ClinVar for MedGen (Select 382217) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16568981.	NM_153240.5(NPHP3):c.3201+11A>G GRCh37: Chr3:132405984 GRCh38: Chr3:132687140	NPHP3, NPHP3-ACAD11		Nephronophthisis, NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3	Likely benign (May 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16248032.	NM_153240.5(NPHP3):c.237G>A (p.Ser79=) GRCh37: Chr3:132440963 GRCh38: Chr3:132722119	NPHP3, NPHP3-AS1, NPHP3-ACAD11		Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3, NPHP3-related Meckel-like syndrome, Nephronophthisis	Likely benign (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16243993.	NM_153240.5(NPHP3):c.3812+16A>G GRCh37: Chr3:132401531 GRCh38: Chr3:132682687	NPHP3-ACAD11, NPHP3		Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3, NPHP3-related Meckel-like syndrome	Likely benign (Aug 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16197874.	NM_153240.5(NPHP3):c.1245T>G (p.Val415=) GRCh37: Chr3:132426975 GRCh38: Chr3:132708131	NPHP3, NPHP3-ACAD11		NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3, Nephronophthisis	Likely benign (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16065665.	NM_153240.5(NPHP3):c.3399C>T (p.Asp1133=) GRCh37: Chr3:132403569 GRCh38: Chr3:132684725	NPHP3-ACAD11, NPHP3		Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3, NPHP3-related Meckel-like syndrome, Nephronophthisis	Likely benign (Mar 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15885646.	NM_153240.5(NPHP3):c.2883+16C>T GRCh37: Chr3:132407902 GRCh38: Chr3:132689058	NPHP3-ACAD11, NPHP3		Nephronophthisis, Nephronophthisis 3, NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1	Likely benign (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15694317.	NM_153240.5(NPHP3):c.3696+20C>T GRCh37: Chr3:132402223 GRCh38: Chr3:132683379	NPHP3, NPHP3-ACAD11		Nephronophthisis, NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3	Likely benign (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15639678.	NM_153240.5(NPHP3):c.3126-17T>G GRCh37: Chr3:132406087 GRCh38: Chr3:132687243	NPHP3, NPHP3-ACAD11		Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3, NPHP3-related Meckel-like syndrome, Nephronophthisis	Likely benign (Sep 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15561589.	NM_153240.5(NPHP3):c.671-14C>A GRCh37: Chr3:132435767 GRCh38: Chr3:132716923	NPHP3, NPHP3-ACAD11		Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3, NPHP3-related Meckel-like syndrome, Nephronophthisis	Likely benign (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 154708110.	NM_153240.5(NPHP3):c.1068A>G (p.Glu356=) GRCh37: Chr3:132432020 GRCh38: Chr3:132713176	NPHP3, NPHP3-ACAD11		Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3, NPHP3-related Meckel-like syndrome	Likely benign (Feb 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 154678511.	NM_153240.5(NPHP3):c.2884-4C>A GRCh37: Chr3:132407739 GRCh38: Chr3:132688895	NPHP3, NPHP3-ACAD11		Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3, NPHP3-related Meckel-like syndrome, Nephronophthisis	Likely benign (Sep 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 153389112.	NM_153240.5(NPHP3):c.1887+17del GRCh37: Chr3:132418745 GRCh38: Chr3:132699901	NPHP3, NPHP3-ACAD11		Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome, Nephronophthisis 3	Likely benign (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151583713.	NM_153240.5(NPHP3):c.2995A>C (p.Lys999Gln) GRCh37: Chr3:132407624 GRCh38: Chr3:132688780	NPHP3, NPHP3-ACAD11	K999Q	NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3, Nephronophthisis	Uncertain significance (Oct 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 151293514.	NM_153240.5(NPHP3):c.3898G>A (p.Gly1300Arg) GRCh37: Chr3:132400849 GRCh38: Chr3:132682005	NPHP3, NPHP3-ACAD11	G1300R	Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3, NPHP3-related Meckel-like syndrome	Uncertain significance (Oct 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 150005015.	