LOC127898559[gene] - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 523153	NM_001164496.2(CFAP44):c.3175C>T (p.Arg1059Ter)	CFAP44, LOC127898559 (R1059*)	Single nucleotide variant (nonsense)	Spermatogenic failure 20	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 3169100	NM_144718.4(SPICE1):c.2554A>T (p.Thr852Ser)	LOC127898559, SPICE1 (T852S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3169098	NM_144718.4(SPICE1):c.2495C>T (p.Pro832Leu)	LOC127898559, SPICE1 (P832L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3322223	NM_144718.4(SPICE1):c.2401C>T (p.Pro801Ser)	LOC127898559, SPICE1 (P801S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3322225	NM_144718.4(SPICE1):c.2308C>G (p.Leu770Val)	LOC127898559, SPICE1 (L770V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3322227	NM_144718.4(SPICE1):c.2306C>T (p.Pro769Leu)	LOC127898559, SPICE1 (P769L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3322217	NM_144718.4(SPICE1):c.2249A>C (p.Glu750Ala)	LOC127898559, SPICE1 (E750A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3169097	NM_144718.4(SPICE1):c.2102G>A (p.Arg701Gln)	LOC127898559, SPICE1 (R701Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3169096	NM_144718.4(SPICE1):c.2023T>A (p.Leu675Met)	LOC127898559, SPICE1 (L675M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3322224	NM_144718.4(SPICE1):c.1874C>T (p.Ser625Leu)	LOC127898559, SPICE1 (S625L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3169095	NM_144718.4(SPICE1):c.1724A>G (p.Lys575Arg)	LOC127898559, SPICE1 (K575R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3322218	NM_144718.4(SPICE1):c.1684C>T (p.Pro562Ser)	LOC127898559, SPICE1 (P562S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3169094	NM_144718.4(SPICE1):c.1607T>C (p.Leu536Ser)	LOC127898559, SPICE1 (L536S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3322221	NM_144718.4(SPICE1):c.1463C>T (p.Ser488Leu)	LOC127898559, SPICE1 (S488L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3169092	NM_144718.4(SPICE1):c.1264A>G (p.Arg422Gly)	LOC127898559, SPICE1 (R422G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3322220	NM_144718.4(SPICE1):c.1259G>A (p.Arg420His)	LOC127898559, SPICE1 (R420H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3169091	NM_144718.4(SPICE1):c.1232T>C (p.Ile411Thr)	LOC127898559, SPICE1 (I411T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3169090	NM_144718.4(SPICE1):c.1174A>G (p.Lys392Glu)	LOC127898559, SPICE1 (K392E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3322222	NM_144718.4(SPICE1):c.1172G>A (p.Arg391His)	LOC127898559, SPICE1 (R391H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3169089	NM_144718.4(SPICE1):c.1156A>C (p.Ser386Arg)	LOC127898559, SPICE1 (S386R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3322226	NM_144718.4(SPICE1):c.937A>G (p.Ile313Val)	LOC127898559, SPICE1 (I313V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3169104	NM_144718.4(SPICE1):c.926C>T (p.Pro309Leu)	LOC127898559, SPICE1 (P309L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3169103	NM_144718.4(SPICE1):c.718C>T (p.Pro240Ser)	LOC127898559, SPICE1 (P240S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3322219	NM_144718.4(SPICE1):c.289G>A (p.Glu97Lys)	LOC127898559, SPICE1 (E97K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3169101	NM_144718.4(SPICE1):c.25T>A (p.Cys9Ser)	LOC127898559, SPICE1 (C9S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance

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Items: 85