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Items: 1 to 100 of 353

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC25A15
Single nucleotide variant
(non-coding transcript variant +1 more)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely pathogenic
SLC25A15
Single nucleotide variant
(synonymous variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
Single nucleotide variant
(non-coding transcript variant +1 more)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
Single nucleotide variant
(intron variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
Single nucleotide variant
(intron variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
Single nucleotide variant
(non-coding transcript variant +1 more)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
(Q38*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GPathogenic
SLC25A15
Single nucleotide variant
(intron variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
Single nucleotide variant
(non-coding transcript variant +1 more)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
Single nucleotide variant
(synonymous variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
Deletion
(intron variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GBenign
SLC25A15
Single nucleotide variant
(intron variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
Single nucleotide variant
(synonymous variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
Insertion
(intron variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
(W224fs)
Deletion
(frameshift variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GPathogenic
SLC25A15
Single nucleotide variant
(non-coding transcript variant +1 more)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
(A199fs)
Duplication
(frameshift variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GPathogenic
SLC25A15
Single nucleotide variant
(synonymous variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
Single nucleotide variant
(synonymous variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
Single nucleotide variant
(intron variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
(Q57*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely pathogenic
SLC25A15
(Q89*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GPathogenic
SLC25A15
(L177*)
Single nucleotide variant
(nonsense)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely pathogenic
SLC25A15
(A111fs)
Deletion
(frameshift variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely pathogenic
SLC25A15
Single nucleotide variant
(splice acceptor variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely pathogenic
SLC25A15
Deletion
(splice donor variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely pathogenic
SLC25A15
(I11fs)
Deletion
(frameshift variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely pathogenic
SLC25A15
(V58fs)
Deletion
(non-coding transcript variant +1 more)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely pathogenic
SLC25A15
(F119fs)
Deletion
(frameshift variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely pathogenic
SLC25A15
(T176fs)
Duplication
(frameshift variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GPathogenic
SLC25A15
(G144fs)
Deletion
(frameshift variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely pathogenic
SLC25A15
(M33fs)
Microsatellite
(non-coding transcript variant +1 more)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GPathogenic
SLC25A15
(K131fs)
Deletion
(frameshift variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely pathogenic
SLC25A15
Deletion
(splice acceptor variant +2 more)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely pathogenic
SLC25A15
(R195Q)
Single nucleotide variant
(missense variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
+1 more
GUncertain significance
SLC25A15
Deletion
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GPathogenic
SLC25A15
Duplication
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
(A6P)
Single nucleotide variant
(missense variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Deletion
(intron variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
Deletion
(intron variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
(N4S)
Single nucleotide variant
(missense variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(non-coding transcript variant +1 more)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
(K148M)
Single nucleotide variant
(missense variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(synonymous variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
(P211S)
Single nucleotide variant
(missense variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
(H171R)
Single nucleotide variant
(missense variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Deletion
(non-coding transcript variant +1 more)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GBenign
SLC25A15
Single nucleotide variant
(splice donor variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
+1 more
GPathogenic/Likely pathogenic
SLC25A15
Single nucleotide variant
(non-coding transcript variant +1 more)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
Single nucleotide variant
(synonymous variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
(Q135*)
Single nucleotide variant
(nonsense)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GPathogenic
SLC25A15
Single nucleotide variant
(non-coding transcript variant +1 more)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
Single nucleotide variant
(non-coding transcript variant +1 more)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
Single nucleotide variant
(synonymous variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
(V24I)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
(V58M)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
(Y289C)
Single nucleotide variant
(missense variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
(T32I)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
(S267C)
Single nucleotide variant
(missense variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(intron variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
(V239I)
Single nucleotide variant
(missense variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(synonymous variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
(K131Q)
Single nucleotide variant
(missense variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Deletion
(splice donor variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GPathogenic
SLC25A15
Single nucleotide variant
(intron variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
Single nucleotide variant
(non-coding transcript variant +1 more)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
Single nucleotide variant
(intron variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
Single nucleotide variant
(non-coding transcript variant +1 more)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
Single nucleotide variant
(synonymous variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
Single nucleotide variant
(synonymous variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
(A96S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(synonymous variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
Single nucleotide variant
(non-coding transcript variant +1 more)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
(F185S)
Single nucleotide variant
(missense variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(synonymous variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
Single nucleotide variant
(non-coding transcript variant +1 more)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
(A73S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Deletion
(non-coding transcript variant +1 more)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GPathogenic
SLC25A15
(N109fs)
Deletion
(frameshift variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GPathogenic/Likely pathogenic
SLC25A15
Single nucleotide variant
(synonymous variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
(G19A)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
(M83T)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
(Y64F)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GUncertain significance
SLC25A15
Single nucleotide variant
(non-coding transcript variant +1 more)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
Single nucleotide variant
(synonymous variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
Single nucleotide variant
(non-coding transcript variant +1 more)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
(E288fs)
Duplication
(frameshift variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GPathogenic
SLC25A15
(I254L)
Single nucleotide variant
(missense variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
Single nucleotide variant
(non-coding transcript variant +1 more)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
Single nucleotide variant
(synonymous variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
Single nucleotide variant
(synonymous variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
Single nucleotide variant
(synonymous variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
Single nucleotide variant
(non-coding transcript variant +1 more)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
Single nucleotide variant
(non-coding transcript variant +1 more)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
Single nucleotide variant
(non-coding transcript variant +1 more)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
Single nucleotide variant
(intron variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
Single nucleotide variant
(intron variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
Single nucleotide variant
(non-coding transcript variant +1 more)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
Single nucleotide variant
(intron variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
SLC25A15
Single nucleotide variant
(synonymous variant)
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
GLikely benign
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