NF1 — 14807 ClinVar variants

All ClinVar germline NF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 3134 flagged for review →

3017 Pathogenic · 579 Pathogenic/Likely pathogenic · 562 Likely pathogenic · 1284 Conflicting · 173 Benign · 443 Benign/Likely benign · 3159 Likely benign · 5590 Uncertain significance

Full NF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 3134

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 18

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

NF1 p.Ala2274Ser Pathogenic Multiple submitters
Cardiovascular phenotype
NF1 p.Gln950His Pathogenic Multiple submitters
Cardiovascular phenotype
NF1 p.Glu775Ala Pathogenic Multiple submitters
neurofibromatosis type 1
NF1 p.Gly1166Ser Pathogenic/Likely pathogenic Multiple submitters
Cardiovascular phenotype
NF1 p.His1143Tyr Pathogenic/Likely pathogenic Multiple submitters
neurofibromatosis type 1
NF1 p.Lys2273Arg Pathogenic/Likely pathogenic Multiple submitters
Cardiovascular phenotype
NF1 p.Lys354Arg Pathogenic/Likely pathogenic Multiple submitters
neurofibromatosis type 1
NF1 p.Lys583Arg Pathogenic/Likely pathogenic Multiple submitters
neurofibromatosis type 1
NF1 p.Pro2282Leu Likely pathogenic Multiple submitters
neurofibromatosis type 1
NF1 p.Ser1489Gly Pathogenic Multiple submitters
hereditary neoplastic syndrome
NF1 p.Tyr489Cys Pathogenic Multiple submitters
Autosomal dominant NF1-related disorders
NF1 p.Val1093Met Pathogenic Multiple submitters
hereditary neoplastic syndrome
NF1 p.Asn1154Thr Pathogenic Single submitter
neurofibromatosis type 1
NF1 p.Gln1017Glu Likely pathogenic Single submitter
hereditary neoplastic syndrome
NF1 p.His2658Tyr Likely pathogenic Single submitter
neurofibromatosis type 1
NF1 p.Ser1500Gly Pathogenic Single submitter
neurofibromatosis type 1
NF1 p.Gln1101Leu Likely pathogenic No assertion criteria
neurofibromatosis type 1
NF1 p.Tyr2192Asn Pathogenic No assertion criteria
neurofibromatosis type 1

