Related gene-specific medical variations for Gene (Select 4613) - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358963	NM_005378.6(MYCN):c.1249G>T (p.Ala417Ser)	MYCN (A206S +1 more)	Single nucleotide variant (missense variant +1 more)	Feingold syndrome type 1	GUncertain significance
Select item 3356008	NM_005378.6(MYCN):c.-221C>G	MYCNOS, MYCN	Single nucleotide variant (5 prime UTR variant +1 more)	MYCN-related disorder	GLikely benign
Select item 3350611	NM_005378.6(MYCN):c.-228C>T	MYCN, MYCNOS (A16V)	Single nucleotide variant (5 prime UTR variant +1 more)	MYCN-related disorder	GUncertain significance
Select item 3337347	NM_005378.6(MYCN):c.274G>A (p.Ala92Thr)	MYCN, MYCNOS (A92T)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GUncertain significance
Select item 3236331	NM_005378.6(MYCN):c.-214del	MYCN, MYCNOS (A21fs)	Deletion (5 prime UTR variant +1 more)	Feingold syndrome type 1	GLikely benign
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 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 disorder	GUncertain significance
Select item 3043922	NM_005378.6(MYCN):c.-101C>T	MYCN, MYCNOS	Single nucleotide variant (5 prime UTR variant +2 more)	MYCN-related disorder	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 disorder	GLikely benign
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 disorder	GLikely benign
Select item 3030404	NM_005378.6(MYCN):c.-133C>T	MYCN, MYCNOS	Single nucleotide variant (5 prime UTR variant +1 more)	MYCN-related disorder	GLikely benign
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 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 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 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	MYCN, MYCNOS (A21S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
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 2635585	NM_005378.6(MYCN):c.302dup (p.Leu102fs)	MYCN, MYCNOS (L102fs)	Duplication (non-coding transcript variant +3 more)	MYCN-related disorder	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 disorder	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 disorder	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 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 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 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)	Megalencephaly-polydactyly syndrome +2 more	GConflicting classifications of pathogenicity
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 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 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 1805019	NM_005378.6(MYCN):c.-84G>T	MYCN, MYCNOS (R64L)	Single nucleotide variant (5 prime UTR variant +2 more)	Feingold syndrome type 1	GUncertain significance
Select item 1804255	NM_005378.6(MYCN):c.157T>A (p.Phe53Ile)	MYCN, MYCNOS (F53I)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GUncertain significance
Select item 1709468	NM_005378.6(MYCN):c.215C>T (p.Ser72Phe)	MYCN, MYCNOS (S72F)	Single nucleotide variant (non-coding transcript variant +3 more)	Feingold syndrome type 1	GUncertain significance
Select item 1709269	NM_005378.6(MYCN):c.256G>T (p.Glu86Ter)	MYCN, MYCNOS (E86*)	Single nucleotide variant (non-coding transcript variant +3 more)	Feingold syndrome type 1	GPathogenic
Select item 1679249	NM_005378.6(MYCN):c.77C>T (p.Pro26Leu)	MYCN, MYCNOS (P26L)	Single nucleotide variant (missense variant +2 more)	Feingold syndrome type 1	GLikely pathogenic
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 1308103	NM_005378.6(MYCN):c.221C>G (p.Pro74Arg)	MYCN, MYCNOS (P74R)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GUncertain significance
Select item 1307616	NM_005378.6(MYCN):c.227G>T (p.Ser76Ile)	MYCN, MYCNOS (S76I)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GUncertain significance
Select item 1285553	NM_005378.6(MYCN):c.152del (p.Lys51fs)	MYCN, MYCNOS (K51fs)	Deletion (non-coding transcript variant +3 more)	Feingold syndrome type 1	GLikely pathogenic
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 1209962	NM_005378.6(MYCN):c.204_205del (p.Glu69fs)	MYCN, MYCNOS (E69fs)	Deletion (frameshift variant +3 more)	not provided	GPathogenic
