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Items: 43

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LMBRD1
(E526G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LMBRD1
(E449D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LMBRD1
(S446L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LMBRD1
(V438I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LMBRD1
(F428L +1 more)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria and homocystinuria type cblF
+1 more
GUncertain significance
LMBRD1
(A420D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LMBRD1
(Y408C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LMBRD1
(A395V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LMBRD1
(C466Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LMBRD1
(N375T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LMBRD1
Single nucleotide variant
(splice donor variant)
Methylmalonic aciduria and homocystinuria type cblF
+2 more
GConflicting classifications of pathogenicity
LMBRD1
(Y429C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
LMBRD1
(T405S +1 more)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria and homocystinuria type cblF
+1 more
GUncertain significance
LMBRD1
(I327T +1 more)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria and homocystinuria type cblF
+2 more
GUncertain significance
LMBRD1
(F377S +1 more)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria and homocystinuria type cblF
+2 more
GUncertain significance
LMBRD1
(N280fs +1 more)
Deletion
(frameshift variant)
Inborn genetic diseases
+3 more
GPathogenic
LMBRD1
(S249P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LMBRD1
(V247A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LMBRD1
(R302C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LMBRD1
(A300T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LMBRD1
(A268T +1 more)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria and homocystinuria type cblF
+1 more
GUncertain significance
LMBRD1
(R186Q +1 more)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria and homocystinuria type cblF
+1 more
GUncertain significance
LMBRD1
(Q246R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LMBRD1
(I168V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LMBRD1
(T165S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LMBRD1
(A230T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
LMBRD1
(M205T +1 more)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria and homocystinuria type cblF
+1 more
GUncertain significance
LMBRD1
(H188Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LMBRD1
(E110D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LMBRD1
(V177M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LMBRD1
(N167S +1 more)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria and homocystinuria type cblF
+1 more
GUncertain significance
LMBRD1
(T139M +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LMBRD1
(E52A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LMBRD1
(C111Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LMBRD1
(Y29C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LMBRD1
(I20V +1 more)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria and homocystinuria type cblF
+1 more
GUncertain significance
LMBRD1
(I59S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
LMBRD1
(S42G)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
LMBRD1
(R39W)
Single nucleotide variant
(5 prime UTR variant +1 more)
Methylmalonic aciduria and homocystinuria type cblF
+1 more
GUncertain significance
LMBRD1
(I25L)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
LMBRD1
(I25V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+2 more
GUncertain significance
LMBRD1
(L22R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LMBRD1
(L11P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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