"GenomeConnect - Invitae Patient Insights Network"[submitter] AND "NF1 - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 233074	NM_001042492.3(NF1):c.872A>C (p.Glu291Ala)	NF1 (E291A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 439976	NM_001042492.3(NF1):c.1185+2T>G	NF1	Single nucleotide variant (splice donor variant)	Neurofibromatosis, type 1 +1 more	GPathogenic
Select item 68308	NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg)	NF1 (G629R)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 457565	NM_001042492.3(NF1):c.2131C>T (p.Arg711Cys)	NF1 (R711C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 527423	NM_001042492.3(NF1):c.2159G>A (p.Arg720Gln)	NF1 (R720Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 849592	NM_001042492.3(NF1):c.2989A>G (p.Arg997Gly)	NF1 (R997G)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 457635	NM_001042492.3(NF1):c.3238C>G (p.Leu1080Val)	NF1 (L1080V)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance
Select item 457654	NM_001042492.3(NF1):c.3544G>T (p.Val1182Phe)	NF1 (V1182F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 141747	NM_001042492.3(NF1):c.3604G>T (p.Ala1202Ser)	NF1 (A1202S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 185835	NM_001042492.3(NF1):c.4394A>G (p.Asn1465Ser)	NF1 (N1444S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 141323	NM_001042492.3(NF1):c.4526G>A (p.Arg1509His)	NF1 (R1488H +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 960019	NM_001042492.3(NF1):c.5327C>G (p.Ser1776Ter)	NF1 (S1776* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 854100	NM_001042492.3(NF1):c.8084C>T (p.Pro2695Leu)	NF1 (P2674L +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +3 more	GUncertain significance