ClinVar for MedGen (Select 336422) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2444146	NM_000453.3(SLC5A5):c.1546C>T (p.Arg516Ter)	SLC5A5 (R516*)	Single nucleotide variant (nonsense)	Thyroid dyshormonogenesis 1	GPathogenic
Select item 1335333	NM_000453.3(SLC5A5):c.1789G>A (p.Gly597Arg)	SLC5A5 (G597R)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 1 +1 more	GUncertain significance
Select item 1222858	NM_000453.3(SLC5A5):c.1767+29A>G	SLC5A5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 983277	NM_000453.3(SLC5A5):c.1261G>A (p.Gly421Arg)	SLC5A5 (G421R)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 1	GPathogenic
Select item 983276	NM_000453.3(SLC5A5):c.152del (p.Gly51fs)	SLC5A5 (G51fs)	Deletion (frameshift variant)	Thyroid dyshormonogenesis 1	GPathogenic
Select item 917859	NM_000453.3(SLC5A5):c.794A>G (p.Gln265Arg)	SLC5A5 (Q265R)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 1	GLikely pathogenic
Select item 892556	NM_000453.3(SLC5A5):c.649C>T (p.Arg217Cys)	SLC5A5 (R217C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 892555	NM_000453.3(SLC5A5):c.435C>T (p.Thr145=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 892554	NM_000453.3(SLC5A5):c.423+13G>A	SLC5A5	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 892553	NM_000453.3(SLC5A5):c.358-7C>A	SLC5A5	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 892552	NM_000453.3(SLC5A5):c.357+11G>A	SLC5A5	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 891744	NM_000453.3(SLC5A5):c.*1136G>A	SLC5A5	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 891743	NM_000453.3(SLC5A5):c.*1135C>T	SLC5A5	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 891742	NM_000453.3(SLC5A5):c.*1027A>G	SLC5A5	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 891741	NM_000453.3(SLC5A5):c.*987G>C	SLC5A5	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 1	GLikely benign
Select item 891740	NM_000453.3(SLC5A5):c.*862C>T	SLC5A5	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 891670	NM_000453.3(SLC5A5):c.1768-10T>A	SLC5A5	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 891669	NM_000453.3(SLC5A5):c.1768-11C>T	SLC5A5	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 891668	NM_000453.3(SLC5A5):c.1725C>T (p.Ala575=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 891667	NM_000453.3(SLC5A5):c.1651+7A>C	SLC5A5	Single nucleotide variant (intron variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 891666	NM_000453.3(SLC5A5):c.1643G>A (p.Cys548Tyr)	SLC5A5 (C548Y)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 891492	NM_000453.3(SLC5A5):c.*720G>A	SLC5A5	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 891491	NM_000453.3(SLC5A5):c.*645C>G	SLC5A5	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 1	GLikely benign
Select item 891490	NM_000453.3(SLC5A5):c.*551G>A	SLC5A5	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 1	GLikely benign
Select item 891419	NM_000453.3(SLC5A5):c.1421G>A (p.Arg474Lys)	SLC5A5 (R474K)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 891418	NM_000453.3(SLC5A5):c.1340C>G (p.Ala447Gly)	SLC5A5 (A447G)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 891361	NM_000453.3(SLC5A5):c.296T>C (p.Val99Ala)	SLC5A5 (V99A)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 891360	NM_000453.3(SLC5A5):c.19G>A (p.Gly7Arg)	SLC5A5 (G7R)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 891359	NM_000453.3(SLC5A5):c.17C>T (p.Thr6Ile)	SLC5A5 (T6I)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 891358	NM_000453.3(SLC5A5):c.-46G>A	SLC5A5	Single nucleotide variant (5 prime UTR variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 889933	NM_000453.3(SLC5A5):c.*410G>T	SLC5A5	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 889932	NM_000453.3(SLC5A5):c.*353C>T	SLC5A5	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 889881	NM_000453.3(SLC5A5):c.1192T>C (p.Cys398Arg)	SLC5A5 (C398R)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 889880	NM_000453.3(SLC5A5):c.1176C>T (p.Leu392=)	SLC5A5	Single nucleotide variant (synonymous variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 889879	NM_000453.3(SLC5A5):c.1084A>T (p.Met362Leu)	SLC5A5 (M362L)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 889878	NM_000453.3(SLC5A5):c.958G>A (p.Ala320Thr)	SLC5A5 (A320T)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 1 +1 more	GUncertain significance
