"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "NPHP3"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 262714	NM_153240.5(NPHP3):c.3971T>C (p.Phe1324Ser)	NPHP3-ACAD11, NPHP3 (F1324S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 291194	NM_153240.5(NPHP3):c.3896G>A (p.Gly1299Asp)	NPHP3, NPHP3-ACAD11 (G1299D)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis +4 more	GConflicting classifications of pathogenicity
Select item 219480	NM_153240.5(NPHP3):c.3763C>T (p.Arg1255Trp)	NPHP3, NPHP3-ACAD11 (R1255W)	Single nucleotide variant (non-coding transcript variant +1 more)	NPHP3-related Meckel-like syndrome +5 more	GConflicting classifications of pathogenicity
Select item 262705	NM_153240.5(NPHP3):c.3500G>A (p.Arg1167His)	NPHP3, NPHP3-ACAD11 (R1167H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 195784	NM_153240.5(NPHP3):c.3281G>A (p.Arg1094Gln)	NPHP3, NPHP3-ACAD11 (R1094Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +5 more	GUncertain significance
Select item 499254	NM_153240.5(NPHP3):c.3032C>T (p.Ala1011Val)	NPHP3, NPHP3-ACAD11 (A1011V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +5 more	GUncertain significance
Select item 2682844	NM_153240.5(NPHP3):c.2992T>C (p.Trp998Arg)	NPHP3, NPHP3-ACAD11 (W998R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 954988	NM_153240.5(NPHP3):c.2155G>A (p.Gly719Ser)	NPHP3, NPHP3-ACAD11 (G719S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +6 more	GUncertain significance
Select item 497874	NM_153240.5(NPHP3):c.944A>T (p.Asp315Val)	NPHP3, NPHP3-ACAD11 (D315V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +4 more	GUncertain significance
Select item 2682845	NM_153240.5(NPHP3):c.767C>G (p.Pro256Arg)	NPHP3, NPHP3-ACAD11 (P256R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3379496	NM_153240.5(NPHP3):c.247G>A (p.Glu83Lys)	LOC129937586, NPHP3 +2 more (E83K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1034512	NM_153240.5(NPHP3):c.209T>C (p.Leu70Pro)	LOC129937586, NPHP3 +2 more (L70P)	Single nucleotide variant (non-coding transcript variant +1 more)	Nephronophthisis 3 +4 more	GUncertain significance