Copy number loss
not specified
GUncertain significance
CADPS2
(V638L +2 more)
Single nucleotide variant
(missense variant)
CADPS2-related disorder
GLikely benign
CADPS2
(K131R +1 more)
Single nucleotide variant
(missense variant)
CADPS2-related disorder
GLikely benign
CADPS2, RNF148
(D286E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADPS2
(T658A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADPS2, LOC129999214
(R31Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADPS2, RNF133
(D229N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADPS2, RNF148
(S166L)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CADPS2
(Y432C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADPS2
(D1024E +10 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADPS2
(C143S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADPS2, RNF148
(S13F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADPS2, RNF133
(R221Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADPS2, RNF133
(R107W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADPS2
(V1134I +13 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADPS2, RNF133
(T120A)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CADPS2, RNF133
(L325V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADPS2
(R681G +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADPS2
(H1065Y +13 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADPS2, RNF148
(R272C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADPS2
(V778I +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADPS2, RNF133
(I268V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADPS2
(V163I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF148, CADPS2
(L274V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADPS2
(G554C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADPS2
(K251Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADPS2
(M522I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADPS2, RNF133
(S45L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADPS2
(D1054H +10 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADPS2
(V705L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADPS2
(E954D +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADPS2
(E817K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADPS2, RNF133
(N89S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADPS2
(E1002Q +10 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADPS2
(T992N +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADPS2, RNF148
(A103S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADPS2
(K771R +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADPS2
(R621H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADPS2
(N637T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADPS2
(G248D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADPS2
(S1001L +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADPS2, RNF148
(A152T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADPS2, RNF148
(P215L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADPS2
(R1144Q +13 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADPS2
(D1112N +13 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADPS2, RNF148
(Y265H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADPS2
(D716G +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADPS2, RNF133
(F112I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADPS2
(D547N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADPS2
(A105T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADPS2, RNF148
(L21F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADPS2
(F559I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADPS2, RNF148
(D269G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADPS2
(W507C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADPS2
(V200L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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