"Ambry Genetics"[submitter] AND "LOC127898559"[gene] - ClinVar

Search results

Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2350026	NM_001164496.2(CFAP44):c.5123G>A (p.Arg1708His)	CFAP44, LOC127898559 (R1708H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2385446	NM_001164496.2(CFAP44):c.4508G>A (p.Gly1503Glu)	CFAP44, LOC127898559 (G106E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2224238	NM_001164496.2(CFAP44):c.4478T>A (p.Ile1493Asn)	CFAP44, LOC127898559 (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, LOC127898559 (M1450V +1 more)	Single nucleotide variant (missense 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 713689	NM_001164496.2(CFAP44):c.3283G>A (p.Glu1095Lys)	CFAP44, LOC127898559 (E1095K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 713690	NM_001164496.2(CFAP44):c.3043G>A (p.Gly1015Ser)	CFAP44, LOC127898559 (G1015S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 713691	NM_001164496.2(CFAP44):c.2883T>A (p.Asn961Lys)	CFAP44, LOC127898559 (N961K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
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 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 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 713692	NM_001164496.2(CFAP44):c.2396G>A (p.Arg799His)	CFAP44, LOC127898559 (R799H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 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 2615176	NM_001164496.2(CFAP44):c.2064A>C (p.Glu688Asp)	LOC127898559, CFAP44 (E688D)	Single nucleotide variant (non-coding transcript variant +1 more)	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 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 729014	NM_001164496.2(CFAP44):c.1768C>G (p.Leu590Val)	CFAP44, LOC127898559 (L590V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 2619525	NM_001164496.2(CFAP44):c.1606G>C (p.Glu536Gln)	CFAP44, LOC127898559 (E536Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 760210	NM_001164496.2(CFAP44):c.1524G>A (p.Met508Ile)	CFAP44, LOC127898559 (M508I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 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 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 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 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 2376661	NM_144718.4(SPICE1):c.2552C>G (p.Ser851Cys)	LOC127898559, SPICE1 (S851C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2306350	NM_144718.4(SPICE1):c.2495C>G (p.Pro832Arg)	LOC127898559, SPICE1 (P832R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2315313	NM_144718.4(SPICE1):c.2444G>C (p.Gly815Ala)	LOC127898559, SPICE1 (G815A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2460088	NM_144718.4(SPICE1):c.2434G>A (p.Gly812Arg)	LOC127898559, SPICE1 (G812R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2459822	NM_144718.4(SPICE1):c.2404G>A (p.Val802Ile)	LOC127898559, SPICE1 (V802I)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2203858	NM_144718.4(SPICE1):c.2293C>T (p.Pro765Ser)	LOC127898559, SPICE1 (P765S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2527535	NM_144718.4(SPICE1):c.2191A>T (p.Ile731Phe)	LOC127898559, SPICE1 (I731F)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2454418	NM_144718.4(SPICE1):c.2144C>G (p.Thr715Ser)	LOC127898559, SPICE1 (T715S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2382639	NM_144718.4(SPICE1):c.2084A>C (p.Glu695Ala)	LOC127898559, SPICE1 (E695A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2606901	NM_144718.4(SPICE1):c.2079A>T (p.Arg693Ser)	LOC127898559, SPICE1 (R693S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2397159	NM_144718.4(SPICE1):c.2035A>T (p.Asn679Tyr)	LOC127898559, SPICE1 (N679Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2212303	NM_144718.4(SPICE1):c.1746G>T (p.Lys582Asn)	LOC127898559, SPICE1 (K582N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2263280	NM_144718.4(SPICE1):c.1705A>G (p.Thr569Ala)	LOC127898559, SPICE1 (T569A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2481734	NM_144718.4(SPICE1):c.1681C>T (p.Arg561Cys)	LOC127898559, SPICE1 (R561C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2462885	NM_144718.4(SPICE1):c.1594C>T (p.Pro532Ser)	LOC127898559, SPICE1 (P532S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2364483	NM_144718.4(SPICE1):c.1438C>T (p.Arg480Cys)	LOC127898559, SPICE1 (R480C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2549283	NM_144718.4(SPICE1):c.1343A>T (p.His448Leu)	LOC127898559, SPICE1 (H448L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2255467	NM_144718.4(SPICE1):c.1343A>C (p.His448Pro)	LOC127898559, SPICE1 (H448P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2408079	NM_144718.4(SPICE1):c.1318G>C (p.Asp440His)	LOC127898559, SPICE1 (D440H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2259704	NM_144718.4(SPICE1):c.1171C>T (p.Arg391Cys)	LOC127898559, SPICE1 (R391C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2489663	NM_144718.4(SPICE1):c.1084A>C (p.Ser362Arg)	LOC127898559, SPICE1 (S362R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2315890	NM_144718.4(SPICE1):c.1001T>G (p.Leu334Arg)	LOC127898559, SPICE1 (L334R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550423	NM_144718.4(SPICE1):c.901C>T (p.Pro301Ser)	LOC127898559, SPICE1 (P301S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2455851	NM_144718.4(SPICE1):c.772G>A (p.Ala258Thr)	LOC127898559, SPICE1 (A258T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2315891	NM_144718.4(SPICE1):c.709C>G (p.Pro237Ala)	SPICE1, LOC127898559 (P237A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2308313	NM_144718.4(SPICE1):c.686C>T (p.Ala229Val)	LOC127898559, SPICE1 (A229V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2212261	NM_144718.4(SPICE1):c.661T>C (p.Trp221Arg)	LOC127898559, SPICE1 (W221R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2493794	NM_144718.4(SPICE1):c.634G>C (p.Glu212Gln)	LOC127898559, SPICE1 (E212Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2455183	NM_144718.4(SPICE1):c.599C>T (p.Thr200Met)	LOC127898559, SPICE1 (T200M)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2341548	NM_144718.4(SPICE1):c.431T>C (p.Ile144Thr)	LOC127898559, SPICE1 (I144T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372763	NM_144718.4(SPICE1):c.347T>C (p.Ile116Thr)	LOC127898559, SPICE1 (I116T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2545849	NM_144718.4(SPICE1):c.329A>C (p.Glu110Ala)	LOC127898559, SPICE1 (E110A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2381247	NM_144718.4(SPICE1):c.181A>G (p.Arg61Gly)	LOC127898559, SPICE1 (R61G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2383512	NM_144718.4(SPICE1):c.56C>G (p.Pro19Arg)	LOC127898559, SPICE1 (P19R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2283881	NM_144718.4(SPICE1):c.56C>T (p.Pro19Leu)	SPICE1, LOC127898559 (P19L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign

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Items: 79