Full data view for gene NF1

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

4967 entries on 50 pages. Showing entries 1 - 100.
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Effect     

Exon     

ClassClinical     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Type/DNA     

Predicted     

P-domain     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ _1_1i pathogenic c.-12763_60+3074del r.0? p.0? deletion, large deletion, large - Unknown g.29409565_29425461del g.31082547_31098443del -12763_60+3074del15897 p.(Met1?) - NF1_001389 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 52633 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_1i pathogenic c.-12290_60+5397del r.0? p.0? deletion, large deletion, large - Unknown g.29410038_29427784del g.31083020_31100766del -12290_60+5397del17747 p.Met1? - NF1_000030 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 8366 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_1i pathogenic c.-1614_60+1946del r.0? p.0? deletion, large deletion, large - Unknown g.29420714_29424333del g.31093696_31097315del -1614_60+1946del3620 p.Met1? - NF1_000080 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 29403 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_1i pathogenic c.-1614_60+3419del r.0? p.0? deletion, large deletion, large - Unknown g.29420714_29425806del g.31093696_31098788del -1614_60+3419del5093 p.Met1? - NF1_000081 - - - - Germline - - - 0 - DNA MLPA blood - NF-1 Rotterdam 1080 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_1i pathogenic c.-1486_60+3546del r.0? p.0? deletion, large deletion, large - Unknown g.29420842_29425933del g.31093824_31098915del -1486_60+3546del5092 p.(Met1?) - NF1_001837 - - - - Unknown - - - 0 - DNA SEQ blood - NF-1 Rotterdam 56472 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_1 pathogenic c.-915_-262del r.0? p.0? - - - Unknown g.29421413_29422066del g.31094395_31095048del - - NF1_002259 - - - - Germline - - - 0 - DNA SEQ - - NF-1 Rotterdam 70831 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
?/? 1 VUS c.-272G>A r.(?) p.? substitution other/complex - Maternal (confirmed) g.29422056G>A g.31095038G>A - - NF1_002232 - - - - Unknown - - - 0 - RNA SEQ Blood - ? G21618/301 - - - - - - - 0 - - 1 Glenda Beaman
?/? 1 VUS c.-272G>A r.(?) p.? substitution other/complex - Maternal (confirmed) g.29422056G>A g.31095038G>A - - NF1_002232 - - - - Unknown - - - 0 - RNA SEQ Blood - ? G20613/203 - - - - - - - 0 - - 1 Glenda Beaman
?/? 1 VUS c.-272G>C r.(?) p.? substitution other/complex - Paternal (confirmed) g.29422056G>C g.31095038G>C - - NF1_002233 - - - - Unknown - - - 0 - RNA SEQ Blood - ? G22543/301 - - - - - - - 0 - - 1 Glenda Beaman
+?/. _1_58_ ACMG: 4 c.(?_-50)_(*68_?)del r.0? p.0? deletion deletion, large - Unknown g.(?_29422278)_(29701241_?)del - - - NF1_002518 Deletion of the whole NF1 gene detected by MLPA; co-occurrence with c.8048A>C (p.Gln2683Pro) homozygous, which was not yet described - - - Germline ? - - 0 - DNA SEQ-NG-I - - NF 137416 - - F ? Germany - - 0 - - 1 Andreas Laner
?/? 1 VUS c.-27C>T r.(?) p.0? substitution splicing affected - Unknown g.29422301C>T g.31095283C>T p.Met1? - NF1_000250 - - - - Germline - - - 0 - DNA SEQ blood - NF-1 Rotterdam 49596 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
?/? 1 VUS c.-27C>T r.(?) p.0? - - - Unknown g.29422301C>T g.31095283C>T - - NF1_000250 - - - - Germline - - - 0 - DNA SEQ - - NF-1 Rotterdam 69169 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
-/- 1 benign c.-22G>C r.(?) p.0? substitution - - Unknown g.29422306G>C g.31095288G>C p.Met1? - NF1_001000 - - - - Unknown - - - 0 - DNA SEQ blood - NF-1 - - Patient also has the pathogenic mutation c.1756_1759del4, p.Thr586fs - - - - - 0 - - 1 Rick van Minkelen
+/+ _1_1i pathogenic c.(?_-1)_(60+1_61-1)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29422388_29483000)del - 1-?_60+?del - NF1_001687 Deletion of exon 1 and NF1 promotor ND (Imbard, Submitted) - - Germline - - - 0 - DNA MLPA, arrayCGH blood - NF-1 Paris 733 ND (Imbard, Submitted) - - - (France) - - 0 - - 1 Beatrice Parfait
+/+ _1_1i pathogenic c.(?_-1)_(60+1_61-1)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29422388_29483000)del - 1-?_60+?del - NF1_001687 Deletion of exon 1 and NF1 promotor ND (Imbard, Submitted) - - Unknown - - - 0 - DNA MLPA, arrayCGH blood - NF-1 Paris 734 ND (Imbard, Submitted) - - - (France) - - 0 - - 1 Beatrice Parfait
+/+ _1_1i pathogenic c.(?_-1)_(60+1_61-1)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29422388_29483000)del - 1-?_60+?del - NF1_001687 Deletion of exon 1 and NF1 promotor ND (Imbard, Submitted) - - Unknown - - - 0 - DNA MLPA, arrayCGH blood - NF-1 Paris 735 ND (Imbard, Submitted) - - - (France) - - 0 - - 1 Beatrice Parfait
+/+ _1_1i pathogenic c.(?_-1)_(60+1_61-1)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29422388_29483000)del - 1-?_60+?del - NF1_001687 Deletion of exon 1 and NF1 promotor ND (Imbard, Submitted) - - Unknown - - - 0 - DNA MLPA, arrayCGH blood - NF-1 Paris 736 ND (Imbard, Submitted) - - - (France) - - 0 - - 1 Beatrice Parfait
+/+ _1_29i pathogenic c.(?_-1)_(3974+1_3975-1)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29563040_29576001)del - 1-?_3974+?del - NF1_001483 Deletion of exons 1 to 29 ND (Pasmant, Submitted) - - Unknown - - - 0 - DNA SEQ, SEQ-NG, MLPA blood - NF-1 Paris 496 ND (Pasmant, Submitted) - - - (France) - - 0 - - 1 Beatrice Parfait
+/+ _1_35i pathogenic c.(?_-1)_(4661+1_4662-1)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29588876_29592246)del - 1-?_4661+?del - NF1_001688 Deletion of exons 1 to 35 ND (Imbard, Submitted) - - De novo - - - 0 - DNA PCRq, MLPA, arrayCGH blood - NF-1 Paris 737 ND (Imbard, Submitted) - - - (France) - - 0 - - 1 Beatrice Parfait
