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Links from MedGen

Items: 55

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC25A13
(E450G +1 more)
Single nucleotide variant
(missense variant +1 more)
Neonatal intrahepatic cholestasis due to citrin deficiency
GUncertain significance
SLC25A13
Single nucleotide variant
(intron variant)
Neonatal intrahepatic cholestasis due to citrin deficiency
+1 more
GConflicting classifications of pathogenicity
SLC25A13
(R492W +1 more)
Single nucleotide variant
(missense variant +1 more)
Neonatal intrahepatic cholestasis due to citrin deficiency
GPathogenic
SLC25A13
Insertion
(intron variant)
Neonatal intrahepatic cholestasis due to citrin deficiency
GPathogenic
SLC25A13
Deletion
(splice acceptor variant)
Neonatal intrahepatic cholestasis due to citrin deficiency
GPathogenic
SLC25A13
(N652K +3 more)
Single nucleotide variant
(missense variant +2 more)
Neonatal intrahepatic cholestasis due to citrin deficiency
GPathogenic
SLC25A13
(E252K)
Single nucleotide variant
(missense variant +1 more)
Citrullinemia, type II, adult-onset
+3 more
GPathogenic/Likely pathogenic
SLC25A13
Single nucleotide variant
(splice acceptor variant)
Neonatal intrahepatic cholestasis due to citrin deficiency
+2 more
GPathogenic
SLC25A13
(R43*)
Single nucleotide variant
(nonsense +1 more)
Citrin deficiency
+3 more
GPathogenic/Likely pathogenic
SLC25A13
(T546R +1 more)
Single nucleotide variant
(missense variant +1 more)
SLC25A13-related disorder
+4 more
GConflicting classifications of pathogenicity
SLC25A13
(A25T)
Single nucleotide variant
(missense variant +1 more)
Neonatal intrahepatic cholestasis due to citrin deficiency
+2 more
GUncertain significance
SLC25A13
(G386A +1 more)
Single nucleotide variant
(missense variant +1 more)
Citrullinemia, type II, adult-onset
+2 more
GUncertain significance
SLC25A13
Single nucleotide variant
(intron variant)
Neonatal intrahepatic cholestasis due to citrin deficiency
GPathogenic
SLC25A13
(V474M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
SLC25A13
(R467* +1 more)
Single nucleotide variant
(nonsense +1 more)
Citrullinemia, type II, adult-onset
+3 more
GPathogenic
SLC25A13
Single nucleotide variant
(intron variant)
Citrin deficiency
+3 more
GConflicting classifications of pathogenicity
SLC25A13
Single nucleotide variant
(splice acceptor variant)
SLC25A13-related disorder
+2 more
GPathogenic
SLC25A13
(L45F)
Single nucleotide variant
(missense variant +1 more)
Citrin deficiency
+2 more
GConflicting classifications of pathogenicity
SLC25A13
(R234fs)
Deletion
(frameshift variant +1 more)
Neonatal intrahepatic cholestasis due to citrin deficiency
GLikely pathogenic
SLC25A13
(S375fs +1 more)
Deletion
(frameshift variant +1 more)
Neonatal intrahepatic cholestasis due to citrin deficiency
GLikely pathogenic
SLC25A13
(V411M +1 more)
Single nucleotide variant
(missense variant +1 more)
Citrin deficiency
+2 more
GPathogenic/Likely pathogenic
SLC25A13
(T446P +1 more)
Single nucleotide variant
(missense variant +1 more)
Citrullinemia, type II, adult-onset
+2 more
GConflicting classifications of pathogenicity
SLC25A13
(S62N)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
SLC25A13
(Q165*)
Single nucleotide variant
(nonsense +1 more)
Citrin deficiency
GPathogenic
SLC25A13
(Q557fs +1 more)
Microsatellite
(frameshift variant +1 more)
Neonatal intrahepatic cholestasis due to citrin deficiency
GPathogenic
SLC25A13
(D423N +1 more)
Single nucleotide variant
(missense variant +1 more)
Citrullinemia type II
+4 more
GUncertain significance
SLC25A13
(R605Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Citrin deficiency
+3 more
