ClinVar for Gene (Select 55698) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3312535	NM_018059.5(RADIL):c.1715A>T (p.Tyr572Phe)	RADIL (Y572F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312534	NM_018059.5(RADIL):c.1702C>A (p.Gln568Lys)	RADIL (Q568K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312533	NM_018059.5(RADIL):c.1700T>C (p.Phe567Ser)	RADIL (F567S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312532	NM_018059.5(RADIL):c.1542C>T (p.Ile514=)	RADIL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3312531	NM_018059.5(RADIL):c.271G>A (p.Glu91Lys)	RADIL (E91K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312530	NM_018059.5(RADIL):c.2725C>T (p.Pro909Ser)	RADIL (P909S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312529	NM_018059.5(RADIL):c.1465A>G (p.Ile489Val)	RADIL (I489V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312527	NM_018059.5(RADIL):c.2497G>A (p.Glu833Lys)	RADIL (E833K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312526	NM_018059.5(RADIL):c.1139G>A (p.Arg380Gln)	RADIL (R380Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312525	NM_018059.5(RADIL):c.395G>A (p.Arg132Gln)	RADIL (R132Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312524	NM_018059.5(RADIL):c.1403G>A (p.Arg468His)	RADIL (R468H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312523	NM_018059.5(RADIL):c.2540C>T (p.Pro847Leu)	RADIL (P847L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312522	NM_018059.5(RADIL):c.2045G>A (p.Arg682Gln)	RADIL (R682Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304236	NM_020144.5(PAPOLB):c.851A>G (p.Asn284Ser)	PAPOLB, RADIL (N284S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304235	NM_020144.5(PAPOLB):c.6G>A (p.Met2Ile)	PAPOLB, RADIL (M2I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3245749	NC_000007.13:g.(?_4815347)_(5792630_?)del	ACTB, AP5Z1 +11 more	Deletion	Baraitser-Winter syndrome 1	GUncertain significance
Select item 3208441	NM_020144.5(PAPOLB):c.946A>G (p.Ile316Val)	PAPOLB, RADIL (I316V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208439	NM_020144.5(PAPOLB):c.625G>A (p.Asp209Asn)	PAPOLB, RADIL (D209N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208438	NM_020144.5(PAPOLB):c.616C>T (p.Arg206Trp)	PAPOLB, RADIL (R206W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208436	NM_020144.5(PAPOLB):c.307T>A (p.Ser103Thr)	PAPOLB, RADIL (S103T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208434	NM_020144.5(PAPOLB):c.1774G>A (p.Glu592Lys)	PAPOLB, RADIL (E592K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208433	NM_020144.5(PAPOLB):c.1663A>G (p.Arg555Gly)	PAPOLB, RADIL (R555G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208431	NM_020144.5(PAPOLB):c.146C>A (p.Pro49His)	PAPOLB, RADIL (P49H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208430	NM_020144.5(PAPOLB):c.123G>T (p.Gln41His)	PAPOLB, RADIL (Q41H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208429	NM_020144.5(PAPOLB):c.1085T>G (p.Leu362Arg)	PAPOLB, RADIL (L362R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3151157	NM_018059.5(RADIL):c.970C>A (p.His324Asn)	RADIL (H324N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151156	NM_018059.5(RADIL):c.956C>T (p.Pro319Leu)	RADIL (P319L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151155	NM_018059.5(RADIL):c.904C>T (p.Arg302Trp)	RADIL (R302W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151154	NM_018059.5(RADIL):c.688G>T (p.Ala230Ser)	RADIL (A230S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151153	NM_018059.5(RADIL):c.620C>A (p.Pro207His)	RADIL (P207H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151152	NM_018059.5(RADIL):c.474G>T (p.Glu158Asp)	RADIL (E158D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151151	NM_018059.5(RADIL):c.429C>G (p.Ile143Met)	RADIL (I143M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151150	NM_018059.5(RADIL):c.3190A>G (p.Thr1064Ala)	RADIL (T1064A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151149	