ClinVar for Gene (Select 7058) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3352594	NM_003247.5(THBS2):c.1780-4G>A	THBS2, THBS2-AS1	Single nucleotide variant (intron variant)	THBS2-related disorder	GBenign
Select item 3325871	NM_003247.5(THBS2):c.1330T>G (p.Ser444Ala)	THBS2, THBS2-AS1 (S367A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325870	NM_003247.5(THBS2):c.2473G>A (p.Asp825Asn)	THBS2, THBS2-AS1 (D767N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325869	NM_003247.5(THBS2):c.3187G>A (p.Val1063Met)	THBS2, THBS2-AS1 (V1063M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325868	NM_003247.5(THBS2):c.151G>A (p.Gly51Ser)	THBS2 (G51S)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3325867	NM_003247.5(THBS2):c.853G>A (p.Val285Ile)	THBS2 (V208I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325866	NM_003247.5(THBS2):c.3046G>A (p.Val1016Ile)	THBS2, THBS2-AS1 (V939I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325865	NM_003247.5(THBS2):c.521C>A (p.Ala174Asp)	THBS2 (A174D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325864	NM_003247.5(THBS2):c.1146G>T (p.Glu382Asp)	THBS2, THBS2-AS1 (E305D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3325862	NM_003247.5(THBS2):c.2406C>G (p.Asp802Glu)	THBS2, THBS2-AS1 (D802E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176976	NM_003247.5(THBS2):c.950T>C (p.Met317Thr)	LOC126859909, THBS2 (M240T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176975	NM_003247.5(THBS2):c.898G>A (p.Asp300Asn)	LOC126859909, THBS2 (D223N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3176974	NM_003247.5(THBS2):c.889G>T (p.Val297Leu)	THBS2 (V220L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176973	NM_003247.5(THBS2):c.790G>A (p.Glu264Lys)	THBS2 (E187K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176972	NM_003247.5(THBS2):c.640G>C (p.Glu214Gln)	THBS2 (E137Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176971	NM_003247.5(THBS2):c.423C>G (p.Asp141Glu)	THBS2 (D141E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176969	NM_003247.5(THBS2):c.418G>A (p.Glu140Lys)	THBS2 (E63K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176968	NM_003247.5(THBS2):c.3164C>T (p.Thr1055Met)	THBS2, THBS2-AS1 (T1055M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176967	NM_003247.5(THBS2):c.2713G>A (p.Val905Ile)	LOC126859908, THBS2 +1 more (V828I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3176966	NM_003247.5(THBS2):c.2635A>C (p.Ile879Leu)	THBS2, THBS2-AS1 (I879L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176964	NM_003247.5(THBS2):c.2029A>G (p.Lys677Glu)	THBS2-AS1, THBS2 (K619E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176963	NM_003247.5(THBS2):c.1897G>A (p.Gly633Arg)	THBS2, THBS2-AS1 (G575R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176961	NM_003247.5(THBS2):c.1466C>A (p.Ala489Asp)	THBS2, THBS2-AS1 (A412D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176960	NM_003247.5(THBS2):c.1441C>T (p.Arg481Trp)	THBS2, THBS2-AS1 (R404W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176959	NM_003247.5(THBS2):c.1369A>G (p.Asn457Asp)	THBS2, THBS2-AS1 (N380D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176958	NM_003247.5(THBS2):c.1267C>T (p.Arg423Trp)	THBS2, THBS2-AS1 (R423W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176957	NM_003247.5(THBS2):c.1184T>C (p.Val395Ala)	THBS2, THBS2-AS1 (V318A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176956	NM_003247.5(THBS2):c.1105G>A (p.Glu369Lys)	THBS2 (E292K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176955	NM_003247.5(THBS2):c.1102G>A (p.Gly368Ser)	THBS2 (G291S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
Select item 3062910	GRCh37/hg19 6q26-27(chr6:162079329-170919482)x1	AFDN, C6orf118 +33 more	Copy number loss	not specified	GPathogenic
Select item 3062024	NM_003247.5(THBS2):c.2686T>C (p.Cys896Arg)	LOC126859908, THBS2 +1 more (C819R +2 more)	Single nucleotide variant (missense variant +1 more)	Ehlers-Danlos syndrome	GPathogenic
Select item 3060730	NM_003247.5(THBS2):c.3360T>C (p.Thr1120=)	THBS2, THBS2-AS1	Single nucleotide variant (synonymous variant +1 more)	THBS2-related disorder	GBenign
Select item 3060578	NM_003247.5(THBS2):c.354C>T (p.Asn118=)	THBS2	Single nucleotide variant (synonymous variant +1 more)	THBS2-related disorder	GBenign
Select item 3059911	NM_003247.5(THBS2):c.2007C>T (p.Gly669=)	THBS2, THBS2-AS1	Single nucleotide variant (synonymous variant +1 more)	THBS2-related disorder	GBenign
Select item 3059518	NM_003247.5(THBS2):c.1173C>T (p.Thr391=)	THBS2, THBS2-AS1	Single nucleotide variant (synonymous variant +1 more)	THBS2-related disorder	GBenign
Select item 3059455	NM_003247.5(THBS2):c.2152-9C>T	THBS2, THBS2-AS1	Single nucleotide variant (intron variant)	THBS2-related disorder	GBenign
Select item 3059272	NM_003247.5(THBS2):c.3075C>T (p.Ala1025=)	THBS2, THBS2-AS1	Single nucleotide variant (synonymous variant +1 more)	THBS2-related disorder	GBenign
Select item 3058979	NM_003247.5(THBS2):c.1257C>G (p.Ser419=)	THBS2, THBS2-AS1	Single nucleotide variant (synonymous variant +1 more)	THBS2-related disorder	GBenign
Select item 3058815	NM_003247.5(THBS2):c.3183C>T (p.Ser1061=)	THBS2, THBS2-AS1	Single nucleotide variant (synonymous variant +1 more)	THBS2-related disorder	GLikely benign
Select item 3056459	NM_003247.5(THBS2):c.777G>A (p.Ser259=)	THBS2	Single nucleotide variant (synonymous variant +1 more)	THBS2-related disorder	GBenign
Select item 3056067	NM_003247.5(THBS2):c.1584C>T (p.Tyr528=)	THBS2, THBS2-AS1	Single nucleotide variant (synonymous variant +2 more)	THBS2-related disorder	GBenign
Select item 3048185	NM_003247.5(THBS2):c.459C>T (p.Thr153=)	THBS2	Single nucleotide variant (synonymous variant +1 more)	THBS2-related disorder	GLikely benign
Select item 3046149	NM_003247.5(THBS2):c.2488G>A (p.Gly830Ser)	THBS2, THBS2-AS1 (G753S +2 more)	Single nucleotide variant (missense variant +1 more)	THBS2-related disorder	GBenign
Select item 3044894	NM_003247.5(THBS2):c.3074C>T (p.Ala1025Val)	THBS2, THBS2-AS1 (A1025V +2 more)	Single nucleotide variant (missense variant +1 more)	THBS2-related disorder	GBenign
Select item 3043551	NM_003247.5(THBS2):c.2229C>T (p.Asp743=)	THBS2, THBS2-AS1	Single nucleotide variant (synonymous variant +1 more)	THBS2-related disorder	GLikely benign
Select item 3043380	NM_003247.5(THBS2):c.2718C>T (p.Pro906=)	LOC126859908, THBS2 +1 more	Single nucleotide variant (synonymous variant +1 more)	THBS2-related disorder	GBenign
Select item 3042615	NM_003247.5(THBS2):c.*2C>T	THBS2, THBS2-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	THBS2-related disorder	GLikely benign
Select item 3041153	NM_003247.5(THBS2):c.2203G>A (p.Gly735Arg)	THBS2, THBS2-AS1 (G658R +2 more)	Single nucleotide variant (missense variant +1 more)	THBS2-related disorder	GLikely benign
Select item 3040957	NM_003247.5(THBS2):c.757G>A (p.Glu253Lys)	THBS2 (E176K +1 more)	Single nucleotide variant (missense variant +1 more)	THBS2-related disorder	GLikely benign
Select item 3040909	NM_003247.5(THBS2):c.2250C>G (p.Thr750=)	THBS2, THBS2-AS1	Single nucleotide variant (synonymous variant +1 more)	THBS2-related disorder	GLikely benign
Select item 3035373	NM_003247.5(THBS2):c.1129+9C>T	THBS2	Single nucleotide variant (intron variant)	THBS2-related disorder	GLikely benign
Select item 3034072	NM_003247.5(THBS2):c.3266C>T (p.Pro1089Leu)	THBS2, THBS2-AS1 (P1012L +2 more)	Single nucleotide variant (missense variant +1 more)	THBS2-related disorder	GBenign
Select item 3033637	NM_003247.5(THBS2):c.893C>T (p.Ser298Leu)	LOC126859909, THBS2 (S221L +1 more)	Single nucleotide variant (missense variant +1 more)	THBS2-related disorder	GBenign
Select item 3024639	GRCh37/hg19 6q26-27(chr6:162124972-170893669)x1	CCR6, CEP43 +33 more	Copy number loss	not provided	GPathogenic
Select item 2685220	GRCh37/hg19 6q27(chr6:169570833-169768359)x1	THBS2	Copy number loss	not provided	GUncertain significance
Select item 2685219	GRCh37/hg19 6q27(chr6:167091844-170919482)x1	AFDN, C6orf120 +22 more	Copy number loss	not provided	GPathogenic
Select item 2684468	GRCh37/hg19 6q27(chr6:169584218-169872314)x3	THBS2, WDR27	Copy number gain	not provided	GUncertain significance
Select item 2657144	NM_003247.5(THBS2):c.1068G>A (p.Pro356=)	THBS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2657143	NM_003247.5(THBS2):c.3243G>A (p.Ala1081=)	THBS2, THBS2-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2622278	NM_003247.5(THBS2):c.3286T>G (p.Trp1096Gly)	THBS2, THBS2-AS1 (W1096G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595667	NM_003247.5(THBS2):c.625G>A (p.Val209Ile)	THBS2 (V132I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2583044	GRCh37/hg19 6q25.3-27(chr6:160952761-170892276)x1	AFDN, AGPAT4 +37 more	Copy number loss	not provided	GPathogenic
Select item 2579276	GRCh38/hg38 6q26-27(chr6:161349282-170584790)x1	AFDN, AFDN-DT +255 more	Copy number loss	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GPathogenic
Select item 2571271	GRCh37/hg19 6q25.3-27(chr6:159006336-170713678)x3	ACAT2, AFDN +54 more	Copy number gain	not provided	GUncertain significance
Select item 2553633	NM_003247.5(THBS2):c.1679C>T (p.Pro560Leu)	THBS2, THBS2-AS1 (P483L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549400	NM_003247.5(THBS2):c.1544G>A (p.Arg515Gln)	THBS2, THBS2-AS1 (R438Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2536494	NM_003247.5(THBS2):c.2978A>G (p.Asn993Ser)	THBS2, THBS2-AS1 (N916S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533118	NM_003247.5(THBS2):c.342G>T (p.Glu114Asp)	THBS2 (E114D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521375	NM_003247.5(THBS2):c.2116G>T (p.Val706Phe)	THBS2, THBS2-AS1 (V629F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518056	NM_003247.5(THBS2):c.707C>A (p.Ala236Asp)	THBS2 (A159D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516757	NM_003247.5(THBS2):c.3010G>A (p.Glu1004Lys)	THBS2, THBS2-AS1 (E1004K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507620	NM_003247.5(THBS2):c.1600G>A (p.Val534Met)	THBS2, THBS2-AS1 (V457M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2492101	NM_003247.5(THBS2):c.2324G>A (p.Arg775His)	THBS2, THBS2-AS1 (R698H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487780	NM_003247.5(THBS2):c.2035G>A (p.Glu679Lys)	THBS2, THBS2-AS1 (E621K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487427	NM_003247.5(THBS2):c.1411A>G (p.Met471Val)	THBS2, THBS2-AS1 (M471V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480127	NM_003247.5(THBS2):c.888A>T (p.Arg296Ser)	THBS2 (R219S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457638	NM_003247.5(THBS2):c.2584G>A (p.Glu862Lys)	THBS2, THBS2-AS1 (E785K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411056	NM_003247.5(THBS2):c.734G>A (p.Arg245His)	THBS2 (R168H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2407858	NM_003247.5(THBS2):c.806C>T (p.Ser269Leu)	THBS2 (S269L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403460	NM_003247.5(THBS2):c.2680G>A (p.Asp894Asn)	THBS2, THBS2-AS1 (D836N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402294	NM_003247.5(THBS2):c.3082G>A (p.Val1028Ile)	THBS2, THBS2-AS1 (V951I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396795	NM_003247.5(THBS2):c.3514A>G (p.Ile1172Val)	THBS2, THBS2-AS1 (I1114V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2370953	NM_003247.5(THBS2):c.788C>T (p.Pro263Leu)	THBS2 (P263L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362593	NM_003247.5(THBS2):c.2591T>C (p.Ile864Thr)	THBS2, THBS2-AS1 (I787T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352222	NM_003247.5(THBS2):c.1019C>T (p.Thr340Met)	LOC126859909, THBS2 (T340M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345228	NM_003247.5(THBS2):c.672G>C (p.Lys224Asn)	THBS2 (K224N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340155	NM_003247.5(THBS2):c.526G>T (p.Asp176Tyr)	THBS2 (D99Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317164	NM_003247.5(THBS2):c.2053G>A (p.Ala685Thr)	THBS2, THBS2-AS1 (A627T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313819	NM_003247.5(THBS2):c.364G>C (p.Asp122His)	THBS2 (D122H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304775	NM_003247.5(THBS2):c.2129A>G (p.Asn710Ser)	THBS2, THBS2-AS1 (N633S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300739	NM_003247.5(THBS2):c.280G>T (p.Gly94Cys)	THBS2 (G17C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297347	NM_003247.5(THBS2):c.1883G>T (p.Gly628Val)	THBS2, THBS2-AS1 (G570V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282939	NM_003247.5(THBS2):c.3166C>T (p.Arg1056Trp)	THBS2, THBS2-AS1 (R1056W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276399	NM_003247.5(THBS2):c.2545G>A (p.Val849Met)	THBS2, THBS2-AS1 (V849M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2264648	NM_003247.5(THBS2):c.1705G>T (p.Asp569Tyr)	THBS2, THBS2-AS1 (D511Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263409	NM_003247.5(THBS2):c.1505C>T (p.Pro502Leu)	THBS2, THBS2-AS1 (P425L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2259648	NM_003247.5(THBS2):c.421G>A (p.Asp141Asn)	THBS2 (D141N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251514	NM_003247.5(THBS2):c.1228G>C (p.Val410Leu)	THBS2, THBS2-AS1 (V410L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242027	NM_003247.5(THBS2):c.803G>T (p.Arg268Leu)	THBS2 (R191L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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