Full data view for gene NF1

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

98 entries on 1 page. Showing entries 1 - 98.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Type/DNA     

Predicted     

P-domain     

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_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic 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_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 mosaic - - - Somatic - - - 0 - DNA MLPA blood - NF-1 Rotterdam 22375 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 mosaic - - - Somatic - - - 0 - DNA FISH blood - NF-1 Rotterdam 26839 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 mosaic - - - Somatic - - - 0 - DNA FISH blood - NF-1 Rotterdam 32066 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - De novo - - - 0 - DNA MLPA blood - NF-1 Rotterdam 29917 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - De novo - - - 0 - DNA MLPA blood - NF-1 Rotterdam 46936 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic 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_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 43760 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 3244 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 3717 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 3724 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 5589 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 5635 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 6387 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 7988 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 9304 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 9634 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 10216 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 11055 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 15411 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 19578 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 43757 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 35996 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 37749 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 12145 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 16620 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 24161 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 24430 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 52797 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 52808 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 35255 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 5218 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 25218 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 47857 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 36940 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 36892 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 29522 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 28972 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 39637 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 13054 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA FISH blood - NF-1 Rotterdam 27385 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA FISH blood - NF-1 Rotterdam 25311 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA FISH blood - NF-1 Rotterdam 27246 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 31372 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 29843 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 32077 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 35171 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 39477 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 41284 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 41309 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 34137 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 33898 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 25322 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 42087 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 45416 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 24534 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 53022 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 46676 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 53510 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 48579 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 35251 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 1526 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA, FISH blood - NF-1 Rotterdam 13693 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA, FISH blood - NF-1 Rotterdam 29288 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA, FISH blood - NF-1 Rotterdam 37040 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA, FISH blood - NF-1 Rotterdam 29038 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA FISH blood - NF-1 Rotterdam 26204 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA, FISH blood - NF-1 Rotterdam 26666 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 mosaic - - - Somatic - - - 0 - DNA MLPA blood - NF-1 Rotterdam 52251 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 mosaic - - - Somatic - - - 0 - DNA MLPA blood - NF-1 Rotterdam 36847 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA, FISH blood - NF-1 Rotterdam 32018 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA, FISH blood - NF-1 Rotterdam 1982 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA, FISH blood - NF-1 Rotterdam 22576 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 51501 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 53510 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 1606 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 37408 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 39723 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 55393 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 56774 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 58763 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 59605 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Germline - - - 0 - DNA MLPA blood - NF-1 Rotterdam 59938 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 61174 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 61865 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 63104 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 64483 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Unknown - - - 0 - DNA MLPA blood - NF-1 Rotterdam 64582 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0 - - - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Germline - - - 0 - DNA SEQ - - NF-1 Rotterdam 69979 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0 - - - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Germline - - - 0 - DNA SEQ - - NF-1 Rotterdam 70925 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0 - - - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Germline - - - 0 - DNA SEQ - - NF-1 Rotterdam 70940 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0 - - - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Germline - - - 0 - DNA SEQ - - NF-1 Rotterdam 71007 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0 - - - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Germline - - - 0 - DNA SEQ - - NF-1 Rotterdam 71133 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0 - - - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Germline - - - 0 - DNA SEQ - - NF-1 Rotterdam 71322 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0 - - - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Germline - - - 0 - DNA SEQ - - NF-1 Rotterdam 73129 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0 - - - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Germline - - - 0 - DNA SEQ - - NF-1 Rotterdam 73581 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0 - - - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - Germline - - - 0 - DNA SEQ - - NF-1 Rotterdam 66614 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ _1_58_ c.(?_-1)_(*1_?)del r.0? p.0? deletion, large deletion, large - Unknown - pathogenic g.(?_29422327)_(29701174_?)del - - - NF1_000001 - - - - De novo - - - 0 - DNA MLPA white blood cells - NF-1 epi-2014-NF-006-wbc - - F no Russia Slavs 13y08m 0 - - 1 Kristina Karandasheva
Legend