11040[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 549645	NC_000019.10:g.17871184_17932288dup	LOC130063962, LOC130063963 +2 more	Duplication	Primary amenorrhea	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 328528	NM_000453.3(SLC5A5):c.-107C>A	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 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 328530	NM_000453.3(SLC5A5):c.-53C>T	SLC5A5	Single nucleotide variant (5 prime UTR 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 328531	NM_000453.3(SLC5A5):c.-36C>T	SLC5A5	Single nucleotide variant (5 prime UTR variant)	Thyroid dyshormonogenesis 1	GLikely benign
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 2701969	NM_000453.3(SLC5A5):c.9C>G (p.Ala3=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2744998	NM_000453.3(SLC5A5):c.22dup (p.Glu8fs)	SLC5A5 (E8fs)	Duplication (frameshift variant)	not provided	GPathogenic
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 2956599	NM_000453.3(SLC5A5):c.21G>A (p.Gly7=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969022	NM_000453.3(SLC5A5):c.25C>A (p.Arg9=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971158	NM_000453.3(SLC5A5):c.33C>T (p.Thr11=)	SLC5A5	Single nucleotide variant (synonymous 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 3339135	NM_000453.3(SLC5A5):c.52G>A (p.Gly18Arg)	SLC5A5 (G18R)	Single nucleotide variant (missense variant)	not specified	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 2838369	NM_000453.3(SLC5A5):c.72C>T (p.Leu24=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 747943	NM_000453.3(SLC5A5):c.73C>T (p.Leu25=)	SLC5A5	Single nucleotide variant (synonymous 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 2991892	NM_000453.3(SLC5A5):c.90C>T (p.Ile30=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977939	NM_000453.3(SLC5A5):c.102C>T (p.Val34=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2334784	NM_000453.3(SLC5A5):c.103G>A (p.Gly35Arg)	SLC5A5 (G35R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2965072	NM_000453.3(SLC5A5):c.117C>G (p.Gly39=)	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 2832748	NM_000453.3(SLC5A5):c.147C>T (p.Thr49=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 983276	NM_000453.3(SLC5A5):c.152del (p.Gly51fs)	SLC5A5 (G51fs)	Deletion (frameshift variant)	Thyroid dyshormonogenesis 1	GPathogenic
Select item 2957294	NM_000453.3(SLC5A5):c.150G>A (p.Gly50=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2837769	NM_000453.3(SLC5A5):c.153C>T (p.Gly51=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886692	NM_000453.3(SLC5A5):c.158G>A (p.Arg53His)	SLC5A5 (R53H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2747549	NM_000453.3(SLC5A5):c.162G>A (p.Leu54=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2797661	NM_000453.3(SLC5A5):c.166del (p.Ala56fs)	SLC5A5 (A56fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 738746	NM_000453.3(SLC5A5):c.168C>T (p.Ala56=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2633371	NM_000453.3(SLC5A5):c.176T>A (p.Val59Glu)	SLC5A5 (V59E)	Single nucleotide variant (missense variant)	SLC5A5-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 2802778	NM_000453.3(SLC5A5):c.181C>T (p.Leu61=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793417	NM_000453.3(SLC5A5):c.195C>T (p.Ala65=)	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 742293	NM_000453.3(SLC5A5):c.222G>A (p.Leu74=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2880281	NM_000453.3(SLC5A5):c.228G>A (p.Val76=)	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 3002461	NM_000453.3(SLC5A5):c.237G>A (p.Glu79=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2879493	NM_000453.3(SLC5A5):c.255C>T (p.Leu85=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776686	NM_000453.3(SLC5A5):c.261C>T (p.Phe87=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2728803	NM_000453.3(SLC5A5):c.264C>A (p.Leu88=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976212	NM_000453.3(SLC5A5):c.273C>T (p.Cys91=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2693903	NM_000453.3(SLC5A5):c.280C>T (p.Gln94Ter)	SLC5A5 (Q94*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2700296	NM_000453.3(SLC5A5):c.282G>A (p.Gln94=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2790442	NM_000453.3(SLC5A5):c.303C>A (p.Thr101=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2985792	NM_000453.3(SLC5A5):c.321C>G (p.Pro107=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 764871	NM_000453.3(SLC5A5):c.333C>T (p.Arg111=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872950	NM_000453.3(SLC5A5):c.336G>A (p.Leu112=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2856968	NM_000453.3(SLC5A5):c.336G>C (p.Leu112=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2865967	NM_000453.3(SLC5A5):c.339C>A (p.Gly113=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 328535	NM_000453.3(SLC5A5):c.357+5C>T	SLC5A5	Single nucleotide variant (intron variant)	Thyroid dyshormonogenesis 1	GUncertain significance
Select item 2700293	NM_000453.3(SLC5A5):c.357+7G>A	SLC5A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2994557	NM_000453.3(SLC5A5):c.357+14G>A	SLC5A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961470	NM_000453.3(SLC5A5):c.357+17C>T	SLC5A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020139	NM_000453.3(SLC5A5):c.357+18G>T	SLC5A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260975	NM_000453.3(SLC5A5):c.357+76C>T	SLC5A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2816927	NM_000453.3(SLC5A5):c.358-19C>T	SLC5A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2823186	NM_000453.3(SLC5A5):c.358-17C>G	SLC5A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2845303	NM_000453.3(SLC5A5):c.358-15A>G	SLC5A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2877208	NM_000453.3(SLC5A5):c.358-2A>G	SLC5A5	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2736846	NM_000453.3(SLC5A5):c.371G>A (p.Arg124His)	SLC5A5 (R124H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2804286	NM_000453.3(SLC5A5):c.372C>A (p.Arg124=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2738456	NM_000453.3(SLC5A5):c.375C>T (p.Phe125=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2312782	NM_000453.3(SLC5A5):c.382G>T (p.Ala128Ser)	SLC5A5 (A128S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2808189	NM_000453.3(SLC5A5):c.387G>C (p.Val129=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960695	NM_000453.3(SLC5A5):c.414T>C (p.Ile138=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2264113	NM_000453.3(SLC5A5):c.422C>G (p.Thr141Arg)	SLC5A5 (T141R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2843545	NM_000453.3(SLC5A5):c.423+1G>A	SLC5A5	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2745046	NM_000453.3(SLC5A5):c.423+7G>T	SLC5A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957509	NM_000453.3(SLC5A5):c.423+8G>A	SLC5A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2826921	NM_000453.3(SLC5A5):c.423+8G>C	SLC5A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2817580	NM_000453.3(SLC5A5):c.423+9_423+10del	SLC5A5	Deletion (intron variant)	not provided	GLikely benign
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 2779191	NM_000453.3(SLC5A5):c.424-20G>A	SLC5A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871125	NM_000453.3(SLC5A5):c.424-18C>G	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 2975145	NM_000453.3(SLC5A5):c.424-13A>G	SLC5A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 2797919	NM_000453.3(SLC5A5):c.441C>T (p.Ile147=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884395	NM_000453.3(SLC5A5):c.451dup (p.Ala151fs)	SLC5A5 (A151fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2766308	NM_000453.3(SLC5A5):c.450C>T (p.Tyr150=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 755745	NM_000453.3(SLC5A5):c.466C>T (p.Leu156=)	SLC5A5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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