CFAP58[gene] - ClinVar

Search results

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 3572	NC_000010.11:g.(102444036_?)_(?_104726221)del	ACTR1A, ARL3 +135 more	Deletion	Desmoplastic/nodular medulloblastoma	GPathogenic
Select item 155304	GRCh38/hg38 10q24.32-25.3(chr10:102732173-114085105)x1	LOC124416905, LOC124416906 +318 more	Copy number loss	See cases	GPathogenic
Select item 149250	GRCh38/hg38 10q25.1(chr10:104077161-108350985)x3	CFAP43, CFAP58 +51 more	Copy number gain	See cases	GUncertain significance
Select item 3143590	NM_001008723.2(CFAP58):c.88C>A (p.Leu30Ile)	CFAP58 (L30I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588868	NM_001008723.2(CFAP58):c.164A>G (p.Asp55Gly)	CFAP58 (D37G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570082	NM_001008723.2(CFAP58):c.221A>G (p.Asn74Ser)	CFAP58 (N56S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143582	NM_001008723.2(CFAP58):c.227C>T (p.Ala76Val)	CFAP58 (A76V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270298	NM_001008723.2(CFAP58):c.235G>A (p.Ala79Thr)	CFAP58 (A79T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266490	NM_001008723.2(CFAP58):c.310A>G (p.Lys104Glu)	CFAP58 (K86E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266487	NM_001008723.2(CFAP58):c.356C>A (p.Thr119Lys)	CFAP58 (T101K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266485	NM_001008723.2(CFAP58):c.356C>T (p.Thr119Met)	CFAP58 (T101M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143587	NM_001008723.2(CFAP58):c.441C>T (p.Asn147=)	CFAP58	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3143588	NM_001008723.2(CFAP58):c.476C>G (p.Thr159Arg)	CFAP58 (T141R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344769	NM_001008723.2(CFAP58):c.529G>C (p.Ala177Pro)	CFAP58 (A159P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266489	NM_001008723.2(CFAP58):c.638G>A (p.Arg213Gln)	CFAP58 (R213Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143589	NM_001008723.2(CFAP58):c.647G>A (p.Arg216Gln)	CFAP58 (R198Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455087	NM_001008723.2(CFAP58):c.706C>A (p.Gln236Lys)	CFAP58 (Q218K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246183	NM_001008723.2(CFAP58):c.827A>G (p.Gln276Arg)	CFAP58 (Q276R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325238	NM_001008723.2(CFAP58):c.851T>G (p.Leu284Arg)	CFAP58 (L266R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615250	NM_001008723.2(CFAP58):c.931G>A (p.Ala311Thr)	CFAP58 (A293T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143591	NM_001008723.2(CFAP58):c.970G>A (p.Gly324Arg)	CFAP58 (G306R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621678	NM_001008723.2(CFAP58):c.974A>C (p.Lys325Thr)	CFAP58 (K307T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388474	NM_001008723.2(CFAP58):c.1135A>G (p.Met379Val)	CFAP58 (M379V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372381	NM_001008723.2(CFAP58):c.1187C>T (p.Ala396Val)	CFAP58 (A378V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143574	NM_001008723.2(CFAP58):c.1193A>G (p.Asn398Ser)	CFAP58 (N398S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2237795	NM_001008723.2(CFAP58):c.1195G>A (p.Ala399Thr)	CFAP58 (A381T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591083	NM_001008723.2(CFAP58):c.1196C>T (p.Ala399Val)	CFAP58 (A381V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2629218	NM_001008723.2(CFAP58):c.1237G>A (p.Ala413Thr)	CFAP58 (A395T +1 more)	Single nucleotide variant (missense variant)	CFAP58-related disorder	GUncertain significance
Select item 2640815	NM_001008723.2(CFAP58):c.1263C>A (p.Ile421=)	CFAP58	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2344293	NM_001008723.2(CFAP58):c.1325G>A (p.Arg442His)	CFAP58 (R424H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371807	NM_001008723.2(CFAP58):c.1328A>G (p.Asp443Gly)	CFAP58 (D425G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373840	NM_001008723.2(CFAP58):c.1331G>A (p.Arg444Gln)	CFAP58 (R444Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561469	NM_001008723.2(CFAP58):c.1358C>T (p.Thr453Met)	CFAP58 (T453M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2439022	NM_001008723.2(CFAP58):c.1360C>T (p.Gln454Ter)	CFAP58 (Q436* +1 more)	Single nucleotide variant (nonsense)	Spermatogenic failure 49	GLikely pathogenic
Select item 992190	NM_001008723.2(CFAP58):c.1429del (p.Lys476_Ile477insTer)	CFAP58	Deletion (nonsense)	Spermatogenic failure 49	GPathogenic
Select item 2213572	NM_001008723.2(CFAP58):c.1501T>C (p.Tyr501His)	CFAP58 (Y483H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220788	NM_001008723.2(CFAP58):c.1545G>A (p.Met515Ile)	CFAP58 (M515I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143575	NM_001008723.2(CFAP58):c.1564A>G (p.Met522Val)	CFAP58 (M504V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546810	NM_001008723.2(CFAP58):c.1565T>G (p.Met522Arg)	CFAP58 (M504R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351222	NM_001008723.2(CFAP58):c.1640A>T (p.Gln547Leu)	CFAP58 (Q529L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545742	NM_001008723.2(CFAP58):c.1642C>A (p.Gln548Lys)	CFAP58 (Q548K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 992192	NM_001008723.2(CFAP58):c.1696C>T (p.Gln566Ter)	CFAP58 (Q566*)	Single nucleotide variant (nonsense)	Spermatogenic failure 49	GPathogenic
