C0027831[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 480205	NM_001042492.3(NF1):c.4_5delinsTT (p.Ala2Phe)	LOC111811965, MIR4733HG +1 more (A2F)	Indel (missense variant)	Juvenile myelomonocytic leukemia +4 more	GUncertain significance
Select item 404581	NM_001042492.3(NF1):c.79C>T (p.Gln27Ter)	NF1 (Q27*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 457881	NM_001042492.3(NF1):c.98A>G (p.Lys33Arg)	NF1 (K33R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1713619	NM_001042492.3(NF1):c.119A>G (p.Lys40Arg)	NF1 (K40R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 232106	NM_001042492.3(NF1):c.200A>G (p.Asn67Ser)	NF1 (N67S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
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 68328	NM_001042492.3(NF1):c.278G>A (p.Cys93Tyr)	NF1 (C93Y)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +2 more	GPathogenic/Likely pathogenic
Select item 1460161	NM_001042492.3(NF1):c.289-2A>G	NF1	Single nucleotide variant (splice acceptor variant)	Neurofibromatosis, type 1 +1 more	GPathogenic
Select item 561690	NM_001042492.3(NF1):c.320C>T (p.Thr107Met)	NF1 (T107M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 231872	NM_001042492.3(NF1):c.373C>T (p.Arg125Cys)	NF1 (R125C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 480081	NM_001042492.3(NF1):c.374G>A (p.Arg125His)	NF1 (R125H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 185081	NM_001042492.3(NF1):c.378A>C (p.Glu126Asp)	NF1 (E126D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 457673	NM_001042492.3(NF1):c.389A>G (p.His130Arg)	NF1 (H130R)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 1736421	NM_001042492.3(NF1):c.394G>A (p.Ala132Thr)	NF1 (A132T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 824600	NM_001042492.3(NF1):c.410C>G (p.Ser137Cys)	NF1 (S137C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 574327	NM_001042492.3(NF1):c.449del (p.Phe150fs)	NF1 (F150fs)	Deletion (frameshift variant)	Juvenile myelomonocytic leukemia +1 more	GPathogenic/Likely pathogenic
Select item 404534	NM_001042492.3(NF1):c.451A>C (p.Asn151His)	NF1 (N151H)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 481959	NM_001042492.3(NF1):c.469A>G (p.Ile157Val)	NF1 (I157V)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +4 more	GUncertain significance
Select item 565507	NM_001042492.3(NF1):c.479+5G>A	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1 +2 more	GPathogenic
Select item 642860	NM_001042492.3(NF1):c.520G>A (p.Val174Ile)	NF1 (V174I)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 481930	NM_001042492.3(NF1):c.520G>T (p.Val174Phe)	NF1 (V174F)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +6 more	GUncertain significance
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 40093	NM_001042492.3(NF1):c.574C>T (p.Arg192Ter)	NF1 (R192*)	Single nucleotide variant (nonsense)	Juvenile myelomonocytic leukemia +8 more	GPathogenic
Select item 480207	NM_001042492.3(NF1):c.614A>G (p.Lys205Arg)	NF1 (K205R)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +4 more	GUncertain significance
Select item 230640	NM_001042492.3(NF1):c.623C>T (p.Ala208Val)	NF1 (A208V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 485973	NM_001042492.3(NF1):c.632C>T (p.Ala211Val)	NF1 (A211V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	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 851567	NM_001042492.3(NF1):c.688G>T (p.Glu230Ter)	NF1 (E230*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 952081	NM_001042492.3(NF1):c.702_708del (p.Tyr235fs)	NF1 (Y235fs)	Deletion (frameshift variant)	Juvenile myelomonocytic leukemia +1 more	GPathogenic/Likely pathogenic
Select item 1073116	NM_001042492.3(NF1):c.731-1G>C	NF1	Single nucleotide variant (splice acceptor variant)	Juvenile myelomonocytic leukemia +2 more	GPathogenic
Select item 237609	NM_001042492.3(NF1):c.848A>G (p.Asp283Gly)	NF1 (D283G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 231063	NM_001042492.3(NF1):c.862G>A (p.Val288Met)	NF1 (V288M)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 816725	NM_001042492.3(NF1):c.889-21C>A	NF1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 237610	NM_001042492.3(NF1):c.889-2A>G	NF1	Single nucleotide variant (splice acceptor variant)	not specified +5 more	GPathogenic