Select item 889877	NM_000453.3(SLC5A5):c.915G>A (p.Val305=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 889313	NM_000453.3(SLC5A5):c.*1282C>A	SLC5A5	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 889312	NM_000453.3(SLC5A5):c.*1273A>G	SLC5A5	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 889311	NM_000453.3(SLC5A5):c.*1248C>T	SLC5A5	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 889253	NM_000453.3(SLC5A5):c.*228A>G	SLC5A5	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 889252	NM_000453.3(SLC5A5):c.*215C>T	SLC5A5	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 1	GLikely benign
Select item 889251	NM_000453.3(SLC5A5):c.*17G>A	SLC5A5	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 889197	NM_000453.3(SLC5A5):c.862G>A (p.Gly288Ser)	SLC5A5 (G288S)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 1 +2 more	GConflicting classifications of pathogenicity
Select item 889196	NM_000453.3(SLC5A5):c.839+13G>A	SLC5A5	Single nucleotide variant (intron variant)	Thyroid dyshormonogenesis 1 +1 more	GConflicting classifications of pathogenicity
Select item 889195	NM_000453.3(SLC5A5):c.686T>G (p.Ile229Ser)	SLC5A5 (I229S)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 889194	NM_000453.3(SLC5A5):c.672G>A (p.Gln224=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 889193	NM_000453.3(SLC5A5):c.657G>A (p.Val219=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 803544	NM_000453.3(SLC5A5):c.-54C>T	SLC5A5	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 777524	NM_000453.3(SLC5A5):c.861C>T (p.Val287=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 777523	NM_000453.3(SLC5A5):c.546C>T (p.Gly182=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 771215	NM_000453.3(SLC5A5):c.1058+8C>T	SLC5A5	Single nucleotide variant (intron variant)	Thyroid dyshormonogenesis 1 +1 more	GConflicting classifications of pathogenicity
Select item 737639	NM_000453.3(SLC5A5):c.1780C>T (p.Leu594Phe)	SLC5A5 (L594F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 328571	NM_000453.3(SLC5A5):c.*1217A>G	SLC5A5	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 328570	NM_000453.3(SLC5A5):c.*898G>A	SLC5A5	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 328569	NM_000453.3(SLC5A5):c.*897C>T	SLC5A5	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 328568	NM_000453.3(SLC5A5):c.*830C>T	SLC5A5	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 328567	NM_000453.3(SLC5A5):c.*826C>A	SLC5A5	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 328565	NM_000453.3(SLC5A5):c.*606C>T	SLC5A5	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 328564	NM_000453.3(SLC5A5):c.*575G>A	SLC5A5	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 328563	NM_000453.3(SLC5A5):c.*422C>G	SLC5A5	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 328562	NM_000453.3(SLC5A5):c.*344C>T	SLC5A5	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 328561	NM_000453.3(SLC5A5):c.*343T>C	SLC5A5	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 328560	NM_000453.3(SLC5A5):c.*339C>T	SLC5A5	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 328558	NM_000453.3(SLC5A5):c.*277T>C	SLC5A5	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 1 +1 more	GUncertain significance
Select item 328552	NM_000453.3(SLC5A5):c.*256T>C	SLC5A5	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 328551	NM_000453.3(SLC5A5):c.*239C>G	SLC5A5	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 328550	NM_000453.3(SLC5A5):c.*238C>A	SLC5A5	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 328548	NM_000453.3(SLC5A5):c.*226T>C	SLC5A5	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 1 +1 more	GBenign
