ClinVar for MedGen (Select 138109) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3581843	NM_001042492.3(NF1):c.7974_7977delinsAAA (p.His2658fs)	NF1 (H2658fs +1 more)	Indel (frameshift variant)	Juvenile myelomonocytic leukemia +4 more	GLikely pathogenic
Select item 3581841	NM_001042492.3(NF1):c.7345G>A (p.Val2449Ile)	NF1 (V2428I +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +4 more	GUncertain significance
Select item 3581839	NM_001042492.3(NF1):c.6922-19A>G	NF1	Single nucleotide variant (intron variant)	Juvenile myelomonocytic leukemia +4 more	GUncertain significance
Select item 3581837	NM_001042492.3(NF1):c.6517dup (p.Ala2173fs)	NF1 (A2173fs +1 more)	Duplication (frameshift variant)	Juvenile myelomonocytic leukemia +4 more	GLikely pathogenic
Select item 3581836	NM_001042492.3(NF1):c.6414G>A (p.Gln2138=)	NF1	Single nucleotide variant (synonymous variant)	Juvenile myelomonocytic leukemia +4 more	GUncertain significance
Select item 3581835	NM_001042492.3(NF1):c.6147+3A>C	NF1	Single nucleotide variant (intron variant)	Juvenile myelomonocytic leukemia +4 more	GUncertain significance
Select item 3581834	NM_001042492.3(NF1):c.5404A>C (p.Thr1802Pro)	NF1 (T1781P +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +4 more	GUncertain significance
Select item 3581833	NM_001042492.3(NF1):c.5286_5295del (p.Val1764fs)	NF1 (V1764fs +1 more)	Deletion (frameshift variant)	Juvenile myelomonocytic leukemia +4 more	GLikely pathogenic
Select item 3581831	NM_001042492.3(NF1):c.4585A>T (p.Lys1529Ter)	NF1 (K1508* +1 more)	Single nucleotide variant (nonsense)	Juvenile myelomonocytic leukemia +4 more	GLikely pathogenic
Select item 3581829	NM_001042492.3(NF1):c.4249G>C (p.Ala1417Pro)	NF1 (A1417P +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +4 more	GUncertain significance
Select item 3581828	NM_001042492.3(NF1):c.4173+12G>C	NF1	Single nucleotide variant (intron variant)	Juvenile myelomonocytic leukemia +4 more	GUncertain significance
Select item 3581826	NM_001042492.3(NF1):c.3766C>A (p.Leu1256Met)	NF1 (L1256M)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +4 more	GUncertain significance
Select item 3581824	NM_001042492.3(NF1):c.2750T>A (p.Val917Asp)	NF1 (V917D)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +4 more	GLikely pathogenic
Select item 3581823	NM_001042492.3(NF1):c.2441A>G (p.Lys814Arg)	NF1 (K814R)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +4 more	GUncertain significance
Select item 3581818	NM_001042492.3(NF1):c.833C>T (p.Pro278Leu)	NF1 (P278L)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +4 more	GUncertain significance
Select item 3581817	NM_001042492.3(NF1):c.749T>A (p.Phe250Tyr)	NF1 (F250Y)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +4 more	GUncertain significance
Select item 3581816	NM_001042492.3(NF1):c.655-16G>A	NF1	Single nucleotide variant (intron variant)	Juvenile myelomonocytic leukemia +4 more	GUncertain significance
Select item 3581814	NM_001042492.3(NF1):c.532G>A (p.Glu178Lys)	NF1 (E178K)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +4 more	GUncertain significance
Select item 3581813	NM_001042492.3(NF1):c.136A>G (p.Ile46Val)	NF1 (I46V)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +4 more	GUncertain significance
Select item 3574269	NM_002834.5(PTPN11):c.1070C>T (p.Thr357Met)	PTPN11 (T356M +1 more)	Single nucleotide variant (missense variant)	LEOPARD syndrome 1 +3 more	GUncertain significance
Select item 3574268	NM_002834.5(PTPN11):c.881A>G (p.Asp294Gly)	PTPN11 (D293G +1 more)	Single nucleotide variant (missense variant)	LEOPARD syndrome 1 +3 more	GUncertain significance
Select item 3574267	NM_002834.5(PTPN11):c.709G>A (p.Ala237Thr)	PTPN11 (A237T +1 more)	Single nucleotide variant (missense variant)	LEOPARD syndrome 1 +3 more	GUncertain significance
Select item 3574264	NM_002834.5(PTPN11):c.643-20C>A	PTPN11	Single nucleotide variant (intron variant)	LEOPARD syndrome 1 +3 more	GUncertain significance
Select item 3574263	NM_002834.5(PTPN11):c.585A>C (p.Glu195Asp)	PTPN11 (E195D +1 more)	Single nucleotide variant (missense variant)	LEOPARD syndrome 1 +3 more	GUncertain significance
Select item 3574262	NM_002834.5(PTPN11):c.570G>T (p.Leu190Phe)	PTPN11 (L189F +1 more)	Single nucleotide variant (missense variant)	LEOPARD syndrome 1 +3 more	GUncertain significance
Select item 3574261	NM_002834.5(PTPN11):c.529C>G (p.Leu177Val)	PTPN11 (L177V +1 more)	Single nucleotide variant (missense variant)	LEOPARD syndrome 1 +3 more	GUncertain significance
