Full data view for gene OMG

Information The variants shown are described using the NM_002544.4 transcript reference sequence.

103 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
-/. - c.-81780A>G benign r.(?) p.(=) Unknown g.29705947T>C - NF1(NM_000267.3):NULL - EVI2A_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-63540G>A likely benign r.(?) p.(=) Unknown g.29687707C>T - NF1(NM_000267.3):c.8300C>T (p.(Ser2767Phe), p.(Ser2788Phe)) - NF1_002480 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-63508G>T VUS r.(?) p.(=) Unknown g.29687675C>A - NF1(NM_000267.3):c.8268C>A (p.N2756K) - NF1_002479 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-61493C>T benign r.(?) p.(=) Unknown g.29685660G>A - NF1(NM_001042492.2):c.8113+20G>A - NF1_001116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-61457T>C likely benign r.(?) p.(=) Unknown g.29685624A>G - NF1(NM_000267.3):c.8034A>G (p.Q2678=) - NF1_002477 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-61331C>A likely benign r.(?) p.(=) Unknown g.29685498G>T - NF1(NM_000267.3):c.7908G>T (p.(=)) - EVI2A_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-61330C>A likely benign r.(?) p.(=) Unknown g.29685497G>T - NF1(NM_000267.3):c.7908-1G>T (p.?) - NF1_002473 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-61329T>A likely benign r.(?) p.(=) Unknown g.29685496A>T - NF1(NM_000267.3):c.7908-2A>T (p.?) - EVI2A_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-61324G>A likely benign r.(?) p.(=) Unknown g.29685491C>T - NF1(NM_000267.3):c.7908-7C>T (p.(=)) - EVI2A_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-61315del likely benign r.(?) p.(=) Unknown g.29685490del - NF1(NM_000267.3):c.7908-8delT, NF1(NM_001042492.2):c.7971-16delT - NF1_002472 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-61312C>A benign r.(?) p.(=) Unknown g.29685479G>T - NF1(NM_001042492.2):c.7971-19G>T - NF1_001112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.-59944T>A likely pathogenic r.(?) p.(=) Unknown g.29684111A>T - NF1(NM_000267.3):c.7806+3A>T - EVI2A_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-59827G>A benign r.(?) p.(=) Unknown g.29683994C>T - NF1(NM_001042492.2):c.7755C>T (p.=) - NF1_001103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-59318C>T likely benign r.(?) p.(=) Unknown g.29683485G>A - NF1(NM_001042492.2):c.7623G>A (p.=) - NF1_001099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-59318C>T likely benign r.(?) p.(=) Unknown g.29683485G>A - NF1(NM_001042492.2):c.7623G>A (p.=) - NF1_001099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-59314G>T likely benign r.(?) p.(=) Unknown g.29683481C>A - NF1(NM_000267.3):c.7556C>A (p.(Thr2519Lys), p.(Thr2540Lys)) - EVI2A_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-55234T>C likely benign r.(?) p.(=) Unknown g.29679401A>G - NF1(NM_001042492.2):c.7584A>G (p.=) - NF1_001098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-55181C>G likely benign r.(?) p.(=) Unknown g.29679348G>C - NF1(NM_000267.3):c.7468G>C (p.V2490L) - NF1_000890 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-53093G>A VUS r.(?) p.(=) Unknown g.29677260C>T - NF1(NM_000267.3):c.7318C>T (p.L2440F) - NF1_002467 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-40979T>C VUS r.(?) p.(=) Unknown g.29665146A>G - NF1(NM_001042492.2):c.6808A>G (p.Ile2270Val) - NF1_002484 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-39731G>A benign r.(?) p.(=) Unknown g.29663898C>T - NF1(NM_001042492.2):c.6393C>T (p.=) - NF1_001069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-39653G>A likely benign r.(?) p.(=) Unknown g.29663820C>T - NF1(NM_001042492.2):c.6315C>T (p.=) - NF1_002443 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-39585G>A VUS r.(?) p.(=) Unknown g.29663752C>T - NF1(NM_001042492.2):c.6247C>T (p.Arg2083Cys) - NF1_002483 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-39459dup likely benign r.(?) p.(=) Unknown g.29663636dup - NF1(NM_000267.3):c.6085-16delTinsAT, NF1(NM_000267.3):c.6085-17_6085-16insA - NF1_002438 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-39332G>C likely benign r.(?) p.(=) Unknown g.29663499C>G - NF1(NM_001042492.2):c.6147+8C>G - NF1_001064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-39332G>C likely benign r.