Select item 1196537	NM_005378.6(MYCN):c.-149A>G	MYCN, MYCNOS	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1191232	NM_005378.6(MYCN):c.-117-126G>A	MYCN, MYCNOS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 977840	NM_005378.6(MYCN):c.2T>C (p.Met1Thr)	MYCN, MYCNOS (M1T)	Single nucleotide variant (missense variant +3 more)	Feingold syndrome type 1	GLikely benign
Select item 975607	NM_005378.6(MYCN):c.1171C>A (p.Arg391Ser)	MYCN (R180S +1 more)	Single nucleotide variant (missense variant +1 more)	Feingold syndrome type 1	GLikely pathogenic
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 872197	NM_005378.6(MYCN):c.1094dup (p.Ala367fs)	MYCN (A156fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 817596	NM_005378.6(MYCN):c.134dup (p.Glu47fs)	MYCN, MYCNOS (E47fs)	Duplication (non-coding transcript variant +3 more)	not provided +1 more	GPathogenic
Select item 797178	NM_005378.6(MYCN):c.189C>A (p.Pro63=)	MYCN, MYCNOS	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GBenign
Select item 717542	NM_005378.6(MYCN):c.90G>C (p.Pro30=)	MYCN, MYCNOS	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GLikely benign
Select item 703646	NM_005378.6(MYCN):c.141G>A (p.Glu47=)	MYCNOS, MYCN	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GLikely benign
Select item 703188	NM_005378.6(MYCN):c.279G>A (p.Glu93=)	MYCNOS, MYCN	Single nucleotide variant (non-coding transcript variant +3 more)	not provided +1 more	GLikely benign
Select item 695120	NM_005378.6(MYCN):c.-211C>T	MYCN, MYCNOS (Q22*)	Single nucleotide variant (5 prime UTR variant +1 more)	Feingold syndrome type 1	Gnot provided
Select item 695119	NM_005378.6(MYCN):c.1105_1106dup (p.Ser369fs)	MYCN (S158fs +1 more)	Microsatellite (frameshift variant +1 more)	Feingold syndrome type 1	Gnot provided
Select item 669345	NM_005378.6(MYCN):c.-98C>T	MYCN, MYCNOS	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 642491	NM_005378.6(MYCN):c.256G>C (p.Glu86Gln)	MYCN, MYCNOS (E86Q)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GUncertain significance
Select item 562371	NM_005378.6(MYCN):c.228dup (p.Trp77fs)	MYCN, MYCNOS (W77fs)	Duplication (non-coding transcript variant +3 more)	not provided	GLikely pathogenic
Select item 517759	NM_005378.6(MYCN):c.69G>T (p.Ser23=)	MYCN, MYCNOS	Single nucleotide variant (synonymous variant +2 more)	Feingold syndrome type 1 +1 more	GBenign/Likely benign
Select item 516655	NM_005378.6(MYCN):c.18G>A (p.Thr6=)	MYCN, MYCNOS (V98I)	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GLikely benign
Select item 510953	NM_005378.6(MYCN):c.-117-9C>T	MYCNOS, MYCN	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 509766	NM_005378.6(MYCN):c.-17G>C	MYCN, MYCNOS	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 497281	NM_005378.6(MYCN):c.8G>C (p.Ser3Thr)	MYCN, MYCNOS (S3T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 445739	NM_005378.6(MYCN):c.790+16G>A	MYCN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 433150	NM_005378.6(MYCN):c.68_71dup (p.Gln25fs)	MYCN, MYCNOS (Q25fs)	Duplication (frameshift variant +2 more)	Feingold syndrome type 1	GPathogenic
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 376460	NM_005378.6(MYCN):c.131C>T (p.Pro44Leu)	MYCN, MYCNOS (P44L)	Single nucleotide variant (non-coding transcript variant +3 more)	Malignant neoplasm of body of uterus +5 more	GLikely pathogenic OLikely oncogenic
Select item 279969	NM_005378.6(MYCN):c.73C>T (p.Gln25Ter)	MYCNOS, MYCN (Q25*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 195243	NM_005378.6(MYCN):c.207G>A (p.Glu69=)	MYCN, MYCNOS	Single nucleotide variant (non-coding transcript variant +3 more)	not specified +1 more	GBenign
Select item 148075	GRCh38/hg38 2p24.3(chr2:15945713-15946211)x3	MYCN	Copy number gain	See cases	GUncertain significance
Select item 13896	NM_005378.6(MYCN):c.217G>T (p.Glu73Ter)	MYCN, MYCNOS (E73*)	Single nucleotide variant (non-coding transcript variant +3 more)	Feingold syndrome type 1	GPathogenic
Select item 13895	NM_005378.6(MYCN):c.231G>A (p.Trp77Ter)	MYCN, MYCNOS (W77*)	Single nucleotide variant (non-coding transcript variant +3 more)	Feingold syndrome type 1	GPathogenic

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Items: 78