CFAP91[gene] - ClinVar

Search results

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 154658	GRCh38/hg38 3q13.2-13.33(chr3:112520553-120031022)x1	ADPRH, ARHGAP31 +191 more	Copy number loss	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	LOC129937275, LOC129937276 +286 more	Copy number loss	See cases	GPathogenic
Select item 146711	GRCh38/hg38 3q13.31-21.1(chr3:115019074-122513398)x1	LOC129937337, LOC129937338 +199 more	Copy number loss	See cases	GPathogenic
Select item 154810	GRCh38/hg38 3q13.32-13.33(chr3:117844958-120826621)x4	ADPRH, ARHGAP31 +101 more	Copy number gain	See cases	GUncertain significance
Select item 146286	GRCh38/hg38 3q13.32-13.33(chr3:117844958-120797026)x4	ADPRH, ARHGAP31 +100 more	Copy number gain	See cases	GUncertain significance
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	ADCY5, ADPRH +326 more	Copy number loss	See cases	GPathogenic
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC129937413, LOC129937414 +291 more	Copy number loss	See cases	GPathogenic
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 2457790	NM_033364.4(CFAP91):c.88C>T (p.His30Tyr)	CFAP91, LOC129937328 (H30Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3143729	NM_033364.4(CFAP91):c.98C>T (p.Ser33Phe)	CFAP91, LOC129937328 (S33F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 812096	NM_033364.4(CFAP91):c.124G>C (p.Asp42His)	CFAP91, LOC129937328 (D42H)	Single nucleotide variant (synonymous variant +2 more)	Spermatogenic failure 51 +1 more	GPathogenic
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
Select item 1808592	GRCh37/hg19 3q13.31-13.33(chr3:116109191-120328013)x1	ADPRH, ARHGAP31 +20 more	Copy number loss	not provided	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527038	GRCh37/hg19 3q13.33(chr3:119354755-119773920)	CFAP91, COX17 +3 more	Copy number gain	not specified	GUncertain significance
Select item 562809	GRCh37/hg19 3q13.31-21.1(chr3:115518341-122129283)x1	HCLS1, ARGFX +38 more	Copy number loss	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 395633	GRCh37/hg19 3q13.33(chr3:119188677-119500751)x3	ADPRH, CD80 +7 more	Copy number gain	See cases	GUncertain significance
Select item 253772	GRCh37/hg19 3q13.33(chr3:119188677-119500810)x3	CFAP91, PLA1A +7 more	Copy number gain	See cases	GUncertain significance

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Items: 97