(?) p.(=) Unknown g.29663499C>G - NF1(NM_001042492.2):c.6147+8C>G - NF1_001064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-39210T>C likely benign r.(?) p.(=) Unknown g.29663377A>G - NF1(NM_001042492.2):c.6033A>G (p.=) - NF1_002436 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-37823T>C VUS r.(?) p.(=) Unknown g.29661990A>G - NF1(NM_000267.3):c.5884A>G (p.I1962V) - NF1_002486 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-37782T>A likely benign r.(?) p.(=) Unknown g.29661949A>T - NF1(NM_000267.3):c.5843A>T (p.(Gln1948Leu), p.(Gln1969Leu)) - EVI2A_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-33164A>C pathogenic r.(?) p.(=) Unknown g.29657331T>G - NF1(NM_001042492.2):c.5627T>G (p.Leu1876Arg) - EVI2A_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-30709A>T benign r.(?) p.(=) Unknown g.29654876T>A - NF1(NM_000267.3):c.5546+19T>A - NF1_001058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-30557G>C VUS r.(?) p.(=) Unknown g.29654724C>G - NF1(NM_000267.3):c.5413C>G (p.(His1805Asp)) - EVI2A_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-29070C>T likely benign r.(?) p.(=) Unknown g.29653237G>A - NF1(NM_001042492.2):c.5235G>A (p.=) - NF1_001049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-29070C>T benign r.(?) p.(=) Unknown g.29653237G>A - NF1(NM_001042492.2):c.5235G>A (p.=) - NF1_001049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-28870T>C benign r.(?) p.(=) Unknown g.29653037A>G - NF1(NM_001042492.2):c.5035A>G (p.I1679V) - EVI2A_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-28764C>T benign r.(?) p.(=) Unknown g.29652931G>A - NF1(NM_001042492.2):c.4929G>A (p.=) - NF1_001047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-28717A>G benign r.(?) p.(=) Unknown g.29652884T>C - NF1(NM_001042492.2):c.4882T>C (p.=) - NF1_001046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-21851T>C VUS r.(?) p.(=) Unknown g.29646018A>G - EVI2A(NM_001003927.2):c.83T>C (p.(Met28Thr), p.(Met5Thr)) - EVI2A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-7442C>G benign r.(?) p.(=) Unknown g.29631609G>C - NF1(NM_000267.3):c.4773-21229G>C - EVI2A_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*29692T>C likely benign r.(=) p.(=) Unknown g.29592335A>G - NF1(NM_000267.3):c.4750A>G (p.(Ile1584Val), p.(Ile1605Val)) - NF1_001043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*34483G>C likely benign r.(=) p.(=) Unknown g.29587544C>G - NF1(NM_001042492.2):c.4577+11C>G - NF1_001038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*34626A>G VUS r.(=) p.(=) Unknown g.29587401T>C - NF1(NM_001042492.2):c.4445T>C (p.I1482T) - NF1_002397 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*35928A>C VUS r.(=) p.(=) Unknown g.29586099T>G - NF1(NM_001042492,NM_000267):c.4382T>G (p.M1440R) - NF1_000495 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*36485_*36488del likely benign r.(=) p.(=) Unknown g.29585542_29585545del - NF1(NM_000267.3):c.4269+22_4269+25delGCTA - NF1_002394 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.*36509T>C pathogenic r.(=) p.(=) Unknown g.29585518A>G - NF1(NM_001042492.2):c.4330A>G (p.K1444E) - NF1_000473 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.*36605T>C pathogenic r.(=) p.(=) Unknown g.29585422A>G - NF1(NM_000267.3):c.4171A>G (p.(Arg1391Gly)) - NF1_000460 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*36609G>A likely benign r.(=) p.(=) Unknown g.29585418C>T - NF1(NM_001042492.2):c.4230C>T (p.F1410=) - NF1_002391 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*36673_*36675del benign r.(=) p.(=) Unknown g.29585354_29585356del - NF1(NM_000267.3):c.4111-10_4111-8delGTT, NF1(NM_001042492.2):c.4174-10_4174-8delTTG - NF1_001030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*42075C>T VUS r.(=) p.(=) Unknown g.29579952G>A - NF1(NM_001042492.2):c.4111-4G>A (p.?) - NF1_001031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*45886A>G VUS r.(=) p.(=) Unknown g.29576141T>C - NF1(NM_000267.3):c.4110+4T>C (p.?) - NF1_002389 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*59240G>A VUS r.(=) p.(=) Unknown g.29562787C>T - NF1(NM_001042492.2):c.3867C>T (p.