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Items: 1 to 100 of 102

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130009616, SLC25A15
Single nucleotide variant
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
LOC130009616, SLC25A15
Single nucleotide variant
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
LOC130009616, SLC25A15
Single nucleotide variant
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
+1 more
GBenign
LOC130009616, SLC25A15
Single nucleotide variant
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
+1 more
GConflicting classifications of pathogenicity
LOC130009616, SLC25A15
Single nucleotide variant
not provided
+1 more
GBenign/Likely benign
LOC130009616, SLC25A15
Single nucleotide variant
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
LOC130009616, SLC25A15
Single nucleotide variant
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
LOC130009616, SLC25A15
Single nucleotide variant
(5 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
LOC130009616, SLC25A15
Single nucleotide variant
(5 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(5 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
+1 more
GBenign/Likely benign
SLC25A15
Single nucleotide variant
(5 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(synonymous variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GConflicting classifications of pathogenicity
SLC25A15
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+1 more
GBenign
SLC25A15
(R45W)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
(D49E)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GConflicting classifications of pathogenicity
SLC25A15
(R61H)
Single nucleotide variant
(non-coding transcript variant +1 more)
SLC25A15-related condition
+2 more
GConflicting classifications of pathogenicity
SLC25A15
Single nucleotide variant
(non-coding transcript variant +1 more)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GConflicting classifications of pathogenicity
SLC25A15
Single nucleotide variant
(non-coding transcript variant +1 more)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
+1 more
GConflicting classifications of pathogenicity
SLC25A15
Single nucleotide variant
(non-coding transcript variant +1 more)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GConflicting classifications of pathogenicity
SLC25A15
(R93W)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
SLC25A15
(R93Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GConflicting classifications of pathogenicity
SLC25A15
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
SLC25A15
(A112T)
Single nucleotide variant
(missense variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
(G113S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SLC25A15
(F115V)
Single nucleotide variant
(missense variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(synonymous variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GConflicting classifications of pathogenicity
SLC25A15
(A116T)
Single nucleotide variant
(missense variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
(T127M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SLC25A15
(M137I)
Single nucleotide variant
(missense variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(synonymous variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(synonymous variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
+1 more
GConflicting classifications of pathogenicity
SLC25A15
(G189S)
Single nucleotide variant
(missense variant)
SLC25A15-related condition
+3 more
GConflicting classifications of pathogenicity
SLC25A15
(P211L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SLC25A15
Single nucleotide variant
(synonymous variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
(R236G)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SLC25A15
(I254L)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GBenign
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GBenign
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GBenign
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GBenign
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GBenign
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GBenign
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GBenign
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GBenign
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GBenign
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GBenign
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GBenign
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GBenign
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Microsatellite
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GBenign
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GBenign
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GBenign
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GBenign
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(3 prime UTR variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
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