CFAP44[gene] - ClinVar - NCBI

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	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 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	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 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +398 more	Copy number loss	See cases	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 57980	GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3	LOC132088858, LOC132088860 +248 more	Copy number gain	See cases	GPathogenic
Select item 57804	GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)x1	ABHD10, ATG3 +186 more	Copy number loss	See cases	GPathogenic
Select item 57131	GRCh38/hg38 3q13.2-13.31(chr3:112168829-117393356)x1	LOC129937247, LOC129937248 +127 more	Copy number loss	See cases	GPathogenic
Select item 154065	GRCh38/hg38 3q13.2-13.31(chr3:112425234-115795585)x1	ATG3, ATP6V1A +106 more	Copy number loss	See cases	GPathogenic
Select item 149415	GRCh38/hg38 3q13.2-13.31(chr3:112465094-115774111)x1	GAP43, GRAMD1C +105 more	Copy number loss	See cases	GPathogenic
Select item 146287	GRCh38/hg38 3q13.2-13.31(chr3:112465096-115774102)x1	LOC129937275, LOC129937276 +105 more	Copy number loss	See cases	GLikely pathogenic
Select item 57805	GRCh38/hg38 3q13.2-13.31(chr3:112479482-115774102)x1	ATG3, ATP6V1A +105 more	Copy number loss	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 759663	NM_001164496.2(CFAP44):c.5553C>T (p.Pro1851=)	CFAP44, SPICE1-CFAP44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3352580	NM_001164496.2(CFAP44):c.5540_5541dup (p.Glu1848fs)	CFAP44, SPICE1-CFAP44 (E1848fs)	Duplication (non-coding transcript variant +1 more)	CFAP44-related disorder	GLikely pathogenic
Select item 2654039	NM_001164496.2(CFAP44):c.5535A>G (p.Arg1845=)	CFAP44, SPICE1-CFAP44	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 724581	NM_001164496.2(CFAP44):c.5533C>T (p.Arg1845Ter)	CFAP44, SPICE1-CFAP44 (R1845*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 3033995	NM_001164496.2(CFAP44):c.5451G>A (p.Ala1817=)	SPICE1-CFAP44, CFAP44	Single nucleotide variant (non-coding transcript variant +1 more)	CFAP44-related disorder	GLikely benign
Select item 755538	NM_001164496.2(CFAP44):c.5445C>G (p.Leu1815=)	CFAP44, SPICE1-CFAP44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717618	NM_001164496.2(CFAP44):c.5418A>G (p.Arg1806=)	CFAP44, SPICE1-CFAP44	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3352567	NM_001164496.2(CFAP44):c.5384T>C (p.Phe1795Ser)	CFAP44, SPICE1-CFAP44 (F1795S)	Single nucleotide variant (non-coding transcript variant +1 more)	CFAP44-related disorder	GUncertain significance
Select item 1176782	NM_001164496.2(CFAP44):c.5273T>C (p.Met1758Thr)	CFAP44, SPICE1-CFAP44 (M1758T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 799116	NM_001164496.2(CFAP44):c.5266C>T (p.Leu1756=)	CFAP44, SPICE1-CFAP44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 730215	NM_001164496.2(CFAP44):c.5163T>A (p.Asn1721Lys)	CFAP44, SPICE1-CFAP44 (N1721K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2350026	NM_001164496.2(CFAP44):c.5123G>A (p.Arg1708His)	CFAP44, SPICE1-CFAP44 (R1708H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 770705	NM_001164496.2(CFAP44):c.4951C>T (p.Arg1651Trp)	CFAP44, SPICE1-CFAP44 (R1651W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2654040	NM_001164496.2(CFAP44):c.4860G>A (p.Pro1620=)	CFAP44, SPICE1-CFAP44	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 764018	NM_001164496.2(CFAP44):c.4809T>G (p.Ala1603=)	CFAP44, SPICE1-CFAP44	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1267032	NM_001164496.2(CFAP44):c.4759-3C>T	CFAP44, SPICE1-CFAP44	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2654041	NM_001164496.2(CFAP44):c.4617T>C (p.Ile1539=)	CFAP44, SPICE1-CFAP44	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2385446	NM_001164496.2(CFAP44):c.4508G>A (p.Gly1503Glu)	CFAP44, SPICE1-CFAP44 (G106E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 791437	NM_001164496.2(CFAP44):c.4483C>T (p.Arg1495Trp)	SPICE1-CFAP44, CFAP44 (R1495W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2224238	NM_001164496.2(CFAP44):c.4478T>A (p.Ile1493Asn)	CFAP44, SPICE1-CFAP44 (I96N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2358940	NM_001164496.2(CFAP44):c.4348A>G (p.Met1450Val)	CFAP44, SPICE1-CFAP44 (M1450V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 746970	NM_001164496.2(CFAP44):c.4323G>T (p.Trp1441Cys)	SPICE1-CFAP44, CFAP44 (W1441C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2654042	NM_001164496.2(CFAP44):c.4108G>A (p.Val1370Ile)	CFAP44, SPICE1-CFAP44 (V1370I)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2408532	NM_001164496.2(CFAP44):c.4087G>C (p.Val1363Leu)	CFAP44, LOC127898559 (V1363L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 739316	NM_001164496.2(CFAP44):c.4087G>A (p.Val1363Met)	CFAP44, SPICE1-CFAP44 (V1363M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 773132	NM_001164496.2(CFAP44):c.3942T>A (p.Asp1314Glu)	CFAP44, SPICE1-CFAP44 (D1314E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 708883	NM_001164496.2(CFAP44):c.3915A>G (p.Gly1305=)	CFAP44, SPICE1-CFAP44	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 734675	NM_001164496.2(CFAP44):c.3876C>T (p.Pro1292=)	CFAP44, SPICE1-CFAP44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 755562	NM_001164496.2(CFAP44):c.3801G>A (p.Lys1267=)	CFAP44, SPICE1-CFAP44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723360	NM_001164496.2(CFAP44):c.3768T>A (p.Ile1256=)	CFAP44, SPICE1-CFAP44	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3051590	NM_001164496.2(CFAP44):c.3762C>T (p.Pro1254=)	CFAP44, SPICE1-CFAP44	Single nucleotide variant (non-coding transcript variant +1 more)	CFAP44-related disorder	GLikely benign
Select item 708656	NM_001164496.2(CFAP44):c.3755C>A (p.Pro1252His)	CFAP44, SPICE1-CFAP44 (P1252H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2654043	NM_001164496.2(CFAP44):c.3687G>A (p.Glu1229=)	CFAP44, SPICE1-CFAP44	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 796322	NM_001164496.2(CFAP44):c.3645G>A (p.Lys1215=)	CFAP44, SPICE1-CFAP44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 731086	NM_001164496.2(CFAP44):c.3615+8T>C	CFAP44, SPICE1-CFAP44	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 755926	NM_001164496.2(CFAP44):c.3576T>G (p.Ala1192=)	SPICE1-CFAP44, CFAP44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 795968	NM_001164496.2(CFAP44):c.3507G>T (p.Val1169=)	CFAP44, SPICE1-CFAP44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 713689	NM_001164496.2(CFAP44):c.3283G>A (p.Glu1095Lys)	CFAP44, SPICE1-CFAP44 (E1095K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 767924	NM_001164496.2(CFAP44):c.3176G>A (p.Arg1059Gln)	CFAP44, SPICE1-CFAP44 (R1059Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 523153	NM_001164496.2(CFAP44):c.3175C>T (p.Arg1059Ter)	CFAP44, LOC127898559 (R1059*)	Single nucleotide variant (nonsense)	Spermatogenic failure 20	GPathogenic
Select item 713690	NM_001164496.2(CFAP44):c.3043G>A (p.Gly1015Ser)	CFAP44, SPICE1-CFAP44 (G1015S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 761543	NM_001164496.2(CFAP44):c.3042C>T (p.Leu1014=)	CFAP44, SPICE1-CFAP44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 731431	NM_001164496.2(CFAP44):c.2976A>G (p.Arg992=)	CFAP44, SPICE1-CFAP44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 523150	NC_000003.12:g.113358867_113358876del	CFAP44, SPICE1-CFAP44	Deletion	Spermatogenic failure 20	GPathogenic
Select item 713691	NM_001164496.2(CFAP44):c.2883T>A (p.Asn961Lys)	CFAP44, SPICE1-CFAP44 (N961K)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3035896	NM_001164496.2(CFAP44):c.2844G>A (p.Lys948=)	CFAP44, SPICE1-CFAP44	Single nucleotide variant (non-coding transcript variant +1 more)	CFAP44-related disorder	GLikely benign
Select item 745642	NM_001164496.2(CFAP44):c.2840G>A (p.Arg947Gln)	CFAP44, SPICE1-CFAP44 (R947Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2466480	NM_001164496.2(CFAP44):c.2839C>T (p.Arg947Trp)	CFAP44, LOC127898559 (R947W)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3143489	NM_001164496.2(CFAP44):c.2822T>C (p.Val941Ala)	CFAP44, LOC127898559 (V941A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 523154	NM_001164496.2(CFAP44):c.2818dup (p.Glu940fs)	CFAP44, LOC127898559 (E940fs)	Duplication (frameshift variant)	Spermatogenic failure 20	GPathogenic
Select item 3046196	NM_001164496.2(CFAP44):c.2716-8T>C	CFAP44, SPICE1-CFAP44	Single nucleotide variant (intron variant)	CFAP44-related disorder	GLikely benign
Select item 2557172	NM_001164496.2(CFAP44):c.2705C>T (p.Pro902Leu)	CFAP44, LOC127898559 (P902L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 716190	NM_001164496.2(CFAP44):c.2679A>G (p.Leu893=)	CFAP44, SPICE1-CFAP44	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2632408	NM_001164496.2(CFAP44):c.2616del (p.Leu873fs)	CFAP44, LOC127898559 (L873fs)	Deletion (non-coding transcript variant +1 more)	CFAP44-related disorder	GLikely pathogenic
