4613[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129932995, LOC129932996 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806176, LOC126806177 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	LOC129933180, LOC129933181 +498 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	ACP1, ADAM17 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933242, LOC129933243 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	LOC126806154, LOC126806155 +546 more	Copy number gain	See cases	GPathogenic
Select item 60105	GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)x1	ADAM17, ASAP2 +297 more	Copy number loss	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 545241	NC_000002.12:g.(?_11177745)_(16113827_?)del	MYCNUT, NBAS +100 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 147945	GRCh38/hg38 2p24.3(chr2:13664310-16228425)x1	DDX1, GACAT3 +25 more	Copy number loss	See cases	GPathogenic
Select item 145383	GRCh38/hg38 2p24.3(chr2:14715345-16305738)x3	DDX1, GACAT3 +17 more	Copy number gain	See cases	GUncertain significance
Select item 2650691	NM_005378.6(MYCN):c.-214G>T	MYCNOS, MYCN (A21S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely 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 2629799	NM_005378.6(MYCN):c.-178C>A	MYCN, MYCNOS (P33T)	Single nucleotide variant (5 prime UTR variant +1 more)	MYCN-related condition	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 condition	GLikely benign
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 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 3030404	NM_005378.6(MYCN):c.-133C>T	MYCN, MYCNOS	Single nucleotide variant (5 prime UTR variant +1 more)	MYCN-related condition	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 3043922	NM_005378.6(MYCN):c.-101C>T	MYCN, MYCNOS	Single nucleotide variant (5 prime UTR variant +2 more)	MYCN-related condition	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 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 2629965	NM_005378.6(MYCN):c.-27C>T	MYCN, MYCNOS (P83L)	Single nucleotide variant (5 prime UTR variant +2 more)	MYCN-related condition	GUncertain significance
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)	Feingold syndrome type 1	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 +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)	not specified +3 more	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 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 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 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 279969	NM_005378.6(MYCN):c.73C>T (p.Gln25Ter)	MYCNOS, MYCN (Q25*)	Single nucleotide variant (nonsense +2 more)	not provided	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 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 2650694	NM_005378.6(MYCN):c.111C>A (p.Phe37Leu)	MYCNOS, MYCN (F37L)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GLikely benign
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 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 3032222	NM_005378.6(MYCN):c.129C>A (p.Thr43=)	MYCN, MYCNOS	Single nucleotide variant (non-coding transcript variant +3 more)	MYCN-related condition	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 condition	GUncertain significance
Select item 376460	NM_005378.6(MYCN):c.131C>T (p.Pro44Leu)	MYCN, MYCNOS (P44L)	Single nucleotide variant (non-coding transcript variant +3 more)	Medulloblastoma +4 more	GLikely pathogenic
Select item 703646	NM_005378.6(MYCN):c.141G>A (p.Glu47=)	MYCN, MYCNOS	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GLikely benign
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 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)	Megalencephaly-polydactyly syndrome +1 more	GPathogenic/Likely pathogenic
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 797178	NM_005378.6(MYCN):c.189C>A (p.Pro63=)	MYCNOS, MYCN	Single nucleotide variant (synonymous variant +3 more)	not provided	GBenign
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 1209962	NM_005378.6(MYCN):c.204_205del (p.Glu69fs)	MYCN, MYCNOS (E69fs)	Deletion (frameshift variant +3 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 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 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 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 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 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 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 642491	NM_005378.6(MYCN):c.256G>C (p.Glu86Gln)	MYCN, MYCNOS (E86Q)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
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 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 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 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 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 2635585	NM_005378.6(MYCN):c.302dup (p.Leu102fs)	MYCN, MYCNOS (L102fs)	Duplication (non-coding transcript variant +3 more)	MYCN-related condition	GLikely pathogenic
Select item 2407622	NM_005378.6(MYCN):c.302G>A (p.Gly101Glu)	MYCN, MYCNOS (G101E)	Single nucleotide variant (non-coding transcript variant +3 more)	Inborn genetic diseases +1 more	GUncertain significance
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 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 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 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 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 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 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 3032539	NM_005378.6(MYCN):c.377T>C (p.Leu126Pro)	MYCN (L126P)	Single nucleotide variant (missense variant +2 more)	MYCN-related condition	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)	not specified +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 condition	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 condition	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 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 (3 prime UTR variant +2 more)	not provided	GBenign

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