ClinVar for Gene (Select 10560) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362124	NM_006996.3(SLC19A2):c.812C>A (p.Pro271His)	SLC19A2 (P271H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3319020	NM_006996.3(SLC19A2):c.895T>A (p.Ser299Thr)	SLC19A2 (S299T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319019	NM_006996.3(SLC19A2):c.1267G>C (p.Val423Leu)	SLC19A2 (V423L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319018	NM_006996.3(SLC19A2):c.1201A>G (p.Met401Val)	SLC19A2 (M401V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319017	NM_006996.3(SLC19A2):c.346C>T (p.Leu116Phe)	SLC19A2 (L116F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3255578	NM_006996.3(SLC19A2):c.566_567delinsTCT (p.Ser189fs)	SLC19A2 (S189fs)	Indel (frameshift variant +1 more)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	GPathogenic
Select item 3253267	NM_006996.3(SLC19A2):c.1223C>T (p.Thr408Ile)	SLC19A2 (T207I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3247983	NC_000001.10:g.(?_169446833)_(169454047_?)del	SLC19A2	Deletion	not provided	GPathogenic
Select item 3247982	NC_000001.10:g.(?_169435087)_(169439444_?)del	SLC19A2	Deletion	not provided	GPathogenic
Select item 3247981	NC_000001.10:g.(?_169439182)_(169447015_?)del	SLC19A2	Deletion	not provided	GPathogenic
Select item 3163250	NM_006996.3(SLC19A2):c.216A>C (p.Glu72Asp)	SLC19A2 (E72D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3163249	NM_006996.3(SLC19A2):c.1121C>T (p.Ala374Val)	SLC19A2 (A374V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163248	NM_006996.3(SLC19A2):c.1072T>A (p.Trp358Arg)	SLC19A2 (W157R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063695	NM_006996.3(SLC19A2):c.1033G>A (p.Ala345Thr)	SLC19A2 (A144T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 3061961	NM_006996.3(SLC19A2):c.581C>T (p.Ser194Phe)	SLC19A2 (S194F)	Single nucleotide variant (missense variant +1 more)	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	GUncertain significance
Select item 3061654	NM_006996.3(SLC19A2):c.285C>T (p.Leu95=)	SLC19A2	Single nucleotide variant (synonymous variant +1 more)	SLC19A2-related disorder	GLikely benign
Select item 3057710	NM_006996.3(SLC19A2):c.1179T>C (p.Tyr393=)	SLC19A2	Single nucleotide variant (synonymous variant)	SLC19A2-related disorder	GLikely benign
Select item 3026154	NM_006996.3(SLC19A2):c.56T>C (p.Leu19Pro)	LOC129931894, SLC19A2 (L19P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3023887	NM_006996.3(SLC19A2):c.1223+17A>G	SLC19A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015513	NM_006996.3(SLC19A2):c.243C>T (p.Tyr81=)	SLC19A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3014133	NM_006996.3(SLC19A2):c.558G>A (p.Ser186=)	SLC19A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3013836	NM_006996.3(SLC19A2):c.1453C>T (p.Leu485=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009522	NM_006996.3(SLC19A2):c.1223+10_1223+19del	SLC19A2	Deletion (intron variant)	not provided	GLikely benign
Select item 3007799	NM_006996.3(SLC19A2):c.1200C>T (p.Tyr400=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006535	NM_006996.3(SLC19A2):c.1263C>A (p.Ala421=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006359	NM_006996.3(SLC19A2):c.1245C>A (p.Leu415=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006208	NM_006996.3(SLC19A2):c.253C>T (p.Leu85=)	SLC19A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3005884	NM_006996.3(SLC19A2):c.1365+15T>G	SLC19A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004648	NM_006996.3(SLC19A2):c.1176C>T (p.Ser392=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001726	NM_006996.3(SLC19A2):c.567C>T (p.Ser189=)	SLC19A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2999560	NM_006996.3(SLC19A2):c.369C>A (p.Ala123=)	SLC19A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2998660	NM_006996.3(SLC19A2):c.309G>T (p.Leu103=)	SLC19A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2993622	NM_006996.3(SLC19A2):c.429_432del (p.Tyr144fs)	SLC19A2 (Y144fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2992746	NM_006996.3(SLC19A2):c.18G>T (p.Pro6=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991286	NM_006996.3(SLC19A2):c.753G>A (p.Glu251=)	SLC19A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2990352	NM_006996.3(SLC19A2):c.1223+16C>T	SLC19A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988785	NM_006996.3(SLC19A2):c.1224-8T>C	SLC19A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988272	NM_006996.3(SLC19A2):c.405A>G (p.Thr135=)	SLC19A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2986726	NM_006996.3(SLC19A2):c.1030+8A>G	SLC19A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986421	NM_006996.3(SLC19A2):c.1308G>A (p.Thr436=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986393	NM_006996.3(SLC19A2):c.66C>T (p.Thr22=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983486	NM_006996.3(SLC19A2):c.1263C>T (p.Ala421=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981683	NM_006996.3(SLC19A2):c.205-9T>A	SLC19A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980586	NM_006996.3(SLC19A2):c.808-10T>G	SLC19A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977762	NM_006996.3(SLC19A2):c.205-26_205-20del	SLC19A2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2975467	NM_006996.3(SLC19A2):c.915T>C (p.Ser305=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975343	NM_006996.3(SLC19A2):c.291T>C (p.Tyr97=)	SLC19A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2975061	