Predictors agree, ClinVar conflicts 525

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 525

NF1 p.Ala1024Thr Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Ala1056Thr Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Ala1057Thr Conflicting Single submitter
neurofibromatosis type 1
NF1 p.Ala1081Gly Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Ala1125Val Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Ala1148Pro Conflicting Single submitter
neurofibromatosis type 1
NF1 p.Ala1202Ser Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Ala1224Val Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Ala1281Thr Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Ala1349Asp Conflicting Single submitter
neurofibromatosis type 1
NF1 p.Ala1450Ser Conflicting Single submitter
Male infertility with azoospermia or oligozoospermia due to single gene mutation
NF1 p.Ala1450Thr Conflicting Single submitter
juvenile myelomonocytic leukemia
NF1 p.Ala1474Val Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Ala1540Glu Conflicting Single submitter
neurofibromatosis-Noonan syndrome
NF1 p.Ala1601Thr Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Ala1716Thr Conflicting Single submitter
neurofibromatosis type 1
NF1 p.Ala1728Val Conflicting Single submitter
neurofibromatosis type 1
NF1 p.Ala1732Pro Conflicting Single submitter
neurofibromatosis type 1
NF1 p.Ala188Val Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Ala1902Val Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Ala2028Thr Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Ala2037Thr Conflicting Single submitter
Floppy infant
NF1 p.Ala2336Ser Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Ala2389Pro Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Ala2404Val Conflicting Single submitter
neurofibromatosis type 1
NF1 p.Ala2505Thr Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Ala2518Thr Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Ala2532Thr Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Ala2617Val Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Ala2765Thr Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Ala2827Ser Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Ala2827Thr Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Ala308Gly Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Ala330Pro Conflicting Single submitter
neurofibromatosis type 1
NF1 p.Ala565Thr Conflicting Single submitter
neurofibromatosis type 1
NF1 p.Ala617Thr Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Ala671Gly Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Ala671Thr Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Ala753Thr Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Ala797Val Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Ala804Pro Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Ala861Pro Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Ala887Thr Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Arg1000Cys Conflicting Single submitter
neurofibromatosis type 1
NF1 p.Arg1066Lys Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Arg1176Ile Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Arg1250Trp Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Arg1337Gln Conflicting Single submitter
neurofibromatosis type 1
NF1 p.Arg1362Gln Conflicting Single submitter
NF1-related disorder
NF1 p.Arg1476Cys Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Arg1509His Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Arg1534Gln Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Arg156Cys Conflicting Single submitter
neurofibromatosis type 1
NF1 p.Arg156His Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Arg156Leu Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Arg1705Lys Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Arg1769Pro Conflicting Single submitter
neurofibromatosis type 1
NF1 p.Arg1828Gln Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Arg1828Pro Conflicting Single submitter
neurofibromatosis type 1
NF1 p.Arg1828Trp Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Arg1830His Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Arg1846Trp Conflicting Single submitter
neurofibromatosis type 1
NF1 p.Arg1870Pro Conflicting Single submitter
neurofibromatosis type 1
NF1 p.Arg2083Cys Conflicting Single submitter
NF1-related disorder
NF1 p.Arg2150Thr Conflicting Single submitter
NF1-related disorder
NF1 p.Arg2258Gln Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Arg2349Cys Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Arg2349His Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Arg2349Leu Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Arg2486Gly Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Arg2517Gln Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Arg262Cys Conflicting Single submitter
neurofibromatosis type 1
NF1 p.Arg2637Gln Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Arg304Gln Conflicting Single submitter
juvenile myelomonocytic leukemia
NF1 p.Arg385Cys Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Arg440Gln Conflicting Single submitter
Watson syndrome
NF1 p.Arg440Pro Conflicting Single submitter
neurofibromatosis type 1
NF1 p.Arg619Gly Conflicting Single submitter
neurofibromatosis type 1
NF1 p.Arg652His Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Arg659Gln Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Arg659Trp Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Arg681Gln Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Arg914Trp Conflicting Single submitter
neurofibromatosis-Noonan syndrome
NF1 p.Asn1154Ser Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Asn1278Tyr Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Asn1415Asp Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Asn1415His Conflicting Single submitter
neurofibromatosis type 1
NF1 p.Asn1451Ser Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Asn1451Thr Conflicting Single submitter
neurofibromatosis type 1
NF1 p.Asn171Ser Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Asn1742Ser Conflicting Single submitter
neurofibromatosis type 1
NF1 p.Asn1904Thr Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Asn2042Asp Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Asn2306Ile Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Asn2329Asp Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Asn2352Ser Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Asn2381Ser Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Asn2383Ser Conflicting Single submitter
neurofibromatosis type 1
NF1 p.Asn2421Ser Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Asn2425Ser Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Asn2602Ser Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Asn2775Ser Conflicting Single submitter
NF1-related disorder
NF1 p.Asn2775Thr Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Asn2833Asp Conflicting Single submitter
neurofibromatosis type 1
NF1 p.Asn2833His Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Asn2833Ser Conflicting Single submitter
neurofibromatosis type 1
NF1 p.Asn295Ser Conflicting Single submitter
neurofibromatosis type 1
NF1 p.Asn29Ser Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Asn335Ser Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Asn359Ser Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Asn39Ser Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Asn441Ser Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Asn45Ser Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Asn639Ser Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Asn664Ser Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Asn730His Conflicting Single submitter
neurofibromatosis type 1
NF1 p.Asn730Thr Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Asn730Tyr Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Asn736His Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Asn736Ser Conflicting Single submitter
neurofibromatosis type 1
NF1 p.Asn746Ser Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Asn793Thr Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Asn857Asp Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Asn857His Conflicting Single submitter
neurofibromatosis type 1
NF1 p.Asn857Ser Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Asn974Ser Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Asp1058Asn Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Asp1059Asn Conflicting Single submitter
neurofibromatosis type 1
NF1 p.Asp1060Glu Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Asp1302Glu Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Asp176Gly Conflicting Single submitter
neurofibromatosis type 1
NF1 p.Asp1849Gly Conflicting Single submitter
neurofibromatosis type 1
NF1 p.Asp1849Val Conflicting Single submitter
NF1-related disorder
NF1 p.Asp186Tyr Conflicting Single submitter
neurofibromatosis type 1
NF1 p.Asp2008Gly Conflicting Single submitter
neurofibromatosis type 1
NF1 p.Asp2008Val Conflicting Single submitter
neurofibromatosis type 1
NF1 p.Asp2465Gly Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Asp2482Asn Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Asp2482Glu Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Asp2795Asn Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Asp283Gly Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Asp283Tyr Conflicting Single submitter
Cardiovascular phenotype
NF1 p.Asp483Glu Conflicting Single submitter
neurofibromatosis type 1
NF1 p.Asp556Glu Conflicting Single submitter
neurofibromatosis type 1
NF1 p.Asp559Glu Conflicting Single submitter
neurofibromatosis type 1
NF1 p.Asp564Asn Conflicting Single submitter
neurofibromatosis type 1
NF1 p.Asp618Asn Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Asp827Asn Conflicting Single submitter
neurofibromatosis type 1
NF1 p.Cys1016Phe Conflicting Single submitter
hereditary neoplastic syndrome
NF1 p.Cys1367Arg Conflicting Single submitter
neurofibromatosis type 1

