ClinVar for MedGen (Select 138109) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 962

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3239943	NM_001042492.3(NF1):c.1221C>G (p.His407Gln)	NF1 (H407Q)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 3239942	NM_001042492.3(NF1):c.5325A>T (p.Gln1775His)	NF1 (Q1754H +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 3239941	NM_001042492.3(NF1):c.1356del (p.Gly453fs)	NF1 (G453fs)	Deletion (frameshift variant)	Juvenile myelomonocytic leukemia	GLikely pathogenic
Select item 3239940	NM_001042492.3(NF1):c.5657T>G (p.Leu1886Ter)	NF1 (L1865* +1 more)	Single nucleotide variant (nonsense)	Juvenile myelomonocytic leukemia	GPathogenic
Select item 3239939	NM_001042492.3(NF1):c.2218G>C (p.Glu740Gln)	NF1 (E740Q)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 3239938	NM_001042492.3(NF1):c.2457T>A (p.His819Gln)	NF1 (H819Q)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 3239937	NM_001042492.3(NF1):c.1255A>G (p.Thr419Ala)	NF1 (T419A)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 3239936	NM_001042492.3(NF1):c.5125A>T (p.Ile1709Leu)	NF1 (I1688L +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 3239935	NM_001042492.3(NF1):c.7024C>G (p.Leu2342Val)	NF1 (L2321V +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 3239934	NM_001042492.3(NF1):c.1562G>T (p.Ser521Ile)	NF1 (S521I)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 3239933	NM_001042492.3(NF1):c.7270A>G (p.Arg2424Gly)	NF1 (R2403G +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 3239932	NM_001042492.3(NF1):c.1396C>T (p.Leu466Phe)	NF1 (L466F)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 3239931	NM_001042492.3(NF1):c.3788AAG[1] (p.Glu1264del)	NF1 (E1264del)	Microsatellite (inframe_deletion)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 3239930	NM_001042492.3(NF1):c.718A>G (p.Thr240Ala)	NF1 (T240A)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 3239929	NM_001042492.3(NF1):c.6512dup (p.Ser2172fs)	NF1 (S2151fs +1 more)	Duplication (frameshift variant)	Juvenile myelomonocytic leukemia	GLikely pathogenic
Select item 3239928	NM_001042492.3(NF1):c.2707G>A (p.Val903Met)	NF1 (V903M)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 3239927	NM_001042492.3(NF1):c.730+7A>G	NF1	Single nucleotide variant (intron variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 3239926	NM_001042492.3(NF1):c.1156_1158delinsTT (p.Ile386fs)	NF1 (I386fs)	Indel (frameshift variant)	Juvenile myelomonocytic leukemia	GLikely pathogenic
Select item 3239925	NM_001042492.3(NF1):c.7458-2A>G	NF1	Single nucleotide variant (splice acceptor variant)	Juvenile myelomonocytic leukemia	GLikely pathogenic
Select item 3239924	NM_001042492.3(NF1):c.5234A>T (p.Lys1745Met)	NF1 (K1724M +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 3239923	NM_001042492.3(NF1):c.914A>G (p.Lys305Arg)	NF1 (K305R)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 3239922	NM_001042492.3(NF1):c.2057A>T (p.Lys686Ile)	NF1 (K686I)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 3239921	NM_001042492.3(NF1):c.4557G>T (p.Gly1519=)	NF1	Single nucleotide variant (synonymous variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 3239920	NM_001042492.3(NF1):c.8449T>G (p.Ser2817Ala)	NF1 (S2796A +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 3239919	NM_001042492.3(NF1):c.2100dup (p.Glu701Ter)	NF1 (E701*)	Duplication (nonsense)	Juvenile myelomonocytic leukemia	GLikely pathogenic
Select item 3239918	NM_001042492.3(NF1):c.1284G>T (p.Lys428Asn)	NF1 (K428N)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 3239917	NM_001042492.3(NF1):c.7555A>G (p.Arg2519Gly)	NF1 (R2498G +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 3239916	NM_001042492.3(NF1):c.6958G>T (p.Val2320Leu)	NF1 (V2299L +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia	GUncertain significance
Select item 3237957	NM_001042492.3(NF1):c.110A>C (p.Glu37Ala)	NF1 (E37A)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +2 more	GUncertain significance
Select item 3237923	NM_001042492.3(NF1):c.7232G>C (p.Arg2411Thr)	NF1 (R2390T +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +2 more	GUncertain significance
Select item 3237885	NM_001042492.3(NF1):c.650A>G (p.Glu217Gly)	NF1 (E217G)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +2 more	GUncertain significance
Select item 3237820	NM_001042492.3(NF1):c.5250C>G (p.Asp1750Glu)	NF1 (D1729E +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +2 more	GUncertain significance
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 2905440	NM_001042492.3(NF1):c.3484A>C (p.Met1162Leu)	NF1 (M1162L)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +1 more	GUncertain significance
Select item 2869592	NM_001042492.3(NF1):c.7954A>G (p.Lys2652Glu)	NF1 (K2652E +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +1 more	GUncertain significance
Select item 2813061	NM_001042492.3(NF1):c.4256T>C (p.Val1419Ala)	NF1 (V1398A +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +1 more	GUncertain significance
Select item 2783827	NM_001042492.3(NF1):c.5615C>T (p.Ala1872Val)	NF1 (A1851V +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +1 more	GUncertain significance
Select item 2780384	NM_001042492.3(NF1):c.1729del (p.Met577fs)	NF1 (M577fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1 +3 more	GPathogenic
Select item 2775456	NM_001042492.3(NF1):c.5524C>A (p.His1842Asn)	NF1 (H1821N +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +1 more	GUncertain significance
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

<< First< Prev

Page of 10