NM_018059.5(RADIL):c.3008T>C (p.Leu1003Pro)	RADIL (L1003P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151148	NM_018059.5(RADIL):c.2998G>A (p.Ala1000Thr)	RADIL (A1000T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3151147	NM_018059.5(RADIL):c.2900G>T (p.Ser967Ile)	RADIL (S967I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151146	NM_018059.5(RADIL):c.2798G>C (p.Arg933Thr)	RADIL (R933T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151145	NM_018059.5(RADIL):c.2485C>G (p.Pro829Ala)	RADIL (P829A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151144	NM_018059.5(RADIL):c.2449G>A (p.Gly817Ser)	RADIL (G817S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151143	NM_018059.5(RADIL):c.2411G>A (p.Arg804His)	RADIL (R804H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151142	NM_018059.5(RADIL):c.23T>G (p.Ile8Ser)	RADIL (I8S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151141	NM_018059.5(RADIL):c.2356G>A (p.Asp786Asn)	RADIL (D786N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151140	NM_018059.5(RADIL):c.2197C>G (p.Arg733Gly)	RADIL (R733G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151139	NM_018059.5(RADIL):c.2152G>A (p.Ala718Thr)	RADIL (A718T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3151138	NM_018059.5(RADIL):c.2014G>A (p.Ala672Thr)	RADIL (A672T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151137	NM_018059.5(RADIL):c.2006A>G (p.Gln669Arg)	RADIL (Q669R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151135	NM_018059.5(RADIL):c.1832G>A (p.Arg611His)	RADIL (R611H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151134	NM_018059.5(RADIL):c.1802C>T (p.Ser601Leu)	RADIL (S601L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151133	NM_018059.5(RADIL):c.1757T>C (p.Leu586Pro)	RADIL (L586P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151132	NM_018059.5(RADIL):c.1670C>T (p.Ala557Val)	RADIL (A557V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151130	NM_018059.5(RADIL):c.1204C>T (p.Arg402Cys)	RADIL (R402C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151129	NM_018059.5(RADIL):c.1175C>T (p.Ala392Val)	RADIL (A392V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151128	NM_018059.5(RADIL):c.1117C>T (p.Arg373Trp)	RADIL (R373W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151127	NM_018059.5(RADIL):c.1051T>C (p.Tyr351His)	RADIL (Y351H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684479	GRCh37/hg19 7p22.1(chr7:4909470-5331753)x3	MMD2, RADIL +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684470	GRCh37/hg19 7p22.3-22.1(chr7:43361-5965440)x3	RNF216, SDK1 +48 more	Copy number gain	not provided	GPathogenic
Select item 2684469	GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3	PSMG3, RAC1 +73 more	Copy number gain	not provided	GPathogenic
Select item 2657265	NM_018059.5(RADIL):c.345G>C (p.Val115=)	RADIL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657264	NM_020144.5(PAPOLB):c.300G>C (p.Thr100=)	PAPOLB, RADIL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2657263	NM_018059.5(RADIL):c.709G>C (p.Gly237Arg)	RADIL (G237R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2657262	NM_018059.5(RADIL):c.897C>T (p.Thr299=)	RADIL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657261	NM_018059.5(RADIL):c.2605C>G (p.Leu869Val)	RADIL (L869V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2657260	NM_018059.5(RADIL):c.2743G>T (p.Gly915Trp)	RADIL (G915W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2620053	NM_018059.5(RADIL):c.2905G>A (p.Glu969Lys)	RADIL (E969K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617017	NM_020144.5(PAPOLB):c.603C>G (p.Ser201Arg)	PAPOLB, RADIL (S201R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602731	NM_018059.5(RADIL):c.1834G>A (p.Val612Met)	RADIL (V612M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601613	NM_020144.5(PAPOLB):c.272T>C (p.Ile91Thr)	PAPOLB, RADIL (I91T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598539	