"PreventionGenetics, part of Exact Sciences"[submitter] AND "MYCN"[gen - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2650691	NM_005378.6(MYCN):c.-214G>T	MYCN, MYCNOS (A21S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
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 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 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 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 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 497281	NM_005378.6(MYCN):c.8G>C (p.Ser3Thr)	MYCNOS, MYCN (S3T +1 more)	Single nucleotide variant (missense variant +1 more)	MYCN-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 516655	NM_005378.6(MYCN):c.18G>A (p.Thr6=)	MYCN, MYCNOS (V98I)	Single nucleotide variant (synonymous variant +2 more)	MYCN-related disorder +3 more	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 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 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 +1 more	GPathogenic/Likely pathogenic
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 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 517711	NM_005378.6(MYCN):c.429C>T (p.Ala143=)	MYCN	Single nucleotide variant (synonymous variant +2 more)	MYCN-related disorder +3 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 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 1985185	NM_005378.6(MYCN):c.621A>C (p.Ala207=)	MYCN	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 379273	NM_005378.6(MYCN):c.658G>T (p.Ala220Ser)	MYCN (A220S)	Single nucleotide variant (missense variant +2 more)	MYCN-related disorder +3 more	GConflicting classifications of pathogenicity
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 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 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 2416631	NM_005378.6(MYCN):c.915C>T (p.Asn305=)	MYCN	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 702007	NM_005378.6(MYCN):c.1062G>A (p.Ala354=)	MYCN	Single nucleotide variant (synonymous variant +1 more)	MYCN-related disorder +2 more	GLikely benign
Select item 502640	NM_005378.6(MYCN):c.1093C>G (p.Pro365Ala)	MYCN (P365A +1 more)	Single nucleotide variant (missense variant +1 more)	MYCN-related disorder +2 more	GBenign/Likely 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 disorder	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 disorder	GUncertain significance
Select item 702365	NM_005378.6(MYCN):c.1380C>T (p.His460=)	MYCN	Single nucleotide variant (synonymous variant +1 more)	MYCN-related disorder +2 more	GLikely benign

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Items: 27