"Fulgent Genetics, Fulgent Genetics"[submitter] AND "SLC7A7"[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1511803	NM_003982.4(SLC7A7):c.1520A>G (p.Asp507Gly)	SLC7A7 (D507G)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 1411295	NM_003982.4(SLC7A7):c.1468G>C (p.Val490Leu)	SLC7A7 (V490L)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 1024323	NM_003982.4(SLC7A7):c.1451A>G (p.Gln484Arg)	SLC7A7 (Q484R)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 785737	NM_003982.4(SLC7A7):c.1429+8G>A	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 883232	NM_003982.4(SLC7A7):c.1406C>T (p.Pro469Leu)	SLC7A7 (P469L)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 1026425	NM_003982.4(SLC7A7):c.1403G>A (p.Arg468Gln)	SLC7A7 (R468Q)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	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 579224	NM_003982.4(SLC7A7):c.1395del (p.Glu465fs)	SLC7A7 (E465fs)	Deletion (frameshift variant)	Lysinuric protein intolerance	GPathogenic/Likely pathogenic
Select item 859540	NM_003982.4(SLC7A7):c.1383_1384del (p.Ile461fs)	SLC7A7 (I461fs)	Deletion (frameshift variant)	Lysinuric protein intolerance	GPathogenic/Likely pathogenic
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 513964	NM_003982.4(SLC7A7):c.1362G>C (p.Leu454=)	SLC7A7	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 841358	NM_003982.4(SLC7A7):c.1349C>T (p.Ala450Val)	SLC7A7 (A450V)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 796378	NM_003982.4(SLC7A7):c.1245+10C>T	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GBenign/Likely benign
Select item 953573	NM_003982.4(SLC7A7):c.1244_1245insTTAC (p.Lys415fs)	SLC7A7 (K415fs)	Insertion (frameshift variant)	Lysinuric protein intolerance	GPathogenic/Likely pathogenic
Select item 858135	NM_003982.4(SLC7A7):c.1229G>A (p.Arg410Gln)	SLC7A7 (R410Q)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
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 580507	NM_003982.4(SLC7A7):c.1189A>G (p.Ile397Val)	SLC7A7 (I397V)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 56352	NM_003982.4(SLC7A7):c.1185_1188del (p.Ser396fs)	SLC7A7 (S396fs)	Deletion (frameshift variant)	Lysinuric protein intolerance	GPathogenic
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 56350	NM_003982.4(SLC7A7):c.1147_1151dup (p.Tyr384Ter)	SLC7A7 (Y384*)	Duplication (nonsense)	Lysinuric protein intolerance	GPathogenic/Likely pathogenic
Select item 880733	NM_003982.4(SLC7A7):c.1136T>G (p.Phe379Cys)	SLC7A7 (F379C)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 575188	NM_003982.4(SLC7A7):c.1123G>A (p.Val375Met)	SLC7A7 (V375M)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance +1 more	GUncertain significance
Select item 1552507	NM_003982.4(SLC7A7):c.1095+14A>G	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 56346	NM_001126105.2(SLC7A7):c.1005_1008del (p.Phe335Leufs)	SLC7A7 (F335fs)	Deletion (frameshift variant)	Lysinuric protein intolerance	GPathogenic/Likely pathogenic
Select item 965156	NM_003982.4(SLC7A7):c.1004T>C (p.Phe335Ser)	SLC7A7 (F335S)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 1645470	NM_003982.4(SLC7A7):c.999-16A>G	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
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 529502	NM_003982.4(SLC7A7):c.916G>C (p.Gly306Arg)	SLC7A7 (G306R)	Single nucleotide variant (missense variant)	SLC7A7-related disorder +1 more	GUncertain significance
Select item 853452	NM_003982.4(SLC7A7):c.896C>G (p.Thr299Ser)	SLC7A7 (T299S)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance +1 more	GUncertain significance
Select item 816701	NM_003982.4(SLC7A7):c.895-2A>T	SLC7A7	Single nucleotide variant (splice acceptor variant)	Lysinuric protein intolerance	GPathogenic
Select item 566917	NM_003982.4(SLC7A7):c.894+6G>A	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GUncertain significance
Select item 56380	NM_003982.4(SLC7A7):c.894+1G>T	SLC7A7	Single nucleotide variant (splice donor variant)	Lysinuric protein intolerance	GPathogenic/Likely pathogenic
Select item 741437	NM_003982.4(SLC7A7):c.882T>C (p.Asp294=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 512312	NM_003982.4(SLC7A7):c.862A>C (p.Arg288=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance +1 more	GLikely benign
Select item 850743	NM_003982.4(SLC7A7):c.860T>G (p.Met287Arg)	SLC7A7 (M287R)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 1451547	NM_003982.4(SLC7A7):c.770+1del	SLC7A7	Deletion (splice donor variant)	Lysinuric protein intolerance	GPathogenic/Likely pathogenic
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 1583813	NM_003982.4(SLC7A7):c.625+18T>C	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance +1 more	GLikely benign
Select item 529504	NM_003982.4(SLC7A7):c.625+10A>G	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
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 1091373	NM_003982.4(SLC7A7):c.591G>T (p.Ala197=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 1059139	NM_003982.4(SLC7A7):c.589G>A (p.Ala197Thr)	SLC7A7 (A197T)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance +1 more	GUncertain significance
Select item 1080909	NM_003982.4(SLC7A7):c.588C>T (p.Ile196=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 1416692	NM_003982.4(SLC7A7):c.554A>G (p.Asp185Gly)	SLC7A7 (D185G)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 56370	NM_003982.4(SLC7A7):c.545dup (p.Val183fs)	SLC7A7 (V183fs)	Duplication (frameshift variant)	Lysinuric protein intolerance	GPathogenic
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 1533112	NM_003982.4(SLC7A7):c.500-20C>G	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GBenign/Likely benign
Select item 1131847	NM_003982.4(SLC7A7):c.447G>A (p.Pro149=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 1131169	NM_003982.4(SLC7A7):c.390C>G (p.Thr130=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
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 883283	NM_003982.4(SLC7A7):c.352A>T (p.Ile118Phe)	SLC7A7 (I118F)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 582434	NM_003982.4(SLC7A7):c.313G>A (p.Ala105Thr)	SLC7A7 (A105T)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 514385	NM_003982.4(SLC7A7):c.273G>A (p.Ala91=)	SLC7A7	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1358695	NM_003982.4(SLC7A7):c.269A>G (p.Tyr90Cys)	SLC7A7 (Y90C)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
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 737479	NM_003982.4(SLC7A7):c.249C>T (p.Ser83=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 1303290	NM_003982.4(SLC7A7):c.242T>C (p.Leu81Pro)	SLC7A7 (L81P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 965649	NM_003982.4(SLC7A7):c.241C>T (p.Leu81Phe)	SLC7A7 (L81F)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance +1 more	GUncertain significance
Select item 999155	NM_003982.4(SLC7A7):c.126C>T (p.Gly42=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GUncertain significance
Select item 56348	NM_003982.4(SLC7A7):c.106_108del (p.Glu36del)	LOC130055323, SLC7A7 (E36del)	Deletion (inframe_deletion)	Lysinuric protein intolerance	GLikely pathogenic
Select item 1453292	NM_003982.4(SLC7A7):c.88C>T (p.Gln30Ter)	LOC130055323, SLC7A7 (Q30*)	Single nucleotide variant (nonsense)	Lysinuric protein intolerance	GPathogenic/Likely pathogenic

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Items: 63