Unique variants in the NF1 gene

Information The variants shown are described using the NM_000267.3 transcript reference sequence.

3596 entries on 36 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Type/DNA     

Predicted     

P-domain     

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     

Owner     
+/+ 1 _1_1i c.-12763_60+3074del r.0? p.0? deletion, large deletion, large - - pathogenic g.29409588_29425484del g.31082570_31098466del -12763_60+3074del15897 p.(Met1?) - NF1_001389 - - - - Unknown - - - - - Rick van Minkelen
+/+ 1 _1_1i c.-12290_60+5397del r.0? p.0? deletion, large deletion, large - - pathogenic g.29410038_29427784del g.31083020_31100766del -12290_60+5397del17747 p.Met1? - NF1_000030 - - - - Unknown - - - - - Rick van Minkelen
+/+ 1 _1_1i c.-1614_60+1946del r.0? p.0? deletion, large deletion, large - - pathogenic g.29420714_29424333del g.31093696_31097315del -1614_60+1946del3620 p.Met1? - NF1_000080 - - - - Unknown - - - - - Rick van Minkelen
+/+ 1 _1_1i c.-1614_60+3419del r.0? p.0? deletion, large deletion, large - - pathogenic g.29420714_29425806del g.31093696_31098788del -1614_60+3419del5093 p.Met1? - NF1_000081 - - - - Germline - - - - - Rick van Minkelen
+/+ 1 _1_1i c.-1486_60+3546del r.0? p.0? deletion, large deletion, large - - pathogenic g.29420842_29425933del g.31093824_31098915del -1486_60+3546del5092 p.(Met1?) - NF1_001837 - - - - Unknown - - - - - Rick van Minkelen
+/+ 1 _1_1 c.-915_-262del r.0? p.0? - - - - pathogenic g.29421413_29422066del g.31094395_31095048del - - NF1_002259 - - - - Germline - - - - - Rick van Minkelen
+/+ 1 - c.-718_8375del r.0? p.0? deletion, large deletion, large - - pathogenic g.29421610_29701091del - - - NF1_003723 - PubMed: Santoro 2021 - - De novo - - - - - Giulio Piluso
?/? 2 1 c.-272G>A r.(?) p.(=) substitution other/complex - - VUS g.29422056G>A g.31095038G>A - - NF1_002232 - - - - Unknown - - - - - Glenda Beaman
?/? 1 1 c.-272G>C r.(?) p.(=) substitution other/complex - - VUS g.29422056G>C g.31095038G>C - - NF1_002233 - - - - Unknown - - - - - Glenda Beaman
-/. 1 - c.-205_-204insT r.(?) p.(=) - - - - benign g.29422123_29422124insT - NF1(NM_000267.3):c.-205_-204insT - EVI2A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 _1_58_ c.(?_-50)_(*68_?)del r.0? p.0? deletion deletion, large - ACMG likely pathogenic g.(?_29422278)_(29701241_?)del - - - NF1_002518 1 more item - - - Germline ? - - - - Andreas Laner
?/., ?/? 3 1 c.-27C>T r.(?) p.(=), p.0? substitution splicing affected - - VUS g.29422301C>T g.31095283C>T NF1(NM_000267.3):c.-27C>T, p.Met1? - NF1_000250 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Rick van Minkelen, VKGL-NL_Rotterdam
-/-, -/. 2 1 c.-22G>C r.(?) p.(=), p.0? substitution - - - benign g.29422306G>C g.31095288G>C NF1(NM_000267.3):c.-22G>C, p.Met1? - NF1_001000 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Unknown - - - - - Rick van Minkelen, VKGL-NL_Rotterdam
