"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "NF1"[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 647845	NM_001042492.3(NF1):c.3G>A (p.Met1Ile)	LOC111811965, MIR4733HG +1 more (M1I)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic OUncertain significance
Select item 569660	NM_001042492.3(NF1):c.91_92del (p.His31fs)	NF1 (H31fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 449419	NM_001042492.3(NF1):c.204+1G>T	NF1	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +3 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 484139	NM_001042492.3(NF1):c.244_247del (p.Ser82_Gln83insTer)	NF1	Microsatellite (frameshift variant)	Juvenile myelomonocytic leukemia +4 more	GPathogenic/Likely pathogenic
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 40093	NM_001042492.3(NF1):c.574C>T (p.Arg192Ter)	NF1 (R192*)	Single nucleotide variant (nonsense)	Juvenile myelomonocytic leukemia +8 more	GPathogenic
Select item 2811909	NM_001042492.3(NF1):c.587-1G>C	NF1	Single nucleotide variant (splice acceptor variant)	Neurofibromatosis, type 1 +3 more	GPathogenic/Likely pathogenic
Select item 3381156	NM_001042492.3(NF1):c.722del (p.Asp241fs)	NF1 (D241fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 840945	NM_001042492.3(NF1):c.1024A>G (p.Ile342Val)	NF1 (I342V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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 3381157	NM_001042492.3(NF1):c.1374del (p.Ala459fs)	NF1 (A459fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1690366	NM_001042492.3(NF1):c.1438A>T (p.Lys480Ter)	NF1 (K480*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GPathogenic
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 547599	NM_001042492.3(NF1):c.1642-1G>A	NF1	Single nucleotide variant (splice acceptor variant)	Neurofibromatosis, type 1 +1 more	GPathogenic
Select item 374108	NM_001042492.3(NF1):c.1721+3A>G	NF1 (Y575C)	Single nucleotide variant (missense variant +1 more)	Cafe au lait spots, multiple +6 more	GPathogenic
Select item 3381158	NM_001042492.3(NF1):c.1845G>C (p.Lys615Asn)	NF1 (K615N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 428956	NM_001042492.3(NF1):c.1845G>T (p.Lys615Asn)	NF1 (K615N)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 141513	NM_001042492.3(NF1):c.2033dup (p.Ile679fs)	NF1 (I679fs)	Duplication (frameshift variant)	Juvenile myelomonocytic leukemia +5 more	GPathogenic
Select item 237533	NM_001042492.3(NF1):c.2257G>A (p.Ala753Thr)	NF1 (A753T)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1459413	NM_001042492.3(NF1):c.2268del (p.Arg758fs)	NF1 (R758fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 457583	NM_001042492.3(NF1):c.2409+5G>A	NF1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 280055	NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter)	NF1 (R816*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1 +13 more	GPathogenic
Select item 68321	NM_001042492.3(NF1):c.2530C>T (p.Leu844Phe)	NF1 (L844F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 68326	NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro)	NF1 (L898P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic/Likely pathogenic
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 860498	NM_001042492.3(NF1):c.2999G>C (p.Arg1000Pro)	NF1 (R1000P)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +3 more	GPathogenic/Likely pathogenic
Select item 586172	NM_001042492.3(NF1):c.3317A>G (p.Tyr1106Cys)	NF1 (Y1106C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 141747	NM_001042492.3(NF1):c.3604G>T (p.Ala1202Ser)	NF1 (A1202S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 361	NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter)	NF1 (R1241*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +4 more	GPathogenic OLikely oncogenic
Select item 420078	NM_001042492.3(NF1):c.3739_3742del (p.Phe1247fs)	NF1 (F1247fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic OLikely oncogenic
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 1447348	NM_001042492.3(NF1):c.3841G>A (p.Ala1281Thr)	NF1 (A1281T)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +3 more	GUncertain significance
Select item 863762	NM_001042492.3(NF1):c.3870+1G>C	NF1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 344	NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter)	NF1 (R1362*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1 +6 more	GPathogenic
Select item 457679	NM_001042492.3(NF1):c.4110+1G>A	NF1	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 523345	NM_001042492.3(NF1):c.4235G>C (p.Arg1412Thr)	NF1 (R1391T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 237563	NM_001042492.3(NF1):c.4369A>G (p.Lys1457Glu)	NF1 (K1436E +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 374	NM_001042492.3(NF1):c.4724+1G>C	NF1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1387584	NM_001042492.3(NF1):c.4760del (p.Ala1586_Leu1587insTer)	NF1	Deletion (nonsense)	Neurofibromatosis, type 1 +5 more	GPathogenic/Likely pathogenic
Select item 2682667	NM_001042492.3(NF1):c.4812_4814delinsA (p.Ile1605fs)	NF1 (I1584fs +1 more)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 2682671	NM_001042492.3(NF1):c.5253dup (p.Lys1752fs)	NF1 (K1731fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 547657	NM_001042492.3(NF1):c.5269-2A>G	NF1	Single nucleotide variant (splice acceptor variant)	Neurofibromatosis, type 1 +1 more	GPathogenic
Select item 228381	NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter)	NF1 (R1748* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 229848	NM_001042492.3(NF1):c.5423C>T (p.Thr1808Met)	NF1 (T1787M +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	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 142804	NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys)	NF1 (S1817C +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis-Noonan syndrome +7 more	GConflicting classifications of pathogenicity
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 431663	NM_001042492.3(NF1):c.5687C>G (p.Ser1896Ter)	NF1 (S1875* +1 more)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1 +3 more	GPathogenic
Select item 2683415	NM_001042492.3(NF1):c.6190T>A (p.Ser2064Thr)	NF1 (S2043T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 527572	NM_001042492.3(NF1):c.6299T>G (p.Leu2100Arg)	NF1 (L2079R +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +1 more	GUncertain significance
Select item 2682687	NM_001042492.3(NF1):c.6320_6345dup (p.Leu2116_Ser2117insLeuSerTer)	NF1	Duplication (nonsense +1 more)	not provided	GLikely pathogenic
Select item 3381160	NM_001042492.3(NF1):c.6507del (p.Val2170fs)	NF1 (V2149fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 404599	NM_001042492.3(NF1):c.6704+1G>A	NF1	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic
Select item 428972	NM_001042492.3(NF1):c.6715C>T (p.Gln2239Ter)	NF1 (Q2218* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 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 547687	NM_001042492.3(NF1):c.6921+1G>T	NF1	Single nucleotide variant (splice donor variant)	Juvenile myelomonocytic leukemia +2 more	GPathogenic/Likely pathogenic
Select item 2086993	NM_001042492.3(NF1):c.6995C>G (p.Ser2332Ter)	NF1 (S2332* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 492888	NM_001042492.3(NF1):c.7152dup (p.Asn2385Ter)	NF1 (N2385* +1 more)	Duplication (nonsense)	Cardiovascular phenotype +3 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 3380477	NM_001042492.3(NF1):c.7615+5G>C	NF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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Items: 61