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Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PSMD12
(V380F +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PSMD12
(M377I +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PSMD12
(M377L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PSMD12
(L334F +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PSMD12
(A332G +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PSMD12
(A332V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PSMD12
(T312A +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PSMD12
(V281A +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PSMD12
(S276R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PSMD12
(L255S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PSMD12
(D226H +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PSMD12
(K209T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PSMD12
(I191R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PSMD12
(C185S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PSMD12
(D139V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PSMD12
(R182* +2 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
PSMD12
(S156fs +2 more)
Deletion
(frameshift variant)
not provided
GPathogenic
PSMD12
(G137R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PSMD12
(R124* +2 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic/Likely pathogenic
PSMD12
(I116V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PSMD12
(R123* +2 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
PSMD12
(P99fs +2 more)
Deletion
(frameshift variant)
not provided
GPathogenic
PSMD12
(Q106* +2 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
PSMD12
(L31F +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PSMD12
(I28V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PSMD12
(M1I +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PSMD12
(D39G +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
PSMD12
(R55C)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
PSMD12
(G38R)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
LOC130061479, PSMD12
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GBenign
LOC130061480, PSMD12
(E7G)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
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