Related gene-specific medical variations for Gene (Select 6519) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3048747	NM_000341.4(SLC3A1):c.2007C>T (p.Ser669=)	PREPL, SLC3A1	Single nucleotide variant (synonymous variant +1 more)	SLC3A1-related condition	GLikely benign
Select item 3030251	NM_001171613.2(PREPL):c.1827+4T>C	PREPL, SLC3A1	Single nucleotide variant (intron variant)	PREPL-related condition	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 2867289	NM_001171613.2(PREPL):c.1863T>C (p.Leu621=)	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant +1 more)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2840828	NM_001171613.2(PREPL):c.1803T>C (p.His601=)	PREPL, SLC3A1	Single nucleotide variant (synonymous variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2825759	NM_001171613.2(PREPL):c.1827+8A>T	PREPL, SLC3A1	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2793680	NM_001171613.2(PREPL):c.1908G>C (p.Leu636=)	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant +1 more)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2787886	NM_001171613.2(PREPL):c.1754-7C>T	PREPL, SLC3A1	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 22	GLikely benign
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 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 2729319	NM_001171613.2(PREPL):c.1828-14T>C	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant +1 more)	Myasthenic syndrome, congenital, 22	GLikely benign
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 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 2446006	NM_000341.4(SLC3A1):c.1772_1773del (p.Arg591fs)	PREPL, SLC3A1 (R591fs)	Deletion (frameshift variant +1 more)	Cystinuria	GLikely pathogenic
Select item 2444102	NM_000341.4(SLC3A1):c.1820del (p.Leu607fs)	SLC3A1, PREPL (L607fs)	Deletion (frameshift variant +1 more)	Cystinuria	GLikely pathogenic
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 2433461	NM_000341.4(SLC3A1):c.891+4A>G	SLC3A1	Single nucleotide variant (intron variant)	Cystinuria	GLikely pathogenic
Select item 2328799	NM_001171613.2(PREPL):c.1777C>G (p.Leu593Val)	PREPL, SLC3A1 (L593V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203046	NM_001171613.2(PREPL):c.1784T>C (p.Ile595Thr)	SLC3A1, PREPL (I618T +3 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 2200526	NM_001171613.2(PREPL):c.1799A>G (p.Asn600Ser)	PREPL, SLC3A1 (N600S +3 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 2199130	NM_001171613.2(PREPL):c.1827+16C>T	PREPL, SLC3A1	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 22	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 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 2157423	NM_001171613.2(PREPL):c.1827G>T (p.Lys609Asn)	PREPL, SLC3A1 (K609N +3 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 22	GLikely pathogenic
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 2133084	NM_001171613.2(PREPL):c.1828-3_1828-2insCACAAATGTCCTATCTATGGGTGAGACCCAGGAGGGGAGGGAGGGACACTGTGTCAATCAAG	PREPL, SLC3A1	Insertion (3 prime UTR variant +1 more)	Myasthenic syndrome, congenital, 22	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
Select item 2048650	NM_001171613.2(PREPL):c.1827+11A>T	PREPL, SLC3A1	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 2041653	NM_000341.4(SLC3A1):c.1618-16T>C	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant +1 more)	Cystinuria	GLikely benign
Select item 2030910	NM_001171613.2(PREPL):c.1828-13G>A	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant +1 more)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 1936625	NM_000341.4(SLC3A1):c.1974C>A (p.Arg658=)	PREPL, SLC3A1	Single nucleotide variant (synonymous variant +1 more)	Cystinuria	GLikely benign
Select item 1925357	NM_001171613.2(PREPL):c.1839A>G (p.Gln613=)	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant +1 more)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 1923060	NM_000341.4(SLC3A1):c.1954A>G (p.Thr652Ala)	PREPL, SLC3A1 (T652A)	Single nucleotide variant (missense variant +1 more)	Cystinuria	GUncertain significance
Select item 1687510	NM_000341.4(SLC3A1):c.1657C>G (p.Gln553Glu)	PREPL, SLC3A1 (Q553E)	Single nucleotide variant (missense variant +1 more)	Cystinuria	GUncertain significance