NM_153240.5(NPHP3):c.155C>T (p.Ala52Val) GRCh37: Chr3:132441045 GRCh38: Chr3:132722201	NPHP3-AS1, NPHP3, NPHP3-ACAD11	A52V	Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome, Nephronophthisis 3, Nephronophthisis	Uncertain significance (Mar 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 149709316.	NM_153240.5(NPHP3):c.3290A>G (p.Asn1097Ser) GRCh37: Chr3:132405143 GRCh38: Chr3:132686299	NPHP3, NPHP3-ACAD11	N1097S	Inborn genetic diseases, Nephronophthisis, NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3	Uncertain significance (May 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 148369017.	NM_153240.5(NPHP3):c.2302A>T (p.Met768Leu) GRCh37: Chr3:132413679 GRCh38: Chr3:132694835	NPHP3, NPHP3-ACAD11	M768L	Nephronophthisis 3, NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis	Uncertain significance (Nov 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 145464018.	NM_153240.5(NPHP3):c.3775C>T (p.Arg1259Ter) GRCh37: Chr3:132401584 GRCh38: Chr3:132682740	NPHP3, NPHP3-ACAD11	R1259*	Nephronophthisis 3, Nephronophthisis 3, NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis	Pathogenic/Likely pathogenic (Mar 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145463619.	NM_153240.5(NPHP3):c.469del (p.Arg157fs) GRCh37: Chr3:132438599 GRCh38: Chr3:132719755	NPHP3, NPHP3-ACAD11	R157fs	Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome, Nephronophthisis 3	Pathogenic (Jan 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144708720.	NM_153240.5(NPHP3):c.3537G>A (p.Thr1179=) GRCh37: Chr3:132403431 GRCh38: Chr3:132684587	NPHP3, NPHP3-ACAD11		Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3, NPHP3-related Meckel-like syndrome, Nephronophthisis	Uncertain significance (Apr 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142137421.	NM_153240.5(NPHP3):c.224A>G (p.Lys75Arg) GRCh37: Chr3:132440976 GRCh38: Chr3:132722132	NPHP3, NPHP3-ACAD11, NPHP3-AS1	K75R	Nephronophthisis, Nephronophthisis 3, Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141812522.	NM_153240.5(NPHP3):c.958G>T (p.Asp320Tyr) GRCh37: Chr3:132432130 GRCh38: Chr3:132713286	NPHP3, NPHP3-ACAD11	D320Y	Nephronophthisis, NPHP3-related Meckel-like syndrome, Nephronophthisis 3, Renal-hepatic-pancreatic dysplasia 1	Uncertain significance (Sep 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 141749923.	NM_153240.5(NPHP3):c.2170C>T (p.Arg724Cys) GRCh37: Chr3:132415576 GRCh38: Chr3:132696732	NPHP3, NPHP3-ACAD11	R724C	Nephronophthisis, NPHP3-related Meckel-like syndrome, Nephronophthisis 3, Renal-hepatic-pancreatic dysplasia 1	Uncertain significance (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140855524.	NM_153240.5(NPHP3):c.1dup (p.Met1fs) GRCh37: Chr3:132441198-132441199 GRCh38: Chr3:132722354-132722355	NPHP3, NPHP3-ACAD11, NPHP3-AS1	M1fs	NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3, Nephronophthisis	Uncertain significance (Mar 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140498825.	NM_153240.5(NPHP3):c.2263A>G (p.Ile755Val) GRCh37: Chr3:132413718 GRCh38: Chr3:132694874	NPHP3-ACAD11, NPHP3	I755V	Nephronophthisis, NPHP3-related Meckel-like syndrome, Nephronophthisis 3, Renal-hepatic-pancreatic dysplasia 1	Uncertain significance (Mar 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140372626.	NM_153240.5(NPHP3):c.3433T>C (p.Cys1145Arg) GRCh37: Chr3:132403535 GRCh38: Chr3:132684691	NPHP3, NPHP3-ACAD11	C1145R	Nephronophthisis, NPHP3-related Meckel-like syndrome, Nephronophthisis 3, Renal-hepatic-pancreatic dysplasia 1	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139818927.	NM_153240.5(NPHP3):c.185G>A (p.Arg62His) GRCh37: Chr3:132441015 GRCh38: Chr3:132722171	NPHP3, NPHP3-ACAD11, NPHP3-AS1	R62H	Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3, NPHP3-related Meckel-like syndrome	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138622228.	NM_153240.5(NPHP3):c.76G>A (p.Glu26Lys) GRCh37: Chr3:132441124 GRCh38: Chr3:132722280	NPHP3, NPHP3-ACAD11, NPHP3-AS1	E26K	Nephronophthisis 3, Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome, Nephronophthisis	Uncertain significance (Dec 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 137750529.	