SLC19A3[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 896536	NM_025243.4(SLC19A3):c.*2159G>A	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334829	NM_025243.4(SLC19A3):c.*2139G>A	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334831	NM_025243.4(SLC19A3):c.2130_2132delinsCGC	SLC19A3	Indel (3 prime UTR variant)	Thiamine Metabolism Dysfunction Syndrome	GUncertain significance
Select item 334830	NM_025243.4(SLC19A3):c.*2132T>C	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease +1 more	GBenign
Select item 334832	NM_025243.4(SLC19A3):c.*2130T>C	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease +1 more	GBenign
Select item 334833	NM_025243.4(SLC19A3):c.*2129A>G	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334834	NM_025243.4(SLC19A3):c.*2109C>T	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease +1 more	GBenign
Select item 334835	NM_025243.4(SLC19A3):c.*2104T>C	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GBenign
Select item 898158	NM_025243.4(SLC19A3):c.*2050C>T	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334836	NM_025243.4(SLC19A3):c.*2033A>G	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334837	NM_025243.4(SLC19A3):c.*1996T>C	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease +1 more	GBenign
Select item 899258	NM_025243.4(SLC19A3):c.*1995G>A	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 334838	NM_025243.4(SLC19A3):c.*1974G>T	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease +1 more	GBenign
Select item 334839	NM_025243.4(SLC19A3):c.*1963C>T	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease +1 more	GBenign
Select item 334840	NM_025243.4(SLC19A3):c.*1953G>A	SLC19A3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 334841	NM_025243.4(SLC19A3):c.*1925A>G	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GBenign
Select item 899259	NM_025243.4(SLC19A3):c.*1905G>A	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 899260	NM_025243.4(SLC19A3):c.*1889T>C	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 895163	NM_025243.4(SLC19A3):c.*1859C>T	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 895164	NM_025243.4(SLC19A3):c.*1842T>A	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334842	NM_025243.4(SLC19A3):c.*1839G>A	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease +1 more	GBenign
Select item 334843	NM_025243.4(SLC19A3):c.*1818T>A	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334844	NM_025243.4(SLC19A3):c.*1815A>C	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Thiamine Metabolism Dysfunction Syndrome +2 more	GBenign
Select item 334845	NM_025243.4(SLC19A3):c.*1813A>G	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Thiamine Metabolism Dysfunction Syndrome +2 more	GBenign
Select item 895165	NM_025243.4(SLC19A3):c.*1800C>T	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease +1 more	GBenign
Select item 334846	NM_025243.4(SLC19A3):c.*1792C>T	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GBenign
Select item 334847	NM_025243.4(SLC19A3):c.*1740G>C	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease +1 more	GBenign
Select item 334848	NM_025243.4(SLC19A3):c.*1696G>T	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GBenign
Select item 334849	NM_025243.4(SLC19A3):c.*1684A>G	SLC19A3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 896582	NM_025243.4(SLC19A3):c.*1630G>T	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334850	NM_025243.4(SLC19A3):c.*1517T>C	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 896583	NM_025243.4(SLC19A3):c.*1463G>A	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334851	NM_025243.4(SLC19A3):c.*1427T>C	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease +1 more	GBenign
Select item 896584	NM_025243.4(SLC19A3):c.*1355G>A	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334852	NM_025243.4(SLC19A3):c.*1339C>T	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334853	NM_025243.4(SLC19A3):c.*1320C>T	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 898210	NM_025243.4(SLC19A3):c.*1264A>G	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 898211	NM_025243.4(SLC19A3):c.*1256C>T	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 898212	NM_025243.4(SLC19A3):c.*1207C>T	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334854	NM_025243.4(SLC19A3):c.*1121G>A	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334855	NM_025243.4(SLC19A3):c.*1104T>C	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 898213	NM_025243.4(SLC19A3):c.*1094C>T	SLC19A3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 334856	NM_025243.4(SLC19A3):c.*1090G>A	SLC19A3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 334857	NM_025243.4(SLC19A3):c.*1072A>C	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334858	NM_025243.4(SLC19A3):c.*1059C>G	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 899316	NM_025243.4(SLC19A3):c.*1044G>A	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334859	NM_025243.4(SLC19A3):c.*1003G>T	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334860	NM_025243.4(SLC19A3):c.*1000A>G	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease +1 more	GBenign
Select item 334861	NM_025243.4(SLC19A3):c.*977del	SLC19A3	Deletion (3 prime UTR variant)	Thiamine Metabolism Dysfunction Syndrome	GUncertain significance
Select item 899317	NM_025243.4(SLC19A3):c.*975G>T	SLC19A3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 899318	NM_025243.4(SLC19A3):c.*924C>T	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334862	NM_025243.4(SLC19A3):c.*803G>A	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GBenign
