Full data view for gene MYCN

Information The variants shown are described using the NM_005378.4 transcript reference sequence.

156 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. _1_3_ c.(-14541_-300)_(*910_*22447)del r.0 p.0 Unknown - pathogenic (dominant) g.(16066442_16080683)_(16087129_16108666)del g.(15926320_15940561)_(15947007_15968544)del del 2p24.3, hg18 15983893-16026117 - MYCN_000079 425kb deletion PubMed: Peleg 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? A068 PubMed: Peleg 2021 patient, no family history M - France - - - - - 1 Johan den Dunnen
+/. 2i_3_ c.(790+1_790+819)_(*2754_?)del r.0 p.0 Unknown - pathogenic (dominant) g.(16082977_16083795)_(16088973_?)del g.(15942855_15943673)_(15948851_?)del arr(hg19) 2p24.3(16,083,795-16,088,973)x1dn] - MYCN_000088 5.2 kb deletion exon 3 PubMed: Tedesco 2021 - - De novo - - - - - DNA arrayCGH - - NDD Fam2PatII1 PubMed: Tedesco 2021 2-generation family, 1 affected F - Italy - - - - - 1 Johan den Dunnen
+/. _1_3_ c.(?_-279430)_(*947634_?)del r.0 p.0 Maternal (confirmed) - pathogenic (dominant) g.(?_15801553)_(17033853_?)del g.(?_15661431)_(16893731_?)del arr(hg19) 2p24.3p24.2(15801553_17033853)x1 mat - MYCN_000078 1.23 Mb deletion PubMed: Tedesco 2021 - - Germline yes - - - - DNA arrayCGH, SEQ-NG - epilepsy gene panel NDD Fam3PatIII1 PubMed: Tedesco 2021 2-generation family, 3 affected (daughter/mother/grandmother F - Italy - - - - - 3 Johan den Dunnen
+/. _1_3_ c.(?_-279430)_(*947634_?)del r.0 p.0 Maternal (confirmed) - pathogenic (dominant) g.(?_15801553)_(17033853_?)del g.(?_15661431)_(16893731_?)del arr(hg19) 2p24.3p24.2(15801553_17033853)x1 mat - MYCN_000078 1.23 Mb deletion PubMed: Tedesco 2021 - - Germline yes - - - - DNA arrayCGH - - NDD Fam3PatII1 PubMed: Tedesco 2021 mother F - Italy - - - - - 1 Johan den Dunnen
+/. _1_3_ c.(?_-279430)_(*947634_?)del r.0 p.0 Unknown - pathogenic (dominant) g.(?_15801553)_(17033853_?)del g.(?_15661431)_(16893731_?)del arr(hg19) 2p24.3p24.2(15801553_17033853)x1 - MYCN_000078 1.23 Mb deletion PubMed: Tedesco 2021 - - Germline/De novo (untested) yes - - - - DNA arrayCGH - - NDD Fam3PatI1 PubMed: Tedesco 2021 maternal grandmother F - Italy - - - - - 1 Johan den Dunnen
+/. _1_3_ c.(-3198131_-1308176)_(*910_*603367)del r.0 p.0 Unknown - pathogenic (dominant) g.(12882856_14772809)_(16087129_16730732)del g.(12742730_14632685)_(15947007_16549464)del del FAM84A_MYCN - MYCN_000072 deletion TRIB2/FAM84A and MYCN/FAM49A PubMed: Marcelis 2008 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Marcelis 2008 - - - - - - - - - 1 Johan den Dunnen
+/. _1_3_ c.(-3198131_-1308176)_(*910_*603367)del r.0 p.0 Unknown - pathogenic (dominant) g.(12882856_14772809)_(16087129_16730732)del g.(12742730_14632685)_(15947007_16549464)del del FAM84A_MYCN - MYCN_000072 deletion TRIB2/FAM84A and MYCN/FAM49A PubMed: Marcelis 2008 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Marcelis 2008 - - - - - - - - - 1 Johan den Dunnen
+/. _1_3_ c.(-3198131_-1308176)_(*1877272_?)del r.0 p.0 Unknown - pathogenic (dominant) g.(12882856_14772809)_(17963491_?)del g.(12742730_14632685)_(17823369_?)del del FAM84A_MYCN_FLJ40869 - MYCN_000073 5.1Mb deletion, TRIB2/FAM84A and MYCN/FLJ40869 PubMed: Marcelis 2008 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Marcelis 2008 - - - - - - - - - 1 Johan den Dunnen
+/. _1_3_ c.(?_-440710)_(*3523277_?)del r.0 p.0 Unknown - pathogenic (dominant) g.(?_5640273)_(19609496_?)ddel g.(?_15500151)_(19469374_?)del hg19 g.15640273_19609496del - MYCN_000077 Mb deletion affecting 22 genes incl. MYCN PubMed: Muirhead 2021 SCV001754841 - De novo - - - - - DNA SEQ, SEQ-NG - trio WES ? patient PubMed: Muirhead 2021 2-generation family, 1 affected M - United States white - - - - 1 Johan den Dunnen
+/. _1_2i c.(-309750_-4602)_(790+1_791-1)del r.0? p.0? Unknown - pathogenic (dominant) g.(15771235_16076381)_(16082977_16085614)del g.(15631111_15936259)_(15942855_15945492)del del MYCNOS_MYCN exon2 - MYCN_000070 0.3Mb deletion, breakpoints between DDX1/MYCNOS and intron 2 PubMed: Marcelis 2008 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Marcelis 2008 - - - - - - - - - 1 Johan den Dunnen
+/. _1_3_ c.(-309750_-4602)_(*910_*603367)del r.0? p.0? Unknown - pathogenic (dominant) g.(15771235_16076381)_(16087129_16730732)del g.(15631111_15936259)_(15947007_16549464)del del MYCNOS_MYCN - MYCN_000071 deletion, breakpoints between DDX1/MYCNOS and MYCN/FAM49A PubMed: Marcelis 2008 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Marcelis 2008 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.-214G>T r.(?) p.(=) Unknown - likely benign g.16080769G>T g.15940647G>T MYCN(NM_001293231.2):c.61G>T (p.(Ala21Ser)) - MYCN_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-214G>T r.(?) p.(=) Unknown - likely benign g.16080769G>T - MYCN(NM_001293231.2):c.61G>T (p.(Ala21Ser)) - MYCN_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1 c.-211C>T r.(?) p.(=) Paternal (confirmed) - likely benign g.16080772C>T g.15940650C>T 64C>T (Q22X) from ATG at -274 - MYCN_000069 inherited from unaffected father; PubMed: Marcelis 2008 - - Germline no - - - - DNA SEQ - - ? family PubMed: Marcelis 2008 family, affected son/mother F;M - - - - - - - 2 Johan den Dunnen
?/. - c.-195G>C r.(?) p.(=) Unknown - VUS g.16080788G>C - MYCN(NM_001293231.2):c.80G>C (p.(Arg27Pro)) - MYCN_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-183G>C r.(?) p.(=) Unknown - VUS g.16080800G>C g.15940678G>C MYCN(NM_001293233.1):c.92G>C (p.R31P) - MYCN_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-179C>G r.(?) p.(=) Unknown - likely benign g.16080804C>G - MYCN(NM_001293233.1):c.96C>G (p.P32=) - MYCN_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-177C>T r.(?) p.(=) Unknown - likely benign g.16080806C>T - MYCN(NM_001293231.2):c.98C>T (p.(Pro33Leu)) - MYCN_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-170A>C r.(?) p.(=) Unknown - likely benign g.16080813A>C g.15940691A>C MYCN(NM_001293233.1):c.105A>C (p.P35=) - MYCN_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-129A>G r.(?) p.(=) Unknown - VUS g.16080854A>G - MYCN(NM_001293231.2):c.146A>G (p.(Gln49Arg)) - MYCN_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-118+290del r.(=) p.(=) Unknown - VUS g.16081155del - MYCN(NM_001293228.2):c.-138del - MYCN_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. _2_3_ c.(-118+1_-117-1)_(*1_?)del r.? p.0 Parent #1 - pathogenic (dominant) g.(16080866_16082069)_(16086220_?)del g.(15940744_15941947)_(15946098_?)del - - MYCN_000068 270kb deletion between STS WI-7156 and WI-1988 including MYCN and D2S2355 PubMed: Van Bokhoven 2005 - - Germline yes - - - - DNA PCR, SEQ, Southern - - ? Fam PubMed: Van Bokhoven 2005 3-generation family, 5 affected (2F, 3M) - - Netherlands - - - - - 5 Johan den Dunnen
+/. _2_3_ c.(-118+1_-117-1)_(*1_?)del r.? p.0 Parent #1 - pathogenic (dominant) g.(16080866_16082069)_(16086220_?)del g.(15940744_15941947)_(15946098_?)del - - MYCN_000068 - PubMed: Van Bokhoven 2005 - - Germline/De novo (untested) - - - - - DNA PCR, SEQ, Southern - - ? patient PubMed: Van Bokhoven 2005 patient - - - - - - - - 5 Johan den Dunnen
?/. - c.-59del r.(?) p.(=) Unknown - VUS g.16082128del - MYCN(NM_001293233.2):c.216del (p.(Gly73Valfs*484)) - MYCN_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-24A>T r.(?) p.(=) Unknown - likely benign g.16082163A>T - MYCN(NM_001293228.1):c.-24A>T (p.(=)) - MYCN_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.18G>A r.(?) p.(Thr6=) Unknown - likely benign g.16082204G>A g.15942082G>A MYCN(NM_001293233.1):c.292G>A (p.V98I) - MYCN_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.90G>C r.(?) p.(Pro30=) Unknown - likely benign g.16082276G>C g.15942154G>C MYCN(NM_005378.5):c.90G>C (p.P30=) - MYCN_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.109T>A r.(?) p.(Phe37Ile) Unknown - VUS g.16082295T>A - MYCN(NM_005378.6):c.109T>A (p.F37I) - MYCN_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.111C>A r.(?) p.(Phe37Leu) Unknown - likely benign g.16082297C>A g.15942175C>A MYCN(NM_001293228.1):c.111C>A (p.F37L) - MYCN_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.134dup r.(?) p.(Glu47GlyfsTer8) Unknown - pathogenic g.16082320dup g.15942198dup MYCN(NM_001293228.2):c.134dupC (p.E47Gfs*8) - MYCN_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.134dup r.(?) p.(Glu47GlyfsTer8) Unknown - pathogenic (dominant) g.16082320dup g.15942198dup 134dupC - MYCN_000035 - PubMed: Marcelis 2008 - - De novo - - - - - DNA SEQ - - ? - PubMed: Marcelis 2008 - - - - - - - - - 1 Johan den Dunnen
+/. - c.134dup r.(?) p.(Glu47GlyfsTer8) Parent #1 - pathogenic (dominant) g.16082320dup g.15942198dup 134dupC - MYCN_000035 - PubMed: Peleg 2021 - - De novo - - - - - DNA SEQ - - ? A067 PubMed: Peleg 2021 patient, family history F - France - - - - - 1 Johan den Dunnen
+/. - c.173C>T r.(?) p.(Thr58Met) Unknown - pathogenic (dominant) g.16082359C>T g.15942237C>T - - MYCN_000075 gain of function variant PubMed: Kato 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES ? patient PubMed: Kato 2019 2-generation family, 1 affected, unaffected non-carrier parents M no Japan - - - - - 1 Johan den Dunnen
+/. - c.173C>T r.(?) p.(Thr58Met) Unknown - pathogenic (dominant) g.16082359C>T g.15942237C>T - - MYCN_000075 - PubMed: Nishio 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Pat2 PubMed: Nishio 2023 2-generation family, 1 affected, unaffected non-carrier parents M no Japan - - - - - 1 Johan den Dunnen
+/. - c.179C>T r.(?) p.(Pro60Leu) Unknown - pathogenic (dominant) g.16082365C>T g.15942243C>T - - MYCN_000076 gain of function variant PubMed: Nishio 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES ? Pat1 PubMed: Nishio 2023 2-generation family, affected fetus - no France - - - - - 1 Johan den Dunnen
+/. - c.204_205del r.(?) p.(Glu69AlafsTer15) Unknown - pathogenic g.16082390_16082391del g.15942268_15942269del MYCN(NM_001293228.2):c.204_205delGG (p.E69Afs*15) - MYCN_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.204_205del r.(?) p.(Glu69AlafsTer15) Unknown - pathogenic g.16082390_16082391del - MYCN(NM_001293228.2):c.204_205delGG (p.E69Afs*15) - MYCN_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.207G>A r.(?) p.(Glu69=) Unknown - likely benign g.16082393G>A g.15942271G>A MYCN(NM_005378.5):c.207G>A (p.E69=) - MYCN_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.217G>T r.(?) p.(Glu73Ter) Unknown - pathogenic (dominant) g.16082403G>T g.15942281G>T - - MYCN_000080 - PubMed: Teszas 2006 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Teszas 2006 3-generation family, 11 affected (7F, 4M) M - Hungary - - - - - 3 Johan den Dunnen
