Unique variants in the NF1 gene

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

2705 entries on 28 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
?/? 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 _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
?/? 2 1 c.-27C>T r.(?) p.0? substitution splicing affected - - VUS g.29422301C>T g.31095283C>T p.Met1? - NF1_000250 - - - - Germline - - - - - Rick van Minkelen
-/- 1 1 c.-22G>C r.(?) p.0? substitution - - - benign g.29422306G>C g.31095288G>C p.Met1? - NF1_001000 - - - - Unknown - - - - - Rick van Minkelen
+/+ 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 patient with JMML, mosaic - - - Unknown, Germline, Somatic, De novo - - - - - 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 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
+/+ 5 1 c.1A>G r.(?), r.1a>g p.0? substitution missense - - pathogenic g.29422328A>G g.31095310A>G (Met1Val), Met1? - NF1_000140 - PubMed: Brinckmann 2007 - - Unknown, Germline, De novo - - - - - Rick van Minkelen, Beatrice Parfait
+/+ 1 1 c.1A>T r.(?) p.0? - - - - pathogenic g.29422328A>T g.31095310A>T - - NF1_002260 - - - - Germline - - - - - Rick van Minkelen
+?/+? 1 1 c.2T>A r.(?) p.0? substitution missense - - VUS g.29422329T>A g.31095311T>A (Met1Lys) - NF1_001861 - - - - Unknown - - - - - Rick van Minkelen
+/+ 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
+/+ 1 1 c.20_21dup r.(?) p.(Glu8fs) duplication frameshift - - pathogenic g.29422347_29422348dup g.31095329_31095330dup 20_21dupTG - NF1_000141 - - - - Unknown - - - - - Rick van Minkelen
+/+ 1 1 c.21_22del r.(?) p.Glu8fs deletion frameshift - - pathogenic g.29422348_29422349del g.31095330_31095331del 21_22delGG - NF1_001602 - - - - Germline - - - - - Sara Morosini
+/+ 2 1 c.27G>A r.(?) p.(Trp9*) substitution nonsense - - pathogenic g.29422354G>A g.31095336G>A - - NF1_000251 - - - - Unknown, Germline - - - - - Rick van Minkelen
+/+ 4 1 c.31C>T r.(?) p.(Gln11*) substitution nonsense - - pathogenic g.29422358C>T g.31095340C>T - - NF1_000326 - - - - Germline, Unknown - - - - - Rick van Minkelen
?/. 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
+/+ 3 1 c.47G>C r.(?) p.(Arg16Pro) substitution missense - - pathogenic g.29422374G>C g.31095356G>C - - NF1_000564 - - - - Germline, De novo, Unknown - - - - - Rick van Minkelen
?/? 1 1 c.50T>C r.(?) p.(Phe17Ser) substitution missense - - VUS g.29422377T>C g.31095359T>C - - NF1_000615 - - - - Unknown - - - - - Rick van Minkelen
+/+, +/. 7 1 c.55G>T r.(?) p.(Glu19*) substitution nonsense - - pathogenic g.29422382G>T g.31095364G>T - - NF1_000683 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs786203307 Unknown, De novo, Germline - 1/2795 individuals - - - Rick van Minkelen, Mohammed Faruq, Glenda Beaman
+/+ 2 1 c.58C>T r.[58c>u, 57_60del] p.[Glu19fs,Gln20*] substitution nonsense;frameshift, frameshift;nonsense - - pathogenic g.29422385C>T g.31095367C>T - - NF1_000727 1 more item PubMed: Pros 2008 - - De novo, Unknown - - - - - Rick van Minkelen, Beatrice Parfait
+/+ 2 1i c.60+1G>A r.spl p.? substitution splicing affected - - pathogenic g.29422388G>A g.31095370G>A - - NF1_000733 - - - - De novo, Germline - - - - - Glenda Beaman, Rick van Minkelen
+/+ 1 1i c.60+1G>T r.spl p.? substitution splicing affected - - pathogenic g.29422388G>T g.31095370G>T - - NF1_000734 - - - - Unknown - - - - - Rick van Minkelen
