ClinVar for Gene (Select 10068) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3352963	NM_006185.4(NUMA1):c.6336+3AG[3]	IL18BP, NUMA1	Microsatellite (intron variant)	NUMA1-related disorder	GLikely benign
Select item 3301436	NM_006185.4(NUMA1):c.5960G>A (p.Arg1987His)	IL18BP, NUMA1 (R1973H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301434	NM_006185.4(NUMA1):c.5419G>A (p.Ala1807Thr)	IL18BP, NUMA1 (A1793T +1 more)	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 provided +1 more	GConflicting classifications of pathogenicity
Select item 3109200	NM_001039660.2(IL18BP):c.36C>A (p.Ser12Arg)	IL18BP (S12R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 3020628	NM_001039660.2(IL18BP):c.194C>T (p.Pro65Leu)	IL18BP (P65L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3019840	NM_001039660.2(IL18BP):c.165C>T (p.Pro55=)	IL18BP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2916150	NM_001039660.2(IL18BP):c.338G>A (p.Arg113Gln)	IL18BP (R113Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2900367	NM_001039660.2(IL18BP):c.272G>T (p.Arg91Leu)	IL18BP (R91L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2897272	NM_001039660.2(IL18BP):c.66C>T (p.His22=)	IL18BP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2892879	NM_001039660.2(IL18BP):c.28+6C>T	IL18BP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2890561	NM_001039660.2(IL18BP):c.69C>A (p.Val23=)	IL18BP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2881065	NM_001039660.2(IL18BP):c.565A>G (p.Ser189Gly)	IL18BP (Q98R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2879566	NM_001039660.2(IL18BP):c.359+10G>T	IL18BP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876797	NM_001039660.2(IL18BP):c.253T>C (p.Ser85Pro)	IL18BP (S85P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2875876	NM_001039660.2(IL18BP):c.273C>A (p.Arg91=)	IL18BP	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2873009	NM_001039660.2(IL18BP):c.26C>G (p.Pro9Arg)	IL18BP (P9R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872727	NM_001039660.2(IL18BP):c.239G>A (p.Gly80Glu)	IL18BP (G80E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2872364	NM_001039660.2(IL18BP):c.456C>T (p.Leu152=)	IL18BP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2871867	NM_001039660.2(IL18BP):c.236-10G>T	IL18BP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871543	NM_001039660.2(IL18BP):c.473T>C (p.Val158Ala)	IL18BP (V158A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2871357	NM_001039660.2(IL18BP):c.534C>G (p.Pro178=)	IL18BP (H136D +1 more)	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2870340	NM_001039660.2(IL18BP):c.524C>T (p.Thr175Ile)	IL18BP (T175I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2869090	NM_001039660.2(IL18BP):c.507+1G>A	IL18BP (V170M)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2868545	NM_001039660.2(IL18BP):c.508-3T>C	IL18BP	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2867483	NM_001039660.2(IL18BP):c.28+18G>A	IL18BP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2867422	NM_001039660.2(IL18BP):c.168A>C (p.Pro56=)	IL18BP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2862339	NM_001039660.2(IL18BP):c.532C>T (p.Pro178Ser)	IL18BP (P135L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2856813	NM_001039660.2(IL18BP):c.481C>T (p.Arg161Cys)	IL18BP (R161C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2855066	NM_001039660.2(IL18BP):c.508-4C>T	IL18BP	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2849771	NM_001039660.2(IL18BP):c.357C>G (p.Thr119=)	IL18BP	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2830523	NM_001039660.2(IL18BP):c.328C>G (p.Leu110Val)	IL18BP (L110V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2825007	NM_001039660.2(IL18BP):c.507+14G>A	IL18BP (R174K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2824119	NM_001039660.2(IL18BP):c.19_20del (p.Trp7fs)	IL18BP (W7fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2815624	NM_001039660.2(IL18BP):c.542A>C (p.Glu181Ala)	IL18BP (E181A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2813565	NM_001039660.2(IL18BP):c.448T>C (p.Cys150Arg)	IL18BP (C150R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2810842	NM_001039660.2(IL18BP):c.29-3C>G	IL18BP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2809366	NM_001039660.2(IL18BP):c.76C>T (p.Leu26Phe)	IL18BP (L26F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2808685	NM_001039660.2(IL18BP):c.29-18T>C	IL18BP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2808518	NM_001039660.2(IL18BP):c.28+9T>A	IL18BP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2804421	NM_001039660.2(IL18BP):c.7A>G (p.Met3Val)	IL18BP (M3V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2801152	