ClinVar for Gene (Select 80704) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247244	NC_000002.11:g.(?_228552862)_(228553043_?)del	SLC19A3	Deletion	Biotin-responsive basal ganglia disease	GPathogenic
Select item 3247243	NC_000002.11:g.(?_228566865)_(228567034_?)del	SLC19A3	Deletion	Biotin-responsive basal ganglia disease	GPathogenic
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3069169	NM_025243.4(SLC19A3):c.696del (p.Lys232fs)	SLC19A3 (K228fs +1 more)	Deletion (frameshift variant)	Biotin-responsive basal ganglia disease	GPathogenic
Select item 3065708	NM_025243.4(SLC19A3):c.191dup (p.Val65fs)	SLC19A3 (V61fs +1 more)	Duplication (frameshift variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 3064540	NM_025243.4(SLC19A3):c.137T>C (p.Leu46Pro)	SLC19A3 (L46P)	Single nucleotide variant (missense variant +1 more)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 3064134	NM_025243.4(SLC19A3):c.1264A>C (p.Thr422Pro)	SLC19A3 (T418P +1 more)	Single nucleotide variant (missense variant)	Biotin-responsive basal ganglia disease	GLikely pathogenic
Select item 3033872	NM_025243.4(SLC19A3):c.1341A>G (p.Ala447=)	SLC19A3	Single nucleotide variant (synonymous variant)	SLC19A3-related disorder	GLikely benign
Select item 3022043	NM_025243.4(SLC19A3):c.636C>T (p.Ser212=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 3019705	NM_025243.4(SLC19A3):c.180A>G (p.Thr60=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 3017037	NM_025243.4(SLC19A3):c.979+11G>A	SLC19A3	Single nucleotide variant (intron variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 3016813	NM_025243.4(SLC19A3):c.663C>T (p.His221=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 3014543	NM_025243.4(SLC19A3):c.447C>T (p.Ala149=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 3014359	NM_025243.4(SLC19A3):c.534C>A (p.Ala178=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 3008713	NM_025243.4(SLC19A3):c.1173-6T>C	SLC19A3	Single nucleotide variant (intron variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 3001030	NM_025243.4(SLC19A3):c.150+15A>G	SLC19A3	Single nucleotide variant (intron variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2993597	NM_025243.4(SLC19A3):c.979+10T>C	SLC19A3	Single nucleotide variant (intron variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2984524	NM_025243.4(SLC19A3):c.253T>C (p.Leu85=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2983964	NM_025243.4(SLC19A3):c.69T>C (p.Gly23=)	SLC19A3	Single nucleotide variant (synonymous variant +1 more)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2982988	NM_025243.4(SLC19A3):c.942C>A (p.Ile314=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2968846	NM_025243.4(SLC19A3):c.378C>T (p.Tyr126=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2956872	NM_025243.4(SLC19A3):c.510T>C (p.Phe170=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2956129	NM_025243.4(SLC19A3):c.198G>A (p.Leu66=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2917962	NM_025243.4(SLC19A3):c.597del (p.His200fs)	SLC19A3 (H200fs +1 more)	Deletion (frameshift variant)	Biotin-responsive basal ganglia disease	GPathogenic
Select item 2914913	NM_025243.4(SLC19A3):c.921G>A (p.Ala307=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2913685	NM_025243.4(SLC19A3):c.1173-12G>A	SLC19A3	Single nucleotide variant (intron variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2906033	NM_025243.4(SLC19A3):c.330G>A (p.Glu110=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2905252	NM_025243.4(SLC19A3):c.980-14A>T	SLC19A3	Single nucleotide variant (intron variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2895138	NM_025243.4(SLC19A3):c.324T>C (p.Val108=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2891636	NM_025243.4(SLC19A3):c.1297T>C (p.Leu433=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2888686	NM_025243.4(SLC19A3):c.183C>T (p.Tyr61=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2886346	NM_025243.4(SLC19A3):c.1173-14A>G	SLC19A3	Single nucleotide variant (intron variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2882256	NM_025243.4(SLC19A3):c.972C>T (p.Thr324=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2881905	NM_025243.4(SLC19A3):c.980-5_980-4del	SLC19A3	Deletion (intron variant)	Biotin-responsive basal ganglia disease	GBenign
