ClinVar for Gene (Select 4926) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3202916	NM_006185.4(NUMA1):c.726G>T (p.Lys242Asn)	LOC100128494, LOC126861257 +1 more (K242N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202915	NM_006185.4(NUMA1):c.6131G>A (p.Arg2044Gln)	IL18BP, NUMA1 (R2044Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202913	NM_006185.4(NUMA1):c.5480A>T (p.Glu1827Val)	IL18BP, NUMA1 (E1813V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202912	NM_006185.4(NUMA1):c.5425C>T (p.Arg1809Trp)	IL18BP, NUMA1 (R1809W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202910	NM_006185.4(NUMA1):c.5422C>T (p.Arg1808Cys)	IL18BP, NUMA1 (R1794C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202909	NM_006185.4(NUMA1):c.5368C>G (p.Leu1790Val)	IL18BP, NUMA1 (L1790V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202908	NM_006185.4(NUMA1):c.5353C>T (p.Pro1785Ser)	IL18BP, NUMA1 (P1771S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202907	NM_006185.4(NUMA1):c.5284C>T (p.Arg1762Cys)	IL18BP, NUMA1 (R1748C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202905	NM_006185.4(NUMA1):c.4763G>A (p.Arg1588His)	NUMA1 (R1588H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202904	NM_006185.4(NUMA1):c.4426T>C (p.Tyr1476His)	NUMA1 (Y1476H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202903	NM_006185.4(NUMA1):c.4194G>T (p.Glu1398Asp)	NUMA1 (E1398D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202902	NM_006185.4(NUMA1):c.4060C>G (p.Gln1354Glu)	NUMA1 (Q1354E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202901	NM_006185.4(NUMA1):c.3992C>T (p.Ala1331Val)	NUMA1 (A1331V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202899	NM_006185.4(NUMA1):c.3923C>T (p.Ser1308Leu)	NUMA1 (S1308L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202898	NM_006185.4(NUMA1):c.3650G>A (p.Arg1217Gln)	NUMA1 (R1217Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3202896	NM_006185.4(NUMA1):c.3268C>A (p.Leu1090Met)	NUMA1 (L1090M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202895	NM_006185.4(NUMA1):c.3223G>T (p.Ala1075Ser)	NUMA1 (A1075S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202894	NM_006185.4(NUMA1):c.310T>C (p.Tyr104His)	NUMA1 (Y104H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202893	NM_006185.4(NUMA1):c.3098G>A (p.Arg1033Gln)	LOC100128494, NUMA1 (R1033Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3202892	NM_006185.4(NUMA1):c.2848G>A (p.Glu950Lys)	LOC100128494, NUMA1 (E950K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3202891	NM_006185.4(NUMA1):c.2641C>A (p.Leu881Met)	LOC100128494, NUMA1 (L881M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3202890	NM_006185.4(NUMA1):c.2332C>T (p.His778Tyr)	LOC100128494, NUMA1 (H778Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3202889	NM_006185.4(NUMA1):c.2254C>G (p.Arg752Gly)	LOC100128494, NUMA1 (R752G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3202888	NM_006185.4(NUMA1):c.2041C>T (p.Arg681Trp)	LOC100128494, NUMA1 (R681W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3202887	NM_006185.4(NUMA1):c.1898G>A (p.Ser633Asn)	LOC100128494, NUMA1 (S633N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3202885	NM_006185.4(NUMA1):c.1633G>C (p.Ala545Pro)	LOC100128494, NUMA1 (A545P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3202884	NM_006185.4(NUMA1):c.1622A>G (p.Gln541Arg)	LOC100128494, NUMA1 (Q541R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3202883	NM_006185.4(NUMA1):c.1153G>C (p.Gly385Arg)	LOC100128494, NUMA1 (G385R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3202881	NM_006185.4(NUMA1):c.1019C>T (p.Ala340Val)	LOC100128494, NUMA1 (A340V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3057890	NM_006185.4(NUMA1):c.4044C>T (p.Leu1348=)	NUMA1	Single nucleotide variant (synonymous variant)	NUMA1-related disorder	GLikely benign
