ClinVar for Gene (Select 23213) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 340

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3356685	NM_001128205.2(SULF1):c.1418T>G (p.Ile473Ser)	SULF1 (I273S +4 more)	Single nucleotide variant (missense variant +2 more)	SULF1-related disorder	GUncertain significance
Select item 3323581	NM_001128205.2(SULF1):c.1790G>A (p.Arg597Lys)	SULF1 (R397K +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3323580	NM_001128205.2(SULF1):c.651G>A (p.Met217Ile)	SULF1 (M217I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3323579	NM_001128205.2(SULF1):c.797C>A (p.Pro266Gln)	SULF1 (P266Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3323578	NM_001128205.2(SULF1):c.1537G>T (p.Ala513Ser)	SULF1 (A451S +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3323577	NM_001128205.2(SULF1):c.553G>C (p.Asp185His)	SULF1 (D123H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3172008	NM_001128205.2(SULF1):c.814A>G (p.Met272Val)	SULF1 (M210V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3172007	NM_001128205.2(SULF1):c.733A>C (p.Ile245Leu)	SULF1 (I183L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3172006	NM_001128205.2(SULF1):c.524G>A (p.Arg175His)	SULF1 (R175H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3172005	NM_001128205.2(SULF1):c.397A>G (p.Thr133Ala)	SULF1 (T133A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3172004	NM_001128205.2(SULF1):c.280A>T (p.Met94Leu)	SULF1 (M94L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3172003	NM_001128205.2(SULF1):c.2089A>G (p.Ser697Gly)	SULF1 (S100G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3063003	GRCh37/hg19 8q13.2-13.3(chr8:69889747-72597645)x1	EYA1, LACTB2 +6 more	Copy number loss	not specified	GPathogenic
Select item 3043606	NM_001128205.2(SULF1):c.2448G>A (p.Thr816=)	SULF1 (G769S)	Single nucleotide variant (synonymous variant +2 more)	SULF1-related disorder	GLikely benign
Select item 3021336	NM_001128205.2(SULF1):c.125G>A (p.Arg42Gln)	SULF1 (R42Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3016385	NM_001128205.2(SULF1):c.1594+9C>T	SULF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014803	NM_001128205.2(SULF1):c.1820G>A (p.Gly607Asp)	SULF1 (G10D +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3011876	NM_001128205.2(SULF1):c.1327G>T (p.Glu443Ter)	SULF1 (E400* +4 more)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 3009732	NM_001128205.2(SULF1):c.1942A>G (p.Lys648Glu)	SULF1 (K448E +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3007634	NM_001128205.2(SULF1):c.2547T>C (p.Asp849=)	SULF1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3000235	NM_001128205.2(SULF1):c.1594+7C>T	SULF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000023	NM_001128205.2(SULF1):c.592G>A (p.Glu198Lys)	SULF1 (E136K +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2999620	NM_001128205.2(SULF1):c.1529G>C (p.Gly510Ala)	SULF1 (G310A +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2985816	NM_001128205.2(SULF1):c.1480G>A (p.Ala494Thr)	SULF1 (A451T +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2981942	NM_001128205.2(SULF1):c.1947+8A>G	SULF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979263	NM_001128205.2(SULF1):c.1284T>C (p.Asn428=)	SULF1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2979262	NM_001128205.2(SULF1):c.1594+10G>A	SULF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975534	NM_001128205.2(SULF1):c.173-11G>A	SULF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974480	NM_001128205.2(SULF1):c.1377+10G>A	SULF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973933	NM_001128205.2(SULF1):c.470G>A (p.Arg157Gln)	SULF1 (R157Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2973739	NM_001128205.2(SULF1):c.1374G>A (p.Gly458=)	SULF1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2973606	NM_001128205.2(SULF1):c.1179G>A (p.Lys393=)	SULF1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2972661	NM_001128205.2(SULF1):c.554A>C (p.Asp185Ala)	SULF1 (I10L +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2971643	NM_001128205.2(SULF1):c.2562T>C (p.Asp854=)	SULF1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2965702	NM_001128205.2(SULF1):c.1370C>T (p.Pro457Leu)	SULF1 (P457L +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2964252	NM_001128205.2(SULF1):c.2478C>T (p.His826=)	SULF1 (R779C)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2963404	NM_001128205.2(SULF1):c.2428-14G>A	SULF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960968	NM_001128205.2(SULF1):c.614T>C (p.Met205Thr)	SULF1 (M143T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2960171	NM_001128205.2(SULF1):c.2161C>T (p.Arg721Cys)	SULF1 (R124C +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2960089	NM_001128205.2(SULF1):c.1418T>A (p.Ile473Asn)	SULF1 (I473N +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2959255	NM_001128205.2(SULF1):c.909G>A (p.Thr303=)	SULF1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2958901	NM_001128205.2(SULF1):c.2170AAG[1] (p.Lys725del)	SULF1 (K525del +5 more)	Microsatellite (inframe_deletion +2 more)	not provided	GUncertain significance
Select item 2956655	NM_001128205.2(SULF1):c.1815C>T (p.Ala605=)	SULF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2955904	NM_001128205.2(SULF1):c.1190+14C>T	SULF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2911580	NM_001128205.2(SULF1):c.1132C>T (p.Pro378Ser)	SULF1 (P316S +2 more)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GUncertain significance