NM_018059.5(RADIL):c.2371T>C (p.Cys791Arg)	RADIL (C791R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595752	NM_020144.5(PAPOLB):c.595A>G (p.Ile199Val)	PAPOLB, RADIL (I199V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595081	NM_020144.5(PAPOLB):c.8C>T (p.Pro3Leu)	PAPOLB, RADIL (P3L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594283	NM_020144.5(PAPOLB):c.337G>A (p.Ala113Thr)	PAPOLB, RADIL (A113T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589918	NM_018059.5(RADIL):c.493G>A (p.Val165Met)	RADIL (V165M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589670	NM_020144.5(PAPOLB):c.686A>G (p.Lys229Arg)	PAPOLB, RADIL (K229R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589558	NM_020144.5(PAPOLB):c.886C>A (p.Leu296Ile)	PAPOLB, RADIL (L296I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589399	NM_018059.5(RADIL):c.2947C>T (p.Pro983Ser)	RADIL (P983S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588839	NM_018059.5(RADIL):c.2410C>T (p.Arg804Cys)	RADIL (R804C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588263	NM_018059.5(RADIL):c.2018G>A (p.Arg673His)	RADIL (R673H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569011	NM_018059.5(RADIL):c.725G>A (p.Arg242Gln)	RADIL (R242Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559696	NM_020144.5(PAPOLB):c.434A>G (p.Lys145Arg)	PAPOLB, RADIL (K145R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556398	NM_020144.5(PAPOLB):c.929G>A (p.Arg310Lys)	PAPOLB, RADIL (R310K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548641	NM_020144.5(PAPOLB):c.1000A>G (p.Thr334Ala)	PAPOLB, RADIL (T334A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546431	NM_018059.5(RADIL):c.2996G>A (p.Gly999Asp)	RADIL (G999D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537653	NM_018059.5(RADIL):c.4T>C (p.Phe2Leu)	RADIL (F2L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530373	NM_020144.5(PAPOLB):c.868G>C (p.Glu290Gln)	PAPOLB, RADIL (E290Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529395	NM_020144.5(PAPOLB):c.1309A>T (p.Met437Leu)	PAPOLB, RADIL (M437L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527906	NM_018059.5(RADIL):c.682G>A (p.Ala228Thr)	RADIL (A228T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527528	NM_018059.5(RADIL):c.319G>C (p.Ala107Pro)	RADIL (A107P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526379	NM_020144.5(PAPOLB):c.1562A>G (p.Asp521Gly)	PAPOLB, RADIL (D521G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525766	NM_018059.5(RADIL):c.2642C>A (p.Pro881His)	RADIL (P881H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524767	NM_020144.5(PAPOLB):c.1292T>C (p.Met431Thr)	PAPOLB, RADIL (M431T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515182	NM_018059.5(RADIL):c.2582G>A (p.Arg861Gln)	RADIL (R861Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514677	NM_018059.5(RADIL):c.1778C>G (p.Thr593Arg)	RADIL (T593R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514447	NM_020144.5(PAPOLB):c.79A>G (p.Ile27Val)	PAPOLB, RADIL (I27V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513374	NM_018059.5(RADIL):c.571C>T (p.Arg191Cys)	RADIL (R191C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510650	NM_020144.5(PAPOLB):c.7C>T (p.Pro3Ser)	PAPOLB, RADIL (P3S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489391	NM_020144.5(PAPOLB):c.1597A>C (p.Ser533Arg)	PAPOLB, RADIL (S533R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488364	NM_018059.5(RADIL):c.2983C>A (p.His995Asn)	RADIL (H995N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483100	NM_018059.5(RADIL):c.2681C>T (p.Pro894Leu)	RADIL (P894L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477031	NM_018059.5(RADIL):c.1063T>C (p.Phe355Leu)	RADIL (F355L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476336	NM_018059.5(RADIL):c.1886A>T (p.His629Leu)	RADIL (H629L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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