Related gene-specific medical variations for Gene (Select 9056) - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243962	NC_000014.8:g.(?_23247982)_(23249280_?)del	SLC7A7	Deletion	Lysinuric protein intolerance	GPathogenic
Select item 3243961	NC_000014.8:g.(?_23242819)_(23249280_?)del	SLC7A7	Deletion	Lysinuric protein intolerance	GPathogenic
Select item 3243960	NC_000014.8:g.(?_23249115)_(23249280_?)del	SLC7A7	Deletion	Lysinuric protein intolerance	GPathogenic
Select item 3240519	NM_003982.4(SLC7A7):c.1322_1325dup (p.Ser443fs)	SLC7A7 (S443fs)	Duplication (frameshift variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 3240518	NM_003982.4(SLC7A7):c.1095+2T>G	SLC7A7	Single nucleotide variant (splice donor variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 3240517	NM_003982.4(SLC7A7):c.1370dup (p.Tyr457Ter)	SLC7A7 (Y457*)	Duplication (nonsense)	Lysinuric protein intolerance	GLikely pathogenic
Select item 3065026	NM_003982.4(SLC7A7):c.305C>T (p.Ala102Val)	SLC7A7 (A102V)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 2987187	NM_003982.4(SLC7A7):c.30C>T (p.Ala10=)	LOC130055324, SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 2905873	NM_003982.4(SLC7A7):c.115C>T (p.Leu39=)	LOC130055323, SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 2901913	NM_003982.4(SLC7A7):c.2T>C (p.Met1Thr)	LOC130055324, SLC7A7 (M1T)	Single nucleotide variant (missense variant +1 more)	Lysinuric protein intolerance	GLikely pathogenic
Select item 2815035	NM_003982.4(SLC7A7):c.111C>T (p.Ile37=)	LOC130055323, SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 2811548	NM_003982.4(SLC7A7):c.27G>A (p.Val9=)	LOC130055324, SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 2749639	NM_003982.4(SLC7A7):c.81G>A (p.Gly27=)	LOC130055323, SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 2742438	NM_003982.4(SLC7A7):c.18G>A (p.Glu6=)	LOC130055324, SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 2706171	NM_003982.4(SLC7A7):c.21T>A (p.Tyr7Ter)	LOC130055324, SLC7A7 (Y7*)	Single nucleotide variant (nonsense)	Lysinuric protein intolerance	GPathogenic
Select item 2678994	NM_003982.4(SLC7A7):c.999-1G>C	SLC7A7	Single nucleotide variant (splice acceptor variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 2678993	NM_003982.4(SLC7A7):c.1381_1384del (p.Ile461fs)	SLC7A7 (I461fs)	Deletion (frameshift variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 2678992	NM_003982.4(SLC7A7):c.863_866del (p.Arg288fs)	SLC7A7 (R288fs)	Microsatellite (frameshift variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 2678991	NM_003982.4(SLC7A7):c.177del (p.Lys60fs)	SLC7A7 (K60fs)	Deletion (frameshift variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 2678990	NM_003982.4(SLC7A7):c.118_127del (p.Leu40fs)	SLC7A7 (L40fs)	Deletion (frameshift variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 2678989	NM_003982.4(SLC7A7):c.1371C>G (p.Tyr457Ter)	SLC7A7 (Y457*)	Single nucleotide variant (nonsense)	Lysinuric protein intolerance	GLikely pathogenic
Select item 2678988	NM_003982.4(SLC7A7):c.1013_1025del (p.Gly338fs)	SLC7A7 (G338fs)	Deletion (frameshift variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 2678987	NM_003982.4(SLC7A7):c.310_314del (p.Tyr104fs)	SLC7A7 (Y104fs)	Deletion (frameshift variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 2678985	NM_003982.4(SLC7A7):c.944del (p.Leu314_Ser315insTer)	SLC7A7	Deletion (nonsense)	Lysinuric protein intolerance	GLikely pathogenic
Select item 2678984	NM_003982.4(SLC7A7):c.928del (p.Trp310fs)	SLC7A7 (W310fs)	Deletion (frameshift variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 2678983	NM_003982.4(SLC7A7):c.446dup (p.Ser150fs)	SLC7A7 (S150fs)	Duplication (frameshift variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 2678982	NM_003982.4(SLC7A7):c.1461T>A (p.Cys487Ter)	SLC7A7 (C487*)	Single nucleotide variant (nonsense)	Lysinuric protein intolerance	GLikely pathogenic
