"Baylor Genetics"[submitter] AND "SLC25A15"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 489127	NM_014252.4(SLC25A15):c.22C>T (p.Gln8Ter)	SLC25A15 (Q8*)	Single nucleotide variant (nonsense)	Hereditary breast ovarian cancer syndrome +3 more	GPathogenic
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 5995	NM_014252.4(SLC25A15):c.79G>A (p.Gly27Arg)	SLC25A15 (G27R)	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GPathogenic
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 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 950666	NM_014252.4(SLC25A15):c.113_116dup (p.Phe40fs)	SLC25A15 (F40fs)	Duplication (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GPathogenic
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 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 5998	NM_014252.4(SLC25A15):c.212T>A (p.Leu71Gln)	SLC25A15 (L71Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely pathogenic
Select item 1393388	NM_014252.4(SLC25A15):c.236C>G (p.Ser79Ter)	SLC25A15 (S79*)	Single nucleotide variant (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GPathogenic/Likely 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 2678854	NM_014252.4(SLC25A15):c.315-2A>C	SLC25A15	Single nucleotide variant (splice acceptor variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely pathogenic
Select item 1976744	NM_014252.4(SLC25A15):c.326del (p.Asn109fs)	SLC25A15 (N109fs)	Deletion (frameshift variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GPathogenic/Likely 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 883225	NM_014252.4(SLC25A15):c.337G>A (p.Gly113Ser)	SLC25A15 (G113S)	Single nucleotide variant (missense variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome +2 more	GPathogenic/Likely pathogenic
Select item 38397	NM_014252.4(SLC25A15):c.337G>T (p.Gly113Cys)	SLC25A15 (G113C)	Single nucleotide variant (missense variant)	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 851641	NM_014252.4(SLC25A15):c.408del (p.Met137fs)	SLC25A15 (M137fs)	Deletion (frameshift variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GPathogenic/Likely pathogenic
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 2678853	NM_014252.4(SLC25A15):c.452+1del	SLC25A15	Deletion (splice donor variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely pathogenic
Select item 863850	NM_014252.4(SLC25A15):c.452+2T>C	SLC25A15	Single nucleotide variant (splice donor variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely pathogenic
Select item 1073730	NM_014252.4(SLC25A15):c.498del (p.Leu167fs)	SLC25A15 (L167fs)	Deletion (frameshift variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GPathogenic/Likely pathogenic
Select item 656435	NM_014252.4(SLC25A15):c.514G>T (p.Gly172Ter)	SLC25A15 (G172*)	Single nucleotide variant (nonsense)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GPathogenic/Likely pathogenic
Select item 2678848	NM_014252.4(SLC25A15):c.525dup (p.Thr176fs)	SLC25A15 (T176fs)	Duplication (frameshift variant)	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 5994	NM_014252.4(SLC25A15):c.535C>T (p.Arg179Ter)	SLC25A15 (R179*)	Single nucleotide variant (nonsense)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome +1 more	GPathogenic
Select item 5993	NM_014252.4(SLC25A15):c.538G>A (p.Glu180Lys)	SLC25A15 (E180K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 5992	NM_014252.4(SLC25A15):c.553TTC[3] (p.Phe188del)	SLC25A15 (F188del)	Microsatellite (inframe_deletion)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome +1 more	GPathogenic
Select item 38399	NM_014252.4(SLC25A15):c.564C>G (p.Phe188Leu)	SLC25A15 (F188L)	Single nucleotide variant (missense variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GPathogenic/Likely pathogenic
Select item 1067190	NM_014252.4(SLC25A15):c.622+1G>A	SLC25A15	Single nucleotide variant (splice donor variant)	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 432095	NM_014252.4(SLC25A15):c.706A>G (p.Arg236Gly)	SLC25A15 (R236G)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1030314	NM_014252.4(SLC25A15):c.731G>T (p.Gly244Val)	SLC25A15 (G244V)	Single nucleotide variant (missense variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GUncertain significance
Select item 2838501	NM_014252.4(SLC25A15):c.755_756insA (p.Phe253fs)	SLC25A15 (F253fs)	Insertion (frameshift variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GPathogenic/Likely pathogenic
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 5999	NM_014252.4(SLC25A15):c.815C>T (p.Thr272Ile)	SLC25A15 (T272I)	Single nucleotide variant (missense variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GPathogenic/Likely pathogenic
Select item 38403	NM_014252.4(SLC25A15):c.823C>T (p.Arg275Ter)	SLC25A15 (R275*)	Single nucleotide variant (nonsense)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GPathogenic/Likely pathogenic
Select item 5996	NM_014252.4(SLC25A15):c.824G>A (p.Arg275Gln)	SLC25A15 (R275Q)	Single nucleotide variant (missense variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GLikely pathogenic

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Items: 38