ClinVar for MedGen (Select 146912) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26273771.	NM_153704.6(TMEM67):c.[1634G>A;2241G>A] GRCh37: Chr8:94805484 Chr8:94811986 GRCh38: Chr8:93793256 Chr8:93799758	TMEM67, TMEM67	G545E, G464E	Joubert syndrome 6	Pathogenic (Jan 1, 2007)	no assertion criteria provided
Select item 25022592.	NM_025114.4(CEP290):c.[943-4C>T;943-8A>T] GRCh37: Chr12:88520219 Chr12:88520223 GRCh38: Chr12:88126442 Chr12:88126446	CEP290, CEP290		Senior-Loken syndrome 6, Joubert syndrome 5, Meckel syndrome, type 4, Leber congenital amaurosis 10	Uncertain significance (Feb 11, 2022)	criteria provided, single submitter
Select item 24981303.	NM_024753.5(TTC21B):c.[2569G>A;3130_3131dup] GRCh37: Chr2:166758420 Chr2:166747120-166747121 GRCh38: Chr2:165901910 Chr2:165890610-165890611	TTC21B, TTC21B	A857T, H1045fs	Asphyxiating thoracic dystrophy 4	Likely pathogenic (Jun 18, 2021)	criteria provided, single submitter
Select item 24284194.	NM_025114.4(CEP290):c.1140G>A (p.Lys380=) GRCh37: Chr12:88519072 GRCh38: Chr12:88125295	CEP290		Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome	Likely benign (Mar 3, 2022)	criteria provided, single submitter
Select item 24281395.	NM_015102.5(NPHP4):c.2316C>T (p.Arg772=) GRCh37: Chr1:5947515 GRCh38: Chr1:5887455	NPHP4		Nephronophthisis	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 24280656.	NM_024753.5(TTC21B):c.2444C>G (p.Ala815Gly) GRCh37: Chr2:166767854 GRCh38: Chr2:165911344	TTC21B	A815G	Jeune thoracic dystrophy, Nephronophthisis	Uncertain significance (Mar 31, 2022)	criteria provided, single submitter
Select item 24274287.	NC_000003.11:g.(?_132410016)_(132411682_?)del GRCh37: Chr3:132410016-132411682	NPHP3		Nephronophthisis	Pathogenic (Jun 13, 2022)	criteria provided, single submitter
Select item 24269148.	NC_000012.11:g.(?_88465051)_(88508979_?)dup GRCh37: Chr12:88465051-88508979	CEP290		Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome	Likely pathogenic (Jul 29, 2022)	criteria provided, single submitter
Select item 24269139.	NC_000012.11:g.(?_88465051)_(88465723_?)del GRCh37: Chr12:88465051-88465723	CEP290		Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome	Pathogenic (Feb 5, 2022)	criteria provided, single submitter
Select item 242691210.	NC_000012.11:g.(?_88452605)_(88494960_?)del GRCh37: Chr12:88452605-88494960	CEP290		Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome	Pathogenic (Aug 9, 2022)	criteria provided, single submitter
Select item 242691111.	NC_000012.11:g.(?_88510800)_(88510932_?)del GRCh37: Chr12:88510800-88510932	CEP290		Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome	Pathogenic (Jul 22, 2022)	criteria provided, single submitter
Select item 242688012.	NC_000002.11:g.(?_166744769)_(166747518_?)del GRCh37: Chr2:166744769-166747518	TTC21B		Jeune thoracic dystrophy, Nephronophthisis	Pathogenic (Feb 17, 2022)	criteria provided, single submitter
Select item 242606513.	NC_000001.10:g.(?_5964657)_(5969293_?)del GRCh37: Chr1:5964657-5969293	NPHP4		Nephronophthisis	Pathogenic (Aug 3, 2022)	criteria provided, single submitter
