"Genome-Nilou Lab"[submitter] AND "SLC7A7"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 139197	NM_003982.4(SLC7A7):c.1527A>G (p.Lys509=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance +2 more	GBenign
Select item 312809	NM_003982.4(SLC7A7):c.1494T>C (p.Asp498=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GConflicting classifications of pathogenicity
Select item 1180590	NM_003982.4(SLC7A7):c.1430-55T>C	SLC7A7	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 312810	NM_003982.4(SLC7A7):c.1405C>T (p.Pro469Ser)	SLC7A7 (P469S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 56359	NM_003982.4(SLC7A7):c.1402C>T (p.Arg468Ter)	SLC7A7 (R468*)	Single nucleotide variant (nonsense)	Lysinuric protein intolerance +1 more	GPathogenic/Likely pathogenic
Select item 312811	NM_003982.4(SLC7A7):c.1400A>T (p.Lys467Met)	SLC7A7 (K467M)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance +2 more	GUncertain significance
Select item 884027	NM_003982.4(SLC7A7):c.1315G>A (p.Asp439Asn)	SLC7A7 (D439N)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance +1 more	GUncertain significance
Select item 792522	NM_003982.4(SLC7A7):c.1263G>A (p.Pro421=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GConflicting classifications of pathogenicity
Select item 312814	NM_003982.4(SLC7A7):c.1170G>C (p.Trp390Cys)	SLC7A7 (W390C)	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 312816	NM_003982.4(SLC7A7):c.1119G>A (p.Leu373=)	SLC7A7	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1180591	NM_003982.4(SLC7A7):c.1095+111A>G	SLC7A7	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 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 312819	NM_003982.4(SLC7A7):c.954A>T (p.Leu318Phe)	SLC7A7 (L318F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 816701	NM_003982.4(SLC7A7):c.895-2A>T	SLC7A7	Single nucleotide variant (splice acceptor variant)	Lysinuric protein intolerance	GPathogenic
Select item 946032	NM_003982.4(SLC7A7):c.755T>A (p.Ile252Asn)	SLC7A7 (I252N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 56376	NM_003982.4(SLC7A7):c.713C>T (p.Ser238Phe)	SLC7A7 (S238F)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance +1 more	GPathogenic/Likely pathogenic
Select item 139196	NM_003982.4(SLC7A7):c.660T>C (p.Gly220=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance +2 more	GBenign
Select item 56374	NM_003982.4(SLC7A7):c.625+1G>A	SLC7A7	Single nucleotide variant (splice donor variant)	SLC7A7-related disorder +2 more	GPathogenic
Select item 312822	NM_003982.4(SLC7A7):c.595A>G (p.Ile199Val)	SLC7A7 (I199V)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 743975	NM_003982.4(SLC7A7):c.549A>C (p.Val183=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GConflicting classifications of pathogenicity
Select item 56370	NM_003982.4(SLC7A7):c.545dup (p.Val183fs)	SLC7A7 (V183fs)	Duplication (frameshift variant)	Lysinuric protein intolerance	GPathogenic
Select item 1177844	NM_003982.4(SLC7A7):c.500-32T>C	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance +2 more	GBenign
Select item 139199	NM_003982.4(SLC7A7):c.498T>C (p.Ile166=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance +2 more	GBenign
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 1033295	NM_003982.4(SLC7A7):c.377del (p.Ile126fs)	SLC7A7 (I126fs)	Deletion (frameshift variant)	Lysinuric protein intolerance +1 more	GPathogenic/Likely pathogenic
Select item 424554	NM_003982.4(SLC7A7):c.360_361delinsAA (p.Trp121Arg)	SLC7A7 (W121R)	Indel (missense variant)	Lysinuric protein intolerance +1 more	GUncertain significance
Select item 312825	NM_003982.4(SLC7A7):c.342C>T (p.Phe114=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GConflicting classifications of pathogenicity
Select item 312826	NM_003982.4(SLC7A7):c.339A>C (p.Gly113=)	SLC7A7	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 459994	NM_003982.4(SLC7A7):c.250G>A (p.Val84Ile)	SLC7A7 (V84I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 312827	NM_003982.4(SLC7A7):c.234C>T (p.Val78=)	SLC7A7	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 963259	NM_003982.4(SLC7A7):c.187C>T (p.Leu63Phe)	SLC7A7 (L63F)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 139198	NM_003982.4(SLC7A7):c.159G>A (p.Ser53=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance +2 more	GBenign
Select item 745339	NM_003982.4(SLC7A7):c.123C>T (p.Asn41=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GConflicting classifications of pathogenicity
Select item 203943	NM_003982.4(SLC7A7):c.96G>A (p.Lys32=)	LOC130055323, SLC7A7	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 312832	NM_003982.4(SLC7A7):c.-86T>C	SLC7A7	Single nucleotide variant (5 prime UTR variant)	Lysinuric protein intolerance +1 more	GBenign

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Items: 42