Select item 3057603	NM_006185.4(NUMA1):c.4840-8G>A	NUMA1	Single nucleotide variant (intron variant)	NUMA1-related disorder	GLikely benign
Select item 3057307	NM_006185.4(NUMA1):c.1743T>C (p.His581=)	LOC100128494, NUMA1	Single nucleotide variant (non-coding transcript variant +1 more)	NUMA1-related disorder	GLikely benign
Select item 3053580	NM_006185.4(NUMA1):c.3789G>A (p.Gln1263=)	NUMA1	Single nucleotide variant (synonymous variant)	NUMA1-related disorder	GLikely 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 disorder	GBenign
Select item 3052529	NM_006185.4(NUMA1):c.6279C>T (p.Thr2093=)	IL18BP, NUMA1	Single nucleotide variant (synonymous variant +1 more)	NUMA1-related disorder	GLikely benign
Select item 3052407	NM_006185.4(NUMA1):c.1396A>C (p.Ser466Arg)	LOC100128494, NUMA1 (S466R)	Single nucleotide variant (non-coding transcript variant +1 more)	NUMA1-related disorder	GLikely benign
Select item 3051827	NM_006185.4(NUMA1):c.5385C>T (p.Asp1795=)	IL18BP, NUMA1	Single nucleotide variant (synonymous variant +1 more)	NUMA1-related disorder	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 disorder	GLikely benign
Select item 3045754	NM_006185.4(NUMA1):c.4740C>T (p.Gly1580=)	NUMA1	Single nucleotide variant (synonymous variant +1 more)	NUMA1-related disorder	GLikely benign
Select item 3044820	NM_006185.4(NUMA1):c.1030C>G (p.Leu344Val)	LOC100128494, NUMA1 (L344V)	Single nucleotide variant (non-coding transcript variant +1 more)	NUMA1-related disorder	GLikely benign
Select item 3034915	NM_006185.4(NUMA1):c.3927G>A (p.Glu1309=)	NUMA1	Single nucleotide variant (synonymous variant)	NUMA1-related disorder	GLikely benign
Select item 3034446	NM_006185.4(NUMA1):c.417C>T (p.Asp139=)	NUMA1	Single nucleotide variant (synonymous variant +1 more)	NUMA1-related disorder	GLikely benign
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 disorder	GLikely benign
Select item 3031246	NM_006185.4(NUMA1):c.18C>T (p.Thr6=)	NUMA1	Single nucleotide variant (synonymous variant +1 more)	NUMA1-related disorder	GLikely benign
Select item 3026150	NM_006185.4(NUMA1):c.1505C>G (p.Ser502Cys)	LOC100128494, NUMA1 (S502C)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2642115	NM_006185.4(NUMA1):c.1033A>T (p.Thr345Ser)	LOC100128494, NUMA1 (T345S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
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 2642113	NM_006185.4(NUMA1):c.2752C>T (p.Arg918Cys)	LOC100128494, NUMA1 (R918C)	Single nucleotide variant (non-coding transcript variant +1 more)	NUMA1-related disorder +1 more	GLikely benign
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 2642111	NM_006185.4(NUMA1):c.3313T>C (p.Ser1105Pro)	NUMA1 (S1105P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2642110	NM_006185.4(NUMA1):c.3405A>C (p.Gln1135His)	NUMA1 (Q1135H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2631140	NM_006185.4(NUMA1):c.752T>C (p.Ile251Thr)	LOC100128494, LOC126861257 +1 more (I251T)	Single nucleotide variant (missense variant +1 more)	NUMA1-related disorder	GUncertain significance
