ClinVar for Gene (Select 4613) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3068096	NM_005378.6(MYCN):c.719G>T (p.Gly240Val)	MYCN (G240V)	Single nucleotide variant (missense variant +2 more)	Feingold syndrome type 1	GUncertain significance
Select item 3067468	NM_005378.6(MYCN):c.930C>T (p.Pro310=)	MYCN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3062616	GRCh37/hg19 2p24.3(chr2:12289529-16104486)x1	DDX1, LRATD1 +4 more	Copy number loss	not specified	GPathogenic
Select item 3062591	GRCh37/hg19 2p25.2-24.1(chr2:6375088-23538518)x3	APOB, ASAP2 +59 more	Copy number gain	not specified	GPathogenic
Select item 3062271	NM_005378.6(MYCN):c.1037del (p.Pro346fs)	MYCN (P135fs +1 more)	Deletion (frameshift variant +1 more)	Feingold syndrome type 1	GLikely pathogenic
Select item 3058202	NM_005378.6(MYCN):c.131C>A (p.Pro44His)	MYCN, MYCNOS (P44H)	Single nucleotide variant (non-coding transcript variant +3 more)	MYCN-related condition	GUncertain significance
Select item 3054375	NM_005378.6(MYCN):c.888A>T (p.Thr296=)	MYCN	Single nucleotide variant (synonymous variant +1 more)	MYCN-related condition	GLikely benign
Select item 3048513	NM_005378.6(MYCN):c.489C>A (p.Gly163=)	MYCN	Single nucleotide variant (synonymous variant +2 more)	MYCN-related condition	GLikely benign
Select item 3043922	NM_005378.6(MYCN):c.-101C>T	MYCN, MYCNOS	Single nucleotide variant (5 prime UTR variant +2 more)	MYCN-related condition	GLikely benign
Select item 3041890	NM_005378.6(MYCN):c.-177C>T	MYCN, MYCNOS (P33L)	Single nucleotide variant (5 prime UTR variant +1 more)	MYCN-related condition	GLikely benign
Select item 3038694	NM_005378.6(MYCN):c.684A>C (p.Pro228=)	MYCN	Single nucleotide variant (synonymous variant +2 more)	MYCN-related condition	GLikely benign
Select item 3032539	NM_005378.6(MYCN):c.377T>C (p.Leu126Pro)	MYCN (L126P)	Single nucleotide variant (missense variant +2 more)	MYCN-related condition	GUncertain significance
Select item 3032222	NM_005378.6(MYCN):c.129C>A (p.Thr43=)	MYCN, MYCNOS	Single nucleotide variant (non-coding transcript variant +3 more)	MYCN-related condition	GLikely benign
Select item 3030934	NM_005378.6(MYCN):c.1123T>G (p.Ser375Ala)	MYCN (S164A +1 more)	Single nucleotide variant (missense variant +1 more)	MYCN-related condition	GUncertain significance
Select item 3030404	NM_005378.6(MYCN):c.-133C>T	MYCN, MYCNOS	Single nucleotide variant (5 prime UTR variant +1 more)	MYCN-related condition	GLikely benign
Select item 2989783	NM_005378.6(MYCN):c.736G>A (p.Gly246Ser)	MYCN (G246S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2966893	NM_005378.6(MYCN):c.258G>A (p.Glu86=)	MYCN, MYCNOS	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GLikely benign
Select item 2914772	NM_005378.6(MYCN):c.295C>T (p.Leu99=)	MYCN, MYCNOS	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GLikely benign
Select item 2898033	NM_005378.6(MYCN):c.613G>A (p.Val205Met)	MYCN (V205M)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2897414	NM_005378.6(MYCN):c.408C>A (p.His136Gln)	MYCN (H136Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2877279	NM_005378.6(MYCN):c.500G>A (p.Gly167Glu)	MYCN (G167E)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2873779	NM_005378.6(MYCN):c.1306G>A (p.Glu436Lys)	MYCN (E436K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2824141	NM_005378.6(MYCN):c.1193G>A (p.Arg398Gln)	MYCN (R187Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2808432	NM_005378.6(MYCN):c.1015G>T (p.Val339Leu)	MYCN (V128L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2788480	NM_005378.6(MYCN):c.794A>G (p.Asp265Gly)	MYCN (D265G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2782862	NM_005378.6(MYCN):c.685G>A (p.Ala229Thr)	MYCN (A229T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2720923	NM_005378.6(MYCN):c.804TGAAGAGGAAGA[1] (p.268DEEE[1])	MYCN	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2712205	NM_005378.6(MYCN):c.20C>T (p.Ser7Phe)	MYCN, MYCNOS (S7F)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2689484	NM_005378.6(MYCN):c.1384C>T (p.Arg462Trp)	MYCN (R251W +1 more)	Single nucleotide variant (missense variant +1 more)	Feingold syndrome type 1	GUncertain significance
Select item 2672801	NM_005378.6(MYCN):c.672T>G (p.Gly224=)	MYCN	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2672800	NM_005378.6(MYCN):c.279G>C (p.Glu93Asp)	MYCN, MYCNOS (E93D)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GUncertain significance
Select item 2663700	NM_005378.6(MYCN):c.321dup (p.Asn108fs)	MYCN, MYCNOS (N108fs)	Duplication (non-coding transcript variant +3 more)	not provided	GLikely pathogenic
Select item 2650697	NM_005378.6(MYCN):c.1305C>T (p.Ala435=)	MYCN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2650696	NM_005378.6(MYCN):c.1087A>G (p.Ile363Val)	MYCN (I152V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2650695	NM_005378.6(MYCN):c.1009C>A (p.Pro337Thr)	MYCN (P126T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2650694	NM_005378.6(MYCN):c.111C>A (p.Phe37Leu)	MYCN, MYCNOS (F37L)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2650693	NM_005378.6(MYCN):c.35T>G (p.Met12Arg)	MYCN, MYCNOS (H103Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2650692	NM_005378.6(MYCN):c.-170A>C	MYCN, MYCNOS	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2650691	NM_005378.6(MYCN):c.-214G>T	MYCNOS, MYCN (A21S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2637489	NM_005378.6(MYCN):c.354C>A (p.Ser118Arg)	MYCN, MYCNOS (S118R)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 2637010	NM_005378.6(MYCN):c.901del (p.Val301fs)	MYCN (V301fs +1 more)	Deletion (frameshift variant +1 more)	MYCN-related condition	GLikely pathogenic
Select item 2637006	NM_005378.6(MYCN):c.430G>A (p.Gly144Ser)	MYCN (G144S)	Single nucleotide variant (missense variant +2 more)	MYCN-related condition	GUncertain significance
Select item 2635585	NM_005378.6(MYCN):c.302dup (p.Leu102fs)	MYCN, MYCNOS (L102fs)	Duplication (non-coding transcript variant +3 more)	MYCN-related condition	GLikely pathogenic
Select item 2629965	NM_005378.6(MYCN):c.-27C>T	MYCN, MYCNOS (P83L)	Single nucleotide variant (5 prime UTR variant +2 more)	MYCN-related condition	GUncertain significance
Select item 2629799	NM_005378.6(MYCN):c.-178C>A	MYCN, MYCNOS (P33T)	Single nucleotide variant (5 prime UTR variant +1 more)	MYCN-related condition	GUncertain significance
Select item 2628397	NM_005378.6(MYCN):c.1198A>C (p.Ser400Arg)	MYCN (S189R +1 more)	Single nucleotide variant (missense variant +1 more)	MYCN-related condition	GUncertain significance
Select item 2627009	NM_005378.6(MYCN):c.727C>T (p.Gln243Ter)	MYCN (Q243*)	Single nucleotide variant (nonsense +2 more)	Feingold syndrome type 1	GLikely pathogenic
Select item 2611173	NM_005378.6(MYCN):c.608C>A (p.Ala203Glu)	MYCN (A203E)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2581740	NM_005378.6(MYCN):c.1287T>G (p.Tyr429Ter)	MYCN (Y218* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 2581158	NM_005378.6(MYCN):c.633_634dup (p.Ala212fs)	MYCN (A212fs)	Duplication (frameshift variant +2 more)	Feingold syndrome type 1	GLikely pathogenic
