22226[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 148450	GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3	ACTB, ADAP1 +439 more	Copy number gain	See cases	GPathogenic
Select item 59675	GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3	BRAT1, ACTB +381 more	Copy number gain	See cases	GPathogenic
Select item 58492	GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1	ACTB, ADAP1 +357 more	Copy number loss	See cases	GPathogenic
Select item 147563	GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3	ACTB, ADAP1 +418 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC123956263, LOC123956264 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 57293	GRCh38/hg38 7p22.2-22.1(chr7:4469558-5111872)x3	AP5Z1, FOXK1 +33 more	Copy number gain	See cases	GUncertain significance
Select item 2464189	NM_018059.5(RADIL):c.3220C>T (p.Pro1074Ser)	RADIL (P1074S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463533	NM_018059.5(RADIL):c.3218C>T (p.Pro1073Leu)	RADIL (P1073L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387139	NM_018059.5(RADIL):c.3217C>T (p.Pro1073Ser)	RADIL (P1073S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346247	NM_018059.5(RADIL):c.3212G>A (p.Arg1071His)	RADIL (R1071H)	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 2471272	NM_018059.5(RADIL):c.3160C>T (p.Arg1054Trp)	RADIL (R1054W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383195	NM_018059.5(RADIL):c.3145G>A (p.Gly1049Ser)	RADIL (G1049S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241942	NM_018059.5(RADIL):c.3107G>A (p.Gly1036Asp)	RADIL (G1036D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776199	NM_018059.5(RADIL):c.3072C>T (p.Asp1024=)	RADIL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2457651	NM_018059.5(RADIL):c.3056G>A (p.Arg1019His)	RADIL (R1019H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232278	NM_018059.5(RADIL):c.3043G>A (p.Ala1015Thr)	RADIL (A1015T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215857	NM_018059.5(RADIL):c.3038C>T (p.Pro1013Leu)	RADIL (P1013L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334572	NM_018059.5(RADIL):c.3018G>C (p.Gln1006His)	RADIL (Q1006H)	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 2546431	NM_018059.5(RADIL):c.2996G>A (p.Gly999Asp)	RADIL (G999D)	Single nucleotide variant (missense variant)	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 2589399	NM_018059.5(RADIL):c.2947C>T (p.Pro983Ser)	RADIL (P983S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3151147	NM_018059.5(RADIL):c.2900G>T (p.Ser967Ile)	RADIL (S967I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219643	NM_018059.5(RADIL):c.2896T>G (p.Ser966Ala)	RADIL (S966A)	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 2657260	NM_018059.5(RADIL):c.2743G>T (p.Gly915Trp)	RADIL (G915W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2465948	NM_018059.5(RADIL):c.2711C>T (p.Thr904Met)	RADIL (T904M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377408	NM_018059.5(RADIL):c.2684C>T (p.Pro895Leu)	RADIL (P895L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2372791	NM_018059.5(RADIL):c.2660G>A (p.Arg887His)	RADIL (R887H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296901	NM_018059.5(RADIL):c.2659C>T (p.Arg887Cys)	RADIL (R887C)	Single nucleotide variant (missense variant)	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 2470944	NM_018059.5(RADIL):c.2641C>A (p.Pro881Thr)	RADIL (P881T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2231711	NM_018059.5(RADIL):c.2600G>A (p.Arg867His)	RADIL (R867H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2370815	NM_018059.5(RADIL):c.2596G>C (p.Glu866Gln)	RADIL (E866Q)	Single nucleotide variant (missense variant)	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 3312523	NM_018059.5(RADIL):c.2540C>T (p.Pro847Leu)	RADIL (P847L)	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 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 2231505	NM_018059.5(RADIL):c.2432G>A (p.Arg811Gln)	RADIL (R811Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393461	NM_018059.5(RADIL):c.2431C>T (p.Arg811Trp)	RADIL (R811W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317017	NM_018059.5(RADIL):c.2413C>T (p.His805Tyr)	RADIL (H805Y)	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 2588839	NM_018059.5(RADIL):c.2410C>T (p.Arg804Cys)	RADIL (R804C)	Single nucleotide variant (missense variant)	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 3151141	NM_018059.5(RADIL):c.2356G>A (p.Asp786Asn)	RADIL (D786N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251503	NM_018059.5(RADIL):c.2267A>G (p.Asp756Gly)	RADIL (D756G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325554	NM_018059.5(RADIL):c.2225C>T (p.Ser742Leu)	RADIL (S742L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407438	NM_018059.5(RADIL):c.2216A>G (p.Gln739Arg)	RADIL (Q739R)	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 2324582	NM_018059.5(RADIL):c.2158C>T (p.Arg720Trp)	RADIL (R720W)	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 738850	NM_018059.5(RADIL):c.2100C>T (p.Thr700=)	RADIL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2400422	NM_018059.5(RADIL):c.2053G>A (p.Gly685Ser)	RADIL (G685S)	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 2588263	NM_018059.5(RADIL):c.2018G>A (p.Arg673His)	RADIL (R673H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 776200	NM_018059.5(RADIL):c.2013C>T (p.Cys671=)	RADIL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2208777	NM_018059.5(RADIL):c.1937C>T (p.Thr646Ile)	RADIL (T646I)	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
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 3151135	NM_018059.5(RADIL):c.1832G>A (p.Arg611His)	RADIL (R611H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395032	NM_018059.5(RADIL):c.1831C>T (p.Arg611Cys)	RADIL (R611C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381083	NM_018059.5(RADIL):c.1804G>A (p.Ala602Thr)	RADIL (A602T)	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 2514677	NM_018059.5(RADIL):c.1778C>G (p.Thr593Arg)	RADIL (T593R)	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 782487	NM_018059.5(RADIL):c.1749G>A (p.Pro583=)	RADIL	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3151132	NM_018059.5(RADIL):c.1670C>T (p.Ala557Val)	RADIL (A557V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376370	NM_018059.5(RADIL):c.1649C>T (p.Thr550Met)	RADIL (T550M)	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 3312529	NM_018059.5(RADIL):c.1465A>G (p.Ile489Val)	RADIL (I489V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213872	NM_018059.5(RADIL):c.1448C>T (p.Ala483Val)	RADIL (A483V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405519	NM_018059.5(RADIL):c.1441A>G (p.Lys481Glu)	RADIL (K481E)	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 2339653	NM_018059.5(RADIL):c.1335G>T (p.Gln445His)	RADIL (Q445H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332480	NM_018059.5(RADIL):c.1217T>C (p.Leu406Pro)	RADIL (L406P)	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 3312526	NM_018059.5(RADIL):c.1139G>A (p.Arg380Gln)	RADIL (R380Q)	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 2477031	NM_018059.5(RADIL):c.1063T>C (p.Phe355Leu)	RADIL (F355L)	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 2328378	NM_018059.5(RADIL):c.979G>A (p.Val327Ile)	RADIL (V327I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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