ClinVar for MedGen (Select 855697) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24262691.	NC_000012.11:g.(?_94794606)_(94806266_?)del GRCh37: Chr12:94794606-94806266	CEP83		Nephronophthisis 18	Pathogenic (Jul 6, 2022)	criteria provided, single submitter
Select item 24212532.	NM_016122.3(CEP83):c.398G>A (p.Arg133His) GRCh37: Chr12:94796965 GRCh38: Chr12:94403189	CEP83	R133H, R29H	Nephronophthisis 18	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 24205823.	NM_016122.3(CEP83):c.417+16T>C GRCh37: Chr12:94796930 GRCh38: Chr12:94403154	CEP83		Nephronophthisis 18	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 24190084.	NM_016122.3(CEP83):c.1948C>T (p.Gln650Ter) GRCh37: Chr12:94703747 GRCh38: Chr12:94309971	CEP83	Q546, Q575, Q650*	Nephronophthisis 18	Pathogenic (Mar 12, 2022)	criteria provided, single submitter
Select item 21999515.	NM_016122.3(CEP83):c.1617G>A (p.Lys539=) GRCh37: Chr12:94725566 GRCh38: Chr12:94331790	CEP83		Nephronophthisis 18	Likely benign (Apr 22, 2022)	criteria provided, single submitter
Select item 21991296.	NM_016122.3(CEP83):c.933+4A>C GRCh37: Chr12:94769658 GRCh38: Chr12:94375882	CEP83		Nephronophthisis 18	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 21975207.	NM_016122.3(CEP83):c.1394A>C (p.Lys465Thr) GRCh37: Chr12:94729390 GRCh38: Chr12:94335614	CEP83	K361T, K465T, K390T	Nephronophthisis 18	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 21956068.	NM_016122.3(CEP83):c.48T>G (p.Phe16Leu) GRCh37: Chr12:94806219 GRCh38: Chr12:94412443	CEP83	F16L	Nephronophthisis 18	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 21936099.	NM_016122.3(CEP83):c.2036G>A (p.Arg679His) GRCh37: Chr12:94702659 GRCh38: Chr12:94308883	CEP83	R604H, R575H, R679H	Nephronophthisis 18	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 218767010.	NM_016122.3(CEP83):c.1578-17A>G GRCh37: Chr12:94725622 GRCh38: Chr12:94331846	CEP83		Nephronophthisis 18	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 218474311.	NM_016122.3(CEP83):c.1804T>C (p.Leu602=) GRCh37: Chr12:94706697 GRCh38: Chr12:94312921	CEP83		Nephronophthisis 18	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 218472212.	NM_016122.3(CEP83):c.418-8C>T GRCh37: Chr12:94794765 GRCh38: Chr12:94400989	CEP83		Nephronophthisis 18	Likely benign (Apr 10, 2022)	criteria provided, single submitter
Select item 218011813.	NM_016122.3(CEP83):c.216C>T (p.His72=) GRCh37: Chr12:94805581 GRCh38: Chr12:94411805	CEP83		Nephronophthisis 18	Likely benign (Dec 25, 2021)	criteria provided, single submitter
Select item 216769614.	NM_016122.3(CEP83):c.948A>G (p.Lys316=) GRCh37: Chr12:94763798 GRCh38: Chr12:94370022	CEP83		Nephronophthisis 18	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 216711915.	NM_016122.3(CEP83):c.445A>G (p.Asn149Asp) GRCh37: Chr12:94794730 GRCh38: Chr12:94400954	CEP83	N45D, N149D	Nephronophthisis 18	Uncertain significance (Apr 23, 2022)	criteria provided, single submitter
Select item 216434816.	NM_016122.3(CEP83):c.655T>C (p.Tyr219His) GRCh37: Chr12:94772713 GRCh38: Chr12:94378937	CEP83	Y144H, Y115H, Y219H, Y40H	Nephronophthisis 18	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 215901717.	NM_016122.3(CEP83):c.205G>A (p.Glu69Lys) GRCh37: Chr12:94805592 GRCh38: Chr12:94411816	CEP83	E69K	Nephronophthisis 18	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 215866318.	NM_016122.3(CEP83):c.711A>G (p.Glu237=) GRCh37: Chr12:94772657 GRCh38: Chr12:94378881	CEP83		Nephronophthisis 18	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 215833619.	NM_016122.3(CEP83):c.1151AAG[2] (p.Glu386del) GRCh37: Chr12:94761867-94761869 GRCh38: Chr12:94368091-94368093	CEP83	E282del, E311del, E386del	Nephronophthisis 18	Uncertain significance (Jun 7, 2022)	criteria provided, single submitter
