CFAP91[gene] and "single gene"[properties] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2601622	NM_033364.4(CFAP91):c.22G>C (p.Glu8Gln)	CFAP91 (E8Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3143722	NM_033364.4(CFAP91):c.65G>A (p.Arg22Gln)	CFAP91 (R22Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3143725	NM_033364.4(CFAP91):c.71G>A (p.Arg24Lys)	CFAP91 (R24K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3025363	NM_033364.4(CFAP91):c.159T>C (p.His53=)	CFAP91	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2487609	NM_033364.4(CFAP91):c.161C>T (p.Thr54Ile)	CFAP91 (T54I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600760	NM_033364.4(CFAP91):c.190C>T (p.Arg64Cys)	CFAP91 (R64C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492191	NM_033364.4(CFAP91):c.245A>G (p.His82Arg)	CFAP91 (H20R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508518	NM_033364.4(CFAP91):c.304C>T (p.Arg102Trp)	CFAP91 (R40W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143712	NM_033364.4(CFAP91):c.319C>T (p.His107Tyr)	CFAP91 (H107Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143713	NM_033364.4(CFAP91):c.347G>A (p.Arg116Gln)	CFAP91 (R96Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2472676	NM_033364.4(CFAP91):c.365A>C (p.Asp122Ala)	CFAP91 (D102A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143714	NM_033364.4(CFAP91):c.419A>G (p.Lys140Arg)	CFAP91 (K120R +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2536695	NM_033364.4(CFAP91):c.425G>C (p.Arg142Pro)	CFAP91 (R122P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143715	NM_033364.4(CFAP91):c.427T>C (p.Tyr143His)	CFAP91 (Y123H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143716	NM_033364.4(CFAP91):c.430A>G (p.Lys144Glu)	CFAP91 (K82E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143717	NM_033364.4(CFAP91):c.446C>T (p.Pro149Leu)	CFAP91 (P23L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143719	NM_033364.4(CFAP91):c.493G>A (p.Val165Ile)	CFAP91 (V165I +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1335536	NM_033364.4(CFAP91):c.501-3T>C	CFAP91	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3143720	NM_033364.4(CFAP91):c.512A>T (p.Tyr171Phe)	CFAP91 (Y45F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143721	NM_033364.4(CFAP91):c.535A>G (p.Lys179Glu)	CFAP91 (K117E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266548	NM_033364.4(CFAP91):c.586C>T (p.Arg196Trp)	CFAP91 (R134W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 812095	NM_033364.4(CFAP91):c.682+1G>A	CFAP91	Single nucleotide variant (splice donor variant)	Male infertility with teratozoospermia due to single gene mutation +1 more	GPathogenic
Select item 3143723	NM_033364.4(CFAP91):c.688G>A (p.Gly230Ser)	CFAP91 (G104S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143724	NM_033364.4(CFAP91):c.694C>G (p.Pro232Ala)	CFAP91 (P212A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482006	NM_033364.4(CFAP91):c.736G>A (p.Glu246Lys)	CFAP91 (E184K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143726	NM_033364.4(CFAP91):c.746C>A (p.Ala249Asp)	CFAP91 (A187D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143727	NM_033364.4(CFAP91):c.852G>C (p.Glu284Asp)	CFAP91 (E264D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510696	NM_033364.4(CFAP91):c.875G>T (p.Arg292Leu)	CFAP91 (R166L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472214	NM_033364.4(CFAP91):c.907C>T (p.Arg303Cys)	CFAP91 (R303C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549863	NM_033364.4(CFAP91):c.908G>A (p.Arg303His)	CFAP91 (R303H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143728	NM_033364.4(CFAP91):c.934A>G (p.Met312Val)	CFAP91 (M250V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604779	NM_033364.4(CFAP91):c.952C>T (p.Arg318Trp)	CFAP91 (R256W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614476	NM_033364.4(CFAP91):c.996A>C (p.Lys332Asn)	CFAP91 (K312N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143685	NM_033364.4(CFAP91):c.1003C>T (p.Arg335Cys)	CFAP91 (R209C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558562	NM_033364.4(CFAP91):c.1070G>A (p.Arg357Lys)	CFAP91 (R295K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266546	NM_033364.4(CFAP91):c.1079T>C (p.Ile360Thr)	CFAP91 (I340T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143686	NM_033364.4(CFAP91):c.1121C>T (p.Pro374Leu)	CFAP91 (P312L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143687	