NM_153240.5(NPHP3):c.3039A>C (p.Glu1013Asp) GRCh37: Chr3:132407580 GRCh38: Chr3:132688736	NPHP3, NPHP3-ACAD11	E1013D	Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3, NPHP3-related Meckel-like syndrome	Uncertain significance (Jul 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134997230.	NM_153240.5(NPHP3):c.2311A>G (p.Ile771Val) GRCh37: Chr3:132411662 GRCh38: Chr3:132692818	NPHP3, NPHP3-ACAD11	I771V	Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3, NPHP3-related Meckel-like syndrome, Nephronophthisis	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134716531.	NM_153240.5(NPHP3):c.2171+1G>A GRCh37: Chr3:132415574 GRCh38: Chr3:132696730	NPHP3, NPHP3-ACAD11		Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3, NPHP3-related Meckel-like syndrome	Likely pathogenic (Apr 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134151532.	NM_153240.5(NPHP3):c.1220_1221del (p.Ser407fs) GRCh37: Chr3:132426999-132427000 GRCh38: Chr3:132708155-132708156	NPHP3, NPHP3-ACAD11	S407fs	NPHP3-related Meckel-like syndrome	Likely pathogenic (Feb 14, 2022)	criteria provided, single submitter
Select item 118389033.	NM_153240.5(NPHP3):c.3205G>A (p.Gly1069Arg) GRCh37: Chr3:132405228 GRCh38: Chr3:132686384	NPHP3-ACAD11, NPHP3	G1069R	Nephronophthisis, Nephronophthisis 3, NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1, not provided	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116413334.	NM_153240.5(NPHP3):c.3813-10T>C GRCh37: Chr3:132400944 GRCh38: Chr3:132682100	NPHP3, NPHP3-ACAD11		NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3, Nephronophthisis	Benign/Likely benign (Jun 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116070435.	NM_153240.5(NPHP3):c.3126-4T>A GRCh37: Chr3:132406074 GRCh38: Chr3:132687230	NPHP3, NPHP3-ACAD11		Nephronophthisis, Nephronophthisis 3, NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1	Likely benign (Mar 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 114086036.	NM_153240.5(NPHP3):c.2395T>C (p.Leu799=) GRCh37: Chr3:132411578 GRCh38: Chr3:132692734	NPHP3, NPHP3-ACAD11		Nephronophthisis, NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3	Likely benign (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 113763337.	NM_153240.5(NPHP3):c.1308A>G (p.Gly436=) GRCh37: Chr3:132424626 GRCh38: Chr3:132705782	NPHP3, NPHP3-ACAD11		Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome, Nephronophthisis 3	Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 110490938.	NM_153240.5(NPHP3):c.3816T>C (p.Tyr1272=) GRCh37: Chr3:132400931 GRCh38: Chr3:132682087	NPHP3, NPHP3-ACAD11		Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3, NPHP3-related Meckel-like syndrome	Likely benign (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 108803539.	NM_153240.5(NPHP3):c.2884-8C>T GRCh37: Chr3:132407743 GRCh38: Chr3:132688899	NPHP3-ACAD11, NPHP3		NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3, Nephronophthisis	Likely benign (Aug 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 108147440.	NM_153240.5(NPHP3):c.2259C>T (p.His753=) GRCh37: Chr3:132413722 GRCh38: Chr3:132694878	NPHP3, NPHP3-ACAD11		Nephronophthisis, Nephronophthisis 3, NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1	Likely benign (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107852041.	NM_153240.5(NPHP3):c.1404G>A (p.Glu468=) GRCh37: Chr3:132423162 GRCh38: Chr3:132704318	NPHP3, NPHP3-ACAD11		Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome, Nephronophthisis 3	Likely benign (Feb 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107701742.	NM_153240.5(NPHP3):c.3757C>G (p.Leu1253Val) GRCh37: Chr3:132401602 GRCh38: Chr3:132682758	NPHP3-ACAD11, NPHP3	L1253V	Nephronophthisis 3, NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3	Likely pathogenic (Dec 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 105738943.	NM_153240.5(NPHP3):c.161G>A (p.Gly54Glu) GRCh37: Chr3:132441039 GRCh38: Chr3:132722195	NPHP3, NPHP3-AS1, NPHP3-ACAD11	G54E	Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome, Nephronophthisis 3, Nephronophthisis	Uncertain significance (Mar 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105618144.	