C3541319[trait identifier] AND "Shenzhen Institute of Pediatrics, Shen - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 430660	NM_015909.4(NBAS):c.2065T>C (p.Leu689=)	NBAS	Single nucleotide variant (synonymous variant +1 more)	Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome	GUncertain significance
Select item 430659	NM_015909.4(NBAS):c.586C>T (p.Gln196Ter)	NBAS (Q196*)	Single nucleotide variant (nonsense +1 more)	Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome +1 more	GPathogenic