"Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine"[submitter - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 984983	NM_022463.5(NXN):c.817C>T (p.Gln273Ter)	NXN (Q165* +1 more)	Single nucleotide variant (nonsense)	Robinow syndrome, autosomal recessive 2	GPathogenic
Select item 488056	NM_022463.5(NXN):c.625C>T (p.Arg209Ter)	NXN (R209* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GLikely pathogenic
Select item 984984	GRCh37/hg19 17p13.3(chr17:1-1026797)x1	GEMIN4, ABR +10 more	Copy number loss	Robinow syndrome, autosomal recessive 2	GLikely pathogenic

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