"Baylor Genetics"[submitter] AND "NPHP3-ACAD11"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1030879	NM_024818.4(UBA5):c.-823C>A	ACAD11, NPHP3-ACAD11 +1 more (E13*)	Single nucleotide variant (5 prime UTR variant +3 more)	Developmental and epileptic encephalopathy, 44	GPathogenic
Select item 265755	NM_024818.6(UBA5):c.169A>G (p.Met57Val)	NPHP3-ACAD11, UBA5 (M57V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 800889	NM_153240.5(NPHP3):c.3406C>T (p.Gln1136Ter)	NPHP3, NPHP3-ACAD11 (Q1136*)	Single nucleotide variant (non-coding transcript variant +1 more)	NPHP3-related Meckel-like syndrome	GPathogenic
Select item 1029228	NM_153240.5(NPHP3):c.2112T>C (p.Cys704=)	NPHP3, NPHP3-ACAD11	Single nucleotide variant (non-coding transcript variant +1 more)	NPHP3-related Meckel-like syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2640	NM_153240.5(NPHP3):c.2104C>T (p.Arg702Ter)	NPHP3, NPHP3-ACAD11 (R702*)	Single nucleotide variant (non-coding transcript variant +1 more)	NPHP3-related Meckel-like syndrome +5 more	GPathogenic
Select item 937218	NM_153240.5(NPHP3):c.236C>T (p.Ser79Leu)	LOC129937586, NPHP3 +2 more (S79L)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +1 more	GUncertain significance

ClinVar