SLC52A3[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 453292	NC_000020.11:g.759188G>A	SLC52A3	Single nucleotide variant	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 1204306	NM_033409.4(SLC52A3):c.*284G>A	SLC52A3	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 652376	NC_000020.10:g.(?_741650)_(746438_?)dup	SLC52A3	Duplication	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 640455	NC_000020.11:g.(?_761006)_(765794_?)del	SLC52A3	Deletion	Brown-Vialetto-van Laere syndrome 1	GPathogenic
Select item 262227	NM_033409.4(SLC52A3):c.*16del	SLC52A3	Deletion (3 prime UTR variant)	not specified +1 more	GBenign
Select item 667164	NM_033409.4(SLC52A3):c.*13C>A	SLC52A3	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 667165	NM_033409.4(SLC52A3):c.*12A>G	SLC52A3	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 1375233	NM_033409.4(SLC52A3):c.1407C>G (p.Ala469=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 651312	NM_033409.4(SLC52A3):c.1403_1404insTGCCTTCTGCAATCTGCACTGTCC (p.Phe462_Ala469dup)	SLC52A3	Insertion (inframe_insertion)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 476604	NM_033409.4(SLC52A3):c.1381G>T (p.Asp461Tyr)	SLC52A3 (D461Y)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1 +2 more	GUncertain significance
Select item 2843970	NM_033409.4(SLC52A3):c.1380G>C (p.Ala460=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 2056177	NM_033409.4(SLC52A3):c.1374G>A (p.Ser458=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 476603	NM_033409.4(SLC52A3):c.1374G>T (p.Ser458=)	SLC52A3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 655082	NM_033409.4(SLC52A3):c.1373C>A (p.Ser458Ter)	SLC52A3 (S458*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3026553	NM_033409.4(SLC52A3):c.1372T>G (p.Ser458Ala)	SLC52A3 (S458A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 210029	NM_033409.4(SLC52A3):c.1371C>G (p.Phe457Leu)	SLC52A3 (F457L)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 1132041	NM_033409.4(SLC52A3):c.1368C>T (p.Leu456=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 476602	NM_033409.4(SLC52A3):c.1363C>T (p.Arg455Trp)	SLC52A3 (R455W)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 1087198	NM_033409.4(SLC52A3):c.1359G>A (p.Val453=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 1149014	NM_033409.4(SLC52A3):c.1353C>G (p.Val451=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 2786043	NM_033409.4(SLC52A3):c.1346C>G (p.Pro449Arg)	SLC52A3 (P449R)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1 +1 more	GUncertain significance
Select item 1431118	NM_033409.4(SLC52A3):c.1340T>C (p.Met447Thr)	SLC52A3 (M447T)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 937442	NM_033409.4(SLC52A3):c.1327_1338dup (p.Gly443_Leu446dup)	SLC52A3	Duplication (inframe_insertion)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 645920	NM_033409.4(SLC52A3):c.1327_1338del (p.Gly443_Leu446del)	SLC52A3	Deletion (inframe_deletion)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 1382838	NM_033409.4(SLC52A3):c.1336C>T (p.Leu446Phe)	SLC52A3 (L446F)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 663677	NM_033409.4(SLC52A3):c.1334T>C (p.Leu445Pro)	SLC52A3 (L445P)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 429375	NM_033409.4(SLC52A3):c.1334T>G (p.Leu445Arg)	SLC52A3 (L445R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1383680	NM_033409.4(SLC52A3):c.1333C>G (p.Leu445Val)	SLC52A3 (L445V)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 796006	NM_033409.4(SLC52A3):c.1329A>G (p.Gly443=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 657282	NM_033409.4(SLC52A3):c.1326C>A (p.Leu442=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 139	NM_033409.4(SLC52A3):c.1325_1326del (p.Leu442fs)	SLC52A3 (L442fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1590462	NM_033409.4(SLC52A3):c.1320G>A (p.Ser440=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 488380	NM_033409.4(SLC52A3):c.1316G>A (p.Gly439Asp)	SLC52A3 (G439D)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1	GLikely pathogenic