+/+ 4 _1_1i c.(?_-1)_(60+1_61-1)del r.0? p.0? deletion, large deletion, large - - pathogenic g.(?_29422327)_(29422388_29483000)del - 1-?_60+?del - NF1_001687 Deletion of exon 1 and NF1 promotor ND (Imbard, Submitted) - - Germline, Unknown - - - - - Beatrice Parfait
+/+ 1 _1_29i c.(?_-1)_(3974+1_3975-1)del r.0? p.0? deletion, large deletion, large - - pathogenic g.(?_29422327)_(29563040_29576001)del - 1-?_3974+?del - NF1_001483 Deletion of exons 1 to 29 ND (Pasmant, Submitted) - - Unknown - - - - - Beatrice Parfait
+/+ 1 _1_35i c.(?_-1)_(4661+1_4662-1)del r.0? p.0? deletion, large deletion, large - - pathogenic g.(?_29422327)_(29588876_29592246)del - 1-?_4661+?del - NF1_001688 Deletion of exons 1 to 35 ND (Imbard, Submitted) - - De novo - - - - - Beatrice Parfait
+/+ 98 _1_58_ c.(?_-1)_(*1_?)del r.0? p.0, p.0? deletion, large deletion, large - - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 mosaic, patient with JMML - - - De novo, Germline, Somatic, Unknown - - - - - Rick van Minkelen, Kristina Karandasheva
+/+ 2 31i_36i c.(4110+4111-1)_(4772+1_4773-1)del r.? p.? deletion, large, other/complex deletion, large, other/complex - - pathogenic g.(29576138_29585361)_(29592358_29652837)del - 4111-?_4772+?del;7127-?_8457+?del - NF1_001550 complex rearrangement with one copy of exons 32 to 36 and one copy of exons 49 to 58, 1 more item ND (Imbard, Submitted), ND (Pasmant, Submitted) - - Unknown - - - - - Beatrice Parfait
+/+ 1 1 c.(?) r.(?) p.(?) deletion deletion, large - - pathogenic g.(27610791_29437821)del - Atypic deletion intron2 NUFIP2_intron1NF1 - NF1_002861 1,8 Mb deletion (Array-CGH) - - - Germline - - Meoli_NF1 - - Marica Eoli
?/+ 1 _1_58_ c.-383_*3522[0] r.0 p.0 deletion deletion, large - - pathogenic (dominant) g.(28789443_29058391)_(30315433_30693753)del - complete gene deletion - NF1_002874 - - - - De novo - - - - - Lan Kluwe
+/. 1 _1_58_ c.-383_*3522{0} r.0 p.0 - - - ACMG pathogenic g.(?_29107486)_(30324390_?)del - - - NF1_003756 - - - - De novo - - - - - Andri Miltiadous
+/+ 1 38i_40i c.5546+336_5943+2xxdel r.5547_5943del p.Ser1850Leufs deletion, large deletion, large - - pathogenic g.? - - - NF1_001796 NHEJ or FoSTeS/MMBIR x 1, mosaic PubMed: Hsiao 2015 - - Somatic - - - - - Ludwine Messiaen
+/+ 1 38i_40i c.5547-961+5943+2xxdel r.5547_5943del p.Ser1850Leufs deletion, large deletion, large - - pathogenic g.? - - - NF1_001797 NHEJ or FoSTeS/MMBIR x 1 PubMed: Hsiao 2015 - - De novo - - - - - Ludwine Messiaen
+/+ 1 39i_40i c.5749+750_5943+2xxdel r.5750_5943del p.Ser1917Asnfs deletion, large deletion, large - - pathogenic g.? - - - NF1_001799 NHEJ or FoSTeS/MMBIR x 1 PubMed: Hsiao 2015 - - De novo - - - - - Ludwine Messiaen
+/+ 1 39i_40i c.5750-1086_5943+2xxdel r.5750_5943del p.Ser1917Asnfs deletion, large deletion, large - - pathogenic g.? - - - NF1_001800 NHEJ or FoSTeS/MMBIR x 1 PubMed: Hsiao 2015 - - De novo - - - - - Ludwine Messiaen
+/+ 1 39i_40i c.5750-460_5943+2xxdel r.5750_5943del p.Ser1917Asnfs deletion, large deletion, large - - pathogenic g.? - - - NF1_001798 NHEJ or FoSTeS/MMBIR x 1, mosaic PubMed: Hsiao 2015 - - Somatic - - - - - Ludwine Messiaen
