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Items: 1 to 100 of 864

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC121740684, LOC121740685
+4735 more
Copy number loss
See cases
GPathogenic
LOC110121296, LOC111365161
+110 more
Copy number loss
See cases
GPathogenic
ASB4, ASNS
+61 more
Copy number loss
See cases
GPathogenic
SLC25A13
Single nucleotide variant
(3 prime UTR variant +1 more)
Citrullinemia type I
+1 more
GUncertain significance
SLC25A13
Single nucleotide variant
(3 prime UTR variant +1 more)
Citrullinemia type II
GUncertain significance
SLC25A13
Single nucleotide variant
(3 prime UTR variant +1 more)
Citrullinemia type I
+1 more
GConflicting classifications of pathogenicity
SLC25A13
Single nucleotide variant
(3 prime UTR variant +1 more)
Citrullinemia type II
GUncertain significance
SLC25A13
Single nucleotide variant
(3 prime UTR variant +1 more)
Citrullinemia type I
+1 more
GUncertain significance
SLC25A13
Deletion
(3 prime UTR variant +1 more)
not provided
GLikely benign
SLC25A13
Single nucleotide variant
(3 prime UTR variant +1 more)
Citrullinemia type II
GUncertain significance
SLC25A13
Single nucleotide variant
(3 prime UTR variant +1 more)
Citrullinemia type I
+1 more
GConflicting classifications of pathogenicity
SLC25A13
Single nucleotide variant
(3 prime UTR variant +1 more)
Citrullinemia type II
+1 more
GUncertain significance
SLC25A13
Single nucleotide variant
(3 prime UTR variant +1 more)
Citrullinemia type II
+1 more
GUncertain significance
SLC25A13
Single nucleotide variant
(3 prime UTR variant +1 more)
Citrullinemia type II
+1 more
GUncertain significance
SLC25A13
Single nucleotide variant
(3 prime UTR variant +1 more)
Citrullinemia type II
+1 more
GUncertain significance
SLC25A13
Single nucleotide variant
(3 prime UTR variant +1 more)
Citrullinemia type II
GUncertain significance
SLC25A13
Single nucleotide variant
(3 prime UTR variant +1 more)
Citrullinemia type II
+1 more
GUncertain significance
SLC25A13
Single nucleotide variant
(3 prime UTR variant +1 more)
Citrullinemia type I
+2 more
GBenign/Likely benign
SLC25A13
Single nucleotide variant
(3 prime UTR variant +1 more)
Citrullinemia type II
GUncertain significance
SLC25A13
Single nucleotide variant
(3 prime UTR variant +1 more)
Citrullinemia type I
+1 more
GUncertain significance
SLC25A13
Single nucleotide variant
(3 prime UTR variant +1 more)
Citrullinemia type II
GUncertain significance
SLC25A13
Single nucleotide variant
(stop lost +1 more)
Citrin deficiency
GUncertain significance
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
Citrin deficiency
GLikely benign
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
Citrin deficiency
GLikely benign
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
Citrin deficiency
GLikely benign
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
Citrin deficiency
GLikely benign
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
Citrin deficiency
GLikely benign
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
Citrin deficiency
GLikely benign
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
Citrin deficiency
GLikely benign
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
Citrin deficiency
GLikely benign
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
Citrin deficiency
GLikely benign
SLC25A13
(F654fs +1 more)
Deletion
(frameshift variant +1 more)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
SLC25A13
(K653R +1 more)
Single nucleotide variant
(missense variant +1 more)
Neonatal intrahepatic cholestasis due to citrin deficiency
GUncertain significance
SLC25A13
(N652K +1 more)
Single nucleotide variant
(missense variant +1 more)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
SLC25A13
(N652K +3 more)
Single nucleotide variant
(missense variant +2 more)
Neonatal intrahepatic cholestasis due to citrin deficiency
GPathogenic
SLC25A13
(N652S +1 more)
Single nucleotide variant
(missense variant +1 more)
Citrin deficiency
GUncertain significance
SLC25A13
(I650V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SLC25A13
(G649R +1 more)
Single nucleotide variant
(missense variant +1 more)
Citrullinemia type II
+4 more
GUncertain significance
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
Citrin deficiency
GLikely benign
SLC25A13
(A648V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
Citrin deficiency
GLikely benign
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
Citrin deficiency
GLikely benign
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
Citrin deficiency
GLikely benign
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
Citrin deficiency
GLikely benign
SLC25A13
(G639fs +1 more)
Deletion
(frameshift variant +1 more)
Citrullinemia type II
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
(V637I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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
