Related gene-specific medical variations for Gene (Select 1660) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359695	NM_001357.5(DHX9):c.1469C>T (p.Thr490Ile)	DHX9 (T490I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359027	NM_001357.5(DHX9):c.1876C>T (p.Gln626Ter)	DHX9 (Q626*)	Single nucleotide variant (nonsense +1 more)	DHX9-associated neurodevelopmental disorder	GPathogenic
Select item 2627913	NM_001357.5(DHX9):c.2291G>A (p.Arg764Gln)	DHX9 (R764Q)	Single nucleotide variant (missense variant +1 more)	DHX9-related neurodevelopmental disorder	GLikely pathogenic

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