"Mendelics"[submitter] AND "NF1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 428979	NM_001042492.3(NF1):c.61-2A>T	NF1	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 803335	NM_001042492.3(NF1):c.61-1G>T	NF1	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 803336	NM_001042492.3(NF1):c.64C>T (p.Pro22Ser)	NF1 (P22S)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GConflicting classifications of pathogenicity
Select item 237522	NM_001042492.3(NF1):c.169G>A (p.Gly57Ser)	NF1 (G57S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +9 more	GConflicting classifications of pathogenicity
Select item 1684949	NM_001042492.3(NF1):c.205-9_205-8del	NF1	Deletion (intron variant)	not specified	GUncertain significance
Select item 545744	NM_001042492.3(NF1):c.233del (p.Asn78fs)	NF1 (N78fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 655362	NM_001042492.3(NF1):c.236T>G (p.Leu79Ter)	NF1 (L79*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1	GPathogenic
Select item 803337	NM_001042492.3(NF1):c.269T>A (p.Leu90Gln)	NF1 (L90Q)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 803338	NM_001042492.3(NF1):c.333del (p.Lys111fs)	NF1 (K111fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1685971	NM_001042492.3(NF1):c.380_381insT (p.Asn128fs)	NF1 (N128fs)	Insertion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 584926	NM_001042492.3(NF1):c.484C>A (p.Gln162Lys)	NF1 (Q162K)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 41673	NM_001042492.3(NF1):c.528T>A (p.Asp176Glu)	NF1 (D176E)	Single nucleotide variant (missense variant)	Neurofibromatosis-Noonan syndrome +6 more	GConflicting classifications of pathogenicity
Select item 803339	NM_000267.3(NF1):c.730+32dup	NF1	Duplication	not provided +1 more	GBenign
Select item 1684950	NM_001042492.3(NF1):c.814_819del (p.Ile272_Leu273del)	NF1	Deletion (inframe_deletion)	not specified	GUncertain significance
Select item 637000	NM_001042492.3(NF1):c.844C>T (p.Gln282Ter)	NF1 (Q282*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 803340	NM_001042492.3(NF1):c.888+1G>T	NF1	Single nucleotide variant (splice donor variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1685972	NM_001042492.3(NF1):c.889-2A>T	NF1	Single nucleotide variant (splice acceptor variant)	Neurofibromatosis, type 1	GPathogenic
Select item 457520	NM_001042492.3(NF1):c.1185+7G>C	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GConflicting classifications of pathogenicity
Select item 803341	NM_001042492.3(NF1):c.1186-1G>A	NF1	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 803342	NM_001042492.3(NF1):c.1188_1189del (p.Ile396fs)	NF1 (I396fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 186192	NM_001042492.3(NF1):c.1370A>T (p.His457Leu)	NF1 (H457L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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 480181	NM_001042492.3(NF1):c.1528-1G>T	NF1	Single nucleotide variant (splice acceptor variant)	Neurofibromatosis, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 966994	NM_001042492.3(NF1):c.1663_1666del (p.Leu555fs)	NF1 (L555fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 803343	NM_001042492.3(NF1):c.1854del (p.Asp618fs)	NF1 (D618fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1685973	NM_001042492.3(NF1):c.1888dup (p.Val630fs)	NF1 (V630fs)	Duplication (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 184452	NM_001042492.3(NF1):c.1891G>A (p.Gly631Arg)	NF1 (G631R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 134880	NM_001042492.3(NF1):c.1933A>G (p.Met645Val)	NF1 (M645V)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign/Likely benign
Select item 1005455	NM_001042492.3(NF1):c.1940A>C (p.His647Pro)	NF1 (H647P)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +2 more	GUncertain significance
Select item 803344	NM_001042492.3(NF1):c.1950del (p.Leu650fs)	NF1 (L650fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 803345	NM_001042492.3(NF1):c.1989del (p.Asn664fs)	NF1 (N664fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 134881	NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe)	NF1 (S665F)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 186638	NM_001042492.3(NF1):c.2032C>A (p.Pro678Thr)	NF1 (P678T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 41669	NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu)	NF1 (P678L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 803346	NM_001042492.3(NF1):c.2244dup (p.Ser749fs)	NF1 (S749fs)	Duplication (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 185917	NM_001042492.3(NF1):c.2248A>G (p.Thr750Ala)	NF1 (T750A)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 584927	NM_001042492.3(NF1):c.2251G>C (p.Gly751Arg)	NF1 (G751R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 578345	NM_001042492.3(NF1):c.2449dup (p.Met817fs)	NF1 (M817fs)	Duplication (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 457588	NM_001042492.3(NF1):c.2537C>A (p.Ala846Asp)	NF1 (A846D)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +1 more	GPathogenic