+/+ 1 40i_47i c.5943+2xx_7000-999delins(15) r.5750_6999del p.Ser1917Lysfs deletion, large deletion, large - - pathogenic g.? - - - NF1_001805 Serial replication stalling PubMed: Hsiao 2015 - - Germline - - - - - Ludwine Messiaen
+/+ 1 _1_1i c.?_(60+1_61-1)del r.0? p.0? deletion, large deletion, large - - pathogenic g.?_(29422388_29483000)del - ?_60+?del - NF1_001738 - ND (Bianchessi and Morosini, submitted) - - Germline - - - - - Donatella Bianchessi
+/+ 1 1i_3i c.[61-2014_289-890del(;)205-683-205-261inv] r.(?) p.? other/complex other/complex - - pathogenic g.? - [61-2014_289-890del8328(;)205-683-205-261inv423] - NF1_001387 - - - - Unknown - - - - - Rick van Minkelen
+/+ 1 1i_8i c.[61-24784_775delins(4);586+5343_586+5959inv] r.(?) p.? other/complex other/complex - - pathogenic g.? - [61-24784_775del51354ins4;586+5343_586+5959inv617] - NF1_000003 - - - - Unknown - - - - - Rick van Minkelen
+/+, +/. 6 1 c.1A>G r.(?), r.1a>g p.(Met1?), p.0? substitution missense - - pathogenic g.29422328A>G g.31095310A>G (Met1Val), Met1?, NF1(NM_000267.3):c.1A>G (p.M1?) - NF1_000140 VKGL data sharing initiative Nederland PubMed: Brinckmann 2007 - - CLASSIFICATION record, De novo, Germline, Unknown - - - - - Beatrice Parfait, Rick van Minkelen, VKGL-NL_Rotterdam
+/+ 1 1 c.1A>T r.(?) p.0? - - - - pathogenic g.29422328A>T g.31095310A>T - - NF1_002260 - - - - Germline - - - - - Rick van Minkelen
+?/+?, ?/. 2 1 c.2T>A r.(?) p.(Met1?), p.0? substitution missense - - VUS g.29422329T>A g.31095311T>A (Met1Lys), NF1(NM_000267.3):c.2T>A (p.M1?) - NF1_001861 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Unknown - - - - - Rick van Minkelen, VKGL-NL_Rotterdam
+/+ 1 1 c.3G>A r.3g>a p.0? substitution - - - pathogenic g.29422330G>A g.31095312G>A Met1? - NF1_001130 - PubMed: Sabbagh 2013 - - Germline - - - - - Beatrice Parfait
+/+ 1 1 c.3G>T r.3g>u p.0? substitution - - - pathogenic g.29422330G>T g.31095312G>T Met1? - NF1_001131 - PubMed: Sabbagh 2013 - - Germline - - - - - Beatrice Parfait
?/. 1 1 c.10C>T r.(?) p.(His4Tyr) - - - - VUS g.29422337C>T g.31095319C>T - - NF1_002530 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/7051 cases breast cancer - - - Yukihide Momozawa
-/. 1 1 c.12C>A r.(?) p.(His4Gln) - - - - benign g.29422339C>A g.31095321C>A - - NF1_002531 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 2/7051 cases breast cancer - - - Yukihide Momozawa
-/- 2 1 c.13G>C r.(?) p.(Ala5Pro) substitution missense - - benign g.29422340G>C g.31095322G>C - - NF1_000972 1 more item - - - Unknown - - - - - Rick van Minkelen
?/. 1 - c.15G>A r.(?) p.(=) - - - - VUS g.29422342G>A g.31095324G>A - - NF1_002532 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12483 controls - - - Yukihide Momozawa
+/+, +/. 2 1 c.20_21dup r.(?) p.(Glu8fs), p.(Glu8TrpfsTer17) duplication frameshift - - pathogenic g.29422347_29422348dup g.31095329_31095330dup 20_21dupTG, NF1(NM_000267.3):c.20_21dupTG (p.E8Wfs*17) - NF1_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Unknown - - - - - Rick van Minkelen, VKGL-NL_Rotterdam
