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Links from MedGen

Items: 1 to 100 of 109

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MCCC2
Deletion
(frameshift variant)
Methylcrotonyl-CoA carboxylase deficiency
GPathogenic
MCCC2
Single nucleotide variant
(splice donor variant)
Methylcrotonyl-CoA carboxylase deficiency
+1 more
GLikely pathogenic
MCCC1
(I20N +1 more)
Single nucleotide variant
(missense variant +3 more)
Methylcrotonyl-CoA carboxylase deficiency
+1 more
GPathogenic/Likely pathogenic
MCCC2
(G105fs)
Deletion
(frameshift variant)
Methylcrotonyl-CoA carboxylase deficiency
GLikely pathogenic
MCCC2
(G352R +1 more)
Single nucleotide variant
(missense variant)
Methylcrotonyl-CoA carboxylase deficiency
+1 more
GPathogenic/Likely pathogenic
MCCC2
(V396L +1 more)
Single nucleotide variant
(missense variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
+2 more
GConflicting classifications of pathogenicity
MCCC1
(R339H +2 more)
Single nucleotide variant
(missense variant +1 more)
3-methylcrotonyl-CoA carboxylase 1 deficiency
GUncertain significance
MCCC1
(H359L +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Methylcrotonyl-CoA carboxylase deficiency
GUncertain significance
MCCC1
(H375R +2 more)
Single nucleotide variant
(missense variant +1 more)
Methylcrotonyl-CoA carboxylase deficiency
GUncertain significance
MCCC1
Single nucleotide variant
(synonymous variant +1 more)
3-methylcrotonyl-CoA carboxylase 1 deficiency
GLikely benign
MCCC1
(H453R +2 more)
Single nucleotide variant
(missense variant +1 more)
3-methylcrotonyl-CoA carboxylase 1 deficiency
GUncertain significance
MCCC1
(G455A +2 more)
Single nucleotide variant
(missense variant +1 more)
3-methylcrotonyl-CoA carboxylase 1 deficiency
GUncertain significance
MCCC1
Single nucleotide variant
(synonymous variant +1 more)
3-methylcrotonyl-CoA carboxylase 1 deficiency
GLikely benign
MCCC1
(V580M +2 more)
Single nucleotide variant
(missense variant +1 more)
3-methylcrotonyl-CoA carboxylase 1 deficiency
GUncertain significance
MCCC2
Single nucleotide variant
(3 prime UTR variant)
MCCC2-related condition
GLikely benign
MCCC2
Single nucleotide variant
(synonymous variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
+1 more
GLikely benign
MCCC2
(K517N +1 more)
Single nucleotide variant
(missense variant)
Methylcrotonyl-CoA carboxylase deficiency
GUncertain significance
MCCC2
Single nucleotide variant
(synonymous variant)
Methylcrotonyl-CoA carboxylase deficiency
GUncertain significance
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
(R454W +1 more)
Single nucleotide variant
(missense variant)
Methylcrotonyl-CoA carboxylase deficiency
GUncertain significance
MCCC2
(N442D +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
GLikely benign
MCCC2
Single nucleotide variant
(synonymous variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GUncertain significance
MCCC2
(G336R +1 more)
Single nucleotide variant
(missense variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GUncertain significance
MCCC2
(D221Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCCC2
(T217I)
Single nucleotide variant
(missense variant +1 more)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GUncertain significance
MCCC2
Single nucleotide variant
(synonymous variant)
Methylcrotonyl-CoA carboxylase deficiency
GUncertain significance
MCCC2
Single nucleotide variant
(synonymous variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
+1 more
GLikely benign
MCCC2
(V129I)
Single nucleotide variant
(missense variant)
Methylcrotonyl-CoA carboxylase deficiency
GUncertain significance
MCCC2
Single nucleotide variant
(synonymous variant)
Methylcrotonyl-CoA carboxylase deficiency
GUncertain significance
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GUncertain significance
MCCC1