Select item 242606414.	NC_000001.10:g.(?_5950908)_(5951108_?)del GRCh37: Chr1:5950908-5951108	NPHP4		Nephronophthisis	Pathogenic (Jun 18, 2022)	criteria provided, single submitter
Select item 242595215.	NC_000009.11:g.(?_102988324)_(103062956_?)dup GRCh37: Chr9:102988324-103062956	INVS		Nephronophthisis	Uncertain significance (Feb 6, 2022)	criteria provided, single submitter
Select item 242348416.	NC_000003.11:g.(?_121459590)_(121547499_?)del GRCh37: Chr3:121459590-121547499	GOLGB1, IQCB1		Nephronophthisis	Pathogenic (Apr 26, 2022)	criteria provided, single submitter
Select item 242348317.	NC_000003.11:g.(?_121547297)_(121547807_?)del GRCh37: Chr3:121547297-121547807	IQCB1		Nephronophthisis	Pathogenic (Jun 16, 2022)	criteria provided, single submitter
Select item 242348218.	NC_000003.11:g.(?_121489192)_(121489441_?)del GRCh37: Chr3:121489192-121489441	IQCB1		Nephronophthisis	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 242341519.	NM_024753.5(TTC21B):c.1725_1726del (p.Lys575fs) GRCh37: Chr2:166773940-166773941 GRCh38: Chr2:165917430-165917431	TTC21B	K575fs	Jeune thoracic dystrophy, Nephronophthisis	Pathogenic (Apr 17, 2022)	criteria provided, single submitter
Select item 242122320.	NM_024753.5(TTC21B):c.1449T>C (p.Thr483=) GRCh37: Chr2:166781126 GRCh38: Chr2:165924616	TTC21B		Jeune thoracic dystrophy, Nephronophthisis	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 242120521.	NM_014425.5(INVS):c.342_343del (p.Glu114fs) GRCh37: Chr9:102988409-102988410 GRCh38: Chr9:100226127-100226128	INVS	E114fs, E18fs	Nephronophthisis	Pathogenic (Aug 29, 2022)	criteria provided, single submitter
Select item 242117022.	NM_025114.4(CEP290):c.1712-20G>T GRCh37: Chr12:88510942 GRCh38: Chr12:88117165	CEP290		Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 242116923.	NM_025114.4(CEP290):c.1910-4A>G GRCh37: Chr12:88508343 GRCh38: Chr12:88114566	CEP290		Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome	Likely benign (Feb 5, 2022)	criteria provided, single submitter
Select item 242113924.	NM_024753.5(TTC21B):c.3589G>C (p.Glu1197Gln) GRCh37: Chr2:166740399 GRCh38: Chr2:165883889	TTC21B	E1197Q	Jeune thoracic dystrophy, Nephronophthisis	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 242097025.	NM_153240.5(NPHP3):c.3612T>A (p.Val1204=) GRCh37: Chr3:132402327 GRCh38: Chr3:132683483	NPHP3-ACAD11, NPHP3		Nephronophthisis	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 242092126.	NM_014425.5(INVS):c.796+19C>T GRCh37: Chr9:103002541 GRCh38: Chr9:100240259	INVS		Nephronophthisis	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 242067727.	NM_025114.4(CEP290):c.4619A>G (p.Gln1540Arg) GRCh37: Chr12:88478448 GRCh38: Chr12:88084671	CEP290	Q1540R, Q600R	Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome	Uncertain significance (Feb 25, 2022)	criteria provided, single submitter
Select item 242050328.	NM_001128178.3(NPHP1):c.1994C>T (p.Thr665Ile) GRCh37: Chr2:110881408 GRCh38: Chr2:110123831	NPHP1	T602I, T664I, T665I, T720I, T721I	Nephronophthisis	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 242044629.	NM_025114.4(CEP290):c.1757G>A (p.Gly586Glu) GRCh37: Chr12:88510877 GRCh38: Chr12:88117100	CEP290	G586E	Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome	Uncertain significance (Jun 1, 2022)	criteria provided, single submitter
