C2931482[trait identifier] AND "Greenwood Genetic Center Diagnostic La - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 184278	NM_001042492.3(NF1):c.1987G>A (p.Gly663Arg)	NF1 (G663R)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 188280	NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter)	NF1 (R681*)	Single nucleotide variant (nonsense)	Cafe-au-lait spot +8 more	GPathogenic
Select item 280055	NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter)	NF1 (R816*)	Single nucleotide variant (nonsense)	Neurofibromatosis, familial spinal +13 more	GPathogenic
Select item 363	NM_001042492.3(NF1):c.2970_2972del (p.Met992del)	NF1 (M992del)	Deletion (inframe_deletion)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic/Likely pathogenic
Select item 547644	NM_001042492.3(NF1):c.4369_4371del (p.Lys1457del)	NF1 (K1436del +1 more)	Deletion (inframe_deletion)	Neurofibromatosis-Noonan syndrome +2 more	GConflicting classifications of pathogenicity
Select item 208853	NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys)	NF1 (R1809C +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +11 more	GConflicting classifications of pathogenicity
Select item 185082	NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter)	NF1 (Y2264* +1 more)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1 +7 more	GPathogenic
Select item 230467	NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter)	NF1 (R2496* +1 more)	Single nucleotide variant (nonsense)	not specified +9 more	GPathogenic
Select item 184261	NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter)	NF1 (R2616* +1 more)	Single nucleotide variant (nonsense)	not provided +8 more	GPathogenic/Likely pathogenic