"GeneDx"[submitter] AND "SLC19A3"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
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 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 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 specified +2 more	GConflicting classifications of pathogenicity
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 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 1059813	NM_025243.4(SLC19A3):c.1409T>G (p.Val470Gly)	SLC19A3 (V466G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 464952	NM_025243.4(SLC19A3):c.1370G>A (p.Ser457Asn)	SLC19A3 (S457N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 748020	NM_025243.4(SLC19A3):c.1343T>C (p.Val448Ala)	SLC19A3 (V444A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 655252	NM_025243.4(SLC19A3):c.1339G>A (p.Ala447Thr)	SLC19A3 (A447T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 215158	NM_025243.4(SLC19A3):c.1332C>G (p.Ser444Arg)	SLC19A3 (S444R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1216242	NM_025243.4(SLC19A3):c.1315-64G>A	SLC19A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676328	NM_025243.4(SLC19A3):c.1315-123C>T	SLC19A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683861	NM_025243.4(SLC19A3):c.1314+173G>A	SLC19A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676327	NM_025243.4(SLC19A3):c.1314+121C>A	SLC19A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 265591	NM_025243.4(SLC19A3):c.1314+1G>A	SLC19A3	Single nucleotide variant (splice donor variant)	Biotin-responsive basal ganglia disease +1 more	GConflicting classifications of pathogenicity
Select item 4563	NM_025243.4(SLC19A3):c.1264A>G (p.Thr422Ala)	SLC19A3 (T422A)	Single nucleotide variant (missense variant)	Thiamine metabolism dysfunction syndrome 2 (biotin/thiamine-responsive basal ganglia disease type) +3 more	GPathogenic
Select item 421399	NM_025243.4(SLC19A3):c.1253A>G (p.Gln418Arg)	SLC19A3 (Q418R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 372581	NM_025243.4(SLC19A3):c.1252C>G (p.Gln418Glu)	SLC19A3 (Q418E)	Single nucleotide variant (missense variant)	Biotin-responsive basal ganglia disease +2 more	GConflicting classifications of pathogenicity
Select item 427109	NM_025243.4(SLC19A3):c.1228A>C (p.Asn410His)	SLC19A3 (N410H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1017867	NM_025243.4(SLC19A3):c.1215G>T (p.Leu405Phe)	SLC19A3 (L401F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1022704	NM_025243.4(SLC19A3):c.1204C>G (p.Arg402Gly)	SLC19A3 (R398G +1 more)	Single nucleotide variant (missense variant)	Biotin-responsive basal ganglia disease +2 more	GUncertain significance
Select item 771249	NM_025243.4(SLC19A3):c.1204C>T (p.Arg402Cys)	SLC19A3 (R402C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 673652	NM_025243.4(SLC19A3):c.1173-47C>T	SLC19A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673776	NM_025243.4(SLC19A3):c.1172+273_1172+277del	SLC19A3	Deletion (intron variant)	not provided	GBenign
Select item 673255	NM_025243.4(SLC19A3):c.1172+273A>G	SLC19A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200447	NM_025243.4(SLC19A3):c.1172+227A>G	SLC19A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673775	NM_025243.4(SLC19A3):c.1172+209A>G	SLC19A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673774	NM_025243.4(SLC19A3):c.1172+196A>T	SLC19A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 392599	NM_025243.4(SLC19A3):c.1148A>G (p.Tyr383Cys)	SLC19A3 (Y383C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 288883	NM_025243.4(SLC19A3):c.1145G>A (p.Ser382Asn)	SLC19A3 (S382N)	Single nucleotide variant (missense variant)	Biotin-responsive basal ganglia disease +1 more	GConflicting classifications of pathogenicity
Select item 334878	NM_025243.4(SLC19A3):c.1132A>G (p.Ile378Val)	SLC19A3 (I378V)	Single nucleotide variant (missense variant)	Biotin-responsive basal ganglia disease +1 more	GBenign/Likely benign