Select item 2330262	NM_001164496.2(CFAP44):c.2559G>A (p.Met853Ile)	CFAP44, LOC127898559 (M853I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620012	NM_001164496.2(CFAP44):c.2531G>A (p.Ser844Asn)	CFAP44, LOC127898559 (S844N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3038204	NM_001164496.2(CFAP44):c.2458A>G (p.Met820Val)	CFAP44, SPICE1-CFAP44 (M820V)	Single nucleotide variant (non-coding transcript variant +1 more)	CFAP44-related disorder	GBenign
Select item 2400317	NM_001164496.2(CFAP44):c.2423C>G (p.Pro808Arg)	CFAP44, LOC127898559 (P808R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 713692	NM_001164496.2(CFAP44):c.2396G>A (p.Arg799His)	CFAP44, SPICE1-CFAP44 (R799H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3143487	NM_001164496.2(CFAP44):c.2395C>T (p.Arg799Cys)	CFAP44, LOC127898559 (R799C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2534113	NM_001164496.2(CFAP44):c.2357G>A (p.Ser786Asn)	CFAP44, LOC127898559 (S786N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2260078	NM_001164496.2(CFAP44):c.2354G>A (p.Ser785Asn)	CFAP44, LOC127898559 (S785N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 711370	NM_001164496.2(CFAP44):c.2337C>A (p.Phe779Leu)	CFAP44, SPICE1-CFAP44 (F779L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 745602	NM_001164496.2(CFAP44):c.2322A>G (p.Leu774=)	CFAP44, SPICE1-CFAP44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3143486	NM_001164496.2(CFAP44):c.2306A>G (p.Tyr769Cys)	CFAP44, LOC127898559 (Y769C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2609991	NM_001164496.2(CFAP44):c.2275C>G (p.Pro759Ala)	CFAP44, LOC127898559 (P759A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2390324	NM_001164496.2(CFAP44):c.2218C>G (p.Pro740Ala)	CFAP44, LOC127898559 (P740A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479906	NM_001164496.2(CFAP44):c.2108G>T (p.Arg703Met)	CFAP44, LOC127898559 (R703M)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3143485	NM_001164496.2(CFAP44):c.2103A>T (p.Lys701Asn)	CFAP44, LOC127898559 (K701N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2615176	NM_001164496.2(CFAP44):c.2064A>C (p.Glu688Asp)	CFAP44, LOC127898559 (E688D)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 430938	NM_001164496.2(CFAP44):c.2005_2006del (p.Met669fs)	CFAP44, LOC127898559 (M669fs)	Deletion (frameshift variant)	Spermatogenic failure 20	GPathogenic
Select item 798932	NM_001164496.2(CFAP44):c.1944A>G (p.Pro648=)	CFAP44, SPICE1-CFAP44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2207196	NM_001164496.2(CFAP44):c.1872G>A (p.Met624Ile)	CFAP44, LOC127898559 (M624I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556006	NM_001164496.2(CFAP44):c.1832T>C (p.Ile611Thr)	CFAP44, LOC127898559 (I611T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 523151	NM_001164496.2(CFAP44):c.1769T>A (p.Leu590Gln)	CFAP44, LOC127898559 (L590Q)	Single nucleotide variant (missense variant)	Spermatogenic failure 20	GPathogenic
Select item 729014	NM_001164496.2(CFAP44):c.1768C>G (p.Leu590Val)	CFAP44, SPICE1-CFAP44 (L590V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2280662	NM_001164496.2(CFAP44):c.1762G>A (p.Glu588Lys)	CFAP44, LOC127898559 (E588K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3143483	NM_001164496.2(CFAP44):c.1664C>T (p.Ala555Val)	CFAP44, LOC127898559 (A555V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3143482	NM_001164496.2(CFAP44):c.1642C>A (p.Pro548Thr)	CFAP44, LOC127898559 (P548T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2619525	NM_001164496.2(CFAP44):c.1606G>C (p.Glu536Gln)	CFAP44, LOC127898559 (E536Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3048518	NM_001164496.2(CFAP44):c.1570-5C>T	CFAP44, SPICE1-CFAP44	Single nucleotide variant (intron variant)	CFAP44-related disorder	GLikely benign
Select item 748911	NM_001164496.2(CFAP44):c.1570-7del	CFAP44, SPICE1-CFAP44	Deletion (intron variant)	not provided	GLikely benign
Select item 3143481	NM_001164496.2(CFAP44):c.1565G>A (p.Arg522Gln)	CFAP44, LOC127898559 (R522Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 760210	NM_001164496.2(CFAP44):c.1524G>A (p.Met508Ile)	CFAP44, SPICE1-CFAP44 (M508I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3143479	NM_001164496.2(CFAP44):c.1504A>C (p.Lys502Gln)	CFAP44, LOC127898559 (K502Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance

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