C4310640[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1032648	NM_014994.3(MAPKBP1):c.97G>C (p.Glu33Gln)	MAPKBP1 (E33Q)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 20	GUncertain significance
Select item 2582421	NM_014994.3(MAPKBP1):c.260A>G (p.Asn87Ser)	MAPKBP1 (N87S)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 20	GUncertain significance
Select item 1032645	NM_014994.3(MAPKBP1):c.1585+15C>T	MAPKBP1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1030172	NM_014994.3(MAPKBP1):c.2230C>T (p.Arg744Cys)	MAPKBP1 (R744C +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 20	GUncertain significance
Select item 1030173	NM_014994.3(MAPKBP1):c.3662C>T (p.Ala1221Val)	MAPKBP1 (A1221V +1 more)	Single nucleotide variant (missense variant +2 more)	Nephronophthisis 20	GUncertain significance
Select item 1032647	NM_014994.3(MAPKBP1):c.3998G>C (p.Ser1333Thr)	MAPKBP1 (S1339T +1 more)	Single nucleotide variant (missense variant +2 more)	Nephronophthisis 20	GUncertain significance

ClinVar