"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar

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Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 506282	NM_001042492.2(NF1):c.(?_-50)_(*68_?)del	EVI2A, EVI2B +13 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 184126	NM_001042492.3(NF1):c.168C>T (p.Ser56=)	NF1	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign
Select item 449419	NM_001042492.3(NF1):c.204+1G>T	NF1	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 457582	NM_001042492.3(NF1):c.239A>C (p.Tyr80Ser)	NF1 (Y80S)	Single nucleotide variant (missense variant)	not specified +3 more	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 183825	NM_001042492.3(NF1):c.702G>A (p.Leu234=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis-Noonan syndrome +7 more	GBenign
Select item 517245	NM_001042492.3(NF1):c.839T>C (p.Ile280Thr)	NF1 (I280T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 184123	NM_001042492.3(NF1):c.846G>A (p.Gln282=)	NF1	Single nucleotide variant (synonymous variant)	not specified +8 more	GBenign/Likely benign
Select item 184914	NM_001042492.3(NF1):c.861C>T (p.Asp287=)	NF1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 231063	NM_001042492.3(NF1):c.862G>A (p.Val288Met)	NF1 (V288M)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 227740	NM_001042492.3(NF1):c.1450C>T (p.Leu484=)	NF1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GLikely benign
Select item 184133	NM_001042492.3(NF1):c.1810T>C (p.Leu604=)	NF1	Single nucleotide variant (synonymous variant)	not specified +8 more	GBenign/Likely benign
Select item 226850	NM_001042492.3(NF1):c.1845+13A>T	NF1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 184221	NM_001042492.3(NF1):c.1976G>A (p.Arg659Gln)	NF1 (R659Q)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 134881	NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe)	NF1 (S665F)	Single nucleotide variant (missense variant)	Café-au-lait macules with pulmonary stenosis +7 more	GConflicting classifications of pathogenicity
Select item 141819	NM_001042492.3(NF1):c.2022C>T (p.Ser674=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, familial spinal +7 more	GBenign/Likely benign
Select item 141513	NM_001042492.3(NF1):c.2033dup (p.Ile679fs)	NF1 (I679fs)	Duplication (frameshift variant)	NF1-related disorder +5 more	GPathogenic
Select item 183826	NM_001042492.3(NF1):c.2034G>A (p.Pro678=)	NF1	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign
Select item 215710	NM_001042492.3(NF1):c.2061A>G (p.Leu687=)	NF1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 68312	NM_001042492.3(NF1):c.2288T>C (p.Leu763Pro)	NF1 (L763P)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +3 more	GPathogenic/Likely pathogenic
Select item 229062	NM_001042492.3(NF1):c.2410-12T>C	NF1	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 183949	NM_001042492.3(NF1):c.2544G>A (p.Gly848=)	NF1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +7 more	GBenign
Select item 141855	NM_001042492.3(NF1):c.2553C>T (p.Cys851=)	NF1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 232417	NM_001042492.3(NF1):c.2619T>C (p.Arg873=)	NF1	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 363	NM_001042492.3(NF1):c.2970_2972del (p.Met992del)	NF1 (M992del)	Deletion (inframe_deletion)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 184057	NM_001042492.3(NF1):c.2985G>C (p.Leu995=)	NF1	Single nucleotide variant (synonymous variant)	not provided +8 more	GBenign/Likely benign
Select item 517397	NM_001042492.3(NF1):c.3060del (p.Glu1020_Val1021insTer)	NF1	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 3075906	NM_001042492.3(NF1):c.3200_3201insATTTT (p.Asp1067fs)	NF1 (D1067fs)	Insertion (frameshift variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 3075881	NM_001042492.3(NF1):c.3202_3203dup (p.Leu1068fs)	NF1 (L1068fs)	Duplication (frameshift variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 184233	NM_001042492.3(NF1):c.3270A>C (p.Gly1090=)	NF1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 141451	NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile)	NF1 (V1146I)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 142037	NM_001042492.3(NF1):c.3498C>T (p.Gly1166=)	NF1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 186782	NM_001042492.3(NF1):c.3732T>A (p.Val1244=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 68341	NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln)	NF1 (R1276Q)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +7 more	GPathogenic
Select item 184320	NM_001042492.3(NF1):c.3867C>T (p.Phe1289=)	NF1	Single nucleotide variant (synonymous variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 185777	NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala)	NF1 (T1295A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 184231	NM_001042492.3(NF1):c.4269A>G (p.Glu1423=)	NF1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 336	NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu)	NF1 (K1423E +1 more)	Single nucleotide variant (missense variant)	not provided +12 more	GPathogenic
Select item 219892	NM_001042492.3(NF1):c.4362C>T (p.Leu1454=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1 +3 more	GLikely benign
Select item 227741	NM_001042492.3(NF1):c.4577+11C>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, familial spinal +5 more	GBenign/Likely benign
Select item 226851	NM_001042492.3(NF1):c.4577+12C>T	NF1	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 504984	NM_001042492.3(NF1):c.4624C>G (p.Leu1542Val)	NF1 (L1521V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 227742	NM_001042492.3(NF1):c.4724+11A>G	NF1	Single nucleotide variant (intron variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 227743	NM_001042492.3(NF1):c.4752C>T (p.Phe1584=)	NF1	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 517163	NM_001042492.3(NF1):c.4835G>T (p.Arg1612Met)	NF1 (R1591M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 504973	NM_001042492.3(NF1):c.4835+3A>G	NF1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 403230	NM_014210.4(EVI2A):c.-1C>T	EVI2A, NF1	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GBenign
