ClinVar for Gene (Select 11136) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3798335	NM_014270.5(SLC7A9):c.1091T>C (p.Ile364Thr)	SLC7A9 (I364T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3798334	NM_014270.5(SLC7A9):c.704+3G>T	SLC7A9	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3780633	NM_014270.5(SLC7A9):c.505_508del (p.Ser169fs)	SLC7A9 (S169fs)	Deletion (frameshift variant)	Cystinuria	GLikely pathogenic
Select item 3722568	NM_014270.5(SLC7A9):c.1074+9A>G	SLC7A9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3718694	NM_014270.5(SLC7A9):c.977+4G>A	SLC7A9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3714996	NM_014270.5(SLC7A9):c.88-4C>T	SLC7A9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3713194	NM_014270.5(SLC7A9):c.354C>A (p.Ile118=)	SLC7A9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3703007	NM_014270.5(SLC7A9):c.413C>T (p.Ala138Val)	SLC7A9 (A138V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3694971	NM_014270.5(SLC7A9):c.978-12_978-10del	SLC7A9	Deletion (intron variant)	not provided	GUncertain significance
Select item 3685938	NM_014270.5(SLC7A9):c.1074+17C>T	SLC7A9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3677743	NM_014270.5(SLC7A9):c.636G>A (p.Glu212=)	SLC7A9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3670723	NM_014270.5(SLC7A9):c.231G>A (p.Thr77=)	SLC7A9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3670274	NM_014270.5(SLC7A9):c.1075-5A>G	SLC7A9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3664840	NM_014270.5(SLC7A9):c.1075-6T>C	SLC7A9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3662425	NM_014270.5(SLC7A9):c.513G>T (p.Arg171=)	SLC7A9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3660137	NM_014270.5(SLC7A9):c.743C>A (p.Pro248His)	SLC7A9 (P248H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3659593	NM_014270.5(SLC7A9):c.1196C>G (p.Thr399Arg)	SLC7A9 (T399R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3645016	NM_014270.5(SLC7A9):c.71C>A (p.Thr24Asn)	SLC7A9 (T24N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3640736	NM_014270.5(SLC7A9):c.870T>C (p.Ala290=)	SLC7A9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3637913	NM_014270.5(SLC7A9):c.913G>A (p.Val305Ile)	SLC7A9 (V305I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3635616	NM_014270.5(SLC7A9):c.210G>A (p.Ala70=)	SLC7A9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3633148	NM_014270.5(SLC7A9):c.479-15T>C	SLC7A9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3623446	NM_014270.5(SLC7A9):c.1000G>A (p.Glu334Lys)	SLC7A9 (E334K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3621659	NM_014270.5(SLC7A9):c.834G>A (p.Met278Ile)	SLC7A9 (M278I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3613254	NM_014270.5(SLC7A9):c.1065C>T (p.Ile355=)	SLC7A9	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3583629	NM_014270.5(SLC7A9):c.1A>G (p.Met1Val)	SLC7A9 (M1V)	Single nucleotide variant (missense variant +1 more)	Cystinuria	GLikely pathogenic
