Related gene-specific medical variations for Gene (Select 9704) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1341894	NM_014681.6(DHX34):c.299dup (p.Tyr100Ter)	DHX34 (Y100*)	Duplication (nonsense)	not provided	GUncertain significance
Select item 1325515	NM_014681.6(DHX34):c.2197G>A (p.Gly733Arg)	DHX34 (G733R)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1184334	NM_014681.6(DHX34):c.2184C>G (p.His728Gln)	DHX34 (H728Q)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 996975	NM_014681.6(DHX34):c.2219_2233dup (p.Arg740_Glu744dup)	DHX34	Duplication (inframe_insertion)	See cases	GUncertain significance
Select item 978116	NM_014681.6(DHX34):c.2918C>T (p.Thr973Met)	DHX34 (T973M)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance

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