"3billion"[submitter] AND "NF1"[gene] - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1459748	NM_001042492.3(NF1):c.27G>A (p.Trp9Ter)	LOC111811965, MIR4733HG +1 more (W9*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1 +1 more	GPathogenic
Select item 381605	NM_001042492.3(NF1):c.311T>G (p.Leu104Ter)	NF1 (L104*)	Single nucleotide variant (nonsense)	not provided +1 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 1526250	NM_001042492.3(NF1):c.567del (p.Lys189fs)	NF1 (K189fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GLikely pathogenic
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 1687600	NM_001042492.3(NF1):c.586+4dup	NF1	Duplication (intron variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 404420	NM_001042492.3(NF1):c.654+1G>T	NF1	Single nucleotide variant (splice donor variant)	not provided +4 more	GPathogenic/Likely pathogenic
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 1333709	NM_001042492.3(NF1):c.819_821del (p.Leu274del)	NF1 (L274del)	Deletion (inframe_deletion)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
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 1765006	NM_001042492.3(NF1):c.889-1del	NF1	Deletion (splice acceptor variant)	Neurofibromatosis-Noonan syndrome +2 more	GPathogenic/Likely pathogenic
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 1687245	NM_001042492.3(NF1):c.1038del (p.Gln347fs)	NF1 (Q347fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 428998	NM_001042492.3(NF1):c.1062G>A (p.Lys354=)	NF1	Single nucleotide variant (synonymous variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 660278	NM_001042492.3(NF1):c.1062+1G>A	NF1	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
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 354	NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys)	NF1 (Y489C)	Single nucleotide variant (missense variant)	not provided +8 more	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 322570	NM_001042492.3(NF1):c.1649T>C (p.Leu550Pro)	NF1 (L550P)	Single nucleotide variant (missense variant)	Neurofibromatosis-Noonan syndrome +3 more	GConflicting classifications of pathogenicity
Select item 996444	NM_001042492.3(NF1):c.1738del (p.Tyr580fs)	NF1 (Y580fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic/Likely pathogenic
Select item 186215	NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs)	NF1	Deletion (frameshift variant)	Neurofibromatosis, type 1 +5 more	GPathogenic
Select item 188280	NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter)	NF1 (R681*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1 +8 more	GPathogenic
Select item 1354203	NM_001042492.3(NF1):c.2246C>G (p.Ser749Ter)	NF1 (S749*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1	GPathogenic
Select item 1320213	NM_001042492.3(NF1):c.2248del (p.Thr750fs)	NF1 (T750fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 655108	NM_001042492.3(NF1):c.2251G>A (p.Gly751Arg)	NF1 (G751R)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +3 more	GPathogenic/Likely pathogenic
Select item 1687392	NM_001042492.3(NF1):c.2344dup (p.Ala782fs)	NF1 (A782fs)	Duplication (frameshift variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 68319	NM_001042492.3(NF1):c.2352G>C (p.Trp784Cys)	NF1 (W784C)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GPathogenic/Likely pathogenic
Select item 428943	NM_001042492.3(NF1):c.2483del (p.Leu828fs)	NF1 (L828fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 573019	NM_001042492.3(NF1):c.2540T>G (p.Leu847Arg)	NF1 (L847R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic
Select item 547617	NM_001042492.3(NF1):c.2850+1G>A	NF1	Single nucleotide variant (splice donor variant)	Neurofibromatosis-Noonan syndrome +1 more	GPathogenic
Select item 363	NM_001042492.3(NF1):c.2970_2972del (p.Met992del)	NF1 (M992del)	Deletion (inframe_deletion)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic/Likely pathogenic
Select item 1705509	NM_001042492.3(NF1):c.2992T>C (p.Tyr998His)	NF1 (Y998H)	Single nucleotide variant (missense variant)	Neurofibromatosis-Noonan syndrome	GUncertain significance
Select item 1687465	NM_001042492.3(NF1):c.3082_3086del (p.Asp1028fs)	NF1 (D1028fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 1705388	NM_001042492.3(NF1):c.3260dup (p.Pro1087_Glu1088insTer)	NF1	Duplication (frameshift variant)	Neurofibromatosis-Noonan syndrome	GLikely pathogenic
Select item 428971	NM_001042492.3(NF1):c.3525_3526del (p.Arg1176fs)	NF1 (R1176fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1 +2 more	GPathogenic
Select item 2444038	NM_001042492.3(NF1):c.3676del (p.Ala1226fs)	NF1 (A1226fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 1734214	NM_001042492.3(NF1):c.3712G>A (p.Glu1238Lys)	NF1 (E1238K)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 367	NM_001042492.3(NF1):c.3784del (p.Ser1262fs)	NF1 (S1262fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 68341	NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln)	NF1 (R1276Q)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic
Select item 803354	NM_001042492.3(NF1):c.3831C>T (p.Gly1277=)	NF1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 237558	NM_001042492.3(NF1):c.3897del (p.Lys1299fs)	NF1 (K1299fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1 +2 more	GPathogenic
Select item 847279	NM_001042492.3(NF1):c.4042del (p.His1348fs)	NF1 (H1348fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 431632	NM_001042492.3(NF1):c.4076del (p.Pro1359fs)	NF1 (P1359fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 2444274	NM_001042492.3(NF1):c.4225dup (p.Met1409fs)	NF1 (M1388fs +1 more)	Duplication (frameshift variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 2572394	NM_001042492.3(NF1):c.4431-1G>C	NF1	Single nucleotide variant (splice acceptor variant)	Neurofibromatosis, type 1	GPathogenic
Select item 68351	NM_001042492.3(NF1):c.4465A>G (p.Ser1489Gly)	NF1 (S1468G +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +3 more	GPathogenic
Select item 2169591	NM_001042492.3(NF1):c.4489dup (p.Ser1497fs)	NF1 (S1476fs +1 more)	Duplication (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1452792	NM_001042492.3(NF1):c.4520del (p.Leu1507fs)	NF1 (L1486fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic/Likely pathogenic
Select item 404417	NM_001042492.3(NF1):c.4558C>T (p.Gln1520Ter)	NF1 (Q1520* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 1066896	NM_001042492.3(NF1):c.4786G>C (p.Ala1596Pro)	NF1 (A1575P +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GConflicting classifications of pathogenicity
Select item 230301	NM_001042492.3(NF1):c.4819dup (p.Tyr1607fs)	NF1 (Y1607fs +1 more)	Duplication (frameshift variant)	Neurofibromatosis, type 1 +1 more	GPathogenic
Select item 426127	NM_001042492.3(NF1):c.4977_4980del (p.Lys1661fs)	NF1 (K1661fs +1 more)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic
Select item 1360877	NM_001042492.3(NF1):c.4980dup (p.Lys1661Ter)	NF1 (K1661* +1 more)	Duplication (nonsense)	Neurofibromatosis, type 1 +5 more	GPathogenic/Likely pathogenic
Select item 1333529	NM_001042492.3(NF1):c.5167C>T (p.Gln1723Ter)	NF1 (Q1702* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 68355	NM_001042492.3(NF1):c.5353G>T (p.Ala1785Ser)	NF1 (A1764S +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 208853	NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys)	NF1 (R1809C +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +10 more	GPathogenic
Select item 1705580	NM_001042492.3(NF1):c.5513_5514del (p.Ser1838fs)	NF1 (S1817fs +1 more)	Microsatellite (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 658564	NM_001042492.3(NF1):c.5588G>A (p.Gly1863Asp)	NF1 (G1863D +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 185354	NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln)	NF1 (R1849Q +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GPathogenic
Select item 996435	NM_001042492.3(NF1):c.5619del (p.Tyr1874fs)	NF1 (Y1853fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis, type 1 +2 more	GPathogenic
Select item 237577	NM_001042492.3(NF1):c.5671C>T (p.Gln1891Ter)	NF1 (Q1870* +1 more)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1	GPathogenic
Select item 958318	NM_001042492.3(NF1):c.5740A>C (p.Thr1914Pro)	NF1 (T1893P +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 216865	NM_001042492.3(NF1):c.5907_5908del (p.Arg1970fs)	NF1	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 996493	NM_001042492.3(NF1):c.5933T>G (p.Leu1978Arg)	NF1 (L1957R +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GConflicting classifications of pathogenicity
Select item 547672	NM_001042492.3(NF1):c.6007-2A>G	NF1	Single nucleotide variant (splice acceptor variant)	Neurofibromatosis, type 1 +2 more	GPathogenic
Select item 1333425	NM_001042492.3(NF1):c.6355A>T (p.Arg2119Ter)	NF1 (R2098* +1 more)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1	GPathogenic/Likely pathogenic
Select item 861239	NM_001042492.3(NF1):c.6590_6591del (p.Phe2197fs)	NF1 (F2197fs +1 more)	Deletion (frameshift variant)	Cardiovascular phenotype +2 more	GPathogenic
Select item 230389	NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter)	NF1 (R2237* +1 more)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1 +3 more	GPathogenic
Select item 1329856	NM_001042492.3(NF1):c.6819+1G>T	NF1	Single nucleotide variant (splice donor variant)	Neurofibromatosis, type 1 +2 more	GPathogenic
Select item 457804	NM_001042492.3(NF1):c.6819+1G>A	NF1	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic
Select item 216866	NM_001042492.3(NF1):c.6852_6855del (p.Tyr2285fs)	NF1 (Y2285fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic
Select item 185082	NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter)	NF1 (Y2264* +1 more)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1 +7 more	GPathogenic
Select item 373973	NM_001042492.3(NF1):c.6904C>T (p.Gln2302Ter)	NF1 (Q2281* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 1320237	NM_001042492.3(NF1):c.7115del (p.Lys2372fs)	NF1 (K2351fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 1333586	NM_001042492.3(NF1):c.7169_7170insAACC (p.Val2391fs)	NF1 (V2370fs +1 more)	Insertion (frameshift variant)	Neurofibromatosis-Noonan syndrome	GLikely pathogenic
Select item 951449	NM_001042492.3(NF1):c.7189+1G>C	NF1	Single nucleotide variant (splice donor variant)	Neurofibromatosis, type 1	GPathogenic
Select item 661667	NM_001042492.3(NF1):c.7255_7256del (p.Leu2419fs)	NF1 (L2398fs +1 more)	Microsatellite (frameshift variant)	Juvenile myelomonocytic leukemia +4 more	GPathogenic
Select item 230467	NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter)	NF1 (R2496* +1 more)	Single nucleotide variant (nonsense)	Juvenile myelomonocytic leukemia +9 more	GPathogenic
Select item 1333256	NM_001042492.3(NF1):c.7787_7793del (p.Val2596fs)	NF1 (V2575fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 184261	NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter)	NF1 (R2616* +1 more)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1 +8 more	GPathogenic/Likely pathogenic

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Items: 80