Select item 2617294	NM_006185.4(NUMA1):c.4711A>C (p.Lys1571Gln)	NUMA1 (K1557Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604076	NM_006185.4(NUMA1):c.3469C>T (p.Arg1157Trp)	NUMA1 (R1157W)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2595736	NM_006185.4(NUMA1):c.5341C>T (p.Arg1781Trp)	IL18BP, NUMA1 (R1767W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594817	NM_006185.4(NUMA1):c.539G>A (p.Arg180His)	LOC100128494, NUMA1 (R180H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592020	NM_006185.4(NUMA1):c.3376C>T (p.Arg1126Trp)	NUMA1 (R1126W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554446	NM_006185.4(NUMA1):c.3586C>T (p.Arg1196Cys)	NUMA1 (R1196C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552641	NM_006185.4(NUMA1):c.2903A>G (p.Gln968Arg)	LOC100128494, NUMA1 (Q968R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2551685	NM_006185.4(NUMA1):c.4126G>A (p.Ala1376Thr)	NUMA1 (A1376T)	Single nucleotide variant (missense variant)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2538181	NM_006185.4(NUMA1):c.5404C>G (p.Arg1802Gly)	IL18BP, NUMA1 (R1802G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536239	NM_006185.4(NUMA1):c.2606G>A (p.Arg869Gln)	LOC100128494, NUMA1 (R869Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2529097	NM_006185.4(NUMA1):c.1781C>T (p.Ala594Val)	LOC100128494, NUMA1 (A594V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 2511258	NM_006185.4(NUMA1):c.1891C>T (p.Arg631Trp)	LOC100128494, NUMA1 (R631W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 2482763	NM_006185.4(NUMA1):c.3935G>A (p.Arg1312Gln)	NUMA1 (R1312Q)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2479679	NM_006185.4(NUMA1):c.4042C>T (p.Leu1348Phe)	NUMA1 (L1348F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473173	NM_006185.4(NUMA1):c.1483C>T (p.Arg495Trp)	LOC100128494, NUMA1 (R495W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2472755	NM_006185.4(NUMA1):c.4540G>A (p.Gly1514Ser)	NUMA1 (G1514S)	Single nucleotide variant (missense variant)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2469490	NM_006185.4(NUMA1):c.3955G>A (p.Ala1319Thr)	NUMA1 (A1319T)	Single nucleotide variant (missense variant)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2456727	NM_006185.4(NUMA1):c.6256C>T (p.Arg2086Cys)	IL18BP, NUMA1 (R2072C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2426953	NC_000011.9:g.(?_71146421)_(75283128_?)dup	ANAPC15, ARAP1 +63 more	Duplication	3-methylglutaconic aciduria, type VIIB	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)	not specified	GUncertain significance
Select item 2407103	NM_006185.4(NUMA1):c.3893G>A (p.Arg1298Gln)	NUMA1 (R1298Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405018	NM_006185.4(NUMA1):c.167C>T (p.Pro56Leu)	NUMA1 (P56L)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 2398598	NM_006185.4(NUMA1):c.897C>G (p.Cys299Trp)	LOC100128494, LOC126861257 +1 more (C299W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2390331	NM_006185.4(NUMA1):c.5999C>T (p.Thr2000Ile)	IL18BP, NUMA1 (T1986I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389447	NM_006185.4(NUMA1):c.868A>G (p.Met290Val)	LOC100128494, LOC126861257 +1 more (M290V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2387560	NM_006185.4(NUMA1):c.3117C>A (p.Asn1039Lys)	LOC100128494, NUMA1 (N1039K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2387215	NM_006185.4(NUMA1):c.1462G>A (p.Ala488Thr)	LOC100128494, NUMA1 (A488T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 2374386	NM_006185.4(NUMA1):c.5931G>C (p.Glu1977Asp)	IL18BP, NUMA1 (E1977D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370709	NM_006185.4(NUMA1):c.2402G>A (p.Ser801Asn)	LOC100128494, NUMA1 (S801N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2369278	NM_006185.4(NUMA1):c.1364G>T (p.Gly455Val)	LOC100128494, NUMA1 (G455V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 2359781	NM_006185.4(NUMA1):c.1894G>A (p.Asp632Asn)	LOC100128494, NUMA1 (D632N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2356977	NM_006185.4(NUMA1):c.1389G>C (p.Gln463His)	LOC100128494, NUMA1 (Q463H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance

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