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Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MCCC2
(P20S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
MCCC2
(R21C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCCC2
(Y23S)
Single nucleotide variant
(missense variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
+1 more
GConflicting classifications of pathogenicity
MCCC2
(P35L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCCC2
(G94V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCCC2
Single nucleotide variant
(intron variant)
Inborn genetic diseases
GUncertain significance
MCCC2
(V114M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCCC2
(K141R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MCCC2
(Y145D)
Single nucleotide variant
(missense variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
+1 more
GUncertain significance
MCCC2
(V150M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCCC2
(Y177C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCCC2
(D189G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCCC2
(R234C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
MCCC2
(R234H)
Single nucleotide variant
(missense variant +1 more)
3-methylcrotonyl-CoA carboxylase 2 deficiency
+1 more
GUncertain significance
MCCC2
(D221Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCCC2
Single nucleotide variant
(intron variant)
Inborn genetic diseases
GUncertain significance
MCCC2
(I266T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCCC2
(E267G +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
MCCC2
(S290R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCCC2
(V339M +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
MCCC2
(L355F +1 more)
Single nucleotide variant
(missense variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
+2 more
GPathogenic/Likely pathogenic
MCCC2
(V329A +1 more)
Single nucleotide variant
(missense variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
+1 more
GUncertain significance
MCCC2
(A428T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MCCC2
(G475R +1 more)
Single nucleotide variant
(missense variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
+3 more
GPathogenic/Likely pathogenic
MCCC2
(A478G +1 more)
Single nucleotide variant
(missense variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
+3 more
GConflicting classifications of pathogenicity
MCCC2
(N442K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCCC2
(T446M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCCC2
(S460F +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
MCCC2
(I553V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
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