ClinVar for MedGen (Select 75704) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3255596	NM_003982.4(SLC7A7):c.1034C>G (p.Pro345Arg)	SLC7A7 (P345R)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GLikely pathogenic
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 3022376	NM_003982.4(SLC7A7):c.770+19_770+26del	SLC7A7	Deletion (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 3022315	NM_003982.4(SLC7A7):c.1332C>T (p.Leu444=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 3020016	NM_003982.4(SLC7A7):c.1095+20A>T	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 3016144	NM_003982.4(SLC7A7):c.1533C>T (p.Asn511=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 3016092	NM_003982.4(SLC7A7):c.708G>A (p.Leu236=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 3014738	NM_003982.4(SLC7A7):c.537G>A (p.Trp179Ter)	SLC7A7 (W179*)	Single nucleotide variant (nonsense)	Lysinuric protein intolerance	GPathogenic
Select item 3013143	NM_003982.4(SLC7A7):c.999-14C>G	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 3010805	NM_003982.4(SLC7A7):c.1288_1307delinsATCC (p.Phe430fs)	SLC7A7 (F430fs)	Indel (frameshift variant)	Lysinuric protein intolerance	GPathogenic
Select item 3005027	NM_003982.4(SLC7A7):c.1430-8C>A	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 3004938	NM_003982.4(SLC7A7):c.783C>T (p.Leu261=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 3002509	NM_003982.4(SLC7A7):c.771-11T>A	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 3002386	NM_003982.4(SLC7A7):c.626-8G>T	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 2988157	NM_003982.4(SLC7A7):c.998+10G>A	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
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 2986959	NM_003982.4(SLC7A7):c.411C>A (p.Ile137=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 2985388	NM_003982.4(SLC7A7):c.770+19dup	SLC7A7	Duplication (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 2979957	NM_003982.4(SLC7A7):c.1429+15C>A	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 2972390	NM_003982.4(SLC7A7):c.998+16T>C	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 2963951	NM_003982.4(SLC7A7):c.998+15T>A	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 2960262	NM_003982.4(SLC7A7):c.675G>A (p.Val225=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 2918469	NM_003982.4(SLC7A7):c.1341T>C (p.Ile447=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 2917930	NM_003982.4(SLC7A7):c.771-11T>C	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 2915428	NM_003982.4(SLC7A7):c.500-14T>C	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 2914625	NM_003982.4(SLC7A7):c.1429+15_1429+17del	SLC7A7	Deletion (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 2914600	NM_003982.4(SLC7A7):c.154G>A (p.Gly52Ser)	SLC7A7 (G52S)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 2914231	NM_003982.4(SLC7A7):c.504C>G (p.Leu168=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 2914119	NM_003982.4(SLC7A7):c.1096-17T>C	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 2913248	NM_003982.4(SLC7A7):c.1246-19_1246-18del	SLC7A7	Deletion (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 2912867	NM_003982.4(SLC7A7):c.999-19C>T	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 2912724	NM_003982.4(SLC7A7):c.500-18G>C	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 2912245	NM_003982.4(SLC7A7):c.770+16C>T	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 2909274	NM_003982.4(SLC7A7):c.625+9T>C	SLC7A7	Single nucleotide variant (intron 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 2903142	NM_003982.4(SLC7A7):c.366C>T (p.Thr122=)	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 2900064	NM_003982.4(SLC7A7):c.447G>C (p.Pro149=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 2899755	NM_003982.4(SLC7A7):c.1429+12A>C	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 2899382	NM_003982.4(SLC7A7):c.1206T>C (p.Tyr402=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 2898659	NM_003982.4(SLC7A7):c.1224T>G (p.Pro408=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 2897508	NM_003982.4(SLC7A7):c.168T>C (p.Phe56=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 2895692	NM_003982.4(SLC7A7):c.216T>C (p.Ser72=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 2894943	NM_003982.4(SLC7A7):c.613A>C (p.Arg205=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 2893382	NM_003982.4(SLC7A7):c.1096-14G>A	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 2890386	NM_003982.4(SLC7A7):c.1429+19A>G	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 2886233	NM_003982.4(SLC7A7):c.1429+1G>C	SLC7A7	Single nucleotide variant (splice donor variant)	Lysinuric protein intolerance	GPathogenic