Select item 2875146	NM_025243.4(SLC19A3):c.1172+14A>G	SLC19A3	Single nucleotide variant (intron variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2868792	NM_025243.4(SLC19A3):c.210G>A (p.Val70=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2866751	NM_025243.4(SLC19A3):c.186C>G (p.Ser62=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2865969	NM_025243.4(SLC19A3):c.486A>G (p.Val162=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2864746	NM_025243.4(SLC19A3):c.354C>T (p.Ala118=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2864603	NM_025243.4(SLC19A3):c.754C>T (p.Leu252=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2864396	NM_025243.4(SLC19A3):c.1131G>A (p.Leu377=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
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
Select item 2861425	NM_025243.4(SLC19A3):c.552C>T (p.Phe184=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2859471	NM_025243.4(SLC19A3):c.701del (p.Thr234fs)	SLC19A3 (T234fs +1 more)	Deletion (frameshift variant)	Biotin-responsive basal ganglia disease	GPathogenic
Select item 2859334	NM_025243.4(SLC19A3):c.1347T>C (p.Ile449=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
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 2854191	NM_025243.4(SLC19A3):c.21A>T (p.Ser7=)	SLC19A3	Single nucleotide variant (synonymous variant +1 more)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2852367	NM_025243.4(SLC19A3):c.765C>T (p.Ser255=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2851676	NM_025243.4(SLC19A3):c.730C>T (p.Leu244=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2851276	NM_025243.4(SLC19A3):c.1302A>G (p.Pro434=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2850471	NM_025243.4(SLC19A3):c.981G>T (p.Gly327=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2847316	NM_025243.4(SLC19A3):c.306A>C (p.Gly102=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2847124	NM_025243.4(SLC19A3):c.894T>C (p.Tyr298=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2840270	NM_025243.4(SLC19A3):c.475C>T (p.Gln159Ter)	SLC19A3 (Q155* +1 more)	Single nucleotide variant (nonsense)	Biotin-responsive basal ganglia disease	GPathogenic
Select item 2840050	NM_025243.4(SLC19A3):c.177G>A (p.Trp59Ter)	SLC19A3 (W59* +1 more)	Single nucleotide variant (nonsense)	Biotin-responsive basal ganglia disease	GPathogenic
Select item 2839926	NM_025243.4(SLC19A3):c.63A>G (p.Leu21=)	SLC19A3	Single nucleotide variant (5 prime UTR variant +1 more)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2836622	NM_025243.4(SLC19A3):c.906G>C (p.Leu302=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2836128	NM_025243.4(SLC19A3):c.1212dup (p.Val406fs)	SLC19A3 (V406fs +1 more)	Duplication (frameshift variant)	Biotin-responsive basal ganglia disease	GPathogenic
Select item 2832768	NM_025243.4(SLC19A3):c.856del (p.Ala286fs)	SLC19A3 (A286fs +1 more)	Deletion (frameshift variant)	Biotin-responsive basal ganglia disease	GPathogenic
Select item 2829287	NM_025243.4(SLC19A3):c.243A>G (p.Pro81=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2829147	NM_025243.4(SLC19A3):c.1236T>C (p.Phe412=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2829130	NM_025243.4(SLC19A3):c.1053C>T (p.Val351=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2828793	NM_025243.4(SLC19A3):c.111A>G (p.Pro37=)	SLC19A3	Single nucleotide variant (5 prime UTR variant +1 more)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2825638	NM_025243.4(SLC19A3):c.786T>C (p.Phe262=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2824259	NM_025243.4(SLC19A3):c.129dup (p.Lys44Ter)	SLC19A3 (K44*)	Duplication (nonsense +1 more)	Biotin-responsive basal ganglia disease	GPathogenic
