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

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281008	NM_005258.3(GCHFR):c.158C>A (p.Pro53His)	DNAJC17, GCHFR (P53H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099029	NM_005258.3(GCHFR):c.185G>A (p.Arg62His)	DNAJC17, GCHFR (R62H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281009	NM_005258.3(GCHFR):c.196C>T (p.Arg66Cys)	DNAJC17, GCHFR (R66C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266868	NM_005258.3(GCHFR):c.238T>C (p.Cys80Arg)	DNAJC17, GCHFR (C80R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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