"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 404429	NM_001042492.3(NF1):c.1A>G (p.Met1Val)	MIR4733HG, LOC111811965 +1 more (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic
Select item 230597	NM_001042492.3(NF1):c.31C>T (p.Gln11Ter)	MIR4733HG, LOC111811965 +1 more (Q11*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 835685	NM_001042492.3(NF1):c.38T>C (p.Val13Ala)	LOC111811965, MIR4733HG +1 more (V13A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 576465	NM_001042492.3(NF1):c.58C>T (p.Gln20Ter)	LOC111811965, MIR4733HG +1 more (Q20*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 663201	NM_001042492.3(NF1):c.60+1G>C	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (splice donor variant)	Neurofibromatosis, type 1	GPathogenic/Likely pathogenic
Select item 322566	NM_001042492.3(NF1):c.61-4del	NF1	Deletion (intron variant)	not specified +7 more	GBenign/Likely benign
Select item 186329	NM_001042492.3(NF1):c.91C>T (p.His31Tyr)	NF1 (H31Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 996489	NM_001042492.3(NF1):c.108_111dup (p.His38Ter)	NF1 (H38*)	Duplication (nonsense)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 996371	NM_001042492.3(NF1):c.162del (p.Val54_Ile55insTer)	NF1	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 184126	NM_001042492.3(NF1):c.168C>T (p.Ser56=)	NF1	Single nucleotide variant (synonymous variant)	Café-au-lait macules with pulmonary stenosis +7 more	GBenign
Select item 996458	NM_001042492.3(NF1):c.174C>T (p.Leu58=)	NF1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 578995	NM_001042492.3(NF1):c.204+3_204+6del	NF1	Deletion (splice donor variant)	Neurofibromatosis, type 1 +2 more	GPathogenic/Likely pathogenic
Select item 265442	NM_001042492.3(NF1):c.204+1G>A	NF1	Single nucleotide variant (splice donor variant)	Neurofibromatosis, type 1 +4 more	GPathogenic/Likely pathogenic
Select item 996426	NM_001042492.3(NF1):c.205-2A>C	NF1	Single nucleotide variant (splice acceptor variant)	Neurofibromatosis, type 1	GPathogenic
Select item 545744	NM_001042492.3(NF1):c.233del (p.Asn78fs)	NF1 (N78fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 68320	NM_001042492.3(NF1):c.245C>T (p.Ser82Phe)	NF1 (S82F)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 642883	NM_001042492.3(NF1):c.247C>T (p.Gln83Ter)	NF1 (Q83*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 996466	NM_001042492.3(NF1):c.270_272dup (p.Glu91dup)	NF1	Duplication (inframe_insertion)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 404591	NM_001042492.3(NF1):c.288+1del	NF1	Deletion (splice donor variant)	Neurofibromatosis, type 1 +3 more	GPathogenic
Select item 996382	NM_001042492.3(NF1):c.339dup (p.Leu114fs)	NF1 (L114fs)	Duplication (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 141237	NM_001042492.3(NF1):c.340C>T (p.Leu114=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, familial spinal +7 more	GBenign/Likely benign
Select item 184262	NM_001042492.3(NF1):c.369C>G (p.Thr123=)	NF1	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign/Likely benign
Select item 996512	NM_001042492.3(NF1):c.454dup (p.Ala152fs)	NF1 (A152fs)	Duplication (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 457722	NM_001042492.3(NF1):c.479+1G>A	NF1	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic
Select item 185021	NM_001042492.3(NF1):c.499_502del (p.Cys167fs)	NF1 (C167fs)	Microsatellite (frameshift variant)	Neurofibromatosis, type 1 +5 more	GPathogenic
Select item 41673	NM_001042492.3(NF1):c.528T>A (p.Asp176Glu)	NF1 (D176E)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 944255	NM_001042492.3(NF1):c.540dup (p.Gln181fs)	NF1 (Q181fs)	Duplication (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 492874	NM_001042492.3(NF1):c.541C>T (p.Gln181Ter)	NF1 (Q181*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic
Select item 996387	NM_001042492.3(NF1):c.573del (p.Lys191fs)	NF1 (K191fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 40093	NM_001042492.3(NF1):c.574C>T (p.Arg192Ter)	NF1 (R192*)	Single nucleotide variant (nonsense)	Juvenile myelomonocytic leukemia +8 more	GPathogenic
Select item 141341	NM_001042492.3(NF1):c.575G>A (p.Arg192Gln)	NF1 (R192Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 547567	NM_001042492.3(NF1):c.586+1G>A	NF1	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic
Select item 457770	NM_001042492.3(NF1):c.587-2A>G	NF1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 431567	NM_001042492.3(NF1):c.610dup (p.Leu204fs)	NF1 (L204fs)	Duplication (frameshift variant)	Neurofibromatosis, type 1	GPathogenic/Likely pathogenic
