Full data view for gene NF1

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

118 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

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     
+/+ 38 c.5425C>T r.(?) p.(Arg1809Cys) substitution missense - Unknown - pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - - - - De novo - - - 0 - DNA SEQ Peripheral blood - NF-1 1 - - M - Italy Caucasian - 0 - - 1 Alessandro De Luca
+/+ 38 c.5425C>T r.(?) p.(Arg1809Cys) substitution missense - Unknown - pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - - - - De novo - - - 0 - DNA SEQ Peripheral blood - NF-1 2 - - M - Italy Caucasian - 0 - - 1 Alessandro De Luca
+/+ 38 c.5425C>T r.(?) p.(Arg1809Cys) substitution missense - Unknown - pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - - - - De novo - - - 0 - DNA SEQ Peripheral blood - NF-1 3 - - F - Italy Caucasian - 0 - - 1 Alessandro De Luca
+/+ 38 c.5425C>T r.(?) p.(Arg1809Cys) substitution missense - Parent #1 - pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - - - - Germline - - - 0 - DNA SEQ Peripheral blood - NF-1 F4,II:2 - - F - Italy Caucasian - 0 - - 1 Alessandro De Luca
+/+ 38 c.5425C>T r.(?) p.(Arg1809Cys) substitution missense - Parent #1 - pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - - - - Germline - - - 0 - DNA SEQ Peripheral blood - NF-1 F4,III:1 - - M - Italy Caucasian - 0 - - 1 Alessandro De Luca
+/+ 38 c.5425C>T r.(?) p.(Arg1809Cys) substitution missense - Parent #1 - pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - - - - Germline - - - 0 - DNA SEQ Peripheral blood - NF-1 F5,II:3 - - M - Italy Caucasian - 0 - - 1 Alessandro De Luca
+/+ 38 c.5425C>T r.(?) p.(Arg1809Cys) substitution missense - Parent #1 - pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - - - - Germline - - - 0 - DNA SEQ Peripheral blood - NF-1 F5,III:2 - - F - Italy Caucasian - 0 - - 1 Alessandro De Luca
+/+ 38 c.5425C>T r.(?) p.(Arg1809Cys) substitution missense - Parent #1 - pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - - - - Germline - - - 0 - DNA SEQ Peripheral blood - NF-1 F5,III:7 - - F - Italy Caucasian - 0 - - 1 Alessandro De Luca
+/+ 38 c.5425C>T r.(?) p.(Arg1809Cys) substitution missense - Parent #1 - pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - - - - Germline - - - 0 - DNA SEQ Peripheral blood - NF-1 F6,II:2 - - F - Italy Caucasian - 0 - - 1 Alessandro De Luca
+/+ 38 c.5425C>T r.(?) p.(Arg1809Cys) substitution missense - Unknown - pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ? 25533962-Dec264096 PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
+/+ 38 c.5425C>T r.(?) p.(Arg1809Cys) substitution missense - Unknown - pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - - - - Germline - - - 0 - DNA SEQ blood - NF-1 Rotterdam 21048 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ 38 c.5425C>T r.(?) p.(Arg1809Cys) substitution missense - Unknown - pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - - - - Germline - - - 0 - DNA SEQ blood - NF-1 Rotterdam 16764 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ 38 c.5425C>T r.(?) p.(Arg1809Cys) substitution missense - Unknown - pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - - - - Germline - - - 0 - DNA SEQ blood - NF-1 Rotterdam 26689 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ 38 c.5425C>T r.(?) p.(Arg1809Cys) substitution missense - Unknown - pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - - - - Germline - - - 0 - DNA SEQ blood - NF-1 Rotterdam 2379 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ 38 c.5425C>T r.(?) p.(Arg1809Cys) substitution missense - Unknown - pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - - - - Germline - - - 0 - DNA SEQ blood - NF-1 Rotterdam 32672 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ 38 c.5425C>T r.(?) p.(Arg1809Cys) substitution missense - Unknown - pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - - - - Germline - - - 0 - DNA SEQ blood - NF-1 Rotterdam 31329 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ 38 c.5425C>T r.(?) p.(Arg1809Cys) substitution missense - Unknown - pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - - - - Germline - - - 0 - DNA SEQ blood - NF-1 Rotterdam 46587 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ 38 c.5425C>T r.(?) p.(Arg1809Cys) substitution missense - Unknown - pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - - - - De novo - - - 0 - DNA SEQ blood - NF-1 Rotterdam 19736 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ 38 c.5425C>T r.(?) p.(Arg1809Cys) substitution missense - Unknown - pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - - - - Unknown - - - 0 - DNA SEQ blood - NF-1 Rotterdam 18453 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ 38 c.5425C>T r.(?) p.(Arg1809Cys) substitution missense - Unknown - pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - - - - Unknown - - - 0 - DNA SEQ blood - NF-1 Rotterdam 6528 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ 38 c.5425C>T r.(?) p.(Arg1809Cys) substitution missense - Unknown - pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - - - - Unknown - - - 0 - DNA SEQ blood - NF-1 Rotterdam 48251 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ 38 c.5425C>T r.(?) p.(Arg1809Cys) substitution missense - Unknown - pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - - - - Unknown - - - 0 - DNA SEQ blood - NF-1 Rotterdam 53931 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ 38 c.5425C>T r.(?) p.(Arg1809Cys) substitution missense - Unknown - pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - - - - Unknown - - - 0 - DNA SEQ blood - NF-1 Rotterdam 54831 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ 38 c.5425C>T r.(?) p.(Arg1809Cys) substitution nonsense - Unknown - pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Syrbe 2007 - - Unknown - - - 0 - DNA SEQ, SEQ-NG blood - NF-1 Paris 665 PubMed: Syrbe 2007 - - - (France) - - 0 - - 1 Beatrice Parfait