Predicted LoF vs a conflicting call 23

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

NF1 c.1062+2dup Conflicting Single submitter
neurofibromatosis type 1
NF1 c.1062+2T>G Conflicting Single submitter
Cardiovascular phenotype
NF1 c.1260+2dup Conflicting Single submitter
neurofibromatosis type 1
NF1 c.1393-1G>T Conflicting Single submitter
neurofibromatosis type 1
NF1 c.1393-2dup Conflicting Single submitter
Cardiovascular phenotype
NF1 c.1527+2dup Conflicting Single submitter
neurofibromatosis type 1
NF1 c.1528-1G>T Conflicting Single submitter
Cardiovascular phenotype
NF1 c.2409+2T>C Conflicting Single submitter
hereditary neoplastic syndrome
NF1 c.2850_2850+2dup Conflicting Single submitter
neurofibromatosis type 1
NF1 c.289-1G>A Conflicting Single submitter
neurofibromatosis type 1
NF1 c.3113+2T>C Conflicting Single submitter
neurofibromatosis type 1
NF1 c.3198-2A>C Conflicting Single submitter
neurofibromatosis type 1
NF1 c.4577+2dup Conflicting Single submitter
neurofibromatosis type 1
NF1 c.5812+2dup Conflicting Single submitter
neurofibromatosis type 1
NF1 c.61-1G>T Conflicting Single submitter
hereditary neoplastic syndrome
NF1 c.6427+2T>C Conflicting Single submitter
hereditary neoplastic syndrome
NF1 c.7063-4_7063-2del Conflicting Single submitter
Cardiovascular phenotype
NF1 c.7322-2A>G Conflicting Single submitter
neurofibromatosis type 1
NF1 c.7971-1G>T Conflicting Single submitter
neurofibromatosis type 1
NF1 c.888+2T>C Conflicting Single submitter
neurofibromatosis type 1
NF1 p.Leu983fs Conflicting Single submitter
neurofibromatosis type 1
NF1 p.Phe358fs Conflicting Single submitter
neurofibromatosis type 1
NF1 p.Ser2260fs Conflicting Single submitter
neurofibromatosis type 1

