ClinVar for MedGen (Select 45058) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1301408	NM_001042492.3(NF1):c.6858C>T (p.Asn2286=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1 +1 more	GPathogenic
Select item 812898	NM_001042492.3(NF1):c.2182_2196delinsT (p.Val728fs)	NF1 (V728fs)	Indel (frameshift variant)	Juvenile myelomonocytic leukemia +1 more	GLikely pathogenic
Select item 638015	NM_001042492.3(NF1):c.7448_7457del (p.Pro2483fs)	NF1 (P2462fs +1 more)	Deletion (frameshift variant)	Neurofibroma	GPathogenic
Select item 637012	NM_001042492.3(NF1):c.2619_2622dup (p.Gly875Ter)	NF1 (G875*)	Duplication (nonsense)	Neurofibroma	GPathogenic
Select item 635821	NM_001042492.3(NF1):c.1919C>T (p.Thr640Ile)	NF1 (T640I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 635820	NM_001042492.3(NF1):c.7063-2A>G	NF1	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GPathogenic
Select item 635819	NM_001042492.3(NF1):c.2388del (p.Ala797fs)	NF1 (A797fs)	Deletion (frameshift variant)	Cardiovascular phenotype +2 more	GPathogenic
Select item 635818	NM_001042492.3(NF1):c.7458-1G>C	NF1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 523350	NM_001042492.3(NF1):c.6704+2del	NF1	Deletion (splice donor variant)	Cafe au lait spots, multiple +3 more	GPathogenic
Select item 523345	NM_001042492.3(NF1):c.4235G>C (p.Arg1412Thr)	NF1 (R1391T +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 523344	NM_001042492.3(NF1):c.4875C>G (p.Tyr1625Ter)	NF1 (Y1604* +1 more)	Single nucleotide variant (nonsense)	Cafe au lait spots, multiple +2 more	GPathogenic
Select item 457713	NM_001042492.3(NF1):c.4724+1G>A	NF1	Single nucleotide variant (splice donor variant)	not specified +1 more	GPathogenic/Likely pathogenic
Select item 374108	NM_001042492.3(NF1):c.1721+3A>G	NF1 (Y575C)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 1 +6 more	GPathogenic
Select item 374022	NM_001042492.3(NF1):c.2252-3T>G	NF1	Single nucleotide variant (intron variant)	Neurofibromatosis, type 1 +7 more	GPathogenic/Likely pathogenic
Select item 216065	NM_001042492.3(NF1):c.5812+332A>G	NF1	Single nucleotide variant (intron variant)	not provided +5 more	GPathogenic OLikely oncogenic
Select item 186215	NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs)	NF1	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic
Select item 44596	NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala)	PTPN11 (G409A +2 more)	Single nucleotide variant (missense variant)	not specified +9 more	GUncertain significance
Select item 40093	NM_001042492.3(NF1):c.574C>T (p.Arg192Ter)	NF1 (R192*)	Single nucleotide variant (nonsense)	Cafe au lait spots, multiple +9 more	GPathogenic
Select item 336	NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu)	NF1 (K1423E +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, familial spinal +12 more	GPathogenic