NM_153240.5(NPHP3):c.3833A>T (p.Glu1278Val) GRCh37: Chr3:132400914 GRCh38: Chr3:132682070	NPHP3, NPHP3-ACAD11	E1278V	Nephronophthisis, Nephronophthisis 3, NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105565445.	NM_153240.5(NPHP3):c.1028T>C (p.Ile343Thr) GRCh37: Chr3:132432060 GRCh38: Chr3:132713216	NPHP3, NPHP3-ACAD11	I343T	Nephronophthisis, Nephronophthisis 3, NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1	Uncertain significance (Jul 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105495446.	NM_153240.5(NPHP3):c.2109C>G (p.His703Gln) GRCh37: Chr3:132415637 GRCh38: Chr3:132696793	NPHP3, NPHP3-ACAD11	H703Q	Nephronophthisis 3, NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis	Uncertain significance (Jun 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104654047.	NM_153240.5(NPHP3):c.346G>A (p.Glu116Lys) GRCh37: Chr3:132440854 GRCh38: Chr3:132722010	NPHP3, NPHP3-ACAD11, NPHP3-AS1	E116K	Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3, NPHP3-related Meckel-like syndrome	Uncertain significance (Nov 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 104621648.	NM_153240.5(NPHP3):c.1476A>T (p.Glu492Asp) GRCh37: Chr3:132423090 GRCh38: Chr3:132704246	NPHP3, NPHP3-ACAD11	E492D	Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3, NPHP3-related Meckel-like syndrome	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104613749.	NM_153240.5(NPHP3):c.3374G>A (p.Arg1125Gln) GRCh37: Chr3:132403594 GRCh38: Chr3:132684750	NPHP3, NPHP3-ACAD11	R1125Q	Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3, NPHP3-related Meckel-like syndrome	Uncertain significance (Feb 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104505650.	NM_153240.5(NPHP3):c.856C>G (p.Gln286Glu) GRCh37: Chr3:132434030 GRCh38: Chr3:132715186	NPHP3, NPHP3-ACAD11	Q286E	Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3, NPHP3-related Meckel-like syndrome	Uncertain significance (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103997851.	NM_153240.5(NPHP3):c.1322A>G (p.Tyr441Cys) GRCh37: Chr3:132424612 GRCh38: Chr3:132705768	NPHP3, NPHP3-ACAD11	Y441C	NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3, Nephronophthisis	Uncertain significance (Feb 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103775852.	NM_153240.5(NPHP3):c.3521C>T (p.Pro1174Leu) GRCh37: Chr3:132403447 GRCh38: Chr3:132684603	NPHP3, NPHP3-ACAD11	P1174L	Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome, Nephronophthisis 3, Nephronophthisis	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103451253.	NM_153240.5(NPHP3):c.209T>C (p.Leu70Pro) GRCh37: Chr3:132440991 GRCh38: Chr3:132722147	NPHP3, NPHP3-ACAD11, NPHP3-AS1	L70P	Nephronophthisis, Nephronophthisis 3, NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102922854.	NM_153240.5(NPHP3):c.2112T>C (p.Cys704=) GRCh37: Chr3:132415634 GRCh38: Chr3:132696790	NPHP3, NPHP3-ACAD11		Nephronophthisis, NPHP3-related Meckel-like syndrome	Conflicting interpretations of pathogenicity (Sep 2, 2022)	criteria provided, conflicting interpretations
Select item 102610855.	NM_153240.5(NPHP3):c.1873A>G (p.Ile625Val) GRCh37: Chr3:132418776 GRCh38: Chr3:132699932	NPHP3, NPHP3-ACAD11	I625V	Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3, NPHP3-related Meckel-like syndrome	Uncertain significance (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100407556.	NM_153240.5(NPHP3):c.3137C>G (p.Ala1046Gly) GRCh37: Chr3:132406059 GRCh38: Chr3:132687215	NPHP3, NPHP3-ACAD11	A1046G	Nephronophthisis, Nephronophthisis 3, NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99958057.	NM_153240.5(NPHP3):c.2497G>C (p.Glu833Gln) GRCh37: Chr3:132410109 GRCh38: Chr3:132691265	NPHP3, NPHP3-ACAD11	E833Q	Inborn genetic diseases, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3, NPHP3-related Meckel-like syndrome, Nephronophthisis	Uncertain significance (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99914258.	