Select item 429582	NM_025243.4(SLC19A3):c.1118A>G (p.Tyr373Cys)	SLC19A3 (Y373C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 215156	NM_025243.4(SLC19A3):c.1112C>T (p.Ala371Val)	SLC19A3 (A371V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3367977	NM_025243.4(SLC19A3):c.1052T>A (p.Val351Asp)	SLC19A3 (V347D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 130320	NM_025243.4(SLC19A3):c.1049T>C (p.Val350Ala)	SLC19A3 (V350A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 568914	NM_025243.4(SLC19A3):c.1024G>A (p.Asp342Asn)	SLC19A3 (D342N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 749753	NM_025243.4(SLC19A3):c.987G>A (p.Val329=)	SLC19A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1208061	NM_025243.4(SLC19A3):c.980G>A (p.Gly327Glu)	SLC19A3 (G323E +1 more)	Single nucleotide variant (missense variant)	Biotin-responsive basal ganglia disease +1 more	GUncertain significance
Select item 215155	NM_025243.4(SLC19A3):c.980-4del	SLC19A3	Deletion (intron variant)	not provided +3 more	GBenign
Select item 446038	NM_025243.4(SLC19A3):c.980-14A>G	SLC19A3	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1179644	NM_025243.4(SLC19A3):c.980-40dup	SLC19A3	Duplication (intron variant)	not provided +1 more	GBenign
Select item 1201832	NM_025243.4(SLC19A3):c.980-46G>T	SLC19A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673773	NM_025243.4(SLC19A3):c.980-205G>A	SLC19A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673772	NM_025243.4(SLC19A3):c.980-235G>A	SLC19A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674165	NM_025243.4(SLC19A3):c.980-246G>A	SLC19A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205201	NM_025243.4(SLC19A3):c.979+292G>A	SLC19A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673771	NM_025243.4(SLC19A3):c.979+279_979+282del	SLC19A3	Microsatellite (intron variant)	not provided	GBenign
Select item 683859	NM_025243.4(SLC19A3):c.979+213G>A	SLC19A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673254	NM_025243.4(SLC19A3):c.979+182A>G	SLC19A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676760	NM_025243.4(SLC19A3):c.979+105G>A	SLC19A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676326	NM_025243.4(SLC19A3):c.979+93G>A	SLC19A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673705	NM_025243.4(SLC19A3):c.979+42G>C	SLC19A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 215154	NM_025243.4(SLC19A3):c.979+19A>G	SLC19A3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 512110	NM_025243.4(SLC19A3):c.979+15C>T	SLC19A3	Single nucleotide variant (intron variant)	Biotin-responsive basal ganglia disease +1 more	GLikely benign
Select item 508377	NM_025243.4(SLC19A3):c.979+9A>G	SLC19A3	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 334879	NM_025243.4(SLC19A3):c.977G>T (p.Gly326Val)	SLC19A3 (G326V)	Single nucleotide variant (missense variant)	Biotin-responsive basal ganglia disease +2 more	GUncertain significance
Select item 512237	NM_025243.4(SLC19A3):c.957A>G (p.Val319=)	SLC19A3	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1479652	NM_025243.4(SLC19A3):c.955G>A (p.Val319Ile)	SLC19A3 (V319I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 817638	NM_025243.4(SLC19A3):c.895_925del (p.Val299fs)	SLC19A3 (V295fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 464955	NM_025243.4(SLC19A3):c.914A>G (p.Tyr305Cys)	SLC19A3 (Y305C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 215157	NM_025243.4(SLC19A3):c.865A>G (p.Thr289Ala)	SLC19A3 (T289A)	Single nucleotide variant (missense variant)	Biotin-responsive basal ganglia disease +1 more	GUncertain significance
Select item 944205	NM_025243.4(SLC19A3):c.862G>C (p.Ala288Pro)	SLC19A3 (A284P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 281501	NM_025243.4(SLC19A3):c.801A>G (p.Gln267=)	SLC19A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 139124	NM_025243.4(SLC19A3):c.756G>A (p.Leu252=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease +2 more	GBenign
Select item 3367836	NM_025243.4(SLC19A3):c.752G>T (p.Ser251Ile)	SLC19A3 (S247I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803635	NM_025243.4(SLC19A3):c.718A>C (p.Thr240Pro)	SLC19A3 (T236P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 464954	NM_025243.4(SLC19A3):c.697C>G (p.Pro233Ala)	SLC19A3 (P233A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 215153	NM_025243.4(SLC19A3):c.662A>C (p.His221Pro)	SLC19A3 (H221P)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1220169	NM_025243.4(SLC19A3):c.624G>T (p.Lys208Asn)	SLC19A3 (K204N +1 more)	Single nucleotide variant (missense variant)	Biotin-responsive basal ganglia disease +1 more	GConflicting classifications of pathogenicity
