"Pediatrics Genetics, Post Graduate Institute of Medical Education and - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2573199	NM_001042492.3(NF1):c.430dup (p.Ser144fs)	NF1 (S144fs)	Duplication (frameshift variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 2573197	NM_001042492.3(NF1):c.4836-2A>G	NF1	Single nucleotide variant (splice acceptor variant)	Neurofibromatosis, type 1	GPathogenic/Likely pathogenic
Select item 2573198	NM_001042492.3(NF1):c.5059_5060del (p.Arg1687fs)	NF1 (R1666fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GLikely pathogenic
Select item 2573148	NM_001042492.3(NF1):c.6354del (p.Arg2119fs)	NF1 (R2098fs +1 more)	Deletion (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 2573147	NM_001042492.3(NF1):c.7744C>T (p.Gln2582Ter)	NF1 (Q2561* +1 more)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1	GLikely pathogenic

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