Select item 547569	NM_001042492.3(NF1):c.655-2A>C	NF1	Single nucleotide variant (splice acceptor variant)	Neurofibromatosis, type 1	GPathogenic/Likely pathogenic
Select item 547570	NM_001042492.3(NF1):c.667T>C (p.Trp223Arg)	NF1 (W223R)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 449421	NM_001042492.3(NF1):c.724dup (p.Met242fs)	NF1 (M242fs)	Duplication (frameshift variant)	Neurofibromatosis, type 1 +1 more	GPathogenic
Select item 215725	NM_001042492.3(NF1):c.731-6A>C	NF1	Single nucleotide variant (intron variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 996510	NM_001042492.3(NF1):c.731-1G>T	NF1	Single nucleotide variant (splice acceptor variant)	Neurofibromatosis, type 1 +2 more	GPathogenic/Likely pathogenic
Select item 996418	NM_001042492.3(NF1):c.737C>A (p.Ala246Glu)	NF1 (A246E)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 572042	NM_001042492.3(NF1):c.746T>G (p.Leu249Arg)	NF1 (L249R)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +2 more	GUncertain significance
Select item 996492	NM_001042492.3(NF1):c.761A>G (p.Asp254Gly)	NF1 (D254G)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +2 more	GUncertain significance
Select item 420075	NM_001042492.3(NF1):c.801G>A (p.Trp267Ter)	NF1 (W267*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 664218	NM_001042492.3(NF1):c.808C>T (p.Gln270Ter)	NF1 (Q270*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 996495	NM_001042492.3(NF1):c.821T>C (p.Leu274Pro)	NF1 (L274P)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 184123	NM_001042492.3(NF1):c.846G>A (p.Gln282=)	NF1	Single nucleotide variant (synonymous variant)	Café-au-lait macules with pulmonary stenosis +8 more	GBenign/Likely benign
Select item 803340	NM_001042492.3(NF1):c.888+1G>T	NF1	Single nucleotide variant (splice donor variant)	Neurofibromatosis, type 1 +1 more	GPathogenic
Select item 431573	NM_001042492.3(NF1):c.888+1G>C	NF1	Single nucleotide variant (splice donor variant)	Neurofibromatosis, type 1	GPathogenic
Select item 431574	NM_001042492.3(NF1):c.889-1G>A	NF1	Single nucleotide variant (splice acceptor variant)	Neurofibromatosis, type 1	GPathogenic/Likely pathogenic
Select item 996408	NM_001042492.3(NF1):c.899T>C (p.Leu300Pro)	NF1 (L300P)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +1 more	GUncertain significance
Select item 187722	NM_001042492.3(NF1):c.910C>T (p.Arg304Ter)	NF1 (R304*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +8 more	GPathogenic
Select item 996497	NM_001042492.3(NF1):c.978_980del (p.Leu327del)	NF1 (L327del)	Deletion (inframe_deletion)	Neurofibromatosis, type 1	GUncertain significance
Select item 964493	NM_001042492.3(NF1):c.987A>G (p.Lys329=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1	GConflicting classifications of pathogenicity
Select item 996500	NM_001042492.3(NF1):c.999C>A (p.Tyr333Ter)	NF1 (Y333*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1	GPathogenic
Select item 547579	NM_001042492.3(NF1):c.1019_1020del (p.Ser340fs)	NF1 (S340fs)	Microsatellite (frameshift variant)	Neurofibromatosis, type 1 +6 more	GPathogenic/Likely pathogenic OLikely oncogenic
Select item 545745	NM_001042492.3(NF1):c.1020dup (p.Val341fs)	NF1 (V341fs)	Duplication (frameshift variant)	not provided +5 more	GPathogenic
Select item 996374	NM_001042492.3(NF1):c.1021_1022del (p.Val341fs)	NF1 (V341fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 431975	NM_001042492.3(NF1):c.1039C>T (p.Gln347Ter)	NF1 (Q347*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 996378	NM_001042492.3(NF1):c.1062+2del	NF1	Deletion (splice donor variant)	Neurofibromatosis, type 1	GPathogenic
Select item 547581	NM_001042492.3(NF1):c.1073_1074insA (p.Phe358fs)	NF1 (F358fs)	Insertion (frameshift variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 996399	NM_001042492.3(NF1):c.1129_1136del (p.Ile377fs)	NF1 (I377fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 996484	NM_001042492.3(NF1):c.1181_1182dup (p.Lys395fs)	NF1 (K395fs)	Duplication (frameshift variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 457519	NM_001042492.3(NF1):c.1183_1185+2del	NF1	Deletion (splice donor variant)	Neurofibromatosis, type 1	GPathogenic/Likely pathogenic
Select item 581467	NM_001042492.3(NF1):c.1185G>A (p.Lys395=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 962619	NM_001042492.3(NF1):c.1185+1G>T	NF1	Single nucleotide variant (splice donor variant)	Neurofibromatosis, type 1 +2 more	GPathogenic/Likely pathogenic
Select item 219572	NM_001042492.3(NF1):c.1185+1G>A	NF1	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 996452	NM_001042492.3(NF1):c.1185+5G>A	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 996451	NM_001042492.3(NF1):c.1241T>G (p.Leu414Arg)	NF1 (L414R)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 404597	NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter)	NF1 (R416*)	Single nucleotide variant (nonsense)	not provided +7 more	GPathogenic
Select item 996518	NM_001042492.3(NF1):c.1254del (p.Thr419fs)	NF1 (T419fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 848717	NM_001042492.3(NF1):c.1260+1G>C	NF1	Single nucleotide variant (splice donor variant)	Neurofibromatosis, type 1 +3 more	GPathogenic/Likely pathogenic
Select item 836228	NM_001042492.3(NF1):c.1260+2T>C	NF1	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 230673	NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter)	NF1 (R440*)	Single nucleotide variant (nonsense)	Neurofibrmatosis type 1 +8 more	GPathogenic
Select item 996383	NM_001042492.3(NF1):c.1372_1373delinsG (p.Pro458fs)	NF1 (P458fs)	Indel (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 237514	NM_001042492.3(NF1):c.1381C>T (p.Arg461Ter)	NF1 (R461*)	Single nucleotide variant (nonsense)	NF1-related disorder +4 more	GPathogenic
Select item 996431	NM_001042492.3(NF1):c.1414del (p.Lys471_Val472insTer)	NF1	Deletion (nonsense)	Neurofibromatosis, type 1	GPathogenic
Select item 996511	NM_001042492.3(NF1):c.1440del (p.Lys480fs)	NF1 (K480fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 354	NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys)	NF1 (Y489C)	Single nucleotide variant (missense variant)	not provided +8 more	GPathogenic
Select item 547592	NM_001042492.3(NF1):c.1496T>G (p.Leu499Arg)	NF1 (L499R)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 503701	NM_001042492.3(NF1):c.1527+1G>A	NF1	Single nucleotide variant (splice donor variant)	Neurofibromatosis-Noonan syndrome +2 more	GPathogenic
Select item 404566	NM_001042492.3(NF1):c.1527+5G>A	NF1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 346	NM_001042492.3(NF1):c.1541_1542del (p.Gln514fs)	NF1 (Q514fs)	Deletion (frameshift variant)	Neurofibromatosis-Noonan syndrome +5 more	GPathogenic
Select item 68302	NM_001042492.3(NF1):c.1595T>C (p.Leu532Pro)	NF1 (L532P)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GConflicting classifications of pathogenicity
Select item 184523	NM_001042492.3(NF1):c.1599C>G (p.Val533=)	NF1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 547596	NM_001042492.3(NF1):c.1607C>A (p.Ser536Ter)	NF1 (S536*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1	GPathogenic
Select item 996419	NM_001042492.3(NF1):c.1641+1G>C	NF1	Single nucleotide variant (splice donor variant)	Neurofibromatosis, type 1	GPathogenic
Select item 996460	NM_001042492.3(NF1):c.1655T>C (p.Leu552Pro)	NF1 (L552P)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GConflicting classifications of pathogenicity
Select item 996525	NM_001042492.3(NF1):c.1722-2A>C	NF1	Single nucleotide variant (splice acceptor variant)	Neurofibromatosis, type 1	GPathogenic/Likely pathogenic
Select item 996444	NM_001042492.3(NF1):c.1738del (p.Tyr580fs)	NF1 (Y580fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic/Likely pathogenic
Select item 68304	NM_001042492.3(NF1):c.1733T>G (p.Leu578Arg)	NF1 (L578R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely pathogenic
Select item 68306	NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg)	NF1 (K583R)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 561952	NM_001042492.3(NF1):c.1754T>G (p.Leu585Ter)	NF1 (L585*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1 +1 more	GPathogenic
Select item 186215	NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs)	NF1	Deletion (frameshift variant)	Neurofibromatosis, type 1 +5 more	GPathogenic
Select item 457553	NM_001042492.3(NF1):c.1882dup (p.Tyr628fs)	NF1 (Y628fs)	Duplication (frameshift variant)	Cardiovascular phenotype +2 more	GPathogenic
Select item 964171	NM_001042492.3(NF1):c.1888del (p.Gly629_Val630insTer)	NF1	Deletion (nonsense)	Neurofibromatosis, type 1	GPathogenic
Select item 68308	NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg)	NF1 (G629R)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 996476	NM_001042492.3(NF1):c.1896_1912del (p.Cys632fs)	NF1 (C632fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 996380	NM_001042492.3(NF1):c.1895dup (p.Cys632fs)	NF1 (C632fs)	Duplication (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 527439	NM_001042492.3(NF1):c.1912G>T (p.Gly638Ter)	NF1 (G638*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1	GPathogenic
Select item 231483	NM_001042492.3(NF1):c.1921A>G (p.Ser641Gly)	NF1 (S641G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity

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