Select item 334880	NM_025243.4(SLC19A3):c.613A>G (p.Arg205Gly)	SLC19A3 (R205G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 658961	NM_025243.4(SLC19A3):c.611G>A (p.Ser204Asn)	SLC19A3 (S204N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 533549	NM_025243.4(SLC19A3):c.597dup (p.His200fs)	SLC19A3 (H200fs)	Duplication (frameshift variant)	Biotin-responsive basal ganglia disease +1 more	GPathogenic/Likely pathogenic
Select item 596366	NM_025243.4(SLC19A3):c.562C>G (p.Leu188Val)	SLC19A3 (L188V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 215151	NM_025243.4(SLC19A3):c.557T>C (p.Phe186Ser)	SLC19A3 (F186S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1326413	NM_025243.4(SLC19A3):c.555T>C (p.Leu185=)	SLC19A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 130325	NM_025243.4(SLC19A3):c.549T>C (p.Ala183=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease +2 more	GBenign
Select item 196528	NM_025243.4(SLC19A3):c.546G>A (p.Val182=)	SLC19A3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 130324	NM_025243.4(SLC19A3):c.520G>A (p.Val174Ile)	SLC19A3 (V174I)	Single nucleotide variant (missense variant)	Biotin-responsive basal ganglia disease +2 more	GBenign
Select item 420629	NM_025243.4(SLC19A3):c.503_505del (p.Ser168del)	SLC19A3 (S168del)	Deletion (inframe_deletion)	Biotin-responsive basal ganglia disease +1 more	GConflicting classifications of pathogenicity
Select item 1304222	NM_025243.4(SLC19A3):c.500T>A (p.Met167Lys)	SLC19A3 (M163K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310762	NM_025243.4(SLC19A3):c.488C>T (p.Ser163Phe)	SLC19A3 (S159F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 429581	NM_025243.4(SLC19A3):c.488C>A (p.Ser163Tyr)	SLC19A3 (S163Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 973536	NM_025243.4(SLC19A3):c.482_483del (p.Leu161fs)	SLC19A3 (L157fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3343364	NM_025243.4(SLC19A3):c.479T>C (p.Leu160Pro)	SLC19A3 (L156P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1310763	NM_025243.4(SLC19A3):c.472G>A (p.Ala158Thr)	SLC19A3 (A154T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 429823	NM_025243.4(SLC19A3):c.464C>T (p.Ser155Leu)	SLC19A3 (S155L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 464953	NM_025243.4(SLC19A3):c.461G>A (p.Gly154Glu)	SLC19A3 (G154E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1064368	NM_025243.4(SLC19A3):c.448G>A (p.Ala150Thr)	SLC19A3 (A146T +1 more)	Single nucleotide variant (missense variant)	Biotin-responsive basal ganglia disease +1 more	GUncertain significance
Select item 533544	NM_025243.4(SLC19A3):c.436G>A (p.Val146Ile)	SLC19A3 (V146I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 130323	NM_025243.4(SLC19A3):c.435C>T (p.Ser145=)	SLC19A3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 139123	NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser)	SLC19A3 (G141S)	Single nucleotide variant (missense variant)	Biotin-responsive basal ganglia disease +2 more	GBenign/Likely benign
Select item 1065451	NM_025243.4(SLC19A3):c.416T>A (p.Val139Glu)	SLC19A3 (V135E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 290414	NM_025243.4(SLC19A3):c.399C>G (p.Pro133=)	SLC19A3	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 334882	NM_025243.4(SLC19A3):c.390G>T (p.Val130=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease +1 more	GConflicting classifications of pathogenicity
Select item 383065	NM_025243.4(SLC19A3):c.387C>T (p.Ser129=)	SLC19A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 861003	NM_025243.4(SLC19A3):c.373G>A (p.Ala125Thr)	SLC19A3 (A125T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1302649	NM_025243.4(SLC19A3):c.355G>T (p.Ala119Ser)	SLC19A3 (A115S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 809183	NM_025243.4(SLC19A3):c.355G>A (p.Ala119Thr)	SLC19A3 (A115T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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