Select item 334863	NM_025243.4(SLC19A3):c.*778G>C	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 895227	NM_025243.4(SLC19A3):c.*713C>T	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334864	NM_025243.4(SLC19A3):c.*685G>A	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334865	NM_025243.4(SLC19A3):c.*591ATT[2]	SLC19A3	Microsatellite (3 prime UTR variant)	Thiamine Metabolism Dysfunction Syndrome	GUncertain significance
Select item 334866	NM_025243.4(SLC19A3):c.*575G>A	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 895228	NM_025243.4(SLC19A3):c.*570T>A	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334867	NM_025243.4(SLC19A3):c.*506C>T	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GBenign
Select item 334868	NM_025243.4(SLC19A3):c.*499C>T	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 334869	NM_025243.4(SLC19A3):c.*348A>C	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 334870	NM_025243.4(SLC19A3):c.*300G>A	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 896655	NM_025243.4(SLC19A3):c.*289A>G	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334871	NM_025243.4(SLC19A3):c.*231G>A	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease +1 more	GLikely benign
Select item 334872	NM_025243.4(SLC19A3):c.*204G>A	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334873	NM_025243.4(SLC19A3):c.*203C>T	SLC19A3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 334874	NM_025243.4(SLC19A3):c.*176A>G	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 896656	NM_025243.4(SLC19A3):c.*115C>G	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GBenign
Select item 334875	NM_025243.4(SLC19A3):c.*106A>G	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 897117	NM_025243.4(SLC19A3):c.*103C>A	SLC19A3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 897118	NM_025243.4(SLC19A3):c.*59T>C	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334876	NM_025243.4(SLC19A3):c.*33A>G	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 464951	NC_000002.11:g.(?_228552093)_(228567054_?)dup	SLC19A3	Duplication	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 805463	NM_025243.4(SLC19A3):c.*8G>T	SLC19A3	Single nucleotide variant (3 prime UTR variant)	not provided	GConflicting classifications of pathogenicity
Select item 198267	NM_025243.4(SLC19A3):c.*8G>A	SLC19A3	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2809555	NM_025243.4(SLC19A3):c.1488C>T (p.Leu496=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 835365	NM_025243.4(SLC19A3):c.1475_1482dup (p.Lys495fs)	SLC19A3 (K495fs +1 more)	Duplication (frameshift variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 2753193	NM_025243.4(SLC19A3):c.1482A>C (p.Thr494=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2261954	NM_025243.4(SLC19A3):c.1480A>G (p.Thr494Ala)	SLC19A3 (T494A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1524657	NM_025243.4(SLC19A3):c.1476G>C (p.Met492Ile)	SLC19A3 (M492I +1 more)	Single nucleotide variant (missense variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 1104468	NM_025243.4(SLC19A3):c.1467T>C (p.Asn489=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2112212	NM_025243.4(SLC19A3):c.1464T>C (p.Ser488=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 841842	NM_025243.4(SLC19A3):c.1463G>C (p.Ser488Thr)	SLC19A3 (S484T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1617836	NM_025243.4(SLC19A3):c.1461G>A (p.Glu487=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 1434945	NM_025243.4(SLC19A3):c.1457A>G (p.Glu486Gly)	SLC19A3 (E486G +1 more)	Single nucleotide variant (missense variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 652148	NM_025243.4(SLC19A3):c.1451C>T (p.Pro484Leu)	SLC19A3 (P484L)	Single nucleotide variant (missense variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 759422	NM_025243.4(SLC19A3):c.1449C>T (p.His483=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 647857	NM_025243.4(SLC19A3):c.1448A>G (p.His483Arg)	SLC19A3 (H483R)	Single nucleotide variant (missense variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 2150795	NM_025243.4(SLC19A3):c.1444_1445delinsCT (p.Ser482Leu)	SLC19A3 (S482L +1 more)	Indel (missense variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 1410192	NM_025243.4(SLC19A3):c.1443_1444del (p.His483fs)	SLC19A3 (H479fs +1 more)	Microsatellite (frameshift variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334877	NM_025243.4(SLC19A3):c.1442T>C (p.Val481Ala)	SLC19A3 (V481A)	Single nucleotide variant (missense variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 856582	NM_025243.4(SLC19A3):c.1441G>A (p.Val481Met)	SLC19A3 (V477M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1562422	NM_025243.4(SLC19A3):c.1440T>C (p.Asp480=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 847118	NM_025243.4(SLC19A3):c.1439A>G (p.Asp480Gly)	SLC19A3 (D480G +1 more)	Single nucleotide variant (missense variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 2858678	NM_025243.4(SLC19A3):c.1425A>G (p.Pro475=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2043335	NM_025243.4(SLC19A3):c.1425A>C (p.Pro475=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 898281	NM_025243.4(SLC19A3):c.1412A>G (p.Gln471Arg)	SLC19A3 (Q471R +1 more)	Single nucleotide variant (missense variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 2784414	NM_025243.4(SLC19A3):c.1410A>T (p.Val470=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 1059813	NM_025243.4(SLC19A3):c.1409T>G (p.Val470Gly)	SLC19A3 (V466G +1 more)	Single nucleotide variant (missense variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 2864248	NM_025243.4(SLC19A3):c.1407T>C (p.Asp469=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign

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