+/+ 1 1i c.60+2T>C r.spl p.? substitution splicing affected - - pathogenic g.29422389T>C g.31095371T>C - - NF1_000735 - - - - Unknown - - - - - Rick van Minkelen
+/+ 1 1i c.60+2T>G r.spl p.? substitution splicing affected - - pathogenic g.29422389T>G g.31095371T>G - - NF1_000736 - - - - Unknown - - - - - Rick van Minkelen
-/- 1 1i c.60+15G>A r.(?) p.(=) substitution splicing affected - - benign g.29422402G>A g.31095384G>A 60+15G/A - NF1_001063 - - - - Unknown - - - - - Rick van Minkelen
+/+ 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 - - Germline, De novo - - - - - 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
-?/-? 1 1i c.61-14dup r.(=) p.(=) duplication splicing affected - - likely benign g.29482987dup g.31155969dup 61-14dupT - NF1_001922 - - - - Unknown - - - - - Rick van Minkelen
+/+ 2 1i c.61-10_61-1del r.(?) p.? deletion splicing affected - - pathogenic g.29482991_29483000del g.31155973_31155982del 61-10_61-1del10 - NF1_000740 - - - - Unknown - - - - - Rick van Minkelen
-/- 1 1i c.61-4del r.(?) p.? deletion splicing affected - - benign g.29482997del g.31155979del 61-4delT - NF1_001065 - PubMed: Mattocks 2004 - - Unknown - - - - - Rick van Minkelen
+/+ 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
+/+ 3 1i c.61-2A>G r.spl, r.61_76del p.?, p.Leu21fs substitution splicing affected - - pathogenic g.29482999A>G g.31155981A>G - - NF1_001139 Inactivation of the authentic 3'ss, use of a cryptic site in exon 2 with deletion of the first 16nt PubMed: Pros 2008 - - Unknown - - - - - Rick van Minkelen, Beatrice Parfait
+/+ 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
+/+ 2 1i c.61-1G>C r.spl p.? substitution splicing affected - - pathogenic g.29483000G>C g.31155982G>C - - NF1_000742 - ND (Pasmant, Submitted) - - Unknown, Germline - - - - - Beatrice Parfait, Rick van Minkelen
+/+ 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.29483001_29483144del, g.(29422388_29483000)_(29483145_29486027)del - 61-?_204+?del - NF1_002237, NF1_002236, NF1_001689 Deletion of exon 2, 1 more item ND (Imbard, Submitted) - - Unknown, Germline - - - - - Glenda Beaman, Beatrice Parfait
+/+ 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 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
+/+ 1 2 c.81_82delinsAT r.(?) p.(Gln28*) delins nonsense - - pathogenic g.29483021_29483022delinsAT g.31156003_31156004delinsAT 81_82delGCinsAT - NF1_000930 - - - - Unknown - - - - - Rick van Minkelen
+/+ 1 2 c.82C>T r.(?) p.(Gln28*) substitution nonsense - - pathogenic g.29483022C>T g.31156004C>T - - NF1_000933 - - - - De novo - - - - - Rick van Minkelen
+/. 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 2 c.94dup r.(?) p.(Thr32fs) duplication frameshift - - pathogenic g.29483034dup g.31156016dup 94dupA - NF1_000951 - - - - De novo - - - - - Rick van Minkelen
+/+ 1 2 c.95_99del r.(?) p.(Thr32fs) deletion frameshift - - pathogenic g.29483035_29483039del g.31156017_31156021del 95_99del5 - NF1_000952 - - - - Unknown - - - - - Rick van Minkelen
-?/-? 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 2 c.107C>G r.(?) p.(Thr36Ser) substitution nonsense - - VUS g.29483047C>G g.31156029C>G - - NF1_002247 - Trujillano et al., submitted - - Germline - - - - - Daniel Trujillano
