79846[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 155204	GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1	LOC129998788, LOC129998789 +227 more	Copy number loss	See cases	GPathogenic
Select item 151098	GRCh38/hg38 7q21.12-21.2(chr7:87379476-91731873)x1	ABCB1, ABCB4 +78 more	Copy number loss	See cases	GLikely pathogenic
Select item 155088	GRCh38/hg38 7q21.13(chr7:88517003-90255387)x3	CFAP69, LOC105375387 +13 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 155067	GRCh38/hg38 7q21.13(chr7:88517003-90256109)x3	CFAP69, LOC105375387 +13 more	Copy number gain	See cases	GUncertain significance
Select item 148934	GRCh38/hg38 7q21.13(chr7:88520043-90261496)x3	CFAP69, LOC105375387 +13 more	Copy number gain	See cases	GLikely benign
Select item 148558	GRCh38/hg38 7q21.13(chr7:88520043-90253333)x3	CFAP69, LOC105375387 +13 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 59624	GRCh38/hg38 7q21.13(chr7:88521030-90256023)x3	CFAP69, LOC105375387 +13 more	Copy number gain	See cases	GUncertain significance
Select item 155134	GRCh38/hg38 7q21.13(chr7:88724612-90261496)x3	CFAP69, LOC105375387 +11 more	Copy number gain	See cases	GUncertain significance
Select item 148222	GRCh38/hg38 7q21.13(chr7:88724612-90253333)x3	CFAP69, LOC105375387 +11 more	Copy number gain	See cases	GLikely benign
Select item 151201	GRCh38/hg38 7q21.13(chr7:89467226-90255387)x3	CFAP69, LOC105375387 +9 more	Copy number gain	See cases	GUncertain significance
Select item 148157	GRCh38/hg38 7q21.13(chr7:89880753-90888838)x3	CDK14, CFAP69 +30 more	Copy number gain	See cases	GUncertain significance
Select item 153765	GRCh38/hg38 7q21.13(chr7:89886335-90747262)x3	CDK14, CFAP69 +28 more	Copy number gain	See cases	GUncertain significance
Select item 1338847	GRCh38/hg38 7q21.13(chr7:89998146-90352986)	GTPBP10, LOC101927446 +11 more	Copy number gain	Diaphragmatic hernia	GUncertain significance
Select item 3058348	NM_001039706.3(CFAP69):c.-7A>C	CFAP69	Single nucleotide variant (5 prime UTR variant)	CFAP69-related disorder	GLikely benign
Select item 2521833	NM_001039706.3(CFAP69):c.6G>C (p.Trp2Cys)	CFAP69 (W2C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709809	NM_001039706.3(CFAP69):c.24G>T (p.Ala8=)	CFAP69	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768178	NM_001039706.3(CFAP69):c.36C>T (p.Ala12=)	CFAP69	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3357350	NM_001039706.3(CFAP69):c.49A>G (p.Ile17Val)	CFAP69 (I17V)	Single nucleotide variant (missense variant)	CFAP69-related disorder	GLikely benign
Select item 3143639	NM_001039706.3(CFAP69):c.73A>C (p.Ser25Arg)	CFAP69 (S25R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3044692	NM_001039706.3(CFAP69):c.136A>G (p.Met46Val)	CFAP69 (M46V)	Single nucleotide variant (missense variant)	CFAP69-related disorder	GLikely benign
Select item 3143625	NM_001039706.3(CFAP69):c.166G>A (p.Glu56Lys)	CFAP69 (E56K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321566	NM_001039706.3(CFAP69):c.202C>G (p.Leu68Val)	CFAP69 (L68V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262908	NM_001039706.3(CFAP69):c.211G>C (p.Val71Leu)	CFAP69 (V71L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336523	NM_001039706.3(CFAP69):c.228G>C (p.Gln76His)	CFAP69 (Q76H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283741	NM_001039706.3(CFAP69):c.244C>T (p.Leu82Phe)	CFAP69 (L82F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2278414	NM_001039706.3(CFAP69):c.316C>A (p.Arg106Ser)	CFAP69 (R106S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712004	NM_001039706.3(CFAP69):c.317G>A (p.Arg106His)	CFAP69 (R106H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3256949	NM_001039706.3(CFAP69):c.340_341del (p.Ile114fs)	CFAP69 (I114fs)	Microsatellite (frameshift variant)	Susceptibility to severe COVID-19	GLikely pathogenic
Select item 3143636	NM_001039706.3(CFAP69):c.338A>G (p.Asp113Gly)	CFAP69 (D113G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709810	NM_001039706.3(CFAP69):c.546G>A (p.Ala182=)	CFAP69	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2332296	NM_001039706.3(CFAP69):c.556T>C (p.Tyr186His)	CFAP69 (Y168H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259092	NM_001039706.3(CFAP69):c.594A>T (p.Lys198Asn)	CFAP69 (K180N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518522	NM_001039706.3(CFAP69):c.599T>C (p.Met200Thr)	CFAP69 (M182T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 626909	NM_001039706.3(CFAP69):c.647G>A (p.Trp216Ter)	CFAP69 (W216* +1 more)	Single nucleotide variant (nonsense)	Spermatogenic failure 24	GPathogenic
