ClinVar for MedGen (Select 75704) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3731498	NM_003982.4(SLC7A7):c.1307T>G (p.Leu436Arg)	SLC7A7 (L436R)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 3724306	NM_003982.4(SLC7A7):c.237G>T (p.Gly79=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 3723331	NM_003982.4(SLC7A7):c.1419A>G (p.Arg473=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 3721646	NM_003982.4(SLC7A7):c.911T>C (p.Ile304Thr)	SLC7A7 (I304T)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 3718895	NM_003982.4(SLC7A7):c.999-3_999-2del	SLC7A7	Deletion (splice acceptor variant)	Lysinuric protein intolerance	GUncertain significance
Select item 3716393	NM_003982.4(SLC7A7):c.998+4A>G	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GUncertain significance
Select item 3706836	NM_003982.4(SLC7A7):c.1245+13C>T	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 3702375	NM_003982.4(SLC7A7):c.750dup (p.Glu251fs)	SLC7A7 (E251fs)	Duplication (frameshift variant)	Lysinuric protein intolerance	GPathogenic
Select item 3698843	NM_003982.4(SLC7A7):c.1245+20C>T	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 3691216	NM_003982.4(SLC7A7):c.1260C>T (p.Phe420=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GUncertain significance
Select item 3690246	NM_003982.4(SLC7A7):c.1341T>A (p.Ile447=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 3673540	NM_003982.4(SLC7A7):c.64G>A (p.Asp22Asn)	LOC130055323, SLC7A7 (D22N)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 3673218	NM_003982.4(SLC7A7):c.1326C>T (p.Asn442=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 3671209	NM_003982.4(SLC7A7):c.223_225del (p.Ile75del)	SLC7A7 (I75del)	Deletion	Lysinuric protein intolerance	GUncertain significance
Select item 3661828	NM_003982.4(SLC7A7):c.1154A>G (p.Tyr385Cys)	SLC7A7 (Y385C)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 3657886	NM_003982.4(SLC7A7):c.270del (p.Cys89_Tyr90insTer)	SLC7A7	Deletion (nonsense)	Lysinuric protein intolerance	GPathogenic
Select item 3657885	NM_003982.4(SLC7A7):c.1095+2T>C	SLC7A7	Single nucleotide variant (splice donor variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 3647715	NM_003982.4(SLC7A7):c.531C>G (p.Val177=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 3640976	NM_003982.4(SLC7A7):c.1262C>A (p.Pro421Gln)	SLC7A7 (P421Q)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 3632027	NM_003982.4(SLC7A7):c.635del (p.Thr212fs)	SLC7A7 (T212fs)	Deletion (frameshift variant)	Lysinuric protein intolerance	GPathogenic
Select item 3617379	NM_003982.4(SLC7A7):c.534del (p.Lys178fs)	SLC7A7 (K178fs)	Deletion (frameshift variant)	Lysinuric protein intolerance	GPathogenic
Select item 3611266	NM_003982.4(SLC7A7):c.312T>C (p.Tyr104=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GLikely benign
Select item 3605180	NM_003982.4(SLC7A7):c.771-19T>C	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GLikely benign
Select item 3576532	NM_003982.4(SLC7A7):c.-10C>T	LOC130055324, SLC7A7	Single nucleotide variant (5 prime UTR variant)	Lysinuric protein intolerance	GUncertain significance
Select item 3576531	NM_003982.4(SLC7A7):c.34C>T (p.Gln12Ter)	LOC130055324, SLC7A7 (Q12*)	Single nucleotide variant (nonsense)	Lysinuric protein intolerance	GLikely pathogenic
Select item 3576530	NM_003982.4(SLC7A7):c.49A>G (p.Thr17Ala)	SLC7A7 (T17A)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 3576529	NM_003982.4(SLC7A7):c.191T>A (p.Ile64Lys)	SLC7A7 (I64K)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 3576528	NM_003982.4(SLC7A7):c.255del (p.Phe85fs)	SLC7A7 (F85fs)	Deletion (frameshift variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 3576527	NM_003982.4(SLC7A7):c.283A>C (p.Thr95Pro)	SLC7A7 (T95P)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 3576526	NM_003982.4(SLC7A7):c.322del (p.Leu108fs)	SLC7A7 (L108fs)	Deletion (frameshift variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 3576525	NM_003982.4(SLC7A7):c.333T>G (p.Phe111Leu)	SLC7A7 (F111L)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 3576524	NM_003982.4(SLC7A7):c.407C>G (p.Ala136Gly)	SLC7A7 (A136G)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 3576523	NM_003982.4(SLC7A7):c.535T>C (p.Trp179Arg)	SLC7A7 (W179R)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 3576522	