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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MCCC2
(R180*)
Single nucleotide variant
(nonsense)
3-methylcrotonyl-CoA carboxylase 2 deficiency
+1 more
GPathogenic
MCCC2
(A276T +1 more)
Single nucleotide variant
(missense variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GUncertain significance
MCCC2
(V339M +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
MCCC2
(L361Q +1 more)
Single nucleotide variant
(missense variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GUncertain significance
MCCC2
Single nucleotide variant
(synonymous variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
+2 more
GBenign
MCCC2
(R469H +1 more)
Single nucleotide variant
(missense variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
+1 more
GUncertain significance
MCCC2
(N480K +1 more)
Single nucleotide variant
(missense variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GUncertain significance
MCCC2
(S485G +1 more)
Single nucleotide variant
(missense variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GConflicting classifications of pathogenicity
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