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 2809466	NM_025243.4(SLC19A3):c.1314+7T>C	SLC19A3	Single nucleotide variant (intron variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2808220	NM_025243.4(SLC19A3):c.102C>T (p.Phe34=)	SLC19A3	Single nucleotide variant (synonymous variant +1 more)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2803060	NM_025243.4(SLC19A3):c.870A>C (p.Ala290=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2802877	NM_025243.4(SLC19A3):c.980-15A>G	SLC19A3	Single nucleotide variant (intron variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2795767	NM_025243.4(SLC19A3):c.968C>G (p.Ala323Gly)	SLC19A3 (A319G +1 more)	Single nucleotide variant (missense variant)	Biotin-responsive basal ganglia disease	GBenign
Select item 2790964	NM_025243.4(SLC19A3):c.1315-16A>G	SLC19A3	Single nucleotide variant (intron variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2786935	NM_025243.4(SLC19A3):c.564T>C (p.Leu188=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
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 2780017	NM_025243.4(SLC19A3):c.816C>A (p.Cys272Ter)	SLC19A3 (C268* +1 more)	Single nucleotide variant (nonsense)	Biotin-responsive basal ganglia disease	GPathogenic
Select item 2771458	NM_025243.4(SLC19A3):c.1392C>A (p.Thr464=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2770040	NM_025243.4(SLC19A3):c.979+8A>C	SLC19A3	Single nucleotide variant (intron variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2769465	NM_025243.4(SLC19A3):c.705A>G (p.Ser235=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2768994	NM_025243.4(SLC19A3):c.849A>C (p.Leu283=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2768236	NM_025243.4(SLC19A3):c.1020C>T (p.Asn340=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2768019	NM_025243.4(SLC19A3):c.513C>A (p.Tyr171Ter)	SLC19A3 (Y167* +1 more)	Single nucleotide variant (nonsense)	Biotin-responsive basal ganglia disease	GPathogenic
Select item 2767763	NM_025243.4(SLC19A3):c.117A>G (p.Leu39=)	SLC19A3	Single nucleotide variant (synonymous variant +1 more)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2765688	NM_025243.4(SLC19A3):c.150+11A>G	SLC19A3	Single nucleotide variant (intron variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2762268	NM_025243.4(SLC19A3):c.125dup (p.Asp43fs)	SLC19A3 (D43fs)	Duplication (frameshift variant +1 more)	Biotin-responsive basal ganglia disease	GPathogenic
Select item 2760607	NM_025243.4(SLC19A3):c.1173-1G>A	SLC19A3	Single nucleotide variant (splice acceptor variant)	Biotin-responsive basal ganglia disease	GLikely pathogenic
Select item 2759308	NM_025243.4(SLC19A3):c.1129T>C (p.Leu377=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2759263	NM_025243.4(SLC19A3):c.12C>G (p.Tyr4Ter)	SLC19A3 (Y4*)	Single nucleotide variant (nonsense +1 more)	Biotin-responsive basal ganglia disease	GPathogenic
Select item 2755463	NM_025243.4(SLC19A3):c.1335T>C (p.Tyr445=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2755264	NM_025243.4(SLC19A3):c.1315-14T>C	SLC19A3	Single nucleotide variant (intron variant)	Biotin-responsive basal ganglia disease	GLikely benign
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 2751488	NM_025243.4(SLC19A3):c.980-21_980-17dup	SLC19A3	Duplication (intron variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2751372	NM_025243.4(SLC19A3):c.190C>T (p.Leu64=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2748391	NM_025243.4(SLC19A3):c.1197T>C (p.Asn399=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2747625	NM_025243.4(SLC19A3):c.1173-8A>G	SLC19A3	Single nucleotide variant (intron variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2745932	NM_025243.4(SLC19A3):c.771G>C (p.Val257=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2745148	NM_025243.4(SLC19A3):c.456A>G (p.Thr152=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2737946	NM_025243.4(SLC19A3):c.45C>G (p.Pro15=)	SLC19A3	Single nucleotide variant (synonymous variant +1 more)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2734426	NM_025243.4(SLC19A3):c.507C>G (p.Tyr169Ter)	SLC19A3 (Y165* +1 more)	Single nucleotide variant (nonsense)	Biotin-responsive basal ganglia disease	GPathogenic
Select item 2733349	NM_025243.4(SLC19A3):c.980-10T>G	SLC19A3	Single nucleotide variant (intron variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 2733013	NM_025243.4(SLC19A3):c.732G>A (p.Leu244=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GLikely benign

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