Predictors lean, ClinVar uncertain 2071

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 2071

NF1 p.Ala1024Val Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Ala1056Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Ala1057Glu Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Ala1148Thr Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Ala1197Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Ala1224Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Ala1228Val Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Ala1240Val Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Ala1281Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Ala1408Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Ala1450Asp Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Ala1450Val Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Ala1483Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Ala1544Glu Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Ala1676Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Ala1732Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Ala1761Pro Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Ala1872Val Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Ala188Glu Uncertain significance Multiple submitters
Inborn genetic diseases
NF1 p.Ala188Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Ala1916Pro Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Ala2019Pro Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Ala2028Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Ala2039Val Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Ala2098Pro Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Ala2174Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Ala219Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Ala2333Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Ala2404Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Ala2407Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Ala2505Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Ala2505Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Ala2506Asp Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Ala2573Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Ala2573Thr Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Ala2765Val Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Ala2818Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Ala371Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Ala431Val Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Ala450Thr Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Ala463Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Ala617Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Ala690Ser Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Ala690Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Ala74Val Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Ala754Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Ala754Thr Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Ala75Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Ala761Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Ala771Val Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Ala782Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Ala782Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Ala782Thr Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Ala805Thr Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Ala861Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Ala887Gly Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Ala887Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Ala966Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Ala966Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Ala986Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Arg1038Met Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Arg103Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Arg1176Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Arg1176Thr Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Arg1241Gly Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Arg1325Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Arg1362Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Arg1437Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Arg1509Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Arg1526Ser Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Arg160Gly Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Arg160Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Arg1769Gly Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Arg1846Gln Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Arg1846Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Arg2194Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Arg2424Gly Uncertain significance Multiple submitters
juvenile myelomonocytic leukemia
NF1 p.Arg2486Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Arg2571Lys Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Arg262His Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Arg262Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Arg416Pro Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Arg652Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Arg652Pro Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Asn1156Tyr Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Asn1278Ser Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Asn1335Lys Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Asn1335Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Asn1335Thr Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
NF1 p.Asn1335Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Asn1465Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Asn1885Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Asn222Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Asn2286His Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Asn2329Ser Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Asn2383Thr Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Asn2385Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Asn2387Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Asn2432Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Asn2533Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Asn2676Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Asn2709Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Asn2798Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Asn2833Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Asn510Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Asn67Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Asn839Ile Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Asn857Ile Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Asn886Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Asn994Ser Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Asp1059Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Asp1067Gly Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Asp1091Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Asp1158Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Asp1172Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Asp1237Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Asp1269Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Asp1302Asn Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Asp1302Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Asp1322Asn Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Asp1322Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Asp1322Gly Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Asp1322His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Asp1322Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Asp1485Tyr Uncertain significance Multiple submitters
juvenile myelomonocytic leukemia
NF1 p.Asp1501Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Asp1527Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Asp1527Val Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Asp1672Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Asp1849His Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Asp1976His Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Asp2077Val Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Asp2219Val Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Asp2227Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Asp2227Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Asp251Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Asp254Gly Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Asp2632Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Asp2635Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Asp2747Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Asp283Val Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Asp290Asn Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Asp559Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Asp618Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Asp633Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Asp668Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Asp779Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Asp888Gly Uncertain significance Multiple submitters
juvenile myelomonocytic leukemia
NF1 p.Asp88His Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Asp973Asn Uncertain significance Multiple submitters
Cardiovascular phenotype

