MYCN[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3032539	NM_005378.6(MYCN):c.377T>C (p.Leu126Pro)	MYCN (L126P)	Single nucleotide variant (missense variant +2 more)	MYCN-related disorder	GUncertain significance
Select item 747305	NM_005378.6(MYCN):c.378G>A (p.Leu126=)	MYCN	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 1710469	NM_005378.6(MYCN):c.403C>T (p.Gln135Ter)	MYCN (Q135*)	Single nucleotide variant (nonsense +2 more)	Feingold syndrome type 1	GLikely pathogenic
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 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 284328	NM_005378.6(MYCN):c.426C>G (p.Thr142=)	MYCN	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 517711	NM_005378.6(MYCN):c.429C>T (p.Ala143=)	MYCN	Single nucleotide variant (synonymous variant +2 more)	Feingold syndrome type 1 +2 more	GLikely benign
Select item 2637006	NM_005378.6(MYCN):c.430G>A (p.Gly144Ser)	MYCN (G144S)	Single nucleotide variant (missense variant +2 more)	MYCN-related disorder	GUncertain significance
Select item 280632	NM_005378.6(MYCN):c.442del (p.Gln148fs)	MYCN (Q148fs)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic
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 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 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 817685	NM_005378.6(MYCN):c.477_492dup (p.Ala165fs)	MYCN (A165fs)	Duplication (frameshift variant +2 more)	not provided	GLikely pathogenic
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 3048513	NM_005378.6(MYCN):c.489C>A (p.Gly163=)	MYCN	Single nucleotide variant (synonymous variant +2 more)	MYCN-related disorder	GLikely benign
Select item 975606	NM_005378.6(MYCN):c.494C>A (p.Ala165Asp)	MYCN (A165D)	Single nucleotide variant (missense variant +2 more)	Intellectual disability	GLikely benign
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 265250	NM_005378.6(MYCN):c.511_551del (p.Ala171fs)	MYCN (A171fs)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2190180	NM_005378.6(MYCN):c.509G>C (p.Arg170Pro)	MYCN (R170P)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
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 3351251	NM_005378.6(MYCN):c.523_531del (p.Leu175_Ala177del)	MYCN	Deletion (inframe_deletion +2 more)	MYCN-related disorder	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 1723474	NM_005378.6(MYCN):c.538G>C (p.Ala180Pro)	MYCN (A180P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 738211	NM_005378.6(MYCN):c.549C>T (p.Ala183=)	MYCN	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1164632	NM_005378.6(MYCN):c.550G>T (p.Ala184Ser)	MYCN (A184S)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
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 1323303	NM_005378.6(MYCN):c.559del (p.Val187fs)	MYCN (V187fs)	Deletion (frameshift variant +2 more)	Feingold syndrome type 1	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 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 1564664	NM_005378.6(MYCN):c.612C>T (p.Pro204=)	MYCN	Single nucleotide variant (synonymous variant +2 more)	Feingold syndrome type 1 +1 more	GLikely benign
Select item 2898033	NM_005378.6(MYCN):c.613G>A (p.Val205Met)	MYCN (V205M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1685919	NM_005378.6(MYCN):c.614T>C (p.Val205Ala)	MYCN (V205A)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
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 1985185	NM_005378.6(MYCN):c.621A>C (p.Ala207=)	MYCN	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 13897	NM_005378.6(MYCN):c.626dup (p.Ala210fs)	MYCN (A210fs)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 1356655	NM_005378.6(MYCN):c.626C>G (p.Pro209Arg)	MYCN (P209R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 3297298	NM_005378.6(MYCN):c.638C>G (p.Pro213Arg)	MYCN (P213R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
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 2047701	NM_005378.6(MYCN):c.654G>C (p.Ala218=)	MYCN	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 379273	NM_005378.6(MYCN):c.658G>T (p.Ala220Ser)	MYCN (A220S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3340751	NM_005378.6(MYCN):c.661T>A (p.Ser221Thr)	MYCN (S221T)	Single nucleotide variant (missense variant +2 more)	not provided	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 385391	NM_005378.6(MYCN):c.681C>T (p.Ala227=)	MYCN	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3038694	NM_005378.6(MYCN):c.684A>C (p.Pro228=)	MYCN	Single nucleotide variant (synonymous variant +2 more)	MYCN-related disorder	GLikely benign
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 1707151	NM_005378.6(MYCN):c.704C>G (p.Ala235Gly)	MYCN (A235G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 497760	NM_005378.6(MYCN):c.710C>T (p.Pro237Leu)	MYCN (P237L)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 2172718	NM_005378.6(MYCN):c.713G>T (p.Arg238Leu)	MYCN (R238L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1224362	NM_005378.6(MYCN):c.718G>A (p.Gly240Ser)	MYCN (G240S)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
