C2748662[trait identifier] AND "ARUP Laboratories, Molecular Genetics - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 130156	NM_173560.4(RFX6):c.50C>A (p.Ala17Glu)	LOC127407129, RFX6 (A17E)	Single nucleotide variant (missense variant)	Monogenic diabetes +2 more	GBenign
Select item 2921213	NM_173560.4(RFX6):c.335A>G (p.Gln112Arg)	RFX6 (Q112R)	Single nucleotide variant (missense variant)	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome	GUncertain significance
Select item 702079	NM_173560.4(RFX6):c.985G>A (p.Val329Ile)	RFX6 (V329I)	Single nucleotide variant (missense variant)	RFX6-related condition +3 more	GBenign/Likely benign
Select item 130148	NM_173560.4(RFX6):c.1327C>T (p.His443Tyr)	RFX6 (H443Y)	Single nucleotide variant (missense variant)	Monogenic diabetes +3 more	GBenign/Likely benign
Select item 436531	NM_173560.4(RFX6):c.1733G>C (p.Arg578Pro)	LOC126859771, RFX6 (R578P)	Single nucleotide variant (missense variant)	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome +4 more	GConflicting classifications of pathogenicity
Select item 130154	NM_173560.4(RFX6):c.2166C>T (p.Thr722=)	RFX6	Single nucleotide variant (synonymous variant)	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome +1 more	GBenign/Likely benign
Select item 917476	NM_173560.4(RFX6):c.2399G>C (p.Gly800Ala)	RFX6 (G800A)	Single nucleotide variant (missense variant)	Monogenic diabetes +2 more	GBenign/Likely benign

ClinVar