4926[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58164	GRCh38/hg38 11q13.4(chr11:71164008-72309374)x3	ACTE1P, ANAPC15 +67 more	Copy number gain	See cases	GUncertain significance
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 3052529	NM_006185.4(NUMA1):c.6279C>T (p.Thr2093=)	IL18BP, NUMA1	Single nucleotide variant (synonymous variant +1 more)	NUMA1-related condition	GLikely benign
Select item 2456727	NM_006185.4(NUMA1):c.6256C>T (p.Arg2086Cys)	IL18BP, NUMA1 (R2072C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2548794	NM_006185.4(NUMA1):c.6242G>A (p.Arg2081His)	IL18BP, NUMA1 (R2067H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2313597	NM_006185.4(NUMA1):c.6194G>A (p.Arg2065Gln)	IL18BP, NUMA1 (R2065Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2459964	NM_006185.4(NUMA1):c.6130C>T (p.Arg2044Trp)	IL18BP, NUMA1 (R2044W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2390331	NM_006185.4(NUMA1):c.5999C>T (p.Thr2000Ile)	NUMA1, IL18BP (T1986I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2286890	NM_006185.4(NUMA1):c.5966G>A (p.Arg1989Gln)	IL18BP, NUMA1 (R1975Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 784216	NM_006185.4(NUMA1):c.5959C>T (p.Arg1987Cys)	IL18BP, NUMA1 (R1987C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3047738	NM_006185.4(NUMA1):c.5940C>A (p.Gly1980=)	IL18BP, NUMA1	Single nucleotide variant (synonymous variant +1 more)	NUMA1-related condition	GLikely benign
Select item 2374386	NM_006185.4(NUMA1):c.5931G>C (p.Glu1977Asp)	IL18BP, NUMA1 (E1977D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2377178	NM_006185.4(NUMA1):c.5896C>T (p.Arg1966Cys)	IL18BP, NUMA1 (R1952C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2281562	NM_006185.4(NUMA1):c.5813A>G (p.Tyr1938Cys)	IL18BP, NUMA1 (Y1924C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2530409	NM_006185.4(NUMA1):c.5755C>T (p.Arg1919Cys)	IL18BP, NUMA1 (R1905C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2338205	NM_006185.4(NUMA1):c.5728G>A (p.Glu1910Lys)	NUMA1, IL18BP (E1910K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 745147	NM_006185.4(NUMA1):c.5682G>A (p.Gly1894=)	IL18BP, NUMA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2209191	NM_006185.4(NUMA1):c.5664G>C (p.Gln1888His)	IL18BP, NUMA1 (Q1874H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2340565	NM_006185.4(NUMA1):c.5653C>T (p.Arg1885Cys)	NUMA1, IL18BP (R1871C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2238805	NM_006185.4(NUMA1):c.5590G>A (p.Asp1864Asn)	IL18BP, NUMA1 (D1864N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2531221	NM_006185.4(NUMA1):c.5510G>C (p.Ser1837Thr)	IL18BP, NUMA1 (S1823T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 774210	NM_006185.4(NUMA1):c.5506T>C (p.Tyr1836His)	IL18BP, NUMA1 (Y1836H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 785365	NM_006185.4(NUMA1):c.5473G>A (p.Val1825Met)	IL18BP, NUMA1 (V1811M +1 more)	Single nucleotide variant (missense variant +1 more)	NUMA1-related condition +1 more	GBenign
Select item 2356361	NM_006185.4(NUMA1):c.5472T>A (p.Asp1824Glu)	NUMA1, IL18BP (D1824E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597967	NM_006185.4(NUMA1):c.5429G>A (p.Arg1810His)	IL18BP, NUMA1 (R1796H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 764042	NM_006185.4(NUMA1):c.5424T>C (p.Arg1808=)	IL18BP, NUMA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2323377	NM_006185.4(NUMA1):c.5423G>A (p.Arg1808His)	IL18BP, NUMA1 (R1794H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2215713	NM_006185.4(NUMA1):c.5413C>T (p.Arg1805Cys)	IL18BP, NUMA1 (R1791C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2538181	NM_006185.4(NUMA1):c.5404C>G (p.Arg1802Gly)	NUMA1, IL18BP (R1802G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2281413	NM_006185.4(NUMA1):c.5401G>A (p.Gly1801Ser)	IL18BP, NUMA1 (G1787S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 776640	NM_006185.4(NUMA1):c.5400G>A (p.Ser1800=)	IL18BP, NUMA1	Single nucleotide variant (synonymous variant +1 more)	NUMA1-related condition +1 more	GBenign
Select item 3051827	NM_006185.4(NUMA1):c.5385C>T (p.Asp1795=)	IL18BP, NUMA1	Single nucleotide variant (synonymous variant +1 more)	NUMA1-related condition	GLikely benign
