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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MCCC1
Single nucleotide variant
(synonymous variant +1 more)
3-methylcrotonyl-CoA carboxylase 1 deficiency
+2 more
GBenign/Likely benign
MCCC1
(H464P +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign
MCCC1
(V322L +2 more)
Single nucleotide variant
(missense variant +1 more)
3-methylcrotonyl-CoA carboxylase 1 deficiency
GConflicting classifications of pathogenicity
MCCC1
(R115Q +2 more)
Single nucleotide variant
(missense variant +1 more)
3-methylcrotonyl-CoA carboxylase 1 deficiency
GUncertain significance
MCCC1
(V207I +2 more)
Single nucleotide variant
(missense variant +1 more)
3-methylcrotonyl-CoA carboxylase 1 deficiency
GUncertain significance
MCCC1
(S168Y +2 more)
Single nucleotide variant
(missense variant +1 more)
3-methylcrotonyl-CoA carboxylase 1 deficiency
GUncertain significance
MCCC1
Single nucleotide variant
(synonymous variant +2 more)
3-methylcrotonyl-CoA carboxylase 1 deficiency
GUncertain significance
MCCC1
Single nucleotide variant
(synonymous variant +2 more)
not provided
+2 more
GBenign
MCCC1
(A121V +1 more)
Single nucleotide variant
(synonymous variant +2 more)
3-methylcrotonyl-CoA carboxylase 1 deficiency
GUncertain significance
MCCC1
Single nucleotide variant
(synonymous variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
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