INTS11[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 58242	GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	LOC129929074, LOC129929075 +520 more	Copy number loss	See cases	GPathogenic
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929144, LOC129929145 +458 more	Copy number loss	See cases	GPathogenic
Select item 58243	GRCh38/hg38 1p36.33-36.32(chr1:629044-3346226)x1	LOC129929179, LOC129929180 +282 more	Copy number loss	See cases	GPathogenic
Select item 151451	GRCh38/hg38 1p36.33-36.32(chr1:778698-4898439)x1	ACAP3, ACTRT2 +336 more	Copy number loss	See cases	GPathogenic
Select item 58036	GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3	LINC01786, LINC02593 +338 more	Copy number gain	See cases	GPathogenic
Select item 1684638	Single allele	TMEM240, TMEM88B +181 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 152849	GRCh38/hg38 1p36.33-36.32(chr1:821713-4225085)x1	LOC129929191, LOC129929192 +325 more	Copy number loss	See cases	GPathogenic
Select item 152807	GRCh38/hg38 1p36.33-36.32(chr1:821713-5099990)x1	ACAP3, ACTRT2 +337 more	Copy number loss	See cases	GPathogenic
Select item 152695	GRCh38/hg38 1p36.33-36.32(chr1:821713-2976123)x1	ACAP3, AGRN +254 more	Copy number loss	See cases	GPathogenic
Select item 152675	GRCh38/hg38 1p36.33-36.32(chr1:821713-2636393)x1	LOC129929104, LOC129929105 +249 more	Copy number loss	See cases	GPathogenic
Select item 152050	GRCh38/hg38 1p36.33-36.31(chr1:821713-5480263)x1	VWA1, WRAP73 +341 more	Copy number loss	See cases	GPathogenic
Select item 151110	GRCh38/hg38 1p36.33-36.32(chr1:821713-2554047)x1	ACAP3, AGRN +243 more	Copy number loss	See cases	GPathogenic
Select item 150995	GRCh38/hg38 1p36.33-36.32(chr1:821713-3438208)x1	ACAP3, ACTRT2 +275 more	Copy number loss	See cases	GPathogenic
Select item 149968	GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1	CEP104, CFAP74 +449 more	Copy number loss	See cases	GPathogenic
Select item 149171	GRCh38/hg38 1p36.33-36.32(chr1:821713-3569891)x1	ACAP3, ACTRT2 +284 more	Copy number loss	See cases	GPathogenic
Select item 149107	GRCh38/hg38 1p36.33-36.32(chr1:821713-3928354)x3	LOC129929084, LOC129929085 +320 more	Copy number gain	See cases	GLikely pathogenic
Select item 148916	GRCh38/hg38 1p36.33-36.32(chr1:821713-5239643)x1	ACAP3, ACTRT2 +337 more	Copy number loss	See cases	GPathogenic
Select item 148829	GRCh38/hg38 1p36.33-36.32(chr1:821713-2463016)x4	ACAP3, AGRN +238 more	Copy number gain	See cases	GUncertain significance
Select item 148825	GRCh38/hg38 1p36.33-36.32(chr1:821713-2463016)x1	ACAP3, AGRN +238 more	Copy number loss	See cases	GPathogenic
Select item 58245	GRCh38/hg38 1p36.33-36.32(chr1:821713-4155674)x1	ACAP3, ACTRT2 +325 more	Copy number loss	See cases	GPathogenic
Select item 58037	GRCh38/hg38 1p36.33-36.32(chr1:826553-4719105)x3	ACAP3, ACTRT2 +332 more	Copy number gain	See cases	GPathogenic
Select item 160923	GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1	ACAP3, AGRN +244 more	Copy number loss	See cases	GPathogenic
Select item 154642	GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1	PUSL1, RER1 +470 more	Copy number loss	See cases	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 147354	GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1	LOC129929192, LOC129929193 +490 more	Copy number loss	See cases	GPathogenic
Select item 144707	GRCh38/hg38 1p36.33-36.32(chr1:844347-4398122)x1	ACAP3, ACTRT2 +325 more	Copy number loss	See cases	GPathogenic
Select item 144461	GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1	ACAP3, ACOT7 +441 more	Copy number loss	See cases	GPathogenic
Select item 58292	GRCh38/hg38 1p36.33(chr1:844347-2131805)x1	ACAP3, AGRN +205 more	Copy number loss	See cases	GPathogenic
Select item 58289	GRCh38/hg38 1p36.33-36.32(chr1:844347-4665295)x1	ACAP3, ACTRT2 +329 more	Copy number loss	See cases	GPathogenic
Select item 57440	GRCh38/hg38 1p36.33-36.31(chr1:844347-6477436)x1	ACAP3, ACOT7 +401 more	Copy number loss	See cases	GPathogenic
Select item 57218	GRCh38/hg38 1p36.33-36.32(chr1:844347-3712147)x1	ACAP3, ACTRT2 +292 more	Copy number loss	See cases	GPathogenic
Select item 57201	GRCh38/hg38 1p36.33-36.32(chr1:844347-3006252)x1	LOC129929161, LOC129929162 +252 more	Copy number loss	See cases	GPathogenic