+/+ 1 1 c.21_22del r.(?) p.Glu8fs deletion frameshift - - pathogenic g.29422348_29422349del g.31095330_31095331del 21_22delGG - NF1_001602 - - - - Germline - - - - - Sara Morosini
+/+, +/. 3 1 c.27G>A r.(?) p.(Trp9*), p.(Trp9Ter) substitution nonsense - - pathogenic g.29422354G>A g.31095336G>A NF1(NM_000267.3):c.27G>A (p.W9*) - NF1_000251 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline, Unknown - - - - - Rick van Minkelen, VKGL-NL_Rotterdam
+/+, +/. 5 1 c.31C>T r.(?) p.(Gln11*), p.(Gln11Ter) substitution nonsense - - pathogenic g.29422358C>T g.31095340C>T NF1(NM_000267.3):c.31C>T (p.Q11*) - NF1_000326 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline, Unknown - - - - - Rick van Minkelen, VKGL-NL_Rotterdam
?/. 1 - c.35C>T r.(?) p.(Ala12Val) - - - - VUS g.29422362C>T g.31095344C>T - - NF1_002533 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12483 controls - - - Yukihide Momozawa
?/. 1 - c.40G>T r.(?) p.(Val14Phe) - - - - NA g.29422367G>T - chr17_29422367_G_T - NF1_003014 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
+/+, +/. 4 1 c.47G>C r.(?) p.(Arg16Pro) substitution missense - - pathogenic g.29422374G>C g.31095356G>C NF1(NM_000267.3):c.47G>C (p.R16P) - NF1_000564 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, De novo, Germline, Unknown - - - - - Rick van Minkelen, VKGL-NL_Rotterdam
?/., ?/? 2 1 c.50T>C r.(?) p.(Phe17Ser) substitution missense - - VUS g.29422377T>C g.31095359T>C NF1(NM_000267.3):c.50T>C (p.F17S) - NF1_000615 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Unknown - - - - - Rick van Minkelen, VKGL-NL_Rotterdam
+/+, +/. 8 1 c.55G>T r.(?) p.(Glu19*), p.(Glu19Ter) substitution nonsense - - pathogenic g.29422382G>T g.31095364G>T NF1(NM_000267.3):c.55G>T (p.E19*) - NF1_000683 1 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs786203307 CLASSIFICATION record, De novo, Germline, Unknown - 1/2795 individuals - - - Glenda Beaman, Rick van Minkelen, VKGL-NL_Rotterdam, Mohammed Faruq
+/+, +/. 3 1 c.58C>T r.(?), r.[58c>u, 57_60del] p.(Gln20Ter), p.[Glu19fs,Gln20*] substitution frameshift;nonsense, nonsense;frameshift - - pathogenic g.29422385C>T g.31095367C>T NF1(NM_000267.3):c.58C>T (p.Q20*) - NF1_000727 VKGL data sharing initiative Nederland, 1 more item PubMed: Pros 2008 - - CLASSIFICATION record, De novo, Unknown - - - - - Beatrice Parfait, Rick van Minkelen, VKGL-NL_Rotterdam
+/+, +/. 3 1i c.60+1G>A r.spl, r.spl? p.? substitution splicing affected - - pathogenic g.29422388G>A g.31095370G>A NF1(NM_000267.3):c.60+1G>A - NF1_000733 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, De novo, Germline - - - - - Glenda Beaman, Rick van Minkelen, VKGL-NL_Rotterdam
+/+, +/. 2 1i c.60+1G>T r.spl, r.spl? p.? substitution splicing affected - - pathogenic g.29422388G>T g.31095370G>T NF1(NM_000267.3):c.60+1G>T - NF1_000734 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Unknown - - - - - Rick van Minkelen, VKGL-NL_Rotterdam