Select item 3574260	NM_002834.5(PTPN11):c.513G>C (p.Met171Ile)	PTPN11 (M170I +1 more)	Single nucleotide variant (missense variant)	LEOPARD syndrome 1 +3 more	GUncertain significance
Select item 3574259	NM_002834.5(PTPN11):c.503C>T (p.Thr168Ile)	PTPN11 (T168I +1 more)	Single nucleotide variant (missense variant)	LEOPARD syndrome 1 +3 more	GUncertain significance
Select item 3574258	NM_002834.5(PTPN11):c.467A>G (p.Asp156Gly)	PTPN11 (D155G +1 more)	Single nucleotide variant (missense variant)	LEOPARD syndrome 1 +3 more	GUncertain significance
Select item 3574257	NM_002834.5(PTPN11):c.2T>G (p.Met1Arg)	PTPN11 (M1R)	Single nucleotide variant (missense variant +1 more)	LEOPARD syndrome 1 +3 more	GLikely pathogenic
Select item 3383157	NM_001042492.3(NF1):c.1722-20T>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1 +4 more	GUncertain significance
Select item 3382970	NM_001042492.3(NF1):c.6459_6476del (p.Thr2154_Pro2159del)	NF1	Deletion (inframe_deletion)	Neurofibromatosis, type 1 +4 more	GLikely pathogenic
Select item 3382484	NM_001042492.3(NF1):c.5278_5283del (p.Thr1760_Ala1761del)	NF1	Deletion (inframe_deletion)	Neurofibromatosis, type 1 +4 more	GUncertain significance
Select item 3382369	NM_001042492.3(NF1):c.2325+1del	NF1	Deletion (splice donor variant)	Neurofibromatosis, type 1 +4 more	GPathogenic
Select item 3382344	NM_001042492.3(NF1):c.4791del (p.Thr1598fs)	NF1 (T1577fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis, type 1 +4 more	GLikely pathogenic
Select item 3382274	NM_001042492.3(NF1):c.4066_4067del (p.Glu1356fs)	NF1 (E1356fs)	Deletion (frameshift variant)	Café-au-lait macules with pulmonary stenosis +4 more	GPathogenic/Likely pathogenic
Select item 3382254	NM_001042492.3(NF1):c.2603_2604dup (p.Pro869fs)	NF1 (P869fs)	Duplication (frameshift variant)	Neurofibromatosis, type 1 +4 more	GPathogenic
Select item 3382181	NM_001042492.3(NF1):c.4889_4899del (p.Thr1630fs)	NF1 (T1609fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis, type 1 +4 more	GLikely pathogenic
Select item 3382014	NM_001042492.3(NF1):c.5620del (p.Tyr1874fs)	NF1 (Y1853fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis, type 1 +4 more	GPathogenic
Select item 3380477	NM_001042492.3(NF1):c.7615+5G>C	NF1	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 3340504	NM_001042492.3(NF1):c.5907_5910del (p.Arg1970fs)	NF1 (R1949fs +1 more)	Deletion (frameshift variant)	Juvenile myelomonocytic leukemia +4 more	GPathogenic
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)	Café-au-lait macules with pulmonary stenosis +1 more	GPathogenic/Likely 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)	Metachondromatosis +3 more	GLikely pathogenic
Select item 2920256	NM_001042492.3(NF1):c.5093C>T (p.Thr1698Ile)	NF1 (T1698I +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +4 more	GUncertain significance
Select item 2905440	NM_001042492.3(NF1):c.3484A>C (p.Met1162Leu)	NF1 (M1162L)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +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)	Juvenile myelomonocytic leukemia +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)	Juvenile myelomonocytic leukemia +1 more	GUncertain significance
Select item 2802251	NM_001042492.3(NF1):c.7302G>C (p.Gln2434His)	NF1 (Q2434H +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis-Noonan syndrome +6 more	GUncertain significance
Select item 2783827	NM_001042492.3(NF1):c.5615C>T (p.Ala1872Val)	NF1 (A1851V +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +1 more	GUncertain significance
Select item 2780384	NM_001042492.3(NF1):c.1729del (p.Met577fs)	NF1 (M577fs)	Deletion (frameshift variant)	Cardiovascular phenotype +3 more	GPathogenic
Select item 2775456	NM_001042492.3(NF1):c.5524C>A (p.His1842Asn)	NF1 (H1821N +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +1 more	GUncertain significance
Select item 2759002	NM_001042492.3(NF1):c.3496+5G>T	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1 +4 more	GUncertain significance
Select item 2736564	NM_001042492.3(NF1):c.5908dup (p.Arg1970fs)	NF1 (R1970fs +1 more)	Duplication (frameshift variant)	Neurofibromatosis, familial spinal +4 more	GPathogenic
Select item 2736490	NM_001042492.3(NF1):c.3G>T (p.Met1Ile)	LOC111811965, MIR4733HG +1 more (M1I)	Single nucleotide variant (non-coding transcript variant +2 more)	Neurofibromatosis-Noonan syndrome +4 more	GPathogenic/Likely 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)	Cardiovascular phenotype +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

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