"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 882078	NM_003982.4(SLC7A7):c.*272C>T	SLC7A7	Single nucleotide variant (3 prime UTR variant)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 312812	NM_003982.4(SLC7A7):c.1380C>G (p.Ile460Met)	SLC7A7 (I460M)	Single nucleotide variant (missense variant)	not specified +3 more	GLikely benign
Select item 969815	NM_003982.4(SLC7A7):c.1211G>A (p.Arg404His)	SLC7A7 (R404H)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance +1 more	GUncertain significance
Select item 312815	NM_003982.4(SLC7A7):c.1128A>C (p.Glu376Asp)	SLC7A7 (E376D)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 312817	NM_003982.4(SLC7A7):c.1095+6T>C	SLC7A7	Single nucleotide variant (intron variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 312818	NM_003982.4(SLC7A7):c.1064G>A (p.Arg355Gln)	SLC7A7 (R355Q)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 426739	NM_003982.4(SLC7A7):c.999G>A (p.Arg333=)	SLC7A7	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 312820	NM_003982.4(SLC7A7):c.931A>G (p.Ile311Val)	SLC7A7 (I311V)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 6214	NM_003982.4(SLC7A7):c.726G>A (p.Trp242Ter)	SLC7A7 (W242*)	Single nucleotide variant (nonsense)	Autoinflammatory syndrome +1 more	GPathogenic
Select item 312821	NM_003982.4(SLC7A7):c.720A>C (p.Ser240=)	SLC7A7	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 882137	NM_003982.4(SLC7A7):c.591G>A (p.Ala197=)	SLC7A7	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 728884	NM_003982.4(SLC7A7):c.543C>G (p.Thr181=)	SLC7A7	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +1 more	GLikely benign
Select item 203944	NM_003982.4(SLC7A7):c.475C>T (p.Arg159Cys)	SLC7A7 (R159C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 312824	NM_003982.4(SLC7A7):c.456C>T (p.Phe152=)	SLC7A7	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +3 more	GBenign
Select item 380186	NM_003982.4(SLC7A7):c.272C>T (p.Ala91Val)	SLC7A7 (A91V)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance +3 more	GBenign
Select item 1694165	NM_003982.4(SLC7A7):c.179A>G (p.Lys60Arg)	SLC7A7 (K60R)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 203943	NM_003982.4(SLC7A7):c.96G>A (p.Lys32=)	LOC130055323, SLC7A7	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign