ClinVar for MedGen (Select 138109) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024292	NM_002834.5(PTPN11):c.787T>A (p.Tyr263Asn)	PTPN11 (Y262N +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 1 +3 more	GLikely pathogenic
Select item 2680397	NM_005188.4(CBL):c.434C>G (p.Ser145Cys)	CBL (S145C)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 2677243	NM_001042492.3(NF1):c.7777_7778del (p.Leu2593fs)	NF1 (L2572fs +1 more)	Deletion (frameshift variant)	Juvenile myelomonocytic leukemia	GLikely pathogenic
Select item 2677242	NM_001042492.3(NF1):c.1120del (p.Asp374fs)	NF1 (D374fs)	Deletion (frameshift variant)	Juvenile myelomonocytic leukemia	GPathogenic
Select item 2677241	NM_001042492.3(NF1):c.1882_1884delinsAA (p.Tyr628fs)	NF1 (Y628fs)	Indel (frameshift variant)	Juvenile myelomonocytic leukemia	GLikely pathogenic
Select item 2677240	NM_001042492.3(NF1):c.1997_1998del (p.Ser666fs)	NF1 (S666fs)	Microsatellite (frameshift variant)	Juvenile myelomonocytic leukemia	GLikely pathogenic
Select item 2677239	NM_001042492.3(NF1):c.4903del (p.Tyr1635fs)	NF1 (Y1614fs +1 more)	Deletion (frameshift variant)	Juvenile myelomonocytic leukemia	GLikely pathogenic
Select item 2677238	NM_001042492.3(NF1):c.454_458del (p.Ala152fs)	NF1 (A152fs)	Deletion (frameshift variant)	Juvenile myelomonocytic leukemia	GLikely pathogenic
Select item 2677237	NM_001042492.3(NF1):c.8194del (p.Val2732fs)	NF1 (V2711fs +1 more)	Deletion (frameshift variant)	Juvenile myelomonocytic leukemia	GLikely pathogenic
Select item 2677236	NM_001042492.3(NF1):c.288+6T>A	NF1	Single nucleotide variant (intron variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 2677235	NM_001042492.3(NF1):c.2326-5T>G	NF1	Single nucleotide variant (intron variant)	Juvenile myelomonocytic leukemia +2 more	GConflicting classifications of pathogenicity
Select item 2677234	NM_001042492.3(NF1):c.6179_6183del (p.Lys2060fs)	NF1 (K2039fs +1 more)	Deletion (frameshift variant)	Juvenile myelomonocytic leukemia	GLikely pathogenic
Select item 2677233	NM_001042492.3(NF1):c.750dup (p.Asp251Ter)	NF1 (D251*)	Duplication (nonsense)	Juvenile myelomonocytic leukemia	GPathogenic
Select item 2677232	NM_001042492.3(NF1):c.5223del (p.His1741fs)	NF1 (H1720fs +1 more)	Deletion (frameshift variant)	Juvenile myelomonocytic leukemia	GLikely pathogenic
Select item 2677231	NM_001042492.3(NF1):c.1776del (p.Ser592fs)	NF1 (S592fs)	Deletion (frameshift variant)	Juvenile myelomonocytic leukemia	GLikely pathogenic
Select item 2677230	NM_001042492.3(NF1):c.5297del (p.Thr1765_Ser1766insTer)	NF1	Deletion (nonsense)	Juvenile myelomonocytic leukemia	GLikely pathogenic
Select item 2677229	NM_001042492.3(NF1):c.146del (p.Tyr49fs)	NF1 (Y49fs)	Deletion (frameshift variant)	Juvenile myelomonocytic leukemia	GLikely pathogenic
Select item 2677228	NM_001042492.3(NF1):c.6922-1G>A	NF1	Single nucleotide variant (splice acceptor variant)	Juvenile myelomonocytic leukemia	GPathogenic
Select item 2677227	NM_001042492.3(NF1):c.7926C>A (p.Tyr2642Ter)	NF1 (Y2621* +1 more)	Single nucleotide variant (nonsense)	Juvenile myelomonocytic leukemia	GLikely pathogenic
Select item 2677226	NM_001042492.3(NF1):c.2276_2291del (p.Val759fs)	NF1 (V759fs)	Deletion (frameshift variant)	Juvenile myelomonocytic leukemia	GLikely pathogenic
Select item 2677225	NM_001042492.3(NF1):c.8136G>A (p.Trp2712Ter)	NF1 (W2691* +1 more)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 2677224	NM_001042492.3(NF1):c.3686_3690del (p.Asn1229fs)	NF1 (N1229fs)	Deletion (frameshift variant)	Juvenile myelomonocytic leukemia	GLikely pathogenic