Select item 1622174	NM_001171613.2(PREPL):c.1828-17T>A	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant +1 more)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 1612434	NM_001171613.2(PREPL):c.1827+15C>T	PREPL, SLC3A1	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 1582351	NM_001171613.2(PREPL):c.1887C>T (p.Phe629=)	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant +1 more)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 1526474	GRCh37/hg19 2p21(chr2:44477164-44540343)	SLC3A1	Copy number loss	not specified	GUncertain significance
Select item 1524575	NM_000341.4(SLC3A1):c.1870A>G (p.Thr624Ala)	PREPL, SLC3A1 (T624A)	Single nucleotide variant (missense variant +1 more)	SLC3A1-related condition +1 more	GUncertain significance
Select item 1485650	NM_000341.4(SLC3A1):c.1921G>T (p.Asp641Tyr)	PREPL, SLC3A1 (D641Y)	Single nucleotide variant (missense variant +1 more)	Cystinuria	GUncertain significance
Select item 1483433	NM_001171613.2(PREPL):c.1815T>G (p.Asp605Glu)	PREPL, SLC3A1 (D628E +3 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 1481123	NM_001171613.2(PREPL):c.1839A>T (p.Gln613His)	PREPL, SLC3A1 (Q636H +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 1467997	NM_001171613.2(PREPL):c.1868T>A (p.Leu623His)	PREPL, SLC3A1 (L623H +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 1458961	NM_001171613.2(PREPL):c.1754-20C>T	PREPL, SLC3A1	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 1447272	NM_001171613.2(PREPL):c.1870G>C (p.Asp624His)	PREPL, SLC3A1 (D624H +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 1418801	NM_001171613.2(PREPL):c.1881T>A (p.Ser627Arg)	PREPL, SLC3A1 (S627R +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 1415931	NM_001171613.2(PREPL):c.1763C>G (p.Thr588Ser)	PREPL, SLC3A1 (T615S +3 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 1413964	NM_001171613.2(PREPL):c.1798A>C (p.Asn600His)	PREPL, SLC3A1 (N600H +3 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 1398355	NM_001171613.2(PREPL):c.1882G>T (p.Val628Phe)	PREPL, SLC3A1 (V651F +3 more)	Single nucleotide variant (missense variant +1 more)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 1385786	NM_001171613.2(PREPL):c.1771ATT[1] (p.Ile592del)	PREPL, SLC3A1 (I681del +3 more)	Microsatellite (inframe_deletion)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 1345653	NM_000341.4(SLC3A1):c.1991A>G (p.Asp664Gly)	PREPL, SLC3A1 (D664G)	Single nucleotide variant (3 prime UTR variant +1 more)	Cystinuria	GUncertain significance
Select item 1344665	NM_000341.4(SLC3A1):c.1799G>A (p.Gly600Glu)	PREPL, SLC3A1 (G600E)	Single nucleotide variant (missense variant +1 more)	Cystinuria	GUncertain significance
Select item 1325092	NM_000341.4(SLC3A1):c.1012-9_1012del	SLC3A1	Deletion (splice acceptor variant)	Cystinuria	GLikely pathogenic
Select item 1319457	NM_000341.4(SLC3A1):c.766-2A>C	SLC3A1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1291996	NM_001171613.2(PREPL):c.*1364T>C	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1277735	NM_001171613.2(PREPL):c.1754-190C>T	PREPL, SLC3A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267967	NM_001171613.2(PREPL):c.1828-29A>G	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant +1 more)	Myasthenic syndrome, congenital, 22 +1 more	GBenign
Select item 1244192	NM_001171613.2(PREPL):c.1754-165T>C	PREPL, SLC3A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242368	NM_001171613.2(PREPL):c.*1259C>G	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1228567	NM_001171613.2(PREPL):c.*1353T>C	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1153172	NM_001171613.2(PREPL):c.1806A>G (p.Val602=)	SLC3A1, PREPL	Single nucleotide variant (synonymous variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 1131492	NM_001171613.2(PREPL):c.1827+10C>G	PREPL, SLC3A1	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 1110786	NM_001171613.2(PREPL):c.1848C>T (p.Phe616=)	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant +1 more)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 1110201	NM_001171613.2(PREPL):c.1828-7C>A	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant +1 more)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 1105751	NM_000341.4(SLC3A1):c.1836G>C (p.Ser612=)	PREPL, SLC3A1	Single nucleotide variant (synonymous variant +1 more)	Cystinuria	GLikely benign