Select item 3143637	NM_001039706.3(CFAP69):c.649G>A (p.Val217Ile)	CFAP69 (V217I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1192634	NM_001039706.3(CFAP69):c.682+50A>C	CFAP69	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3143638	NM_001039706.3(CFAP69):c.698T>C (p.Ile233Thr)	CFAP69 (I233T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404964	NM_001039706.3(CFAP69):c.709G>C (p.Ala237Pro)	CFAP69 (A219P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 523227	NM_001039706.3(CFAP69):c.763C>T (p.Gln255Ter)	CFAP69 (Q255* +1 more)	Single nucleotide variant (nonsense)	Spermatogenic failure 24	GPathogenic
Select item 523226	NM_001039706.3(CFAP69):c.860+1G>A	CFAP69	Single nucleotide variant (splice donor variant)	Spermatogenic failure 24	GPathogenic
Select item 768179	NM_001039706.3(CFAP69):c.916C>T (p.Arg306Cys)	CFAP69 (R288C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2346556	NM_001039706.3(CFAP69):c.917G>A (p.Arg306His)	CFAP69 (R288H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248123	NM_001039706.3(CFAP69):c.1058A>G (p.Lys353Arg)	CFAP69 (K335R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 626908	NM_001039706.3(CFAP69):c.1069_1070insAC (p.Leu357fs)	CFAP69 (L357fs +1 more)	Insertion (frameshift variant)	Spermatogenic failure 24	GPathogenic
Select item 3143622	NM_001039706.3(CFAP69):c.1082A>G (p.Tyr361Cys)	CFAP69 (Y343C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 740372	NM_001039706.3(CFAP69):c.1107A>G (p.Leu369=)	CFAP69	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3060732	NM_001039706.3(CFAP69):c.1116C>T (p.Asn372=)	CFAP69	Single nucleotide variant (synonymous variant)	CFAP69-related disorder	GBenign
Select item 3143623	NM_001039706.3(CFAP69):c.1117G>A (p.Val373Ile)	CFAP69 (V355I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2306985	NM_001039706.3(CFAP69):c.1139A>G (p.Asp380Gly)	CFAP69 (D362G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238842	NM_001039706.3(CFAP69):c.1304T>C (p.Ile435Thr)	CFAP69 (I417T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776236	NM_001039706.3(CFAP69):c.1376C>T (p.Pro459Leu)	CFAP69 (P441L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2301827	NM_001039706.3(CFAP69):c.1418G>A (p.Arg473Gln)	CFAP69 (R455Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395361	NM_001039706.3(CFAP69):c.1441C>T (p.Arg481Cys)	CFAP69 (R463C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143624	NM_001039706.3(CFAP69):c.1442G>A (p.Arg481His)	CFAP69 (R463H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1192635	NM_001039706.3(CFAP69):c.1468G>A (p.Val490Met)	CFAP69 (V472M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2332990	NM_001039706.3(CFAP69):c.1535T>C (p.Ile512Thr)	CFAP69 (I494T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266512	NM_001039706.3(CFAP69):c.1574A>G (p.Lys525Arg)	CFAP69 (K507R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470431	NM_001039706.3(CFAP69):c.1592T>C (p.Leu531Ser)	CFAP69 (L531S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292479	NM_001039706.3(CFAP69):c.1615C>T (p.Leu539Phe)	CFAP69 (L539F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049257	NM_001039706.3(CFAP69):c.1623A>G (p.Leu541=)	CFAP69	Single nucleotide variant (synonymous variant)	CFAP69-related disorder	GLikely benign
