CFAP57[gene] - ClinVar

Search results

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59966	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	ARTN, ATP6V0B +279 more	Copy number loss	See cases	GPathogenic
Select item 57093	GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1	ARTN, ATP6V0B +253 more	Copy number loss	See cases	GPathogenic
Select item 3062343	GRCh38/hg38 1p34.2(chr1:42278946-43598390)	C1orf210, C1orf50 +91 more	Copy number loss	Epilepsy syndrome	GPathogenic
Select item 2248000	NM_001159936.1(EBNA1BP2):c.5A>G (p.Tyr2Cys)	CFAP57, EBNA1BP2 (Y2C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143562	NM_001378189.1(CFAP57):c.113G>T (p.Cys38Phe)	CFAP57 (C38F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143564	NM_001378189.1(CFAP57):c.155C>T (p.Pro52Leu)	CFAP57 (P52L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672271	NM_001378189.1(CFAP57):c.176G>T (p.Gly59Val)	CFAP57 (G59V)	Single nucleotide variant (missense variant)	Van der Woude syndrome 2	GBenign
Select item 2598023	NM_001378189.1(CFAP57):c.188T>C (p.Leu63Ser)	CFAP57 (L63S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568803	NM_001378189.1(CFAP57):c.199C>A (p.Pro67Thr)	CFAP57 (P67T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239122	NM_001378189.1(CFAP57):c.206G>A (p.Arg69Gln)	CFAP57 (R69Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553340	NM_001378189.1(CFAP57):c.272C>G (p.Ser91Cys)	CFAP57 (S91C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266479	NM_001378189.1(CFAP57):c.283C>T (p.Arg95Trp)	CFAP57 (R95W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601069	NM_001378189.1(CFAP57):c.284G>A (p.Arg95Gln)	CFAP57 (R95Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266480	NM_001378189.1(CFAP57):c.289C>T (p.Arg97Cys)	CFAP57 (R97C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231981	NM_001378189.1(CFAP57):c.305A>G (p.Asn102Ser)	CFAP57 (N102S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051153	NM_001378189.1(CFAP57):c.366A>G (p.Leu122=)	CFAP57	Single nucleotide variant (synonymous variant)	CFAP57-related disorder	GLikely benign
Select item 3024901	NM_001378189.1(CFAP57):c.374A>G (p.Gln125Arg)	CFAP57 (Q125R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3040861	NM_001378189.1(CFAP57):c.375G>C (p.Gln125His)	CFAP57 (Q125H)	Single nucleotide variant (missense variant)	CFAP57-related disorder	GBenign
Select item 2365241	NM_001378189.1(CFAP57):c.382C>T (p.Pro128Ser)	CFAP57 (P128S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479193	NM_001378189.1(CFAP57):c.404A>G (p.Tyr135Cys)	CFAP57 (Y135C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2629427	NM_001378189.1(CFAP57):c.434C>T (p.Ala145Val)	CFAP57 (A145V)	Single nucleotide variant (missense variant)	CFAP57-related disorder	GUncertain significance
Select item 2332666	NM_001378189.1(CFAP57):c.440T>G (p.Val147Gly)	CFAP57 (V147G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143568	NM_001378189.1(CFAP57):c.505G>A (p.Val169Met)	CFAP57 (V169M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484309	NM_001378189.1(CFAP57):c.521A>G (p.Asn174Ser)	CFAP57 (N174S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347155	NM_001378189.1(CFAP57):c.541C>T (p.Arg181Cys)	CFAP57 (R181C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057543	NM_001378189.1(CFAP57):c.557C>G (p.Thr186Ser)	CFAP57 (T186S)	Single nucleotide variant (missense variant)	CFAP57-related disorder	GLikely benign
Select item 3143570	NM_001378189.1(CFAP57):c.589C>T (p.Pro197Ser)	CFAP57 (P197S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143569	NM_001378189.1(CFAP57):c.589C>A (p.Pro197Thr)	CFAP57 (P197T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589336	NM_001378189.1(CFAP57):c.595A>C (p.Asn199His)	CFAP57 (N199H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467123	NM_001378189.1(CFAP57):c.608A>G (p.His203Arg)	CFAP57 (H203R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527104	NM_001378189.1(CFAP57):c.631A>C (p.Ile211Leu)	CFAP57 (I211L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143571	NM_001378189.1(CFAP57):c.650C>G (p.Thr217Arg)	CFAP57 (T217R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592970	NM_001378189.1(CFAP57):c.730A>G (p.Lys244Glu)	CFAP57 (K244E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266482	NM_001378189.1(CFAP57):c.755C>T (p.Ser252Leu)	CFAP57 (S252L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040154	NM_001378189.1(CFAP57):c.777A>G (p.Pro259=)	CFAP57	Single nucleotide variant (synonymous variant)	CFAP57-related disorder	GLikely benign
