C0027830[trait identifier] AND "NIHR Bioresource Rare Diseases, Univer - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 40093	NM_001042492.3(NF1):c.574C>T (p.Arg192Ter)	NF1 (R192*)	Single nucleotide variant (nonsense)	Juvenile myelomonocytic leukemia +8 more	GPathogenic
Select item 812898	NM_001042492.3(NF1):c.2182_2196delinsT (p.Val728fs)	NF1 (V728fs)	Indel (frameshift variant)	Neurofibroma +1 more	GLikely pathogenic
Select item 457713	NM_001042492.3(NF1):c.4724+1G>A	NF1	Single nucleotide variant (splice donor variant)	Neurofibromatosis, type 1 +1 more	GPathogenic/Likely pathogenic

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