Select item 2678981	NM_003982.4(SLC7A7):c.94A>T (p.Lys32Ter)	LOC130055323, SLC7A7 (K32*)	Single nucleotide variant (nonsense)	Lysinuric protein intolerance	GLikely pathogenic
Select item 2678980	NM_003982.4(SLC7A7):c.669del (p.Phe223fs)	SLC7A7 (F223fs)	Deletion (frameshift variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 2678979	NM_003982.4(SLC7A7):c.70del (p.Ala24fs)	LOC130055323, SLC7A7 (A24fs)	Deletion (frameshift variant)	Lysinuric protein intolerance	GPathogenic/Likely pathogenic
Select item 2678978	NM_003982.4(SLC7A7):c.626-2A>T	SLC7A7	Single nucleotide variant (splice acceptor variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 2678977	NM_003982.4(SLC7A7):c.1051_1057del (p.Ile351fs)	SLC7A7 (I351fs)	Deletion (frameshift variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 2678976	NM_003982.4(SLC7A7):c.819_822del (p.Tyr274fs)	SLC7A7 (Y274fs)	Deletion (frameshift variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 2678974	NM_003982.4(SLC7A7):c.1353_1366del (p.Ser452fs)	SLC7A7 (S452fs)	Deletion (frameshift variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 2678973	NM_003982.4(SLC7A7):c.1293_1308del (p.Val432fs)	SLC7A7 (V432fs)	Deletion (frameshift variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 2678972	NM_003982.4(SLC7A7):c.118_119insGTTA (p.Leu40fs)	SLC7A7 (L40fs)	Insertion (frameshift variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 2678971	NM_003982.4(SLC7A7):c.1169G>A (p.Trp390Ter)	SLC7A7 (W390*)	Single nucleotide variant (nonsense)	Lysinuric protein intolerance	GLikely pathogenic
Select item 2436073	NM_003982.4(SLC7A7):c.406G>A (p.Ala136Thr)	SLC7A7 (A136T)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 2417474	NM_003982.4(SLC7A7):c.63T>A (p.Gly21=)	SLC7A7, LOC130055323	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 2201811	NM_003982.4(SLC7A7):c.83C>T (p.Pro28Leu)	LOC130055323, SLC7A7 (P28L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2191935	NM_003982.4(SLC7A7):c.29C>T (p.Ala10Val)	LOC130055324, SLC7A7 (A10V)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 2155518	NM_003982.4(SLC7A7):c.1A>G (p.Met1Val)	LOC130055324, SLC7A7 (M1V)	Single nucleotide variant (missense variant +1 more)	Lysinuric protein intolerance	GLikely pathogenic
Select item 2141776	NM_003982.4(SLC7A7):c.98T>A (p.Leu33Gln)	LOC130055323, SLC7A7 (L33Q)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 1994997	NM_003982.4(SLC7A7):c.3G>A (p.Met1Ile)	LOC130055324, SLC7A7 (M1I)	Single nucleotide variant (missense variant +1 more)	Lysinuric protein intolerance	GPathogenic
Select item 1924991	NM_003982.4(SLC7A7):c.110dup (p.Ser38fs)	LOC130055323, SLC7A7 (S38fs)	Duplication (frameshift variant)	Lysinuric protein intolerance	GPathogenic
Select item 1660618	NM_003982.4(SLC7A7):c.105G>A (p.Lys35=)	LOC130055323, SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 1528300	NM_003982.4(SLC7A7):c.114A>G (p.Ser38=)	LOC130055323, SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 1500585	NM_003982.4(SLC7A7):c.16G>A (p.Glu6Lys)	LOC130055324, SLC7A7 (E6K)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
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
Select item 1348590	NM_003982.4(SLC7A7):c.98T>C (p.Leu33Pro)	LOC130055323, SLC7A7 (L33P)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 1105314	NM_003982.4(SLC7A7):c.99G>A (p.Leu33=)	LOC130055323, SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 1100960	NM_003982.4(SLC7A7):c.66T>C (p.Asp22=)	LOC130055323, SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 1079316	NM_003982.4(SLC7A7):c.84G>A (p.Pro28=)	LOC130055323, SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 1063893	NM_003982.4(SLC7A7):c.106G>A (p.Glu36Lys)	LOC130055323, SLC7A7 (E36K)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 1042775	NM_003982.4(SLC7A7):c.25G>A (p.Val9Met)	LOC130055324, SLC7A7 (V9M)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 991470	NM_003982.4(SLC7A7):c.1056T>C (p.His352=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GUncertain significance
