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Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MCCC2
(W2C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MCCC2
(S39F)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
MCCC2
(Q48*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
MCCC2
(R72*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
MCCC2
(E99Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
MCCC2
(S127*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
MCCC2
(T149I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MCCC2
(A160T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MCCC2
(S173W)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
MCCC2
Indel
(inframe_indel)
not specified
+2 more
GConflicting classifications of pathogenicity
MCCC2
(H190Y)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MCCC2
(I200N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MCCC2
(A218T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
MCCC2
Single nucleotide variant
(intron variant)
3-methylcrotonyl-CoA carboxylase 2 deficiency
+1 more
GConflicting classifications of pathogenicity
MCCC2
(V272G +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MCCC2
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
MCCC2
(R332* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
MCCC2
(D340V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MCCC2
(L355F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
MCCC2
(R361* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
MCCC2
(A456V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MCCC2
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
MCCC2
(S433fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
MCCC2
(A478G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
MCCC2
(V481M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MCCC2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MCCC2
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
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