Select item 3583628	NM_014270.5(SLC7A9):c.43T>A (p.Ser15Thr)	SLC7A9 (S15T)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 3583627	NM_014270.5(SLC7A9):c.44C>G (p.Ser15Trp)	SLC7A9 (S15W)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 3583626	NM_014270.5(SLC7A9):c.48C>G (p.Ile16Met)	SLC7A9 (I16M)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 3583625	NM_014270.5(SLC7A9):c.120G>T (p.Val40=)	SLC7A9	Single nucleotide variant (synonymous variant)	Cystinuria	GUncertain significance
Select item 3583624	NM_014270.5(SLC7A9):c.148G>A (p.Val50Ile)	SLC7A9 (V50I)	Single nucleotide variant (missense variant)	Cystinuria +1 more	GUncertain significance
Select item 3583623	NM_014270.5(SLC7A9):c.163G>C (p.Val55Leu)	SLC7A9 (V55L)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 3583622	NM_014270.5(SLC7A9):c.184G>A (p.Val62Met)	SLC7A9 (V62M)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 3583621	NM_014270.5(SLC7A9):c.187G>C (p.Gly63Arg)	SLC7A9 (G63R)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 3583620	NM_014270.5(SLC7A9):c.204A>G (p.Ile68Met)	SLC7A9 (I68M)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 3583619	NM_014270.5(SLC7A9):c.221T>A (p.Val74Asp)	SLC7A9 (V74D)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 3583618	NM_014270.5(SLC7A9):c.229A>C (p.Thr77Pro)	SLC7A9 (T77P)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 3583617	NM_014270.5(SLC7A9):c.325_328del (p.Ala109fs)	SLC7A9 (A109fs)	Deletion (frameshift variant)	Cystinuria	GLikely pathogenic
Select item 3583616	NM_014270.5(SLC7A9):c.329A>G (p.Tyr110Cys)	SLC7A9 (Y110C)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 3583615	NM_014270.5(SLC7A9):c.400G>A (p.Glu134Lys)	SLC7A9 (E134K)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 3583614	NM_014270.5(SLC7A9):c.425_426inv (p.Val142Ala)	SLC7A9 (V142A)	Inversion (missense variant)	Cystinuria	GUncertain significance
Select item 3583613	NM_014270.5(SLC7A9):c.471del (p.Ala158fs)	SLC7A9 (A158fs)	Deletion (frameshift variant)	Cystinuria	GLikely pathogenic
Select item 3583612	NM_014270.5(SLC7A9):c.472G>A (p.Ala158Thr)	SLC7A9 (A158T)	Single nucleotide variant (missense variant)	Cystinuria +1 more	GUncertain significance
Select item 3583611	NM_014270.5(SLC7A9):c.478+1G>A	SLC7A9	Single nucleotide variant (splice donor variant)	Cystinuria	GLikely pathogenic
Select item 3583610	NM_014270.5(SLC7A9):c.478+6T>C	SLC7A9	Single nucleotide variant (intron variant)	Cystinuria	GUncertain significance
Select item 3583609	NM_014270.5(SLC7A9):c.479-1G>A	SLC7A9	Single nucleotide variant (splice acceptor variant)	Cystinuria	GLikely pathogenic
Select item 3583608	NM_014270.5(SLC7A9):c.482T>C (p.Phe161Ser)	SLC7A9 (F161S)	Single nucleotide variant (missense variant)	Cystinuria +1 more	GUncertain significance
Select item 3583606	NM_014270.5(SLC7A9):c.568_569delinsGC (p.Ile190Ala)	SLC7A9 (I190A)	Indel (missense variant)	Cystinuria	GUncertain significance
Select item 3583605	NM_014270.5(SLC7A9):c.569TCA[3] (p.Ile193del)	SLC7A9 (I193del)	Microsatellite	Cystinuria	GUncertain significance
Select item 3583604	NM_014270.5(SLC7A9):c.704+16A>G	SLC7A9	Single nucleotide variant (intron variant)	Cystinuria	GUncertain significance
Select item 3583603	NM_014270.5(SLC7A9):c.707A>C (p.Asn236Thr)	SLC7A9 (N236T)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 3583602	NM_014270.5(SLC7A9):c.715A>G (p.Asn239Asp)	SLC7A9 (N239D)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 3583601	NM_014270.5(SLC7A9):c.722T>C (p.Ile241Thr)	SLC7A9 (I241T)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 3583598	NM_014270.5(SLC7A9):c.750-6T>G	SLC7A9	Single nucleotide variant (intron variant)	Cystinuria	GUncertain significance