Select item 780145	NM_006185.4(NUMA1):c.5383G>A (p.Asp1795Asn)	IL18BP, NUMA1 (D1795N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2595736	NM_006185.4(NUMA1):c.5341C>T (p.Arg1781Trp)	IL18BP, NUMA1 (R1767W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2527297	NM_006185.4(NUMA1):c.5291C>T (p.Pro1764Leu)	IL18BP, NUMA1 (P1750L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 790646	NM_006185.4(NUMA1):c.5285G>A (p.Arg1762His)	IL18BP, NUMA1 (R1748H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2222259	NM_006185.4(NUMA1):c.5227C>T (p.Arg1743Cys)	NUMA1, IL18BP (R1743C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2265306	NM_006185.4(NUMA1):c.5180T>C (p.Leu1727Pro)	NUMA1 (L1713P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2255036	NM_006185.4(NUMA1):c.5165T>C (p.Ile1722Thr)	NUMA1 (I1722T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2461269	NM_006185.4(NUMA1):c.5074C>G (p.Gln1692Glu)	NUMA1 (Q1692E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2289269	NM_006185.4(NUMA1):c.5035C>G (p.Gln1679Glu)	NUMA1 (Q1665E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3057603	NM_006185.4(NUMA1):c.4840-8G>A	NUMA1	Single nucleotide variant (intron variant)	NUMA1-related condition	GLikely benign
Select item 2277150	NM_006185.4(NUMA1):c.4762C>T (p.Arg1588Cys)	NUMA1 (R1574C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3045754	NM_006185.4(NUMA1):c.4740C>T (p.Gly1580=)	NUMA1	Single nucleotide variant (synonymous variant +1 more)	NUMA1-related condition	GLikely benign
Select item 2617294	NM_006185.4(NUMA1):c.4711A>C (p.Lys1571Gln)	NUMA1 (K1557Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2472755	NM_006185.4(NUMA1):c.4540G>A (p.Gly1514Ser)	NUMA1 (G1514S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291646	NM_006185.4(NUMA1):c.4508G>A (p.Arg1503Gln)	NUMA1 (R1503Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 789628	NM_006185.4(NUMA1):c.4329G>A (p.Ala1443=)	NUMA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2551685	NM_006185.4(NUMA1):c.4126G>A (p.Ala1376Thr)	NUMA1 (A1376T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307893	NM_006185.4(NUMA1):c.4073G>A (p.Ser1358Asn)	NUMA1 (S1358N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3057890	NM_006185.4(NUMA1):c.4044C>T (p.Leu1348=)	NUMA1	Single nucleotide variant (synonymous variant)	NUMA1-related condition	GLikely benign
Select item 2479679	NM_006185.4(NUMA1):c.4042C>T (p.Leu1348Phe)	NUMA1 (L1348F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469490	NM_006185.4(NUMA1):c.3955G>A (p.Ala1319Thr)	NUMA1 (A1319T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482763	NM_006185.4(NUMA1):c.3935G>A (p.Arg1312Gln)	NUMA1 (R1312Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3034915	NM_006185.4(NUMA1):c.3927G>A (p.Glu1309=)	NUMA1	Single nucleotide variant (synonymous variant)	NUMA1-related condition	GLikely benign
Select item 2407103	NM_006185.4(NUMA1):c.3893G>A (p.Arg1298Gln)	NUMA1 (R1298Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273068	NM_006185.4(NUMA1):c.3872G>A (p.Arg1291Gln)	NUMA1 (R1291Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276623	NM_006185.4(NUMA1):c.3845G>A (p.Arg1282Lys)	NUMA1 (R1282K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 779209	NM_006185.4(NUMA1):c.3816G>A (p.Leu1272=)	NUMA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3053580	NM_006185.4(NUMA1):c.3789G>A (p.Gln1263=)	NUMA1	Single nucleotide variant (synonymous variant)	NUMA1-related condition	GLikely benign
Select item 726135	NM_006185.4(NUMA1):c.3771C>T (p.Ala1257=)	NUMA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1801783	NM_006185.4(NUMA1):c.3716G>C (p.Arg1239Pro)	NUMA1 (R1239P)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GPathogenic
Select item 2354666	NM_006185.4(NUMA1):c.3604C>A (p.His1202Asn)	NUMA1 (H1202N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554446	NM_006185.4(NUMA1):c.3586C>T (p.Arg1196Cys)	NUMA1 (R1196C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604076	NM_006185.4(NUMA1):c.3469C>T (p.Arg1157Trp)	NUMA1 (R1157W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336416	NM_006185.4(NUMA1):c.3455C>T (p.Ala1152Val)	NUMA1 (A1152V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2642110	NM_006185.4(NUMA1):c.3405A>C (p.Gln1135His)	NUMA1 (Q1135H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2592020	NM_006185.4(NUMA1):c.3376C>T (p.Arg1126Trp)	NUMA1 (R1126W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2642111	NM_006185.4(NUMA1):c.3313T>C (p.Ser1105Pro)	NUMA1 (S1105P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2286633	NM_006185.4(NUMA1):c.3304G>A (p.Ala1102Thr)	NUMA1 (A1102T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210512	NM_006185.4(NUMA1):c.3170C>T (p.Thr1057Met)	NUMA1, LOC100128494 (T1057M)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 715512	NM_006185.4(NUMA1):c.3152C>T (p.Ala1051Val)	LOC100128494, NUMA1 (A1051V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2387560	NM_006185.4(NUMA1):c.3117C>A (p.Asn1039Lys)	NUMA1, LOC100128494 (N1039K)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2642112	NM_006185.4(NUMA1):c.3104A>G (p.Gln1035Arg)	LOC100128494, NUMA1 (Q1035R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2399469	NM_006185.4(NUMA1):c.3097C>T (p.Arg1033Trp)	LOC100128494, NUMA1 (R1033W)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2470435	NM_006185.4(NUMA1):c.2966T>C (p.Met989Thr)	LOC100128494, NUMA1 (M989T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2292191	NM_006185.4(NUMA1):c.2948G>A (p.Arg983Gln)	NUMA1, LOC100128494 (R983Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 790647	NM_006185.4(NUMA1):c.2937T>C (p.Asn979=)	LOC100128494, NUMA1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 3053267	NM_006185.4(NUMA1):c.2932G>A (p.Gly978Ser)	LOC100128494, NUMA1 (G978S)	Single nucleotide variant (non-coding transcript variant +1 more)	NUMA1-related condition	GBenign
Select item 778043	NM_006185.4(NUMA1):c.2915G>A (p.Arg972Gln)	LOC100128494, NUMA1 (R972Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2552641	NM_006185.4(NUMA1):c.2903A>G (p.Gln968Arg)	LOC100128494, NUMA1 (Q968R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2483717	NM_006185.4(NUMA1):c.2791G>C (p.Glu931Gln)	LOC100128494, NUMA1 (E931Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2642113	NM_006185.4(NUMA1):c.2752C>T (p.Arg918Cys)	LOC100128494, NUMA1 (R918C)	Single nucleotide variant (non-coding transcript variant +1 more)	NUMA1-related condition +1 more	GLikely benign
Select item 2536239	NM_006185.4(NUMA1):c.2606G>A (p.Arg869Gln)	LOC100128494, NUMA1 (R869Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3033915	NM_006185.4(NUMA1):c.2484C>T (p.Gly828=)	LOC100128494, NUMA1	Single nucleotide variant (non-coding transcript variant +1 more)	NUMA1-related condition	GLikely benign
Select item 2337717	NM_006185.4(NUMA1):c.2449T>C (p.Tyr817His)	NUMA1, LOC100128494 (Y817H)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2317498	NM_006185.4(NUMA1):c.2435C>G (p.Ala812Gly)	LOC100128494, NUMA1 (A812G)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2642114	NM_006185.4(NUMA1):c.2427A>T (p.Glu809Asp)	LOC100128494, NUMA1 (E809D)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2370709	NM_006185.4(NUMA1):c.2402G>A (p.Ser801Asn)	LOC100128494, NUMA1 (S801N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2271918	NM_006185.4(NUMA1):c.2354T>G (p.Leu785Arg)	NUMA1, LOC100128494 (L785R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2472181	NM_006185.4(NUMA1):c.2343G>T (p.Glu781Asp)	LOC100128494, NUMA1 (E781D)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546899	NM_006185.4(NUMA1):c.2306C>T (p.Ala769Val)	LOC100128494, NUMA1 (A769V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 721427	NM_006185.4(NUMA1):c.2178A>G (p.Ala726=)	LOC100128494, NUMA1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2344129	NM_006185.4(NUMA1):c.2168G>A (p.Arg723His)	LOC100128494, NUMA1 (R723H)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2232000	NM_006185.4(NUMA1):c.2029G>C (p.Glu677Gln)	LOC100128494, NUMA1 (E677Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2409979	NM_006185.4(NUMA1):c.1937C>G (p.Ala646Gly)	LOC100128494, NUMA1 (A646G)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2482635	NM_006185.4(NUMA1):c.1930G>A (p.Glu644Lys)	LOC100128494, NUMA1 (E644K)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2363576	NM_006185.4(NUMA1):c.1927C>T (p.Arg643Trp)	LOC100128494, NUMA1 (R643W)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2359781	NM_006185.4(NUMA1):c.1894G>A (p.Asp632Asn)	NUMA1, LOC100128494 (D632N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance

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