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Items: 35

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IL12RB1, LOC130063975
+1 more
(L12P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MAST3
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MAST3
(R36G +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126862876, MAST3
Indel
(missense variant)
not provided
GUncertain significance
LOC126862876, MAST3
(S103L +11 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
LOC126862876, MAST3
(H122R +11 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAST3
(T187M +11 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
MAST3
(E238Q +11 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAST3
(K387R +11 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAST3
(N390D +11 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAST3
(R397G +11 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAST3
(Q399K +11 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAST3
(V466fs +11 more)
Duplication
(frameshift variant)
not provided
GUncertain significance
MAST3
(D481H +11 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAST3
(G493C +11 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAST3
(G510S +11 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MAST3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MAST3
(E541K +11 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAST3
Single nucleotide variant
(intron variant)
not provided
GBenign
MAST3
(T606I +11 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAST3
(S657R +11 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAST3
(F688Y +11 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAST3
(S700G +11 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAST3
(R842* +11 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
MAST3
(G852S +11 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
MAST3
(R923P +11 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAST3
(Q1000R +11 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAST3
(H1089Y +16 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MAST3
(P1189L +16 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAST3
(P1195fs +16 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
MAST3
(S1253fs +16 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
MAST3
(L25S +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAST3
(P1149S +16 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAST3
(R662C +11 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAST3
(M163T +11 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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