ClinVar for MedGen (Select 163239) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248316	NC_000020.10:g.(?_745957)_(749607_?)del	SLC52A3	Deletion	Brown-Vialetto-van Laere syndrome 1	GPathogenic
Select item 3015214	NM_033409.4(SLC52A3):c.1074-15C>T	SLC52A3	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
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 2988463	NM_033409.4(SLC52A3):c.1038T>A (p.Pro346=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 2984024	NM_033409.4(SLC52A3):c.162G>A (p.Gly54=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 2920552	NM_033409.4(SLC52A3):c.853C>T (p.Gln285Ter)	SLC52A3 (Q285*)	Single nucleotide variant (nonsense)	Brown-Vialetto-van Laere syndrome 1	GPathogenic
Select item 2918683	NM_033409.4(SLC52A3):c.318C>T (p.Ile106=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 2915250	NM_033409.4(SLC52A3):c.564A>C (p.Ala188=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 2881942	NM_033409.4(SLC52A3):c.705C>G (p.Leu235=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 2879316	NM_033409.4(SLC52A3):c.78G>A (p.Glu26=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
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 2854777	NM_033409.4(SLC52A3):c.474C>T (p.Ala158=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
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 2836889	NM_033409.4(SLC52A3):c.661C>T (p.Leu221=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 2819717	NM_033409.4(SLC52A3):c.45C>A (p.Gly15=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 2815140	NM_033409.4(SLC52A3):c.790_791del (p.Ser264fs)	SLC52A3 (S264fs)	Deletion (frameshift variant)	Brown-Vialetto-van Laere syndrome 1	GPathogenic
Select item 2815117	NM_033409.4(SLC52A3):c.51G>A (p.Trp17Ter)	SLC52A3 (W17*)	Single nucleotide variant (nonsense)	Brown-Vialetto-van Laere syndrome 1	GPathogenic
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 2806408	NM_033409.4(SLC52A3):c.568-6T>C	SLC52A3	Single nucleotide variant (intron 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 2785607	NM_033409.4(SLC52A3):c.293G>A (p.Trp98Ter)	SLC52A3 (W98*)	Single nucleotide variant (nonsense)	Brown-Vialetto-van Laere syndrome 1	GPathogenic
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 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 2732099	NM_033409.4(SLC52A3):c.625C>T (p.Leu209=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 2724709	NM_033409.4(SLC52A3):c.1074-13T>G	SLC52A3	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 2719136	NM_033409.4(SLC52A3):c.291C>G (p.Ser97=)	SLC52A3	Single nucleotide variant (synonymous 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 2583157	NM_033409.4(SLC52A3):c.374C>T (p.Thr125Ile)	SLC52A3 (T125I)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1	GLikely pathogenic
Select item 2427134	NC_000020.10:g.(?_741670)_(742488_?)dup	SLC52A3	Duplication	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 2427133	NC_000020.10:g.(?_744142)_(745909_?)del	SLC52A3	Deletion	Brown-Vialetto-van Laere syndrome 1	GLikely pathogenic
Select item 2417459	NM_033409.4(SLC52A3):c.685A>C (p.Ile229Leu)	SLC52A3 (I229L)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 2197501	NM_033409.4(SLC52A3):c.503A>G (p.Asn168Ser)	SLC52A3 (N168S)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 2190631	NM_033409.4(SLC52A3):c.798G>A (p.Arg266=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 2184596	NM_033409.4(SLC52A3):c.282T>C (p.Asn94=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 2173927	NM_033409.4(SLC52A3):c.411C>T (p.Tyr137=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 2173111	NM_033409.4(SLC52A3):c.934G>A (p.Ala312Thr)	SLC52A3 (A312T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2171750	NM_033409.4(SLC52A3):c.542C>A (p.Pro181His)	SLC52A3 (P181H)	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 2155652	NM_033409.4(SLC52A3):c.1104G>C (p.Val368=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 2154127	NM_033409.4(SLC52A3):c.408C>G (p.Tyr136Ter)	SLC52A3 (Y136*)	Single nucleotide variant (nonsense)	Brown-Vialetto-van Laere syndrome 1	GPathogenic
Select item 2153907	NM_033409.4(SLC52A3):c.1027G>T (p.Val343Leu)	SLC52A3 (V343L)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 2151553	NM_033409.4(SLC52A3):c.908T>C (p.Ile303Thr)	SLC52A3 (I303T)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 2144928	NM_033409.4(SLC52A3):c.726G>A (p.Gln242=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 2143852	NM_033409.4(SLC52A3):c.694G>T (p.Ala232Ser)	SLC52A3 (A232S)	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 2121044	NM_033409.4(SLC52A3):c.353T>A (p.Val118Glu)	SLC52A3 (V118E)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 2118671	NM_033409.4(SLC52A3):c.23T>C (p.Leu8Pro)	SLC52A3 (L8P)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 2112099	NM_033409.4(SLC52A3):c.1074-16C>T	SLC52A3	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 2106584	NM_033409.4(SLC52A3):c.745G>A (p.Glu249Lys)	SLC52A3 (E249K)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 2093041	NM_033409.4(SLC52A3):c.1038T>G (p.Pro346=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 2092699	NM_033409.4(SLC52A3):c.816C>T (p.Asp272=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 2092270	NM_033409.4(SLC52A3):c.840C>A (p.Asp280Glu)	SLC52A3 (D280E)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 2078382	NM_033409.4(SLC52A3):c.858G>A (p.Gly286=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 2072378	NM_033409.4(SLC52A3):c.568-11G>A	SLC52A3	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 2070695	NM_033409.4(SLC52A3):c.1121G>A (p.Gly374Glu)	SLC52A3 (G374E)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1 +1 more	GUncertain significance