=) - NF1_001024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*59240G>A likely benign r.(=) p.(=) Unknown g.29562787C>T - NF1(NM_001042492.2):c.3867C>T (p.=) - NF1_001024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*59280C>T likely pathogenic r.(=) p.(=) Unknown g.29562747G>A - NF1(NM_001042492.2):c.3827G>A (p.Arg1276Gln) - NF1_000405 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.*59281G>A pathogenic r.(=) p.(=) Unknown g.29562746C>T - NF1(NM_001042492,2):c.3826C>T (p.Arg1276*) - NF1_000403 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.*59386G>A pathogenic r.(=) p.(=) Unknown g.29562641C>T - NF1(NM_000267.3):c.3721C>T (p.R1241*) - NF1_000390 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*61879C>A VUS r.(=) p.(=) Unknown g.29560148G>T - NF1(NM_000267.3):c.3625G>T (p.V1209L) - NF1_002384 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*62006G>A benign r.(=) p.(=) Unknown g.29560021C>T - NF1(NM_001042492.2):c.3498C>T (p.=) - NF1_001022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*62156G>A likely benign r.(=) p.(=) Unknown g.29559871C>T - NF1(NM_001042492.2):c.3468C>T (p.N1156=) - NF1_001019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*62296A>G likely benign r.(=) p.(=) Unknown g.29559731T>C - NF1(NM_000267.3):c.3328T>C (p.(Phe1110Leu)) - NF1_002382 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*62864T>G likely benign r.(=) p.(=) Unknown g.29559163A>C - NF1(NM_001042492.2):c.3270A>C (p.=) - NF1_001866 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*62934T>A likely benign r.(=) p.(=) Unknown g.29559093A>T - NF1(NM_000267.3):c.3200A>T (p.(Asp1067Val)) - EVI2A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*62935_*62939del likely benign r.(=) p.(=) Unknown g.29559088_29559092del - NF1(NM_001042492.2):c.3198-3_3199delCAGAG (p.?) - NF1_002381 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*62935_*62939del likely benign r.(=) p.(=) Unknown g.29559088_29559092del - NF1(NM_001042492.2):c.3198-3_3199delCAGAG (p.?) - NF1_002381 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*62964_*62965del likely benign r.(=) p.(=) Unknown g.29559086_29559087del - NF1(NM_000267.3):c.3198-5_3198-4delTT - NF1_002380 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*64081dup VUS r.(?) p.(=) Unknown g.29557952dup - NF1(NM_000267.3):c.3197+2_3197+3insA (p.?), NF1(NM_000267.3):c.3197+8_3197+9insA, NF1(NM_001042492.2):c.3197+2_3197+3insA - NF1_001012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*64081dup likely benign r.(?) p.(=) Unknown g.29557952dup - NF1(NM_000267.3):c.3197+2_3197+3insA (p.?), NF1(NM_000267.3):c.3197+8_3197+9insA, NF1(NM_001042492.2):c.3197+2_3197+3insA - NF1_001012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*64487A>C VUS r.(=) p.(=) Unknown g.29557540T>G - NF1(NM_000267.3):c.3113+140T>G (p.?) - NF1_002482 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.*64741C>G likely pathogenic r.(=) p.(=) Unknown g.29557286G>C - NF1(NM_001042492.2):c.2999G>C (p.(Arg1000Pro)) - EVI2A_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*65190A>G benign r.(=) p.(=) Unknown g.29556837T>C - NF1(NM_001042492.2):c.2851-16T>C - NF1_001007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*65765T>C VUS r.(=) p.(=) Unknown g.29556262A>G - NF1(NM_000267.3):c.2629A>G (p.(Met877Val)) - NF1_002373 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*65850C>T benign r.(=) p.(=) Unknown g.29556177G>A - NF1(NM_001042492.2):c.2544G>A (p.=) - NF1_001004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.*65948G>A pathogenic r.(=) p.(=) Unknown g.29556079C>T - NF1(NM_000267.3):c.2446C>T (p.R816*) - NF1_000214 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*68542C>T benign r.(=) p.(=) Unknown g.29553485G>A - NF1(NM_000267.3):c.2034G>A (p.P678=) - NF1_000994 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*68544G>T VUS r.(=) p.(=) Unknown g.29553483C>A - NF1(NM_001042492.2):c.2032C>A (p.P678T) - EVI2A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*68549dup pathogenic r.(?) p.(=) Unknown g.29553484dup - NF1(NM_000267.3):c.2033dupC (p.I679Dfs*21) - NF1_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*68554G>A benign r.