Select item 184058	NM_001042492.3(NF1):c.4882T>C (p.Leu1628=)	NF1	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign
Select item 184149	NM_001042492.3(NF1):c.4929G>A (p.Val1643=)	NF1	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign
Select item 186765	NM_001042492.3(NF1):c.4944C>T (p.Thr1648=)	NF1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 41672	NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val)	NF1 (I1658V +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis-Noonan syndrome +7 more	GBenign/Likely benign
Select item 227744	NM_001042492.3(NF1):c.5229T>C (p.Ala1743=)	NF1	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 184131	NM_001042492.3(NF1):c.5235G>A (p.Lys1745=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, familial spinal +7 more	GBenign/Likely benign
Select item 228381	NM_001042492.3(NF1):c.5305C>T (p.Arg1769Ter)	NF1 (R1748* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 517503	NM_001042492.3(NF1):c.5481C>G (p.Ile1827Met)	NF1 (I1806M +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +3 more	GUncertain significance
Select item 208853	NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys)	NF1 (R1809C +1 more)	Single nucleotide variant (missense variant)	not specified +10 more	GPathogenic
Select item 229063	NM_001042492.3(NF1):c.5509G>A (p.Asp1837Asn)	NF1 (D1816N +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 257294	NM_001042492.3(NF1):c.5609+19T>A	NF1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 215465	NM_001042492.3(NF1):c.6147+8C>G	NF1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +7 more	GBenign/Likely benign
Select item 505226	NM_001042492.3(NF1):c.6161T>A (p.Met2054Lys)	NF1 (M2033K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 186545	NM_001042492.3(NF1):c.6171A>T (p.Ile2057=)	NF1	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
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 +5 more	GConflicting classifications of pathogenicity
Select item 237583	NM_001042492.3(NF1):c.6334G>A (p.Ala2112Thr)	NF1 (A2091T +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 227745	NM_001042492.3(NF1):c.6366A>G (p.Thr2122=)	NF1	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 184762	NM_001042492.3(NF1):c.6375G>A (p.Leu2125=)	NF1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 184228	NM_001042492.3(NF1):c.6393C>T (p.His2131=)	NF1	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign
Select item 517380	NM_001042492.3(NF1):c.6617C>T (p.Thr2206Ile)	NF1 (T2185I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 227746	NM_001042492.3(NF1):c.6732G>A (p.Leu2244=)	NF1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 228382	NM_000267.3(NF1):c.6791dup (p.Tyr2264Ter)	NF1 (Y2264* +1 more)	Duplication	Cardiovascular phenotype +4 more	GPathogenic
Select item 215724	NM_001042492.3(NF1):c.6921+10G>A	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 41675	NM_001042492.3(NF1):c.6929C>T (p.Pro2310Leu)	NF1 (P2289L +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis-Noonan syndrome +7 more	GConflicting classifications of pathogenicity
Select item 226852	NM_001042492.3(NF1):c.7190-33TTGT[5]	NF1	Microsatellite (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 939750	NM_001042492.3(NF1):c.7190-1G>A	NF1	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 220819	NM_001042492.3(NF1):c.7322-17C>T	NF1	Single nucleotide variant (intron variant)	Juvenile myelomonocytic leukemia +7 more	GBenign/Likely benign
Select item 184263	NM_001042492.3(NF1):c.7368A>G (p.Lys2456=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis-Noonan syndrome +7 more	GBenign/Likely benign
Select item 229064	NM_001042492.3(NF1):c.7439A>G (p.His2480Arg)	NF1 (H2459R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +8 more	GConflicting classifications of pathogenicity
Select item 185009	NM_001042492.3(NF1):c.7461A>G (p.Thr2487=)	NF1	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 134889	NM_001042492.3(NF1):c.7531G>C (p.Val2511Leu)	NF1 (V2490L +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +8 more	GBenign/Likely benign
Select item 184154	NM_001042492.3(NF1):c.7584A>G (p.Gln2528=)	NF1	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign/Likely benign
Select item 41678	NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val)	NF1 (A2511V +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis-Noonan syndrome +7 more	GBenign/Likely benign
Select item 184185	NM_001042492.3(NF1):c.7755C>T (p.Ser2585=)	NF1	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign
Select item 3075932	NM_001042492.3(NF1):c.7970+2T>G	NF1	Single nucleotide variant (splice donor variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 185941	NM_001042492.3(NF1):c.7988C>T (p.Ser2663Phe)	NF1 (S2642F +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 141033	NM_001042492.3(NF1):c.8151G>A (p.Pro2717=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis-Noonan syndrome +6 more	GBenign/Likely benign
Select item 229065	NM_001042492.3(NF1):c.8162A>G (p.Gln2721Arg)	NF1 (Q2700R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 404536	NM_001042492.3(NF1):c.8479G>A (p.Ala2827Thr)	NF1 (A2806T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 184533	NM_001042492.3(NF1):c.8499T>C (p.Asn2833=)	NF1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +7 more	GBenign/Likely benign
Select item 184532	NM_001042492.3(NF1):c.*4T>C	NF1	Single nucleotide variant (3 prime UTR variant)	not specified +6 more	GBenign/Likely benign

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Items: 88