NF1 Ser1078* - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 995899	NM_001042492.3(NF1):c.3232dup (p.Ser1078fs)	NF1 (S1078fs)	Duplication (frameshift variant)	Neurofibromatosis, type 1 +1 more	GPathogenic
Select item 956966	NM_001042492.3(NF1):c.3233C>G (p.Ser1078Ter)	NF1 (S1078*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1	GPathogenic
Select item 1561309	NM_001042492.3(NF1):c.3234A>T (p.Ser1078=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1	GLikely benign
Select item 1544046	NM_001042492.3(NF1):c.3234A>C (p.Ser1078=)	NF1	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1	GLikely benign

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