Select item 584928	NM_001042492.3(NF1):c.2545_2546dup (p.Val850fs)	NF1 (V850fs)	Duplication (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 68325	NM_001042492.3(NF1):c.2617C>T (p.Arg873Cys)	NF1 (R873C)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 457595	NM_001042492.3(NF1):c.2659G>A (p.Ala887Thr)	NF1 (A887T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 803347	NM_001042492.3(NF1):c.2850+17T>C	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GLikely benign
Select item 1685974	NM_001042492.3(NF1):c.2851-2A>T	NF1	Single nucleotide variant (splice acceptor variant)	Neurofibromatosis, type 1	GPathogenic
Select item 230931	NM_001042492.3(NF1):c.2896G>A (p.Ala966Thr)	NF1 (A966T)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +1 more	GUncertain significance
Select item 584929	NM_001042492.3(NF1):c.2897C>G (p.Ala966Gly)	NF1 (A966G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 663702	NM_001042492.3(NF1):c.3047_3048del (p.Cys1016fs)	NF1 (C1016fs)	Microsatellite (frameshift variant)	NF1-related condition +3 more	GPathogenic
Select item 803348	NM_001042492.3(NF1):c.3112A>T (p.Arg1038Trp)	NF1 (R1038W)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 1685975	NM_001042492.3(NF1):c.3152del (p.Gly1051fs)	NF1 (G1051fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 803349	NM_001042492.3(NF1):c.3198-4dup	NF1	Duplication (intron variant)	not provided +1 more	GBenign
Select item 803350	NM_001042492.3(NF1):c.3198-6_3198-1del	NF1	Deletion (splice acceptor variant)	Neurofibromatosis, type 1	GLikely benign
Select item 803351	NM_001042492.3(NF1):c.3199G>T (p.Asp1067Tyr)	NF1 (D1067Y)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GLikely benign
Select item 803352	NM_001042492.3(NF1):c.3204G>T (p.Leu1068Phe)	NF1 (L1068F)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GLikely benign
Select item 952266	NM_001042492.3(NF1):c.3299C>A (p.Ser1100Ter)	NF1 (S1100*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1	GPathogenic
Select item 1685976	NM_001042492.3(NF1):c.3323del (p.Thr1108fs)	NF1 (T1108fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 803353	NM_001042492.3(NF1):c.3381_3382del (p.Gly1128fs)	NF1 (G1128fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 141451	NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile)	NF1 (V1146I)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 404612	NM_001042492.3(NF1):c.3461A>T (p.Asn1154Ile)	NF1 (N1154I)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 184364	NM_001042492.3(NF1):c.3468C>T (p.Asn1156=)	NF1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +7 more	GBenign/Likely benign
Select item 584930	NM_001042492.3(NF1):c.3625G>C (p.Val1209Leu)	NF1 (V1209L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 803354	NM_001042492.3(NF1):c.3831C>T (p.Gly1277=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 803355	NM_001042492.3(NF1):c.3974+23A>T	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GBenign
Select item 561676	NM_001042492.3(NF1):c.3989A>C (p.Glu1330Ala)	NF1 (E1330A)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +3 more	GUncertain significance
Select item 141586	NM_001042492.3(NF1):c.4009C>T (p.Arg1337Trp)	NF1 (R1337W)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +1 more	GUncertain significance
Select item 844453	NM_001042492.3(NF1):c.4076dup (p.Gln1360fs)	NF1 (Q1360fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 1071205	NM_001042492.3(NF1):c.4107C>A (p.Tyr1369Ter)	NF1 (Y1369*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1	GPathogenic
Select item 221137	NM_001042492.3(NF1):c.4174-8_4174-6del	NF1	Deletion (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 457686	NM_001042492.3(NF1):c.4234A>G (p.Arg1412Gly)	NF1 (R1391G +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +1 more	GPathogenic
