CFAP61[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 146116	GRCh38/hg38 20p12.1-11.22(chr20:17772771-21426789)x1	CFAP61, CFAP61-AS1 +117 more	Copy number loss	See cases	GPathogenic
Select item 2652228	NM_015585.4(CFAP61):c.-37+87G>A	CFAP61, CRNKL1 +1 more (Q38* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GLikely benign
Select item 2378681	NM_016652.6(CRNKL1):c.23T>C (p.Leu8Pro)	CFAP61, CRNKL1 (L8P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2343684	NM_015585.4(CFAP61):c.11T>C (p.Leu4Pro)	CFAP61 (L4P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312022	NM_015585.4(CFAP61):c.37G>A (p.Val13Ile)	CFAP61 (V13I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266505	NM_015585.4(CFAP61):c.139C>G (p.Leu47Val)	CFAP61 (L47V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652229	NM_015585.4(CFAP61):c.141T>C (p.Leu47=)	CFAP61	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2504100	NM_015585.4(CFAP61):c.143+5G>A	CFAP61	Single nucleotide variant (intron variant)	Spermatogenic failure 84	GPathogenic
Select item 2504105	NM_015585.4(CFAP61):c.144-2A>G	CFAP61	Single nucleotide variant (splice acceptor variant)	Spermatogenic failure 84	GPathogenic
Select item 2307624	NM_015585.4(CFAP61):c.185A>G (p.Glu62Gly)	CFAP61 (E62G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652230	NM_015585.4(CFAP61):c.269A>C (p.Glu90Ala)	CFAP61 (E90A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3143600	NM_015585.4(CFAP61):c.274G>A (p.Asp92Asn)	CFAP61 (D92N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143605	NM_015585.4(CFAP61):c.302A>G (p.Asn101Ser)	CFAP61 (N101S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143607	NM_015585.4(CFAP61):c.314T>C (p.Met105Thr)	CFAP61 (M105T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143608	NM_015585.4(CFAP61):c.336T>A (p.Asp112Glu)	CFAP61 (D112E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254181	NM_015585.4(CFAP61):c.339G>C (p.Glu113Asp)	CFAP61 (E113D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304285	NM_015585.4(CFAP61):c.376G>A (p.Val126Met)	CFAP61 (V126M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143610	NM_015585.4(CFAP61):c.433A>T (p.Ser145Cys)	CFAP61 (S145C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273914	NM_015585.4(CFAP61):c.448C>G (p.Leu150Val)	CFAP61 (L150V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2504101	NM_015585.4(CFAP61):c.452_453del (p.Ile151fs)	CFAP61 (I151fs)	Deletion (frameshift variant)	Spermatogenic failure 84	GPathogenic
Select item 3143611	NM_015585.4(CFAP61):c.463G>A (p.Asp155Asn)	CFAP61 (D155N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291753	NM_015585.4(CFAP61):c.508G>T (p.Ala170Ser)	CFAP61 (A170S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353745	NM_015585.4(CFAP61):c.557G>A (p.Arg186His)	CFAP61 (R186H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483708	NM_015585.4(CFAP61):c.577C>T (p.His193Tyr)	CFAP61 (H193Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218055	NM_015585.4(CFAP61):c.578A>C (p.His193Pro)	CFAP61 (H193P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266492	NM_015585.4(CFAP61):c.583G>A (p.Asp195Asn)	CFAP61 (D195N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266503	NM_015585.4(CFAP61):c.597A>G (p.Ile199Met)	CFAP61 (I199M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266498	NM_015585.4(CFAP61):c.605G>A (p.Arg202His)	CFAP61 (R202H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2483709	NM_015585.4(CFAP61):c.607T>A (p.Tyr203Asn)	CFAP61 (Y203N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509207	NM_015585.4(CFAP61):c.625G>A (p.Glu209Lys)	CFAP61 (E209K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143613	NM_015585.4(CFAP61):c.700G>A (p.Val234Met)	CFAP61 (V234M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556684	NM_015585.4(CFAP61):c.707G>T (p.Gly236Val)	CFAP61 (G236V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359737	NM_015585.4(CFAP61):c.742G>A (p.Val248Met)	CFAP61 (V248M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386462	NM_015585.4(CFAP61):c.790G>A (p.Gly264Arg)	CFAP61 (G264R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143614	NM_015585.4(CFAP61):c.826T>C (p.Ser276Pro)	CFAP61 (S276P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2504102	NM_015585.4(CFAP61):c.847C>T (p.Arg283Ter)	CFAP61 (R283*)	Single nucleotide variant (nonsense)	Spermatogenic failure 84	GPathogenic
Select item 2411484	NM_015585.4(CFAP61):c.848G>A (p.Arg283Gln)	CFAP61 (R283Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2229474	NM_015585.4(CFAP61):c.867G>T (p.Glu289Asp)	CFAP61 (E289D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266510	NM_015585.4(CFAP61):c.871A>G (p.Arg291Gly)	CFAP61 (R291G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266504	NM_015585.4(CFAP61):c.886G>A (p.Gly296Ser)	CFAP61 (G296S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143615	NM_015585.4(CFAP61):c.977C>T (p.Ser326Phe)	CFAP61 (S326F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521589	NM_015585.4(CFAP61):c.1046A>C (p.Asp349Ala)	CFAP61 (D349A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333353	NM_015585.4(CFAP61):c.1068G>T (p.Gln356His)	CFAP61 (Q356H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363544	NM_015585.4(CFAP61):c.1078G>A (p.Val360Ile)	CFAP61 (V360I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2477327	NM_015585.4(CFAP61):c.1123G>A (p.Val375Ile)	CFAP61 (V375I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463323	NM_015585.4(CFAP61):c.1132C>T (p.Arg378Cys)	CFAP61 (R378C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376140	NM_015585.4(CFAP61):c.1133G>A (p.Arg378His)	CFAP61 (R378H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652231	NM_015585.4(CFAP61):c.1146G>C (p.Arg382Ser)	CFAP61 (R382S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2296763	NM_015585.4(CFAP61):c.1201G>A (p.Ala401Thr)	CFAP61 (A401T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360224	NM_015585.4(CFAP61):c.1208C>T (p.Ser403Leu)	CFAP61 (S403L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476905	NM_015585.4(CFAP61):c.1243T>C (p.Ser415Pro)	CFAP61 (S415P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2244515	NM_015585.4(CFAP61):c.1273C>T (p.Pro425Ser)	CFAP61 (P425S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143592	NM_015585.4(CFAP61):c.1286C>T (p.Pro429Leu)	CFAP61 (P429L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325726	NM_015585.4(CFAP61):c.1403T>C (p.Phe468Ser)	CFAP61 (F468S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143594	NM_015585.4(CFAP61):c.1427G>A (p.Gly476Asp)	CFAP61 (G476D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509222	NM_015585.4(CFAP61):c.1498G>A (p.Ala500Thr)	CFAP61 (A500T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143595	NM_015585.4(CFAP61):c.1502G>A (p.Arg501His)	CFAP61 (R501H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610061	NM_015585.4(CFAP61):c.1511C>G (p.Pro504Arg)	CFAP61 (P504R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282163	NM_015585.4(CFAP61):c.1549G>A (p.Ala517Thr)	CFAP61 (A517T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266506	NM_015585.4(CFAP61):c.1565G>T (p.Gly522Val)	CFAP61 (G522V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266501	NM_015585.4(CFAP61):c.1583A>G (p.Asn528Ser)	CFAP61 (N528S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282225	NM_015585.4(CFAP61):c.1607G>A (p.Arg536Gln)	CFAP61 (R536Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2504103	NM_015585.4(CFAP61):c.1654C>T (p.Arg552Cys)	CFAP61 (R552C)	Single nucleotide variant (missense variant)	Spermatogenic failure 84	GPathogenic
