CFAP300[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	LINC02553, LINC02700 +528 more	Copy number loss	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 147379	GRCh38/hg38 11q22.1-22.3(chr11:98357901-106059146)x1	LOC132089949, LOC132089950 +149 more	Copy number loss	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic
Select item 147688	GRCh38/hg38 11q22.1-22.3(chr11:101452984-104044105)x3	ANGPTL5, BIRC2 +73 more	Copy number gain	See cases	GPathogenic
Select item 1681443	NM_032930.3(CFAP300):c.7A>G (p.Thr3Ala)	CFAP300 (T3A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1681444	NM_032930.3(CFAP300):c.16C>T (p.Leu6Phe)	CFAP300 (L6F)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1681445	NM_032930.3(CFAP300):c.21G>A (p.Gly7=)	CFAP300	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2162541	NM_032930.3(CFAP300):c.24_29dup (p.Gly10_Gly11insLeuGly)	CFAP300	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2904212	NM_032930.3(CFAP300):c.30T>C (p.Gly10=)	CFAP300	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3143446	NM_032930.3(CFAP300):c.41T>G (p.Phe14Cys)	CFAP300 (F14C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1681446	NM_032930.3(CFAP300):c.77G>C (p.Ser26Thr)	CFAP300 (S26T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2043827	NM_032930.3(CFAP300):c.88A>G (p.Ile30Val)	CFAP300 (I30V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2114703	NM_032930.3(CFAP300):c.102C>T (p.Leu34=)	CFAP300	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785963	NM_032930.3(CFAP300):c.110+1G>T	CFAP300	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2966358	NM_032930.3(CFAP300):c.110+10C>T	CFAP300	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1988797	NM_032930.3(CFAP300):c.110+16A>T	CFAP300	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192590	NM_032930.3(CFAP300):c.110+16A>G	CFAP300	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1681447	NM_032930.3(CFAP300):c.110+18A>C	CFAP300	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2133922	NM_032930.3(CFAP300):c.111-14C>T	CFAP300	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2821998	NM_032930.3(CFAP300):c.111-12C>T	CFAP300	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996036	NM_032930.3(CFAP300):c.111-6C>T	CFAP300	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2755591	NM_032930.3(CFAP300):c.111-4C>A	CFAP300	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1961590	NM_032930.3(CFAP300):c.120G>A (p.Leu40=)	CFAP300	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1681448	NM_032930.3(CFAP300):c.134C>T (p.Ala45Val)	CFAP300 (A45V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2118136	NM_032930.3(CFAP300):c.135G>T (p.Ala45=)	CFAP300	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 549860	NM_032930.3(CFAP300):c.154C>T (p.Gln52Ter)	CFAP300 (Q52*)	Single nucleotide variant (nonsense)	Ciliary dyskinesia, primary, 38	GPathogenic
Select item 1681449	NM_032930.3(CFAP300):c.168C>T (p.Ser56=)	CFAP300	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1681450	NM_032930.3(CFAP300):c.174G>A (p.Arg58=)	CFAP300	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024078	NM_032930.3(CFAP300):c.175A>T (p.Lys59Ter)	CFAP300 (K59*)	Single nucleotide variant (nonsense)	Ciliary dyskinesia, primary, 38	GLikely pathogenic
Select item 2095494	NM_032930.3(CFAP300):c.177G>A (p.Lys59=)	CFAP300	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1681451	NM_032930.3(CFAP300):c.185T>C (p.Phe62Ser)	CFAP300 (F62S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2784387	NM_032930.3(CFAP300):c.192+19G>A	CFAP300	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178298	NM_032930.3(CFAP300):c.192+59A>C	CFAP300	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1976229	NM_032930.3(CFAP300):c.193-16C>T	CFAP300	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 807552	NM_032930.3(CFAP300):c.200del (p.Phe67fs)	CFAP300 (F67fs)	Deletion (frameshift variant)	Ciliary dyskinesia, primary, 38	GPathogenic