Select item 242042030.	NM_001128178.3(NPHP1):c.1427G>A (p.Arg476Lys) GRCh37: Chr2:110902072 GRCh38: Chr2:110144495	NPHP1	R413K, R475K, R476K, R531K, R532K	Nephronophthisis	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 241988531.	NM_025114.4(CEP290):c.5943G>A (p.Glu1981=) GRCh37: Chr12:88465139 GRCh38: Chr12:88071362	CEP290		Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 241929432.	NM_024753.5(TTC21B):c.3246C>T (p.Asn1082=) GRCh37: Chr2:166747006 GRCh38: Chr2:165890496	TTC21B		Nephronophthisis, Jeune thoracic dystrophy	Likely benign (Apr 9, 2022)	criteria provided, single submitter
Select item 241899733.	NM_001128178.3(NPHP1):c.522+11T>C GRCh37: Chr2:110927372 GRCh38: Chr2:110169795	NPHP1		Nephronophthisis	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 241888034.	NM_015102.5(NPHP4):c.1733C>T (p.Ala578Val) GRCh37: Chr1:5965722 GRCh38: Chr1:5905662	NPHP4	A578V, A65V, A66V	Nephronophthisis	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 241878235.	NM_025114.4(CEP290):c.5798_5799del (p.Glu1933fs) GRCh37: Chr12:88465614-88465615 GRCh38: Chr12:88071837-88071838	CEP290	E1933fs	Nephronophthisis, Familial aplasia of the vermis, Meckel-Gruber syndrome	Pathogenic (Jan 22, 2022)	criteria provided, single submitter
Select item 241873336.	NM_024753.5(TTC21B):c.737T>C (p.Val246Ala) GRCh37: Chr2:166789541 GRCh38: Chr2:165933031	TTC21B	V246A	Nephronophthisis, Jeune thoracic dystrophy	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 241873037.	NM_015102.5(NPHP4):c.2055G>C (p.Leu685=) GRCh37: Chr1:5964765 GRCh38: Chr1:5904705	NPHP4		Nephronophthisis	Likely benign (Feb 3, 2022)	criteria provided, single submitter
Select item 241851738.	NM_025114.4(CEP290):c.2597A>G (p.Asn866Ser) GRCh37: Chr12:88500672 GRCh38: Chr12:88106895	CEP290	N866S	Meckel-Gruber syndrome, Familial aplasia of the vermis, Nephronophthisis	Uncertain significance (Oct 27, 2022)	criteria provided, single submitter
Select item 241849839.	NM_025114.4(CEP290):c.5967A>T (p.Leu1989Phe) GRCh37: Chr12:88465115 GRCh38: Chr12:88071338	CEP290	L1049F, L1989F	Nephronophthisis, Familial aplasia of the vermis, Meckel-Gruber syndrome	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 241826340.	NM_014425.5(INVS):c.2877A>G (p.Ala959=) GRCh37: Chr9:103059289 GRCh38: Chr9:100297007	INVS		Nephronophthisis	Likely benign (Feb 25, 2022)	criteria provided, single submitter
Select item 241812641.	NM_015102.5(NPHP4):c.890T>A (p.Phe297Tyr) GRCh37: Chr1:6008232 GRCh38: Chr1:5948172	NPHP4	F297Y	Nephronophthisis	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 241802342.	NM_025114.4(CEP290):c.1646G>T (p.Arg549Leu) GRCh37: Chr12:88512325 GRCh38: Chr12:88118548	CEP290	R549L	Meckel-Gruber syndrome, Familial aplasia of the vermis, Nephronophthisis	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 241800843.	NM_001023570.4(IQCB1):c.1567+17C>T GRCh37: Chr3:121491387 GRCh38: Chr3:121772540	IQCB1		Nephronophthisis	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 241798744.	