U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MCCC1
Deletion
(frameshift variant +1 more)
MCCC1-related condition
+2 more
GPathogenic/Likely pathogenic
MCCC1
Deletion
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
MCCC1
(K635fs +2 more)
Deletion
(frameshift variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
MCCC1
(T567M +2 more)
Single nucleotide variant
(missense variant +1 more)
3-methylcrotonyl-CoA carboxylase 1 deficiency
+1 more
GUncertain significance
MCCC1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign/Likely benign
MCCC1
(C392fs +2 more)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
MCCC1
(I467F +2 more)
Single nucleotide variant
(missense variant +1 more)
3-methylcrotonyl-CoA carboxylase 1 deficiency
+1 more
GUncertain significance
MCCC1
(H464P +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign
MCCC1
(V439M +2 more)
Single nucleotide variant
(missense variant +1 more)
MCCC1-related condition
+2 more
GConflicting classifications of pathogenicity
MCCC1
(V426A +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
MCCC1
(Q305fs +2 more)
Duplication
(frameshift variant +1 more)
3-methylcrotonyl-CoA carboxylase 1 deficiency
+1 more
GPathogenic
MCCC1
(R385S +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
MCCC1
(H380P +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
MCCC1
(Q372* +2 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+2 more
GPathogenic
MCCC1
(W249fs +2 more)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
MCCC1
(M325R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
MCCC1
(Y315* +2 more)
Single nucleotide variant
(nonsense +1 more)
3-methylcrotonyl-CoA carboxylase 1 deficiency
+1 more
GPathogenic
MCCC1
Single nucleotide variant
(synonymous variant +1 more)
3-methylcrotonyl-CoA carboxylase 1 deficiency
+2 more
GUncertain significance
MCCC1
(A291V +2 more)
Single nucleotide variant
(missense variant +1 more)
3-methylcrotonyl-CoA carboxylase 1 deficiency
+2 more
GPathogenic/Likely pathogenic
MCCC1
(R281* +2 more)
Single nucleotide variant
(nonsense +1 more)
MCCC1-related condition
+2 more
GPathogenic/Likely pathogenic
MCCC1
(R232W +2 more)
Single nucleotide variant
(missense variant +1 more)
MCCC1-related condition
+2 more
GUncertain significance
MCCC1
Deletion
(splice acceptor variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MCCC1
Single nucleotide variant
(splice acceptor variant)
MCCC1-related condition
+2 more
GPathogenic/Likely pathogenic
MCCC1
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
MCCC1
(S187P +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
MCCC1
Single nucleotide variant
(synonymous variant +2 more)
not specified
+2 more
GBenign
MCCC1
(K69*)
Single nucleotide variant
(nonsense +2 more)
not provided
GPathogenic
MCCC1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GConflicting classifications of pathogenicity
MCCC1
Single nucleotide variant
(intron variant +1 more)
3-methylcrotonyl-CoA carboxylase 1 deficiency
+1 more
GPathogenic/Likely pathogenic
Format
Items per page
Sort by
Choose Destination