"Ambry Genetics"[submitter] AND "JHY"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3112315	NM_024806.4(JHY):c.736C>T (p.Pro246Ser)	JHY (P246S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112312	NM_024806.4(JHY):c.1687T>C (p.Trp563Arg)	JHY (W525R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3112313	NM_024806.4(JHY):c.2148A>T (p.Glu716Asp)	JHY (E689D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112314	NM_024806.4(JHY):c.2257T>A (p.Ser753Thr)	JHY (S726T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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