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 patient with JMML - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 24556 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 mosaic - - - Somatic - - - 0 - DNA MLPA blood - NF-1 Rotterdam 22375 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 mosaic - - - Somatic - - - 0 - DNA FISH blood - NF-1 Rotterdam 26839 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 mosaic - - - Somatic - - - 0 - DNA FISH blood - NF-1 Rotterdam 32066 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - De novo - - - 0 - DNA MLPA blood - NF-1 Rotterdam 29917 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - De novo - - - 0 - DNA MLPA blood - NF-1 Rotterdam 46936 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - De novo - - - 0 - DNA MLPA, FISH blood - NF-1 Rotterdam 17384 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 43760 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 3244 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 3717 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 3724 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 5589 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 5635 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 6387 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 7988 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 9304 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 9634 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 10216 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 11055 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 15411 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 19578 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 43757 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 35996 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 37749 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 12145 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 16620 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 24161 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 24430 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 52797 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 52808 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 35255 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 5218 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 25218 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 47857 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 36940 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 36892 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 29522 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 28972 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 39637 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 13054 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA FISH blood - NF-1 Rotterdam 27385 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA FISH blood - NF-1 Rotterdam 25311 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA FISH blood - NF-1 Rotterdam 27246 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 31372 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 29843 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 32077 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 35171 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 39477 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 41284 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 41309 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 34137 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 33898 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 25322 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 42087 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 45416 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 24534 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 53022 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 46676 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 53510 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 48579 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 35251 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 1526 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA, FISH blood - NF-1 Rotterdam 13693 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA, FISH blood - NF-1 Rotterdam 29288 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA, FISH blood - NF-1 Rotterdam 37040 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA, FISH blood - NF-1 Rotterdam 29038 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA FISH blood - NF-1 Rotterdam 26204 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA, FISH blood - NF-1 Rotterdam 26666 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 mosaic - - - Somatic - - - 0 - DNA MLPA blood - NF-1 Rotterdam 52251 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 mosaic - - - Somatic - - - 0 - DNA MLPA blood - NF-1 Rotterdam 36847 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA, FISH blood - NF-1 Rotterdam 32018 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA, FISH blood - NF-1 Rotterdam 1982 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA, FISH blood - NF-1 Rotterdam 22576 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 51501 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 53510 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 1606 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 37408 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 39723 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 55393 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 56774 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ pathogenic c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 58763 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
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