Predictors split 497

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 497

NF1 c.4836-21229G>C Benign/Likely benign Multiple submitters
neurofibromatosis type 1
NF1 p.Ala1240Ser Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Ala1349Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Ala1349Val Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Ala1417Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Ala1917Asp Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Ala2215Val Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Ala2624Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Ala2646Val Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Ala2715Val Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Ala321Val Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Ala323Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Ala3Val Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Ala548Thr Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Ala548Val Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Ala683Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Arg1136Trp Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Arg1137Ser Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Arg1142Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Arg1477Gly Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Arg1477Thr Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Arg1958His Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Arg2053Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Arg2235Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Arg2556Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Arg2594Pro Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Arg2825Ser Uncertain significance Multiple submitters
juvenile myelomonocytic leukemia
NF1 p.Arg2832Leu Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Arg69Gly Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Arg764Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Arg815Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Arg816Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Arg816Gly Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Arg997Lys Pathogenic/Likely pathogenic Multiple submitters
juvenile myelomonocytic leukemia
NF1 p.Asn1054Lys Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Asn1229Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Asn1652Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Asn2091Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Asn2387Lys Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Asn905Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Asp1750Glu Uncertain significance Multiple submitters
juvenile myelomonocytic leukemia
NF1 p.Asp2077Asn Uncertain significance Multiple submitters
juvenile myelomonocytic leukemia
NF1 p.Asp2346Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Asp2375Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Asp2550His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Cys721Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Gln20His Likely pathogenic Multiple submitters
Cardiovascular phenotype
NF1 p.Gln2302His Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Gln2686His Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Gln452Leu Uncertain significance Multiple submitters
juvenile myelomonocytic leukemia
NF1 p.Gln83His Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Glu1327Gly Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Glu1333Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Glu2276Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Glu2357Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Glu2448Asp Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Glu544Lys Uncertain significance Multiple submitters
NF1-related disorder
NF1 p.Gly2281Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Gly367Asp Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Gly515Glu Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.His1251Arg Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.His1748Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.His2815Gln Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.His2815Tyr Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.His712Gln Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.His906Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Ile1709Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Ile1939Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Ile1979Val Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Ile2296Thr Uncertain significance Multiple submitters
neurofibromatosis-Noonan syndrome
NF1 p.Ile573Met Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Ile838Met Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Leu1173Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Leu1196Phe Pathogenic/Likely pathogenic Multiple submitters
hereditary neoplastic syndrome
NF1 p.Leu1196Pro Pathogenic/Likely pathogenic Multiple submitters
neurofibromatosis type 1
NF1 p.Leu1196Val Pathogenic/Likely pathogenic Multiple submitters
neurofibromatosis type 1
NF1 p.Leu1860Val Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Leu2073Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Leu2100Ile Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Leu2199Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Leu2210Phe Uncertain significance Multiple submitters
neurofibromatosis-Noonan syndrome
NF1 p.Leu2325Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Leu2417Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Leu2605Phe Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Leu2619Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Leu2776Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Leu508Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Leu597Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Leu604Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Leu611Phe Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Leu732Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Leu847Phe Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Lys1714Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Lys1745Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Lys1844Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Lys2720Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Lys2823Asn Benign/Likely benign Multiple submitters
Cardiovascular phenotype
NF1 p.Lys2837Asn Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Lys305Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Lys354Asn Pathogenic/Likely pathogenic Multiple submitters
neurofibromatosis type 1
NF1 p.Lys757Asn Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Lys810Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Lys814Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Met68Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Met817Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Met968Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Phe1669Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Phe2187Leu Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Phe2351Tyr Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Phe2650Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Phe2654Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Phe468Leu Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Phe694Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Pro1303Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Pro1323Leu Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Pro2680Leu Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Ser1072Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Ser1318Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Ser137Cys Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Ser155Cys Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Ser1561Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Ser1567Leu Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Ser1591Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Ser1754Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Ser1823Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Ser1864Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Ser1999Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Ser2013Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Ser2355Arg Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Ser2515Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Ser2647Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Ser2670Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Ser2687Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Ser331Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Ser465Asn Uncertain significance Multiple submitters
neurofibromatosis-Noonan syndrome
NF1 p.Ser574Asn Pathogenic/Likely pathogenic Multiple submitters
hereditary neoplastic syndrome
NF1 p.Ser574Thr Pathogenic Multiple submitters
Cardiovascular phenotype
NF1 p.Thr2299Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Thr2630Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Thr405Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Tyr1422Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Tyr1634Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
NF1 p.Tyr863Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Val1393Leu Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Val1609Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Val2250Leu Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Val2318Ala Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Val2320Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
NF1 p.Val2449Ala Uncertain significance Multiple submitters
neurofibromatosis type 1
NF1 p.Val2609Leu Uncertain significance Multiple submitters
neurofibromatosis type 1