Select item 521340	NM_033409.4(SLC52A3):c.1313T>C (p.Leu438Pro)	SLC52A3 (L438P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 476601	NM_033409.4(SLC52A3):c.1311G>C (p.Gln437His)	SLC52A3 (Q437H)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 1515782	NM_033409.4(SLC52A3):c.1306G>A (p.Val436Met)	SLC52A3 (V436M)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 2161608	NM_033409.4(SLC52A3):c.1305G>A (p.Ala435=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 1059950	NM_033409.4(SLC52A3):c.1301C>T (p.Ala434Val)	SLC52A3 (A434V)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 3165183	NM_033409.4(SLC52A3):c.1300G>A (p.Ala434Thr)	SLC52A3 (A434T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2022959	NM_033409.4(SLC52A3):c.1300del (p.Ala434fs)	SLC52A3 (A434fs)	Deletion (frameshift variant)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 210027	NM_033409.4(SLC52A3):c.1296C>A (p.Cys432Ter)	SLC52A3 (C432*)	Single nucleotide variant (nonsense)	Brown-Vialetto-van Laere syndrome 1	Gnot provided
Select item 3340167	NM_033409.4(SLC52A3):c.1292G>A (p.Trp431Ter)	SLC52A3 (W431*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1133720	NM_033409.4(SLC52A3):c.1288T>C (p.Leu430=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 476600	NM_033409.4(SLC52A3):c.1278C>T (p.Arg426=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1 +2 more	GLikely benign
Select item 1020527	NM_033409.4(SLC52A3):c.1276C>T (p.Arg426Cys)	SLC52A3 (R426C)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 2037693	NM_033409.4(SLC52A3):c.1273A>C (p.Ser425Arg)	SLC52A3 (S425R)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1 +1 more	GUncertain significance
Select item 766193	NM_033409.4(SLC52A3):c.1272C>G (p.Leu424=)	SLC52A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 476599	NM_033409.4(SLC52A3):c.1270C>T (p.Leu424Phe)	SLC52A3 (L424F)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1 +2 more	GUncertain significance
Select item 1123950	NM_033409.4(SLC52A3):c.1266C>G (p.Arg422=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 1054935	NM_033409.4(SLC52A3):c.1265G>A (p.Arg422His)	SLC52A3 (R422H)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 666755	NM_033409.4(SLC52A3):c.1263G>T (p.Leu421=)	SLC52A3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1131104	NM_033409.4(SLC52A3):c.1260C>A (p.Val420=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 2781556	NM_033409.4(SLC52A3):c.1257G>T (p.Val419=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 1404894	NM_033409.4(SLC52A3):c.1254C>T (p.Gly418=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 2606993	NM_033409.4(SLC52A3):c.1253G>A (p.Gly418Asp)	SLC52A3 (G418D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1505454	NM_033409.4(SLC52A3):c.1248G>A (p.Met416Ile)	SLC52A3 (M416I)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 2140884	NM_033409.4(SLC52A3):c.1241A>G (p.Lys414Arg)	SLC52A3 (K414R)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 3372825	NM_033409.4(SLC52A3):c.1198-20_1237dup	SLC52A3	Duplication (splice acceptor variant)	not provided	GUncertain significance
Select item 144	NM_033409.4(SLC52A3):c.1238T>C (p.Val413Ala)	SLC52A3 (V413A)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2872877	NM_033409.4(SLC52A3):c.1233delinsCCTACGCTTCCCTCCCGGCCCCGCAGGTGGCCTCGTGGGTGCTTTTCAGCGGCTGCCTCAG (p.Ser411_Tyr412insLeuArgPheProProGlyProAlaGlyGlyLeuValGlyAlaPheGlnArgLeuProGln)	SLC52A3	Indel (inframe_insertion)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 1463783	NM_033409.4(SLC52A3):c.1233T>G (p.Ser411Arg)	SLC52A3 (S411R)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 262230	NM_033409.4(SLC52A3):c.1233T>C (p.Ser411=)	SLC52A3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 2811244	NM_033409.4(SLC52A3):c.1227C>T (p.Cys409=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 1361335	NM_033409.4(SLC52A3):c.1226G>A (p.Cys409Tyr)	SLC52A3 (C409Y)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 392722	NM_033409.4(SLC52A3):c.1223G>A (p.Gly408Asp)	SLC52A3 (G408D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1535621	NM_033409.4(SLC52A3):c.1221C>T (p.Ser407=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 1717333	