Select item 2578845	NM_005378.6(MYCN):c.543C>T (p.His181=)	MYCN	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2577558	NM_005378.6(MYCN):c.1070G>A (p.Arg357His)	MYCN (R146H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2575842	NM_005378.6(MYCN):c.1049T>C (p.Ile350Thr)	MYCN (I139T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2571637	NM_005378.6(MYCN):c.367del (p.Arg123fs)	MYCN, MYCNOS (R123fs)	Deletion (non-coding transcript variant +3 more)	Feingold syndrome type 1	GPathogenic
Select item 2534293	NM_005378.6(MYCN):c.473C>G (p.Ala158Gly)	MYCN (A158G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2534292	NM_005378.6(MYCN):c.463G>A (p.Ala155Thr)	MYCN (A155T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2534291	NM_005378.6(MYCN):c.443A>G (p.Gln148Arg)	MYCN (Q148R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2534290	NM_005378.6(MYCN):c.424A>G (p.Thr142Ala)	MYCN (T142A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2523543	NM_005378.6(MYCN):c.1090C>T (p.Pro364Ser)	MYCN (P153S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520070	NM_005378.6(MYCN):c.311G>A (p.Gly104Asp)	MYCN, MYCNOS (G104D)	Single nucleotide variant (non-coding transcript variant +3 more)	Inborn genetic diseases	GLikely benign
Select item 2507183	NM_005378.6(MYCN):c.134del (p.Pro45fs)	MYCN, MYCNOS (P45fs)	Deletion (non-coding transcript variant +3 more)	Feingold syndrome type 1 +1 more	GPathogenic/Likely pathogenic
Select item 2506946	NM_005378.6(MYCN):c.1211T>G (p.Leu404Arg)	MYCN (L193R +1 more)	Single nucleotide variant (missense variant +1 more)	Feingold syndrome type 1	GLikely pathogenic
Select item 2503222	NM_005378.6(MYCN):c.446C>T (p.Ser149Phe)	MYCN (S149F)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2500723	NM_005378.6(MYCN):c.1060G>T (p.Ala354Ser)	MYCN (A143S +1 more)	Single nucleotide variant (missense variant +1 more)	Feingold syndrome type 1	GUncertain significance
Select item 2499959	NM_005378.6(MYCN):c.557_558delinsTT (p.Cys186Phe)	MYCN (C186F)	Indel (missense variant +2 more)	not provided	GUncertain significance
Select item 2499579	NM_005378.6(MYCN):c.1274_1283del (p.Lys425fs)	MYCN (K214fs +1 more)	Deletion (frameshift variant +1 more)	Feingold syndrome type 1	GLikely pathogenic
Select item 2492609	NM_005378.6(MYCN):c.1258G>T (p.Val420Leu)	MYCN (V209L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2486664	NM_005378.6(MYCN):c.328del (p.Val110fs)	MYCN, MYCNOS (V110fs)	Deletion (non-coding transcript variant +3 more)	Inborn genetic diseases	GPathogenic
Select item 2482878	NM_005378.6(MYCN):c.571G>A (p.Val191Met)	MYCN (V191M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2480875	NM_005378.6(MYCN):c.293G>A (p.Gly98Asp)	MYCN, MYCNOS (G98D)	Single nucleotide variant (non-coding transcript variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2445219	NM_005378.6(MYCN):c.179C>T (p.Pro60Leu)	MYCN, MYCNOS (P60L)	Single nucleotide variant (non-coding transcript variant +3 more)	See cases	GLikely pathogenic
Select item 2443779	NM_005378.6(MYCN):c.173C>T (p.Thr58Met)	MYCN, MYCNOS (T58M)	Single nucleotide variant (non-coding transcript variant +3 more)	MYCN-related condition +1 more	GPathogenic/Likely pathogenic
Select item 2433864	NM_005378.6(MYCN):c.347T>C (p.Met116Thr)	MYCN, MYCNOS (M116T)	Single nucleotide variant (non-coding transcript variant +3 more)	Feingold syndrome type 1	GUncertain significance