GUncertain significance
SLC25A13
Single nucleotide variant
(splice donor variant)
Citrullinemia type II
+1 more
GLikely pathogenic
LOC129998833, SLC25A13
Single nucleotide variant
(5 prime UTR variant +1 more)
Citrullinemia type I
+3 more
GUncertain significance
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
Citrin deficiency
+5 more
GConflicting classifications of pathogenicity
SLC25A13
Single nucleotide variant
(intron variant)
Citrullinemia, type II, adult-onset
+6 more
GBenign
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
Citrullinemia type I
+6 more
GBenign
SLC25A13
(A166fs)
Deletion
(frameshift variant +1 more)
Neonatal intrahepatic cholestasis due to citrin deficiency
GPathogenic
SLC25A13
Single nucleotide variant
(intron variant)
Neonatal intrahepatic cholestasis due to citrin deficiency
GUncertain significance
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
Citrin deficiency
GUncertain significance
SLC25A13
(P502L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
SLC25A13
(Q259*)
Single nucleotide variant
(nonsense +1 more)
Citrin deficiency
GPathogenic
SLC25A13
(K653R +1 more)
Single nucleotide variant
(missense variant +1 more)
Neonatal intrahepatic cholestasis due to citrin deficiency
GUncertain significance
SLC25A13
(M285fs)
Deletion
(frameshift variant +1 more)
SLC25A13-related disorder
+5 more
GPathogenic
SLC25A13
(V637A +1 more)
Single nucleotide variant
(missense variant +1 more)
Neonatal intrahepatic cholestasis due to citrin deficiency
+5 more
GConflicting classifications of pathogenicity
LOC129998833, SLC25A13
(M1T)
Single nucleotide variant
(missense variant +2 more)
Citrullinemia type I
+6 more
GUncertain significance
SLC25A13
(R355Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Citrin deficiency
+3 more
GConflicting classifications of pathogenicity
SLC25A13
Single nucleotide variant
(intron variant)
Neonatal intrahepatic cholestasis due to citrin deficiency
+5 more
GPathogenic/Likely pathogenic
SLC25A13
Single nucleotide variant
(splice donor variant)
Neonatal intrahepatic cholestasis due to citrin deficiency
Gnot provided
SLC25A13
(R184*)
Single nucleotide variant
(nonsense +1 more)
Citrullinemia, type II, adult-onset
+3 more
GPathogenic
SLC25A13
(R605* +1 more)
Single nucleotide variant
(nonsense +1 more)
Citrullinemia, type II, adult-onset
+4 more
GPathogenic/Likely pathogenic
SLC25A13
(E601* +1 more)
Single nucleotide variant
(nonsense +1 more)
Citrullinemia, type II, adult-onset
+1 more
GPathogenic
SLC25A13
(E601K +1 more)
Single nucleotide variant
(missense variant +1 more)
Citrin deficiency
GLikely pathogenic
SLC25A13, LOC129998833
Single nucleotide variant
(synonymous variant +1 more)
Citrin deficiency
+1 more
GPathogenic/Likely pathogenic
SLC25A13
(G531D +1 more)
Single nucleotide variant
(missense variant +1 more)
Citrullinemia, type II, adult-onset
+1 more
GLikely pathogenic
SLC25A13
(R588Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Neonatal intrahepatic cholestasis due to citrin deficiency
+3 more
GConflicting classifications of pathogenicity
SLC25A13
(Y600* +1 more)
Duplication
(nonsense +1 more)
Neonatal intrahepatic cholestasis due to citrin deficiency
+2 more
GPathogenic
SLC25A13
(S225*)
Single nucleotide variant
(nonsense +1 more)
Neonatal intrahepatic cholestasis due to citrin deficiency
+3 more
GPathogenic
SLC25A13
(A555fs +1 more)
Duplication
(frameshift variant +1 more)
not provided
+4 more
GPathogenic
SLC25A13
Single nucleotide variant
(splice donor variant)
Neonatal intrahepatic cholestasis due to citrin deficiency
+3 more
GPathogenic
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