Select item 712005	NM_001039706.3(CFAP69):c.1686C>T (p.Ile562=)	CFAP69	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2382094	NM_001039706.3(CFAP69):c.1690C>T (p.Leu564Phe)	CFAP69 (L546F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297513	NM_001039706.3(CFAP69):c.1783A>G (p.Ile595Val)	CFAP69 (I595V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266515	NM_001039706.3(CFAP69):c.1793G>A (p.Cys598Tyr)	CFAP69 (C580Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489082	NM_001039706.3(CFAP69):c.1820A>G (p.Glu607Gly)	CFAP69 (E607G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489083	NM_001039706.3(CFAP69):c.1821A>T (p.Glu607Asp)	CFAP69 (E589D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1192636	NM_001039706.3(CFAP69):c.1857+47T>A	CFAP69	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3143626	NM_001039706.3(CFAP69):c.1888C>G (p.Leu630Val)	CFAP69 (L630V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143628	NM_001039706.3(CFAP69):c.1949A>G (p.Gln650Arg)	CFAP69 (Q632R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3266514	NM_001039706.3(CFAP69):c.1991T>C (p.Leu664Ser)	CFAP69 (L646S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213436	NM_001039706.3(CFAP69):c.2008A>G (p.Lys670Glu)	CFAP69 (K670E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384609	NM_001039706.3(CFAP69):c.2026C>T (p.Arg676Cys)	CFAP69 (R676C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266513	NM_001039706.3(CFAP69):c.2035A>C (p.Asn679His)	CFAP69 (N661H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3143629	NM_001039706.3(CFAP69):c.2139T>A (p.Asp713Glu)	CFAP69 (D695E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484559	NM_001039706.3(CFAP69):c.2174T>C (p.Ile725Thr)	CFAP69 (I707T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530200	NM_001039706.3(CFAP69):c.2180G>A (p.Gly727Asp)	CFAP69 (G709D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515686	NM_001039706.3(CFAP69):c.2183A>G (p.Lys728Arg)	CFAP69 (K710R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499048	NM_001039706.3(CFAP69):c.2191T>C (p.Phe731Leu)	CFAP69 (F713L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2623286	NM_001039706.3(CFAP69):c.2314T>A (p.Leu772Ile)	CFAP69 (L754I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143631	NM_001039706.3(CFAP69):c.2398C>A (p.Gln800Lys)	CFAP69 (Q782K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280706	NM_001039706.3(CFAP69):c.2422G>A (p.Ala808Thr)	CFAP69 (A808T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481024	NM_001039706.3(CFAP69):c.2431G>A (p.Asp811Asn)	CFAP69 (D793N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3355023	NM_001039706.3(CFAP69):c.2474C>T (p.Thr825Met)	CFAP69 (T759M +2 more)	Single nucleotide variant (missense variant)	CFAP69-related disorder	GLikely benign
Select item 2250915	NM_001039706.3(CFAP69):c.2528C>A (p.Thr843Lys)	CFAP69 (T825K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209468	NM_001039706.3(CFAP69):c.2536G>A (p.Ala846Thr)	CFAP69 (A846T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1192637	NM_001039706.3(CFAP69):c.2562C>G (p.Ser854Arg)	CFAP69 (S788R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3143632	NM_001039706.3(CFAP69):c.2579T>C (p.Ile860Thr)	CFAP69 (I860T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226077	NM_001039706.3(CFAP69):c.2617A>G (p.Ile873Val)	CFAP69 (I873V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 760606	NM_001039706.3(CFAP69):c.2627A>G (p.Gln876Arg)	CFAP69 (Q858R +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1192638	NM_001039706.3(CFAP69):c.2654C>T (p.Thr885Met)	CFAP69 (T819M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2544271	NM_001039706.3(CFAP69):c.2677A>G (p.Thr893Ala)	CFAP69 (T893A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055039	NM_001039706.3(CFAP69):c.2681T>G (p.Val894Gly)	CFAP69 (V828G +2 more)	Single nucleotide variant (missense variant)	CFAP69-related disorder	GLikely benign
Select item 3143634	NM_001039706.3(CFAP69):c.2688C>G (p.Ser896Arg)	CFAP69 (S878R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364107	NM_001039706.3(CFAP69):c.2722G>A (p.Asp908Asn)	CFAP69 (D842N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516793	NM_001039706.3(CFAP69):c.2726C>A (p.Thr909Lys)	CFAP69 (T909K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143635	NM_001039706.3(CFAP69):c.2735C>T (p.Ala912Val)	CFAP69 (A846V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266511	NM_001039706.3(CFAP69):c.2758G>A (p.Gly920Arg)	CFAP69 (G854R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570073	NM_001039706.3(CFAP69):c.2822C>T (p.Thr941Met)	CFAP69 (T875M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684494	GRCh37/hg19 7q21.13(chr7:88851863-90433435)x3	CDK14, CFAP69 +5 more	Copy number gain	not provided	GUncertain significance

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