Select item 3143577	NM_001008723.2(CFAP58):c.1774G>T (p.Ala592Ser)	CFAP58 (A592S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218372	NM_001008723.2(CFAP58):c.1780G>A (p.Gly594Arg)	CFAP58 (G576R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255371	NM_001008723.2(CFAP58):c.1894A>C (p.Lys632Gln)	CFAP58 (K614Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280822	NM_001008723.2(CFAP58):c.1905G>C (p.Gln635His)	CFAP58 (Q617H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266488	NM_001008723.2(CFAP58):c.1960A>C (p.Ile654Leu)	CFAP58 (I654L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143578	NM_001008723.2(CFAP58):c.1987C>T (p.Arg663Cys)	CFAP58 (R663C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406526	NM_001008723.2(CFAP58):c.1990C>T (p.Arg664Trp)	CFAP58 (R646W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143579	NM_001008723.2(CFAP58):c.2015G>A (p.Ser672Asn)	CFAP58 (S654N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2578622	NM_001008723.2(CFAP58):c.2039+3A>G	CFAP58	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 992191	NM_001008723.2(CFAP58):c.2052del (p.His685fs)	CFAP58 (H685fs)	Deletion (frameshift variant)	Spermatogenic failure 49	GPathogenic
Select item 3143580	NM_001008723.2(CFAP58):c.2051T>C (p.Phe684Ser)	CFAP58 (F666S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309307	NM_001008723.2(CFAP58):c.2057T>C (p.Met686Thr)	CFAP58 (M668T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143581	NM_001008723.2(CFAP58):c.2058G>T (p.Met686Ile)	CFAP58 (M668I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349959	NM_001008723.2(CFAP58):c.2072T>C (p.Leu691Ser)	CFAP58 (L673S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498470	NM_001008723.2(CFAP58):c.2086C>T (p.Arg696Cys)	CFAP58 (R678C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 992189	NM_001008723.2(CFAP58):c.2092C>T (p.Arg698Ter)	CFAP58 (R698*)	Single nucleotide variant (nonsense)	Spermatogenic failure 49	GPathogenic
Select item 3266491	NM_001008723.2(CFAP58):c.2180T>C (p.Ile727Thr)	CFAP58 (I727T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258066	NM_001008723.2(CFAP58):c.2206C>A (p.Arg736Ser)	CFAP58 (R718S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 992193	NM_001008723.2(CFAP58):c.2274C>A (p.Tyr758Ter)	CFAP58 (Y758*)	Single nucleotide variant (nonsense)	Spermatogenic failure 49	GPathogenic
Select item 2640816	NM_001008723.2(CFAP58):c.2300G>A (p.Arg767His)	CFAP58 (R749H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2321310	NM_001008723.2(CFAP58):c.2306C>A (p.Pro769His)	CFAP58 (P751H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364462	NM_001008723.2(CFAP58):c.2328G>C (p.Gln776His)	CFAP58 (Q758H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143584	NM_001008723.2(CFAP58):c.2342G>A (p.Arg781Gln)	CFAP58 (R763Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2634442	NM_001008723.2(CFAP58):c.2348C>T (p.Thr783Met)	CFAP58 (T765M +1 more)	Single nucleotide variant (missense variant)	CFAP58-related disorder	GUncertain significance
Select item 2590784	NM_001008723.2(CFAP58):c.2489A>G (p.Lys830Arg)	CFAP58 (K830R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143585	NM_001008723.2(CFAP58):c.2520C>G (p.Asp840Glu)	CFAP58 (D822E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302375	NM_001008723.2(CFAP58):c.2522C>G (p.Thr841Arg)	CFAP58 (T841R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3143586	NM_001008723.2(CFAP58):c.2525C>G (p.Ala842Gly)	CFAP58 (A842G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344057	NM_001008723.2(CFAP58):c.2535T>A (p.Asp845Glu)	CFAP58 (D845E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2640817	NM_001008723.2(CFAP58):c.2603C>A (p.Thr868Asn)	CFAP58 (T850N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527601	GRCh37/hg19 10q25.1(chr10:106147023-106318823)	CFAP58	Copy number loss	not specified	GUncertain significance
Select item 1527599	GRCh37/hg19 10q24.32-25.3(chr10:104030479-115410590)	C10orf95, CALHM1 +57 more	Copy number loss	not specified	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563801	GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3	ABLIM1, ABRAXAS2 +157 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443838	GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3	ABLIM1, ABRAXAS2 +151 more	Copy number gain	See cases	GPathogenic
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic

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Items: 89