+/+, +/. 2 1i c.60+2T>C r.spl, r.spl? p.? substitution splicing affected - - pathogenic g.29422389T>C g.31095371T>C NF1(NM_000267.3):c.60+2T>C - NF1_000735 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Unknown - - - - - Rick van Minkelen, VKGL-NL_Rotterdam
+/+, +/. 2 1i c.60+2T>G r.spl, r.spl? p.? substitution splicing affected - - pathogenic g.29422389T>G g.31095371T>G NF1(NM_000267.3):c.60+2T>G - NF1_000736 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Unknown - - - - - Rick van Minkelen, VKGL-NL_Rotterdam
-/-, -/. 2 1i c.60+15G>A r.(=), r.(?) p.(=) substitution splicing affected - - benign g.29422402G>A g.31095384G>A 60+15G/A, NF1(NM_000267.3):c.60+15G>A - NF1_001063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Unknown - - - - - Rick van Minkelen, VKGL-NL_Rotterdam
+/+ 1 1i_29i c.60+3120_3975-326del r.61_3974del p.Leu21Valfs deletion, large deletion, large - - pathogenic g.29425507_29575676del g.31098489_31248658del 60+3120_3975-326del - NF1_001744 Alu-mediated NAHR PubMed: Hsiao 2015 - - Germline - - - - - Ludwine Messiaen
+/+ 1 1i c.60+9033_60+9037del r.60_61ins60+8962_60+9030 p.Gln20_Leu21ins23 deletion other/complex - - pathogenic g.29431420_29431424del g.31104402_31104406del 60+9032_60+9036del5 - NF1_001129 Deletion = AAGTT ? Insertion of a cryptic exon (69 bp in frame) PubMed: Sabbagh 2013 - - Germline - - - - - Beatrice Parfait
+/+ 1 1i_5i c.60+24136_587-5022del r.61_586del p.Leu21Lysfs deletion, large deletion, large - - pathogenic g.29446523_29503418del g.31119505_31176400del - - NF1_001743 L1-mediated NAHR PubMed: Hsiao 2015 - - De novo - - - - - Ludwine Messiaen
+/+ 1 1i_8i c.61-39291_888+11287del r.(?) p.? deletion, large deletion, large - - pathogenic g.29443710_29520970del g.31116692_31193952del 61-39291_888+11287del77253 - NF1_000745 1 more item - - - Unknown - - - - - Rick van Minkelen
+/+ 1 1i_33i c.61-28254_4367+32del r.(?) p.? deletion, large deletion, large - - pathogenic g.29454747_29586179del g.31127729_31259161del 61-28254_4367+32del31433 - NF1_000744 - - - - Unknown - - - - - Rick van Minkelen
+/+ 1 1i_4i c.61-16315_479+99del r.61_479del p.Leu21Valfs deletion, large deletion, large - - pathogenic g.29466686_29490493del g.31139668_31163475del - - NF1_001742 NHEJ or FoSTeS/MMBIR x 1 PubMed: Hsiao 2015 - - Unknown - - - - - Ludwine Messiaen
+/+ 1 1i c.61-12088_204+933del r.61_204del p.Leu21_Met68del48 deletion, large deletion, large - - pathogenic g.29470913_29484077del g.31143895_31157059del 61-12088_204+933del - NF1_001741 Alu-mediated NAHR PubMed: Hsiao 2015 - - Germline - - - - - Ludwine Messiaen
+/+ 1 1i_11i c.61-10453_1261-2029dup r.? p.? other/complex other/complex - - pathogenic g.29472548_29531229dup g.31145530_31204211dup 61-10453_1261-2029dup34770 - NF1_000002 - - - - Unknown - - - - - Rick van Minkelen
+/+ 1 1i_16i c.61-10302_1845+963del r.(?) p.? deletion, large deletion, large - - pathogenic g.29472699_29551548del g.31145681_31224530del 61-10302_1845+963del78850 - NF1_000741 1 more item - - - De novo - - - - - Rick van Minkelen
+/+ 2 1i c.61-7486G>T r.60-61ins61-7565_61-7492 p.Gln20_Leu21insThr* substitution other/complex - - pathogenic g.29475515G>T g.31148497G>T - - NF1_001132 Insertion of a cryptic exon (74 bp out of frame) PubMed: Sabbagh 2013 - - Unknown - - - - - Beatrice Parfait
+/+ 1 1i_2i c.61-6522_204+1022dup r.61_204dup p.Leu21_Met68dup48 duplication, large duplication, large - - pathogenic g.29476479_29484166dup g.31149461_31157148dup - - NF1_001812 Alu-mediated NAHR PubMed: Hsiao 2015 - - De novo - - - - - Ludwine Messiaen
+/+ 3 1i_2i c.61-5185_205-1285del r.61_204del p.Leu21_Met68del48 deletion, large deletion, large - - pathogenic g.29477816_29484743del g.31150798_31157725del 61-5185_205-1285del - NF1_001740 Alu-mediated NAHR PubMed: Hsiao 2015 - - De novo, Germline - - - - - Ludwine Messiaen
+/+ 1 1i_2i c.61-1737_204+1051del r.(?) p.? deletion, large deletion, large - - pathogenic g.29481264_29484195del g.31154246_31157177del 61-1737_204+1051del2932 - NF1_001403 - - - - Unknown - - - - - Rick van Minkelen
-?/-?, -?/. 2 1i c.61-14dup r.(=) p.(=) duplication splicing affected - - likely benign g.29482987dup g.31155969dup 61-14dupT, NF1(NM_000267.3):c.61-14dupT - NF1_001922, NF1_002326 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Unknown - - - - - Rick van Minkelen, VKGL-NL_Rotterdam
+/+, +/. 3 1i c.61-10_61-1del r.(?), r.spl? p.? deletion splicing affected - - pathogenic g.29482991_29483000del g.31155973_31155982del 61-10_61-1del10, NF1(NM_000267.3):c.61-10_61-1delTTTTTTTCAG - NF1_000740 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Unknown - - - - - Rick van Minkelen, VKGL-NL_Rotterdam
-/-, -/., -?/. 4 1i c.61-4del r.(?), r.spl? p.? deletion splicing affected - - benign, likely benign g.29482997del g.31155979del 61-4delT, NF1(NM_000267.3):c.61-4delT, NF1(NM_001042492.2):c.61-4delT - NF1_001065, NF1_002327 VKGL data sharing initiative Nederland PubMed: Mattocks 2004 - - CLASSIFICATION record, Unknown - - - - - Rick van Minkelen, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_VUmc
+/+ 1 1i c.61-2A>C r.spl p.? substitution splicing affected - - pathogenic g.29482999A>C g.31155981A>C - - NF1_001997 - (Cali, Submitted) - - Unknown - - - - - Francesco Cali
+/+, +/. 4 1i c.61-2A>G r.61_76del, r.spl, r.spl? p.?, p.Leu21fs substitution splicing affected - - pathogenic g.29482999A>G g.31155981A>G NF1(NM_000267.3):c.61-2A>G - NF1_001139 Inactivation of the authentic 3'ss, use of a cryptic site in exon 2 with deletion of the first 16nt, 1 more item PubMed: Pros 2008 - - CLASSIFICATION record, Unknown - - - - - Beatrice Parfait, Rick van Minkelen, VKGL-NL_Rotterdam
+/+ 1 1i c.61-1G>A r.61_76del p.Leu21fs substitution splicing affected - - pathogenic g.29483000G>A g.31155982G>A - - NF1_001138 Inactivation of the authentic 3'ss, use of a cryptic site in exon 2 with deletion of the first 16nt PubMed: Bausch 2007 - - Unknown - - - - - Beatrice Parfait
+/+, +/. 3 1i c.61-1G>C r.spl, r.spl? p.? substitution splicing affected - - pathogenic g.29483000G>C g.31155982G>C NF1(NM_000267.3):c.61-1G>C - NF1_000742 VKGL data sharing initiative Nederland ND (Pasmant, Submitted) - - CLASSIFICATION record, Germline, Unknown - - - - - Beatrice Parfait, Rick van Minkelen, VKGL-NL_Rotterdam
+/+ 3 1i_2i c.(60+1_61-1)_(204+1_205-1)del r.61_204del p.Leu21_Met68del deletion, large deletion, large - - pathogenic g.(29422388_29483000)_(29483145_29486027)del, g.29483001_29483144del - 61-?_204+?del - NF1_001689, NF1_002236, NF1_002237 Deletion of exon 2, 1 more item ND (Imbard, Submitted) - - Germline, Unknown - - - - - Beatrice Parfait, Glenda Beaman
?/? 1 1i_5i c.(60+1_61-1)_(586+1_587-1)dup r.? p.? duplication duplication - - pathogenic (dominant) g.(29422388_29483000)_(29497016_29508439)dup g.(31095370_31155982)_(31169998_31181421)dup ex2-5 duplication, 61_586dup - NF1_003728 - - - - Germline/De novo (untested) - - - - - Andri Miltiadous
+/+ 1 1i_48i c.(60+1_61-1)_(7126+1_7127-1)del r.(?) p.? deletion, large deletion, large - - pathogenic g.(29422388_29483000)_(29670154_29676137)del - 61-?_7126+?del - NF1_001692 Deletion of exons 2 to 48 ND (Imbard, Submitted) - - Unknown - - - - - Beatrice Parfait
+/+ 1 2 c.62T>C r.62u>c p.Leu21Pro substitution missense - - pathogenic g.29483002T>C g.31155984T>C - - NF1_001137 - PubMed: Sabbagh 2013 - - De novo - - - - - Beatrice Parfait
?/. 1 - c.64C>G r.(?) p.(Pro22Ala) - - - - NA g.29483004C>G - chr17_29483004_C_G - NF1_003015 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.67A>G r.(?) p.(Ile23Val) - - - - NA g.29483007A>G - chr17_29483007_A_G - NF1_003016 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
+?/+? 1 2 c.68delinsAC r.(?) p.(Ile23Asnfs*15) delins frameshift - - pathogenic g.29483008delinsAC g.31155990delinsAC - - NF1_003725 - - - - Germline - - - - - Andri Miltiadous
+/+ 1 1i-33/34 c.(60+598_92)_(4349_4433)del r.? p.? deletion, large - - - pathogenic g.(29422985_29483032)_(29586129_29587452)del - - - NF1_002527 - - - - Germline - - - - - Carlijn Brekelmans
+/+, +/. 2 2 c.81_82delinsAT r.(?) p.(Gln28*), p.(Gln28Ter) delins nonsense - - pathogenic g.29483021_29483022delinsAT g.31156003_31156004delinsAT 81_82delGCinsAT, NF1(NM_000267.3):c.81_82delGCinsAT (p.Q28*) - NF1_000930 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Unknown - - - - - Rick van Minkelen, VKGL-NL_Rotterdam
+/+, +/. 2 2 c.82C>T r.(?) p.(Gln28*), p.(Gln28Ter) substitution nonsense - - pathogenic g.29483022C>T g.31156004C>T NF1(NM_000267.3):c.82C>T (p.Q28*) - NF1_000933 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, De novo - - - - - Rick van Minkelen, VKGL-NL_Rotterdam
?/. 2 - c.83A>C r.(?) p.(Gln28Pro) - - - - NA g.29483023A>C - chr17_29483023_A_C - NF1_003017 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases, 2/53461 controls - - - BRIDGES consortium
