"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "SLC25A15"[ - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 312169	NM_014252.3(SLC25A15):c.-273C>G	LOC130009616, SLC25A15	Single nucleotide variant	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome +1 more	GConflicting classifications of pathogenicity
Select item 312174	NM_014252.4(SLC25A15):c.-67A>T	SLC25A15	Single nucleotide variant (5 prime UTR variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome +1 more	GBenign/Likely benign
Select item 2643779	NM_014252.4(SLC25A15):c.98_101del (p.Met33fs)	SLC25A15 (M33fs)	Deletion (non-coding transcript variant +1 more)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome +1 more	GPathogenic
Select item 374465	NM_014252.4(SLC25A15):c.177C>A (p.Gly59=)	SLC25A15	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 807007	NM_014252.4(SLC25A15):c.181C>T (p.Arg61Cys)	SLC25A15 (R61C)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 203939	NM_014252.4(SLC25A15):c.182G>A (p.Arg61His)	SLC25A15 (R61H)	Single nucleotide variant (non-coding transcript variant +1 more)	SLC25A15-related condition +2 more	GConflicting classifications of pathogenicity
Select item 432095	NM_014252.4(SLC25A15):c.706A>G (p.Arg236Gly)	SLC25A15 (R236G)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1129140	NM_014252.4(SLC25A15):c.729T>G (p.Ser243=)	SLC25A15	Single nucleotide variant (synonymous variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome +1 more	GLikely benign
Select item 3024581	GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1	CCDC169-SOHLH2, CCDC70 +119 more	Copy number loss	not provided	GPathogenic