+/. - c.217G>T r.(?) p.(Glu73Ter) Maternal (confirmed) - pathogenic (dominant) g.16082403G>T g.15942281G>T - - MYCN_000080 - PubMed: Teszas 2006 - - Germline - - - - - DNA SEQ - - ? - PubMed: Teszas 2006 mother F - Hungary - - - - - 1 Johan den Dunnen
+/. - c.217G>T r.(?) p.(Glu73Ter) Maternal (confirmed) - pathogenic (dominant) g.16082403G>T g.15942281G>T - - MYCN_000080 - PubMed: Teszas 2006 - - Germline - - - - - DNA SEQ - - ? - PubMed: Teszas 2006 maternal grandmother F - Hungary - - - - - 1 Johan den Dunnen
+/. 2 c.217G>T r.(?) p.(Glu73Ter) Unknown - pathogenic (dominant) g.16082403G>T g.15942281G>T - - MYCN_000080 - PubMed: Marcelis 2008 - - Germline yes - - - - DNA SEQ - - ? family PubMed: Marcelis 2008 family, affected son/mother F;M - - - - - - - 2 Johan den Dunnen
-?/. - c.227G>T r.(?) p.(Ser76Ile) Unknown - likely benign g.16082413G>T - MYCN(NM_005378.4):c.227G>T (p.(Ser76Ile)) - MYCN_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.231G>A r.(?) p.(Trp77Ter) Unknown - pathogenic (dominant) g.16082417G>A g.15942295G>A - - MYCN_000081 - PubMed: Marcelis 2008 - - Germline yes - - - - DNA SEQ - - ? - PubMed: Marcelis 2008 family - - - - - - - - 1 Johan den Dunnen
+?/. - c.266dup r.(?) p.(Ser90GlnfsTer176) Maternal (confirmed) - pathogenic (dominant) g.16082452dup g.15942330dup hg19 16082448T>TG - MYCN_000046 - PubMed: Klaniewska 2021 - - Germline yes - - - - DNA SEQ-NG-I - - FGLDS1 family PubMed: Klaniewska 2021, 3-generation family, 5 affected (2 brothers/sister/mother/maternal grandfather) F;M - Poland - - - - - 5 Rafał Płoski
-?/. - c.279G>C r.(?) p.(Glu93Asp) Unknown - likely benign g.16082465G>C g.15942343G>C MYCN(NM_005378.4):c.279G>C (p.(Glu93Asp)), MYCN(NM_005378.5):c.279G>C (p.E93D) - MYCN_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.279G>C r.(?) p.(Glu93Asp) Unknown - VUS g.16082465G>C - MYCN(NM_005378.4):c.279G>C (p.(Glu93Asp)), MYCN(NM_005378.5):c.279G>C (p.E93D) - MYCN_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.302del r.(?) p.(Gly101AspfsTer30) Unknown - pathogenic (dominant) g.16082488del g.15942366del 302delG - MYCN_000082 - PubMed: Marcelis 2008 - - De novo - - - - - DNA SEQ - - ? - PubMed: Marcelis 2008 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.311G>A r.(?) p.(Gly104Asp) Unknown - likely benign g.16082497G>A g.15942375G>A MYCN(NM_001293228.1):c.311G>A (p.G104D) - MYCN_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.394G>T r.(?) p.(Glu132Ter) Unknown - pathogenic g.16082580G>T - MYCN(NM_001293228.2):c.394G>T (p.E132*) - MYCN_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.430G>A r.(?) p.(Gly144Ser) Unknown - likely benign g.16082616G>A g.15942494G>A MYCN(NM_001293228.1):c.430G>A (p.G144S) - MYCN_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.451G>C r.(?) p.(Gly151Arg) Unknown - VUS g.16082637G>C g.15942515G>C MYCN(NM_001293228.1):c.451G>C (p.G151R), MYCN(NM_005378.5):c.451G>C (p.G151R) - MYCN_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.451G>T r.(?) p.(Gly151Ter) Unknown - pathogenic (dominant) g.16082637G>T g.15942515G>T - - MYCN_000083 - PubMed: Marcelis 2008 - - De novo - - - - - DNA SEQ - - ? - PubMed: Marcelis 2008 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.470C>T r.(?) p.(Pro157Leu) Unknown - likely benign g.16082656C>T - MYCN(NM_005378.4):c.470C>T (p.(Pro157Leu)) - MYCN_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.477_517del r.(?) p.(Gly161ProfsTer91) Parent #1 - pathogenic (dominant) g.16082663_16082703del g.15942541_15942581del 474_514del - MYCN_000084 - PubMed: Peleg 2021 - - De novo - - - - - DNA SEQ - - ? A060 PubMed: Peleg 2021 patient, family history F - France - - - - - 1 Johan den Dunnen
-?/. - c.499G>A r.(?) p.(Gly167Arg) Unknown - likely benign g.16082685G>A g.15942563G>A MYCN(NM_005378.4):c.499G>A (p.(Gly167Arg)) - MYCN_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.499G>T r.(?) p.(Gly167*) Unknown - pathogenic g.16082685G>T - MYCN(NM_001293228.2):c.499G>T (p.G167*) - MYCN_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.500G>A r.(?) p.(Gly167Glu) Unknown - likely benign g.16082686G>A - MYCN(NM_005378.4):c.500G>A (p.(Gly167Glu)) - MYCN_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.501A>G r.(?) p.(Gly167=) Unknown - likely benign g.16082687A>G g.15942565A>G MYCN(NM_005378.5):c.501A>G (p.G167=) - MYCN_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.509G>C r.(?) p.(Arg170Pro) Unknown - likely benign g.16082695G>C - MYCN(NM_005378.4):c.509G>C (p.(Arg170Pro)) - MYCN_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.511_551del r.(?) p.(Ala171ArgfsTer81) Paternal (confirmed) - likely pathogenic (dominant) g.16082697_16082737del g.15942575_15942615del 503_543del - MYCN_000085 - PubMed: Tedesco 2021 VCV000265250.2 - Germline yes - - - - DNA SEQ, SEQ-NG - - NDD Fam1PatIII1 PubMed: Tedesco 2021 2-generation family, affected son/father M - Italy - - - - - 2 Johan den Dunnen
+?/. - c.511_551del r.(?) p.(Ala171ArgfsTer81) Unknown - likely pathogenic (dominant) g.16082697_16082737del g.15942575_15942615del 503_543del - MYCN_000085 - PubMed: Tedesco 2021 - - Germline/De novo (untested) yes - - - - DNA SEQ, SEQ-NG - - NDD Fam1PatII1 PubMed: Tedesco 2021 father M - Italy - - - - - 1 Johan den Dunnen
-?/. - c.517G>A r.(?) p.(Ala173Thr) Unknown - likely benign g.16082703G>A - MYCN(NM_005378.4):c.517G>A (p.(Ala173Thr)) - MYCN_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.535C>G r.(?) p.(Leu179Val) Unknown - VUS g.16082721C>G - MYCN(NM_005378.6):c.535C>G (p.L179V) - MYCN_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.626dup r.(?) p.(Ala210GlyfsTer56) Unknown - pathogenic (dominant) g.16082812dup g.15942690dup 626dupC (A310GfsX58) - MYCN_000074 - PubMed: Blaumeister 2008 - - De novo - - - - - DNA SEQ - - ? Pat1 PubMed: Blaumeister 2008 2-generation family, 1 affected, unaffected non-carrier parents F no Belgium Turkey - - - - 1 Johan den Dunnen
-?/. - c.658G>C r.(?) p.(Ala220Pro) Unknown - likely benign g.16082844G>C g.15942722G>C MYCN(NM_005378.5):c.658G>C (p.A220P) - MYCN_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.658G>T r.(?) p.(Ala220Ser) Unknown - likely benign g.16082844G>T - MYCN(NM_005378.4):c.658G>T (p.(Ala220Ser)) - MYCN_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.662C>A r.(?) p.(Ser221Ter) Unknown - pathogenic (dominant) g.16082848C>A g.15942726C>A - - MYCN_000086 - PubMed: Marcelis 2008 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Marcelis 2008 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.683del r.(?) p.(Pro228GlnfsTer33) Unknown - pathogenic (dominant) g.16082869del g.15942747del 683delC - MYCN_000087 - PubMed: Marcelis 2008 - - De novo - - - - - DNA SEQ - - ? - PubMed: Marcelis 2008 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.713G>C r.(?) p.(Arg238Pro) Unknown - likely benign g.16082899G>C - MYCN(NM_005378.4):c.713G>C (p.(Arg238Pro)) - MYCN_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.753C>T r.(?) p.(Ala251=) Unknown - likely benign g.16082939C>T g.15942817C>T MYCN(NM_005378.5):c.753C>T (p.A251=) - MYCN_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.799G>T r.(?) p.