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

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2234084	NM_015448.3(DPCD):c.53T>C (p.Leu18Pro)	DPCD, LOC130004559 (L18P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2460418	NM_015448.3(DPCD):c.63C>A (p.Asp21Glu)	DPCD, LOC130004559 (D21E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2412036	NM_015448.3(DPCD):c.96C>G (p.Asp32Glu)	DPCD (D32E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2614460	NM_015448.3(DPCD):c.157C>A (p.Arg53Ser)	DPCD (R53S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2299405	NM_015448.3(DPCD):c.266C>G (p.Ala89Gly)	DPCD (A89G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2458215	NM_015448.3(DPCD):c.284G>A (p.Arg95His)	DPCD (R106H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2227125	NM_015448.3(DPCD):c.373C>T (p.Arg125Cys)	DPCD (R136C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2387138	NM_015448.3(DPCD):c.374G>A (p.Arg125His)	DPCD (R125H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance