"ITMI"[submitter] AND "NF1"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 134886	NM_001042492.3(NF1):c.456A>G (p.Ala152=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1 +2 more	GLikely benign
Select item 41673	NM_001042492.3(NF1):c.528T>A (p.Asp176Glu)	NF1 (D176E)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 134888	NM_001042492.3(NF1):c.584A>G (p.Lys195Arg)	NF1 (K195R)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 134879	NM_001042492.3(NF1):c.1549G>A (p.Glu517Lys)	NF1 (E517K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 134883	NM_001042492.3(NF1):c.1894T>A (p.Cys632Ser)	NF1 (C632S)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 134880	NM_001042492.3(NF1):c.1933A>G (p.Met645Val)	NF1 (M645V)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign/Likely benign
Select item 134882	NM_001042492.3(NF1):c.1955G>A (p.Arg652His)	NF1 (R652H)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 134881	NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe)	NF1 (S665F)	Single nucleotide variant (missense variant)	Café-au-lait macules with pulmonary stenosis +7 more	GConflicting classifications of pathogenicity
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 134884	NM_001042492.3(NF1):c.2572T>C (p.Ser858Pro)	NF1 (S858P)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +2 more	GUncertain significance
Select item 134885	NM_001042492.3(NF1):c.3415G>A (p.Ala1139Thr)	NF1 (A1139T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 41672	NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val)	NF1 (I1658V +1 more)	Single nucleotide variant (missense variant)	not provided +7 more	GBenign/Likely benign
Select item 134887	NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val)	NF1 (I2037V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 134889	NM_001042492.3(NF1):c.7531G>C (p.Val2511Leu)	NF1 (V2490L +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +8 more	GBenign/Likely benign
Select item 134890	NM_001042492.3(NF1):c.7837C>G (p.Pro2613Ala)	NF1 (P2592A +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134891	NM_001042492.3(NF1):c.8515G>A (p.Val2839Met)	NF1 (V2818M +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +3 more	GConflicting classifications of pathogenicity