NF1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 561547	NM_001042492.3(NF1):c.60+217C>T	NF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212205	NM_001042492.3(NF1):c.60+8870T>C	NF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1294464	NM_001042492.3(NF1):c.60+9020G>A	NF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 341	NM_001042492.3(NF1):c.60+18227_60+18228insGGGCATGAACAACAGAAACTACCTGCTGCCACCTTGGCTTTA	NF1	Insertion (intron variant)	Café-au-lait macules with pulmonary stenosis	GPathogenic
Select item 2576137	NM_001042492.3(NF1):c.60+29485G>A	NF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1335266	NM_001042492.3(NF1):c.61-16301G>A	NF1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1240499	NM_001042492.3(NF1):c.61-7573dup	NF1	Duplication (intron variant)	not provided	GBenign
Select item 3039104	NM_001042492.3(NF1):c.61-7497_61-7496dup	NF1	Duplication (intron variant)	NF1-related disorder	GLikely benign
Select item 2813469	NM_001042492.3(NF1):c.61-7486G>C	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 2143911	NM_001042492.3(NF1):c.61-7464_61-7440dup	NF1	Duplication (intron variant)	Neurofibromatosis, type 1	GLikely benign
Select item 636832	NM_001042492.3(NF1):c.61-7486G>T	NF1	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1692344	NM_001042492.3(NF1):c.61-7464_61-7440del	NF1	Deletion (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3043820	NM_001042492.3(NF1):c.61-7480T>C	NF1	Single nucleotide variant (intron variant)	NF1-related disorder	GLikely benign
Select item 1203148	NM_001042492.3(NF1):c.61-7155A>G	NF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 217105	NM_001042492.3(NF1):c.61-6522_204+1022dup	NF1	Duplication (splice acceptor variant +1 more)	Neurofibromatosis, type 1	GPathogenic
Select item 561756	NM_001042492.3(NF1):c.61-300C>T	NF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214908	NM_001042492.3(NF1):c.61-243T>G	NF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 561463	NM_001042492.3(NF1):c.61-123G>A	NF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 918107	NM_001042492.3(NF1):c.61-14dup	NF1	Duplication (intron variant)	not specified	GBenign
Select item 439971	NM_001042492.3(NF1):c.61-14del	NF1	Deletion (intron variant)	not specified	GBenign
Select item 1642467	NM_001042492.3(NF1):c.61-19T>C	NF1	Single nucleotide variant (intron variant)	Juvenile myelomonocytic leukemia +4 more	GLikely benign
Select item 1692343	NM_001042492.3(NF1):c.61-13_61-12del	NF1	Deletion (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1197213	NM_001042492.3(NF1):c.61-4dup	NF1	Duplication (intron variant)	Neurofibromatosis, type 1 +2 more	GBenign/Likely benign
Select item 516921	NM_001042492.3(NF1):c.61-13del	NF1	Deletion (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 322566	NM_001042492.3(NF1):c.61-4del	NF1	Deletion (intron variant)	Hereditary cancer-predisposing syndrome +7 more	GBenign/Likely benign
Select item 981529	NM_001042492.3(NF1):c.61-11_61-2del	NF1	Deletion (splice acceptor variant)	Neurofibromatosis, type 1	GPathogenic
Select item 457784	NM_001042492.3(NF1):c.61-9T>C	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, familial spinal +5 more	GConflicting classifications of pathogenicity
Select item 1093986	NM_001042492.3(NF1):c.61-8T>C	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GLikely benign
Select item 2818847	NM_001042492.3(NF1):c.61-5T>C	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1	GLikely benign
Select item 2276805	NM_001042492.3(NF1):c.61-4T>C	NF1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1539666	NM_001042492.3(NF1):c.61-3dup	NF1	Duplication (intron variant)	Neurofibromatosis, type 1	GLikely benign
Select item 3057725	NM_001042492.3(NF1):c.61-3C>A	NF1	Single nucleotide variant (intron variant)	NF1-related disorder	GLikely benign
Select item 2725128	NM_001042492.3(NF1):c.61-3del	NF1	Deletion (intron variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 998047	NM_001042492.3(NF1):c.61-2A>C	NF1	Single nucleotide variant (splice acceptor variant)	Neurofibromatosis, type 1	GPathogenic
