Related gene-specific medical variations for Gene (Select 10166) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244140	NC_000013.10:g.(?_41367363)_(41383803_?)del	SLC25A15	Deletion	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GPathogenic
Select item 3240485	NM_014252.4(SLC25A15):c.107del (p.Lys36fs)	SLC25A15 (K36fs)	Deletion (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely pathogenic
Select item 3240484	NM_014252.4(SLC25A15):c.623-1G>A	SLC25A15	Single nucleotide variant (splice acceptor variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GPathogenic
Select item 3240482	NM_014252.4(SLC25A15):c.782-2A>G	SLC25A15	Single nucleotide variant (splice acceptor variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely pathogenic
Select item 3064872	NM_014252.4(SLC25A15):c.355_376del (p.Phe119fs)	SLC25A15 (F119fs)	Deletion (frameshift variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GUncertain significance
Select item 2678860	NM_014252.4(SLC25A15):c.169C>T (p.Gln57Ter)	SLC25A15 (Q57*)	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely pathogenic
Select item 2678859	NM_014252.4(SLC25A15):c.265C>T (p.Gln89Ter)	SLC25A15 (Q89*)	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GPathogenic
Select item 2678858	NM_014252.4(SLC25A15):c.530T>A (p.Leu177Ter)	SLC25A15 (L177*)	Single nucleotide variant (nonsense)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely pathogenic
Select item 2678857	NM_014252.4(SLC25A15):c.331_335del (p.Ala111fs)	SLC25A15 (A111fs)	Deletion (frameshift variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely pathogenic
Select item 2678854	NM_014252.4(SLC25A15):c.315-2A>C	SLC25A15	Single nucleotide variant (splice acceptor variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely pathogenic
Select item 2678853	NM_014252.4(SLC25A15):c.452+1del	SLC25A15	Deletion (splice donor variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely pathogenic
Select item 2678852	NM_014252.4(SLC25A15):c.31_55del (p.Ile11fs)	SLC25A15 (I11fs)	Deletion (frameshift variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely pathogenic
Select item 2678851	NM_014252.4(SLC25A15):c.172del (p.Val58fs)	SLC25A15 (V58fs)	Deletion (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely pathogenic
Select item 2678850	NM_014252.4(SLC25A15):c.357del (p.Phe119fs)	SLC25A15 (F119fs)	Deletion (frameshift variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely pathogenic
Select item 2678848	NM_014252.4(SLC25A15):c.525dup (p.Thr176fs)	SLC25A15 (T176fs)	Duplication (frameshift variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GPathogenic
Select item 2678847	NM_014252.4(SLC25A15):c.429_430del (p.Gly144fs)	SLC25A15 (G144fs)	Deletion (frameshift variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely pathogenic
Select item 2678846	NM_014252.4(SLC25A15):c.95_96dup (p.Met33fs)	SLC25A15 (M33fs)	Microsatellite (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GPathogenic
Select item 2501791	NM_014252.4(SLC25A15):c.-69-41_55+58del	SLC25A15	Deletion (splice acceptor variant +2 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely pathogenic
Select item 996819	NM_014252.4(SLC25A15):c.392A>C (p.Lys131Thr)	SLC25A15 (K131T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 991409	NM_014252.4(SLC25A15):c.781+9A>G	SLC25A15	Single nucleotide variant (intron variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GUncertain significance
Select item 990748	NM_014252.4(SLC25A15):c.375C>T (p.Cys125=)	SLC25A15	Single nucleotide variant (synonymous variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GUncertain significance
Select item 990747	NM_014252.4(SLC25A15):c.364C>G (p.Leu122Val)	SLC25A15 (L122V)	Single nucleotide variant (missense variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GUncertain significance
Select item 990746	NM_014252.4(SLC25A15):c.292T>A (p.Leu98Met)	SLC25A15 (L98M)	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GUncertain significance
Select item 990745	NM_014252.4(SLC25A15):c.249G>A (p.Met83Ile)	SLC25A15 (M83I)	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GUncertain significance
Select item 973537	NM_014252.4(SLC25A15):c.44C>T (p.Ala15Val)	SLC25A15 (A15V)	Single nucleotide variant (missense variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely pathogenic
Select item 880664	NM_014252.4(SLC25A15):c.-120C>G	LOC130009616, SLC25A15	Single nucleotide variant (5 prime UTR variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GUncertain significance
Select item 312173	NM_014252.4(SLC25A15):c.-101C>G	LOC130009616, SLC25A15	Single nucleotide variant (5 prime UTR variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GUncertain significance
Select item 38404	NM_014252.4(SLC25A15):c.847C>T (p.Leu283Phe)	SLC25A15 (L283F)	Single nucleotide variant (missense variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Gnot provided
Select item 38400	NM_014252.4(SLC25A15):c.569G>A (p.Gly190Asp)	SLC25A15 (G190D)	Single nucleotide variant (missense variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	Gnot provided

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Items: 29