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Items: 1 to 100 of 150

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC22A5
(R2G)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
(R2P)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
(A9V)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
(F10L)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
+1 more
GConflicting classifications of pathogenicity
SLC22A5
(G15W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
SLC22A5
(G15E)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GConflicting classifications of pathogenicity
SLC22A5
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
SLC22A5
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
SLC22A5
(S26N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC22A5
(S28R)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
(T35A)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GLikely benign
SLC22A5
(S39A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
SLC22A5
(F41C)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
(P46S)
Single nucleotide variant
(missense variant)
See cases
+2 more
GPathogenic/Likely pathogenic
SLC22A5
(P53R)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
(A55V)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GLikely benign
SLC22A5
(N57K)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
(L58V)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
(S59R)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
(A61V)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
(N64I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SLC22A5
(H65L)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
(T66I)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GConflicting classifications of pathogenicity
SLC22A5
(D73N)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
(G74R)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
(R75S)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
(H79N)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
(R82L)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
+1 more
GConflicting classifications of pathogenicity
SLC22A5
(R85Q)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
(A90V)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GLikely benign
SLC22A5
(N91S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC22A5
(F92V)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
(A94V)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
SLC22A5
(L97V)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
(L97M)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
(D102N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SLC22A5
(E109Q)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
(C113Y)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
+1 more
GConflicting classifications of pathogenicity
SLC22A5
(L114P)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
(Q121H)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SLC22A5
(V123G)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
(Y124C)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
SLC22A5
(E131K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SLC22A5
(N133H +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
(D138Y +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
(D139N +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GConflicting classifications of pathogenicity
SLC22A5
(P143L +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
+1 more
GConflicting classifications of pathogenicity
SLC22A5
(L168F)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
SLC22A5
(G152D +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
+1 more
GPathogenic/Likely pathogenic
SLC22A5
(I159L +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
(I159T +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
(R166G +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
(M177V +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
+2 more
GConflicting classifications of pathogenicity
SLC22A5
(Q180E +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GConflicting classifications of pathogenicity
SLC22A5
(G182C +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
(G182V +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GLikely benign
SLC22A5
(L186P +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GConflicting classifications of pathogenicity
SLC22A5
(I188V +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GLikely benign
SLC22A5
(K191R +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
+1 more
GConflicting classifications of pathogenicity
SLC22A5
(K191N +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GLikely benign
SLC22A5
(N192S +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GConflicting classifications of pathogenicity
SLC22A5
(V198L +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GConflicting classifications of pathogenicity
SLC22A5
(L202P +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC22A5
(M205L +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
(N234S)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
+1 more
GPathogenic/Likely pathogenic
SLC22A5
(Y211H +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GPathogenic/Likely pathogenic
SLC22A5
(A214V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC22A5
(V216L +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
(R227S +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GLikely pathogenic
SLC22A5
(I229L +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GConflicting classifications of pathogenicity
SLC22A5
(I229T +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
(G234R +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GConflicting classifications of pathogenicity
SLC22A5
(V235G +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
(C236R +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
(Y243S +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
+2 more
GConflicting classifications of pathogenicity
SLC22A5
(R281W)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GConflicting classifications of pathogenicity
SLC22A5
(R257Q +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
(T264R +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
SLC22A5
(P290L +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GConflicting classifications of pathogenicity
SLC22A5
(G267A +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
(G267E +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
(A272P +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GLikely benign
SLC22A5
(W275C +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
(L284F +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
(I285F +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
(R289Q +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
(R298G +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
(A301G +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GConflicting classifications of pathogenicity
SLC22A5
(K302E +1 more)
Single nucleotide variant
(missense variant)
SLC22A5-related disorder
+1 more
GConflicting classifications of pathogenicity
SLC22A5
(I312L +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GLikely benign
SLC22A5
(I312V +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
+2 more
GConflicting classifications of pathogenicity
SLC22A5
(L321V +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
(L334V +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
(T337I +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
+1 more
GUncertain significance
SLC22A5
(N339S +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
SLC22A5
(I340F +1 more)
Single nucleotide variant
(missense variant)
Renal carnitine transport defect
GUncertain significance
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