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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC25A15
(T127M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SLC25A15
(R133W)
Single nucleotide variant
(missense variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
(F188del)
Microsatellite
(inframe_deletion)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
+1 more
GPathogenic
SLC25A15
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
SLC25A15
(G220R)
Single nucleotide variant
(missense variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GPathogenic/Likely pathogenic
SLC25A15
(A226V)
Single nucleotide variant
(missense variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
(R275*)
Single nucleotide variant
(nonsense)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GPathogenic/Likely pathogenic
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