?/. 1 - c.85A>G r.(?) p.(Asn29Asp) - - - - NA g.29483025A>G - chr17_29483025_A_G - NF1_003018 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 2 - c.86A>G r.(?) p.(Asn29Ser) - - - - NA g.29483026A>G - chr17_29483026_A_G - NF1_003019 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
?/. 2 - c.91C>T r.(?) p.(His31Tyr) - - - - NA g.29483031C>T - chr17_29483031_C_T - NF1_003020 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
+/. 1 2 c.91_103del r.91_103del p.His31Valfs*9 - - - - pathogenic g.29483031_29483043del g.31156013_31156025del 89-101del13 - NF1_002875 - PubMed: Ars 2003 - - Germline/De novo (untested) - - - - - Johan den Dunnen
?/. 1 - c.92A>G r.(?) p.(His31Arg) - - - - NA g.29483032A>G - chr17_29483032_A_G - NF1_003021 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
+/+, +/. 2 2 c.94dup r.(?) p.(Thr32AsnfsTer6), p.(Thr32fs) duplication frameshift - - pathogenic g.29483034dup g.31156016dup 94dupA, NF1(NM_000267.3):c.94dupA (p.T32Nfs*6) - NF1_000951 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, De novo - - - - - Rick van Minkelen, VKGL-NL_Rotterdam
?/. 1 - c.95C>A r.(?) p.(Thr32Asn) - - - - NA g.29483035C>A - chr17_29483035_C_A - NF1_003022 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
+/+, +/. 2 2 c.95_99del r.(?) p.(Thr32fs), p.(Thr32SerfsTer4) deletion frameshift - - pathogenic g.29483035_29483039del g.31156017_31156021del 95_99del5, NF1(NM_000267.3):c.95_99delCCAAA (p.T32Sfs*4) - NF1_000952 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Unknown - - - - - Rick van Minkelen, VKGL-NL_Rotterdam
-?/-? 1 2 c.99A>G r.(?) p.(=) substitution silent - - likely benign g.29483039A>G g.31156021A>G - - NF1_001610 - - - - Germline - - - - - Marica Eoli
+/+ 1 2 c.102_204+2del r.(?) p.(Ser35Glufs) deletion, large frameshift - - pathogenic g.29483042_29483146del g.31156024_31156128del - - NF1_002213 - - - - De novo - - - - - Glenda Beaman
?/. 1 - c.103A>G r.(?) p.(Ser35Gly) - - - - NA g.29483043A>G - chr17_29483043_A_G - NF1_003023 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
-?/., ?/., ?/? 5 2 c.107C>G r.(?) p.(Thr36Ser) substitution nonsense - - likely benign, NA, VUS g.29483047C>G g.31156029C>G chr17_29483047_C_G, NF1(NM_001042492.2):c.107C>G (p.T36S) - NF1_002247 VKGL data sharing initiative Nederland, 1 more item PubMed: Dorling 2021, Journal: Dorling 2021, PubMed: Trujillano 2017 - - CLASSIFICATION record, Germline - 15/60466 cases, 24/53461 controls - - - Daniel Trujillano, VKGL-NL_Rotterdam, VKGL-NL_VUmc, BRIDGES consortium
+/+ 1 2 c.113_115delins(7) r.(?) p.(His38fs) delins frameshift - - pathogenic g.29483053_29483055delins(7) - 113_115delACAins7 - NF1_000015 - - - - Germline - - - - - Rick van Minkelen
+/. 1 - c.113_115delinsTAATCAG r.(?) p.(His38LeufsTer30) - - - - pathogenic g.29483053_29483055delinsTAATCAG - NF1(NM_000267.3):c.113_115delACAinsTAATCAG (p.H38Lfs*30) - NF1_002328 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.124T>C r.(?) p.(Cys42Arg) - - - - NA g.29483064T>C - chr17_29483064_T_C - NF1_003024 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
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