Select item 57120	GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1	LOC129929114, LOC129929115 +244 more	Copy number loss	See cases	GPathogenic
Select item 57052	GRCh38/hg38 1p36.33-36.32(chr1:844347-3319395)x1	ACAP3, ACTRT2 +270 more	Copy number loss	See cases	GPathogenic
Select item 57049	GRCh38/hg38 1p36.33-36.31(chr1:844347-5682587)x1	LINC01786, LINC02593 +339 more	Copy number loss	See cases	GPathogenic
Select item 150566	GRCh38/hg38 1p36.33-36.31(chr1:844353-6477474)x1	LOC129929237, LOC129929238 +401 more	Copy number loss	See cases	GPathogenic
Select item 149739	GRCh38/hg38 1p36.33-36.32(chr1:844353-3153909)x1	ACAP3, ACTRT2 +260 more	Copy number loss	See cases	GPathogenic
Select item 145360	GRCh38/hg38 1p36.33-36.31(chr1:844353-5827192)x3	ACAP3, ACTRT2 +341 more	Copy number gain	See cases	GPathogenic
Select item 145356	GRCh38/hg38 1p36.33-36.32(chr1:844353-3487877)x1	ACAP3, ACTRT2 +274 more	Copy number loss	See cases	GPathogenic
Select item 144576	GRCh38/hg38 1p36.33-36.32(chr1:844353-2420916)x1	ACAP3, AGRN +234 more	Copy number loss	See cases	GPathogenic
Select item 58293	GRCh38/hg38 1p36.33-36.32(chr1:845437-2523513)x1	ACAP3, AGRN +237 more	Copy number loss	See cases	GPathogenic
Select item 58294	GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1	ACAP3, ACOT7 +519 more	Copy number loss	See cases	GPathogenic
Select item 58311	GRCh38/hg38 1p36.33-36.32(chr1:870177-4426613)x1	ACAP3, ACTRT2 +325 more	Copy number loss	See cases	GPathogenic
Select item 58316	GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x1	ACAP3, AGRN +246 more	Copy number loss	See cases	GPathogenic
Select item 58315	GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x3	ACAP3, AGRN +246 more	Copy number gain	See cases	GPathogenic
Select item 58314	GRCh38/hg38 1p36.33-36.32(chr1:872305-4133409)x1	ACAP3, ACTRT2 +320 more	Copy number loss	See cases	GPathogenic
Select item 58313	GRCh38/hg38 1p36.33-36.32(chr1:872305-3054463)x1	LOC126805582, LOC129388419 +253 more	Copy number loss	See cases	GPathogenic
Select item 58312	GRCh38/hg38 1p36.33(chr1:872305-2047715)x1	ACAP3, AGRN +198 more	Copy number loss	See cases	GPathogenic
Select item 147545	GRCh38/hg38 1p36.33-36.32(chr1:874379-4973261)x1	ACAP3, ACTRT2 +328 more	Copy number loss	See cases	GPathogenic
Select item 154584	GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1	LOC129929075, LOC129929076 +464 more	Copy number loss	See cases	GPathogenic
Select item 153078	GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	ACAP3, ACOT7 +578 more	Copy number loss	See cases	GPathogenic
Select item 154687	GRCh38/hg38 1p36.33-36.32(chr1:911300-2963389)x1	ACAP3, AGRN +247 more	Copy number loss	See cases	GPathogenic
Select item 154548	GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	LRRC47, MEGF6 +564 more	Copy number loss	See cases	GPathogenic
Select item 144176	GRCh38/hg38 1p36.33-36.32(chr1:911300-3614487)x3	ACAP3, ACTRT2 +277 more	Copy number gain	See cases	GPathogenic
Select item 155157	GRCh38/hg38 1p36.33(chr1:914086-1613769)x1	ACAP3, AGRN +146 more	Copy number loss	See cases	GPathogenic
Select item 154003	GRCh38/hg38 1p36.33(chr1:914086-1538895)x1	ACAP3, AGRN +136 more	Copy number loss	See cases	GLikely pathogenic
Select item 153663	GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	LOC129929302, LOC129929303 +577 more	Copy number loss	See cases	GPathogenic
Select item 153195	GRCh38/hg38 1p36.33-36.32(chr1:914086-3587042)x1	ACAP3, ACTRT2 +277 more	Copy number loss	See cases	GPathogenic
Select item 152333	GRCh38/hg38 1p36.33-36.32(chr1:914086-3305463)x1	ACAP3, ACTRT2 +264 more	Copy number loss	See cases	GPathogenic
Select item 152331	GRCh38/hg38 1p36.33-36.32(chr1:914086-2465738)x1	LOC129929169, LOC129929170 +231 more	Copy number loss	See cases	GPathogenic
Select item 145604	GRCh38/hg38 1p36.33(chr1:932163-1792271)x4	ACAP3, AGRN +168 more	Copy number gain	See cases	GLikely benign
Select item 144721	GRCh38/hg38 1p36.33(chr1:1013081-1722599)x1	ACAP3, AGRN +137 more	Copy number loss	See cases	GPathogenic
Select item 541215	NC_000001.11:g.(?_1020153)_(1313808_?)del	LOC126805576, LOC126805577 +68 more	Deletion	Congenital myasthenic syndrome 8	GPathogenic
Select item 148305	GRCh38/hg38 1p36.33-36.32(chr1:1022094-4665295)x1	ACAP3, ACTRT2 +301 more	Copy number loss	See cases	GPathogenic