NM_153240.5(NPHP3):c.116G>T (p.Arg39Leu) GRCh37: Chr3:132441084 GRCh38: Chr3:132722240	NPHP3, NPHP3-ACAD11, NPHP3-AS1	R39L	Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3, NPHP3-related Meckel-like syndrome, Nephronophthisis	Uncertain significance (Mar 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99893459.	NM_153240.5(NPHP3):c.2936C>T (p.Pro979Leu) GRCh37: Chr3:132407683 GRCh38: Chr3:132688839	NPHP3, NPHP3-ACAD11	P979L	Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3, NPHP3-related Meckel-like syndrome, Nephronophthisis	Uncertain significance (Sep 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 96233960.	NM_153240.5(NPHP3):c.2666T>C (p.Leu889Pro) GRCh37: Chr3:132409399 GRCh38: Chr3:132690555	NPHP3, NPHP3-ACAD11	L889P	Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome, Nephronophthisis 3	Uncertain significance (Jan 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96049261.	NM_153240.5(NPHP3):c.1525T>C (p.Tyr509His) GRCh37: Chr3:132420377 GRCh38: Chr3:132701533	NPHP3, NPHP3-ACAD11	Y509H	Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3, NPHP3-related Meckel-like syndrome, Nephronophthisis	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 95498862.	NM_153240.5(NPHP3):c.2155G>A (p.Gly719Ser) GRCh37: Chr3:132415591 GRCh38: Chr3:132696747	NPHP3, NPHP3-ACAD11	G719S	Nephronophthisis 3, Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome, Nephronophthisis	Uncertain significance (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 95445663.	NM_153240.5(NPHP3):c.1513G>A (p.Gly505Arg) GRCh37: Chr3:132423053 GRCh38: Chr3:132704209	NPHP3, NPHP3-ACAD11	G505R	Nephronophthisis 3, NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis	Uncertain significance (Jan 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 95135964.	NM_153240.5(NPHP3):c.3907C>T (p.Pro1303Ser) GRCh37: Chr3:132400840 GRCh38: Chr3:132681996	NPHP3, NPHP3-ACAD11	P1303S	Nephronophthisis, Nephronophthisis 3, Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome	Uncertain significance (Nov 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 94998465.	NM_153240.5(NPHP3):c.188G>A (p.Gly63Glu) GRCh37: Chr3:132441012 GRCh38: Chr3:132722168	NPHP3-AS1, NPHP3, NPHP3-ACAD11	G63E	not provided, Nephronophthisis, NPHP3-related Meckel-like syndrome, Nephronophthisis 3, Renal-hepatic-pancreatic dysplasia 1	Uncertain significance (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94658166.	NM_153240.5(NPHP3):c.3326T>G (p.Leu1109Arg) GRCh37: Chr3:132405107 GRCh38: Chr3:132686263	NPHP3, NPHP3-ACAD11	L1109R	not provided, Nephronophthisis, NPHP3-related Meckel-like syndrome, Nephronophthisis 3, Renal-hepatic-pancreatic dysplasia 1	Uncertain significance (Jan 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94230067.	NM_153240.5(NPHP3):c.3805G>A (p.Val1269Met) GRCh37: Chr3:132401554 GRCh38: Chr3:132682710	NPHP3, NPHP3-ACAD11	V1269M	Nephronophthisis, NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93839668.	NM_153240.5(NPHP3):c.3722T>C (p.Leu1241Ser) GRCh37: Chr3:132401637 GRCh38: Chr3:132682793	NPHP3, NPHP3-ACAD11	L1241S	Nephronophthisis, Nephronophthisis 3, NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1	Uncertain significance (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93721869.	NM_153240.5(NPHP3):c.236C>T (p.Ser79Leu) GRCh37: Chr3:132440964 GRCh38: Chr3:132722120	NPHP3, NPHP3-ACAD11, NPHP3-AS1	S79L	Nephronophthisis, NPHP3-related Meckel-like syndrome	Uncertain significance (Feb 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93682870.	NM_153240.5(NPHP3):c.2851C>T (p.Arg951Ter) GRCh37: Chr3:132407950 GRCh38: Chr3:132689106	NPHP3, NPHP3-ACAD11	R951*	Nephronophthisis 3, NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis	Pathogenic/Likely pathogenic (Jul 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93396771.	NM_153240.5(NPHP3):c.2222G>A (p.Cys741Tyr) GRCh37: Chr3:132413759 GRCh38: Chr3:132694915	NPHP3, NPHP3-ACAD11	C741Y	Nephronophthisis, Inborn genetic diseases, Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome, Nephronophthisis 3	Uncertain significance (Jun 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93171572.	NM_153240.5(NPHP3):c.1275+3A>T GRCh37: Chr3:132426942 GRCh38: Chr3:132708098	NPHP3, NPHP3-ACAD11		NPHP3-related Meckel-like syndrome	Uncertain significance (Aug 12, 2019)	criteria provided, single submitter