NM_006996.3(SLC19A2):c.205-19T>G	SLC19A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974979	NM_006996.3(SLC19A2):c.106C>T (p.Leu36=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974194	NM_006996.3(SLC19A2):c.1464A>G (p.Pro488=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973087	NM_006996.3(SLC19A2):c.75C>G (p.Val25=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971416	NM_006996.3(SLC19A2):c.272C>A (p.Ala91Asp)	SLC19A2 (A91D)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2970450	NM_006996.3(SLC19A2):c.1467A>G (p.Gln489=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968881	NM_006996.3(SLC19A2):c.204+11C>T	SLC19A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962826	NM_006996.3(SLC19A2):c.543A>T (p.Ser181=)	SLC19A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2962716	NM_006996.3(SLC19A2):c.1299A>T (p.Ala433=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962301	NM_006996.3(SLC19A2):c.258T>C (p.Phe86=)	SLC19A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2960070	NM_006996.3(SLC19A2):c.1209C>T (p.Leu403=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959155	NM_006996.3(SLC19A2):c.288T>C (p.Arg96=)	SLC19A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2959081	NM_006996.3(SLC19A2):c.1359C>T (p.Thr453=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958655	NM_006996.3(SLC19A2):c.81C>G (p.Arg27=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958310	NM_006996.3(SLC19A2):c.205-20T>G	SLC19A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958104	NM_006996.3(SLC19A2):c.1224-18C>T	SLC19A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956619	NM_006996.3(SLC19A2):c.204+16G>A	SLC19A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956402	NM_006996.3(SLC19A2):c.834A>G (p.Val278=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956361	NM_006996.3(SLC19A2):c.205-13dup	SLC19A2	Duplication (intron variant)	not provided	GLikely benign
Select item 2954682	NM_006996.3(SLC19A2):c.528G>T (p.Gly176=)	SLC19A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2919805	NM_006996.3(SLC19A2):c.891C>T (p.Cys297=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2919007	NM_006996.3(SLC19A2):c.1446T>C (p.Cys482=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2916285	NM_006996.3(SLC19A2):c.609T>C (p.Ala203=)	SLC19A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2906300	NM_006996.3(SLC19A2):c.924C>T (p.Gly308=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903326	NM_006996.3(SLC19A2):c.120C>T (p.Tyr40=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891931	NM_006996.3(SLC19A2):c.1005C>T (p.Gly335=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885658	NM_006996.3(SLC19A2):c.1366-4del	SLC19A2	Deletion (intron variant)	not provided	GLikely benign
Select item 2885578	NM_006996.3(SLC19A2):c.81C>T (p.Arg27=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883401	NM_006996.3(SLC19A2):c.808-6A>G	SLC19A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880379	NM_006996.3(SLC19A2):c.205-15T>C	SLC19A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877784	NM_006996.3(SLC19A2):c.921T>C (p.Cys307=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877440	NM_006996.3(SLC19A2):c.165G>A (p.Pro55=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875455	NM_006996.3(SLC19A2):c.1275T>C (p.Gly425=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874756	NM_006996.3(SLC19A2):c.1455G>A (p.Leu485=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873380	NM_006996.3(SLC19A2):c.1214C>G (p.Thr405Arg)	SLC19A2 (T204R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2868850	NM_006996.3(SLC19A2):c.1031-5T>C	SLC19A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2866438	NM_006996.3(SLC19A2):c.1476T>G (p.Ser492=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864078	NM_006996.3(SLC19A2):c.1155C>T (p.Asn385=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2861169	NM_006996.3(SLC19A2):c.102C>T (p.Thr34=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2861161	NM_006996.3(SLC19A2):c.831T>G (p.Leu277=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2859272	NM_006996.3(SLC19A2):c.391del (p.Tyr131fs)	SLC19A2 (Y131fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2856885	NM_006996.3(SLC19A2):c.147C>A (p.Ser49=)	LOC129931894, SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2855932	NM_006996.3(SLC19A2):c.556_557insTTGGT (p.Ser186fs)	SLC19A2 (S186fs)	Insertion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2854646	NM_006996.3(SLC19A2):c.148G>T (p.Glu50Ter)	LOC129931894, SLC19A2 (E50*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2854135	NM_006996.3(SLC19A2):c.807+18T>A	SLC19A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2853187	NM_006996.3(SLC19A2):c.954C>A (p.Gly318=)	SLC19A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2852249	NM_006996.3(SLC19A2):c.807+17A>C	SLC19A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2850936	NM_006996.3(SLC19A2):c.1365+7T>C	SLC19A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2849682	NM_006996.3(SLC19A2):c.1366-8C>T	SLC19A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2847633	NM_006996.3(SLC19A2):c.1031-10_1031-7del	SLC19A2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2847416	NM_006996.3(SLC19A2):c.1223+20G>C	SLC19A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2846261	NM_006996.3(SLC19A2):c.597del (p.Val200fs)	SLC19A2 (V200fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic

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