NM_033364.4(CFAP91):c.1153A>T (p.Asn385Tyr)	CFAP91 (N323Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143688	NM_033364.4(CFAP91):c.1154A>C (p.Asn385Thr)	CFAP91 (N259T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143689	NM_033364.4(CFAP91):c.1165T>C (p.Phe389Leu)	CFAP91 (F327L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266543	NM_033364.4(CFAP91):c.1181A>G (p.Tyr394Cys)	CFAP91 (Y394C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143691	NM_033364.4(CFAP91):c.1247C>A (p.Pro416His)	CFAP91 (P290H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597036	NM_033364.4(CFAP91):c.1336G>A (p.Val446Ile)	CFAP91 (V426I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143692	NM_033364.4(CFAP91):c.1346C>T (p.Ala449Val)	CFAP91 (A323V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143693	NM_033364.4(CFAP91):c.1361A>C (p.Lys454Thr)	CFAP91 (K434T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143694	NM_033364.4(CFAP91):c.1387C>A (p.Pro463Thr)	CFAP91 (P443T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456900	NM_033364.4(CFAP91):c.1393C>T (p.Arg465Cys)	CFAP91 (R339C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143695	NM_033364.4(CFAP91):c.1414A>G (p.Ile472Val)	CFAP91 (I452V +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2535914	NM_033364.4(CFAP91):c.1426C>T (p.Arg476Trp)	CFAP91 (R414W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143696	NM_033364.4(CFAP91):c.1460A>G (p.Asn487Ser)	CFAP91 (N487S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543164	NM_033364.4(CFAP91):c.1471G>C (p.Glu491Gln)	CFAP91 (E429Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143698	NM_033364.4(CFAP91):c.1474A>C (p.Met492Leu)	CFAP91 (M366L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266547	NM_033364.4(CFAP91):c.1529A>G (p.Asn510Ser)	CFAP91 (N490S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143699	NM_033364.4(CFAP91):c.1579C>T (p.Arg527Cys)	CFAP91 (R401C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143700	NM_033364.4(CFAP91):c.1603G>C (p.Asp535His)	CFAP91 (D409H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266544	NM_033364.4(CFAP91):c.1615G>A (p.Val539Met)	CFAP91 (V413M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2442160	NM_033364.4(CFAP91):c.1633C>T (p.Gln545Ter)	CFAP91 (Q419* +3 more)	Single nucleotide variant (nonsense)	Spermatogenic failure 51	GLikely pathogenic
Select item 2471783	NM_033364.4(CFAP91):c.1651C>G (p.Gln551Glu)	CFAP91 (Q551E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266549	NM_033364.4(CFAP91):c.1747C>A (p.Leu583Met)	CFAP91 (L457M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143701	NM_033364.4(CFAP91):c.1792G>T (p.Ala598Ser)	CFAP91 (A472S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143702	NM_033364.4(CFAP91):c.1814G>A (p.Arg605His)	CFAP91 (R585H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515165	NM_033364.4(CFAP91):c.1847G>A (p.Gly616Asp)	CFAP91 (G490D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143703	NM_033364.4(CFAP91):c.1850G>A (p.Arg617Gln)	CFAP91 (R555Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143704	NM_033364.4(CFAP91):c.1870C>T (p.Arg624Cys)	CFAP91 (R604C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266545	NM_033364.4(CFAP91):c.1877G>A (p.Arg626Gln)	CFAP91 (R626Q +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3143705	NM_033364.4(CFAP91):c.1950A>G (p.Ile650Met)	CFAP91 (I630M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588756	NM_033364.4(CFAP91):c.1963G>A (p.Glu655Lys)	CFAP91 (E635K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143706	NM_033364.4(CFAP91):c.2054G>A (p.Arg685Gln)	CFAP91 (R623Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143707	NM_033364.4(CFAP91):c.2077A>G (p.Ile693Val)	CFAP91 (I673V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143708	NM_033364.4(CFAP91):c.2152G>A (p.Ala718Thr)	CFAP91 (A718T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266542	NM_033364.4(CFAP91):c.2207G>T (p.Ser736Ile)	CFAP91 (S716I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143709	NM_033364.4(CFAP91):c.2207G>A (p.Ser736Asn)	CFAP91 (S736N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143710	NM_033364.4(CFAP91):c.2249C>T (p.Ala750Val)	CFAP91 (A624V +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3143711	NM_033364.4(CFAP91):c.2292G>T (p.Glu764Asp)	CFAP91 (E744D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 74