Select item 90361673.	NM_153240.5(NPHP3):c.*141T>C GRCh37: Chr3:132400613 GRCh38: Chr3:132681769	NPHP3, NPHP3-ACAD11		Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3, NPHP3-related Meckel-like syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90361574.	NM_153240.5(NPHP3):c.*178T>G GRCh37: Chr3:132400576 GRCh38: Chr3:132681732	NPHP3, NPHP3-ACAD11		Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome, Nephronophthisis 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90337975.	NM_153240.5(NPHP3):c.*1184A>T GRCh37: Chr3:132399570 GRCh38: Chr3:132680726	NPHP3, NPHP3-ACAD11		NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90337876.	NM_153240.5(NPHP3):c.*1188A>G GRCh37: Chr3:132399566 GRCh38: Chr3:132680722	NPHP3, NPHP3-ACAD11		Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome, Nephronophthisis 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90283177.	NM_153240.5(NPHP3):c.1524+11G>T GRCh37: Chr3:132423031 GRCh38: Chr3:132704187	NPHP3, NPHP3-ACAD11		NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90264478.	NM_153240.5(NPHP3):c.3697-7T>A GRCh37: Chr3:132401669 GRCh38: Chr3:132682825	NPHP3, NPHP3-ACAD11		Nephronophthisis 3, Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome	Uncertain significance (Dec 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90258779.	NM_153240.5(NPHP3):c.*852C>A GRCh37: Chr3:132399902 GRCh38: Chr3:132681058	NPHP3, NPHP3-ACAD11		Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome, Nephronophthisis 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90258680.	NM_153240.5(NPHP3):c.*926C>T GRCh37: Chr3:132399828 GRCh38: Chr3:132680984	NPHP3, NPHP3-ACAD11		Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome, Nephronophthisis 3	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 90199181.	NM_153240.5(NPHP3):c.500A>C (p.Lys167Thr) GRCh37: Chr3:132438568 GRCh38: Chr3:132719724	NPHP3, NPHP3-ACAD11	K167T	Nephronophthisis, NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3	Uncertain significance (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90192682.	NM_153240.5(NPHP3):c.1757C>G (p.Ser586Cys) GRCh37: Chr3:132418892 GRCh38: Chr3:132700048	NPHP3, NPHP3-ACAD11	S586C	NPHP3-related Meckel-like syndrome, Nephronophthisis 3, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3, Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome	Uncertain significance (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90154783.	NM_153240.5(NPHP3):c.*351A>T GRCh37: Chr3:132400403 GRCh38: Chr3:132681559	NPHP3, NPHP3-ACAD11		Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome, Nephronophthisis 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90143084.	NM_153240.5(NPHP3):c.1118+11A>C GRCh37: Chr3:132431959 GRCh38: Chr3:132713115	NPHP3, NPHP3-ACAD11		Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome, Nephronophthisis 3	Conflicting interpretations of pathogenicity (Oct 26, 2020)	criteria provided, conflicting interpretations
Select item 90137585.	NM_153240.5(NPHP3):c.1853T>G (p.Ile618Ser) GRCh37: Chr3:132418796 GRCh38: Chr3:132699952	NPHP3, NPHP3-ACAD11	I618S	Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome, Nephronophthisis 3	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90125786.	NM_153240.5(NPHP3):c.3286C>T (p.Leu1096Phe) GRCh37: Chr3:132405147 GRCh38: Chr3:132686303	NPHP3, NPHP3-ACAD11	L1096F	NPHP3-related Meckel-like syndrome, Nephronophthisis 3, Renal-hepatic-pancreatic dysplasia 1, Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome, Nephronophthisis 3	Uncertain significance (Oct 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90099087.	NM_153240.5(NPHP3):c.*437C>T GRCh37: Chr3:132400317 GRCh38: Chr3:132681473	NPHP3, NPHP3-ACAD11		Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3, NPHP3-related Meckel-like syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90098988.	