Select item 3583597	NM_014270.5(SLC7A9):c.784C>G (p.Leu262Val)	SLC7A9 (L262V)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 3583596	NM_014270.5(SLC7A9):c.794C>T (p.Ala265Val)	SLC7A9 (A265V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3583595	NM_014270.5(SLC7A9):c.802A>G (p.Ile268Val)	SLC7A9 (I268V)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 3583594	NM_014270.5(SLC7A9):c.872T>C (p.Val291Ala)	SLC7A9 (V291A)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 3583593	NM_014270.5(SLC7A9):c.892C>G (p.Leu298Val)	SLC7A9 (L298V)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 3583592	NM_014270.5(SLC7A9):c.958A>G (p.Thr320Ala)	SLC7A9 (T320A)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 3583591	NM_014270.5(SLC7A9):c.1017del (p.Val340fs)	SLC7A9 (V340fs)	Deletion (frameshift variant)	Cystinuria	GLikely pathogenic
Select item 3583590	NM_014270.5(SLC7A9):c.1028A>C (p.Tyr343Ser)	SLC7A9 (Y343S)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 3583589	NM_014270.5(SLC7A9):c.1032C>T (p.Ile344=)	SLC7A9	Single nucleotide variant (synonymous variant)	Cystinuria	GLikely pathogenic
Select item 3583588	NM_014270.5(SLC7A9):c.1036G>A (p.Val346Ile)	SLC7A9 (V346I)	Single nucleotide variant (missense variant)	Cystinuria +1 more	GUncertain significance
Select item 3583587	NM_014270.5(SLC7A9):c.1042C>T (p.Arg348Cys)	SLC7A9 (R348C)	Single nucleotide variant (missense variant)	Cystinuria +1 more	GUncertain significance
Select item 3583586	NM_014270.5(SLC7A9):c.1071_1072del (p.Phe357fs)	SLC7A9 (F357fs)	Deletion (frameshift variant)	Cystinuria	GLikely pathogenic
Select item 3583585	NM_014270.5(SLC7A9):c.1075-1G>A	SLC7A9	Single nucleotide variant (splice acceptor variant)	Cystinuria	GLikely pathogenic
Select item 3583584	NM_014270.5(SLC7A9):c.1087A>G (p.Thr363Ala)	SLC7A9 (T363A)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 3583583	NM_014270.5(SLC7A9):c.1088C>T (p.Thr363Met)	SLC7A9 (T363M)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 3583582	NM_014270.5(SLC7A9):c.1137del (p.Phe380fs)	SLC7A9 (F380fs)	Deletion (frameshift variant)	Cystinuria	GLikely pathogenic
Select item 3583581	NM_014270.5(SLC7A9):c.1196C>T (p.Thr399Ile)	SLC7A9 (T399I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3583580	NM_014270.5(SLC7A9):c.1225-1G>T	SLC7A9	Single nucleotide variant (splice acceptor variant)	Cystinuria	GLikely pathogenic
Select item 3583579	NM_014270.5(SLC7A9):c.1255C>G (p.Leu419Val)	SLC7A9 (L419V)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 3583578	NM_014270.5(SLC7A9):c.1286T>A (p.Ile429Asn)	SLC7A9 (I429N)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 3583577	NM_014270.5(SLC7A9):c.1306G>A (p.Glu436Lys)	SLC7A9 (E436K)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 3583576	NM_014270.5(SLC7A9):c.1370A>G (p.Tyr457Cys)	SLC7A9 (Y457C)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 3583575	NM_014270.5(SLC7A9):c.1411A>G (p.Met471Val)	SLC7A9 (M471V)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 