GLikely benign
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
Citrin deficiency
GLikely benign
SLC25A13
(D635G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC25A13
(D635Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Citrin deficiency
GLikely benign
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
SLC25A13-related condition
+1 more
GLikely benign
SLC25A13
(P633L +1 more)
Single nucleotide variant
(missense variant +1 more)
Citrin deficiency
GUncertain significance
SLC25A13
(P633S +1 more)
Single nucleotide variant
(missense variant +1 more)
Citrin deficiency
GUncertain significance
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
Citrullinemia type II
+3 more
GBenign/Likely benign
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
Citrin deficiency
GLikely benign
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
Citrin deficiency
GLikely benign
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
Citrin deficiency
GLikely benign
SLC25A13
Single nucleotide variant
(intron variant)
Citrin deficiency
+1 more
GBenign/Likely benign
SLC25A13
Deletion
(splice acceptor variant +1 more)
Citrin deficiency
GUncertain significance
SLC25A13
Single nucleotide variant
(intron variant)
Citrin deficiency
GLikely benign
SLC25A13
Single nucleotide variant
(intron variant)
Citrin deficiency
GLikely benign
SLC25A13
Single nucleotide variant
(intron variant)
Citrin deficiency
GLikely benign
SLC25A13
Single nucleotide variant
(intron variant)
Citrin deficiency
GLikely benign
SLC25A13
Single nucleotide variant
(intron variant)
Citrin deficiency
GLikely benign
SLC25A13
Single nucleotide variant
(intron variant)
Citrin deficiency
+1 more
GLikely benign
SLC25A13
Single nucleotide variant
(intron variant)
Citrin deficiency
GLikely benign
SLC25A13
Deletion
(intron variant)
Citrin deficiency
GLikely pathogenic
SLC25A13
Single nucleotide variant
(splice donor variant)
Citrullinemia, type II, adult-onset
GLikely pathogenic
SLC25A13
(F611fs +1 more)
Deletion
(frameshift variant +1 more)
Citrin deficiency
GUncertain significance
SLC25A13
(I609fs +1 more)
Duplication
(frameshift variant +1 more)
Citrullinemia, type II, adult-onset
GLikely pathogenic
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
Citrin deficiency
+1 more
GConflicting classifications of pathogenicity
SLC25A13
(Y608C +1 more)
Single nucleotide variant
(missense variant +1 more)
Citrullinemia type II
GUncertain significance
SLC25A13
(W606C +1 more)
Single nucleotide variant
(missense variant +1 more)
Citrin deficiency
GUncertain significance
SLC25A13
(R605Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Citrin deficiency
+3 more
GUncertain significance
SLC25A13
(R605* +1 more)
Single nucleotide variant
(nonsense +1 more)
Citrullinemia, type II, adult-onset
+4 more
GPathogenic/Likely pathogenic
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
Citrin deficiency
GLikely benign
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
Citrin deficiency
GLikely benign
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
Citrin deficiency
GLikely benign
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
(Y600* +1 more)
Single nucleotide variant
(nonsense +1 more)
Citrullinemia, type II, adult-onset
GPathogenic
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
Citrin deficiency
+1 more
GConflicting classifications of pathogenicity
SLC25A13
(Y600* +1 more)
Duplication
(nonsense +1 more)
Neonatal intrahepatic cholestasis due to citrin deficiency
+2 more
GPathogenic
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
Citrin deficiency
GLikely benign
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
Citrin deficiency
+2 more
GConflicting classifications of pathogenicity
SLC25A13
(L599M +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
Citrin deficiency
GLikely benign
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
Citrin deficiency
GLikely benign
SLC25A13
(F593L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC25A13
Single nucleotide variant
(synonymous variant +1 more)
Citrin deficiency
GLikely benign
SLC25A13
(S590* +1 more)
Single nucleotide variant
(nonsense +1 more)
Citrin deficiency
+1 more
GPathogenic/Likely pathogenic
SLC25A13
(R588L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
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
(R589* +1 more)
Single nucleotide variant
(nonsense +1 more)
Citrin deficiency
+1 more
GPathogenic/Likely pathogenic
SLC25A13
(R585H +1 more)
Single nucleotide variant
(missense variant +1 more)
Citrin deficiency
+1 more
GUncertain significance
SLC25A13
Insertion
(intron variant)
Citrin deficiency
+1 more
GLikely benign
SLC25A13
Insertion
(intron variant)
Neonatal intrahepatic cholestasis due to citrin deficiency
GPathogenic
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