Select item 2885617	NM_003982.4(SLC7A7):c.625+17G>A	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 2884426	NM_003982.4(SLC7A7):c.895-14T>C	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 2877972	NM_003982.4(SLC7A7):c.141G>C (p.Val47=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 2875414	NM_003982.4(SLC7A7):c.1095+15G>C	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 2875285	NM_003982.4(SLC7A7):c.895-20_895-19del	SLC7A7	Microsatellite (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 2867876	NM_003982.4(SLC7A7):c.1354_1355del (p.Ser452fs)	SLC7A7 (S452fs)	Microsatellite (frameshift variant)	Lysinuric protein intolerance	GPathogenic
Select item 2865960	NM_003982.4(SLC7A7):c.1200G>A (p.Gln400=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 2860731	NM_003982.4(SLC7A7):c.807T>C (p.Ile269=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 2860078	NM_003982.4(SLC7A7):c.616del (p.Gly207fs)	SLC7A7 (G207fs)	Deletion (frameshift variant)	Lysinuric protein intolerance	GPathogenic
Select item 2859021	NM_003982.4(SLC7A7):c.171T>G (p.Val57=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 2857776	NM_003982.4(SLC7A7):c.936T>A (p.Ile312=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 2850395	NM_003982.4(SLC7A7):c.435G>A (p.Gln145=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 2849235	NM_003982.4(SLC7A7):c.998+10G>T	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 2848517	NM_003982.4(SLC7A7):c.894+19C>T	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 2846912	NM_003982.4(SLC7A7):c.970_989del (p.Leu324fs)	SLC7A7 (L324fs)	Deletion (frameshift variant)	Lysinuric protein intolerance	GPathogenic
Select item 2842076	NM_003982.4(SLC7A7):c.369C>T (p.Ser123=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 2842010	NM_003982.4(SLC7A7):c.998+7G>C	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 2841491	NM_003982.4(SLC7A7):c.447G>T (p.Pro149=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 2840686	NM_003982.4(SLC7A7):c.625+7A>G	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 2838829	NM_003982.4(SLC7A7):c.285del (p.Thr96fs)	SLC7A7 (T96fs)	Deletion (frameshift variant)	Lysinuric protein intolerance	GPathogenic
Select item 2836627	NM_003982.4(SLC7A7):c.525C>T (p.Ala175=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 2831344	NM_003982.4(SLC7A7):c.1389G>A (p.Val463=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 2830738	NM_003982.4(SLC7A7):c.1429+11C>T	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 2826259	NM_003982.4(SLC7A7):c.1107A>G (p.Ala369=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 2826157	NM_003982.4(SLC7A7):c.888T>C (p.Val296=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
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 2810304	NM_003982.4(SLC7A7):c.816_822del (p.Ile273fs)	SLC7A7 (I273fs)	Deletion (frameshift variant)	Lysinuric protein intolerance	GPathogenic
Select item 2809099	NM_003982.4(SLC7A7):c.285C>T (p.Thr95=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 2804914	NM_003982.4(SLC7A7):c.993T>C (p.Ala331=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 2801967	NM_003982.4(SLC7A7):c.770+16C>A	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 2798438	NM_003982.4(SLC7A7):c.998+13A>T	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 2797701	NM_003982.4(SLC7A7):c.984T>A (p.Ile328=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 2797464	NM_003982.4(SLC7A7):c.940C>T (p.Leu314=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 2788425	NM_003982.4(SLC7A7):c.756C>T (p.Ile252=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 2783180	NM_003982.4(SLC7A7):c.626-18A>C	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 2781859	NM_003982.4(SLC7A7):c.543C>T (p.Thr181=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 2776764	NM_003982.4(SLC7A7):c.543C>A (p.Thr181=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 2773181	NM_003982.4(SLC7A7):c.1086G>C (p.Leu362=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 2770013	NM_003982.4(SLC7A7):c.963T>C (p.Phe321=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 2769331	NM_003982.4(SLC7A7):c.499+2T>G	SLC7A7	Single nucleotide variant (splice donor variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 2768122	NM_003982.4(SLC7A7):c.625+9del	SLC7A7	Deletion (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 2767916	NM_003982.4(SLC7A7):c.771-10T>C	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 2763477	NM_003982.4(SLC7A7):c.1311C>T (p.Tyr437=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 2762596	NM_003982.4(SLC7A7):c.1089C>G (p.Leu363=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 2761234	NM_003982.4(SLC7A7):c.1323C>T (p.Ile441=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 2759320	NM_003982.4(SLC7A7):c.1095+13A>T	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign

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