"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 547566	NM_001042492.3(NF1):c.269T>G (p.Leu90Arg)	NF1 (L90R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 642764	NM_001042492.3(NF1):c.288+5G>A	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 492874	NM_001042492.3(NF1):c.541C>T (p.Gln181Ter)	NF1 (Q181*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +5 more	GPathogenic
Select item 1712335	NM_001042492.3(NF1):c.764del (p.Gly255fs)	NF1 (G255fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 237610	NM_001042492.3(NF1):c.889-2A>G	NF1	Single nucleotide variant (splice acceptor variant)	Juvenile myelomonocytic leukemia +5 more	GConflicting classifications of pathogenicity
Select item 839743	NM_001042492.3(NF1):c.968C>A (p.Ala323Asp)	NF1 (A323D)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GPathogenic/Likely pathogenic
Select item 1342908	NM_001042492.3(NF1):c.1008_1009delinsAA (p.Trp336_Glu337delinsTer)	NF1	Indel (nonsense)	Neurofibromatosis-Noonan syndrome	GPathogenic
Select item 404597	NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter)	NF1 (R416*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +7 more	GPathogenic
Select item 2500301	NM_001042492.3(NF1):c.1260+6T>A	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 1329956	NM_001042492.3(NF1):c.1345_1346insGA (p.Lys449fs)	NF1 (K449fs)	Insertion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 237514	NM_001042492.3(NF1):c.1381C>T (p.Arg461Ter)	NF1 (R461*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
Select item 976085	NM_001042492.3(NF1):c.1413del (p.Lys471_Val472insTer)	NF1	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 354	NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys)	NF1 (Y489C)	Single nucleotide variant (missense variant)	Tibial pseudarthrosis +8 more	GPathogenic
Select item 1439663	NM_001042492.3(NF1):c.1601del (p.Pro534fs)	NF1 (P534fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1 +1 more	GPathogenic
Select item 485943	NM_001042492.3(NF1):c.1627C>T (p.Gln543Ter)	NF1 (Q543*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GPathogenic
Select item 561952	NM_001042492.3(NF1):c.1754T>G (p.Leu585Ter)	NF1 (L585*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 186215	NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs)	NF1	Deletion (frameshift variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 1325850	NM_001042492.3(NF1):c.1809_1810del (p.Leu604fs)	NF1 (L604fs)	Microsatellite (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 2500354	NM_001042492.3(NF1):c.2066del (p.Val689fs)	NF1 (V689fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 1712340	NM_001042492.3(NF1):c.2366del (p.Lys789fs)	NF1 (K789fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 280055	NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter)	NF1 (R816*)	Single nucleotide variant (nonsense)	Neurofibromatosis, familial spinal +13 more	GPathogenic
Select item 975864	NM_001042492.3(NF1):c.2823del (p.Ser942fs)	NF1 (S942fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic/Likely pathogenic
Select item 975857	NM_001042492.3(NF1):c.2948del (p.Leu983fs)	NF1 (L983fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 976156	NM_001042492.3(NF1):c.3113+1G>C	NF1	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 345	NM_001042492.3(NF1):c.3113+1G>A	NF1	Single nucleotide variant (splice donor variant)	not provided +5 more	GPathogenic
Select item 457626	NM_001042492.3(NF1):c.3144G>A (p.Trp1048Ter)	NF1 (W1048*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1	GPathogenic
Select item 1285423	NM_001042492.3(NF1):c.3351_3355del (p.Cys1117_Glu1119delinsTer)	NF1	Deletion (nonsense)	Neurofibromatosis, type 1	GPathogenic
Select item 1804127	NM_001042492.3(NF1):c.3394del (p.Arg1132fs)	NF1 (R1132fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 976302	NM_001042492.3(NF1):c.3448T>C (p.Ser1150Pro)	NF1 (S1150P)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GConflicting classifications of pathogenicity
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 187226	NM_001042492.3(NF1):c.3722G>A (p.Arg1241Gln)	NF1 (R1241Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1707518	NM_001042492.3(NF1):c.3772T>A (p.Trp1258Arg)	NF1 (W1258R)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 237556	NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter)	NF1 (R1276*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 220152	NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter)	NF1 (R1534* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +8 more	GPathogenic/Likely pathogenic
Select item 457709	NM_001042492.3(NF1):c.4672C>T (p.His1558Tyr)	NF1 (H1558Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 976344	NM_001042492.3(NF1):c.4738G>T (p.Glu1580Ter)	NF1 (E1559* +1 more)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1	GPathogenic/Likely pathogenic
Select item 561680	NM_001042492.3(NF1):c.5269-14C>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 449426	NM_001042492.3(NF1):c.5297C>G (p.Ser1766Ter)	NF1 (S1745* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 228381	NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter)	NF1 (R1748* +1 more)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1 +3 more	GPathogenic
Select item 1285535	NM_001042492.3(NF1):c.5409del (p.Ile1803fs)	NF1 (I1782fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis-Noonan syndrome	GPathogenic
Select item 134887	NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val)	NF1 (I2037V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 228382	NM_000267.3(NF1):c.6791dup (p.Tyr2264Ter)	NF1 (Y2264* +1 more)	Duplication	Neurofibromatosis, type 1 +4 more	GPathogenic
Select item 373973	NM_001042492.3(NF1):c.6904C>T (p.Gln2302Ter)	NF1 (Q2281* +1 more)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
Select item 2627606	NM_001042492.3(NF1):c.7151_7152insG (p.Ser2384_Asn2385insTer)	NF1	Insertion (frameshift variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 431686	NM_001042492.3(NF1):c.7189G>A (p.Gly2397Arg)	NF1 (G2376R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic

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Items: 45