Select item 149947	GRCh38/hg38 1p36.33-36.32(chr1:1072906-2806838)x1	ACAP3, ANKRD65 +209 more	Copy number loss	See cases	GPathogenic
Select item 144807	GRCh38/hg38 1p36.33-36.32(chr1:1118636-4179080)x1	ACAP3, ACTRT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 58318	GRCh38/hg38 1p36.33-36.31(chr1:1181847-5507243)x1	ACAP3, ACTRT2 +273 more	Copy number loss	See cases	GPathogenic
Select item 3110102	NM_017871.6(INTS11):c.1789C>G (p.Gln597Glu)	INTS11 (Q496E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720217	NM_017871.6(INTS11):c.1740C>T (p.Asp580=)	INTS11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3110101	NM_017871.6(INTS11):c.1646G>A (p.Gly549Asp)	INTS11 (G451D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110100	NM_017871.6(INTS11):c.1640C>G (p.Pro547Arg)	INTS11 (P446R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110099	NM_017871.6(INTS11):c.1621C>T (p.His541Tyr)	INTS11 (H443Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110098	NM_017871.6(INTS11):c.1616A>G (p.Lys539Arg)	INTS11 (K510R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1266568	NM_017871.6(INTS11):c.1607+18C>A	INTS11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3110097	NM_017871.6(INTS11):c.1595G>A (p.Ser532Asn)	INTS11 (S431N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517988	NM_017871.6(INTS11):c.1586G>A (p.Arg529His)	INTS11 (R428H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110096	NM_017871.6(INTS11):c.1583T>C (p.Leu528Ser)	INTS11 (L528S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594042	NM_017871.6(INTS11):c.1573G>C (p.Glu525Gln)	INTS11 (E424Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110094	NM_017871.6(INTS11):c.1546C>T (p.His516Tyr)	INTS11 (H487Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506981	NM_017871.6(INTS11):c.1543G>A (p.Val515Met)	INTS11 (V521M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562574	NM_017871.6(INTS11):c.1540C>T (p.Arg514Cys)	INTS11 (R514C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110093	NM_017871.6(INTS11):c.1453A>G (p.Met485Val)	INTS11 (M384V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110092	NM_017871.6(INTS11):c.1429C>T (p.Arg477Trp)	INTS11 (R448W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110091	NM_017871.6(INTS11):c.1418C>T (p.Ala473Val)	INTS11 (A372V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110090	NM_017871.6(INTS11):c.1417G>A (p.Ala473Thr)	INTS11 (A479T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110089	NM_017871.6(INTS11):c.1403G>A (p.Gly468Glu)	INTS11 (G367E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110088	NM_017871.6(INTS11):c.1401G>C (p.Gln467His)	INTS11 (Q366H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110087	NM_017871.6(INTS11):c.1387C>T (p.Arg463Trp)	INTS11 (R434W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110086	NM_017871.6(INTS11):c.1347C>G (p.Ser449Arg)	INTS11 (S420R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589383	NM_017871.6(INTS11):c.1328C>T (p.Thr443Met)	INTS11 (T342M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110085	NM_017871.6(INTS11):c.1297G>C (p.Val433Leu)	INTS11 (V335L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506979	NM_017871.6(INTS11):c.1240C>T (p.His414Tyr)	INTS11 (H420Y +4 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities	GPathogenic
Select item 3110084	NM_017871.6(INTS11):c.1214C>T (p.Ala405Val)	INTS11 (A405V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110083	NM_017871.6(INTS11):c.1160T>C (p.Met387Thr)	INTS11 (M358T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110082	NM_017871.6(INTS11):c.1138G>A (p.Val380Ile)	INTS11 (V351I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486592	NM_017871.6(INTS11):c.1111G>A (p.Glu371Lys)	INTS11 (E270K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580101	NM_017871.6(INTS11):c.983T>A (p.Leu328Gln)	INTS11 (L227Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2493073	NM_017871.6(INTS11):c.961G>C (p.Val321Leu)	INTS11 (V220L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3236609	NM_017871.6(INTS11):c.936dup (p.Ala313fs)	INTS11 (A212fs +4 more)	Duplication (frameshift variant)	Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities	GLikely pathogenic

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