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Items: 45

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC22A5
(G12D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SLC22A5
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
SLC22A5
(R19P)
Indel
(missense variant)
Renal carnitine transport defect
+1 more
GPathogenic
SLC22A5
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC22A5
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SLC22A5
(N32H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC22A5
Single nucleotide variant
(missense variant)
not specified
+2 more
GPathogenic
SLC22A5
(P46S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
SLC22A5
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC22A5
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC22A5
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
SLC22A5
(C113Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC22A5
(W117R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SLC22A5
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SLC22A5
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
SLC22A5
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic
SLC22A5
(A166S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
SLC22A5
(L168F)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
SLC22A5
(V175M)
Single nucleotide variant
(missense variant)
SLC22A5-related condition
+2 more
GConflicting classifications of pathogenicity
SLC22A5
(V153fs +1 more)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic
SLC22A5
(V175M +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
SLC22A5
(K191R +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
+1 more
GConflicting classifications of pathogenicity
SLC22A5
(Y211C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
SLC22A5
(A214V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC22A5
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
SLC22A5
(T256M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
SLC22A5
(R254* +1 more)
Single nucleotide variant
(nonsense)
Renal carnitine transport defect
+2 more
GPathogenic
SLC22A5
(R278Q)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
SLC22A5
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
SLC22A5
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SLC22A5
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
SLC22A5
(R306Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic
SLC22A5
(S362L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC22A5
(P422L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
SLC22A5
(R399W +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
+1 more
GPathogenic/Likely pathogenic
SLC22A5
(Y401* +1 more)
Duplication
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
SLC22A5
(G410D +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
+1 more
GConflicting classifications of pathogenicity
SLC22A5
(T464M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic
SLC22A5
(Y473D)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
SLC22A5
(E476K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC22A5
(T456R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC22A5
(S491C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
SLC22A5
(R488H +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
SLC22A5
(G496R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC22A5
(M541L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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