"SLC25A5-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3033090	NM_001152.5(SLC25A5):c.138T>C (p.Thr46=)	SLC25A5	Single nucleotide variant (synonymous variant)	SLC25A5-related disorder	GLikely benign
Select item 3033285	NM_001152.5(SLC25A5):c.156A>G (p.Lys52=)	SLC25A5	Single nucleotide variant (synonymous variant)	SLC25A5-related disorder	GLikely benign
Select item 3059021	NM_001152.5(SLC25A5):c.201T>C (p.Val67=)	SLC25A5	Single nucleotide variant (synonymous variant)	SLC25A5-related disorder	GLikely benign
Select item 3059878	NM_001152.5(SLC25A5):c.261T>C (p.Leu87=)	SLC25A5	Single nucleotide variant (synonymous variant)	SLC25A5-related disorder	GLikely benign
Select item 3060023	NM_001152.5(SLC25A5):c.306T>G (p.Gly102=)	SLC25A5	Single nucleotide variant (synonymous variant)	SLC25A5-related disorder	GLikely benign
Select item 3060501	NM_001152.5(SLC25A5):c.318A>G (p.Arg106=)	SLC25A5	Single nucleotide variant (synonymous variant)	SLC25A5-related disorder	GLikely benign
Select item 3059249	NM_001152.5(SLC25A5):c.357G>A (p.Ser119=)	SLC25A5	Single nucleotide variant (synonymous variant)	SLC25A5-related disorder	GBenign
Select item 3061010	NM_001152.5(SLC25A5):c.360T>C (p.Gly120=)	SLC25A5	Single nucleotide variant (synonymous variant)	SLC25A5-related disorder	GBenign
Select item 3059610	NM_001152.5(SLC25A5):c.361G>T (p.Gly121Cys)	SLC25A5 (G121C)	Single nucleotide variant (missense variant)	SLC25A5-related disorder	GBenign
Select item 3059491	NM_001152.5(SLC25A5):c.369A>T (p.Ala123=)	SLC25A5	Single nucleotide variant (synonymous variant)	SLC25A5-related disorder	GBenign
Select item 3059685	NM_001152.5(SLC25A5):c.663T>G (p.Thr221=)	SLC25A5	Single nucleotide variant (synonymous variant)	SLC25A5-related disorder	GLikely benign
Select item 3059056	NM_001152.5(SLC25A5):c.672C>T (p.Ala224=)	SLC25A5	Single nucleotide variant (synonymous variant)	SLC25A5-related disorder	GLikely benign
Select item 3060511	NM_001152.5(SLC25A5):c.675G>A (p.Gly225=)	SLC25A5	Single nucleotide variant (synonymous variant)	SLC25A5-related disorder	GLikely benign
Select item 3060062	NM_001152.5(SLC25A5):c.877G>T (p.Glu293Ter)	SLC25A5 (E293*)	Single nucleotide variant (nonsense)	SLC25A5-related disorder	GBenign
Select item 3058993	NM_001152.5(SLC25A5):c.888G>C (p.Lys296Asn)	SLC25A5 (K296N)	Single nucleotide variant (missense variant)	SLC25A5-related disorder	GBenign
Select item 3059755	NM_001152.5(SLC25A5):c.893C>T (p.Thr298Ile)	SLC25A5 (T298I)	Single nucleotide variant (missense variant)	SLC25A5-related disorder	GBenign
Select item 3060417	NM_001152.5(SLC25A5):c.*2T>G	SLC25A5	Single nucleotide variant (3 prime UTR variant)	SLC25A5-related disorder	GBenign