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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC25A15
(T32R)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GPathogenic
SLC25A15
(R179*)
Single nucleotide variant
(nonsense)
SLC25A15-related condition
+1 more
GPathogenic
SLC25A15
(F188del)
Microsatellite
(inframe_deletion)
SLC25A15-related condition
+2 more
GPathogenic
SLC25A15
(G190D)
Single nucleotide variant
(missense variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Gnot provided
SLC25A15
(G220R)
Single nucleotide variant
(missense variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GPathogenic/Likely pathogenic
SLC25A15
(R275*)
Single nucleotide variant
(nonsense)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GPathogenic/Likely pathogenic
SLC25A15
(R275Q)
Single nucleotide variant
(missense variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely pathogenic
SLC25A15
(L283F)
Single nucleotide variant
(missense variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Gnot provided
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