Select item 2677223	NM_001042492.3(NF1):c.5296del (p.Ser1766fs)	NF1 (S1745fs +1 more)	Deletion (frameshift variant)	Juvenile myelomonocytic leukemia	GLikely pathogenic
Select item 2677222	NM_001042492.3(NF1):c.7894_7895del (p.Thr2631_Asp2632insTer)	NF1	Deletion (nonsense)	Juvenile myelomonocytic leukemia	GLikely pathogenic
Select item 2677221	NM_001042492.3(NF1):c.319dup (p.Thr107fs)	NF1 (T107fs)	Duplication (frameshift variant)	Juvenile myelomonocytic leukemia	GLikely pathogenic
Select item 2677220	NM_001042492.3(NF1):c.5926G>C (p.Asp1976His)	NF1 (D1955H +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2677219	NM_001042492.3(NF1):c.1082del (p.Ser361fs)	NF1 (S361fs)	Deletion (frameshift variant)	Juvenile myelomonocytic leukemia	GLikely pathogenic
Select item 2677218	NM_001042492.3(NF1):c.2204A>C (p.Tyr735Ser)	NF1 (Y735S)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 2677216	NM_001042492.3(NF1):c.7387del (p.Thr2464fs)	NF1 (T2443fs +1 more)	Deletion (frameshift variant)	Juvenile myelomonocytic leukemia	GLikely pathogenic
Select item 2677215	NM_001042492.3(NF1):c.7387_7388dup (p.Thr2464fs)	NF1 (T2443fs +1 more)	Duplication (frameshift variant)	Juvenile myelomonocytic leukemia	GLikely pathogenic
Select item 2677214	NM_001042492.3(NF1):c.4018C>G (p.Leu1340Val)	NF1 (L1340V)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 2677213	NM_001042492.3(NF1):c.8421C>G (p.His2807Gln)	NF1 (H2786Q +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 2677212	NM_001042492.3(NF1):c.3878del (p.Gly1293fs)	NF1 (G1293fs)	Deletion (frameshift variant)	Juvenile myelomonocytic leukemia	GLikely pathogenic
Select item 2677210	NM_001042492.3(NF1):c.8438C>T (p.Thr2813Ile)	NF1 (T2792I +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 2677209	NM_001042492.3(NF1):c.2128_2142del (p.Phe710_Cys714del)	NF1	Deletion (inframe deletion)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 2677208	NM_001042492.3(NF1):c.7386_7387insA (p.Leu2463fs)	NF1 (L2442fs +1 more)	Insertion (frameshift variant)	Juvenile myelomonocytic leukemia	GLikely pathogenic
Select item 2677207	NM_001042492.3(NF1):c.2360CAA[1] (p.Thr788del)	NF1 (T788del)	Microsatellite (inframe deletion)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 2677206	NM_001042492.3(NF1):c.7391C>A (p.Thr2464Asn)	NF1 (T2443N +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 2677205	NM_001042492.3(NF1):c.888+652G>A	NF1	Single nucleotide variant (intron variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 2677204	NM_001042492.3(NF1):c.4169A>G (p.Lys1390Arg)	NF1 (K1390R)	Single nucleotide variant (missense variant +1 more)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 2677203	NM_001042492.3(NF1):c.46C>G (p.Arg16Gly)	LOC111811965, MIR4733HG +1 more (R16G)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2677202	NM_001042492.3(NF1):c.2576del (p.Gly859fs)	NF1 (G859fs)	Deletion (frameshift variant)	Juvenile myelomonocytic leukemia	GLikely pathogenic
Select item 2677201	NM_001042492.3(NF1):c.3302A>G (p.Gln1101Arg)	NF1 (Q1101R)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 2677200	NM_001042492.3(NF1):c.5812+489C>G	NF1	Single nucleotide variant (intron variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 2677199	NM_001042492.3(NF1):c.3835A>T (p.Ser1279Cys)	NF1 (S1279C)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 2677198	NM_001042492.3(NF1):c.5756A>T (p.Glu1919Val)	NF1 (E1898V +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 2677197	NM_001042492.3(NF1):c.5813-1042A>G	NF1	Single nucleotide variant (intron variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 2677195	NM_001042492.3(NF1):c.2666C>T (p.Thr889Ile)	NF1 (T889I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2677194	NM_001042492.3(NF1):c.2371A>C (p.Ile791Leu)	NF1 (I791L)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 2677193	NM_001042492.3(NF1):c.2186A>C (p.His729Pro)	NF1 (H729P)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 2677192	NM_001042492.3(NF1):c.1583G>A (p.Gly528Glu)	NF1 (G528E)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 2677191	NM_001042492.3(NF1):c.2896G>C (p.Ala966Pro)	NF1 (A966P)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 2677190	NM_001042492.3(NF1):c.2569A>G (p.Asn857Asp)	NF1 (N857D)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 2677189	NM_001042492.3(NF1):c.966dup (p.Ala323fs)	NF1 (A323fs)	Duplication (frameshift variant)	Juvenile myelomonocytic leukemia	GLikely pathogenic
Select item 2677188	NM_001042492.3(NF1):c.480-2746A>G	NF1	Single nucleotide variant (intron variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 2677187	NM_001042492.3(NF1):c.2431A>G (p.Thr811Ala)	NF1 (T811A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2677186	NM_001042492.3(NF1):c.2848C>G (p.Gln950Glu)	NF1 (Q950E)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 2677185	NM_001042492.3(NF1):c.2204A>G (p.Tyr735Cys)	NF1 (Y735C)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 2677184	NM_001042492.3(NF1):c.4405A>G (p.Lys1469Glu)	NF1 (K1448E +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 2677183	NM_001042492.3(NF1):c.452A>T (p.Asn151Ile)	NF1 (N151I)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 2677182	NM_001042492.3(NF1):c.4505G>A (p.Gly1502Asp)	NF1 (G1481D +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2677181	NM_001042492.3(NF1):c.6687G>C (p.Trp2229Cys)	NF1 (W2208C +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 2677180	NM_001042492.3(NF1):c.619G>T (p.Val207Phe)	NF1 (V207F)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 2677179	NM_001042492.3(NF1):c.2497T>C (p.Ser833Pro)	NF1 (S833P)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 2677178	NM_001042492.3(NF1):c.3157T>C (p.Ser1053Pro)	NF1 (S1053P)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 2677177	NM_001042492.3(NF1):c.3821T>C (p.Leu1274Pro)	NF1 (L1274P)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 2677176	NM_001042492.3(NF1):c.862_868dup (p.Asp290delinsGlyGlyTer)	NF1	Duplication (nonsense)	Juvenile myelomonocytic leukemia	GLikely pathogenic
Select item 2677175	NM_001042492.3(NF1):c.2663A>G (p.Asp888Gly)	NF1 (D888G)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 2677174	NM_001042492.3(NF1):c.3223_3225delinsAGG (p.Ala1075Arg)	NF1 (A1075R)	Indel (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 2677173	NM_001042492.3(NF1):c.7063A>C (p.Ser2355Arg)	NF1 (S2334R +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 2677172	NM_001042492.3(NF1):c.8475A>C (p.Arg2825Ser)	NF1 (R2804S +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 2677171	NM_001042492.3(NF1):c.4501G>T (p.Asp1501Tyr)	NF1 (D1480Y +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 2677170	NM_001042492.3(NF1):c.1722-13T>G	NF1	Single nucleotide variant (intron variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 2582415	NM_005188.4(CBL):c.2654T>C (p.Ile885Thr)	CBL (I885T)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +1 more	GUncertain significance
Select item 2503322	NM_001042492.3(NF1):c.7162T>G (p.Phe2388Val)	NF1 (F2367V +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +1 more	GUncertain significance
Select item 2452261	NM_001042492.3(NF1):c.3691G>A (p.Val1231Ile)	NF1 (V1231I)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +3 more	GUncertain significance
