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Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +3 more)
not provided
GUncertain significance
AMACR, C1QTNF3-AMACR
(S375G)
Single nucleotide variant
(non-coding transcript variant +2 more)
Alpha-methylacyl-CoA racemase deficiency
+1 more
GUncertain significance
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +2 more)
Alpha-methylacyl-CoA racemase deficiency
+1 more
GConflicting classifications of pathogenicity
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +2 more)
AMACR-related condition
+2 more
GConflicting classifications of pathogenicity
AMACR, C1QTNF3-AMACR
(E282Q)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
+4 more
GConflicting classifications of pathogenicity
AMACR, C1QTNF3-AMACR
(D262G)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
+1 more
GUncertain significance
AMACR, C1QTNF3-AMACR
(D262V)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
AMACR, C1QTNF3-AMACR
(M261I)
Single nucleotide variant
(non-coding transcript variant +2 more)
Congenital bile acid synthesis defect 4
+2 more
GUncertain significance
AMACR, C1QTNF3-AMACR
(N257S)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
+1 more
GUncertain significance
AMACR, C1QTNF3-AMACR
(Q239H +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+1 more
GBenign
AMACR, C1QTNF3-AMACR
(P185A)
Single nucleotide variant
(non-coding transcript variant +2 more)
AMACR-related condition
+2 more
GConflicting classifications of pathogenicity
AMACR, C1QTNF3-AMACR
(T221M)
Single nucleotide variant
(non-coding transcript variant +2 more)
Alpha-methylacyl-CoA racemase deficiency
+1 more
GUncertain significance
AMACR, C1QTNF3-AMACR
(G209R +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Alpha-methylacyl-CoA racemase deficiency
+2 more
GUncertain significance
AMACR, C1QTNF3-AMACR
(A189E +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GUncertain significance
AMACR, C1QTNF3-AMACR
(V185A)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
AMACR, C1QTNF3-AMACR
(G175D)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign
AMACR, C1QTNF3-AMACR
(R171C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign/Likely benign
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(synonymous variant +1 more)
AMACR-related condition
+2 more
GConflicting classifications of pathogenicity
AMACR, C1QTNF3-AMACR
(G137D)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
AMACR, C1QTNF3-AMACR
(R97P)
Single nucleotide variant
(non-coding transcript variant +1 more)
Alpha-methylacyl-CoA racemase deficiency
+1 more
GUncertain significance
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(intron variant)
Alpha-methylacyl-CoA racemase deficiency
+1 more
GConflicting classifications of pathogenicity
C1QTNF3-AMACR, AMACR
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(synonymous variant)
Alpha-methylacyl-CoA racemase deficiency
+1 more
GConflicting classifications of pathogenicity
AMACR, C1QTNF3-AMACR
(R61P)
Single nucleotide variant
(missense variant)
Congenital bile acid synthesis defect 4
+2 more
GUncertain significance
AMACR, C1QTNF3-AMACR
(S52P)
Single nucleotide variant
(missense variant)
AMACR-related condition
+2 more
GPathogenic/Likely pathogenic
AMACR, C1QTNF3-AMACR
(V43R)
Indel
(missense variant)
not provided
+1 more
GUncertain significance
AMACR, C1QTNF3-AMACR
(P37T)
Single nucleotide variant
(missense variant)
AMACR-related condition
+2 more
GConflicting classifications of pathogenicity
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(synonymous variant)
AMACR-related condition
+2 more
GConflicting classifications of pathogenicity
AMACR, C1QTNF3-AMACR
(V9M)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
AMACR, C1QTNF3-AMACR
(M1L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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