Select item 404437	NM_001042492.3(NF1):c.4262C>T (p.Pro1421Leu)	NF1 (P1400L +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 803356	NM_001042492.3(NF1):c.4285A>T (p.Lys1429Ter)	NF1 (K1408* +1 more)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1	GPathogenic/Likely pathogenic
Select item 527535	NM_001042492.3(NF1):c.4328C>T (p.Ser1443Leu)	NF1 (S1422L +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 803357	NM_001042492.3(NF1):c.4344_4345insCCT (p.Ser1448_Ile1449insPro)	NF1	Insertion (inframe_insertion)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 803358	NM_001042492.3(NF1):c.4381dup (p.Met1461fs)	NF1 (M1440fs +1 more)	Duplication (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 803359	NM_001042492.3(NF1):c.4431-1G>T	NF1	Single nucleotide variant (splice acceptor variant)	Neurofibromatosis, type 1	GPathogenic
Select item 803360	NM_001042492.3(NF1):c.4463del (p.Thr1488fs)	NF1 (T1488fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 803361	NM_001042492.3(NF1):c.4577+2T>C	NF1	Single nucleotide variant (splice donor variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 803362	NM_001042492.3(NF1):c.4578-12dup	NF1	Duplication (intron variant)	Neurofibromatosis, type 1	GBenign
Select item 584931	NM_001042492.3(NF1):c.4655A>G (p.Lys1552Arg)	NF1 (K1531R +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +2 more	GUncertain significance
Select item 216404	NM_001042492.3(NF1):c.4682G>A (p.Ser1561Asn)	NF1 (S1540N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 934165	NM_001042492.3(NF1):c.4769T>A (p.Leu1590Ter)	NF1 (L1590* +1 more)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1	GPathogenic
Select item 68354	NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val)	NF1 (I1584V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 237571	NM_001042492.3(NF1):c.4834A>C (p.Arg1612=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 235483	NM_006495.4(EVI2B):c.1019C>G (p.Pro340Arg)	EVI2B, NF1 (P340R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1684951	NM_006495.4(EVI2B):c.593del (p.Asn198fs)	EVI2B, NF1 (N198fs)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 803363	NM_014210.4(EVI2A):c.386ACA[3] (p.Asn132del)	EVI2A, NF1 (N132del +1 more)	Microsatellite (inframe_deletion +1 more)	Neurofibromatosis, type 1	GLikely benign
Select item 233847	NM_001042492.3(NF1):c.4943C>T (p.Thr1648Ile)	NF1 (T1627I +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +5 more	GConflicting classifications of pathogenicity
Select item 803364	NM_001042492.3(NF1):c.5045_5046del (p.Asn1681_Cys1682insTer)	NF1	Deletion (nonsense)	Neurofibromatosis, type 1 +7 more	GPathogenic/Likely pathogenic
Select item 803365	NM_001042492.3(NF1):c.5046dup (p.Asn1683Ter)	NF1 (N1662* +1 more)	Duplication (nonsense)	Neurofibromatosis, type 1	GPathogenic
Select item 803366	NM_001042492.3(NF1):c.5079del (p.His1693fs)	NF1 (H1672fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 231040	NM_001042492.3(NF1):c.5160G>T (p.Glu1720Asp)	NF1 (E1699D +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 184131	NM_001042492.3(NF1):c.5235G>A (p.Lys1745=)	NF1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +7 more	GBenign/Likely benign
Select item 1684952	NM_001042492.3(NF1):c.5254A>G (p.Lys1752Glu)	NF1 (K1731E +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 584932	NM_001042492.3(NF1):c.5269-2A>T	NF1	Single nucleotide variant (splice acceptor variant)	Neurofibromatosis, type 1	GPathogenic
Select item 803367	NM_001042492.3(NF1):c.5379_5380dup (p.Val1794fs)	NF1 (V1794fs +1 more)	Duplication (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 229848	NM_001042492.3(NF1):c.5423C>T (p.Thr1808Met)	NF1 (T1787M +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +3 more	GUncertain significance
Select item 457753	NM_001042492.3(NF1):c.5470A>G (p.Ile1824Val)	NF1 (I1803V +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +4 more	GUncertain significance
Select item 404482	NM_001042492.3(NF1):c.5489G>A (p.Arg1830His)	NF1 (R1830H +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 647087	NM_001042492.3(NF1):c.5501C>G (p.Ser1834Ter)	NF1 (S1834* +1 more)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1	GPathogenic
Select item 1048749	NM_001042492.3(NF1):c.5609+1G>T	NF1	Single nucleotide variant (splice donor variant)	Neurofibromatosis, type 1	GPathogenic
Select item 803368	NM_001042492.3(NF1):c.5711A>C (p.Asn1904Thr)	NF1 (N1883T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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