Select item 2067816	NM_033409.4(SLC52A3):c.1124G>T (p.Gly375Val)	SLC52A3 (G375V)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 2066372	NM_033409.4(SLC52A3):c.909C>T (p.Ile303=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 2065450	NM_033409.4(SLC52A3):c.1074-8T>C	SLC52A3	Single nucleotide variant (intron 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 2062171	NM_033409.4(SLC52A3):c.36C>T (p.Phe12=)	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 2052671	NM_033409.4(SLC52A3):c.995T>C (p.Val332Ala)	SLC52A3 (V332A)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 2044246	NM_033409.4(SLC52A3):c.567+17G>A	SLC52A3	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 2043551	NM_033409.4(SLC52A3):c.591C>T (p.Ser197=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
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 2025037	NM_033409.4(SLC52A3):c.237G>T (p.Leu79=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 2024700	NM_033409.4(SLC52A3):c.1017C>T (p.Thr339=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
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 2003820	NM_033409.4(SLC52A3):c.1074-4C>A	SLC52A3	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 1996505	NM_033409.4(SLC52A3):c.1009G>C (p.Ala337Pro)	SLC52A3 (A337P)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 1993579	NM_033409.4(SLC52A3):c.56C>T (p.Thr19Ile)	SLC52A3 (T19I)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 1992676	NM_033409.4(SLC52A3):c.1101C>G (p.Ser367=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 1992208	NM_033409.4(SLC52A3):c.436G>A (p.Gly146Arg)	SLC52A3 (G146R)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 1988941	NM_033409.4(SLC52A3):c.658C>T (p.Pro220Ser)	SLC52A3 (P220S)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 1982224	NM_033409.4(SLC52A3):c.1073+11A>C	SLC52A3	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 1977484	NM_033409.4(SLC52A3):c.561C>T (p.Ile187=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 1971898	NM_033409.4(SLC52A3):c.1081C>A (p.Leu361Met)	SLC52A3 (L361M)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 1968757	NM_033409.4(SLC52A3):c.718G>A (p.Val240Ile)	SLC52A3 (V240I)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 1952711	NM_033409.4(SLC52A3):c.761A>T (p.Asp254Val)	SLC52A3 (D254V)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1 +1 more	GUncertain significance
Select item 1940829	NM_033409.4(SLC52A3):c.676C>T (p.Leu226Phe)	SLC52A3 (L226F)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1	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 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 1919683	NM_033409.4(SLC52A3):c.197C>G (p.Pro66Arg)	SLC52A3 (P66R)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 1912587	NM_033409.4(SLC52A3):c.1074-16C>G	SLC52A3	Single nucleotide variant (intron variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 1796413	NM_033409.4(SLC52A3):c.281A>G (p.Asn94Ser)	SLC52A3 (N94S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1760485	NM_033409.4(SLC52A3):c.775C>T (p.Gln259Ter)	SLC52A3 (Q259*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
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
Select item 1728911	NM_033409.4(SLC52A3):c.320C>T (p.Ala107Val)	SLC52A3 (A107V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1719869	NM_033409.4(SLC52A3):c.671T>G (p.Phe224Cys)	SLC52A3 (F224C)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
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 1717038	NM_033409.4(SLC52A3):c.1123G>T (p.Gly375Cys)	SLC52A3 (G375C)	Single nucleotide variant (missense variant)	Brown-Vialetto-van Laere syndrome 1	GUncertain significance
Select item 1709238	NM_033409.4(SLC52A3):c.742del (p.Trp248fs)	SLC52A3 (W248fs)	Deletion (frameshift variant)	Brown-Vialetto-van Laere syndrome 1	GLikely pathogenic
Select item 1664243	NM_033409.4(SLC52A3):c.1073+16G>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 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 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 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 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 1619582	NM_033409.4(SLC52A3):c.1047G>C (p.Ser349=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign
Select item 1610940	NM_033409.4(SLC52A3):c.432T>C (p.Gly144=)	SLC52A3	Single nucleotide variant (synonymous variant)	Brown-Vialetto-van Laere syndrome 1	GLikely benign

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