"Ambry Genetics"[submitter] AND "ADNP-AS1"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 338750	NM_003859.3(DPM1):c.779C>T (p.Thr260Ile)	ADNP-AS1, DPM1 (T260I +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E +2 more	GUncertain significance
Select item 650050	NM_003859.3(DPM1):c.763A>G (p.Thr255Ala)	ADNP-AS1, DPM1 (T255A +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E +1 more	GUncertain significance
Select item 1430973	NM_003859.3(DPM1):c.647G>A (p.Arg216Gln)	ADNP-AS1, DPM1 (R216Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2268065	NM_003859.3(DPM1):c.646C>T (p.Arg216Trp)	ADNP-AS1, DPM1 (R251W +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 842476	NM_003859.3(DPM1):c.605G>A (p.Cys202Tyr)	ADNP-AS1, DPM1 (C229Y +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E +1 more	GUncertain significance
Select item 3085504	NM_003859.3(DPM1):c.545A>C (p.Asp182Ala)	ADNP-AS1, DPM1 (D209A +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2339784	NM_003859.3(DPM1):c.533C>T (p.Pro178Leu)	ADNP-AS1, DPM1 (P205L +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2460040	NM_003859.3(DPM1):c.482G>T (p.Arg161Ile)	ADNP-AS1, DPM1 (R161I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2296246	NM_003859.3(DPM1):c.474T>A (p.Asp158Glu)	ADNP-AS1, DPM1 (D158E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance