C2677590[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 207991	NM_052859.4(RFT1):c.1325G>A (p.Arg442Gln)	RFT1 (R442Q)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GLikely pathogenic
Select item 207990	NM_052859.4(RFT1):c.1222A>G (p.Met408Val)	RFT1 (M408V)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GPathogenic
Select item 207987	NM_052859.4(RFT1):c.892G>A (p.Glu298Lys)	RFT1 (E298K)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GPathogenic
Select item 207989	NM_052859.4(RFT1):c.887T>G (p.Ile296Arg)	RFT1 (I296R)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GPathogenic
Select item 207988	NM_052859.4(RFT1):c.887T>A (p.Ile296Lys)	RFT1 (I296K)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GPathogenic
Select item 207986	NM_052859.4(RFT1):c.454A>G (p.Lys152Glu)	RFT1 (K152E)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation +1 more	GPathogenic/Likely pathogenic
Select item 785	NM_052859.4(RFT1):c.199C>T (p.Arg67Cys)	RFT1 (R67C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic

ClinVar