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 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 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 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 1304464	NM_005378.6(MYCN):c.756C>G (p.Leu252=)	MYCN	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 729300	NM_005378.6(MYCN):c.780G>A (p.Leu260=)	MYCN	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 794561	NM_005378.6(MYCN):c.783C>T (p.Ser261=)	MYCN	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 620521	NM_005378.6(MYCN):c.788C>G (p.Ser263Ter)	MYCN (S263*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 453036	NM_005378.6(MYCN):c.790+1G>T	MYCN	Single nucleotide variant (splice donor variant +1 more)	not provided	GPathogenic
Select item 445739	NM_005378.6(MYCN):c.790+16G>A	MYCN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1902646	NM_005378.6(MYCN):c.791-14C>G	MYCN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3336456	NM_005378.6(MYCN):c.791-7C>A	MYCN	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 196409	NM_005378.6(MYCN):c.801_809del	MYCN	Microsatellite	Feingold syndrome type 1 +1 more	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 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 1185065	NM_005378.6(MYCN):c.796G>T (p.Glu266Ter)	MYCN (E266* +1 more)	Single nucleotide variant (nonsense +1 more)	Feingold syndrome type 1	GLikely pathogenic
Select item 985858	NM_005378.6(MYCN):c.799del (p.Asp267fs)	MYCN (D267fs +1 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
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 2720923	NM_005378.6(MYCN):c.804TGAAGAGGAAGA[1] (p.268DEEE[1])	MYCN	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 382560	NM_005378.6(MYCN):c.813A>G (p.Glu271=)	MYCN	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 281398	NM_005378.6(MYCN):c.817G>T (p.Glu273Ter)	MYCN (E273* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1071408	NM_005378.6(MYCN):c.835dup (p.Val279fs)	MYCN (V279fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 196408	NM_005378.6(MYCN):c.835G>A (p.Val279Met)	MYCN (V279M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 829866	NM_005378.6(MYCN):c.845_846del (p.Val282fs)	MYCN (V282fs +1 more)	Microsatellite (frameshift variant +1 more)	Feingold syndrome type 1	GLikely pathogenic
Select item 1684292	NM_005378.6(MYCN):c.854G>T (p.Arg285Leu)	MYCN (R285L +1 more)	Single nucleotide variant (missense variant +1 more)	Feingold syndrome type 1	GUncertain significance
Select item 3054375	NM_005378.6(MYCN):c.888A>T (p.Thr296=)	MYCN	Single nucleotide variant (synonymous variant +1 more)	MYCN-related disorder	GLikely benign
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
Select item 433154	NM_005378.6(MYCN):c.902_903del (p.Val301fs)	MYCN (V301fs +1 more)	Microsatellite (frameshift variant +1 more)	Feingold syndrome type 1	GPathogenic
Select item 2637010	NM_005378.6(MYCN):c.901del (p.Val301fs)	MYCN (V301fs +1 more)	Deletion (frameshift variant +1 more)	MYCN-related disorder	GLikely pathogenic
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 2416631	NM_005378.6(MYCN):c.915C>T (p.Asn305=)	MYCN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 3067468	NM_005378.6(MYCN):c.930C>T (p.Pro310=)	MYCN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3297297	NM_005378.6(MYCN):c.935G>C (p.Arg312Thr)	MYCN (R312T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 377368	NM_005378.6(MYCN):c.935G>A (p.Arg312Lys)	MYCN (R312K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1937281	NM_005378.6(MYCN):c.937G>T (p.Ala313Ser)	MYCN (A102S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 1331605	NM_005378.6(MYCN):c.963dup (p.Arg322fs)	MYCN (R111fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 433151	NM_005378.6(MYCN):c.964C>T (p.Arg322Ter)	MYCN (R322* +1 more)	Single nucleotide variant (nonsense +1 more)	Feingold syndrome type 1 +1 more	GPathogenic
Select item 772788	NM_005378.6(MYCN):c.993C>T (p.Asn331=)	MYCN	Single nucleotide variant (synonymous 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 148075	GRCh38/hg38 2p24.3(chr2:15945713-15946211)x3	MYCN	Copy number gain	See cases	GUncertain significance
Select item 764929	NM_005378.6(MYCN):c.1014C>T (p.Tyr338=)	MYCN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 433149	NM_005378.6(MYCN):c.1014C>A (p.Tyr338Ter)	MYCN (Y338* +1 more)	Single nucleotide variant (nonsense +1 more)	Feingold syndrome type 1	GPathogenic
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 3347235	NM_005378.6(MYCN):c.1016T>G (p.Val339Gly)	MYCN (V128G +1 more)	Single nucleotide variant (missense variant +1 more)	MYCN-related disorder	GUncertain significance
Select item 986109	NM_005378.6(MYCN):c.1037dup (p.Gln347fs)	MYCN (Q136fs +1 more)	Duplication (frameshift variant +1 more)	Inborn genetic diseases	GLikely pathogenic

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