Select item 215833420.	NM_016122.3(CEP83):c.1281A>G (p.Glu427=) GRCh37: Chr12:94761632 GRCh38: Chr12:94367856	CEP83		Nephronophthisis 18	Likely benign (Jun 4, 2022)	criteria provided, single submitter
Select item 215127421.	NM_016122.3(CEP83):c.1180T>G (p.Leu394Val) GRCh37: Chr12:94761846 GRCh38: Chr12:94368070	CEP83	L394V, L319V, L290V	Nephronophthisis 18, Inborn genetic diseases	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 214938322.	NM_016122.3(CEP83):c.1343+8A>T GRCh37: Chr12:94761562 GRCh38: Chr12:94367786	CEP83		Nephronophthisis 18	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 214861023.	NM_016122.3(CEP83):c.1770A>G (p.Ala590=) GRCh37: Chr12:94706731 GRCh38: Chr12:94312955	CEP83		Nephronophthisis 18	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 213936924.	NM_016122.3(CEP83):c.2002-18del GRCh37: Chr12:94702711 GRCh38: Chr12:94308935	CEP83		Nephronophthisis 18	Likely benign (Sep 18, 2022)	criteria provided, single submitter
Select item 213322525.	NM_016122.3(CEP83):c.1446G>A (p.Val482=) GRCh37: Chr12:94727389 GRCh38: Chr12:94333613	CEP83		Nephronophthisis 18	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 212824826.	NM_016122.3(CEP83):c.903T>G (p.Ala301=) GRCh37: Chr12:94769692 GRCh38: Chr12:94375916	CEP83		Nephronophthisis 18	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 212640327.	NM_016122.3(CEP83):c.1645A>G (p.Arg549Gly) GRCh37: Chr12:94725538 GRCh38: Chr12:94331762	CEP83	R445G, R474G, R549G	Nephronophthisis 18	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 212547628.	NM_016122.3(CEP83):c.1193+10T>C GRCh37: Chr12:94761823 GRCh38: Chr12:94368047	CEP83		Nephronophthisis 18	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 212342129.	NM_016122.3(CEP83):c.490C>G (p.His164Asp) GRCh37: Chr12:94794685 GRCh38: Chr12:94400909	CEP83	H164D, H60D	Nephronophthisis 18	Uncertain significance (Feb 11, 2022)	criteria provided, single submitter
Select item 212210830.	NM_016122.3(CEP83):c.1177G>A (p.Val393Ile) GRCh37: Chr12:94761849 GRCh38: Chr12:94368073	CEP83	V318I, V289I, V393I	Nephronophthisis 18	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 211940931.	NM_016122.3(CEP83):c.174-8A>C GRCh37: Chr12:94805631 GRCh38: Chr12:94411855	CEP83		Nephronophthisis 18	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 211771632.	NM_016122.3(CEP83):c.549+14T>C GRCh37: Chr12:94794612 GRCh38: Chr12:94400836	CEP83		Nephronophthisis 18	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 211543133.	NM_016122.3(CEP83):c.1812-9_1812-5del GRCh37: Chr12:94703888-94703892 GRCh38: Chr12:94310112-94310116	CEP83		Nephronophthisis 18	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 211534434.	NM_016122.3(CEP83):c.507T>C (p.Tyr169=) GRCh37: Chr12:94794668 GRCh38: Chr12:94400892	CEP83		Nephronophthisis 18	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 211515135.	NM_016122.3(CEP83):c.2066A>G (p.Gln689Arg) GRCh37: Chr12:94702629 GRCh38: Chr12:94308853	CEP83	Q689R, Q585R, Q614R	Nephronophthisis 18	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 211321636.	NM_016122.3(CEP83):c.1577+13C>T GRCh37: Chr12:94727245 GRCh38: Chr12:94333469	CEP83		Nephronophthisis 18	Likely benign (Mar 17, 2022)	criteria provided, single submitter