NM_001039660.2(IL18BP):c.508-16G>A	IL18BP	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2798305	NM_001039660.2(IL18BP):c.28+2dup	IL18BP	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 2798244	NM_001039660.2(IL18BP):c.169G>C (p.Val57Leu)	IL18BP (V57L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2798154	NM_001039660.2(IL18BP):c.459G>A (p.Val153=)	IL18BP	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2790743	NM_001039660.2(IL18BP):c.577C>T (p.Gln193Ter)	IL18BP (Q193* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 2790449	NM_001039660.2(IL18BP):c.508-1G>A	IL18BP	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2783607	NM_001039660.2(IL18BP):c.534dup (p.Thr179fs)	IL18BP (H136fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2781909	NM_001039660.2(IL18BP):c.447C>G (p.Ser149=)	IL18BP	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2776896	NM_001039660.2(IL18BP):c.359+11C>T	IL18BP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2772474	NM_001039660.2(IL18BP):c.325C>G (p.His109Asp)	IL18BP (H109D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2757865	NM_001039660.2(IL18BP):c.432C>T (p.His144=)	IL18BP	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2748801	NM_001039660.2(IL18BP):c.41T>C (p.Leu14Ser)	IL18BP (L14S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2747338	NM_001039660.2(IL18BP):c.236-6C>T	IL18BP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2745978	NM_001039660.2(IL18BP):c.449G>A (p.Cys150Tyr)	IL18BP (C150Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2740754	NM_001039660.2(IL18BP):c.446_448del (p.Ser149del)	IL18BP (S149del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2731128	NM_001039660.2(IL18BP):c.28+16A>G	IL18BP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2715302	NM_001039660.2(IL18BP):c.279C>G (p.Pro93=)	IL18BP	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2709311	NM_001039660.2(IL18BP):c.359+9_359+10delinsGCTCCCAACCCGACCCTGGGAACCTCTGTGCCCATAGCCCACCCTCCACCACTGTGCTTCTTACTCAGTGGCACTTCCACCTCTGGCCAGGTCACTTCCAATGCTGGACACTGCTTAGCTGCTGGGAACACTGGGGGCTGGGAGGGGCAGGGGTCCTTTGTGCTTCTAACTGAGGCAGTGGCAGCTGTGGTGGTCTGCGAGACAGGTGTGGCTCTGACCAGGAGAGTGACGACGTGGGCACACAGGAGCAGGACCCACAAAGGGCTGAGGTCTGAGGAAAGGA	IL18BP	Indel (intron variant)	not provided	GUncertain significance
Select item 2708937	NM_001039660.2(IL18BP):c.567T>C (p.Ser189=)	IL18BP (S147P +1 more)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2707387	NM_001039660.2(IL18BP):c.62C>T (p.Ala21Val)	IL18BP (A21V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2696923	NM_001039660.2(IL18BP):c.51G>A (p.Leu17=)	IL18BP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2688428	NM_001039660.2(IL18BP):c.236-72G>A	IL18BP	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2642109	NM_001039660.2(IL18BP):c.507+82A>T	IL18BP (S197C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2608191	NM_001039660.2(IL18BP):c.507+80A>C	IL18BP (Q196P)	Single nucleotide variant (missense variant +1 more)	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 2553682	NM_001039660.2(IL18BP):c.176C>T (p.Pro59Leu)	IL18BP (P59L)	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 2543536	NM_001039660.2(IL18BP):c.482G>T (p.Arg161Leu)	IL18BP (R161L)	Single nucleotide variant (missense variant +1 more)	not specified	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)	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 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 2487739	NM_001039660.2(IL18BP):c.364G>A (p.Glu122Lys)	IL18BP (E122K)	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 2420160	NM_001039660.2(IL18BP):c.355_356del (p.Thr119fs)	IL18BP (T119fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2418456	NM_001039660.2(IL18BP):c.486C>T (p.His162=)	IL18BP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2413798	NM_001039660.2(IL18BP):c.350G>A (p.Gly117Glu)	IL18BP (G117E)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 2356361	NM_006185.4(NUMA1):c.5472T>A (p.Asp1824Glu)	IL18BP, NUMA1 (D1824E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340565	NM_006185.4(NUMA1):c.5653C>T (p.Arg1885Cys)	IL18BP, NUMA1 (R1871C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2338205	NM_006185.4(NUMA1):c.5728G>A (p.Glu1910Lys)	IL18BP, NUMA1 (E1910K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330280	NM_001039660.2(IL18BP):c.403G>A (p.Val135Met)	IL18BP (V135M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323377	NM_006185.4(NUMA1):c.5423G>A (p.Arg1808His)	IL18BP, NUMA1 (R1794H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316571	NM_001039660.2(IL18BP):c.70G>C (p.Val24Leu)	IL18BP (V24L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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