ClinVar for MedGen (Select 18764) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 691941	NM_014681.6(DHX34):c.466C>T (p.Gln156Ter)	DHX34 (Q156*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorders +6 more	GLikely pathogenic
Select item 599283	NM_002317.7(LOX):c.760G>A (p.Val254Ile)	LOX, SRFBP1 (V254I +1 more)	Single nucleotide variant (missense variant +1 more)	Interphalangeal joint contracture of finger +5 more	GConflicting classifications of pathogenicity