ClinVar for Gene (Select 54973) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 3110115	NM_017871.6(INTS11):c.907A>G (p.Lys303Glu)	INTS11 (K274E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110114	NM_017871.6(INTS11):c.847A>G (p.Ile283Val)	INTS11 (I185V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110113	NM_017871.6(INTS11):c.71T>C (p.Ile24Thr)	INTS11 (I24T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3110112	NM_017871.6(INTS11):c.587G>A (p.Arg196His)	INTS11 (R196H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110111	NM_017871.6(INTS11):c.586C>T (p.Arg196Cys)	INTS11 (R196C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110110	NM_017871.6(INTS11):c.472G>A (p.Val158Met)	INTS11 (V164M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110109	NM_017871.6(INTS11):c.430G>A (p.Val144Ile)	INTS11 (V43I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110108	NM_017871.6(INTS11):c.331G>A (p.Ala111Thr)	INTS11 (A111T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110107	NM_017871.6(INTS11):c.282C>A (p.His94Gln)	INTS11 (H100Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110106	NM_017871.6(INTS11):c.249G>A (p.Met83Ile)	INTS11 (M89I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110105	NM_017871.6(INTS11):c.23C>T (p.Pro8Leu)	INTS11 (P8L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3110104	NM_017871.6(INTS11):c.226G>A (p.Ala76Thr)	INTS11 (A82T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110103	NM_017871.6(INTS11):c.191T>C (p.Val64Ala)	INTS11 (V64A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 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 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 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 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 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 3067946	NM_017871.6(INTS11):c.679G>A (p.Glu227Lys)	INTS11 (E126K +4 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities	GUncertain significance
Select item 3065624	NM_017871.6(INTS11):c.691C>T (p.Arg231Cys)	INTS11 (R130C +4 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities	GUncertain significance
Select item 3063255	GRCh37/hg19 1p36.33-36.32(chr1:849466-4529103)x3	ACAP3, ACTRT2 +76 more	Copy number gain	not specified	GPathogenic
Select item 3063233	GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	RNF207, RNF223 +108 more	Copy number loss	not specified	GPathogenic
Select item 2685790	GRCh37/hg19 1p36.33(chr1:1138880-1647481)x3	MMP23B, SSU72 +29 more	Copy number gain	not provided	GUncertain significance
Select item 2685789	GRCh37/hg19 1p36.33-36.32(chr1:1129319-3615916)x3	MIR551A, PANK4 +58 more	Copy number gain	not provided	GPathogenic
Select item 2685787	GRCh37/hg19 1p36.33-36.32(chr1:1089596-2607016)x3	MMEL1, PEX10 +53 more	Copy number gain	not provided	GUncertain significance
Select item 2685277	GRCh37/hg19 1p36.33-36.32(chr1:1182855-2431925)x1	TMEM88B, UBE2J2 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 2685266	GRCh37/hg19 1p36.33-36.32(chr1:849467-3500877)x1	SCNN1D, SDF4 +67 more	Copy number loss	not provided	GPathogenic
Select item 2685244	GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1	ACAP3, ACOT7 +116 more	Copy number loss	not provided	GPathogenic
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 2623523	NM_017871.6(INTS11):c.881T>G (p.Phe294Cys)	INTS11 (F196C +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 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 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 2580096	NM_017871.6(INTS11):c.721G>A (p.Ala241Thr)	INTS11 (A140T +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2570762	GRCh37/hg19 1p36.33-36.31(chr1:536777-6012896)x1	ACAP3, ACTRT2 +79 more	Copy number loss	not provided	GPathogenic
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 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 2507230	NM_017871.6(INTS11):c.470A>G (p.His157Arg)	INTS11 (H128R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2507229	NM_017871.6(INTS11):c.636C>G (p.Asp212Glu)	INTS11 (D111E +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506983	NM_017871.6(INTS11):c.50G>T (p.Arg17Leu)	INTS11 (R23L +1 more)	Single nucleotide variant (missense variant +2 more)	Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities	GPathogenic
Select item 2506982	NM_017871.6(INTS11):c.163G>A (p.Gly55Ser)	INTS11 (G61S +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities	GPathogenic
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 2506980	NM_017871.6(INTS11):c.412C>T (p.Leu138Phe)	INTS11 (L144F +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities	GPathogenic
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 2501007	GRCh37/hg19 1p36.33-36.32(chr1:1-2580976)x1	ACAP3, AGRN +65 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
