24026[HGNC] - 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	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 58242	GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	LOC121967050, LOC121967051 +520 more	Copy number loss	See cases	GPathogenic
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929262, LOC129929263 +458 more	Copy number loss	See cases	GPathogenic
Select item 58243	GRCh38/hg38 1p36.33-36.32(chr1:629044-3346226)x1	LOC129929093, LOC129929110 +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 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 152050	GRCh38/hg38 1p36.33-36.31(chr1:821713-5480263)x1	VWA1, WRAP73 +341 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 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 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 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 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 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	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 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 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 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 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	LOC129929178, LOC129929179 +195 more	Copy number gain	See cases	GUncertain significance
Select item 58319	GRCh38/hg38 1p36.33-36.32(chr1:1482278-3152536)x1	ACTRT2, ATAD3A +125 more	Copy number loss	See cases	GPathogenic
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)	ACTRT2, ARHGEF16 +88 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 58040	GRCh38/hg38 1p36.32(chr1:2659405-3273322)x3	ACTRT2, LOC112577578 +13 more	Copy number gain	See cases	GPathogenic
Select item 58321	GRCh38/hg38 1p36.32(chr1:2683403-4729121)x1	ACTRT2, AJAP1 +79 more	Copy number loss	See cases	GPathogenic
Select item 153267	GRCh38/hg38 1p36.32(chr1:2688448-3286320)x3	ACTRT2, LOC110120751 +15 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 146771	GRCh38/hg38 1p36.32(chr1:2701912-3244554)x3	ACTRT2, LOC112577578 +13 more	Copy number gain	See cases	GLikely benign
Select item 144367	GRCh38/hg38 1p36.32(chr1:2701929-3319395)x1	ACTRT2, LOC105378604 +20 more	Copy number loss	See cases	GUncertain significance
Select item 144153	GRCh38/hg38 1p36.32(chr1:2701929-3244518)x3	ACTRT2, LOC112577578 +13 more	Copy number gain	See cases	GUncertain significance
Select item 146248	GRCh38/hg38 1p36.32(chr1:2778184-3528282)x3	ACTRT2, ARHGEF16 +29 more	Copy number gain	See cases	GLikely benign
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 153985	GRCh38/hg38 1p36.32(chr1:2999618-3203165)x3	ACTRT2, LOC124903827 +8 more	Copy number gain	See cases	GUncertain significance
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 2454433	NM_080431.5(ACTRT2):c.16G>A (p.Ala6Thr)	ACTRT2 (A6T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248210	NM_080431.5(ACTRT2):c.29C>G (p.Pro10Arg)	ACTRT2 (P10R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320807	NM_080431.5(ACTRT2):c.44A>G (p.Asp15Gly)	ACTRT2 (D15G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327113	NM_080431.5(ACTRT2):c.139C>T (p.Pro47Ser)	ACTRT2 (P47S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248797	NM_080431.5(ACTRT2):c.226G>A (p.Glu76Lys)	ACTRT2 (E76K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142795	NM_080431.5(ACTRT2):c.247T>C (p.Trp83Arg)	ACTRT2 (W83R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226800	NM_080431.5(ACTRT2):c.359G>A (p.Arg120His)	ACTRT2 (R120H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142798	NM_080431.5(ACTRT2):c.391T>A (p.Phe131Ile)	ACTRT2 (F131I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342250	NM_080431.5(ACTRT2):c.397G>A (p.Val133Met)	ACTRT2 (V133M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282440	NM_080431.5(ACTRT2):c.500T>A (p.Val167Asp)	ACTRT2 (V167D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264854	NM_080431.5(ACTRT2):c.532G>A (p.Ala178Thr)	ACTRT2 (A178T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142806	NM_080431.5(ACTRT2):c.550G>A (p.Val184Met)	ACTRT2 (V184M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142809	NM_080431.5(ACTRT2):c.560G>A (p.Arg187Lys)	ACTRT2 (R187K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025471	NM_080431.5(ACTRT2):c.600C>T (p.Ser200=)	ACTRT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2606344	NM_080431.5(ACTRT2):c.612C>A (p.Phe204Leu)	ACTRT2 (F204L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142819	NM_080431.5(ACTRT2):c.637G>T (p.Val213Leu)	ACTRT2 (V213L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142824	NM_080431.5(ACTRT2):c.671C>A (p.Ala224Asp)	ACTRT2 (A224D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374947	NM_080431.5(ACTRT2):c.682G>A (p.Glu228Lys)	ACTRT2 (E228K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264875	NM_080431.5(ACTRT2):c.704C>T (p.Pro235Leu)	ACTRT2 (P235L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264864	NM_080431.5(ACTRT2):c.764C>T (p.Pro255Leu)	ACTRT2 (P255L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219585	NM_080431.5(ACTRT2):c.776C>T (p.Ala259Val)	ACTRT2 (A259V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359863	NM_080431.5(ACTRT2):c.793G>A (p.Val265Met)	ACTRT2 (V265M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598457	NM_080431.5(ACTRT2):c.896T>C (p.Ile299Thr)	ACTRT2 (I299T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401727	NM_080431.5(ACTRT2):c.905C>T (p.Ser302Leu)	ACTRT2 (S302L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210949	NM_080431.5(ACTRT2):c.941G>A (p.Arg314Gln)	ACTRT2 (R314Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257440	NM_080431.5(ACTRT2):c.963G>T (p.Gln321His)	ACTRT2 (Q321H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142790	NM_080431.5(ACTRT2):c.1025G>T (p.Trp342Leu)	ACTRT2 (W342L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142791	NM_080431.5(ACTRT2):c.1026G>T (p.Trp342Cys)	ACTRT2 (W342C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352833	NM_080431.5(ACTRT2):c.1081G>A (p.Ala361Thr)	ACTRT2 (A361T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232345	NM_080431.5(ACTRT2):c.1114G>C (p.Val372Leu)	ACTRT2 (V372L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247906	NC_000001.10:g.(?_1470739)_(3768971_?)dup	ACTRT2, ARHGEF16 +38 more	Duplication	not provided	GUncertain significance
Select item 3247720	NC_000001.10:g.(?_1146935)_(3768971_?)del	ACAP3, ACTRT2 +60 more	Deletion	Shprintzen-Goldberg syndrome	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 2685266	GRCh37/hg19 1p36.33-36.32(chr1:849467-3500877)x1	SCNN1D, SDF4 +67 more	Copy number loss	not provided	GPathogenic

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