ClinVar for MedGen (Select 8226) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068403	NM_000341.4(SLC3A1):c.899del (p.Leu300fs)	SLC3A1 (L300fs)	Deletion (frameshift variant)	Cystinuria	GLikely pathogenic
Select item 3067966	NM_000341.4(SLC3A1):c.650G>C (p.Ser217Thr)	SLC3A1 (S217T)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 3065183	NM_000341.4:c.766-391_1618-2069del	SLC3A1	Deletion	Cystinuria	GUncertain significance
Select item 3014636	NM_000341.4(SLC3A1):c.789T>C (p.Ser263=)	SLC3A1	Single nucleotide variant (synonymous variant)	Cystinuria	GLikely benign
Select item 3005575	NM_000341.4(SLC3A1):c.360G>A (p.Glu120=)	SLC3A1	Single nucleotide variant (synonymous variant)	Cystinuria	GLikely benign
Select item 2994262	NM_000341.4(SLC3A1):c.1394T>C (p.Met465Thr)	SLC3A1 (M465T)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2987896	NM_000341.4(SLC3A1):c.725G>C (p.Cys242Ser)	SLC3A1 (C242S)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2920210	NM_000341.4(SLC3A1):c.610+14A>G	SLC3A1	Single nucleotide variant (intron variant)	Cystinuria	GLikely benign
Select item 2915329	NM_000341.4(SLC3A1):c.1618-5A>T	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant +1 more)	Cystinuria	GLikely benign
Select item 2904920	NM_000341.4(SLC3A1):c.1756C>T (p.Leu586=)	PREPL, SLC3A1	Single nucleotide variant (synonymous variant +1 more)	SLC3A1-related condition +1 more	GLikely benign
Select item 2903056	NM_000341.4(SLC3A1):c.1258T>C (p.Ser420Pro)	SLC3A1 (S420P)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2891724	NM_000341.4(SLC3A1):c.1012-17C>T	SLC3A1	Single nucleotide variant (intron variant)	Cystinuria	GLikely benign
Select item 2870701	NM_000341.4(SLC3A1):c.1365G>T (p.Ser455=)	SLC3A1	Single nucleotide variant (synonymous variant)	Cystinuria	GLikely benign
Select item 2855712	NM_000341.4(SLC3A1):c.620T>G (p.Leu207Ter)	SLC3A1 (L207*)	Single nucleotide variant (nonsense)	Cystinuria	GPathogenic
Select item 2825494	NM_000341.4(SLC3A1):c.327C>G (p.Ala109=)	SLC3A1	Single nucleotide variant (synonymous variant)	Cystinuria	GLikely benign
Select item 2824190	NM_000341.4(SLC3A1):c.1594G>C (p.Asp532His)	SLC3A1 (D532H)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2814665	NM_000341.4(SLC3A1):c.368T>C (p.Met123Thr)	SLC3A1 (M123T)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2814488	NM_000341.4(SLC3A1):c.766-4C>G	SLC3A1	Single nucleotide variant (intron variant)	Cystinuria	GLikely benign
Select item 2792885	NM_000341.4(SLC3A1):c.1136+9C>A	SLC3A1	Single nucleotide variant (intron variant)	Cystinuria	GLikely benign
Select item 2791092	NM_000341.4(SLC3A1):c.1374G>C (p.Gly458=)	SLC3A1	Single nucleotide variant (synonymous variant)	Cystinuria	GLikely benign
Select item 2783270	NM_000341.4(SLC3A1):c.1506C>T (p.Thr502=)	SLC3A1	Single nucleotide variant (synonymous variant)	Cystinuria	GLikely benign
Select item 2782902	NM_000341.4(SLC3A1):c.1523C>A (p.Pro508Gln)	SLC3A1 (P508Q)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2755673	NM_000341.4(SLC3A1):c.774_775del (p.Tyr259fs)	SLC3A1 (Y259fs)	Microsatellite (frameshift variant)	Cystinuria	GPathogenic
Select item 2744823	NM_000341.4(SLC3A1):c.2022T>C (p.Tyr674=)	PREPL, SLC3A1	Single nucleotide variant (synonymous variant +1 more)	Cystinuria	GLikely benign
Select item 2736060	NM_000341.4(SLC3A1):c.141C>T (p.Ser47=)	SLC3A1	Single nucleotide variant (synonymous variant)	Cystinuria	GLikely benign