3583574	NM_014270.5(SLC7A9):c.1429A>T (p.Met477Leu)	SLC7A9 (M477L)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 3445158	NM_014270.5(SLC7A9):c.1045C>T (p.Leu349Phe)	SLC7A9 (L349F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3445157	NM_014270.5(SLC7A9):c.171C>T (p.Ser57=)	SLC7A9	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3445156	NM_014270.5(SLC7A9):c.1243G>C (p.Val415Leu)	SLC7A9 (V415L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3391938	GRCh37/hg19 19q11-13.13(chr19:28271107-38637350)x1	ALKBH6, ANKRD27 +128 more	Copy number loss	not provided	GPathogenic
Select item 3390467	NM_014270.5(SLC7A9):c.1183G>A (p.Val395Met)	SLC7A9 (V395M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3385072	NM_014270.5(SLC7A9):c.340T>A (p.Trp114Arg)	SLC7A9 (W114R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3377378	NM_014270.5(SLC7A9):c.584G>A (p.Gly195Glu)	SLC7A9 (G195E)	Single nucleotide variant (missense variant)	Cystinuria	GPathogenic
Select item 3376792	NM_014270.5(SLC7A9):c.749G>A (p.Arg250Lys)	SLC7A9 (R250K)	Single nucleotide variant (missense variant)	Cystinuria	GLikely pathogenic
Select item 3359177	NM_014270.5(SLC7A9):c.785del (p.Leu262fs)	SLC7A9 (L262fs)	Deletion (frameshift variant)	Cystinuria	GPathogenic
Select item 3359176	NM_014270.5(SLC7A9):c.1399+2T>C	SLC7A9	Single nucleotide variant (splice donor variant)	Cystinuria	GPathogenic
Select item 3359175	NM_014270.5(SLC7A9):c.220dup (p.Val74fs)	SLC7A9 (V74fs)	Duplication (frameshift variant)	Cystinuria	GPathogenic
Select item 3359174	NM_014270.5(SLC7A9):c.409T>C (p.Cys137Arg)	SLC7A9 (C137R)	Single nucleotide variant (missense variant)	Cystinuria	GLikely pathogenic
Select item 3359173	NM_014270.5(SLC7A9):c.1399+1G>C	SLC7A9	Single nucleotide variant (splice donor variant)	Cystinuria	GPathogenic
Select item 3359172	NM_014270.5(SLC7A9):c.1340G>A (p.Gly447Asp)	SLC7A9 (G447D)	Single nucleotide variant (missense variant)	Cystinuria	GLikely pathogenic
Select item 3359171	NM_014270.5(SLC7A9):c.422A>C (p.Tyr141Ser)	SLC7A9 (Y141S)	Single nucleotide variant (missense variant)	Cystinuria	GLikely pathogenic
Select item 3359170	NM_014270.5(SLC7A9):c.998G>A (p.Arg333Gln)	SLC7A9 (R333Q)	Single nucleotide variant (missense variant)	Cystinuria	GLikely pathogenic
Select item 3359169	NM_014270.5(SLC7A9):c.1074+5G>A	SLC7A9	Single nucleotide variant (intron variant)	Cystinuria	GLikely pathogenic
Select item 3359168	NM_014270.5(SLC7A9):c.766A>G (p.Ile256Val)	SLC7A9 (I256V)	Single nucleotide variant (missense variant)	Cystinuria	GLikely pathogenic
Select item 3359167	NM_014270.5(SLC7A9):c.133G>C (p.Gly45Arg)	SLC7A9 (G45R)	Single nucleotide variant (missense variant)	Cystinuria	GLikely pathogenic
Select item 3359166	NM_014270.5(SLC7A9):c.227C>T (p.Ala76Val)	SLC7A9 (A76V)	Single nucleotide variant (missense variant)	Cystinuria	GLikely pathogenic
Select item 3359165	NM_014270.5(SLC7A9):c.74del (p.Ser25fs)	SLC7A9 (S25fs)	Deletion (frameshift variant)	Cystinuria	GPathogenic
Select item 3356590	NM_014270.5(SLC7A9):c.1283C>T (p.Pro428Leu)	SLC7A9 (P428L)	Single nucleotide variant (missense variant)	SLC7A9-related disorder	GUncertain significance

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