Select item 1101006	NM_001171613.2(PREPL):c.1872C>T (p.Asp624=)	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant +1 more)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 1071553	NM_000341.4(SLC3A1):c.1699_1700del (p.Arg567fs)	PREPL, SLC3A1 (R567fs)	Deletion (frameshift variant +1 more)	Cystinuria	GPathogenic
Select item 1058696	NM_001171613.2(PREPL):c.1827+5G>A	PREPL, SLC3A1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1053970	NM_001171613.2(PREPL):c.1797C>T (p.Gly599=)	PREPL, SLC3A1	Single nucleotide variant (synonymous variant)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 1050380	NM_000341.4(SLC3A1):c.1846G>A (p.Ala616Thr)	PREPL, SLC3A1 (A616T)	Single nucleotide variant (missense variant +1 more)	Cystinuria	GUncertain significance
Select item 1041951	NM_000341.4(SLC3A1):c.1768G>A (p.Asp590Asn)	PREPL, SLC3A1 (D590N)	Single nucleotide variant (missense variant +1 more)	Cystinuria	GUncertain significance
Select item 1036670	NM_001171613.2(PREPL):c.1783A>T (p.Ile595Phe)	PREPL, SLC3A1 (I618F +3 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 22 +1 more	GUncertain significance
Select item 1026394	NM_000341.4(SLC3A1):c.1823ATA[1] (p.Asn609del)	PREPL, SLC3A1 (N609del)	Microsatellite (inframe_deletion +1 more)	Cystinuria	GUncertain significance
Select item 1025280	NM_001171613.2(PREPL):c.1827+3A>G	PREPL, SLC3A1	Single nucleotide variant (intron variant)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 1010015	NM_001171613.2(PREPL):c.1849C>G (p.Leu617Val)	PREPL, SLC3A1 (L617V +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1001980	NM_000341.4(SLC3A1):c.1796T>C (p.Phe599Ser)	PREPL, SLC3A1 (F599S)	Single nucleotide variant (missense variant +1 more)	Cystinuria	GUncertain significance
Select item 976545	NM_001171613.2(PREPL):c.1906C>T (p.Leu636=)	PREPL, SLC3A1	Single nucleotide variant (synonymous variant +1 more)	Myasthenic syndrome, congenital, 22	GLikely benign
Select item 971299	NM_001171613.2(PREPL):c.1792G>C (p.Gly598Arg)	PREPL, SLC3A1 (G598R +3 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 967466	NM_001171613.2(PREPL):c.1796G>A (p.Gly599Asp)	PREPL, SLC3A1 (G599D +3 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 955178	NM_001171613.2(PREPL):c.1757A>G (p.Tyr586Cys)	PREPL, SLC3A1 (Y586C +3 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 953279	NM_000341.4(SLC3A1):c.1749_1750del (p.Glu585fs)	PREPL, SLC3A1 (E585fs)	Deletion (frameshift variant +1 more)	Cystinuria	GPathogenic
Select item 947865	NM_001171613.2(PREPL):c.1839A>C (p.Gln613His)	PREPL, SLC3A1 (Q640H +3 more)	Single nucleotide variant (missense variant +1 more)	Myasthenic syndrome, congenital, 22 +1 more	GUncertain significance
Select item 946116	NM_001171613.2(PREPL):c.1808T>C (p.Ile603Thr)	PREPL, SLC3A1 (I692T +3 more)	Single nucleotide variant (missense variant)	Myasthenic syndrome, congenital, 22	GUncertain significance
Select item 898762	NM_001171613.2(PREPL):c.*561A>G	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant)	Cystinuria	GUncertain significance
Select item 898761	NM_001171613.2(PREPL):c.*608T>C	PREPL, SLC3A1	Single nucleotide variant (3 prime UTR variant)	Cystinuria	GUncertain significance
Select item 897604	NM_000341.4(SLC3A1):c.1934G>C (p.Gly645Ala)	SLC3A1, PREPL (G645A)	Single nucleotide variant (missense variant +1 more)	Cystinuria	GUncertain significance
Select item 897603	NM_000341.4(SLC3A1):c.1840C>A (p.Leu614Ile)	PREPL, SLC3A1 (L614I)	Single nucleotide variant (missense variant +1 more)	Cystinuria	GUncertain significance
Select item 897602	NM_000341.4(SLC3A1):c.1826A>G (p.Asn609Ser)	PREPL, SLC3A1 (N609S)	Single nucleotide variant (missense variant +1 more)	Cystinuria	GConflicting classifications of pathogenicity
Select item 861847	NM_001171613.2(PREPL):c.1844A>G (p.Lys615Arg)	PREPL, SLC3A1 (K642R +3 more)	Single nucleotide variant (missense variant +1 more)	Myasthenic syndrome, congenital, 22 +1 more	GUncertain significance

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