Select item 2452239	NM_001042492.3(NF1):c.4841A>G (p.Lys1614Arg)	NF1 (K1614R +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +2 more	GUncertain significance
Select item 2137972	NM_001042492.3(NF1):c.2850+1G>C	NF1	Single nucleotide variant (splice donor variant)	Juvenile myelomonocytic leukemia +1 more	GPathogenic/Likely pathogenic
Select item 2137971	NM_001042492.3(NF1):c.2682del (p.Phe894fs)	NF1 (F894fs)	Deletion (frameshift variant)	Juvenile myelomonocytic leukemia +1 more	GPathogenic/Likely pathogenic
Select item 2135315	NM_001042492.3(NF1):c.3682del (p.Ala1228fs)	NF1 (A1228fs)	Deletion (frameshift variant)	Juvenile myelomonocytic leukemia +1 more	GPathogenic/Likely pathogenic
Select item 2126158	NM_001042492.3(NF1):c.5164G>A (p.Glu1722Lys)	NF1 (E1722K +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +1 more	GUncertain significance
Select item 2104608	NM_001042492.3(NF1):c.5029del (p.Val1677fs)	NF1 (V1656fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 2013853	NM_001042492.3(NF1):c.4235G>T (p.Arg1412Ile)	NF1 (R1391I +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 2012117	NM_001042492.3(NF1):c.2325+1G>C	NF1	Single nucleotide variant (splice donor variant)	Neurofibromatosis, type 1 +1 more	GPathogenic/Likely pathogenic
Select item 1983108	NM_001042492.3(NF1):c.7646C>G (p.Ser2549Ter)	NF1 (S2549* +1 more)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1 +3 more	GPathogenic/Likely pathogenic
Select item 1806348	NM_001042492.3(NF1):c.8135G>A (p.Trp2712Ter)	NF1 (W2691* +1 more)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1 +1 more	GPathogenic
Select item 1755477	NM_001042492.3(NF1):c.6862C>T (p.Gln2288Ter)	NF1 (Q2267* +1 more)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1 +3 more	GPathogenic/Likely pathogenic
Select item 1754524	NM_001042492.3(NF1):c.6683A>G (p.Gln2228Arg)	NF1 (Q2207R +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +2 more	GUncertain significance
Select item 1749687	NM_001042492.3(NF1):c.5861C>A (p.Ser1954Ter)	NF1 (S1954* +1 more)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1 +3 more	GPathogenic/Likely pathogenic
Select item 1741925	NM_001042492.3(NF1):c.4681A>G (p.Ser1561Gly)	NF1 (S1561G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1737226	NM_001042492.3(NF1):c.4034A>G (p.Lys1345Arg)	NF1 (K1345R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1736421	NM_001042492.3(NF1):c.394G>A (p.Ala132Thr)	NF1 (A132T)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +3 more	GConflicting classifications of pathogenicity
Select item 1734990	NM_001042492.3(NF1):c.3797A>G (p.Glu1266Gly)	NF1 (E1266G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1721471	NM_001042492.3(NF1):c.3674T>C (p.Met1225Thr)	NF1 (M1225T)	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)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1685255	NM_005188.4(CBL):c.1439G>A (p.Arg480Gln)	CBL (R480Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1675105	NM_001042492.3(NF1):c.5503C>A (p.Gln1835Lys)	NF1 (Q1814K +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +4 more	GUncertain significance
Select item 1668777	NM_001042492.3(NF1):c.7062+12_7062+13del	NF1	Deletion (intron variant)	Neurofibromatosis, type 1 +4 more	GLikely benign
Select item 1658095	NM_001042492.3(NF1):c.5269-18G>A	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1 +4 more	GLikely benign
Select item 1649853	NM_001042492.3(NF1):c.4835+14T>C	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1 +4 more	GLikely benign

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