CFAP74[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	LOC129929074, LOC129929075 +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 58243	GRCh38/hg38 1p36.33-36.32(chr1:629044-3346226)x1	LOC129929179, LOC129929180 +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 152695	GRCh38/hg38 1p36.33-36.32(chr1:821713-2976123)x1	ACAP3, AGRN +254 more	Copy number loss	See cases	GPathogenic
Select item 152675	GRCh38/hg38 1p36.33-36.32(chr1:821713-2636393)x1	LOC129929104, LOC129929105 +249 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 151110	GRCh38/hg38 1p36.33-36.32(chr1:821713-2554047)x1	ACAP3, AGRN +243 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 148829	GRCh38/hg38 1p36.33-36.32(chr1:821713-2463016)x4	ACAP3, AGRN +238 more	Copy number gain	See cases	GUncertain significance
Select item 148825	GRCh38/hg38 1p36.33-36.32(chr1:821713-2463016)x1	ACAP3, AGRN +238 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 160923	GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1	ACAP3, AGRN +244 more	Copy number loss	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 58292	GRCh38/hg38 1p36.33(chr1:844347-2131805)x1	ACAP3, AGRN +205 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 57201	GRCh38/hg38 1p36.33-36.32(chr1:844347-3006252)x1	LOC129929161, LOC129929162 +252 more	Copy number loss	See cases	GPathogenic
Select item 57120	GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1	LOC129929114, LOC129929115 +244 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 144576	GRCh38/hg38 1p36.33-36.32(chr1:844353-2420916)x1	ACAP3, AGRN +234 more	Copy number loss	See cases	GPathogenic
Select item 58293	GRCh38/hg38 1p36.33-36.32(chr1:845437-2523513)x1	ACAP3, AGRN +237 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 58316	GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x1	ACAP3, AGRN +246 more	Copy number loss	See cases	GPathogenic
Select item 58315	GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x3	ACAP3, AGRN +246 more	Copy number gain	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 58312	GRCh38/hg38 1p36.33(chr1:872305-2047715)x1	ACAP3, AGRN +198 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 154687	GRCh38/hg38 1p36.33-36.32(chr1:911300-2963389)x1	ACAP3, AGRN +247 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 152331	GRCh38/hg38 1p36.33-36.32(chr1:914086-2465738)x1	LOC129929169, LOC129929170 +231 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 149947	GRCh38/hg38 1p36.33-36.32(chr1:1072906-2806838)x1	ACAP3, ANKRD65 +209 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 154682	GRCh38/hg38 1p36.33-36.32(chr1:1515661-2349832)x3	ATAD3A, CALML6 +84 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 2638065	NM_001304360.2(CFAP74):c.4809G>A (p.Ala1603=)	CFAP74	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638066	NM_001304360.2(CFAP74):c.4473C>T (p.Pro1491=)	CFAP74	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2443735	NM_001304360.2(CFAP74):c.4380_4381dup (p.Phe1461fs)	CFAP74 (F1461fs)	Microsatellite (frameshift variant)	Ciliary dyskinesia, primary, 49, without situs inversus	GLikely pathogenic
Select item 2443734	NM_001304360.2(CFAP74):c.4331G>C (p.Ser1444Thr)	CFAP74	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 49, without situs inversus	GPathogenic
Select item 2638067	NM_001304360.2(CFAP74):c.4051G>A (p.Val1351Ile)	CFAP74 (V1351I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443732	NM_001304360.2(CFAP74):c.3532G>A (p.Asp1178Asn)	CFAP74	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 49, without situs inversus	GPathogenic
Select item 2638068	NM_001304360.2(CFAP74):c.3296T>G (p.Leu1099Arg)	CFAP74 (L1099R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2582617	NM_001304360.2(CFAP74):c.2303T>G (p.Val768Gly)	CFAP74 (V768G)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 49, without situs inversus	GUncertain significance
Select item 2609852	NM_001304360.2(CFAP74):c.2176+34C>T	CFAP74	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2406090	NM_001304360.2(CFAP74):c.2176+30T>G	CFAP74	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2300013	NM_001304360.2(CFAP74):c.2111C>A (p.Ala704Glu)	CFAP74 (A704E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605650	NM_001304360.2(CFAP74):c.2090A>C (p.Glu697Ala)	CFAP74 (E697A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346851	NM_001304360.2(CFAP74):c.1907C>T (p.Thr636Met)	CFAP74 (T636M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590099	NM_001304360.2(CFAP74):c.1885A>G (p.Ser629Gly)	CFAP74 (S629G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288404	NM_001304360.2(CFAP74):c.1867G>A (p.Glu623Lys)	CFAP74 (E623K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057108	NM_001304360.2(CFAP74):c.1851G>A (p.Ser617=)	CFAP74	Single nucleotide variant (synonymous variant)	CFAP74-related disorder	GLikely benign
Select item 2488830	NM_001304360.2(CFAP74):c.1830A>C (p.Lys610Asn)	CFAP74 (K610N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363341	NM_001304360.2(CFAP74):c.1810G>A (p.Glu604Lys)	CFAP74 (E604K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618953	NM_001304360.2(CFAP74):c.1779A>C (p.Glu593Asp)	CFAP74 (E593D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488104	NM_001304360.2(CFAP74):c.1729T>C (p.Ser577Pro)	CFAP74 (S577P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346560	NM_001304360.2(CFAP74):c.1723G>A (p.Gly575Arg)	CFAP74 (G575R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443737	NM_001304360.2(CFAP74):c.1706dup (p.Gly570fs)	CFAP74 (G570fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2204146	NM_001304360.2(CFAP74):c.1697T>C (p.Phe566Ser)	CFAP74 (F566S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305690	NM_001304360.2(CFAP74):c.1651C>G (p.Leu551Val)	CFAP74 (L551V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619168	NM_001304360.2(CFAP74):c.1627A>G (p.Thr543Ala)	CFAP74 (T543A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230458	NM_001304360.2(CFAP74):c.1611C>G (p.Ile537Met)	CFAP74 (I537M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617470	NM_001304360.2(CFAP74):c.1594G>A (p.Val532Met)	CFAP74 (V532M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375264	NM_001304360.2(CFAP74):c.1556C>T (p.Pro519Leu)	CFAP74 (P519L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143668	NM_001304360.2(CFAP74):c.1538G>A (p.Arg513His)	CFAP74 (R513H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292160	NM_001304360.2(CFAP74):c.1537C>T (p.Arg513Cys)	CFAP74 (R513C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2340284	NM_001304360.2(CFAP74):c.1508A>T (p.Gln503Leu)	CFAP74 (Q503L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352484	NM_001304360.2(CFAP74):c.1487G>T (p.Arg496Leu)	CFAP74 (R496L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220126	NM_001304360.2(CFAP74):c.1436G>A (p.Gly479Asp)	CFAP74 (G479D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143667	NM_001304360.2(CFAP74):c.1370G>A (p.Gly457Glu)	CFAP74 (G457E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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