NM_015102.5(NPHP4):c.1489C>A (p.Pro497Thr) GRCh37: Chr1:5969226 GRCh38: Chr1:5909166	NPHP4	P497T	Nephronophthisis	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 241788045.	NM_153240.5(NPHP3):c.3607G>A (p.Ala1203Thr) GRCh37: Chr3:132402332 GRCh38: Chr3:132683488	NPHP3, NPHP3-ACAD11	A1203T	Nephronophthisis	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 241778846.	NM_025114.4(CEP290):c.6819-15dup GRCh37: Chr12:88449508-88449509 GRCh38: Chr12:88055731-88055732	CEP290		Nephronophthisis, Familial aplasia of the vermis, Meckel-Gruber syndrome	Benign (Mar 15, 2022)	criteria provided, single submitter
Select item 241770147.	NM_024753.5(TTC21B):c.410T>C (p.Ile137Thr) GRCh37: Chr2:166802053 GRCh38: Chr2:165945543	TTC21B, TTC21B-AS1	I137T	Nephronophthisis, Jeune thoracic dystrophy	Uncertain significance (Jul 9, 2022)	criteria provided, single submitter
Select item 241744348.	NM_015102.5(NPHP4):c.2622G>A (p.Val874=) GRCh37: Chr1:5937348 GRCh38: Chr1:5877288	NPHP4		Nephronophthisis	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 241740949.	NM_025114.4(CEP290):c.1644A>C (p.Glu548Asp) GRCh37: Chr12:88512327 GRCh38: Chr12:88118550	CEP290	E548D	Familial aplasia of the vermis, Meckel-Gruber syndrome, Nephronophthisis	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 241727050.	NM_025114.4(CEP290):c.5710-9T>C GRCh37: Chr12:88465712 GRCh38: Chr12:88071935	CEP290		Familial aplasia of the vermis, Meckel-Gruber syndrome, Nephronophthisis	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 241714551.	NM_024753.5(TTC21B):c.2635C>T (p.Gln879Ter) GRCh37: Chr2:166758354 GRCh38: Chr2:165901844	TTC21B	Q879*	Jeune thoracic dystrophy, Nephronophthisis	Pathogenic (Jun 1, 2022)	criteria provided, single submitter
Select item 241708052.	NM_024753.5(TTC21B):c.140del (p.Thr47fs) GRCh37: Chr2:166806116 GRCh38: Chr2:165949606	TTC21B	T47fs	Jeune thoracic dystrophy, Nephronophthisis	Pathogenic (Jun 1, 2022)	criteria provided, single submitter
Select item 241702453.	NM_001023570.4(IQCB1):c.394-3A>G GRCh37: Chr3:121527859 GRCh38: Chr3:121809012	IQCB1		Nephronophthisis	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 241688254.	NM_153240.5(NPHP3):c.3571-10del GRCh37: Chr3:132402378 GRCh38: Chr3:132683534	NPHP3, NPHP3-ACAD11		Nephronophthisis	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 241672355.	NM_153240.5(NPHP3):c.1531C>T (p.Gln511Ter) GRCh37: Chr3:132420371 GRCh38: Chr3:132701527	NPHP3, NPHP3-ACAD11	Q511*	Nephronophthisis, Joubert syndrome and related disorders	Pathogenic/Likely pathogenic (Jan 4, 2023)	criteria provided, multiple submitters, no conflicts
Select item 241646956.	NM_025114.4(CEP290):c.3860C>T (p.Ser1287Phe) GRCh37: Chr12:88482978 GRCh38: Chr12:88089201	CEP290	S1287F, S347F	Familial aplasia of the vermis, Meckel-Gruber syndrome, Nephronophthisis	Uncertain significance (Oct 31, 2022)	criteria provided, single submitter
Select item 241645457.	NM_025114.4(CEP290):c.7411G>A (p.Glu2471Lys) GRCh37: Chr12:88442990 GRCh38: Chr12:88049213	CEP290, RLIG1	E1531K, E2471K	Familial aplasia of the vermis, Meckel-Gruber syndrome, Nephronophthisis	Uncertain significance (Jul 9, 2022)	criteria provided, single submitter