Select item 457782	NM_001042492.3(NF1):c.61-2A>G	NF1	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GPathogenic/Likely pathogenic
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 943213	NM_001042492.3(NF1):c.61-1G>A	NF1	Single nucleotide variant (splice acceptor variant)	Neurofibromatosis, type 1	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 1752164	NM_001042492.3(NF1):c.61C>A (p.Leu21Ile)	NF1 (L21I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1009132	NM_001042492.3(NF1):c.61C>G (p.Leu21Val)	NF1 (L21V)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 1523219	NM_001042492.3(NF1):c.62T>A (p.Leu21His)	NF1 (L21H)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 577584	NM_001042492.3(NF1):c.62T>C (p.Leu21Pro)	NF1 (L21P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 837341	NM_001042492.3(NF1):c.64C>G (p.Pro22Ala)	NF1 (P22A)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
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 957418	NM_001042492.3(NF1):c.65C>T (p.Pro22Leu)	NF1 (P22L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1754967	NM_001042492.3(NF1):c.66A>G (p.Pro22=)	NF1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 817575	NM_001042492.3(NF1):c.67del (p.Pro22_Ile23insTer)	NF1	Deletion (nonsense)	not provided	GPathogenic
Select item 1453179	NM_001042492.3(NF1):c.68dup (p.Thr25fs)	NF1 (T25fs)	Duplication (frameshift variant)	Neurofibromatosis, type 1 +2 more	GPathogenic/Likely pathogenic
Select item 404464	NM_001042492.3(NF1):c.67A>G (p.Ile23Val)	NF1 (I23V)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 1454554	NM_001042492.3(NF1):c.72_73dup (p.Thr25fs)	NF1 (T25fs)	Duplication (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 374082	NM_001042492.3(NF1):c.68del (p.Ile23fs)	NF1 (I23fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 481961	NM_001042492.3(NF1):c.69A>G (p.Ile23Met)	NF1 (I23M)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +2 more	GUncertain significance
Select item 1385992	NM_001042492.3(NF1):c.70A>T (p.Lys24Ter)	NF1 (K24*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1	GPathogenic
Select item 1757637	NM_001042492.3(NF1):c.71A>G (p.Lys24Arg)	NF1 (K24R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 846275	NM_001042492.3(NF1):c.74C>G (p.Thr25Arg)	NF1 (T25R)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 480097	NM_001042492.3(NF1):c.74C>T (p.Thr25Ile)	NF1 (T25I)	Single nucleotide variant (missense variant)	NF1-related disorder +2 more	GUncertain significance
Select item 1410712	NM_001042492.3(NF1):c.77dup (p.Gln27fs)	NF1 (Q27fs)	Duplication (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 457852	NM_001042492.3(NF1):c.75A>C (p.Thr25=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1	GLikely benign
Select item 1410768	NM_001042492.3(NF1):c.77del (p.Gly26fs)	NF1 (G26fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 480178	NM_001042492.3(NF1):c.76G>A (p.Gly26Arg)	NF1 (G26R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1423569	NM_001042492.3(NF1):c.77G>A (p.Gly26Glu)	NF1 (G26E)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 1761106	NM_001042492.3(NF1):c.78A>G (p.Gly26=)	NF1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 651212	NM_001042492.3(NF1):c.78A>T (p.Gly26=)	NF1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2714057	NM_001042492.3(NF1):c.79del (p.Gln27fs)	NF1 (Q27fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 404581	NM_001042492.3(NF1):c.79C>T (p.Gln27Ter)	NF1 (Q27*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 759242	NM_001042492.3(NF1):c.81G>A (p.Gln27=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1 +2 more	GLikely benign
Select item 429015	NM_001042492.3(NF1):c.82C>T (p.Gln28Ter)	NF1 (Q28*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 142742	NM_001042492.3(NF1):c.83A>C (p.Gln28Pro)	NF1 (Q28P)	Single nucleotide variant (missense variant)	NF1-related disorder +4 more	GUncertain significance