Select item 2734181	NM_000341.4(SLC3A1):c.1975C>T (p.Gln659Ter)	PREPL, SLC3A1 (Q659*)	Single nucleotide variant (nonsense +1 more)	Cystinuria	GPathogenic
Select item 2734180	NM_000341.4(SLC3A1):c.1945G>A (p.Glu649Lys)	PREPL, SLC3A1 (E649K)	Single nucleotide variant (missense variant +1 more)	Cystinuria	GUncertain significance
Select item 2734179	NM_000341.4(SLC3A1):c.1812_1813del (p.Leu605fs)	PREPL, SLC3A1 (L605fs)	Deletion (frameshift variant +1 more)	Cystinuria	GPathogenic
Select item 2734178	NM_000341.4(SLC3A1):c.1702G>A (p.Gly568Ser)	PREPL, SLC3A1 (G568S)	Single nucleotide variant (missense variant +1 more)	Cystinuria	GUncertain significance
Select item 2734177	NM_000341.4(SLC3A1):c.1684G>C (p.Glu562Gln)	PREPL, SLC3A1 (E562Q)	Single nucleotide variant (missense variant +1 more)	Cystinuria	GUncertain significance
Select item 2734176	NM_000341.4(SLC3A1):c.1640C>A (p.Ser547Ter)	PREPL, SLC3A1 (S547*)	Single nucleotide variant (nonsense +1 more)	Cystinuria	GPathogenic
Select item 2734175	NM_000341.4(SLC3A1):c.1011G>A (p.Pro337=)	SLC3A1	Single nucleotide variant (synonymous variant)	Cystinuria	GPathogenic
Select item 2734174	NM_000341.4(SLC3A1):c.765G>C (p.Trp255Cys)	SLC3A1 (W255C)	Single nucleotide variant (missense variant)	Cystinuria	GPathogenic
Select item 2734173	NM_000341.4(SLC3A1):c.724T>C (p.Cys242Arg)	SLC3A1 (C242R)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2734172	NM_000341.4(SLC3A1):c.452A>G (p.Tyr151Cys)	SLC3A1 (Y151C)	Single nucleotide variant (missense variant)	Cystinuria	GLikely pathogenic
Select item 2734171	NM_000341.4(SLC3A1):c.418G>A (p.Gly140Arg)	SLC3A1 (G140R)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2732611	NM_000341.4(SLC3A1):c.1440T>C (p.Tyr480=)	SLC3A1	Single nucleotide variant (synonymous variant)	Cystinuria	GLikely benign
Select item 2731267	NM_000341.4(SLC3A1):c.892-17del	SLC3A1	Deletion (intron variant)	Cystinuria	GBenign
Select item 2721063	NM_000341.4(SLC3A1):c.919G>C (p.Gly307Arg)	SLC3A1 (G307R)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2709497	NM_000341.4(SLC3A1):c.1653A>G (p.Leu551=)	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant +1 more)	Cystinuria	GLikely benign
Select item 2701711	NM_000341.4(SLC3A1):c.531T>A (p.Val177=)	SLC3A1	Single nucleotide variant (synonymous variant)	Cystinuria	GLikely benign
Select item 2690035	NM_014270.5(SLC7A9):c.1362T>G (p.Phe454Leu)	SLC7A9 (F454L)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2690034	NM_014270.5(SLC7A9):c.1043G>A (p.Arg348His)	SLC7A9 (R348H)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2671951	NM_014270.5(SLC7A9):c.488C>A (p.Ser163Ter)	SLC7A9 (S163*)	Single nucleotide variant (nonsense)	Cystinuria	GLikely pathogenic
Select item 2664184	NM_000341.4(SLC3A1):c.1058C>T (p.Thr353Met)	SLC3A1 (T353M)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2584401	NM_014270.5(SLC7A9):c.235+1del	SLC7A9	Deletion (splice donor variant)	Cystinuria	GPathogenic
Select item 2582318	NM_000341.4(SLC3A1):c.1188C>G (p.Tyr396Ter)	SLC3A1 (Y396*)	Single nucleotide variant (nonsense)	Cystinuria	GLikely pathogenic
Select item 2582222	NM_000341.4(SLC3A1):c.242G>T (p.Arg81Leu)	SLC3A1	Single nucleotide variant (missense variant)	Cystinuria	GPathogenic
Select item 2581131	NM_000341.4(SLC3A1):c.1431_1434dup (p.Tyr479fs)	SLC3A1 (Y479fs)	Duplication (frameshift variant)	Cystinuria	GPathogenic
