WRAP73[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	ATAD3C, AURKAIP1 +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 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 152849	GRCh38/hg38 1p36.33-36.32(chr1:821713-4225085)x1	ACAP3, ACTRT2 +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 152050	GRCh38/hg38 1p36.33-36.31(chr1:821713-5480263)x1	ATAD3A, ATAD3B +341 more	Copy number loss	See cases	GPathogenic
Select item 149968	GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1	ACAP3, ACOT7 +449 more	Copy number loss	See cases	GPathogenic
Select item 149107	GRCh38/hg38 1p36.33-36.32(chr1:821713-3928354)x3	ACAP3, ACTRT2 +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 58245	GRCh38/hg38 1p36.33-36.32(chr1:821713-4155674)x1	SSU72, TAS1R3 +325 more	Copy number loss	See cases	GPathogenic
Select item 58037	GRCh38/hg38 1p36.33-36.32(chr1:826553-4719105)x3	LOC129929188, LOC129929189 +332 more	Copy number gain	See cases	GPathogenic
Select item 154642	GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1	ACAP3, ACOT7 +470 more	Copy number loss	See cases	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	TMEM201, TMEM240 +806 more	Copy number loss	See cases	GPathogenic
Select item 147354	GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1	ACAP3, ACOT7 +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	PLEKHN1, PRDM16 +441 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 57049	GRCh38/hg38 1p36.33-36.31(chr1:844347-5682587)x1	ACAP3, ACTRT2 +339 more	Copy number loss	See cases	GPathogenic
Select item 150566	GRCh38/hg38 1p36.33-36.31(chr1:844353-6477474)x1	LOC129929181, LOC129929182 +401 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 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 58314	GRCh38/hg38 1p36.33-36.32(chr1:872305-4133409)x1	MIR429, MIR551A +320 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	SDF4, SKI +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 154548	GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	ACAP3, ACOT7 +564 more	Copy number loss	See cases	GPathogenic
Select item 153663	GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	LOC129929186, LOC129929187 +577 more	Copy number loss	See cases	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 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 150863	GRCh38/hg38 1p36.33-36.32(chr1:1330915-3743546)x3	ACTRT2, ANKRD65 +195 more	Copy number gain	See cases	GUncertain significance
Select item 150036	GRCh38/hg38 1p36.33-36.32(chr1:1756301-3649513)x4	ACTRT2, ARHGEF16 +117 more	Copy number gain	See cases	GUncertain significance
Select item 2499639	GRCh38/hg38 1p36.32(chr1:2518272-4413203)	LOC126805582, LOC126805583 +88 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 58321	GRCh38/hg38 1p36.32(chr1:2683403-4729121)x1	ACTRT2, AJAP1 +79 more	Copy number loss	See cases	GPathogenic
Select item 57390	GRCh38/hg38 1p36.32-36.23(chr1:2844760-8007940)x1	ACOT7, ACTRT2 +226 more	Copy number loss	See cases	GPathogenic
Select item 152936	GRCh38/hg38 1p36.32-36.23(chr1:2868477-7332569)x1	LOC112577578, LOC112577579 +199 more	Copy number loss	See cases	GPathogenic
Select item 148513	GRCh38/hg38 1p36.32-36.31(chr1:2906020-5336116)x1	ACTRT2, AJAP1 +83 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	AADACL3, AADACL4 +804 more	Copy number loss	See cases	GPathogenic
Select item 146047	GRCh38/hg38 1p36.32(chr1:3354056-3743487)x3	ARHGEF16, LOC108281140 +24 more	Copy number gain	See cases	GUncertain significance
Select item 59852	GRCh38/hg38 1p36.32-36.23(chr1:3472163-7842947)x1	ACOT7, AJAP1 +193 more	Copy number loss	See cases	GPathogenic
Select item 2316270	NM_017818.4(WRAP73):c.1379C>T (p.Thr460Met)	WRAP73 (T460M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244500	NM_017818.4(WRAP73):c.1364A>T (p.Gln455Leu)	WRAP73 (Q455L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460013	NM_017818.4(WRAP73):c.1348G>A (p.Gly450Ser)	WRAP73 (G450S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2593052	NM_017818.4(WRAP73):c.1289T>C (p.Met430Thr)	WRAP73 (M430T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533001	NM_017818.4(WRAP73):c.1184G>A (p.Ser395Asn)	WRAP73 (S395N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515640	NM_017818.4(WRAP73):c.1157C>T (p.Pro386Leu)	WRAP73 (P386L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532679	NM_017818.4(WRAP73):c.1105G>A (p.Val369Met)	WRAP73 (V369M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620674	NM_017818.4(WRAP73):c.1064C>T (p.Ala355Val)	WRAP73 (A355V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548072	