ClinVar for Gene (Select 6528) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3343968	NM_000453.3(SLC5A5):c.1499_1501delinsT (p.Pro500fs)	SLC5A5 (P500fs)	Indel (frameshift variant)	congenital hypothyreodism	GLikely pathogenic
Select item 3340049	NM_000453.3(SLC5A5):c.1417A>G (p.Met473Val)	SLC5A5 (M473V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339135	NM_000453.3(SLC5A5):c.52G>A (p.Gly18Arg)	SLC5A5 (G18R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320057	NM_000453.3(SLC5A5):c.1419G>A (p.Met473Ile)	SLC5A5 (M473I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320056	NM_000453.3(SLC5A5):c.224G>A (p.Gly75Asp)	SLC5A5 (G75D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3242653	NC_000019.9:g.(?_17985321)_(17991512_?)del	SLC5A5	Deletion	not provided	GPathogenic
Select item 3242652	NC_000019.9:g.(?_17986741)_(17994875_?)dup	SLC5A5	Duplication	not provided	GLikely pathogenic
Select item 3242651	NC_000019.9:g.(?_17992749)_(17999284_?)del	SLC5A5	Deletion	not provided	GPathogenic
Select item 3242650	NC_000019.9:g.(?_17991249)_(17994856_?)del	SLC5A5	Deletion	not provided	GPathogenic
Select item 3242649	NC_000019.9:g.(?_17991654)_(17991782_?)del	SLC5A5	Deletion	not provided	GPathogenic
Select item 3242648	NC_000019.9:g.(?_17984927)_(17985032_?)del	SLC5A5	Deletion	not provided	GPathogenic
Select item 3242647	NC_000019.9:g.(?_17999120)_(17999284_?)del	SLC5A5	Deletion	not provided	GPathogenic
Select item 3165261	NM_000453.3(SLC5A5):c.926A>G (p.Asp309Gly)	SLC5A5 (D309G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165260	NM_000453.3(SLC5A5):c.896G>A (p.Cys299Tyr)	SLC5A5 (C299Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165259	NM_000453.3(SLC5A5):c.683G>A (p.Arg228Gln)	SLC5A5 (R228Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165258	NM_000453.3(SLC5A5):c.67A>T (p.Met23Leu)	SLC5A5 (M23L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165257	NM_000453.3(SLC5A5):c.304G>T (p.Ala102Ser)	SLC5A5 (A102S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165256	NM_000453.3(SLC5A5):c.1706G>A (p.Arg569Gln)	SLC5A5 (R569Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165255	NM_000453.3(SLC5A5):c.1409A>G (p.Glu470Gly)	SLC5A5 (E470G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165254	NM_000453.3(SLC5A5):c.1310T>C (p.Leu437Pro)	SLC5A5 (L437P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165253	NM_000453.3(SLC5A5):c.1307T>G (p.Phe436Cys)	SLC5A5 (F436C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 3023810	NM_000453.3(SLC5A5):c.1059-18G>A	SLC5A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021235	NM_000453.3(SLC5A5):c.1171+11G>A	SLC5A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3020551	NM_000453.3(SLC5A5):c.476-19G>A	SLC5A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3020550	NM_000453.3(SLC5A5):c.476-20_476-19insCCTAAC	SLC5A5	Insertion (intron variant)	not provided	GBenign
Select item 3020333	NM_000453.3(SLC5A5):c.475+18del	SLC5A5	Deletion (intron variant)	not provided	GBenign
Select item 3020296	NM_000453.3(SLC5A5):c.1330-17G>T	SLC5A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3020139	NM_000453.3(SLC5A5):c.357+18G>T	SLC5A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3020088	NM_000453.3(SLC5A5):c.1182C>T (p.Tyr394=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019327	NM_000453.3(SLC5A5):c.1539C>T (p.Asp513=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016665	NM_000453.3(SLC5A5):c.1906C>A (p.Arg636=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015755	NM_000453.3(SLC5A5):c.1243-10A>G	SLC5A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014385	NM_000453.3(SLC5A5):c.1032G>A (p.Leu344=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013970	NM_000453.3(SLC5A5):c.510C>T (p.Ser170=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013964	NM_000453.3(SLC5A5):c.615C>A (p.Val205=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013067	NM_000453.3(SLC5A5):c.1581C>G (p.Ser527=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012750	NM_000453.3(SLC5A5):c.1768-6C>G	SLC5A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012036	NM_000453.3(SLC5A5):c.1171+12G>A	SLC5A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011728	NM_000453.3(SLC5A5):c.1653C>T (p.Gly551=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010189	NM_000453.3(SLC5A5):c.1050C>T (p.Gly350=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009851	NM_000453.3(SLC5A5):c.540T>A (p.Ala180=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008854	NM_000453.3(SLC5A5):c.1128G>A (p.Arg376=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008235	NM_000453.3(SLC5A5):c.1171+17C>T	SLC5A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007922	NM_000453.3(SLC5A5):c.1652-4T>C	SLC5A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007335	NM_000453.3(SLC5A5):c.1329+16dup	SLC5A5	Duplication (intron variant)	not provided	GBenign