Select item 185696	NM_001042492.3(NF1):c.889A>C (p.Lys297Gln)	NF1 (K297Q)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +2 more	GUncertain significance
Select item 853674	NM_001042492.3(NF1):c.901G>A (p.Asp301Asn)	NF1 (D301N)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 186172	NM_001042492.3(NF1):c.905G>A (p.Ser302Asn)	NF1 (S302N)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +4 more	GConflicting classifications of pathogenicity
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 652291	NM_001042492.3(NF1):c.911G>A (p.Arg304Gln)	NF1 (R304Q)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 234079	NM_001042492.3(NF1):c.923C>G (p.Ala308Gly)	NF1 (A308G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 823142	NM_001042492.3(NF1):c.928C>T (p.His310Tyr)	NF1 (H310Y)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +3 more	GUncertain significance
Select item 863185	NM_001042492.3(NF1):c.952_953del (p.Glu318fs)	NF1 (E318fs)	Deletion (frameshift variant)	Cardiovascular phenotype +4 more	GPathogenic
Select item 457877	NM_001042492.3(NF1):c.952del (p.Glu318fs)	NF1 (E318fs)	Deletion (frameshift variant)	Juvenile myelomonocytic leukemia +3 more	GPathogenic
Select item 404522	NM_001042492.3(NF1):c.964A>G (p.Ile322Val)	NF1 (I322V)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +4 more	GConflicting classifications of pathogenicity
Select item 480101	NM_001042492.3(NF1):c.965T>C (p.Ile322Thr)	NF1 (I322T)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +4 more	GUncertain significance
Select item 1384105	NM_001042492.3(NF1):c.967G>A (p.Ala323Thr)	NF1 (A323T)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +1 more	GUncertain significance
Select item 457880	NM_001042492.3(NF1):c.983_984del (p.Leu327_Cys328insTer)	NF1	Microsatellite (nonsense)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 1519175	NM_001042492.3(NF1):c.1002C>G (p.Ile334Met)	NF1 (I334M)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +4 more	GUncertain significance
Select item 545745	NM_001042492.3(NF1):c.1020dup (p.Val341fs)	NF1 (V341fs)	Duplication (frameshift variant)	not provided +5 more	GPathogenic
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 381606	NM_001042492.3(NF1):c.1062+3A>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1 +4 more	GPathogenic/Likely pathogenic
Select item 1514542	NM_001042492.3(NF1):c.1100G>A (p.Gly367Asp)	NF1 (G367D)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +1 more	GUncertain significance
Select item 237510	NM_001042492.3(NF1):c.1130T>C (p.Ile377Thr)	NF1 (I377T)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +3 more	GUncertain significance
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 457523	NM_001042492.3(NF1):c.1186A>C (p.Ile396Leu)	NF1 (I396L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 640138	NM_001042492.3(NF1):c.1219C>T (p.His407Tyr)	NF1 (H407Y)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 457524	NM_001042492.3(NF1):c.1247G>A (p.Arg416Gln)	NF1 (R416Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 457526	NM_001042492.3(NF1):c.1259A>G (p.Asn420Ser)	NF1 (N420S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1398490	NM_001042492.3(NF1):c.1264G>T (p.Ala422Ser)	NF1 (A422S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 404462	NM_001042492.3(NF1):c.1310T>C (p.Val437Ala)	NF1 (V437A)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 230574	NM_001042492.3(NF1):c.1310T>A (p.Val437Asp)	NF1 (V437D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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 571423	NM_001042492.3(NF1):c.1319G>A (p.Arg440Gln)	NF1 (R440Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 953156	NM_001042492.3(NF1):c.1337C>T (p.Thr446Ile)	NF1 (T446I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 863715	NM_001042492.3(NF1):c.1355A>T (p.Gln452Leu)	NF1 (Q452L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1053512	NM_001042492.3(NF1):c.1361G>A (p.Cys454Tyr)	NF1 (C454Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 186192	NM_001042492.3(NF1):c.1370A>T (p.His457Leu)	NF1 (H457L)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +4 more	GUncertain significance
Select item 480087	NM_001042492.3(NF1):c.1371C>A (p.His457Gln)	NF1 (H457Q)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +4 more	GUncertain significance
