"Ambry Genetics"[submitter] AND "DPM1"[gene] - ClinVar

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Items: 24

	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 +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 1433475	NM_003859.3(DPM1):c.706T>C (p.Tyr236His)	ADNP-AS1, DPM1 (Y213H +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)	Inborn genetic diseases +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
Select item 650177	NM_003859.3(DPM1):c.385C>T (p.Pro129Ser)	DPM1 (P129S)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E +1 more	GUncertain significance
Select item 572012	NM_003859.3(DPM1):c.385C>A (p.Pro129Thr)	DPM1 (P129T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1980025	NM_003859.3(DPM1):c.382A>G (p.Ile128Val)	DPM1 (I128V)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E +1 more	GUncertain significance
Select item 570864	NM_003859.3(DPM1):c.331_343del (p.Gly111fs)	DPM1 (G111fs)	Deletion (frameshift variant +1 more)	Congenital disorder of glycosylation type 1E +2 more	GPathogenic
Select item 1042957	NM_003859.3(DPM1):c.326C>T (p.Ala109Val)	DPM1 (A109V)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E +1 more	GUncertain significance
Select item 464499	NM_003859.3(DPM1):c.235G>C (p.Glu79Gln)	DPM1 (E79Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3273606	NM_003859.3(DPM1):c.83C>T (p.Ser28Leu)	DPM1, LOC130066166 (S28L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1433017	NM_003859.3(DPM1):c.63T>A (p.Ser21Arg)	DPM1, LOC130066166 (S21R)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E +1 more	GUncertain significance
Select item 464505	NM_003859.3(DPM1):c.59G>T (p.Arg20Leu)	DPM1, LOC130066166 (R20L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2336629	NM_003859.3(DPM1):c.43C>G (p.Arg15Gly)	DPM1, LOC130066166 (R15G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2162882	NM_003859.3(DPM1):c.38C>G (p.Ser13Cys)	DPM1, LOC130066166 (S13C)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E +1 more	GUncertain significance
Select item 3085503	NM_003859.3(DPM1):c.29C>A (p.Pro10His)	DPM1, LOC130066166 (P10H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 856966	NM_003859.3(DPM1):c.22C>G (p.Arg8Gly)	DPM1, LOC130066166 (R8G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 533134	NM_003859.3(DPM1):c.20G>A (p.Ser7Asn)	DPM1, LOC130066166 (S7N)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation type 1E +2 more	GUncertain significance

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Items: 24