7058[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	LOC101929460, LOC102724087 +572 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	LOC129997640, LOC129997641 +564 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	ACAT2, AFDN +549 more	Copy number loss	See cases	GPathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	IGF2R, KIF25 +540 more	Copy number loss	See cases	GPathogenic
Select item 58455	GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1	LOC126859858, LOC126859859 +340 more	Copy number loss	See cases	GPathogenic
Select item 58456	GRCh38/hg38 6q25.3-27(chr6:159825913-170612001)x1	AFDN, AFDN-DT +322 more	Copy number loss	See cases	GPathogenic
Select item 150838	GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1	LOC129997629, LOC129997630 +323 more	Copy number loss	See cases	GPathogenic
Select item 58458	GRCh38/hg38 6q25.3-27(chr6:160359686-170608818)x1	AFDN, AFDN-DT +300 more	Copy number loss	See cases	GPathogenic
Select item 144539	GRCh38/hg38 6q25.3-27(chr6:160484810-170612011)x1	AFDN, AFDN-DT +298 more	Copy number loss	See cases	GPathogenic
Select item 155552	GRCh38/hg38 6q26-27(chr6:160899898-170610394)x1	AFDN, AFDN-DT +278 more	Copy number loss	See cases	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 58468	GRCh38/hg38 6q26-27(chr6:162042846-170608818)x1	LOC129997659, LOC129997660 +248 more	Copy number loss	See cases	GPathogenic
Select item 58469	GRCh38/hg38 6q26-27(chr6:162789915-170602152)x1	AFDN, AFDN-DT +244 more	Copy number loss	See cases	GPathogenic
Select item 58470	GRCh38/hg38 6q26-27(chr6:163420224-170608818)x1	AFDN, AFDN-DT +225 more	Copy number loss	See cases	GPathogenic
Select item 146089	GRCh38/hg38 6q27(chr6:164790270-170612001)x1	AFDN, AFDN-DT +204 more	Copy number loss	See cases	GPathogenic
Select item 58472	GRCh38/hg38 6q27(chr6:166370159-170602152)x1	AFDN, AFDN-DT +169 more	Copy number loss	See cases	GPathogenic
Select item 148449	GRCh38/hg38 6q27(chr6:167145050-170714507)x1	AFDN, AFDN-DT +112 more	Copy number loss	See cases	GPathogenic
Select item 155515	GRCh38/hg38 6q27(chr6:167760366-170610394)x1	AFDN, AFDN-DT +87 more	Copy number loss	See cases	GPathogenic
Select item 152206	GRCh38/hg38 6q27(chr6:167896913-170714507)x1	AFDN, C6orf120 +78 more	Copy number loss	See cases	GPathogenic
Select item 58474	GRCh38/hg38 6q27(chr6:167924952-170602152)x1	PHF10, PSMB1 +77 more	Copy number loss	See cases	GPathogenic
Select item 150709	GRCh38/hg38 6q27(chr6:167963618-170597678)x1	AFDN, C6orf120 +77 more	Copy number loss	See cases	GPathogenic
Select item 58475	GRCh38/hg38 6q27(chr6:168180473-170583214)x1	C6orf120, DACT2 +68 more	Copy number loss	See cases	GPathogenic
Select item 57303	GRCh38/hg38 6q27(chr6:168524169-170612001)x1	C6orf120, DLL1 +60 more	Copy number loss	See cases	GPathogenic
Select item 151758	GRCh38/hg38 6q27(chr6:168581259-170610394)x1	C6orf120, DLL1 +60 more	Copy number loss	See cases	GPathogenic
Select item 148570	GRCh38/hg38 6q27(chr6:168802993-170714507)x1	C6orf120, DLL1 +57 more	Copy number loss	See cases	GLikely pathogenic
Select item 150922	GRCh38/hg38 6q27(chr6:168861627-169441437)x3	LINC01615, LINC02519 +15 more	Copy number gain	See cases	GLikely benign
Select item 148678	GRCh38/hg38 6q27(chr6:168881467-170602152)x1	C6orf120, DLL1 +56 more	Copy number loss	See cases	GPathogenic
Select item 58487	GRCh38/hg38 6q27(chr6:169021176-170602152)x1	C6orf120, DLL1 +54 more	Copy number loss	See cases	GPathogenic
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 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 787843	NM_003247.5(THBS2):c.3441C>T (p.Gly1147=)	THBS2, THBS2-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 711867	NM_003247.5(THBS2):c.3354C>G (p.Pro1118=)	THBS2, THBS2-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 771721	NM_003247.5(THBS2):c.3296C>T (p.Pro1099Leu)	THBS2, THBS2-AS1 (P1099L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 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 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 711868	NM_003247.5(THBS2):c.3240C>T (p.Asn1080=)	THBS2, THBS2-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 747332	NM_003247.5(THBS2):c.3216G>A (p.Thr1072=)	THBS2, THBS2-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 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 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 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 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 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 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 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 787309	NM_003247.5(THBS2):c.2994C>T (p.Ile998=)	THBS2, THBS2-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 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 721973	NM_003247.5(THBS2):c.2706C>T (p.Asn902=)	LOC126859908, THBS2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 793350	NM_003247.5(THBS2):c.2683G>A (p.Ala895Thr)	THBS2, THBS2-AS1 (A895T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 2224193	NM_003247.5(THBS2):c.2644G>A (p.Ala882Thr)	THBS2, THBS2-AS1 (A805T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 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 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 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 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 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 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 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 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 778927	NM_003247.5(THBS2):c.2202C>T (p.Asp734=)	THBS2, THBS2-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	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 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 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 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 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 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 783481	NM_003247.5(THBS2):c.2009A>T (p.His670Leu)	THBS2, THBS2-AS1 (H670L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 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 3352594	NM_003247.5(THBS2):c.1780-4G>A	THBS2, THBS2-AS1	Single nucleotide variant (intron variant)	THBS2-related disorder	GBenign
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 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 784104	NM_003247.5(THBS2):c.1671C>G (p.Pro557=)	THBS2, THBS2-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 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 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 12713	NM_003247.5(THBS2):c.1478-8C>T	THBS2, THBS2-AS1	Single nucleotide variant (intron variant)	THBS2-related disorder +1 more	GBenign; risk factor
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 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 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 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 709115	NM_003247.5(THBS2):c.1297C>T (p.Arg433Cys)	THBS2, THBS2-AS1 (R433C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 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 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 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 3059518	NM_003247.5(THBS2):c.1173C>T (p.Thr391=)	THBS2, THBS2-AS1	Single nucleotide variant (synonymous variant +1 more)	THBS2-related disorder	GBenign

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