"Ambry Genetics"[submitter] AND "LOC130066166"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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)	LOC130066166, DPM1 (S7N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance

ClinVar