SLC52A3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150785	GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3	ADAM33, ADISSP +348 more	Copy number gain	See cases	GPathogenic
Select item 150565	GRCh38/hg38 20p13(chr20:80093-1246766)x1	ANGPT4, C20orf202 +76 more	Copy number loss	See cases	GPathogenic
Select item 154852	GRCh38/hg38 20p13(chr20:80106-1246891)x1	ANGPT4, C20orf202 +76 more	Copy number loss	See cases	GLikely pathogenic
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	MCM8, MCM8-AS1 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC111365169, LOC111365189 +833 more	Copy number gain	See cases	GPathogenic
Select item 155633	GRCh38/hg38 20p13(chr20:80927-1806080)x1	ANGPT4, C20orf202 +103 more	Copy number loss	See cases	GLikely pathogenic
Select item 154176	GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3	LOC130065300, LOC130065301 +306 more	Copy number gain	See cases	GUncertain significance
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	MIR6869, MIR6870 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 152841	GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	ADAM33, ADISSP +347 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 161074	GRCh38/hg38 20p13(chr20:89939-1852477)x1	ANGPT4, C20orf202 +104 more	Copy number loss	See cases	GPathogenic
Select item 146529	GRCh38/hg38 20p13(chr20:89939-1494113)x1	ANGPT4, C20orf202 +96 more	Copy number loss	See cases	GPathogenic
Select item 146515	GRCh38/hg38 20p13(chr20:89939-1246891)x3	ANGPT4, C20orf202 +76 more	Copy number gain	See cases	GUncertain significance
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	LOC130065416, LOC130065417 +579 more	Copy number gain	See cases	GPathogenic
Select item 58943	GRCh38/hg38 20p13(chr20:89939-1770567)x1	ANGPT4, C20orf202 +102 more	Copy number loss	See cases	GPathogenic
Select item 58942	GRCh38/hg38 20p13(chr20:89939-1939218)x1	LOC112694731, LOC113939990 +110 more	Copy number loss	See cases	GPathogenic
Select item 58941	GRCh38/hg38 20p13(chr20:89939-975656)x1	ANGPT4, C20orf96 +64 more	Copy number loss	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	LOC126862999, LOC126863005 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	ADAM33, ADISSP +581 more	Copy number gain	See cases	GPathogenic
Select item 57307	GRCh38/hg38 20p13(chr20:89939-1028206)x3	ANGPT4, C20orf96 +65 more	Copy number gain	See cases	GPathogenic
Select item 57188	GRCh38/hg38 20p13(chr20:89939-1360110)x1	ANGPT4, C20orf202 +87 more	Copy number loss	See cases	GPathogenic
Select item 35265	GRCh38/hg38 20p13(chr20:89939-1852477)x1	ANGPT4, C20orf202 +104 more	Copy number loss	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 more	Copy number gain	See cases	GPathogenic
Select item 58945	GRCh38/hg38 20p13(chr20:121781-2290194)x1	ANGPT4, C20orf202 +120 more	Copy number loss	See cases	GPathogenic
Select item 152298	GRCh38/hg38 20p13(chr20:209424-1852477)x3	ANGPT4, C20orf202 +100 more	Copy number gain	See cases	GUncertain significance
Select item 151036	GRCh38/hg38 20p13(chr20:364204-879317)x3	ANGPT4, CSNK2A1 +34 more	Copy number gain	See cases	GUncertain significance
Select item 1705027	GRCh38/hg38 20p13(chr20:453176-822262)x1	CSNK2A1, LOC121852996 +17 more	Copy number loss	Delayed speech and language development +4 more	GPathogenic
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)	not provided +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)	Brown-Vialetto-van Laere syndrome 1 +1 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)	Inborn genetic diseases +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	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 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 1133720	NM_033409.4(SLC52A3):c.1288T>C (p.Leu430=)	SLC52A3	Single nucleotide variant (synonymous variant)	SLC52A3-related condition +1 more	GLikely benign
Select item 476600	NM_033409.4(SLC52A3):c.1278C>T (p.Arg426=)	SLC52A3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +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 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)	Brown-Vialetto-van Laere syndrome 1 +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

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