NM_153240.5(NPHP3):c.*626C>G GRCh37: Chr3:132400128 GRCh38: Chr3:132681284	NPHP3, NPHP3-ACAD11		Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome, Nephronophthisis 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90092389.	NM_153240.5(NPHP3):c.*1094A>G GRCh37: Chr3:132399660 GRCh38: Chr3:132680816	NPHP3, NPHP3-ACAD11		Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3, NPHP3-related Meckel-like syndrome	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 90022090.	NM_153240.5(NPHP3):c.1891G>A (p.Val631Ile) GRCh37: Chr3:132418291 GRCh38: Chr3:132699447	NPHP3, NPHP3-ACAD11	V631I	Nephronophthisis, Nephronophthisis 3, NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1, Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome, Nephronophthisis 3	Uncertain significance (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90021991.	NM_153240.5(NPHP3):c.1976C>T (p.Pro659Leu) GRCh37: Chr3:132418206 GRCh38: Chr3:132699362	NPHP3, NPHP3-ACAD11	P659L	Nephronophthisis, NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3	Uncertain significance (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 86322392.	NM_153240.5(NPHP3):c.1032T>A (p.Asp344Glu) GRCh37: Chr3:132432056 GRCh38: Chr3:132713212	NPHP3-ACAD11, NPHP3	D344E	Nephronophthisis, Nephronophthisis 3, NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1	Uncertain significance (Mar 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85810093.	NM_153240.5(NPHP3):c.146C>T (p.Ala49Val) GRCh37: Chr3:132441054 GRCh38: Chr3:132722210	NPHP3, NPHP3-ACAD11, NPHP3-AS1	A49V	Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3, NPHP3-related Meckel-like syndrome	Uncertain significance (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85096694.	NM_153240.5(NPHP3):c.1857C>G (p.Ile619Met) GRCh37: Chr3:132418792 GRCh38: Chr3:132699948	NPHP3, NPHP3-ACAD11	I619M	Nephronophthisis, Nephronophthisis 3, Renal-hepatic-pancreatic dysplasia 1, NPHP3-related Meckel-like syndrome	Uncertain significance (Nov 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 84960095.	NM_153240.5(NPHP3):c.3649A>C (p.Ser1217Arg) GRCh37: Chr3:132402290 GRCh38: Chr3:132683446	NPHP3, NPHP3-ACAD11	S1217R	Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3, NPHP3-related Meckel-like syndrome, Nephronophthisis	Uncertain significance (Jun 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 84881696.	NM_153240.5(NPHP3):c.958-2A>G GRCh37: Chr3:132432132 GRCh38: Chr3:132713288	NPHP3, NPHP3-ACAD11		not provided, Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3, NPHP3-related Meckel-like syndrome	Pathogenic (Jul 18, 2023)	criteria provided, multiple submitters, no conflicts
Select item 84639797.	NM_153240.5(NPHP3):c.1777A>G (p.Thr593Ala) GRCh37: Chr3:132418872 GRCh38: Chr3:132700028	NPHP3, NPHP3-ACAD11	T593A	Nephronophthisis, NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3, Nephronophthisis 3, NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1	Uncertain significance (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 84502398.	NM_153240.5(NPHP3):c.2263A>C (p.Ile755Leu) GRCh37: Chr3:132413718 GRCh38: Chr3:132694874	NPHP3, NPHP3-ACAD11	I755L	Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1, Nephronophthisis 3, NPHP3-related Meckel-like syndrome	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 83963499.	NM_153240.5(NPHP3):c.1190G>A (p.Arg397His) GRCh37: Chr3:132427030 GRCh38: Chr3:132708186	NPHP3, NPHP3-ACAD11	R397H	not specified, Nephronophthisis, Nephronophthisis 3, NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1	Conflicting interpretations of pathogenicity (Oct 3, 2022)	criteria provided, conflicting interpretations
Select item 836036100.	NM_153240.5(NPHP3):c.2770G>A (p.Asp924Asn) GRCh37: Chr3:132408031 GRCh38: Chr3:132689187	NPHP3, NPHP3-ACAD11	D924N	Nephronophthisis 3, NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1, Inborn genetic diseases, Nephronophthisis	Uncertain significance (Jul 25, 2022)	criteria provided, multiple submitters, no conflicts

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