Select item 2504106	NM_015585.4(CFAP61):c.1666G>A (p.Gly556Arg)	CFAP61 (G556R)	Single nucleotide variant (missense variant)	Spermatogenic failure 84	GPathogenic
Select item 2259283	NM_015585.4(CFAP61):c.1672A>G (p.Met558Val)	CFAP61 (M558V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228917	NM_015585.4(CFAP61):c.1703G>C (p.Arg568Pro)	CFAP61 (R568P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143596	NM_015585.4(CFAP61):c.1739G>A (p.Arg580His)	CFAP61 (R580H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266494	NM_015585.4(CFAP61):c.1769G>A (p.Arg590His)	CFAP61 (R590H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568060	NM_015585.4(CFAP61):c.1808C>G (p.Pro603Arg)	CFAP61 (P603R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312091	NM_015585.4(CFAP61):c.1852G>A (p.Val618Met)	CFAP61 (V618M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143597	NM_015585.4(CFAP61):c.1903G>T (p.Ala635Ser)	CFAP61 (A635S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242876	NM_015585.4(CFAP61):c.2158G>A (p.Asp720Asn)	CFAP61 (D720N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283132	NM_015585.4(CFAP61):c.2175T>G (p.Asp725Glu)	CFAP61 (D725E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266495	NM_015585.4(CFAP61):c.2314G>A (p.Gly772Arg)	CFAP61 (G772R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266499	NM_015585.4(CFAP61):c.2399G>A (p.Arg800Gln)	CFAP61, CFAP61-AS1 (R800Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2282549	NM_015585.4(CFAP61):c.2402G>C (p.Arg801Pro)	CFAP61, CFAP61-AS1 (R801P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266508	NM_015585.4(CFAP61):c.2411G>A (p.Gly804Glu)	CFAP61, CFAP61-AS1 (G804E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615987	NM_015585.4(CFAP61):c.2468T>G (p.Leu823Arg)	CFAP61, CFAP61-AS1 (L823R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372637	NM_015585.4(CFAP61):c.2507A>G (p.Asn836Ser)	CFAP61 (N836S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402350	NM_015585.4(CFAP61):c.2531T>C (p.Ile844Thr)	CFAP61 (I844T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143598	NM_015585.4(CFAP61):c.2557C>T (p.Leu853Phe)	CFAP61 (L853F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266502	NM_015585.4(CFAP61):c.2570G>C (p.Gly857Ala)	CFAP61 (G857A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409743	NM_015585.4(CFAP61):c.2612C>T (p.Ala871Val)	CFAP61 (A871V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143599	NM_015585.4(CFAP61):c.2617A>G (p.Thr873Ala)	CFAP61 (T873A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276775	NM_015585.4(CFAP61):c.2642C>G (p.Ser881Trp)	CFAP61 (S881W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538171	NM_015585.4(CFAP61):c.2691G>C (p.Met897Ile)	CFAP61 (M897I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2381480	NM_015585.4(CFAP61):c.2771C>T (p.Thr924Ile)	CFAP61 (T924I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143601	NM_015585.4(CFAP61):c.2789A>T (p.Gln930Leu)	CFAP61 (Q930L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266509	NM_015585.4(CFAP61):c.2801T>C (p.Phe934Ser)	CFAP61 (F934S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310585	NM_015585.4(CFAP61):c.2813G>A (p.Cys938Tyr)	CFAP61 (C938Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143602	NM_015585.4(CFAP61):c.2879G>A (p.Arg960Gln)	CFAP61 (R960Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2504104	NM_015585.4(CFAP61):c.2911G>A (p.Asp971Asn)	CFAP61 (D971N)	Single nucleotide variant (missense variant)	Spermatogenic failure 84	GPathogenic
Select item 3143603	NM_015585.4(CFAP61):c.2914A>G (p.Ile972Val)	CFAP61 (I972V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143604	NM_015585.4(CFAP61):c.2927C>G (p.Ala976Gly)	CFAP61 (A976G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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