(K70E)
Single nucleotide variant
(missense variant +2 more)
3-methylcrotonyl-CoA carboxylase 1 deficiency
GUncertain significance
MCCC1
(Q105R +1 more)
Single nucleotide variant
(missense variant +2 more)
Methylcrotonyl-CoA carboxylase deficiency
GUncertain significance
MCCC1
(A121V +1 more)
Single nucleotide variant
(synonymous variant +2 more)
3-methylcrotonyl-CoA carboxylase 1 deficiency
GUncertain significance
MCCC1
(I125V +1 more)
Single nucleotide variant
(missense variant +2 more)
3-methylcrotonyl-CoA carboxylase 1 deficiency
GUncertain significance
MCCC1
Single nucleotide variant
(synonymous variant +2 more)
3-methylcrotonyl-CoA carboxylase 1 deficiency
GLikely benign
MCCC1
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 1 deficiency
GLikely benign
MCCC1
Single nucleotide variant
(synonymous variant +1 more)
Methylcrotonyl-CoA carboxylase deficiency
GUncertain significance
MCCC1
(I233V +2 more)
Single nucleotide variant
(missense variant +1 more)
3-methylcrotonyl-CoA carboxylase 1 deficiency
GUncertain significance
MCCC1
(V303A +2 more)
Single nucleotide variant
(missense variant +1 more)
3-methylcrotonyl-CoA carboxylase 1 deficiency
GUncertain significance
MCCC1
(Y473H +2 more)
Single nucleotide variant
(missense variant +1 more)
3-methylcrotonyl-CoA carboxylase 1 deficiency
GUncertain significance
MCCC2
(E515D +1 more)
Single nucleotide variant
(missense variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
(E267G +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
MCCC1
(V319M +2 more)
Single nucleotide variant
(missense variant +1 more)
3-methylcrotonyl-CoA carboxylase 1 deficiency
GUncertain significance
MCCC2
(V337A +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
(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
(synonymous variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
+1 more
GBenign/Likely benign
MCCC1
Single nucleotide variant
(synonymous variant +1 more)
MCCC1-related condition
+1 more
GLikely benign
MCCC1
(A337V +2 more)
Single nucleotide variant
(missense variant +1 more)
MCCC1-related condition
+1 more
GConflicting classifications of pathogenicity
MCCC1
(I325M +2 more)
Single nucleotide variant
(missense variant +1 more)
3-methylcrotonyl-CoA carboxylase 1 deficiency
+2 more
GPathogenic/Likely pathogenic
MCCC1
(K211N +2 more)
Single nucleotide variant
(missense variant +1 more)
3-methylcrotonyl-CoA carboxylase 1 deficiency
GLikely benign
MCCC1
(Q186fs +2 more)
Deletion
(frameshift variant +1 more)
not provided
+2 more
GPathogenic
MCCC2
(G214A)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
MCCC1
(A435T +2 more)
Single nucleotide variant
(missense variant +1 more)
3-methylcrotonyl-CoA carboxylase 1 deficiency
GPathogenic
MCCC1
(A412T +2 more)
Single nucleotide variant
(missense variant +1 more)
3-methylcrotonyl-CoA carboxylase 1 deficiency
+1 more
GUncertain significance
MCCC2
(N230D)
Single nucleotide variant
(missense variant +1 more)
3-methylcrotonyl-CoA carboxylase 2 deficiency
+1 more
GPathogenic/Likely pathogenic
MCCC2
Single nucleotide variant
(stop lost)
not specified
+1 more
GConflicting classifications of pathogenicity
MCCC2
(A428T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MCCC2
(E502Q +1 more)
Single nucleotide variant
(missense variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GUncertain significance
MCCC1
(G648S +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
MCCC1
(R66C)
Single nucleotide variant
(missense variant +2 more)
Methylcrotonyl-CoA carboxylase deficiency
+1 more
GLikely pathogenic
MCCC2
Single nucleotide variant
(splice donor variant)
Methylcrotonyl-CoA carboxylase deficiency
+1 more
GLikely pathogenic
MCCC2
(S508* +1 more)
Duplication
(nonsense)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GConflicting classifications of pathogenicity