+/+ 38 c.5425C>T r.(?) p.(Arg1809Cys) substitution missense - Unknown - pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - - - - Unknown - - - 0 - DNA SEQ blood - NF-1 Rotterdam 56827 - - - - (Netherlands) - - 0 - - 1 Rick van Minkelen
+/+ 38 c.5425C>T r.(?) p.(Arg1809Cys) substitution missense - Unknown - pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - (Cali, Submitted) - - Unknown - - - 0 - DNA SEQ blood - NF-1 Troina 3758 (Cali, Submitted) - - - (Italy) - - 0 - - 1 Francesco Cali
+/+ 38 c.5425C>T r.(?) p.(Arg1809Cys) substitution missense - Unknown - pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - (Cali, Submitted) - - Unknown - - - 0 - DNA SEQ blood - NF-1 Troina 3947 (Cali, Submitted) - - - (Italy) - - 0 - - 1 Francesco Cali
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - De novo - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - De novo - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - De novo - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - De novo - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - De novo - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - De novo - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - De novo - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - De novo - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - De novo - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - De novo - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - De novo - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - De novo - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - De novo - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - De novo - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Germline - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Germline - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Germline - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Germline - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Germline - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Germline - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Germline - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Germline - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Germline - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Germline - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Germline - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Germline - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Germline - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Germline - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Germline - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Germline - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Germline - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Germline - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Germline - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Germline - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Germline - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Germline - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Germline - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Unknown - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Unknown - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Unknown - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Unknown - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Unknown - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Unknown - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Unknown - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Unknown - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Unknown - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Unknown - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Unknown - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Unknown - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Unknown - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Unknown - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Unknown - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Unknown - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Unknown - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Unknown - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Unknown - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Unknown - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Unknown - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Unknown - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Unknown - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Unknown - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Unknown - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Unknown - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Unknown - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Unknown - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Unknown - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Unknown - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Unknown - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Unknown - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Unknown - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Unknown - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Unknown - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
+/+ 38 c.5425C>T r.5425c>u p.Arg1809Cys substitution missense - Parent #1 ACMG pathogenic g.29654736C>T g.31327718C>T - - NF1_000653 - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - Unknown - - - 0 - RNA RT-PCR, SEQ blood - NF - PubMed: Rojnueangnit 2015, Journal: Rojnueangnit 2015 - - - - - - 0 - - 1 Ludwine Messiaen
Legend   How to query   « First ‹ Prev     1 2     Next › Last »