"GeneKor MSA"[submitter] AND "NF1"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 142858	NM_001042492.3(NF1):c.241C>A (p.Leu81Ile)	NF1 (L81I)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +4 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 +2 more	GConflicting classifications of pathogenicity
Select item 141982	NM_001042492.3(NF1):c.1166A>G (p.His389Arg)	NF1 (H389R)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 584539	NM_001042492.3(NF1):c.1243C>T (p.His415Tyr)	NF1 (H415Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 584470	NM_001042492.3(NF1):c.2455del (p.His819fs)	NF1 (H819fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 41670	NM_001042492.3(NF1):c.2585C>G (p.Thr862Ser)	NF1 (T862S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 237541	NM_001042492.3(NF1):c.2819C>G (p.Thr940Ser)	NF1 (T940S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 141451	NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile)	NF1 (V1146I)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 185777	NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala)	NF1 (T1295A)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 229695	NM_001042492.3(NF1):c.4357G>A (p.Val1453Ile)	NF1 (V1432I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 230792	NM_001042492.3(NF1):c.4446A>G (p.Ile1482Met)	NF1 (I1461M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 230791	NM_001042492.3(NF1):c.6779C>T (p.Ser2260Phe)	NF1 (S2239F +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +2 more	GUncertain significance
Select item 584540	NM_001042492.3(NF1):c.7065T>G (p.Ser2355Arg)	NF1 (S2334R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 584541	NM_001042492.3(NF1):c.8514C>G (p.Ile2838Met)	NF1 (I2838M +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance