Related gene-specific medical variations for Gene (Select 55779) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3266447	NM_001164496.2(CFAP44):c.1448A>G (p.Tyr483Cys)	CFAP44, LOC127898559 (Y483C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3143496	NM_001164496.2(CFAP44):c.950T>C (p.Phe317Ser)	CFAP44, CFAP44-AS1 +1 more (F317S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3143495	NM_001164496.2(CFAP44):c.604G>A (p.Glu202Lys)	CFAP44, CFAP44-AS1 +1 more (E202K)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3143494	NM_001164496.2(CFAP44):c.571G>A (p.Val191Ile)	CFAP44, CFAP44-AS1 +1 more (V191I)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3143492	NM_001164496.2(CFAP44):c.532C>G (p.Leu178Val)	CFAP44, CFAP44-AS1 +1 more (L178V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3143491	NM_001164496.2(CFAP44):c.443A>G (p.Asn148Ser)	CFAP44, CFAP44-AS1 +1 more (N148S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3143490	NM_001164496.2(CFAP44):c.409C>T (p.His137Tyr)	CFAP44, CFAP44-AS1 +1 more (H137Y)	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 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 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 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 3143484	NM_001164496.2(CFAP44):c.182A>G (p.Glu61Gly)	CFAP44, CFAP44-AS1 +1 more (E61G)	Single nucleotide variant (non-coding transcript variant +1 more)	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 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 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
Select item 3143478	NM_001164496.2(CFAP44):c.1441C>T (p.Leu481Phe)	CFAP44, LOC127898559 (L481F)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3143477	NM_001164496.2(CFAP44):c.1398C>G (p.Phe466Leu)	CFAP44, LOC127898559 (F466L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3143476	NM_001164496.2(CFAP44):c.11C>T (p.Pro4Leu)	CFAP44, CFAP44-AS1 +1 more (P4L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3065141	NM_001164496.2(CFAP44):c.1303G>T (p.Gly435Ter)	CFAP44, LOC127898559 (G435*)	Single nucleotide variant (non-coding transcript variant +1 more)	Spermatogenic failure 20	GLikely pathogenic
Select item 3057286	NM_001164496.2(CFAP44):c.1327-3dup	CFAP44, SPICE1-CFAP44	Duplication (intron variant)	CFAP44-related disorder	GLikely benign
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 3048518	NM_001164496.2(CFAP44):c.1570-5C>T	CFAP44, SPICE1-CFAP44	Single nucleotide variant (intron variant)	CFAP44-related disorder	GLikely benign
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 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 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 3033995	NM_001164496.2(CFAP44):c.5451G>A (p.Ala1817=)	CFAP44, SPICE1-CFAP44	Single nucleotide variant (non-coding transcript variant +1 more)	CFAP44-related disorder	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 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 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 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 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 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 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 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 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 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 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 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 2542765	NM_001164496.2(CFAP44):c.482C>G (p.Ala161Gly)	CFAP44, CFAP44-AS1 +1 more (A161G)	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 2533527	NM_001164496.2(CFAP44):c.320A>G (p.Glu107Gly)	CFAP44, CFAP44-AS1 +1 more (E107G)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2532695	NM_001164496.2(CFAP44):c.1404C>G (p.Phe468Leu)	CFAP44, LOC127898559 (F468L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2526718	NM_001164496.2(CFAP44):c.614G>A (p.Ser205Asn)	CFAP44, CFAP44-AS1 +1 more (S205N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2482942	NM_001164496.2(CFAP44):c.938C>T (p.Ser313Leu)	CFAP44, CFAP44-AS1 +1 more (S313L)	Single nucleotide variant (non-coding transcript variant +1 more)	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 2479349	NM_001164496.2(CFAP44):c.1241T>C (p.Ile414Thr)	CFAP44, LOC127898559 (I414T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2460176	NM_001164496.2(CFAP44):c.655C>T (p.Pro219Ser)	CFAP44, CFAP44-AS1 +1 more (P219S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	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 2401814	NM_001164496.2(CFAP44):c.848A>T (p.Asp283Val)	CFAP44, CFAP44-AS1 +1 more (D283V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2396361	NM_001164496.2(CFAP44):c.16G>C (p.Asp6His)	CFAP44, CFAP44-AS1 +1 more (D6H)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2395670	NM_001164496.2(CFAP44):c.1070T>C (p.Leu357Pro)	CFAP44, LOC127898559 (L357P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390380	NM_001164496.2(CFAP44):c.1171A>G (p.Ile391Val)	CFAP44, LOC127898559 (I391V)	Single nucleotide variant (missense variant)	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 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 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 2351106	NM_001164496.2(CFAP44):c.872C>T (p.Ser291Leu)	CFAP44, CFAP44-AS1 +1 more (S291L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 2301573	NM_001164496.2(CFAP44):c.1484G>A (p.Arg495Gln)	CFAP44, LOC127898559 (R495Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286976	NM_001164496.2(CFAP44):c.1111A>T (p.Asn371Tyr)	CFAP44, LOC127898559 (N371Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2276147	NM_001164496.2(CFAP44):c.598G>A (p.Val200Ile)	CFAP44, CFAP44-AS1 +1 more (V200I)	Single nucleotide variant (missense variant)	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 2246845	NM_001164496.2(CFAP44):c.641A>T (p.Tyr214Phe)	CFAP44, CFAP44-AS1 +1 more (Y214F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225221	NM_001164496.2(CFAP44):c.985A>G (p.Met329Val)	CFAP44, CFAP44-AS1 +1 more (M329V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2217831	NM_001164496.2(CFAP44):c.230A>G (p.Tyr77Cys)	CFAP44, CFAP44-AS1 +1 more (Y77C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2058075	NM_001164496.2(CFAP44):c.259C>T (p.Gln87Ter)	CFAP44, CFAP44-AS1 +1 more (Q87*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2055515	NM_001164496.2(CFAP44):c.535C>T (p.Arg179Ter)	CFAP44, CFAP44-AS1 +1 more (R179*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1695080	NM_001164496.2(CFAP44):c.870A>G (p.Thr290=)	CFAP44, CFAP44-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1339091	NM_001164496.2(CFAP44):c.670C>T (p.Arg224Ter)	CFAP44, CFAP44-AS1 +1 more (R224*)	Single nucleotide variant (nonsense)	Spermatogenic failure 20	GLikely pathogenic
Select item 1267032	NM_001164496.2(CFAP44):c.4759-3C>T	CFAP44, SPICE1-CFAP44	Single nucleotide variant (intron variant)	not provided	GBenign
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 1030243	NM_001164496.2(CFAP44):c.316T>C (p.Ser106Pro)	CFAP44, CFAP44-AS1 +1 more (S106P)	Single nucleotide variant (missense variant)	Spermatogenic failure 20	GUncertain significance
Select item 1013486	NM_001164496.2(CFAP44):c.1170+1G>A	CFAP44, SPICE1-CFAP44	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
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 798932	NM_001164496.2(CFAP44):c.1944A>G (p.Pro648=)	CFAP44, SPICE1-CFAP44	Single nucleotide variant (synonymous variant)	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 795968	NM_001164496.2(CFAP44):c.3507G>T (p.Val1169=)	CFAP44, SPICE1-CFAP44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 790540	NM_001164496.2(CFAP44):c.1457C>T (p.Ala486Val)	CFAP44, SPICE1-CFAP44 (A486V)	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 770705	NM_001164496.2(CFAP44):c.4951C>T (p.Arg1651Trp)	CFAP44, SPICE1-CFAP44 (R1651W)	Single nucleotide variant (missense variant)	not provided	GBenign
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 764018	NM_001164496.2(CFAP44):c.4809T>G (p.Ala1603=)	CFAP44, SPICE1-CFAP44	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 760246	NM_001164496.2(CFAP44):c.1375-8A>G	CFAP44, SPICE1-CFAP44	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 759663	NM_001164496.2(CFAP44):c.5553C>T (p.Pro1851=)	CFAP44, SPICE1-CFAP44	Single nucleotide variant (synonymous 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 755562	NM_001164496.2(CFAP44):c.3801G>A (p.Lys1267=)	CFAP44, SPICE1-CFAP44	Single nucleotide variant (synonymous variant)	not provided	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 750702	NM_001164496.2(CFAP44):c.1125G>A (p.Leu375=)	CFAP44, SPICE1-CFAP44	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 748911	NM_001164496.2(CFAP44):c.1570-7del	CFAP44, SPICE1-CFAP44	Deletion (intron variant)	not provided	GLikely benign

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