"Diagnostic Laboratory, Department of Genetics, University Medical Cen - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 185021	NM_001042492.3(NF1):c.499_502del (p.Cys167fs)	NF1 (C167fs)	Microsatellite (frameshift variant)	Inborn genetic diseases +5 more	GPathogenic
Select item 41673	NM_001042492.3(NF1):c.528T>A (p.Asp176Glu)	NF1 (D176E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 1174859	NM_001042492.3(NF1):c.544_550del (p.Tyr182fs)	NF1 (Y182fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 40093	NM_001042492.3(NF1):c.574C>T (p.Arg192Ter)	NF1 (R192*)	Single nucleotide variant (nonsense)	Juvenile myelomonocytic leukemia +8 more	GPathogenic
Select item 183825	NM_001042492.3(NF1):c.702G>A (p.Leu234=)	NF1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +7 more	GBenign
Select item 184123	NM_001042492.3(NF1):c.846G>A (p.Gln282=)	NF1	Single nucleotide variant (synonymous variant)	not provided +8 more	GBenign/Likely benign
Select item 184133	NM_001042492.3(NF1):c.1810T>C (p.Leu604=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis-Noonan syndrome +9 more	GBenign/Likely benign
Select item 141513	NM_001042492.3(NF1):c.2033dup (p.Ile679fs)	NF1 (I679fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic
Select item 41669	NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu)	NF1 (P678L)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +5 more	GConflicting classifications of pathogenicity
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 280055	NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter)	NF1 (R816*)	Single nucleotide variant (nonsense)	Juvenile myelomonocytic leukemia +13 more	GPathogenic
Select item 41670	NM_001042492.3(NF1):c.2585C>G (p.Thr862Ser)	NF1 (T862S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 184364	NM_001042492.3(NF1):c.3468C>T (p.Asn1156=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis-Noonan syndrome +7 more	GBenign/Likely benign
Select item 484142	NM_001042492.3(NF1):c.3694C>T (p.Pro1232Ser)	NF1 (P1232S)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +6 more	GUncertain significance
Select item 361	NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter)	NF1 (R1241*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +3 more	GPathogenic
Select item 655055	NM_001042492.3(NF1):c.3772T>C (p.Trp1258Arg)	NF1 (W1258R)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 237556	NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter)	NF1 (R1276*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 808252	NM_001042492.3(NF1):c.4332+22_4332+25del	NF1	Deletion (intron variant)	Neurofibromatosis, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 184131	NM_001042492.3(NF1):c.5235G>A (p.Lys1745=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis-Noonan syndrome +7 more	GBenign/Likely benign
Select item 257294	NM_001042492.3(NF1):c.5609+19T>A	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, familial spinal +3 more	GBenign
Select item 215465	NM_001042492.3(NF1):c.6147+8C>G	NF1	Single nucleotide variant (intron variant)	not specified +7 more	GBenign/Likely benign
Select item 404599	NM_001042492.3(NF1):c.6704+1G>A	NF1	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic
Select item 1299266	NM_001042492.3(NF1):c.7266del (p.Lys2422fs)	NF1 (K2401fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 134889	NM_001042492.3(NF1):c.7531G>C (p.Val2511Leu)	NF1 (V2490L +1 more)	Single nucleotide variant (missense variant)	not specified +8 more	GBenign/Likely benign

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Items: 25