ClinVar for MedGen (Select 1637716) - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 1705449	NM_005378.6(MYCN):c.1319T>C (p.Leu440Pro)	MYCN (L229P +1 more)	Single nucleotide variant (missense variant +1 more)	Feingold syndrome type 1	GUncertain significance
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 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 1564664	NM_005378.6(MYCN):c.612C>T (p.Pro204=)	MYCN	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
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 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 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 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 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 817596	NM_005378.6(MYCN):c.134dup (p.Glu47fs)	MYCN, MYCNOS (E47fs)	Duplication (non-coding transcript variant +3 more)	Feingold syndrome type 1 +1 more	GPathogenic
Select item 703188	NM_005378.6(MYCN):c.279G>A (p.Glu93=)	MYCN, MYCNOS	Single nucleotide variant (non-coding transcript variant +3 more)	not provided +1 more	GLikely benign
Select item 702365	NM_005378.6(MYCN):c.1380C>T (p.His460=)	MYCN	Single nucleotide variant (synonymous variant +1 more)	Feingold syndrome type 1 +2 more	GLikely benign
Select item 702007	NM_005378.6(MYCN):c.1062G>A (p.Ala354=)	MYCN	Single nucleotide variant (synonymous variant +1 more)	Feingold syndrome type 1 +2 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 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 517759	NM_005378.6(MYCN):c.69G>T (p.Ser23=)	MYCNOS, MYCN	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 517711	NM_005378.6(MYCN):c.429C>T (p.Ala143=)	MYCN	Single nucleotide variant (synonymous variant +2 more)	not specified +3 more	GLikely benign
Select item 516655	NM_005378.6(MYCN):c.18G>A (p.Thr6=)	MYCN, MYCNOS (V98I)	Single nucleotide variant (synonymous variant +2 more)	not specified +3 more	GLikely benign
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 433153	NM_005378.6(MYCN):c.1181G>T (p.Arg394Leu)	MYCN (R394L +1 more)	Single nucleotide variant (missense variant +1 more)	Feingold syndrome type 1 +1 more	GConflicting classifications of pathogenicity
Select item 433152	NM_005378.6(MYCN):c.1061dup (p.Ser355fs)	MYCN (S355fs +1 more)	Duplication (frameshift variant +1 more)	Feingold syndrome type 1	GPathogenic
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	GPathogenic
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 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 196409	NM_005378.6(MYCN):c.801_809del	MYCN	Microsatellite	not provided +1 more	GUncertain significance
Select item 13898	NM_005378.6(MYCN):c.1145G>A (p.Arg382His)	MYCN (R382H +1 more)	Single nucleotide variant (missense variant +1 more)	Feingold syndrome type 1	GPathogenic
Select item 13897	NM_005378.6(MYCN):c.626dup (p.Ala210fs)	MYCN (A210fs)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
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
Select item 13894	NM_005378.6(MYCN):c.1181G>A (p.Arg394His)	MYCN (R394H +1 more)	Single nucleotide variant (missense variant +1 more)	Feingold syndrome type 1	GPathogenic
Select item 13893	NM_005378.6(MYCN):c.1177C>A (p.Arg393Ser)	MYCN (R393S +1 more)	Single nucleotide variant (missense variant +1 more)	Feingold syndrome type 1	GPathogenic
Select item 13892	NM_005378.6(MYCN):c.1178G>A (p.Arg393His)	MYCN (R393H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic

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Items: 51