Select item 3143572	NM_001378189.1(CFAP57):c.810G>C (p.Gln270His)	CFAP57 (Q270H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638739	NM_001378189.1(CFAP57):c.840G>A (p.Met280Ile)	CFAP57 (M280I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3143573	NM_001378189.1(CFAP57):c.844A>G (p.Met282Val)	CFAP57 (M282V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044554	NM_001378189.1(CFAP57):c.863T>C (p.Ile288Thr)	CFAP57 (I288T)	Single nucleotide variant (missense variant)	CFAP57-related disorder	GUncertain significance
Select item 3266484	NM_001378189.1(CFAP57):c.923A>G (p.Glu308Gly)	CFAP57 (E308G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305185	NM_001378189.1(CFAP57):c.949C>T (p.Arg317Cys)	CFAP57 (R317C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037462	NM_001378189.1(CFAP57):c.966C>G (p.Ile322Met)	CFAP57 (I322M)	Single nucleotide variant (missense variant)	CFAP57-related disorder	GLikely benign
Select item 3050191	NM_001378189.1(CFAP57):c.969+10G>A	CFAP57	Single nucleotide variant (intron variant)	CFAP57-related disorder	GLikely benign
Select item 3266483	NM_001378189.1(CFAP57):c.1021G>A (p.Val341Ile)	CFAP57 (V341I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2612005	NM_001378189.1(CFAP57):c.1060G>T (p.Val354Phe)	CFAP57 (V354F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143561	NM_001378189.1(CFAP57):c.1075A>G (p.Lys359Glu)	CFAP57 (K359E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315748	NM_001378189.1(CFAP57):c.1109C>T (p.Thr370Ile)	CFAP57 (T370I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266478	NM_001378189.1(CFAP57):c.1149G>C (p.Leu383Phe)	CFAP57 (L383F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255370	NM_001378189.1(CFAP57):c.1152G>A (p.Met384Ile)	CFAP57 (M384I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052215	NM_001378189.1(CFAP57):c.1176C>T (p.Ile392=)	CFAP57	Single nucleotide variant (synonymous variant)	CFAP57-related disorder	GLikely benign
Select item 3028972	NM_001378189.1(CFAP57):c.1180G>A (p.Gly394Ser)	CFAP57 (G394S)	Single nucleotide variant (missense variant)	CFAP57-related disorder	GUncertain significance
Select item 3266481	NM_001378189.1(CFAP57):c.1281G>C (p.Lys427Asn)	CFAP57 (K427N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266477	NM_001378189.1(CFAP57):c.1378A>G (p.Ile460Val)	CFAP57 (I460V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143563	NM_001378189.1(CFAP57):c.1483C>T (p.His495Tyr)	CFAP57 (H495Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255690	NM_001378189.1(CFAP57):c.1492A>G (p.Thr498Ala)	CFAP57 (T498A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 31150	NM_001378189.1(CFAP57):c.1567G>T (p.Asp523Tyr)	CFAP57, LOC126805719 (D523Y)	Single nucleotide variant (missense variant)	Van der Woude syndrome 2	GUncertain significance
Select item 2610637	NM_001378189.1(CFAP57):c.1588G>T (p.Gly530Cys)	CFAP57, LOC126805719 (G530C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3143565	NM_001378189.1(CFAP57):c.1628C>G (p.Thr543Arg)	CFAP57, LOC126805719 (T543R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143566	NM_001378189.1(CFAP57):c.1669T>C (p.Tyr557His)	CFAP57, LOC126805719 (Y557H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638740	NM_001378189.1(CFAP57):c.1692C>T (p.Pro564=)	CFAP57, LOC126805719	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2546359	NM_001378189.1(CFAP57):c.1693G>A (p.Asp565Asn)	CFAP57, LOC126805719 (D565N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468951	NM_001378189.1(CFAP57):c.1726C>T (p.His576Tyr)	CFAP57, LOC126805719 (H576Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2634935	NM_001378189.1(CFAP57):c.1750T>G (p.Ser584Ala)	CFAP57, LOC126805719 (S584A)	Single nucleotide variant (missense variant)	CFAP57-related disorder	GUncertain significance
