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Items: 93

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAN2A2
(I71S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(N81K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(F118C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(R123W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(R123Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(G124V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(M131V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(L132P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(F152L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(D153N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(D160N)
Single nucleotide variant
(missense variant +1 more)
Aganglionic megacolon
GUncertain significance
MAN2A2
(R208Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(R210H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(N227S)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
MAN2A2
(A232G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(N240K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(A246V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(N277H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(R283S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(R283H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(M309I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(H326Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(S338L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(R374H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(R379H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(R389Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MAN2A2
(Q412R)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
MAN2A2
(R415Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MAN2A2
(A437T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(Q460K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(R540C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(R541C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(G546A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(R560W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(K577R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(R590H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
MAN2A2
(P618S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(T639M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(N669S)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
MAN2A2
(R672H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(R674S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(S677L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(T695A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(E696K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(R709C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
MAN2A2
(R728C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(T729M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(R741W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(R754H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(D762N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(R768H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(M770I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(R786S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(T804A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(R805C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(K828R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(V832M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(A846T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(A846V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
MAN2A2
(A854V)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
MAN2A2
(K882Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(T890K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(D893N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(F899V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(Y912H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(L918V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(S950G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(K952R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(G973D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(K977R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(T982I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(R987C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(R987H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(R992W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(T994S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(A1023G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(Q1057L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(T1084M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(S1069L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(A1070V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
MAN2A2
(A1073T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(R1078L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(R1103H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(A1112D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(G1134S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(V1135I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
MAN2A2
(R1146C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(R1148C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MAN2A2
(G1150S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
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