"Center for Genomic Medicine, Rigshospitalet, Copenhagen University Ho - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 257274	NM_001042492.3(NF1):c.-22G>C	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (5 prime UTR variant)	not specified +5 more	GBenign/Likely benign
Select item 322566	NM_001042492.3(NF1):c.61-4del	NF1	Deletion (intron variant)	not specified +7 more	GBenign/Likely benign
Select item 184126	NM_001042492.3(NF1):c.168C>T (p.Ser56=)	NF1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GBenign
Select item 439989	NM_001042492.3(NF1):c.730+32del	NF1	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1014352	NM_001042492.3(NF1):c.1940A>G (p.His647Arg)	NF1 (H647R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 215462	NM_001042492.3(NF1):c.2252-31A>T	NF1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 257282	NM_001042492.3(NF1):c.2851-16T>C	NF1	Single nucleotide variant (intron variant)	not specified +5 more	GBenign
Select item 1697587	NM_001042492.3(NF1):c.3198-9_3198-4dup	NF1	Duplication (intron variant)	not specified	GLikely benign
Select item 1217106	NM_001042492.3(NF1):c.3198-7_3198-4dup	NF1	Duplication (intron variant)	not provided +1 more	GLikely benign
Select item 996535	NM_001042492.3(NF1):c.3198-5_3198-4dup	NF1	Duplication (intron variant)	Neurofibromatosis, type 1 +2 more	GBenign/Likely benign
Select item 996534	NM_001042492.3(NF1):c.3198-4del	NF1	Deletion (intron variant)	Neurofibromatosis, type 1 +2 more	GBenign
Select item 353	NM_001042492.3(NF1):c.3827G>C (p.Arg1276Pro)	NF1 (R1276P)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1697588	NM_001042492.3(NF1):c.3974+49dup	NF1	Duplication (intron variant)	not specified	GBenign
Select item 1697589	NM_001042492.3(NF1):c.3974+49del	NF1	Deletion (intron variant)	not specified	GLikely benign
Select item 2691923	NM_002544.5(OMG):c.-8C>T	NF1, OMG	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 41672	NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val)	NF1 (I1658V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GBenign/Likely benign
Select item 184131	NM_001042492.3(NF1):c.5235G>A (p.Lys1745=)	NF1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 1204905	NM_001042492.3(NF1):c.6148-29_6148-28del	NF1	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 439972	NM_001042492.3(NF1):c.6148-28del	NF1	Deletion (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1697590	NM_001042492.3(NF1):c.6148-30T>A	NF1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1292850	NM_001042492.3(NF1):c.6148-29_6148-28insA	NF1	Insertion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1697591	NM_001042492.3(NF1):c.6148-17_6148-16insCA	NF1	Insertion (intron variant)	not specified	GLikely benign
Select item 257297	NM_001042492.3(NF1):c.6642+45T>A	NF1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 185805	NM_001042492.3(NF1):c.6704+3A>G	NF1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 480104	NM_001042492.3(NF1):c.6805C>T (p.Arg2269Cys)	NF1 (R2248C +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 257304	NM_001042492.3(NF1):c.7738+46G>A	NF1	Single nucleotide variant (intron variant)	NF1-related condition +2 more	GBenign/Likely benign
Select item 257306	NM_001042492.3(NF1):c.8113+20G>A	NF1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 184299	NM_001042492.3(NF1):c.8216T>C (p.Ile2739Thr)	NF1 (I2718T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity

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Items: 28