Select item 991469	NM_003982.4(SLC7A7):c.1430-4G>A	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GUncertain significance
Select item 794533	NM_003982.4(SLC7A7):c.58T>C (p.Leu20=)	LOC130055323, SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 625743	GRCh37/hg19 14q11.2(chr14:23242388-23245542)	SLC7A7	Copy number loss	Lysinuric protein intolerance	GPathogenic
Select item 591551	NM_003982.4(SLC7A7):c.434A>G (p.Gln145Arg)	SLC7A7 (Q145R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591267	NM_003982.4(SLC7A7):c.1195G>A (p.Gly399Ser)	SLC7A7 (G399S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 581725	NM_003982.4(SLC7A7):c.91G>C (p.Val31Leu)	LOC130055323, SLC7A7 (V31L)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 390077	NM_001126105.3(SLC7A7):c.-162C>G	SLC7A7, LOC130055325	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 312828	NM_003982.4(SLC7A7):c.-18G>A	LOC130055324, SLC7A7	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GLikely benign
Select item 203943	NM_003982.4(SLC7A7):c.96G>A (p.Lys32=)	LOC130055323, SLC7A7	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +3 more	GBenign
Select item 56379	NM_003982.4(SLC7A7):c.820dup (p.Tyr274fs)	SLC7A7 (Y274fs)	Duplication (frameshift variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 56378	NM_003982.4(SLC7A7):c.782T>C (p.Leu261Pro)	SLC7A7 (L261P)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 56377	NM_003982.4(SLC7A7):c.753G>T (p.Glu251Asp)	SLC7A7 (E251D)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 56373	NM_003982.4(SLC7A7):c.622C>T (p.Gln208Ter)	SLC7A7 (Q208*)	Single nucleotide variant (nonsense)	Lysinuric protein intolerance	GPathogenic
Select item 56371	NM_003982.4(SLC7A7):c.563C>T (p.Thr188Ile)	SLC7A7 (T188I)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 56369	NM_003982.4(SLC7A7):c.499+1G>A	SLC7A7	Single nucleotide variant (splice donor variant)	Lysinuric protein intolerance	GPathogenic
Select item 56368	NM_003982.4(SLC7A7):c.454T>C (p.Phe152Leu)	SLC7A7 (F152L)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 56367	NM_003982.4(SLC7A7):c.418G>C (p.Ala140Pro)	SLC7A7 (A140P)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 56356	NM_003982.4(SLC7A7):c.1371C>A (p.Tyr457Ter)	SLC7A7 (Y457*)	Single nucleotide variant (nonsense)	Lysinuric protein intolerance	GLikely pathogenic
Select item 56355	NM_003982.4(SLC7A7):c.1344del (p.Ile449fs)	SLC7A7 (I449fs)	Deletion (frameshift variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 56353	NM_003982.4(SLC7A7):c.1262del (p.Pro421fs)	SLC7A7 (P421fs)	Deletion (frameshift variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 56351	NM_003982.4(SLC7A7):c.1158C>A (p.Ser386Arg)	SLC7A7 (S386R)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 56349	NM_003982.4(SLC7A7):c.1093A>T (p.Asn365Tyr)	SLC7A7 (N365Y)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GLikely pathogenic
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 56344	NM_001126105.2(SLC7A7):c.14C>T (p.Thr5Ile)	LOC130055324, SLC7A7 (T5I)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 6208	NM_003982.4(SLC7A7):c.1A>C (p.Met1Leu)	LOC130055324, SLC7A7 (M1L)	Single nucleotide variant (missense variant +1 more)	Lysinuric protein intolerance	GPathogenic
Select item 6206	NG_012851.2:g.(19502_21380)_(21922_54769)del	SLC7A7	Deletion	Lysinuric protein intolerance	GPathogenic

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Items: 82