"GeneDx"[submitter] AND "MYCN"[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 510953	NM_005378.6(MYCN):c.-117-9C>T	MYCNOS, MYCN	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 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 977840	NM_005378.6(MYCN):c.2T>C (p.Met1Thr)	MYCN, MYCNOS (M1T)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
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 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 279969	NM_005378.6(MYCN):c.73C>T (p.Gln25Ter)	MYCNOS, MYCN (Q25*)	Single nucleotide variant (nonsense +2 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 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 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 2443779	NM_005378.6(MYCN):c.173C>T (p.Thr58Met)	MYCN, MYCNOS (T58M)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3373091	NM_005378.6(MYCN):c.178C>T (p.Pro60Ser)	MYCN, MYCNOS (P60S)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GUncertain significance
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 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 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 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 280632	NM_005378.6(MYCN):c.442del (p.Gln148fs)	MYCN (Q148fs)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic
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 817685	NM_005378.6(MYCN):c.477_492dup (p.Ala165fs)	MYCN (A165fs)	Duplication (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 265250	NM_005378.6(MYCN):c.511_551del (p.Ala171fs)	MYCN (A171fs)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
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 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 13897	NM_005378.6(MYCN):c.626dup (p.Ala210fs)	MYCN (A210fs)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
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 385391	NM_005378.6(MYCN):c.681C>T (p.Ala227=)	MYCN	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
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 1304464	NM_005378.6(MYCN):c.756C>G (p.Leu252=)	MYCN	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
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 382560	NM_005378.6(MYCN):c.813A>G (p.Glu271=)	MYCN	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
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 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 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 502640	NM_005378.6(MYCN):c.1093C>G (p.Pro365Ala)	MYCN (P365A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 545970	NM_005378.6(MYCN):c.1117C>T (p.Arg373Ter)	MYCN (R373* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 265251	NM_005378.6(MYCN):c.1124_1125del (p.Asn374_Ser375insTer)	MYCN	Microsatellite (nonsense +1 more)	not provided	GPathogenic
Select item 817427	NM_005378.6(MYCN):c.1132del (p.Glu378fs)	MYCN (E167fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 13898	NM_005378.6(MYCN):c.1145G>A (p.Arg382His)	MYCN (R382H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1678801	NM_005378.6(MYCN):c.1148G>A (p.Arg383His)	MYCN (R172H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 817155	NM_005378.6(MYCN):c.1156del (p.His386fs)	MYCN (H175fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 503629	NM_005378.6(MYCN):c.1169_1178del (p.Glu390fs)	MYCN (E179fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 985302	NM_005378.6(MYCN):c.1177C>T (p.Arg393Cys)	MYCN (R182C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 13892	NM_005378.6(MYCN):c.1178G>A (p.Arg393His)	MYCN (R393H +1 more)	Single nucleotide variant (missense variant +1 more)	Feingold syndrome type 1 +1 more	GPathogenic
Select item 429866	NM_005378.6(MYCN):c.1190T>C (p.Leu397Pro)	MYCN (L397P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 372422	NM_005378.6(MYCN):c.1192C>T (p.Arg398Trp)	MYCN (R398W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 379543	NM_005378.6(MYCN):c.1196C>T (p.Ser399Phe)	MYCN (S399F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 451243	NM_005378.6(MYCN):c.1207dup (p.Thr403fs)	MYCN (T403fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 523483	NM_005378.6(MYCN):c.1226C>T (p.Pro409Leu)	MYCN (P409L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 1302690	NM_005378.6(MYCN):c.1268T>C (p.Leu423Ser)	MYCN (L212S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 373403	NM_005378.6(MYCN):c.1289T>G (p.Val430Gly)	MYCN (V430G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1311582	NM_005378.6(MYCN):c.1295C>T (p.Ser432Phe)	MYCN (S221F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1190420	NM_005378.6(MYCN):c.1309G>A (p.Glu437Lys)	MYCN (E226K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 383746	NM_005378.6(MYCN):c.1351C>T (p.Gln451Ter)	MYCN (Q451* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 420633	NM_005378.6(MYCN):c.1358_1363del (p.Gln453_Leu454del)	MYCN	Deletion (inframe_deletion +1 more)	not provided	GLikely pathogenic
Select item 3343283	NM_005378.6(MYCN):c.1358dup (p.Leu454fs)	MYCN (L243fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3366203	NM_005378.6(MYCN):c.1390T>G (p.Cys464Gly)	MYCN (C253G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1276196	NM_005378.6(MYCN):c.*250C>T	MYCN	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign

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Items: 63