Select item 241618558.	NM_025114.4(CEP290):c.850C>G (p.Gln284Glu) GRCh37: Chr12:88523473 GRCh38: Chr12:88129696	CEP290	Q284E	Familial aplasia of the vermis, Meckel-Gruber syndrome, Nephronophthisis	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 241551959.	NM_153240.5(NPHP3):c.1817G>T (p.Trp606Leu) GRCh37: Chr3:132418832 GRCh38: Chr3:132699988	NPHP3, NPHP3-ACAD11	W606L	Nephronophthisis	Uncertain significance (Mar 21, 2022)	criteria provided, single submitter
Select item 241545560.	NM_025114.4(CEP290):c.3081C>T (p.Ala1027=) GRCh37: Chr12:88490687 GRCh38: Chr12:88096910	CEP290		Meckel-Gruber syndrome, Familial aplasia of the vermis, Nephronophthisis	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 241517361.	NM_025114.4(CEP290):c.3103+15T>C GRCh37: Chr12:88490650 GRCh38: Chr12:88096873	CEP290		Nephronophthisis, Meckel-Gruber syndrome, Familial aplasia of the vermis	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 241515962.	NM_025114.4(CEP290):c.5057A>G (p.Glu1686Gly) GRCh37: Chr12:88474128 GRCh38: Chr12:88080351	CEP290	E1686G, E746G	Meckel-Gruber syndrome, Familial aplasia of the vermis, Nephronophthisis	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 241498563.	NM_001128178.3(NPHP1):c.1805A>G (p.His602Arg) GRCh37: Chr2:110881597 GRCh38: Chr2:110124020	NPHP1	H539R, H601R, H602R, H657R, H658R	Nephronophthisis	Uncertain significance (Jun 18, 2022)	criteria provided, single submitter
Select item 241462564.	NM_025114.4(CEP290):c.3398C>T (p.Ala1133Val) GRCh37: Chr12:88486521 GRCh38: Chr12:88092744	CEP290	A1133V, A193V	Nephronophthisis, Meckel-Gruber syndrome, Familial aplasia of the vermis	Uncertain significance (Jun 1, 2022)	criteria provided, single submitter
Select item 241459465.	NM_024753.5(TTC21B):c.3466C>T (p.His1156Tyr) GRCh37: Chr2:166740522 GRCh38: Chr2:165884012	TTC21B	H1156Y	Nephronophthisis, Jeune thoracic dystrophy	Uncertain significance (May 11, 2022)	criteria provided, single submitter
Select item 241448166.	NM_025114.4(CEP290):c.298-16G>T GRCh37: Chr12:88530579 GRCh38: Chr12:88136802	CEP290		Nephronophthisis, Meckel-Gruber syndrome, Familial aplasia of the vermis	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 241405967.	NM_025114.4(CEP290):c.853-2A>T GRCh37: Chr12:88522814 GRCh38: Chr12:88129037	CEP290		Nephronophthisis, Meckel-Gruber syndrome, Familial aplasia of the vermis	Likely pathogenic (Oct 5, 2022)	criteria provided, single submitter
Select item 241376868.	NM_025114.4(CEP290):c.5364+14C>T GRCh37: Chr12:88472855 GRCh38: Chr12:88079078	CEP290		Nephronophthisis, Meckel-Gruber syndrome, Familial aplasia of the vermis	Benign (Sep 13, 2022)	criteria provided, single submitter
Select item 241341569.	NM_025114.4(CEP290):c.1082A>G (p.Asp361Gly) GRCh37: Chr12:88519130 GRCh38: Chr12:88125353	CEP290	D361G	Nephronophthisis, Meckel-Gruber syndrome, Familial aplasia of the vermis	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 220349370.	NM_025114.4(CEP290):c.3951_3977del (p.Thr1318_Lys1326del) GRCh37: Chr12:88482861-88482887 GRCh38: Chr12:88089084-88089110	CEP290		Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 220341071.	NM_001023570.4(IQCB1):c.394-1G>A GRCh37: Chr3:121527857 GRCh38: Chr3:121809010	IQCB1		Nephronophthisis	Likely pathogenic (Jan 31, 2022)	criteria provided, single submitter