NM_033409.4(SLC52A3):c.1218C>A (p.Phe406Leu)	SLC52A3 (F406L)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 1622853	NM_033409.4(SLC52A3):c.1215T>C (p.Leu405=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 1640215	NM_033409.4(SLC52A3):c.1212G>A (p.Val404=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 2603762	NM_033409.4(SLC52A3):c.1210G>A (p.Val404Met)	SLC52A3 (V404M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1935552	NM_033409.4(SLC52A3):c.1210G>T (p.Val404Leu)	SLC52A3 (V404L)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 2772135	NM_033409.4(SLC52A3):c.1206G>C (p.Ser402=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 2065376	NM_033409.4(SLC52A3):c.1206G>T (p.Ser402=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 1748588	NM_033409.4(SLC52A3):c.1205C>G (p.Ser402Trp)	SLC52A3 (S402W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1748142	NM_033409.4(SLC52A3):c.1203dup (p.Ser402fs)	SLC52A3 (S402fs)	Duplication (frameshift variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1473409	NM_033409.4(SLC52A3):c.1204T>A (p.Ser402Thr)	SLC52A3 (S402T)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 944355	NM_033409.4(SLC52A3):c.1201G>T (p.Ala401Ser)	SLC52A3 (A401S)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1 +1 more	GUncertain significance
Select item 581822	NM_033409.4(SLC52A3):c.1201G>A (p.Ala401Thr)	SLC52A3 (A401T)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 704755	NM_033409.4(SLC52A3):c.1200G>A (p.Val400=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 937441	NM_033409.4(SLC52A3):c.1198-2A>G	SLC52A3	Single nucleotide variant (splice acceptor variant)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 210025	NM_033409.4(SLC52A3):c.1198-2A>C	SLC52A3	Single nucleotide variant (splice acceptor variant)	Progressive bulbar palsy of childhood	GPathogenic
Select item 3014813	NM_033409.4(SLC52A3):c.1198-5C>G	SLC52A3	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 704896	NM_033409.4(SLC52A3):c.1198-6C>T	SLC52A3	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 1116952	NM_033409.4(SLC52A3):c.1198-8C>A	SLC52A3	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 2700579	NM_033409.4(SLC52A3):c.1198-10G>C	SLC52A3	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 1295534	NM_033409.4(SLC52A3):c.1197+128G>C	SLC52A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185470	NM_033409.4(SLC52A3):c.1197+108C>T	SLC52A3	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 1 +2 more	GBenign
Select item 1185471	NM_033409.4(SLC52A3):c.1197+106A>G	SLC52A3	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 1 +2 more	GBenign
Select item 1215105	NM_033409.4(SLC52A3):c.1197+93C>T	SLC52A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1489942	NM_033409.4(SLC52A3):c.1197+18G>A	SLC52A3	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 1657492	NM_033409.4(SLC52A3):c.1197+15G>T	SLC52A3	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 1629427	NM_033409.4(SLC52A3):c.1197+14C>G	SLC52A3	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 1922795	NM_033409.4(SLC52A3):c.1197+13C>T	SLC52A3	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 1626290	NM_033409.4(SLC52A3):c.1197+10C>T	SLC52A3	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 859567	NM_033409.4(SLC52A3):c.1195A>G (p.Ile399Val)	SLC52A3 (I399V)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 972174	NM_033409.4(SLC52A3):c.1192C>T (p.Leu398Phe)	SLC52A3 (L398F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1506578	NM_033409.4(SLC52A3):c.1189G>A (p.Val397Ile)	SLC52A3 (V397I)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 951445	NM_033409.4(SLC52A3):c.1177T>C (p.Trp393Arg)	SLC52A3 (W393R)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1 +1 more	GUncertain significance
Select item 838053	NM_033409.4(SLC52A3):c.1172G>A (p.Gly391Asp)	SLC52A3 (G391D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1737170	NM_033409.4(SLC52A3):c.1162C>G (p.Leu388Val)	SLC52A3 (L388V)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1 +1 more	GUncertain significance

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