Select item 2502295	NM_000341.4(SLC3A1):c.1106_1129delinsCCCGGCAGG (p.Asp369_Arg377delinsAlaArgGlnGly)	SLC3A1	Indel (inframe_indel)	Cystinuria	GLikely pathogenic
Select item 2446442	NM_000341.4(SLC3A1):c.332C>T (p.Ser111Phe)	SLC3A1 (S111F)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2446009	NM_014270.5(SLC7A9):c.878T>C (p.Phe293Ser)	SLC7A9 (F293S)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2446008	NM_000341.4(SLC3A1):c.1320G>T (p.Trp440Cys)	SLC3A1 (W440C)	Single nucleotide variant (missense variant)	Cystinuria	GLikely pathogenic
Select item 2446007	NM_000341.4(SLC3A1):c.436C>T (p.Gln146Ter)	SLC3A1 (Q146*)	Single nucleotide variant (nonsense)	Cystinuria	GLikely pathogenic
Select item 2446006	NM_000341.4(SLC3A1):c.1772_1773del (p.Arg591fs)	PREPL, SLC3A1 (R591fs)	Deletion (frameshift variant +1 more)	Cystinuria	GLikely pathogenic
Select item 2446005	NM_000341.4(SLC3A1):c.1337G>A (p.Gly446Asp)	SLC3A1 (G446D)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2446004	NM_000341.4(SLC3A1):c.1216G>T (p.Asp406Tyr)	SLC3A1 (D406Y)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2446003	NM_000341.4(SLC3A1):c.183del (p.Val62fs)	SLC3A1 (V62fs)	Deletion (frameshift variant)	Cystinuria	GLikely pathogenic
Select item 2444138	NM_000341.4(SLC3A1):c.256C>T (p.Arg86Trp)	SLC3A1 (R86W)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2444102	NM_000341.4(SLC3A1):c.1820del (p.Leu607fs)	SLC3A1, PREPL (L607fs)	Deletion (frameshift variant +1 more)	Cystinuria	GLikely pathogenic
Select item 2436076	NM_014270.5(SLC7A9):c.512G>A (p.Arg171Gln)	SLC7A9 (R171Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2436075	NM_014270.5(SLC7A9):c.547G>C (p.Ala183Pro)	SLC7A9 (A183P)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2436074	NM_014270.5(SLC7A9):c.251C>T (p.Ala84Val)	SLC7A9 (A84V)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2436033	NM_000341.4(SLC3A1):c.1390G>A (p.Val464Met)	SLC3A1 (V464M)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2436032	NM_000341.4(SLC3A1):c.1219T>G (p.Phe407Val)	SLC3A1 (F407V)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2436031	NM_000341.4(SLC3A1):c.533A>C (p.Glu178Ala)	SLC3A1 (E178A)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2433572	NM_014270.5(SLC7A9):c.1210G>T (p.Glu404Ter)	SLC7A9 (E404*)	Single nucleotide variant (nonsense)	Cystinuria	GLikely pathogenic
Select item 2433461	NM_000341.4(SLC3A1):c.891+4A>G	SLC3A1	Single nucleotide variant (intron variant)	Cystinuria	GLikely pathogenic
Select item 2431528	NM_014270.5(SLC7A9):c.206G>A (p.Trp69Ter)	SLC7A9 (W69*)	Single nucleotide variant (nonsense)	Cystinuria	GPathogenic
Select item 2422936	NC_000002.11:g.(?_44527090)_(44541110_?)del	SLC3A1	Deletion	Cystinuria	GPathogenic
Select item 2422935	NC_000002.11:g.(?_44547318)_(44586854_?)del	PREPL, SLC3A1	Deletion	Cystinuria	GPathogenic
Select item 2422934	NC_000002.11:g.(?_44508506)_(44508700_?)dup	SLC3A1	Duplication	Cystinuria	GLikely pathogenic
Select item 2422933	NC_000002.11:g.(?_44527090)_(44528286_?)del	SLC3A1	Deletion	Cystinuria	GPathogenic
Select item 2422931	NC_000002.11:g.(?_44507835)_(44508700_?)del	SLC3A1	Deletion	Cystinuria	GPathogenic
Select item 2203059	NM_000341.4(SLC3A1):c.1412C>G (p.Thr471Arg)	SLC3A1 (T471R)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2203058	NM_000341.4(SLC3A1):c.1307dup (p.Glu437fs)	SLC3A1 (E437fs)	Duplication (frameshift variant)	Cystinuria	GPathogenic
