ClinVar for Gene (Select 3340) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3383289	NM_001543.5(NDST1):c.530T>G (p.Leu177Arg)	NDST1 (L177R)	Single nucleotide variant (missense variant)	Cleft lip/palate	GUncertain significance
Select item 3371302	NM_001543.5(NDST1):c.950A>T (p.Asp317Val)	NDST1 (D317V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3357385	NM_001543.5(NDST1):c.744C>T (p.Ser248=)	NDST1	Single nucleotide variant (synonymous variant)	NDST1-related disorder	GLikely benign
Select item 3299003	NM_001543.5(NDST1):c.640G>A (p.Glu214Lys)	NDST1 (E214K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299002	NM_001543.5(NDST1):c.1289C>G (p.Ala430Gly)	NDST1 (A430G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299001	NM_001543.5(NDST1):c.2209G>A (p.Gly737Ser)	NDST1 (G737S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3299000	NM_001543.5(NDST1):c.248C>A (p.Pro83Gln)	NDST1 (P83Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298999	NM_001543.5(NDST1):c.2125C>G (p.Arg709Gly)	NDST1 (R709G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298997	NM_001543.5(NDST1):c.1253A>G (p.Glu418Gly)	NDST1 (E418G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186544	NM_001543.5(NDST1):c.907G>A (p.Gly303Arg)	NDST1 (G303R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186536	NM_001543.5(NDST1):c.335G>A (p.Arg112His)	NDST1 (R112H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186513	NM_001543.5(NDST1):c.2557C>G (p.Arg853Gly)	NDST1 (R796G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186507	NM_001543.5(NDST1):c.2504G>A (p.Arg835Gln)	NDST1 (R835Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186504	NM_001543.5(NDST1):c.248C>T (p.Pro83Leu)	NDST1 (P83L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186495	NM_001543.5(NDST1):c.2336A>G (p.Lys779Arg)	NDST1 (K779R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186478	NM_001543.5(NDST1):c.2155G>A (p.Ala719Thr)	NDST1 (A719T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3186471	NM_001543.5(NDST1):c.2030G>A (p.Ser677Asn)	NDST1 (S677N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186468	NM_001543.5(NDST1):c.1946A>C (p.His649Pro)	NDST1 (H649P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186463	NM_001543.5(NDST1):c.1919T>C (p.Phe640Ser)	NDST1 (F640S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186446	NM_001543.5(NDST1):c.1552G>A (p.Val518Met)	NDST1 (V518M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186444	NM_001543.5(NDST1):c.1531G>A (p.Gly511Arg)	NDST1 (G511R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186436	NM_001543.5(NDST1):c.1427A>C (p.Asn476Thr)	NDST1 (N476T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186423	NM_001543.5(NDST1):c.1353G>T (p.Trp451Cys)	NDST1 (W451C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067533	NM_001543.5(NDST1):c.1680A>G (p.Thr560=)	NDST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3064174	NM_001543.5(NDST1):c.985C>T (p.Arg329Cys)	NDST1 (R329C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 46	GUncertain significance
Select item 3052948	NM_001543.5(NDST1):c.1306G>A (p.Val436Met)	NDST1 (V436M)	Single nucleotide variant (missense variant)	NDST1-related disorder	GUncertain significance
Select item 3033111	NM_001543.5(NDST1):c.2395A>G (p.Thr799Ala)	NDST1 (T742A +1 more)	Single nucleotide variant (missense variant)	NDST1-related disorder	GUncertain significance
Select item 3031929	NM_001543.5(NDST1):c.-3A>C	NDST1	Single nucleotide variant (5 prime UTR variant)	NDST1-related disorder	GLikely benign
Select item 3030312	NM_001543.5(NDST1):c.633A>G (p.Arg211=)	NDST1	Single nucleotide variant (synonymous variant)	NDST1-related disorder	GLikely benign
Select item 2990410	NM_001543.5(NDST1):c.2287C>T (p.Arg763Cys)	NDST1 (R763C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2985520	NM_001543.5(NDST1):c.1327C>T (p.Leu443=)	NDST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975520	NM_001543.5(NDST1):c.2345G>A (p.Arg782His)	NDST1 (R782H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970942	NM_001543.5(NDST1):c.1323G>A (p.Val441=)	NDST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961003	NM_001543.5(NDST1):c.1097-14del	NDST1	Deletion (intron variant)	not provided	GLikely benign
Select item 2954857	NM_001543.5(NDST1):c.1438-14C>T	NDST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919306	NM_001543.5(NDST1):c.2206G>A (p.Ala736Thr)	NDST1 (A736T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2918558	NM_001543.5(NDST1):c.2484T>C (p.Cys828=)	NDST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2918129	NM_001543.5(NDST1):c.1438-10C>G	NDST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2892075	NM_001543.5(NDST1):c.281C>T (p.Ser94Leu)	NDST1 (S94L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2888435	NM_001543.5(NDST1):c.213G>A (p.Lys71=)	NDST1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2808134	NM_001543.5(NDST1):c.2317-17C>G	NDST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2730407	NM_001543.5(NDST1):c.2090C>T (p.Ala697Val)	NDST1 (A697V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2722316	NM_001543.5(NDST1):c.1488C>T (p.Asn496=)	NDST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2689547	NM_001543.5(NDST1):c.2272G>A (p.Ala758Thr)	NDST1 (A758T)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 46	GUncertain significance
Select item 2689546	NM_001543.5(NDST1):c.2063G>A (p.Arg688Gln)	NDST1 (R688Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 46	GUncertain significance
