CCDC27[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 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 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 59852	GRCh38/hg38 1p36.32-36.23(chr1:3472163-7842947)x1	ACOT7, AJAP1 +193 more	Copy number loss	See cases	GPathogenic
Select item 148732	GRCh38/hg38 1p36.32(chr1:3695587-4084682)x3	C1orf174, CCDC27 +28 more	Copy number gain	See cases	GUncertain significance
Select item 144175	GRCh38/hg38 1p36.32(chr1:3712088-4027367)x4	C1orf174, CCDC27 +27 more	Copy number gain	See cases	GPathogenic
Select item 2615170	NM_152492.3(CCDC27):c.64C>T (p.Pro22Ser)	CCDC27 (P22S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2528099	NM_152492.3(CCDC27):c.219G>A (p.Met73Ile)	CCDC27 (M73I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 788937	NM_152492.3(CCDC27):c.311G>A (p.Arg104Lys)	CCDC27 (R104K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2569138	NM_152492.3(CCDC27):c.389C>T (p.Thr130Met)	CCDC27 (T130M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526149	NM_152492.3(CCDC27):c.401G>A (p.Cys134Tyr)	CCDC27 (C134Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486824	NM_152492.3(CCDC27):c.476T>C (p.Ile159Thr)	CCDC27 (I159T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236577	NM_152492.3(CCDC27):c.547G>C (p.Val183Leu)	CCDC27 (V183L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2347714	NM_152492.3(CCDC27):c.602G>A (p.Arg201Gln)	CCDC27 (R201Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241465	NM_152492.3(CCDC27):c.632C>T (p.Pro211Leu)	CCDC27 (P211L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373363	NM_152492.3(CCDC27):c.634G>T (p.Val212Phe)	CCDC27 (V212F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276133	NM_152492.3(CCDC27):c.675G>C (p.Lys225Asn)	CCDC27 (K225N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295719	NM_152492.3(CCDC27):c.680T>C (p.Met227Thr)	CCDC27 (M227T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2229171	NM_152492.3(CCDC27):c.681G>A (p.Met227Ile)	CCDC27 (M227I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315108	NM_152492.3(CCDC27):c.757G>A (p.Glu253Lys)	CCDC27 (E253K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618538	NM_152492.3(CCDC27):c.787G>A (p.Glu263Lys)	CCDC27 (E263K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345653	NM_152492.3(CCDC27):c.877G>A (p.Ala293Thr)	CCDC27 (A293T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537911	NM_152492.3(CCDC27):c.918C>A (p.Phe306Leu)	CCDC27 (F306L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2638105	NM_152492.3(CCDC27):c.930G>A (p.Glu310=)	CCDC27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2383483	NM_152492.3(CCDC27):c.941A>T (p.Gln314Leu)	CCDC27 (Q314L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306191	NM_152492.3(CCDC27):c.951G>T (p.Trp317Cys)	CCDC27 (W317C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374544	NM_152492.3(CCDC27):c.971C>T (p.Ala324Val)	CCDC27 (A324V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507485	NM_152492.3(CCDC27):c.977C>T (p.Pro326Leu)	CCDC27 (P326L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529547	NM_152492.3(CCDC27):c.1033G>A (p.Gly345Arg)	CCDC27 (G345R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311886	NM_152492.3(CCDC27):c.1051G>C (p.Glu351Gln)	CCDC27 (E351Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206515	NM_152492.3(CCDC27):c.1093G>A (p.Val365Met)	CCDC27 (V365M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316555	NM_152492.3(CCDC27):c.1121A>G (p.Glu374Gly)	CCDC27 (E374G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597632	NM_152492.3(CCDC27):c.1131A>C (p.Glu377Asp)	CCDC27 (E377D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231980	NM_152492.3(CCDC27):c.1142A>C (p.Asp381Ala)	CCDC27 (D381A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2638106	NM_152492.3(CCDC27):c.1170G>A (p.Pro390=)	CCDC27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2277348	NM_152492.3(CCDC27):c.1198G>T (p.Ala400Ser)	CCDC27 (A400S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2609392	NM_152492.3(CCDC27):c.1201T>C (p.Ser401Pro)	CCDC27 (S401P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243007	NM_152492.3(CCDC27):c.1217C>G (p.Ser406Trp)	CCDC27 (S406W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282887	NM_152492.3(CCDC27):c.1220T>G (p.Phe407Cys)	CCDC27 (F407C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623688	NM_152492.3(CCDC27):c.1487A>T (p.Glu496Val)	CCDC27 (E496V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514612	NM_152492.3(CCDC27):c.1526G>A (p.Arg509Gln)	CCDC27 (R509Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485162	NM_152492.3(CCDC27):c.1676G>A (p.Ser559Asn)	CCDC27 (S559N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311502	NM_152492.3(CCDC27):c.1714C>T (p.Arg572Cys)	CCDC27 (R572C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2638107	NM_152492.3(CCDC27):c.1746C>T (p.Leu582=)	CCDC27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2221782	NM_152492.3(CCDC27):c.1813G>A (p.Glu605Lys)	CCDC27 (E605K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247270	NM_152492.3(CCDC27):c.1910C>G (p.Pro637Arg)	CCDC27 (P637R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609739	NM_152492.3(CCDC27):c.1927G>C (p.Glu643Gln)	CCDC27 (E643Q)	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 3062678	GRCh37/hg19 1p36.32(chr1:3575832-4224558)x3	C1orf174, CCDC27 +5 more	Copy number gain	not specified	GUncertain significance
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

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