+/+ 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 2 c.127del r.127del p.Leu43* deletion nonsense - - pathogenic g.29483067del g.31156049del 127delC - NF1_001133 - PubMed: Sabbagh 2013 - - Unknown - - - - - Beatrice Parfait
+/+ 1 2 c.128T>C r.(?) p.(Leu43Pro) substitution missense - - pathogenic g.29483068T>C g.31156050T>C - - NF1_000049 - - - - De novo - - - - - Rick van Minkelen
+/+ 1 2 c.132del r.132del p.Asn45fs deletion frameshift - - pathogenic g.29483072del g.31156054del 132delC - NF1_001134 - PubMed: Sabbagh 2013 - - Unknown - - - - - Beatrice Parfait
?/., +/? 2 2 c.134A>G r.(?), r.134a>g p.(Asn45Ser), p.Asn45Ser substitution missense - - VUS g.29483074A>G g.31156056A>G - - NF1_001135 - PubMed: Momozawa 2018, Journal: Momozawa 2018, PubMed: Sabbagh 2013 - rs753189381 Germline, Unknown - 1/12490 controls - - - Yukihide Momozawa, Beatrice Parfait
?/? 1 2 c.139T>C r.(?) p.(Ser47Pro) - - - - VUS g.29483079T>C g.31156061T>C - - NF1_002214 - - - - Unknown - - - - - Glenda Beaman
?/. 3 2 c.144A>G r.(?) p.(=) - - - - VUS g.29483084A>G g.31156066A>G - - NF1_002534 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs763375105 Germline - 3/12490 controls, 3/7051 cases breast cancer, 8/11241 controls - - - Yukihide Momozawa
+/+ 1 2 c.146del r.(?) p.(Tyr49fs) deletion frameshift - - pathogenic g.29483086del g.31156068del 146delA - NF1_001835 - - - - De novo - - - - - Rick van Minkelen
+/+ 1 2 c.147C>A r.(?) p.(Tyr49*) substitution nonsense - - pathogenic g.29483087C>A g.31156069C>A - - NF1_000065 - - - - Unknown - - - - - Rick van Minkelen
+/+ 1 2 c.147C>G r.(?) p.(Tyr49*) substitution nonsense - - pathogenic g.29483087C>G g.31156069C>G - - NF1_001836 - - - - Unknown - - - - - Rick van Minkelen
+/+ 1 2 c.147del r.147del p.Tyr49* deletion nonsense - - pathogenic g.29483087del g.31156069del 147delC - NF1_001136 - PubMed: Sabbagh 2013 - - Unknown - - - - - Beatrice Parfait
?/. 2 2 c.155C>G r.(?) p.(Ser52Cys) - - - - VUS g.29483095C>G g.31156077C>G - - NF1_002535 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12490 controls, 1/7051 cases breast cancer - - - Yukihide Momozawa
-/- 1 2 c.168C>T r.(?) p.(=) substitution silent - - benign g.29483108C>T g.31156090C>T - - NF1_000976 - PubMed: Mattocks 2004 - - Unknown - - - - - Rick van Minkelen
-/. 1 2 c.171C>A r.(?) p.(=) - - - - benign g.29483111C>A g.31156093C>A - - NF1_002536 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/11241 controls - - - Yukihide Momozawa
+?/+? 1 2 c.173T>C r.(?) p.(Leu58Pro) substitution missense - - likely pathogenic g.29483113T>C g.31156095T>C - - NF1_000108 Functional testing (unpublished): decreased interaction with SPRED1. - - - Unknown - - - - - Rick van Minkelen
+/+ 1 2 c.173T>G r.(?) p.(Leu58Arg) substitution missense - - pathogenic g.29483113T>G g.31156095T>G - - NF1_000109 - - - - De novo - - - - - Rick van Minkelen
+/+ 1 2 c.173_178dup r.(?) p.(Thr59_Thr60insIleThr) duplication delins - - pathogenic g.29483113_29483118dup g.31156095_31156100dup 173_178dup6 - NF1_000105 dup TCACTA - - - De novo - - - - - Rick van Minkelen
?/. 1 - c.179C>T r.(?) p.(Thr60Ile) - - - - VUS g.29483119C>T g.31156101C>T - - NF1_002537 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - - Germline - 1/12490 controls - - - Yukihide Momozawa
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