Select item 2908773	NM_001128205.2(SULF1):c.1061+5G>A	SULF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2905388	NM_001128205.2(SULF1):c.1318C>T (p.Arg440Trp)	SULF1 (R240W +4 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2899653	NM_001128205.2(SULF1):c.1484G>A (p.Arg495His)	SULF1 (R452H +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2898564	NM_001128205.2(SULF1):c.1885G>C (p.Glu629Gln)	SULF1 (E429Q +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2897081	NM_001128205.2(SULF1):c.1373G>A (p.Gly458Glu)	SULF1 (G258E +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2896068	NM_001128205.2(SULF1):c.462T>C (p.Pro154=)	SULF1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2892640	NM_001128205.2(SULF1):c.1486G>A (p.Gly496Ser)	SULF1 (G296S +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2887048	NM_001128205.2(SULF1):c.1642G>A (p.Val548Ile)	SULF1 (V348I +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2885840	NM_001128205.2(SULF1):c.1839A>G (p.Arg613=)	SULF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2881156	NM_001128205.2(SULF1):c.2551+15A>C	SULF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879712	NM_001128205.2(SULF1):c.412+19A>T	SULF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2878706	NM_001128205.2(SULF1):c.2108+9C>A	SULF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876342	NM_001128205.2(SULF1):c.371G>A (p.Arg124Gln)	SULF1 (R124Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2876068	NM_001128205.2(SULF1):c.1190+3G>A	SULF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2874149	NM_001128205.2(SULF1):c.1533C>T (p.Tyr511=)	SULF1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2872714	NM_001128205.2(SULF1):c.223del (p.Ala75fs)	SULF1 (A75fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 2859972	NM_001128205.2(SULF1):c.437A>G (p.Glu146Gly)	SULF1 (E84G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2848921	NM_001128205.2(SULF1):c.1506A>G (p.Lys502=)	SULF1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2847902	NM_001128205.2(SULF1):c.564+5T>C	SULF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2846081	NM_001128205.2(SULF1):c.2338C>T (p.Arg780Cys)	SULF1 (R580C +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2842707	NM_001128205.2(SULF1):c.1805G>A (p.Ser602Asn)	SULF1 (S402N +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2840315	NM_001128205.2(SULF1):c.2551+9A>G	SULF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2836538	NM_001128205.2(SULF1):c.643G>C (p.Val215Leu)	SULF1 (V153L +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2822511	NM_001128205.2(SULF1):c.763A>G (p.Met255Val)	SULF1 (M193V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2810719	NM_001128205.2(SULF1):c.2427+3A>G	SULF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2810398	NM_001128205.2(SULF1):c.2566G>A (p.Gly856Arg)	SULF1 (G813R +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2805295	NM_001128205.2(SULF1):c.2586-1G>A	SULF1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2799797	NM_001128205.2(SULF1):c.930C>T (p.Tyr310=)	SULF1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2790002	NM_001128205.2(SULF1):c.1398T>C (p.Asp466=)	SULF1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2766536	NM_001128205.2(SULF1):c.2151G>A (p.Lys717=)	SULF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2754688	NM_001128205.2(SULF1):c.885+17A>T	SULF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2752012	NM_001128205.2(SULF1):c.1247+20G>T	SULF1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2744724	NM_001128205.2(SULF1):c.1595-11_1595-7del	SULF1	Deletion (intron variant)	not provided	GUncertain significance
Select item 2730727	NM_001128205.2(SULF1):c.1173A>T (p.Pro391=)	SULF1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2722514	NM_001128205.2(SULF1):c.1212C>A (p.Ala404=)	SULF1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2721184	NM_001128205.2(SULF1):c.1125C>T (p.Asp375=)	SULF1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2720763	NM_001128205.2(SULF1):c.219G>A (p.Gly73=)	SULF1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2719635	NM_001128205.2(SULF1):c.1191-18T>C	SULF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2715764	NM_001128205.2(SULF1):c.1459C>G (p.Gln487Glu)	SULF1 (Q287E +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2715295	NM_001128205.2(SULF1):c.1143C>T (p.Asp381=)	SULF1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2714765	NM_001128205.2(SULF1):c.223G>A (p.Ala75Thr)	SULF1 (A75T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2714575	NM_001128205.2(SULF1):c.1905G>A (p.Ser635=)	SULF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2706953	NM_001128205.2(SULF1):c.2012A>C (p.Lys671Thr)	SULF1 (K609T +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2703309	NM_001128205.2(SULF1):c.1378-17C>A	SULF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2693080	NM_001128205.2(SULF1):c.335G>A (p.Cys112Tyr)	SULF1 (C50Y +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2681571	NM_001128205.2(SULF1):c.1689A>C (p.Glu563Asp)	SULF1 (E363D +4 more)	Single nucleotide variant (missense variant +2 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2681570	NM_001128205.2(SULF1):c.668C>T (p.Ala223Val)	SULF1 (A161V +2 more)	Single nucleotide variant (missense variant +2 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2658645	NM_001128205.2(SULF1):c.1609T>C (p.Phe537Leu)	SULF1 (F337L +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2605310	NM_001128205.2(SULF1):c.1861C>G (p.Leu621Val)	SULF1 (L559V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544938	NM_001128205.2(SULF1):c.151G>A (p.Asp51Asn)	SULF1 (D51N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2530191	NM_001128205.2(SULF1):c.2165G>A (p.Arg722Lys)	SULF1 (R125K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510536	NM_001128205.2(SULF1):c.1259G>A (p.Arg420His)	SULF1 (R220H +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2509363	NM_001128205.2(SULF1):c.1016G>A (p.Arg339His)	SULF1 (R277H +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance

<< First< Prev

Page of 4