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 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 2469162	NM_017871.6(INTS11):c.437A>G (p.Asp146Gly)	INTS11 (D117G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467438	NM_017871.6(INTS11):c.545C>T (p.Thr182Ile)	INTS11 (T84I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425111	NC_000001.10:g.(?_1249188)_(1284445_?)dup	TAS1R3, CPTP +2 more	Duplication	not provided	GUncertain significance
Select item 1809089	GRCh37/hg19 1p36.33-36.32(chr1:1130311-2397177)x3	ACAP3, ANKRD65 +43 more	Copy number gain	not provided	GUncertain significance
Select item 1808915	GRCh37/hg19 1p36.33(chr1:1129319-1264880)x1	ACAP3, B3GALT6 +10 more	Copy number loss	not provided	GUncertain significance
Select item 1808634	GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1	ACAP3, ACOT7 +159 more	Copy number loss	not provided	GPathogenic
Select item 1807723	GRCh37/hg19 1p36.33-36.32(chr1:849467-2972435)x1	ACAP3, ACTRT2 +63 more	Copy number loss	not provided	GPathogenic
Select item 1706500	GRCh37/hg19 1p36.33-36.32(chr1:849466-2518608)x1	ACAP3, AGRN +60 more	Copy number loss	See cases	GPathogenic
Select item 1703629	GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804)	GPR157, H6PD +124 more	Copy number loss	Chromosome 1p36 deletion syndrome, proximal	GPathogenic
Select item 1703628	GRCh37/hg19 1p36.33-36.32(chr1:849466-4183006)	ACAP3, ACTRT2 +76 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1703627	GRCh37/hg19 1p36.33-36.31(chr1:849466-5625566)	TNFRSF18, TNFRSF4 +77 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1684638	Single allele	TMEM240, TMEM88B +181 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1512587	NC_000001.10:g.(?_1235211)_(1326995_?)del	AURKAIP1, CCNL2 +7 more	Deletion	not provided	GUncertain significance
Select item 1449306	NC_000001.10:g.(?_989123)_(3160711_?)del	RNF223, SCNN1D +58 more	Deletion	Left ventricular noncompaction 8	GUncertain significance
Select item 1443760	NC_000001.10:g.(?_955553)_(3350375_?)del	ACAP3, ACTRT2 +58 more	Deletion	Left ventricular noncompaction 8	GUncertain significance
Select item 1412663	NC_000001.10:g.(?_861322)_(3768971_?)del	AGRN, MIB2 +74 more	Deletion	Peroxisome biogenesis disorder, complementation group 7	GPathogenic
Select item 1341993	GRCh37/hg19 1p36.33-36.23(chr1:834101-7930605)x1	ACAP3, ACOT7 +101 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1341246	GRCh37/hg19 1p36.33-36.32(chr1:849466-2621542)x1	ACAP3, AGRN +62 more	Copy number loss	not provided	GPathogenic
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 1328099	GRCh37/hg19 1p36.33-36.32(chr1:753552-4034574)x1	ACAP3, ACTRT2 +76 more	Copy number loss	not provided	GPathogenic
Select item 1290897	NM_017871.6(INTS11):c.882C>T (p.Phe294=)	INTS11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1266568	NM_017871.6(INTS11):c.1607+18C>A	INTS11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1008424	NC_000001.10:g.(?_948954)_(1284445_?)dup	INTS11, ISG15 +19 more	Duplication	not provided	GUncertain significance
Select item 988904	GRCh37/hg19 1p36.33(chr1:753462-1717335)x1	TMEM88B, TNFRSF18 +45 more	Copy number loss	not provided	GPathogenic
Select item 980940	GRCh37/hg19 1p36.33-36.31(chr1:1-5592835)x1	ACAP3, ACTRT2 +80 more	Copy number loss	not provided	GPathogenic
Select item 980936	GRCh37/hg19 1p36.33(chr1:849466-1976788)x1	ATAD3B, ATAD3C +49 more	Copy number loss	not provided	GPathogenic
Select item 980935	GRCh37/hg19 1p36.33(chr1:849466-2033256)x1	ACAP3, AGRN +50 more	Copy number loss	not provided	GPathogenic
Select item 980934	GRCh37/hg19 1p36.33(chr1:849466-1806659)x1	ACAP3, AGRN +45 more	Copy number loss	not provided	GLikely pathogenic
Select item 976729	GRCh37/hg19 1p36.33-36.23(chr1:762080-7309686)	ISG15, SLC35E2A +98 more	Copy number loss	Harel-Yoon syndrome	GLikely pathogenic
Select item 833146	NC_000001.10:g.(?_955543)_(3350385_?)del	ACAP3, ACTRT2 +58 more	Deletion	Left ventricular noncompaction 8	GUncertain significance
Select item 832780	NC_000001.10:g.(?_955543)_(2238214_?)del	C1orf159, ANKRD65 +46 more	Deletion	Congenital myasthenic syndrome 8	GPathogenic
Select item 832325	NC_000001.11:g.(?_1013554)_(1313808_?)del	ACAP3, AGRN +16 more	Deletion	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +1 more	GUncertain significance
Select item 816486	GRCh37/hg19 1p36.33-36.32(chr1:82154-3349513)x3	ACAP3, ACTRT2 +66 more	Copy number gain	See cases	GPathogenic
Select item 814048	GRCh37/hg19 1p36.33-36.32(chr1:849466-4829059)x1	ACAP3, ACTRT2 +77 more	Copy number loss	not provided	GPathogenic
Select item 814047	GRCh37/hg19 1p36.33-36.31(chr1:849466-5625566)x1	ACAP3, ACTRT2 +77 more	Copy number loss	not provided	GPathogenic
Select item 814046	GRCh37/hg19 1p36.33-36.31(chr1:849466-6002955)x1	ACAP3, ACTRT2 +78 more	Copy number loss	not provided	GPathogenic
Select item 814045	GRCh37/hg19 1p36.33-36.23(chr1:849466-7786545)x1	ACAP3, ACOT7 +98 more	Copy number loss	not provided	GPathogenic

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