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Items: 1 to 100 of 779

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTBL2, ADAMTS12
+1445 more
Copy number gain
See cases
GPathogenic
LINC02219, LINC02229
+265 more
Copy number loss
Intellectual disability
GLikely pathogenic
BDP1, CARTPT
+20 more
Copy number gain
Autism spectrum disorder
GUncertain significance
MCCC2
Single nucleotide variant
not provided
GBenign
MCCC2
Single nucleotide variant
not provided
GBenign
MCCC2
Single nucleotide variant
not provided
GLikely benign
MCCC2
Single nucleotide variant
not provided
+1 more
GBenign
MCCC2
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GConflicting classifications of pathogenicity
MCCC2
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
MCCC2
(W2fs)
Deletion
(frameshift variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GPathogenic
MCCC2
(W2C)
Single nucleotide variant
(missense variant)
not provided
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
GLikely benign
MCCC2
Single nucleotide variant
(synonymous variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
(P11L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MCCC2
(A13G)
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
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
GLikely benign
MCCC2
Single nucleotide variant
(synonymous variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
(P20S)
Single nucleotide variant
(missense variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
+1 more
GUncertain significance
MCCC2
Single nucleotide variant
(synonymous variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
(R21C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MCCC2
(Y23C)
Single nucleotide variant
(missense variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely pathogenic
MCCC2
(Y23S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
MCCC2
(H24fs)
Deletion
(frameshift variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GPathogenic
MCCC2
(H24fs)
Deletion
(frameshift variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely pathogenic
MCCC2
Single nucleotide variant
(synonymous variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
(H24Q)
Single nucleotide variant
(missense variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GUncertain significance
MCCC2
(D26fs)
Deletion
(frameshift 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
(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
GBenign
MCCC2
Single nucleotide variant
(synonymous variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
(T33I)
Single nucleotide variant
(missense variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GUncertain significance
MCCC2
(Q34*)
Single nucleotide variant
(nonsense)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GPathogenic
MCCC2
(P35T)
Single nucleotide variant
(missense variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GUncertain significance
MCCC2
(P35L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
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
GLikely benign
MCCC2
Single nucleotide variant
(synonymous variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
+1 more
GLikely benign
MCCC2
(S39F)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
MCCC2
Single nucleotide variant
(synonymous 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
(Y42C)
Single nucleotide variant
(missense variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GUncertain significance
MCCC2
(Q43*)
Single nucleotide variant
(nonsense)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GPathogenic/Likely pathogenic
MCCC2
Single nucleotide variant
(synonymous 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 pathogenic
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
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MCCC2
Deletion
(intron variant)
not provided
GLikely benign
MCCC2
Single nucleotide variant
(intron variant)
not provided
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
GLikely pathogenic
MCCC2
(Y46C)
Single nucleotide variant
(missense variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GUncertain significance
MCCC2
(Q48*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
MCCC2
(M49I)
Single nucleotide variant
(missense variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GUncertain significance
MCCC2
(A51V)
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
GLikely benign
MCCC2
(H57R)
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
(R59*)
Single nucleotide variant
(nonsense)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GPathogenic/Likely pathogenic
MCCC2
(R59Q)
Single nucleotide variant
(missense variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GUncertain significance
MCCC2
(E61*)
Single nucleotide variant
(nonsense)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GPathogenic
MCCC2
Single nucleotide variant
(synonymous variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
(H62R)
Single nucleotide variant
(missense variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GUncertain significance
MCCC2
(K64*)
Single nucleotide variant
(nonsense)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GPathogenic/Likely pathogenic
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GUncertain significance
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
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
Duplication
(intron variant)
not provided
GLikely benign
MCCC2
Insertion
(intron variant)
not provided
GBenign
MCCC2
Deletion
(intron variant)
not provided
GLikely benign
MCCC2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MCCC2
Duplication
(intron variant)
not provided
GBenign
MCCC2
Deletion
(intron variant)
not provided
GBenign
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
Single nucleotide variant
(synonymous variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
(R72G)
Single nucleotide variant
(missense variant)
MCCC2-related disorder
GUncertain significance
MCCC2
(R72*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
MCCC2
Single nucleotide variant
(synonymous variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GLikely benign
MCCC2
(H75R)
Single nucleotide variant
(missense variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GUncertain significance
MCCC2
(I76L)
Single nucleotide variant
(missense variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GUncertain significance
MCCC2
(S77*)
Single nucleotide variant
(nonsense)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GPathogenic/Likely pathogenic
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
GLikely benign
MCCC2
(P83R)
Single nucleotide variant
(missense variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
GUncertain significance
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