Select item 2681431	NM_001543.5(NDST1):c.1170G>A (p.Met390Ile)	NDST1 (M390I)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2662702	NM_001543.5(NDST1):c.347C>T (p.Ala116Val)	NDST1 (A116V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2655937	NM_001543.5(NDST1):c.2634C>T (p.Leu878=)	NDST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655936	NM_001543.5(NDST1):c.1632G>A (p.Lys544=)	NDST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655935	NM_001543.5(NDST1):c.1500C>T (p.Gly500=)	NDST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655934	NM_001543.5(NDST1):c.1383C>T (p.Tyr461=)	NDST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655933	NM_001543.5(NDST1):c.486C>T (p.Tyr162=)	NDST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2589855	NM_001543.5(NDST1):c.1402C>T (p.Arg468Cys)	NDST1 (R468C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560242	NM_001543.5(NDST1):c.142T>C (p.Ser48Pro)	NDST1 (S48P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553227	NM_001543.5(NDST1):c.766G>A (p.Ala256Thr)	NDST1 (A256T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2527460	NM_001543.5(NDST1):c.2573A>T (p.Glu858Val)	NDST1 (E858V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507152	NM_001543.5(NDST1):c.1850C>T (p.Thr617Ile)	NDST1 (T617I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2476795	NM_001543.5(NDST1):c.2624G>A (p.Arg875Gln)	NDST1 (R875Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462482	NM_001543.5(NDST1):c.179C>T (p.Pro60Leu)	NDST1 (P60L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459174	NM_001543.5(NDST1):c.47C>T (p.Pro16Leu)	NDST1 (P16L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2430776	NM_001543.5(NDST1):c.1951T>C (p.Tyr651His)	NDST1 (Y651H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2408522	NM_001543.5(NDST1):c.2623C>T (p.Arg875Ter)	NDST1 (R875* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal recessive 46 +1 more	GUncertain significance
Select item 2369014	NM_001543.5(NDST1):c.1523T>A (p.Ile508Asn)	NDST1 (I508N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367542	NM_001543.5(NDST1):c.2207C>T (p.Ala736Val)	NDST1 (A736V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2367541	NM_001543.5(NDST1):c.1114G>T (p.Ala372Ser)	NDST1 (A372S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334824	NM_001543.5(NDST1):c.383A>G (p.Lys128Arg)	NDST1 (K128R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322593	NM_001543.5(NDST1):c.1768C>T (p.Arg590Cys)	NDST1 (R590C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314515	NM_001543.5(NDST1):c.395G>A (p.Arg132His)	NDST1 (R132H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311476	NM_001543.5(NDST1):c.27G>C (p.Arg9Ser)	NDST1 (R9S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302326	NM_001543.5(NDST1):c.2411A>T (p.Tyr804Phe)	NDST1 (Y747F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297943	NM_001543.5(NDST1):c.2534G>A (p.Arg845Gln)	NDST1 (R788Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282275	NM_001543.5(NDST1):c.769G>A (p.Gly257Ser)	NDST1 (G257S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279315	NM_001543.5(NDST1):c.2285A>G (p.Glu762Gly)	NDST1 (E762G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2279314	NM_001543.5(NDST1):c.2283C>G (p.Ile761Met)	NDST1 (I761M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2273723	NM_001543.5(NDST1):c.2332G>A (p.Gly778Ser)	NDST1 (G721S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271301	NM_001543.5(NDST1):c.1252-4C>G	NDST1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 2266463	NM_001543.5(NDST1):c.1438-6C>T	NDST1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2257595	NM_001543.5(NDST1):c.2057C>T (p.Ala686Val)	NDST1 (A686V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225643	NM_001543.5(NDST1):c.1361G>A (p.Arg454His)	NDST1 (R454H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211645	NM_001543.5(NDST1):c.790G>A (p.Ala264Thr)	NDST1 (A264T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2196013	NM_001543.5(NDST1):c.1062C>T (p.Phe354=)	NDST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2189019	NM_001543.5(NDST1):c.513+4C>A	NDST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2186314	NM_001543.5(NDST1):c.1623C>T (p.Tyr541=)	NDST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2173890	NM_001543.5(NDST1):c.2371A>G (p.Met791Val)	NDST1 (M734V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2166526	NM_001543.5(NDST1):c.197G>A (p.Arg66His)	NDST1 (R66H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2136857	NM_001543.5(NDST1):c.2426C>T (p.Ala809Val)	NDST1 (A809V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2135579	NM_001543.5(NDST1):c.1701G>A (p.Ala567=)	NDST1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2128610	NM_001543.5(NDST1):c.1666C>G (p.Leu556Val)	NDST1 (L556V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2123913	NM_001543.5(NDST1):c.765C>A (p.Asp255Glu)	NDST1 (D255E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2112501	NM_001543.5(NDST1):c.2010C>T (p.Ser670=)	NDST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2079141	NM_001543.5(NDST1):c.348G>A (p.Ala116=)	NDST1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2074193	NM_001543.5(NDST1):c.2225C>T (p.Ser742Leu)	NDST1 (S742L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2068978	NM_001543.5(NDST1):c.1008+4T>A	NDST1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1982890	NM_001543.5(NDST1):c.1614G>A (p.Leu538=)	NDST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1982788	NM_001543.5(NDST1):c.914G>A (p.Arg305His)	NDST1 (R305H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1968302	NM_001543.5(NDST1):c.2062C>T (p.Arg688Trp)	NDST1 (R688W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1959281	NM_001543.5(NDST1):c.684C>T (p.Phe228=)	NDST1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1957419	NM_001543.5(NDST1):c.1750-4T>G	NDST1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1942101	NM_001543.5(NDST1):c.967G>A (p.Val323Met)	NDST1 (V323M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1938156	NM_001543.5(NDST1):c.2427-13C>T	NDST1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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