Select item 220317072.	NM_024753.5(TTC21B):c.1040A>G (p.Tyr347Cys) GRCh37: Chr2:166786729 GRCh38: Chr2:165930219	TTC21B	Y347C	Jeune thoracic dystrophy, Nephronophthisis	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 220316873.	NM_024753.5(TTC21B):c.1276C>G (p.His426Asp) GRCh37: Chr2:166785755 GRCh38: Chr2:165929245	TTC21B	H426D	Jeune thoracic dystrophy, Nephronophthisis	Uncertain significance (Aug 11, 2022)	criteria provided, single submitter
Select item 220316774.	NM_024753.5(TTC21B):c.2263G>T (p.Asp755Tyr) GRCh37: Chr2:166769083 GRCh38: Chr2:165912573	TTC21B	D755Y	Jeune thoracic dystrophy, Nephronophthisis	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 220313175.	NM_001128178.3(NPHP1):c.84_87del (p.Ser29fs) GRCh37: Chr2:110959054-110959057 GRCh38: Chr2:110201477-110201480	NPHP1	S29fs	Nephronophthisis	Pathogenic (Oct 15, 2022)	criteria provided, single submitter
Select item 220313076.	NM_001128178.3(NPHP1):c.539T>C (p.Leu180Pro) GRCh37: Chr2:110926114 GRCh38: Chr2:110168537	NPHP1	L118P, L180P	Nephronophthisis	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 220294177.	NM_015102.5(NPHP4):c.3196C>T (p.Gln1066Ter) GRCh37: Chr1:5934566 GRCh38: Chr1:5874506	NPHP4	Q1066, Q554, Q553*	Nephronophthisis	Pathogenic (Sep 23, 2022)	criteria provided, single submitter
Select item 220269378.	NM_015102.5(NPHP4):c.3272dup (p.Ser1092fs) GRCh37: Chr1:5933354-5933355 GRCh38: Chr1:5873294-5873295	NPHP4	S580fs, S579fs, S1092fs	Nephronophthisis	Pathogenic (Jul 15, 2022)	criteria provided, single submitter
Select item 220268579.	NM_025114.4(CEP290):c.2099A>G (p.His700Arg) GRCh37: Chr12:88505589 GRCh38: Chr12:88111812	CEP290	H700R	Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome	Uncertain significance (Apr 30, 2022)	criteria provided, single submitter
Select item 220256180.	NM_025114.4(CEP290):c.2750A>C (p.Gln917Pro) GRCh37: Chr12:88500519 GRCh38: Chr12:88106742	CEP290	Q917P	Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome	Uncertain significance (Jan 17, 2022)	criteria provided, single submitter
Select item 220247881.	NM_014425.5(INVS):c.2160C>G (p.Pro720=) GRCh37: Chr9:103054699 GRCh38: Chr9:100292417	INVS		Nephronophthisis	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 220232782.	NM_014425.5(INVS):c.2254G>A (p.Gly752Arg) GRCh37: Chr9:103054793 GRCh38: Chr9:100292511	INVS	G656R, G752R, G426R	Nephronophthisis	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 220202983.	NM_025114.4(CEP290):c.5056G>A (p.Glu1686Lys) GRCh37: Chr12:88474129 GRCh38: Chr12:88080352	CEP290	E746K, E1686K	Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 220191084.	NM_025114.4(CEP290):c.4303-18C>T GRCh37: Chr12:88479968 GRCh38: Chr12:88086191	CEP290		Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 220185585.	NM_015102.5(NPHP4):c.673+7G>A GRCh37: Chr1:6021847 GRCh38: Chr1:5961787	NPHP4		Nephronophthisis	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 220184086.	