Select item 446473	NM_001042492.3(NF1):c.84del (p.Asn29fs)	NF1 (N29fs)	Deletion (frameshift variant)	Spinal neurofibroma	GPathogenic
Select item 1438107	NM_001042492.3(NF1):c.91_92dup (p.Thr32fs)	NF1 (T32fs)	Microsatellite (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 2103660	NM_001042492.3(NF1):c.86A>G (p.Asn29Ser)	NF1 (N29S)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 569660	NM_001042492.3(NF1):c.91_92del (p.His31fs)	NF1 (H31fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 2130802	NM_001042492.3(NF1):c.87C>A (p.Asn29Lys)	NF1 (N29K)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 413017	NM_001042492.3(NF1):c.87C>T (p.Asn29=)	NF1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 2502029	NM_001042492.3(NF1):c.88A>G (p.Thr30Ala)	NF1 (T30A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1439462	NM_001042492.3(NF1):c.88del (p.Thr30fs)	NF1 (T30fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 457875	NM_001042492.3(NF1):c.88A>C (p.Thr30Pro)	NF1 (T30P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 2858198	NM_001042492.3(NF1):c.91del (p.His31fs)	NF1 (H31fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 844050	NM_001042492.3(NF1):c.91C>G (p.His31Asp)	NF1 (H31D)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 186329	NM_001042492.3(NF1):c.91C>T (p.His31Tyr)	NF1 (H31Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1766469	NM_001042492.3(NF1):c.92A>C (p.His31Pro)	NF1 (H31P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 823217	NM_001042492.3(NF1):c.93dup (p.Thr32fs)	NF1 (T32fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 68364	NM_001042492.3(NF1):c.92A>G (p.His31Arg)	NF1 (H31R)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +2 more	GUncertain significance
Select item 2830388	NM_001042492.3(NF1):c.93_94insTA (p.Thr32Ter)	NF1 (T32*)	Insertion (nonsense)	Neurofibromatosis, type 1	GPathogenic
Select item 1454585	NM_001042492.3(NF1):c.94dup (p.Thr32fs)	NF1 (T32fs)	Duplication (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1392452	NM_001042492.3(NF1):c.93T>A (p.His31Gln)	NF1 (H31Q)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +2 more	GUncertain significance
Select item 1709009	NM_001042492.3(NF1):c.94A>G (p.Thr32Ala)	NF1 (T32A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 948830	NM_001042492.3(NF1):c.95C>A (p.Thr32Asn)	NF1 (T32N)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 1608635	NM_001042492.3(NF1):c.96C>A (p.Thr32=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1	GLikely benign
Select item 527660	NM_001042492.3(NF1):c.96C>G (p.Thr32=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1	GLikely benign
Select item 2736491	NM_001042492.3(NF1):c.98_99del (p.Lys33fs)	NF1 (K33fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 666183	NM_001042492.3(NF1):c.97A>T (p.Lys33Ter)	NF1 (K33*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1	GPathogenic
Select item 404529	NM_001042492.3(NF1):c.97A>G (p.Lys33Glu)	NF1 (K33E)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 404524	NM_001042492.3(NF1):c.99del (p.Val34fs)	NF1 (V34fs)	Deletion (frameshift variant)	Neurofibromatosis, type 1 +2 more	GPathogenic
Select item 457881	NM_001042492.3(NF1):c.98A>G (p.Lys33Arg)	NF1 (K33R)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +3 more	GUncertain significance
Select item 186861	NM_001042492.3(NF1):c.99A>G (p.Lys33=)	NF1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 186105	NM_001042492.3(NF1):c.100G>A (p.Val34Ile)	NF1 (V34I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 2698293	NM_001042492.3(NF1):c.101T>G (p.Val34Gly)	NF1 (V34G)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 1009951	NM_001042492.3(NF1):c.101T>C (p.Val34Ala)	NF1 (V34A)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 1536366	NM_001042492.3(NF1):c.102C>A (p.Val34=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1	GLikely benign

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