NM_017818.4(WRAP73):c.986C>T (p.Pro329Leu)	WRAP73 (P329L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377348	NM_017818.4(WRAP73):c.932C>T (p.Ala311Val)	WRAP73 (A311V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470668	NM_017818.4(WRAP73):c.878C>T (p.Pro293Leu)	WRAP73 (P293L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543775	NM_017818.4(WRAP73):c.842G>T (p.Ser281Ile)	WRAP73 (S281I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305339	NM_017818.4(WRAP73):c.827A>G (p.Lys276Arg)	WRAP73 (K276R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622622	NM_017818.4(WRAP73):c.796G>T (p.Ala266Ser)	WRAP73 (A266S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343989	NM_017818.4(WRAP73):c.725G>A (p.Ser242Asn)	WRAP73 (S242N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328527	NM_017818.4(WRAP73):c.610A>T (p.Ile204Phe)	WRAP73 (I204F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527743	NM_017818.4(WRAP73):c.565A>C (p.Asn189His)	WRAP73 (N189H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2638103	NM_017818.4(WRAP73):c.555G>A (p.Glu185=)	WRAP73	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2401793	NM_017818.4(WRAP73):c.490G>A (p.Val164Ile)	WRAP73 (V164I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308855	NM_017818.4(WRAP73):c.457C>T (p.Arg153Trp)	WRAP73 (R153W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467581	NM_017818.4(WRAP73):c.436C>T (p.Arg146Cys)	WRAP73 (R146C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260926	NM_017818.4(WRAP73):c.385A>G (p.Ile129Val)	WRAP73 (I129V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599794	NM_017818.4(WRAP73):c.376G>A (p.Val126Met)	WRAP73 (V126M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303992	NM_017818.4(WRAP73):c.311G>A (p.Arg104His)	WRAP73 (R104H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508201	NM_017818.4(WRAP73):c.202T>A (p.Tyr68Asn)	WRAP73 (Y68N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390287	NM_017818.4(WRAP73):c.120G>T (p.Gln40His)	WRAP73 (Q40H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605822	NM_017818.4(WRAP73):c.119A>G (p.Gln40Arg)	WRAP73 (Q40R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568766	NM_017818.4(WRAP73):c.88C>T (p.Arg30Trp)	WRAP73 (R30W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617802	NM_017818.4(WRAP73):c.74C>G (p.Ser25Cys)	WRAP73 (S25C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3063066	GRCh37/hg19 1p36.33-36.31(chr1:1959612-5471235)x1	ACTRT2, AJAP1 +27 more	Copy number loss	not specified	GPathogenic
Select item 2685792	GRCh37/hg19 1p36.33-36.32(chr1:1687675-3638712)x3	ACTRT2, ARHGEF16 +25 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 2685288	GRCh37/hg19 1p36.32(chr1:2694517-4317372)x1	ACTRT2, ARHGEF16 +13 more	Copy number loss	not provided	GUncertain significance
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 2574677	GRCh37/hg19 1p36.33-36.31(chr1:1957148-6553454)	AJAP1, ACOT7 +40 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2570762	GRCh37/hg19 1p36.33-36.31(chr1:536777-6012896)x1	TMEM88B, TNFRSF14 +79 more	Copy number loss	not provided	GPathogenic
Select item 1809004	GRCh37/hg19 1p36.32(chr1:2974212-4408415)x3	ARHGEF16, C1orf174 +11 more	Copy number gain	not provided	GUncertain significance
Select item 1808734	GRCh37/hg19 1p36.33-36.32(chr1:2173570-5023430)x1	ACTRT2, AJAP1 +24 more	Copy number loss	not provided	GPathogenic
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 1808375	GRCh37/hg19 1p36.33-36.32(chr1:2194087-4738355)x3	C1orf174, ACTRT2 +24 more	Copy number gain	not provided	GUncertain significance
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 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	AURKAIP1, B3GALT6 +101 more	Copy number loss	Chromosome 1p36 deletion syndrome	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 1177499	GRCh37/hg19 1p36.32-36.23(chr1:2420003-8155935)x1	SMIM1, ZBTB48 +47 more	Copy number loss	Chromosome 1p36 deletion syndrome	Gnot provided
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 980932	GRCh37/hg19 1p36.32(chr1:3202162-4143527)x3	ARHGEF16, C1orf174 +11 more	Copy number gain	not provided	GUncertain significance
Select item 976729	GRCh37/hg19 1p36.33-36.23(chr1:762080-7309686)	HES2, HES3 +98 more	Copy number loss	Harel-Yoon syndrome	GLikely pathogenic
Select item 974581	Single allele	ACTRT2, ARHGEF16 +32 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 814048	GRCh37/hg19 1p36.33-36.32(chr1:849466-4829059)x1	ACAP3, ACTRT2 +77 more	Copy number loss	not provided	GPathogenic

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