NM_003982.4(SLC7A7):c.542C>A (p.Thr181Asn)	SLC7A7 (T181N)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 3576520	NM_003982.4(SLC7A7):c.595dup (p.Ile199fs)	SLC7A7 (I199fs)	Duplication (frameshift variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 3576519	NM_003982.4(SLC7A7):c.656A>G (p.Glu219Gly)	SLC7A7 (E219G)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 3576518	NM_003982.4(SLC7A7):c.661T>A (p.Ser221Thr)	SLC7A7 (S221T)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 3576517	NM_003982.4(SLC7A7):c.662C>T (p.Ser221Leu)	SLC7A7 (S221L)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 3576516	NM_003982.4(SLC7A7):c.687_688insTTGGCA (p.Leu232_Tyr233insAlaLeu)	SLC7A7	Insertion	Lysinuric protein intolerance	GUncertain significance
Select item 3576515	NM_003982.4(SLC7A7):c.764C>T (p.Pro255Leu)	SLC7A7 (P255L)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 3576514	NM_003982.4(SLC7A7):c.806T>C (p.Ile269Thr)	SLC7A7 (I269T)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 3576513	NM_003982.4(SLC7A7):c.821A>G (p.Tyr274Cys)	SLC7A7 (Y274C)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 3576512	NM_003982.4(SLC7A7):c.895-1G>A	SLC7A7	Single nucleotide variant (splice acceptor variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 3576511	NM_003982.4(SLC7A7):c.953T>C (p.Leu318Ser)	SLC7A7 (L318S)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 3576510	NM_003982.4(SLC7A7):c.1039G>A (p.Ala347Thr)	SLC7A7 (A347T)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 3576509	NM_003982.4(SLC7A7):c.1048A>T (p.Met350Leu)	SLC7A7 (M350L)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 3576508	NM_003982.4(SLC7A7):c.1096-2_1097dup	SLC7A7	Duplication (splice acceptor variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 3576507	NM_003982.4(SLC7A7):c.1118T>C (p.Leu373Ser)	SLC7A7 (L373S)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 3576506	NM_003982.4(SLC7A7):c.1151A>C (p.Tyr384Ser)	SLC7A7 (Y384S)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 3576504	NM_003982.4(SLC7A7):c.1196del (p.Gly399fs)	SLC7A7 (G399fs)	Deletion (frameshift variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 3576503	NM_003982.4(SLC7A7):c.1273T>G (p.Cys425Gly)	SLC7A7 (C425G)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 3576502	NM_003982.4(SLC7A7):c.1280G>A (p.Cys427Tyr)	SLC7A7 (C427Y)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 3576501	NM_003982.4(SLC7A7):c.1293G>A (p.Leu431=)	SLC7A7	Single nucleotide variant (synonymous variant)	Lysinuric protein intolerance	GUncertain significance
Select item 3576500	NM_003982.4(SLC7A7):c.1308_1309dup (p.Tyr437fs)	SLC7A7 (Y437fs)	Duplication (frameshift variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 3576499	NM_003982.4(SLC7A7):c.1400_1405delinsTGCGAT (p.Lys467_Pro469delinsMetArgSer)	SLC7A7	Indel (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 3576498	NM_003982.4(SLC7A7):c.1430-10C>A	SLC7A7	Single nucleotide variant (intron variant)	Lysinuric protein intolerance	GUncertain significance
Select item 3576497	NM_003982.4(SLC7A7):c.1503_1505delinsTGC (p.Glu501_Met502delinsAspAla)	SLC7A7	Indel (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 3576496	NM_003982.4(SLC7A7):c.1526A>C (p.Lys509Thr)	SLC7A7 (K509T)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance	GUncertain significance
Select item 3576495	NM_003982.4(SLC7A7):c.1534T>C (p.Ter512Gln)	SLC7A7	Single nucleotide variant (stop lost)	Lysinuric protein intolerance	GUncertain significance
Select item 3393220	NM_003982.4(SLC7A7):c.647del (p.Asn216fs)	SLC7A7 (N216fs)	Deletion (frameshift variant)	Lysinuric protein intolerance	GLikely pathogenic
Select item 3383994	NM_003982.4(SLC7A7):c.499+1G>C	SLC7A7	Single nucleotide variant (splice donor variant)	Lysinuric protein intolerance	GLikely pathogenic
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 3251850	NM_003982.4(SLC7A7):c.235G>A (p.Gly79Arg)	SLC7A7 (G79R)	Single nucleotide variant (missense variant)	Lysinuric protein intolerance +1 more	GConflicting classifications of pathogenicity
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	GPathogenic/Likely 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/Likely pathogenic
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

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