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Links from MedGen

Items: 1 to 100 of 646

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MCCC2
(A466V +1 more)
Single nucleotide variant
(missense variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GUncertain significance
MCCC2
Deletion
(splice acceptor variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely pathogenic
MCCC2
(H75R)
Single nucleotide variant
(missense variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GUncertain significance
MCCC2
(K345* +1 more)
Single nucleotide variant
(nonsense)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely pathogenic
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GUncertain significance
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
(S506N +1 more)
Single nucleotide variant
(missense variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GUncertain significance
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(synonymous variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(synonymous variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
(E215fs +1 more)
Insertion
(frameshift variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GPathogenic
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(synonymous variant +1 more)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(synonymous variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
(L41R)
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
GLikely benign
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(synonymous variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(synonymous variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(synonymous variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(synonymous variant +1 more)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(synonymous variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Deletion
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(synonymous variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Microsatellite
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(synonymous variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Insertion
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(synonymous variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(synonymous variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(synonymous variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
(W2fs)
Deletion
(frameshift variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GPathogenic
MCCC2
(H24fs)
Deletion
(frameshift variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GPathogenic
MCCC2
(F185S)
Single nucleotide variant
(missense variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GUncertain significance
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
(L246fs)
Deletion
(intron variant +1 more)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GPathogenic
MCCC2
(D264fs +1 more)
Deletion
(frameshift variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GPathogenic
MCCC2
Single nucleotide variant
(splice acceptor variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely pathogenic
MCCC2
Single nucleotide variant
(synonymous variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GUncertain significance
MCCC2
Deletion
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
(Q458* +1 more)
Single nucleotide variant
(nonsense)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GPathogenic
MCCC2
Deletion
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GBenign
MCCC2
(V283A +1 more)
Single nucleotide variant
(missense variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GUncertain significance
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(splice donor variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely pathogenic
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(synonymous variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(synonymous variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
(P224T)
Single nucleotide variant
(missense variant +1 more)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GUncertain significance
MCCC2
Single nucleotide variant
(synonymous variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(synonymous variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
(Y222fs)
Deletion
(frameshift variant +1 more)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GPathogenic
MCCC2
(S406Y +1 more)
Single nucleotide variant
(missense variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GUncertain significance
MCCC2
Single nucleotide variant
(splice donor variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely pathogenic
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
(G314V +1 more)
Single nucleotide variant
(missense variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GUncertain significance
MCCC2
Single nucleotide variant
(synonymous variant +1 more)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(synonymous variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(splice acceptor variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GPathogenic
MCCC2
Single nucleotide variant
(synonymous variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(synonymous variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
+1 more
GLikely benign
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
(Y23C)
Single nucleotide variant
(missense variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely pathogenic
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
(T556N +1 more)
Single nucleotide variant
(missense variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely pathogenic
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