(Asp267Tyr) Unknown - VUS g.16085623G>T g.15945501G>T MYCN(NM_001293228.2):c.799G>T (p.D267Y) - MYCN_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.807_809del r.(?) p.(Glu271del) Unknown - VUS g.16085631_16085633del g.15945509_15945511del MYCN(NM_005378.5):c.807_809delAGA (p.E271del) - MYCN_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.816T>G r.(?) p.(Asp272Glu) Unknown - VUS g.16085640T>G g.15945518T>G MYCN(NM_005378.4):c.816T>G (p.(Asp272Glu)) - MYCN_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.836_837dup r.(?) p.(Val280TrpfsTer40) Unknown - pathogenic (dominant) g.16085660_16085661dup g.15945538_15945539dup - - MYCN_000089 - PubMed: Marcelis 2008 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Marcelis 2008 - - - - - - - - - 1 Johan den Dunnen
+/. - c.881_882dup r.(?) p.(Thr295SerfsTer25) Unknown - pathogenic (dominant) g.16085705_16085706dup g.15945583_15945584dup 882_883insTC - MYCN_000090 - PubMed: Van Bokhoven 2005 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Van Bokhoven 2005 patient - - - - - - - - 1 Johan den Dunnen
+/. 3 c.881_882dup r.(?) p.(Thr295SerfsTer25) Unknown - pathogenic (dominant) g.16085705_16085706dup g.15945583_15945584dup - - MYCN_000090 - PubMed: Marcelis 2008 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Marcelis 2008 - - - - - - - - - 1 Johan den Dunnen
+/. - c.915_916insT r.(?) p.(Ala306CysfsTer37) Unknown - pathogenic (dominant) g.16085739_16085740insT g.15945617_15945618insT - - MYCN_000091 - PubMed: Van Bokhoven 2005 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Van Bokhoven 2005 patient - - - - - - - - 1 Johan den Dunnen
+/. 3 c.915_916insT r.(?) p.(Ala306CysfsTer37) Unknown - pathogenic (dominant) g.16085739_16085740insT g.15945617_15945618insT - - MYCN_000091 - PubMed: Marcelis 2008 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Marcelis 2008 - - - - - - - - - 1 Johan den Dunnen
?/. - c.920C>T r.(?) p.(Ala307Val) Unknown - VUS g.16085744C>T g.15945622C>T MYCN(NM_005378.5):c.920C>T (p.A307V) - MYCN_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.926_927dup r.(?) p.(Pro310ValfsTer10) Unknown - pathogenic (dominant) g.16085750_16085751dup g.15945628_15945629dup 928_930insGT - MYCN_000092 - PubMed: Peleg 2021 - - De novo - - - - - DNA SEQ - - ? A056 PubMed: Peleg 2021 patient, no family history M - France - - - - - 1 Johan den Dunnen
+?/. - c.940C>T r.(?) p.(Gln314*) Unknown - likely pathogenic g.16085764C>T - - - MYCN_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.964C>T r.(?) p.(Arg322*) Unknown - pathogenic g.16085788C>T - - - MYCN_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.964C>T r.(?) p.(Arg322Ter) Unknown - pathogenic (dominant) g.16085788C>T g.15945666C>T - - MYCN_000043 - PubMed: Van Bokhoven 2005 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Van Bokhoven 2005 patient - - - - - - - - 1 Johan den Dunnen
+/. 3 c.964C>T r.(?) p.(Arg322Ter) Unknown - pathogenic (dominant) g.16085788C>T g.15945666C>T - - MYCN_000043 - PubMed: Marcelis 2008 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Marcelis 2008 - - - - - - - - - 1 Johan den Dunnen