NM_014425.5(INVS):c.162T>C (p.Tyr54=) GRCh37: Chr9:102888720 GRCh38: Chr9:100126438	INVS		Nephronophthisis	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 220180687.	NM_001128178.3(NPHP1):c.19C>G (p.Arg7Gly) GRCh37: Chr2:110962527 GRCh38: Chr2:110204950	NPHP1	R7G	Nephronophthisis	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 220153488.	NM_015102.5(NPHP4):c.810+11A>T GRCh37: Chr1:6012749 GRCh38: Chr1:5952689	NPHP4		Nephronophthisis	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 220112189.	NM_001023570.4(IQCB1):c.455T>G (p.Leu152Arg) GRCh37: Chr3:121527795 GRCh38: Chr3:121808948	IQCB1	L152R	Nephronophthisis	Uncertain significance (Jan 18, 2022)	criteria provided, single submitter
Select item 220083090.	NM_015102.5(NPHP4):c.992G>C (p.Ser331Thr) GRCh37: Chr1:6008130 GRCh38: Chr1:5948070	NPHP4	S331T	Nephronophthisis	Uncertain significance (Dec 18, 2021)	criteria provided, single submitter
Select item 220049091.	NM_024753.5(TTC21B):c.2671G>A (p.Ala891Thr) GRCh37: Chr2:166758318 GRCh38: Chr2:165901808	TTC21B	A891T	Jeune thoracic dystrophy, Nephronophthisis	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 220048092.	NM_024753.5(TTC21B):c.263-16C>T GRCh37: Chr2:166802216 GRCh38: Chr2:165945706	TTC21B, TTC21B-AS1		Jeune thoracic dystrophy, Nephronophthisis	Likely benign (Jan 13, 2022)	criteria provided, single submitter
Select item 220036993.	NM_025114.4(CEP290):c.6522+12del GRCh37: Chr12:88454595 GRCh38: Chr12:88060818	CEP290		Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome	Benign (May 18, 2022)	criteria provided, single submitter
Select item 220035294.	NM_153240.5(NPHP3):c.1094_1098del (p.Leu365fs) GRCh37: Chr3:132431990-132431994 GRCh38: Chr3:132713146-132713150	NPHP3-ACAD11, NPHP3	L365fs	Nephronophthisis	Pathogenic (Jul 25, 2022)	criteria provided, single submitter
Select item 220012395.	NM_015102.5(NPHP4):c.1503+9A>C GRCh37: Chr1:5969203 GRCh38: Chr1:5909143	NPHP4		Nephronophthisis	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 219995596.	NM_015102.5(NPHP4):c.2767C>T (p.Arg923Cys) GRCh37: Chr1:5937203 GRCh38: Chr1:5877143	NPHP4	R411C, R410C, R923C	Nephronophthisis	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 219955097.	NM_153240.5(NPHP3):c.2119G>A (p.Ala707Thr) GRCh37: Chr3:132415627 GRCh38: Chr3:132696783	NPHP3, NPHP3-ACAD11	A707T	Nephronophthisis	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 219920398.	NM_025114.4(CEP290):c.5299A>G (p.Thr1767Ala) GRCh37: Chr12:88472934 GRCh38: Chr12:88079157	CEP290	T1767A, T827A	Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 219898699.	NM_015102.5(NPHP4):c.343G>A (p.Glu115Lys) GRCh37: Chr1:6029256 GRCh38: Chr1:5969196	NPHP4	E115K	Nephronophthisis	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 2198536100.	NM_025114.4(CEP290):c.6358-17_6358-10del GRCh37: Chr12:88454781-88454788 GRCh38: Chr12:88061004-88061011	CEP290		Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome	Uncertain significance (Feb 10, 2022)	criteria provided, single submitter

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