Select item 1344738	NM_001378189.1(CFAP57):c.1762C>T (p.Arg588Ter)	CFAP57 (R588*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 3143567	NM_001378189.1(CFAP57):c.1790A>T (p.Tyr597Phe)	CFAP57 (Y597F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350269	NM_001378189.1(CFAP57):c.1820G>A (p.Arg607His)	CFAP57 (R607H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2638741	NM_001378189.1(CFAP57):c.1842G>A (p.Ser614=)	CFAP57	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3053832	NM_001378189.1(CFAP57):c.1855C>T (p.Arg619Cys)	CFAP57 (R619C)	Single nucleotide variant (missense variant)	CFAP57-related disorder	GLikely benign
Select item 3349744	NM_001378189.1(CFAP57):c.1862T>A (p.Met621Lys)	CFAP57 (M621K)	Single nucleotide variant (missense variant)	CFAP57-related disorder	GUncertain significance
Select item 2231069	NM_001378189.1(CFAP57):c.1929+49C>T	CFAP57 (R660C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2628557	NM_001378189.1(CFAP57):c.1929+50G>A	CFAP57 (R660H)	Single nucleotide variant (missense variant +1 more)	CFAP57-related disorder	GUncertain significance
Select item 3039215	NM_001378189.1(CFAP57):c.1929+70A>G	CFAP57 (T667A)	Single nucleotide variant (missense variant +1 more)	CFAP57-related disorder	GLikely benign
Select item 2544821	NM_001378189.1(CFAP57):c.1929+131A>G	CFAP57 (N687S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3050841	NM_001378189.1(CFAP57):c.1941C>T (p.Thr647=)	CFAP57	Single nucleotide variant (synonymous variant)	CFAP57-related disorder	GLikely benign
Select item 3048557	NM_001378189.1(CFAP57):c.1978G>A (p.Gly660Ser)	CFAP57 (G660S)	Single nucleotide variant (missense variant)	CFAP57-related disorder	GBenign
Select item 3060837	NM_001378189.1(CFAP57):c.2548_2549insCCA (p.Val849_Arg850insThr)	CFAP57	Insertion	CFAP57-related disorder	GBenign
Select item 3042387	NM_001378189.1(CFAP57):c.2634T>C (p.Tyr878=)	CFAP57	Single nucleotide variant (synonymous variant)	CFAP57-related disorder	GLikely benign
Select item 3044492	NM_001378189.1(CFAP57):c.2898T>C (p.Asn966=)	CFAP57	Single nucleotide variant (synonymous variant)	CFAP57-related disorder	GLikely benign
Select item 3058381	NM_001378189.1(CFAP57):c.2901A>G (p.Gln967=)	CFAP57	Single nucleotide variant (synonymous variant)	CFAP57-related disorder	GLikely benign
Select item 3351116	NM_001378189.1(CFAP57):c.3010-433A>G	CFAP57 (I1007V)	Single nucleotide variant (missense variant +1 more)	CFAP57-related disorder	GLikely benign
Select item 3353930	NM_001378189.1(CFAP57):c.3010-346C>T	CFAP57 (Q1036*)	Single nucleotide variant (nonsense +1 more)	CFAP57-related disorder	GLikely benign
Select item 3051891	NM_001378189.1(CFAP57):c.3010-8G>A	CFAP57	Single nucleotide variant (intron variant)	CFAP57-related disorder	GLikely benign
Select item 2636302	NM_001378189.1(CFAP57):c.3105G>T (p.Glu1035Asp)	CFAP57 (E1035D +1 more)	Single nucleotide variant (missense variant)	CFAP57-related disorder	GUncertain significance
Select item 3044235	NM_001378189.1(CFAP57):c.3307C>T (p.Arg1103Trp)	CFAP57 (R1103W +1 more)	Single nucleotide variant (missense variant)	CFAP57-related disorder	GBenign
Select item 3037594	NM_001378189.1(CFAP57):c.3318G>A (p.Glu1106=)	CFAP57	Single nucleotide variant (synonymous variant)	CFAP57-related disorder	GLikely benign
Select item 3350425	NM_001378189.1(CFAP57):c.3442C>T (p.Arg1148Cys)	CFAP57 (R1148C +1 more)	Single nucleotide variant (missense variant)	CFAP57-related disorder	GUncertain significance
Select item 2638742	NM_001378189.1(CFAP57):c.3723C>T (p.Ser1241=)	CFAP57	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3247992	NC_000001.10:g.(?_42922237)_(43916151_?)del	C1orf210, C1orf50 +20 more	Deletion	not provided	GPathogenic
Select item 2685798	GRCh37/hg19 1p34.2(chr1:43431433-43787962)x3	C1orf210, CFAP144 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2425602	NC_000001.10:g.(?_43392712)_(43675755_?)dup	CFAP144, CFAP57 +2 more	Duplication	GLUT1 deficiency syndrome 1, autosomal recessive	GUncertain significance
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 1070387	NC_000001.10:g.(?_43392692)_(43870241_?)del	CDC20, CFAP144 +10 more	Deletion	not provided	GPathogenic
Select item 689310	GRCh37/hg19 1p34.2-34.1(chr1:43336799-44713202)x1	ARTN, ATP6V0B +24 more	Copy number loss	not provided	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395212	GRCh37/hg19 1p34.2-34.1(chr1:42914303-45001279)x1	ARTN, ATP6V0B +36 more	Copy number loss	See cases	GPathogenic

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Items: 99