MCCC2
(V272G +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MCCC2
(R180*)
Single nucleotide variant
(nonsense)
3-methylcrotonyl-CoA carboxylase 2 deficiency
+1 more
GPathogenic
MCCC1
(A291V +2 more)
Single nucleotide variant
(missense variant +1 more)
3-methylcrotonyl-CoA carboxylase 1 deficiency
+2 more
GPathogenic/Likely pathogenic
MCCC1
(E288G +2 more)
Single nucleotide variant
(missense variant +1 more)
3-methylcrotonyl-CoA carboxylase 1 deficiency
+1 more
GConflicting classifications of pathogenicity
MCCC1
Single nucleotide variant
(splice donor variant)
3-methylcrotonyl-CoA carboxylase 1 deficiency
GPathogenic
MCCC1
(R421W +2 more)
Single nucleotide variant
(missense variant +1 more)
3-methylcrotonyl-CoA carboxylase 1 deficiency
GConflicting classifications of pathogenicity
MCCC2
(R332Q +1 more)
Single nucleotide variant
(missense variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
+1 more
GConflicting classifications of pathogenicity
MCCC2
Duplication
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
+1 more
GBenign
MCCC2
(Y520S +1 more)
Single nucleotide variant
(missense variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GPathogenic
MCCC2
(G475R +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
MCCC2
Deletion
(3 prime UTR variant)
Methylcrotonyl-CoA carboxylase deficiency
GUncertain significance
MCCC1
Single nucleotide variant
(5 prime UTR variant)
Methylcrotonyl-CoA carboxylase deficiency
GUncertain significance
LOC129938008, MCCC1
Single nucleotide variant
(5 prime UTR variant)
Methylcrotonyl-CoA carboxylase deficiency
GUncertain significance
LOC129938008, MCCC1
Single nucleotide variant
(5 prime UTR variant)
Methylcrotonyl-CoA carboxylase deficiency
GUncertain significance
LOC129938008, MCCC1
Single nucleotide variant
(5 prime UTR variant)
3-methylcrotonyl-CoA carboxylase 1 deficiency
+1 more
GBenign
MCCC1
(R208Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
MCCC1
Deletion
(splice acceptor variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MCCC1
Single nucleotide variant
(synonymous variant +1 more)
3-methylcrotonyl-CoA carboxylase 1 deficiency
+1 more
GConflicting classifications of pathogenicity
MCCC1
(C332G +2 more)
Single nucleotide variant
(missense variant +1 more)
Methylcrotonyl-CoA carboxylase deficiency
GUncertain significance
MCCC1
(R500Q +2 more)
Single nucleotide variant
(missense variant +1 more)
MCCC1-related condition
+2 more
GBenign/Likely benign
MCCC1
Microsatellite
(intron variant)
3-methylcrotonyl-CoA carboxylase 1 deficiency
+1 more
GConflicting classifications of pathogenicity
MCCC2
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
MCCC2
(I441T +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
MCCC2
(L355F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
MCCC2
(V339M +1 more)
Single nucleotide variant
(missense variant)
MCCC2-related condition
+5 more
GConflicting classifications of pathogenicity
MCCC2
(R193C)
Single nucleotide variant
(missense variant)
Methylcrotonyl-CoA carboxylase deficiency
+1 more
GPathogenic/Likely pathogenic
MCCC1
(R444H +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
MCCC1
(R281* +2 more)
Single nucleotide variant
(nonsense +1 more)
MCCC1-related condition
+2 more
GPathogenic/Likely pathogenic
MCCC1
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
MCCC2
(H190Y)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MCCC2
(V481M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MCCC1
(Q372* +2 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+2 more
GPathogenic
MCCC2
(I200N)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
MCCC1
Single nucleotide variant
(synonymous variant +1 more)
3-methylcrotonyl-CoA carboxylase 1 deficiency
+2 more
GUncertain significance
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