Select item 2420847	NM_005378.6(MYCN):c.1368G>T (p.Lys456Asn)	MYCN (K245N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2416631	NM_005378.6(MYCN):c.915C>T (p.Asn305=)	MYCN	Single nucleotide variant (synonymous variant +1 more)	MYCN-related condition +1 more	GLikely benign
Select item 2407622	NM_005378.6(MYCN):c.302G>A (p.Gly101Glu)	MYCN, MYCNOS (G101E)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided +1 more	GUncertain significance
Select item 2322399	NM_005378.6(MYCN):c.313C>T (p.Leu105Phe)	MYCN, MYCNOS (L105F)	Single nucleotide variant (non-coding transcript variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2308758	NM_005378.6(MYCN):c.1050A>G (p.Ile350Met)	MYCN (I139M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2296052	NM_005378.6(MYCN):c.950_951dup (p.Leu318fs)	MYCN (L318fs +1 more)	Duplication (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 2292083	NM_005378.6(MYCN):c.641C>A (p.Ala214Glu)	MYCN (A214E)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2279877	NM_005378.6(MYCN):c.916G>A (p.Ala306Thr)	MYCN (A306T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2265660	NM_005378.6(MYCN):c.782G>A (p.Ser261Asn)	MYCN (S261N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2261921	NM_005378.6(MYCN):c.533A>C (p.Glu178Ala)	MYCN (E178A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2258842	NM_005378.6(MYCN):c.382C>A (p.Arg128Ser)	MYCN (R128S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2190180	NM_005378.6(MYCN):c.509G>C (p.Arg170Pro)	MYCN (R170P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2183820	NM_005378.6(MYCN):c.753C>T (p.Ala251=)	MYCN	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign/Likely benign
Select item 2172718	NM_005378.6(MYCN):c.713G>T (p.Arg238Leu)	MYCN (R238L)	Single nucleotide variant (intron variant +2 more)	not provided	GUncertain significance
Select item 2132655	NM_005378.6(MYCN):c.1047G>A (p.Lys349=)	MYCN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2108584	NM_005378.6(MYCN):c.621dup (p.Ala208fs)	MYCN (A208fs)	Duplication (frameshift variant +2 more)	Feingold syndrome type 1 +1 more	GPathogenic/Likely pathogenic
Select item 2106751	NM_005378.6(MYCN):c.511G>C (p.Ala171Pro)	MYCN (A171P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2105662	NM_005378.6(MYCN):c.794A>T (p.Asp265Val)	MYCN (D265V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2047701	NM_005378.6(MYCN):c.654G>C (p.Ala218=)	MYCN	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2047313	NM_005378.6(MYCN):c.1365A>T (p.Leu455=)	MYCN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1985185	NM_005378.6(MYCN):c.621A>C (p.Ala207=)	MYCN	Single nucleotide variant (synonymous variant +2 more)	MYCN-related condition +1 more	GLikely benign
Select item 1978553	NM_005378.6(MYCN):c.804TGAAGAGGAAGA[3] (p.Glu275_Glu276insAspGluGluGlu)	MYCN	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1977953	NM_005378.6(MYCN):c.200T>C (p.Phe67Ser)	MYCN, MYCNOS (F67S)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GUncertain significance
Select item 1968309	NM_005378.6(MYCN):c.909C>G (p.Pro303=)	MYCN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1960211	NM_005378.6(MYCN):c.1180C>T (p.Arg394Cys)	MYCN (R183C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1955185	NM_005378.6(MYCN):c.899C>T (p.Thr300Ile)	MYCN (T300I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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