CCDC171[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	LOC130001767, LOC130001768 +1006 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	CDKN2B, CDKN2B-AS1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	LOC130001680, LOC130001681 +1062 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC124210611, LOC124210612 +1120 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	LOC130001484, LOC130001485 +883 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153184	GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4	LOC130001517, LOC130001518 +484 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150819	GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3	ACER2, ADAMTSL1 +458 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001585, LOC130001586 +984 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	LOC130001507, LOC130001508 +899 more	Copy number gain	See cases	GPathogenic
Select item 150116	GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3	ACER2, ACO1 +582 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	LOC130001746, LOC130001747 +980 more	Copy number gain	See cases	GPathogenic
Select item 146394	GRCh38/hg38 9p24.3-22.1(chr9:204104-18882281)x1	SNORD137, SPATA6L +303 more	Copy number loss	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +899 more	Copy number gain	See cases	GPathogenic
Select item 146719	GRCh38/hg38 9p24.3-22.2(chr9:204193-16897580)x1	SMARCA2, SNAPC3 +290 more	Copy number loss	See cases	GPathogenic
Select item 144343	GRCh38/hg38 9p24.3-22.2(chr9:204193-18073359)x1	LOC130001522, LOC130001523 +297 more	Copy number loss	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59839	GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3	ACER2, ACO1 +539 more	Copy number gain	See cases	GPathogenic
Select item 59836	GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3	LOC130001520, LOC130001521 +410 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	SPATA31F3, SPATA31G1 +898 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ANKRD18B, APTX +899 more	Copy number gain	See cases	GPathogenic
Select item 147703	GRCh38/hg38 9p24.3-22.3(chr9:214367-16307944)x1	LOC130001455, LOC130001456 +280 more	Copy number loss	See cases	GPathogenic
Select item 146356	GRCh38/hg38 9p24.3-22.1(chr9:220253-18708805)x1	LOC105375972, LOC105375976 +295 more	Copy number loss	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +894 more	Copy number gain	See cases	GPathogenic
Select item 59064	GRCh38/hg38 9p24.3-22.2(chr9:220253-18073359)x1	ADAMTSL1, AK3 +292 more	Copy number loss	See cases	GPathogenic
Select item 144555	GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3	SLC1A1, SLC24A2 +461 more	Copy number gain	See cases	GPathogenic
Select item 152943	GRCh38/hg38 9p24.3-22.3(chr9:322690-16401656)x1	AK3, BRD10 +273 more	Copy number loss	See cases	GPathogenic
Select item 149484	GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3	CDKN2B, CDKN2B-AS1 +412 more	Copy number gain	See cases	GPathogenic
Select item 147501	GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3	LOC126860594, LOC126860595 +355 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ACER2, ACO1 +586 more	Copy number gain	See cases	GPathogenic
Select item 59878	GRCh38/hg38 9p23-21.1(chr9:9543538-30266463)x3	ACER2, ADAMTSL1 +243 more	Copy number gain	See cases	GPathogenic
Select item 57009	GRCh38/hg38 9p23-22.2(chr9:9661633-18034356)x1	ADAMTSL1, BNC2 +67 more	Copy number loss	See cases	GPathogenic
Select item 57336	GRCh38/hg38 9p23-22.2(chr9:11086096-17636671)x1	BNC2, BNC2-AS1 +59 more	Copy number loss	See cases	GPathogenic
Select item 59101	GRCh38/hg38 9p23-22.2(chr9:11818291-17963882)x1	ADAMTSL1, BNC2 +61 more	Copy number loss	See cases	GPathogenic
Select item 3138834	NM_173550.4(CCDC171):c.19A>G (p.Ser7Gly)	CCDC171 (S7G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2482364	NM_173550.4(CCDC171):c.56C>T (p.Ser19Leu)	CCDC171 (S19L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3264072	NM_173550.4(CCDC171):c.67A>G (p.Lys23Glu)	CCDC171 (K23E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2570353	NM_173550.4(CCDC171):c.175G>A (p.Glu59Lys)	CCDC171 (E59K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2337867	NM_173550.4(CCDC171):c.181G>T (p.Ala61Ser)	CCDC171 (A61S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3264087	NM_173550.4(CCDC171):c.184A>G (p.Ser62Gly)	CCDC171 (S62G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2611927	NM_173550.4(CCDC171):c.188A>T (p.Tyr63Phe)	CCDC171 (Y63F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2659091	NM_173550.4(CCDC171):c.194G>A (p.Ser65Asn)	CCDC171 (S65N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2461921	NM_173550.4(CCDC171):c.218A>T (p.Glu73Val)	CCDC171 (E73V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 790064	NM_173550.4(CCDC171):c.221T>C (p.Val74Ala)	CCDC171 (V74A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2509142	NM_173550.4(CCDC171):c.227A>T (p.Lys76Met)	CCDC171 (K76M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2614667	NM_173550.4(CCDC171):c.260A>T (p.Asp87Val)	CCDC171 (D87V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3264071	NM_173550.4(CCDC171):c.287G>C (p.Gly96Ala)	CCDC171 (G96A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2596876	NM_173550.4(CCDC171):c.292G>A (p.Gly98Arg)	CCDC171 (G98R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3138845	NM_173550.4(CCDC171):c.298C>T (p.Arg100Trp)	CCDC171 (R100W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2492290	NM_173550.4(CCDC171):c.437G>A (p.Arg146Lys)	CCDC171 (R146K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305377	NM_173550.4(CCDC171):c.445G>C (p.Glu149Gln)	CCDC171 (E56Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507610	NM_173550.4(CCDC171):c.454T>G (p.Leu152Val)	CCDC171 (L152V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619282	NM_173550.4(CCDC171):c.467A>G (p.Asp156Gly)	CCDC171 (D63G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659092	NM_173550.4(CCDC171):c.495A>G (p.Glu165=)	CCDC171	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2347631	NM_173550.4(CCDC171):c.556A>G (p.Lys186Glu)	CCDC171 (K93E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138857	NM_173550.4(CCDC171):c.596G>A (p.Arg199Lys)	CCDC171 (R199K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138858	NM_173550.4(CCDC171):c.625C>G (p.Gln209Glu)	CCDC171 (Q116E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264083	NM_173550.4(CCDC171):c.636A>C (p.Gln212His)	CCDC171 (Q119H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623905	NM_173550.4(CCDC171):c.679C>A (p.Gln227Lys)	CCDC171 (Q227K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233151	NM_173550.4(CCDC171):c.709A>G (p.Lys237Glu)	CCDC171 (K144E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294396	NM_173550.4(CCDC171):c.718A>C (p.Lys240Gln)	CCDC171 (K240Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138859	NM_173550.4(CCDC171):c.749A>T (p.Asp250Val)	CCDC171 (D157V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138824	NM_173550.4(CCDC171):c.1109A>C (p.Lys370Thr)	CCDC171 (K277T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382092	NM_173550.4(CCDC171):c.1126G>A (p.Glu376Lys)	CCDC171 (E376K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311885	NM_173550.4(CCDC171):c.1137G>T (p.Lys379Asn)	CCDC171 (K286N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138825	NM_173550.4(CCDC171):c.1141G>A (p.Val381Ile)	CCDC171 (V288I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138826	NM_173550.4(CCDC171):c.1171T>C (p.Tyr391His)	CCDC171 (Y298H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360687	NM_173550.4(CCDC171):c.1172A>G (p.Tyr391Cys)	CCDC171 (Y298C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621417	NM_173550.4(CCDC171):c.1216G>T (p.Ala406Ser)	CCDC171 (A313S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393031	NM_173550.4(CCDC171):c.1228C>G (p.Gln410Glu)	CCDC171 (Q317E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560102	NM_173550.4(CCDC171):c.1264A>G (p.Lys422Glu)	CCDC171 (K329E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512062	NM_173550.4(CCDC171):c.1330G>C (p.Asp444His)	CCDC171 (D351H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600486	NM_173550.4(CCDC171):c.1349G>C (p.Ser450Thr)	CCDC171 (S357T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138828	NM_173550.4(CCDC171):c.1379G>A (p.Arg460His)	CCDC171 (R367H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138829	NM_173550.4(CCDC171):c.1403A>T (p.Lys468Met)	CCDC171 (K375M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776412	NM_173550.4(CCDC171):c.1429A>C (p.Lys477Gln)	CCDC171 (K485Q +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2596875	NM_173550.4(CCDC171):c.1453A>C (p.Thr485Pro)	CCDC171 (T400P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289340	NM_173550.4(CCDC171):c.1494A>T (p.Glu498Asp)	CCDC171 (E413D +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2337578	NM_173550.4(CCDC171):c.1579T>A (p.Leu527Ile)	CCDC171 (L442I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383966	NM_173550.4(CCDC171):c.1600G>A (p.Val534Met)	CCDC171 (V534M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264078	NM_173550.4(CCDC171):c.1607A>G (p.His536Arg)	CCDC171 (H544R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138830	NM_173550.4(CCDC171):c.1643C>G (p.Ser548Cys)	CCDC171 (S556C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264076	NM_173550.4(CCDC171):c.1651G>A (p.Glu551Lys)	CCDC171 (E466K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234721	NM_173550.4(CCDC171):c.1663C>T (p.Leu555Phe)	CCDC171 (L563F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569048	NM_173550.4(CCDC171):c.1742G>T (p.Cys581Phe)	CCDC171 (C496F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138831	NM_173550.4(CCDC171):c.1799G>A (p.Cys600Tyr)	CCDC171 (C600Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138832	NM_173550.4(CCDC171):c.1837G>C (p.Asp613His)	CCDC171 (D528H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260376	NM_173550.4(CCDC171):c.1844A>G (p.Asn615Ser)	CCDC171 (N530S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299981	NM_173550.4(CCDC171):c.1852A>G (p.Asn618Asp)	CCDC171 (N533D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599885	NM_173550.4(CCDC171):c.1869T>A (p.His623Gln)	CCDC171 (H631Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294395	NM_173550.4(CCDC171):c.1873G>C (p.Glu625Gln)	CCDC171 (E540Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264073	NM_173550.4(CCDC171):c.1909G>A (p.Glu637Lys)	CCDC171 (E552K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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