Select item 328547	NM_000453.3(SLC5A5):c.*161C>T	SLC5A5	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 328546	NM_000453.3(SLC5A5):c.*136C>G	SLC5A5	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 328545	NM_000453.3(SLC5A5):c.*130A>G	SLC5A5	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 1 +1 more	GUncertain significance
Select item 328544	NM_000453.3(SLC5A5):c.*14C>T	SLC5A5	Single nucleotide variant (3 prime UTR variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 328543	NM_000453.3(SLC5A5):c.1632C>G (p.Ala544=)	SLC5A5	Single nucleotide variant (synonymous variant)	Thyroid dyshormonogenesis 1 +2 more	GConflicting classifications of pathogenicity
Select item 328542	NM_000453.3(SLC5A5):c.1626C>T (p.Cys542=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 328541	NM_000453.3(SLC5A5):c.1507G>A (p.Asp503Asn)	SLC5A5 (D503N)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 1 +1 more	GBenign/Likely benign
Select item 328540	NM_000453.3(SLC5A5):c.1506C>G (p.Asn502Lys)	SLC5A5 (N502K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 328539	NM_000453.3(SLC5A5):c.1314G>A (p.Pro438=)	SLC5A5	Single nucleotide variant (synonymous variant)	Thyroid dyshormonogenesis 1 +1 more	GConflicting classifications of pathogenicity
Select item 328538	NM_000453.3(SLC5A5):c.1224C>T (p.Leu408=)	SLC5A5	Single nucleotide variant (synonymous variant)	Thyroid dyshormonogenesis 1 +1 more	GConflicting classifications of pathogenicity
Select item 328537	NM_000453.3(SLC5A5):c.663G>A (p.Thr221=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 328536	NM_000453.3(SLC5A5):c.424-12C>A	SLC5A5	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 328535	NM_000453.3(SLC5A5):c.357+5C>T	SLC5A5	Single nucleotide variant (intron variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 328534	NM_000453.3(SLC5A5):c.330C>T (p.Tyr110=)	SLC5A5	Single nucleotide variant (synonymous variant)	Thyroid dyshormonogenesis 1 +1 more	GConflicting classifications of pathogenicity
Select item 328533	NM_000453.3(SLC5A5):c.252C>T (p.Gly84=)	SLC5A5	Single nucleotide variant (synonymous variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 328532	NM_000453.3(SLC5A5):c.-24C>A	SLC5A5	Single nucleotide variant (5 prime UTR variant)	Thyroid dyshormonogenesis 1 +1 more	GLikely benign
Select item 328531	NM_000453.3(SLC5A5):c.-36C>T	SLC5A5	Single nucleotide variant (5 prime UTR variant)	Thyroid dyshormonogenesis 1	GLikely benign
Select item 328530	NM_000453.3(SLC5A5):c.-53C>T	SLC5A5	Single nucleotide variant (5 prime UTR variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 328529	NM_000453.3(SLC5A5):c.-70C>T	SLC5A5	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 328528	NM_000453.3(SLC5A5):c.-107C>A	SLC5A5	Single nucleotide variant (5 prime UTR variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 328527	NM_000453.3(SLC5A5):c.-184C>T	SLC5A5	Single nucleotide variant (5 prime UTR variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 256200	NM_000453.3(SLC5A5):c.839+11C>T	SLC5A5	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 256199	NM_000453.3(SLC5A5):c.1652-9G>A	SLC5A5	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 256197	NM_000453.3(SLC5A5):c.1330-15C>T	SLC5A5	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 256195	NM_000453.3(SLC5A5):c.1326A>C (p.Thr442=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 7671	NG_012930.1:g.7540_13728delins431	SLC5A5	Indel	Thyroid dyshormonogenesis 1	GPathogenic
Select item 7670	NM_000453.3(SLC5A5):c.1183G>A (p.Gly395Arg)	SLC5A5 (G395R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 7669	NM_000453.3(SLC5A5):c.1628G>A (p.Gly543Glu)	SLC5A5 (G543E)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 1	GPathogenic
Select item 7668	NM_000453.3(SLC5A5):c.277G>C (p.Gly93Arg)	SLC5A5 (G93R)	Single nucleotide variant (missense variant)	Thyroid dyshormonogenesis 1	GPathogenic
Select item 7667	NM_000453.3(SLC5A5):c.1593C>G (p.Tyr531Ter)	SLC5A5 (Y531*)	Single nucleotide variant (nonsense)	SLC5A5-related disorder +2 more	GPathogenic
Select item 7666	NM_000453.3(SLC5A5):c.799C>G (p.Gln267Glu)	SLC5A5 (Q267E)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic

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