"Institute of Human Genetics, University of Goettingen"[submitter] AND - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2572054	NM_001042492.3(NF1):c.1485_1488dup (p.Val497fs)	NF1 (V497fs)	Duplication (frameshift variant)	Neurofibromatosis, type 1	GPathogenic
Select item 1329856	NM_001042492.3(NF1):c.6819+1G>T	NF1	Single nucleotide variant (splice donor variant)	Neurofibromatosis-Noonan syndrome +1 more	GPathogenic
Select item 1684622	NM_001042492.3(NF1):c.7919A>T (p.Tyr2640Phe)	NF1 (Y2619F +1 more)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GUncertain significance

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