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 481888	NM_001042492.3(NF1):c.1392+5G>A	NF1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 142958	NM_001042492.3(NF1):c.1392+5_1392+6delinsTT	NF1	Indel (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 527561	NM_001042492.3(NF1):c.1405A>G (p.Lys469Glu)	NF1 (K469E)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GConflicting classifications of pathogenicity
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 819456	NM_001042492.3(NF1):c.1526G>A (p.Cys509Tyr)	NF1 (C509Y)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +3 more	GUncertain significance
Select item 1397062	NM_001042492.3(NF1):c.1541A>G (p.Gln514Arg)	NF1 (Q514R)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +4 more	GUncertain significance
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 856397	NM_001042492.3(NF1):c.1555del (p.Gln519fs)	NF1 (Q519fs)	Deletion (frameshift variant)	Juvenile myelomonocytic leukemia +1 more	GPathogenic
Select item 858595	NM_001042492.3(NF1):c.1564dup (p.Thr522fs)	NF1 (T522fs)	Duplication (frameshift variant)	Neurofibromatosis, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 237521	NM_001042492.3(NF1):c.1595T>G (p.Leu532Arg)	NF1 (L532R)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +3 more	GPathogenic/Likely pathogenic
Select item 457538	NM_001042492.3(NF1):c.1600C>T (p.Pro534Ser)	NF1 (P534S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 839398	NM_001042492.3(NF1):c.1607C>T (p.Ser536Leu)	NF1 (S536L)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +1 more	GUncertain significance
Select item 1720929	NM_001042492.3(NF1):c.1633G>T (p.Ala545Ser)	NF1 (A545S)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +3 more	GUncertain significance
Select item 841928	NM_001042492.3(NF1):c.1636A>G (p.Met546Val)	NF1 (M546V)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 216395	NM_001042492.3(NF1):c.1661A>G (p.Gln554Arg)	NF1 (Q554R)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +4 more	GUncertain significance
Select item 231024	NM_001042492.3(NF1):c.1662G>T (p.Gln554His)	NF1 (Q554H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1500965	NM_001042492.3(NF1):c.1675G>A (p.Asp559Asn)	NF1 (D559N)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +3 more	GUncertain significance
Select item 966412	NM_001042492.3(NF1):c.1687C>T (p.Pro563Ser)	NF1 (P563S)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +1 more	GUncertain significance
Select item 457543	NM_001042492.3(NF1):c.1699G>A (p.Val567Ile)	NF1 (V567I)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +1 more	GUncertain significance
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 2780384	NM_001042492.3(NF1):c.1729del (p.Met577fs)	NF1 (M577fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1 +3 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 404553	NM_001042492.3(NF1):c.1771C>G (p.Leu591Val)	NF1 (L591V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 404478	NM_001042492.3(NF1):c.1802G>A (p.Arg601Gln)	NF1 (R601Q)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 579615	NM_001042492.3(NF1):c.1845+1G>A	NF1	Single nucleotide variant (splice donor variant)	not provided +4 more	GPathogenic
Select item 547603	NM_001042492.3(NF1):c.1846C>T (p.Gln616Ter)	NF1 (Q616*)	Single nucleotide variant (nonsense)	Juvenile myelomonocytic leukemia +1 more	GPathogenic/Likely pathogenic
Select item 431599	NM_001042492.3(NF1):c.1866T>A (p.Cys622Ter)	NF1 (C622*)	Single nucleotide variant (nonsense)	Juvenile myelomonocytic leukemia +3 more	GPathogenic
Select item 662272	NM_001042492.3(NF1):c.1871T>C (p.Phe624Ser)	NF1 (F624S)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +3 more	GUncertain significance
Select item 820244	NM_001042492.3(NF1):c.1876del (p.Leu626fs)	NF1 (L626fs)	Deletion (frameshift variant)	Juvenile myelomonocytic leukemia +3 more	GPathogenic/Likely pathogenic
Select item 233228	NM_001042492.3(NF1):c.1892G>A (p.Gly631Glu)	NF1 (G631E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 134883	NM_001042492.3(NF1):c.1894T>A (p.Cys632Ser)	NF1 (C632S)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity

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