Select item 3007282	NM_000453.3(SLC5A5):c.951C>T (p.Arg317=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007003	NM_000453.3(SLC5A5):c.144C>T (p.Phe48=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006938	NM_000453.3(SLC5A5):c.1254C>T (p.Thr418=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006717	NM_000453.3(SLC5A5):c.1572T>C (p.Tyr524=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006716	NM_000453.3(SLC5A5):c.1272C>T (p.Ser424=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005660	NM_000453.3(SLC5A5):c.213G>A (p.Val71=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004895	NM_000453.3(SLC5A5):c.585C>T (p.Val195=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004640	NM_000453.3(SLC5A5):c.1767+12G>A	SLC5A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004546	NM_000453.3(SLC5A5):c.840-14G>C	SLC5A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004270	NM_000453.3(SLC5A5):c.669C>T (p.Ala223=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004038	NM_000453.3(SLC5A5):c.1059-10C>T	SLC5A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002461	NM_000453.3(SLC5A5):c.237G>A (p.Glu79=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000681	NM_000453.3(SLC5A5):c.1340dup (p.Leu449fs)	SLC5A5 (L449fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2999335	NM_000453.3(SLC5A5):c.1243-15C>T	SLC5A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999134	NM_000453.3(SLC5A5):c.1021G>A (p.Gly341Arg)	SLC5A5 (G341R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2998877	NM_000453.3(SLC5A5):c.1020C>T (p.Pro340=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998316	NM_000453.3(SLC5A5):c.1239T>A (p.Leu413=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998178	NM_000453.3(SLC5A5):c.1731G>A (p.Lys577=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998097	NM_000453.3(SLC5A5):c.1171+17C>A	SLC5A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997946	NM_000453.3(SLC5A5):c.999C>T (p.Phe333=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997632	NM_000453.3(SLC5A5):c.1242+8C>G	SLC5A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996872	NM_000453.3(SLC5A5):c.1059-19C>T	SLC5A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996808	NM_000453.3(SLC5A5):c.1647G>A (p.Leu549=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994557	NM_000453.3(SLC5A5):c.357+14G>A	SLC5A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994294	NM_000453.3(SLC5A5):c.876C>T (p.Ile292=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994076	NM_000453.3(SLC5A5):c.1863G>A (p.Glu621=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993486	NM_000453.3(SLC5A5):c.969+19C>T	SLC5A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993452	NM_000453.3(SLC5A5):c.78G>A (p.Val26=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992212	NM_000453.3(SLC5A5):c.1330-14G>T	SLC5A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991892	NM_000453.3(SLC5A5):c.90C>T (p.Ile30=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991067	NM_000453.3(SLC5A5):c.747G>C (p.Val249=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990858	NM_000453.3(SLC5A5):c.1803C>T (p.Pro601=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990591	NM_000453.3(SLC5A5):c.1651+12G>C	SLC5A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989789	NM_000453.3(SLC5A5):c.1209C>G (p.Ala403=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989341	NM_000453.3(SLC5A5):c.1329+16G>A	SLC5A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988952	NM_000453.3(SLC5A5):c.424-13A>T	SLC5A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988300	NM_000453.3(SLC5A5):c.51C>T (p.Tyr17=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987343	NM_000453.3(SLC5A5):c.591G>T (p.Val197=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987319	NM_000453.3(SLC5A5):c.839+12G>A	SLC5A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987031	NM_000453.3(SLC5A5):c.1329+19A>G	SLC5A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987005	NM_000453.3(SLC5A5):c.1608G>A (p.Thr536=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986438	NM_000453.3(SLC5A5):c.660C>T (p.Leu220=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986052	NM_000453.3(SLC5A5):c.1651+14G>A	SLC5A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985937	NM_000453.3(SLC5A5):c.1449C>T (p.Cys483=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985792	NM_000453.3(SLC5A5):c.321C>G (p.Pro107=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985373	NM_000453.3(SLC5A5):c.603C>T (p.Gly201=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984680	NM_000453.3(SLC5A5):c.231G>A (p.Pro77=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984630	NM_000453.3(SLC5A5):c.1526+20G>T	SLC5A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984416	NM_000453.3(SLC5A5):c.1926C>T (p.Asn642=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984286	NM_000453.3(SLC5A5):c.1803C>A (p.Pro601=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983428	NM_000453.3(SLC5A5):c.1167G>T (p.Gly389=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982864	NM_000453.3(SLC5A5):c.1565del (p.Ser522fs)	SLC5A5 (S522fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2980937	NM_000453.3(SLC5A5):c.1431A>G (p.Pro477=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980656	NM_000453.3(SLC5A5):c.1017C>T (p.Val339=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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