"PreventionGenetics, part of Exact Sciences"[submitter] AND "SLC25A1"[ - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 159909	NM_005984.5(SLC25A1):c.894T>C (p.Asp298=)	SLC25A1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 809316	NM_005984.5(SLC25A1):c.764A>G (p.Lys255Arg)	SLC25A1 (K255R +2 more)	Single nucleotide variant (missense variant +1 more)	SLC25A1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3049907	NM_005984.5(SLC25A1):c.748-11_748-10dup	SLC25A1	Duplication (intron variant)	SLC25A1-related disorder	GLikely benign
Select item 3029293	NM_005984.5(SLC25A1):c.747+21_747+31del	SLC25A1	Deletion (intron variant)	SLC25A1-related disorder	GUncertain significance
Select item 987435	NM_005984.5(SLC25A1):c.520G>T (p.Glu174Ter)	SLC25A1 (E174* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 378586	NM_005984.5(SLC25A1):c.95-102C>T	SLC25A1 (A5V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 3034371	NM_005984.5(SLC25A1):c.95-109C>T	SLC25A1 (P3S)	Single nucleotide variant (missense variant +1 more)	SLC25A1-related disorder	GBenign
Select item 1480841	NM_005984.5(SLC25A1):c.94+6C>T	SLC25A1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3032349	NM_005984.5(SLC25A1):c.25_26dup (p.Ala11fs)	SLC25A1 (A11fs)	Microsatellite (frameshift variant +1 more)	SLC25A1-related disorder	GLikely pathogenic
Select item 1336925	NM_005984.5(SLC25A1):c.19C>T (p.Pro7Ser)	SLC25A1 (P7S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance