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Items: 73

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC25A13
(G649R +1 more)
Single nucleotide variant
(missense variant +1 more)
Citrullinemia type I
+4 more
GUncertain significance
SLC25A13
(A648V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A13
(G639D +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A13
(V637A +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
SLC25A13
(V637L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
Citrin deficiency
+1 more
GConflicting classifications of pathogenicity
SLC25A13
(R605Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Citrin deficiency
+3 more
GUncertain significance
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
Citrin deficiency
+1 more
GConflicting classifications of pathogenicity
SLC25A13
(F593L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A13
(R588Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Citrin deficiency
+3 more
GConflicting classifications of pathogenicity
SLC25A13
(R585H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SLC25A13
Deletion
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
Citrin deficiency
+1 more
GConflicting classifications of pathogenicity
SLC25A13
(G561R +1 more)
Single nucleotide variant
(missense variant +1 more)
Citrin deficiency
+1 more
GUncertain significance
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
Citrin deficiency
+3 more
GConflicting classifications of pathogenicity
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
not provided
+4 more
GBenign/Likely benign
SLC25A13
(Q556R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
Citrin deficiency
+2 more
GConflicting classifications of pathogenicity
SLC25A13
(A555fs +1 more)
Duplication
(frameshift variant +1 more)
not provided
+4 more
GPathogenic
SLC25A13
(R553Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Citrullinemia type II
+2 more
GUncertain significance
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
Citrin deficiency
+1 more
GConflicting classifications of pathogenicity
SLC25A13
(I544fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
SLC25A13
(I544T +1 more)
Single nucleotide variant
(missense variant +1 more)
Citrullinemia, type II, adult-onset
+3 more
GUncertain significance
SLC25A13
(P540S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
SLC25A13
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
Citrin deficiency
+1 more
GConflicting classifications of pathogenicity
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC25A13
(P502L +1 more)
Single nucleotide variant
(missense variant +1 more)
Citrullinemia, type II, adult-onset
+4 more
GConflicting classifications of pathogenicity
SLC25A13
(R492Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Citrin deficiency
+1 more
GUncertain significance
SLC25A13
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SLC25A13
(K484R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
Citrin deficiency
+3 more
GConflicting classifications of pathogenicity
SLC25A13
(R475W +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A13
(R455H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A13
(V452I +1 more)
Single nucleotide variant
(missense variant +1 more)
Citrin deficiency
+3 more
GConflicting classifications of pathogenicity
SLC25A13
(S441F +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A13
Single nucleotide variant
(intron variant)
not provided
+4 more
GConflicting classifications of pathogenicity
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
SLC25A13-related condition
+5 more
GConflicting classifications of pathogenicity
SLC25A13
(D423N +1 more)
Single nucleotide variant
(missense variant +1 more)
Citrin deficiency
+4 more
GUncertain significance
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
Citrin deficiency
+3 more
GConflicting classifications of pathogenicity
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
SLC25A13
(G393S +1 more)
Single nucleotide variant
(missense variant +1 more)
Citrullinemia, type II, adult-onset
+1 more
GConflicting classifications of pathogenicity
SLC25A13
(R383C +1 more)
Single nucleotide variant
(missense variant +1 more)
Citrin deficiency
+1 more
GUncertain significance
SLC25A13
(Y330H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
Citrin deficiency
+2 more
GConflicting classifications of pathogenicity
SLC25A13
(A306T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SLC25A13
(P295L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
Citrin deficiency
+2 more
GConflicting classifications of pathogenicity
SLC25A13
(R292Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
SLC25A13
(R292W)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SLC25A13
(M285fs)
Deletion
(frameshift variant +1 more)
Neonatal intrahepatic cholestasis due to citrin deficiency
+5 more
GPathogenic
SLC25A13
(R284H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A13
Single nucleotide variant
(intron variant)
not specified
+3 more
GConflicting classifications of pathogenicity
SLC25A13
(F273L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A13
(M267T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A13
(V264I)
Single nucleotide variant
(missense variant +1 more)
Citrin deficiency
+3 more
GConflicting classifications of pathogenicity
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC25A13
(S212F)
Single nucleotide variant
(missense variant +1 more)
Citrullinemia type II
+1 more
GUncertain significance
SLC25A13
Single nucleotide variant
(intron variant)
SLC25A13-related condition
+5 more
GPathogenic/Likely pathogenic
SLC25A13
(R191C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SLC25A13
(A163T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
Citrin deficiency
+1 more
GConflicting classifications of pathogenicity
SLC25A13
(T152A)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SLC25A13
(T120A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A13
(V79I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC25A13
(V65M)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
SLC25A13
(S62N)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
SLC25A13
(P53L)
Single nucleotide variant
(missense variant +1 more)
Citrin deficiency
+1 more
GUncertain significance
SLC25A13
Single nucleotide variant
(splice acceptor variant)
Citrullinemia, type II, adult-onset
+2 more
GPathogenic/Likely pathogenic
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
LOC129998833, SLC25A13
(M1K)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
LOC129998833, SLC25A13
(M1T)
Single nucleotide variant
(missense variant +2 more)
not provided
+6 more
GUncertain significance
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