Select item 2201557	NM_000341.4(SLC3A1):c.892-13T>G	SLC3A1	Single nucleotide variant (intron variant)	Cystinuria	GLikely benign
Select item 2197935	NM_000341.4(SLC3A1):c.2027G>A (p.Ser676Asn)	PREPL, SLC3A1 (S676N)	Single nucleotide variant (missense variant +1 more)	Cystinuria	GUncertain significance
Select item 2196748	NM_000341.4(SLC3A1):c.1365G>A (p.Ser455=)	SLC3A1	Single nucleotide variant (synonymous variant)	Cystinuria	GLikely benign
Select item 2194451	NM_000341.4(SLC3A1):c.266T>C (p.Leu89Pro)	SLC3A1 (L89P)	Single nucleotide variant (missense variant)	Cystinuria	GLikely pathogenic
Select item 2193674	NM_000341.4(SLC3A1):c.1137-18C>G	SLC3A1	Single nucleotide variant (intron variant)	Cystinuria	GLikely benign
Select item 2191071	NM_000341.4(SLC3A1):c.1166G>A (p.Ser389Asn)	SLC3A1 (S389N)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2186472	NM_000341.4(SLC3A1):c.1882G>A (p.Asp628Asn)	PREPL, SLC3A1 (D628N)	Single nucleotide variant (missense variant +1 more)	Cystinuria	GUncertain significance
Select item 2164752	NM_000341.4(SLC3A1):c.1263G>T (p.Gly421=)	SLC3A1	Single nucleotide variant (synonymous variant)	Cystinuria	GLikely benign
Select item 2157481	NM_000341.4(SLC3A1):c.1332+18C>T	SLC3A1	Single nucleotide variant (intron variant)	Cystinuria	GLikely benign
Select item 2156874	NM_000341.4(SLC3A1):c.2054G>A (p.Cys685Tyr)	PREPL, SLC3A1 (C685Y)	Single nucleotide variant (3 prime UTR variant +1 more)	Cystinuria	GUncertain significance
Select item 2144516	NM_000341.4(SLC3A1):c.1612G>A (p.Val538Ile)	SLC3A1 (V538I)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2139600	NM_000341.4(SLC3A1):c.1012-11G>A	SLC3A1	Single nucleotide variant (intron variant)	Cystinuria	GUncertain significance
Select item 2128981	NM_000341.4(SLC3A1):c.612T>C (p.Gly204=)	SLC3A1	Single nucleotide variant (synonymous variant)	Cystinuria	GUncertain significance
Select item 2098911	NM_000341.4(SLC3A1):c.195T>C (p.Tyr65=)	SLC3A1	Single nucleotide variant (synonymous variant)	Cystinuria	GLikely benign
Select item 2098490	NM_000341.4(SLC3A1):c.1104G>A (p.Met368Ile)	SLC3A1 (M368I)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2077666	NM_000341.4(SLC3A1):c.1149T>C (p.Thr383=)	SLC3A1	Single nucleotide variant (synonymous variant)	Cystinuria	GBenign
Select item 2069947	NM_000341.4(SLC3A1):c.554C>T (p.Pro185Leu)	SLC3A1 (P185L)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2068627	NM_000341.4(SLC3A1):c.8A>G (p.Glu3Gly)	SLC3A1 (E3G)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2066806	NM_000341.4(SLC3A1):c.100A>G (p.Thr34Ala)	SLC3A1 (T34A)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2066430	NM_000341.4(SLC3A1):c.628G>A (p.Asp210Asn)	SLC3A1 (D210N)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2058484	NM_000341.4(SLC3A1):c.762C>A (p.Asn254Lys)	SLC3A1 (N254K)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2057421	NM_000341.4(SLC3A1):c.1136+2T>C	SLC3A1	Single nucleotide variant (splice donor variant)	Cystinuria	GPathogenic
Select item 2056050	NM_000341.4(SLC3A1):c.686G>A (p.Arg229Gln)	SLC3A1 (R229Q)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2052092	NM_000341.4(SLC3A1):c.1618-11T>A	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant +1 more)	Cystinuria	GBenign

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