+/. 3 c.964C>T r.(?) p.(Arg322Ter) Unknown - pathogenic (dominant) g.16085788C>T g.15945666C>T - - MYCN_000043 - PubMed: Marcelis 2008 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Marcelis 2008 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1005del r.(?) p.(Ser336LeufsTer15) Unknown - pathogenic (dominant) g.16085829del g.15945707del 1005delC - MYCN_000093 - PubMed: Van Bokhoven 2005 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Van Bokhoven 2005 patient - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1005del r.(?) p.(Ser336LeufsTer15) Unknown - pathogenic (dominant) g.16085829del g.15945707del 1005delC - MYCN_000093 - PubMed: Marcelis 2008 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Marcelis 2008 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.1062G>A r.(?) p.(Ala354=) Unknown - likely benign g.16085886G>A g.15945764G>A MYCN(NM_005378.5):c.1062G>A (p.A354=) - MYCN_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1093C>G r.(?) p.(Pro365Ala) Unknown - VUS g.16085917C>G g.15945795C>G MYCN(NM_005378.5):c.1093C>G (p.P365A) - MYCN_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.1097dup r.(?) p.(Ala367GlyfsTer2) Unknown - pathogenic (dominant) g.16085921dup g.15945799dup 1097dupA - MYCN_000094 - PubMed: Marcelis 2008 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Marcelis 2008 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1105_1106dup r.(?) p.(Ser369ArgfsTer3) Unknown - pathogenic (dominant) g.16085929_16085930dup g.15945807_15945808dup 1106_1107insAG - MYCN_000095 - PubMed: Van Bokhoven 2005 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Van Bokhoven 2005 patient - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1105_1106dup r.(?) p.(Ser369ArgfsTer3) Unknown - pathogenic (dominant) g.16085929_16085930dup g.15945807_15945808dup - - MYCN_000095 - PubMed: Marcelis 2008 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Marcelis 2008 - - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1105_1106dup r.(?) p.(Ser369ArgfsTer3) Unknown - pathogenic (dominant) g.16085929_16085930dup g.15945807_15945808dup - - MYCN_000095 - PubMed: Marcelis 2008 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Marcelis 2008 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1110dup r.(?) p.(Ser371GlufsTer6) Unknown - pathogenic (dominant) g.16085934dup g.15945812dup 1110insG - MYCN_000096 - PubMed: Peleg 2021 - - De novo - - - - - DNA SEQ - - ? AO37 PubMed: Peleg 2021 patient, no family history M - France - - - - - 1 Johan den Dunnen
+?/. 3 c.1117C>T r.(?) p.(Arg373Ter) Unknown ACMG likely pathogenic (dominant) g.16085941C>T g.15945819C>T - - MYCN_000067 PVS1_strong, PS2, PM2_supporting; Detected in at least 3 individuals in de novo constellation and several other individuals with Feingold syndrome; PMID:15821734, 18470948, 33442900, 35620261, 32250545 - - - De novo ? - - - - DNA SEQ-NG-I Blood - FGLDS1 367091 - - M no Lebanon - - - - - 1 Andreas Laner
+/. - c.1117C>T r.(?) p.(Arg373Ter) Parent #1 - pathogenic (dominant) g.16085941C>T g.15945819C>T - - MYCN_000067 - PubMed: Van Bokhoven 2005 - - Germline - - - - - DNA SEQ - - ? - PubMed: Van Bokhoven 2005 3-generation family, 11 affected (7F, 4M) - - - - - - - - 11 Johan den Dunnen
+/. - c.1117C>T r.(?) p.(Arg373Ter) Unknown - pathogenic (dominant) g.16085941C>T g.15945819C>T - - MYCN_000067 - PubMed: Van Bokhoven 2005 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Van Bokhoven 2005 patient - - - - - - - - 1 Johan den Dunnen
+/. - c.1117C>T r.(?) p.(Arg373Ter) Unknown - pathogenic (dominant) g.16085941C>T g.15945819C>T - - MYCN_000067 - PubMed: Van Bokhoven 2005 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Van Bokhoven 2005 patient - - - - - - - - 1 Johan den Dunnen
+/. 3 c.1117C>T r.(?) p.(Arg373Ter) Unknown - pathogenic (dominant) g.16085941C>T g.15945819C>T - - MYCN_000067 - PubMed: Marcelis 2008 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Marcelis 2008 - - - - - - - - - 1 Johan den Dunnen
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