Select item 549862	NM_032930.3(CFAP300):c.198_200delinsCC (p.Phe67fs)	CFAP300 (F67fs)	Indel (frameshift variant)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 1681452	NM_032930.3(CFAP300):c.210A>C (p.Pro70=)	CFAP300	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1681453	NM_032930.3(CFAP300):c.268+13T>C	CFAP300	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1681454	NM_032930.3(CFAP300):c.268+16A>G	CFAP300	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2968767	NM_032930.3(CFAP300):c.285A>G (p.Lys95=)	CFAP300	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1956807	NM_032930.3(CFAP300):c.289G>T (p.Glu97Ter)	CFAP300 (E97*)	Single nucleotide variant (intron variant +1 more)	not provided	GPathogenic
Select item 1956495	NM_032930.3(CFAP300):c.299A>G (p.Asn100Ser)	CFAP300 (N100S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1681455	NM_032930.3(CFAP300):c.302T>C (p.Val101Ala)	CFAP300 (V101A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1681456	NM_032930.3(CFAP300):c.304C>T (p.Pro102Ser)	CFAP300 (P102S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1681457	NM_032930.3(CFAP300):c.309C>T (p.Cys103=)	CFAP300	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2885787	NM_032930.3(CFAP300):c.313C>T (p.Gln105Ter)	CFAP300 (Q105*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 549859	NM_032930.3(CFAP300):c.361C>T (p.Arg121Ter)	CFAP300 (R121*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 2044999	NM_032930.3(CFAP300):c.367A>G (p.Ser123Gly)	CFAP300 (S123G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1681458	NM_032930.3(CFAP300):c.369T>C (p.Ser123=)	CFAP300	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1989970	NM_032930.3(CFAP300):c.385T>C (p.Cys129Arg)	CFAP300 (C129R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 549861	NM_032930.3(CFAP300):c.433A>T (p.Arg145Ter)	CFAP300 (R145*)	Single nucleotide variant (intron variant +1 more)	not provided	GPathogenic
Select item 2893018	NM_032930.3(CFAP300):c.435+4A>G	CFAP300	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 2982114	NM_032930.3(CFAP300):c.435+8C>T	CFAP300	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964722	NM_032930.3(CFAP300):c.435+19_435+39dup	CFAP300	Duplication (intron variant)	not provided	GLikely benign
Select item 1681459	NM_032930.3(CFAP300):c.436-12T>C	CFAP300	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1681460	NM_032930.3(CFAP300):c.436-7G>A	CFAP300	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2758369	NM_032930.3(CFAP300):c.456A>T (p.Ser152=)	CFAP300 (R97*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign
Select item 2719579	NM_032930.3(CFAP300):c.478C>T (p.Gln160Ter)	CFAP300 (Q160*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 1681461	NM_032930.3(CFAP300):c.524G>T (p.Cys175Phe)	CFAP300 (C175F)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2977445	NM_032930.3(CFAP300):c.567A>G (p.Pro189=)	CFAP300	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2135897	NM_032930.3(CFAP300):c.570T>C (p.Tyr190=)	CFAP300	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1681463	NM_032930.3(CFAP300):c.585G>T (p.Lys195Asn)	CFAP300 (K195N)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1681462	NM_032930.3(CFAP300):c.585G>A (p.Lys195=)	CFAP300	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1681464	NM_032930.3(CFAP300):c.597G>A (p.Lys199=)	CFAP300	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1957269	NM_032930.3(CFAP300):c.601C>T (p.Leu201=)	CFAP300	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1930379	NM_032930.3(CFAP300):c.608G>A (p.Ser203Asn)	CFAP300 (S203N)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1681465	NM_032930.3(CFAP300):c.610G>T (p.Val204Phe)	CFAP300 (V204F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1970143	NM_032930.3(CFAP300):c.613C>T (p.Arg205Ter)	CFAP300 (R205*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1681466	NM_032930.3(CFAP300):c.629C>G (p.Thr210Ser)	CFAP300 (T210S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2017411	NM_032930.3(CFAP300):c.647C>T (p.Thr216Ile)	CFAP300 (T216I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2721966	NM_032930.3(CFAP300):c.654T>G (p.Ser218=)	CFAP300	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3013949	NM_032930.3(CFAP300):c.675+5G>A	CFAP300	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 2837440	NM_032930.3(CFAP300):c.675+8_675+9del	CFAP300	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1681467	NM_032930.3(CFAP300):c.676-19T>C	CFAP300	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1976908	NM_032930.3(CFAP300):c.688A>G (p.Met230Val)	CFAP300 (M230V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1681468	NM_032930.3(CFAP300):c.690G>A (p.Met230Ile)	CFAP300 (M206I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1065351	NM_032930.3(CFAP300):c.693_694insGA (p.Tyr232fs)	CFAP300 (Y208fs +1 more)	Insertion (frameshift variant)	Heterotaxy	GPathogenic
Select item 1951449	NM_032930.3(CFAP300):c.700T>A (p.Ser234Thr)	CFAP300 (S234T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987750	NM_032930.3(CFAP300):c.703G>A (p.Ala235Thr)	CFAP300 (A235T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1681469	NM_032930.3(CFAP300):c.705A>G (p.Ala235=)	CFAP300	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1914676	NM_032930.3(CFAP300):c.710A>T (p.Asn237Ile)	CFAP300 (N237I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3143447	NM_032930.3(CFAP300):c.717A>C (p.Glu239Asp)	CFAP300 (E215D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2028981	NM_032930.3(CFAP300):c.732C>T (p.Tyr244=)	CFAP300	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1681470	NM_032930.3(CFAP300):c.754C>T (p.Arg252Cys)	CFAP300 (R228C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3143448	NM_032930.3(CFAP300):c.755G>A (p.Arg252His)	CFAP300 (R252H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1996843	NM_032930.3(CFAP300):c.765T>C (p.His255=)	CFAP300	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2119267	NM_032930.3(CFAP300):c.766G>A (p.Val256Ile)	CFAP300 (V232I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 549858	NM_032930.3(CFAP300):c.776A>G (p.His259Arg)	CFAP300 (H259R +1 more)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 38	GPathogenic
Select item 1965958	NM_032930.3(CFAP300):c.783T>C (p.Tyr261=)	CFAP300	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2684654	GRCh37/hg19 11q21-22.3(chr11:97147292-102979905)x3	ANGPTL5, ARHGAP42 +20 more	Copy number gain	not provided	GUncertain significance
Select item 2427084	NC_000011.9:g.(?_101374735)_(103349981_?)dup	ANGPTL5, BIRC2 +17 more	Duplication	not provided	GUncertain significance
Select item 1809349	GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1	AMOTL1, ANGPTL5 +93 more	Copy number loss	not provided	GPathogenic
Select item 1807932	GRCh37/hg19 11q22.1-22.3(chr11:99059204-103281943)x3	ANGPTL5, ARHGAP42 +22 more	Copy number gain	not provided	GUncertain significance
Select item 1807796	GRCh37/hg19 11q22.1-22.3(chr11:98770072-104602846)x1	ANGPTL5, ARHGAP42 +24 more	Copy number loss	not provided	GLikely pathogenic
Select item 1807688	GRCh37/hg19 11q22.1-22.3(chr11:101371503-109306519)x1	ACAT1, ALKBH8 +47 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1681441	NC_000011.9:g.(?_101918202)_(101918647_?)del	CFAP300	Deletion	not provided	GPathogenic
Select item 1455268	NC_000011.9:g.(?_101323686)_(103349981_?)del	ANGPTL5, BIRC2 +17 more	Deletion	not provided	GPathogenic

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