(=) p.(=) Unknown g.29553473C>T - NF1(NM_001042492.2):c.2022C>T (p.=) - NF1_000991 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*69773C>T likely benign r.(=) p.(=) Unknown g.29552254G>A - NF1(NM_001042492.2):c.1987G>A (p.Gly663Arg) - NF1_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*69860T>C likely benign r.(=) p.(=) Unknown g.29552167A>G - NF1(NM_000267.3):c.1900A>G (p.(Ile634Val), p.(=)) - NF1_002355 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*71477A>G likely benign r.(=) p.(=) Unknown g.29550550T>C - NF1(NM_000267.3):c.1810T>C (p.L604=) - NF1_000983 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*73008G>A benign r.(=) p.(=) Unknown g.29549019C>T - NF1(NM_001128147.2):c.*11C>T - NF1_002353 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*75933G>A likely benign r.(=) p.(=) Unknown g.29546094C>T - NF1(NM_000267.3):c.1599C>T (p.V533=) - NF1_002350 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.*75992G>A pathogenic r.(=) p.(=) Unknown g.29546035C>T - NF1(NM_001042492.2):c.1540C>T (p.Gln514*) - NF1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*93604G>A likely benign r.(=) p.(=) Unknown g.29528423C>T - NF1(NM_000267.3):c.1186-6C>T (p.(=)) - EVI2A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*93869T>C VUS r.(=) p.(=) Unknown g.29528158A>G - NF1(NM_000267.3):c.1166A>G (p.(His389Arg)) - NF1_000967 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*112386C>T likely benign r.(=) p.(=) Unknown g.29509641G>A - NF1(NM_000267.3):c.846G>A (p.Q282=) - NF1_001123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*113199_*113207dup likely benign r.(=) p.(=) Unknown g.29508827_29508835dup - NF1(NM_001042492.2):c.730+16_730+17insTTTTTTTTT - EVI2A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*113202_*113207dup likely benign r.(=) p.(=) Unknown g.29508830_29508835dup - NF1(NM_001042492.2):c.730+16_730+17insTTTTTT - EVI2A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*113207del benign r.(?) p.(=) Unknown g.29508835del - NF1(NM_001042492.2):c.730+17delT - NF1_002341 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*113207dup likely benign r.(?) p.(=) Unknown g.29508835dup - NF1(NM_001042492.2):c.730+17_730+18insT, NF1(NM_001042492.2):c.730+32dupT - NF1_002340 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*113207dup benign r.(?) p.(=) Unknown g.29508835dup - NF1(NM_001042492.2):c.730+17_730+18insT, NF1(NM_001042492.2):c.730+32dupT - NF1_002340 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*113252C>T benign r.(=) p.(=) Unknown g.29508775G>A - NF1(NM_000267.3):c.702G>A (p.L234=) - NF1_001081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*113297T>C VUS r.(=) p.(=) Unknown g.29508730A>G - NF1(NM_000267.3):c.657A>G (p.(=)) - EVI2A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*125026T>G likely benign r.(=) p.(=) Unknown g.29497001A>C - NF1(NM_000267.3):c.572A>C (p.(Lys191Thr)) - EVI2A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*125048_*125054del pathogenic r.(=) p.(=) Unknown g.29496973_29496979del - NF1(NM_000267.3):c.544_550delTATATCA (p.Y182Mfs*7) - NF1_000656 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*125070A>T benign r.(=) p.(=) Unknown g.29496957T>A - NF1(NM_001042492.2):c.528T>A (p.D176E) - NF1_001054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*125070A>T benign r.(=) p.(=) Unknown g.29496957T>A - NF1(NM_001042492.2):c.528T>A (p.D176E) - NF1_001054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*125070A>T likely benign r.(=) p.(=) Unknown g.29496957T>A - NF1(NM_001042492.2):c.528T>A (p.D176E) - NF1_001054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*125100_*125103del pathogenic r.(=) p.(=) Unknown g.29496928_29496931del - NF1(NM_000267.3):c.499_502delTGTT (p.C167Qfs*10) - NF1_000605 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*138919G>A benign r.(=) p.(=) Unknown g.29483108C>T - NF1(NM_001042492.2):c.168C>T (p.=) - NF1_000976 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*138980G>C likely benign r.(=) p.(=) Unknown g.29483047C>G - NF1(NM_001042492.2):c.107C>G (p.T36S) - NF1_002247 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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