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Items: 32

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BORA, DIS3
(C526R +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
DIS3, BORA
(E457Q +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
DIS3, BORA
(P483L +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
BORA, DIS3
(Q504L +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
BORA, DIS3
(P559T +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
DIS3
(L956F +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DIS3
(V898A +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DIS3
(V900A +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DIS3
(G709E +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DIS3
(Y821C +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DIS3
(Q627R +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DIS3
(R746C +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DIS3
(R476Q +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DIS3
(S471P +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DIS3
(V340A +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DIS3
(R410G +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DIS3
(G374D +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DIS3
(I372V +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DIS3
(A228P +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DIS3
(R354L +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DIS3
(D347N +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DIS3
(P193L +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DIS3
(K160R +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DIS3
(W102R +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DIS3
(L217F +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DIS3
(G214A +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DIS3
(L67M)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DIS3
(P55A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DIS3
(P46Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DIS3
(G40V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DIS3
(K5R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DIS3
(L2R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
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