Select item 211179137.	NM_016122.3(CEP83):c.404G>C (p.Arg135Thr) GRCh37: Chr12:94796959 GRCh38: Chr12:94403183	CEP83	R135T, R31T	Nephronophthisis 18	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 210574038.	NM_016122.3(CEP83):c.933+19_933+20del GRCh37: Chr12:94769642-94769643 GRCh38: Chr12:94375866-94375867	CEP83		Nephronophthisis 18	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 210171439.	NM_016122.3(CEP83):c.802-7A>G GRCh37: Chr12:94769800 GRCh38: Chr12:94376024	CEP83		Nephronophthisis 18	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 209791340.	NM_016122.3(CEP83):c.2028T>C (p.Ser676=) GRCh37: Chr12:94702667 GRCh38: Chr12:94308891	CEP83		Nephronophthisis 18	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 209745441.	NM_016122.3(CEP83):c.1112A>C (p.Glu371Ala) GRCh37: Chr12:94761914 GRCh38: Chr12:94368138	CEP83	E296A, E267A, E371A	Nephronophthisis 18	Uncertain significance (Feb 13, 2022)	criteria provided, single submitter
Select item 209744842.	NM_016122.3(CEP83):c.1419+13C>T GRCh37: Chr12:94729352 GRCh38: Chr12:94335576	CEP83		Nephronophthisis 18	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 209503043.	NM_016122.3(CEP83):c.1945T>C (p.Phe649Leu) GRCh37: Chr12:94703750 GRCh38: Chr12:94309974	CEP83	F545L, F649L, F574L	Nephronophthisis 18	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 209144444.	NM_016122.3(CEP83):c.1064A>T (p.Asn355Ile) GRCh37: Chr12:94761962 GRCh38: Chr12:94368186	CEP83	N251I, N280I, N355I	Nephronophthisis 18	Uncertain significance (Feb 1, 2022)	criteria provided, single submitter
Select item 208967045.	NM_016122.3(CEP83):c.324+8A>G GRCh37: Chr12:94805465 GRCh38: Chr12:94411689	CEP83		Nephronophthisis 18	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 208807146.	NM_016122.3(CEP83):c.1414A>C (p.Lys472Gln) GRCh37: Chr12:94729370 GRCh38: Chr12:94335594	CEP83	K368Q, K397Q, K472Q	Nephronophthisis 18	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 208217947.	NM_016122.3(CEP83):c.1707+15T>C GRCh37: Chr12:94725461 GRCh38: Chr12:94331685	CEP83		Nephronophthisis 18	Likely benign (Oct 1, 2022)	criteria provided, single submitter
Select item 208205048.	NM_016122.3(CEP83):c.1973T>G (p.Met658Arg) GRCh37: Chr12:94703722 GRCh38: Chr12:94309946	CEP83	M554R, M658R, M583R	Nephronophthisis 18	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 207582749.	NM_016122.3(CEP83):c.369A>G (p.Gln123=) GRCh37: Chr12:94796994 GRCh38: Chr12:94403218	CEP83		Nephronophthisis 18	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 207556250.	NM_016122.3(CEP83):c.1930A>G (p.Ile644Val) GRCh37: Chr12:94703765 GRCh38: Chr12:94309989	CEP83	I644V, I540V, I569V	Nephronophthisis 18	Uncertain significance (May 13, 2022)	criteria provided, single submitter
Select item 207526451.	NM_016122.3(CEP83):c.325-7A>G GRCh37: Chr12:94797045 GRCh38: Chr12:94403269	CEP83		Nephronophthisis 18	Likely benign (Aug 11, 2022)	criteria provided, single submitter
Select item 207420852.	NM_016122.3(CEP83):c.1413A>G (p.Leu471=) GRCh37: Chr12:94729371 GRCh38: Chr12:94335595	CEP83		Nephronophthisis 18	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 206746853.	NM_016122.3(CEP83):c.173+18A>G GRCh37: Chr12:94806076 GRCh38: Chr12:94412300	CEP83		Nephronophthisis 18	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 206591054.	NM_016122.3(CEP83):c.343T>C (p.Leu115=) GRCh37: Chr12:94797020 GRCh38: Chr12:94403244	CEP83		Nephronophthisis 18	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 206250355.	NM_016122.3(CEP83):c.414T>C (p.Asp138=) GRCh37: Chr12:94796949 GRCh38: Chr12:94403173	CEP83		Nephronophthisis 18	Likely benign (May 6, 2022)	criteria provided, single submitter
Select item 205682956.	NM_016122.3(CEP83):c.565G>A (p.Glu189Lys) GRCh37: Chr12:94772803 GRCh38: Chr12:94379027	CEP83	E189K, E10K, E114K, E85K	Nephronophthisis 18	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 205141457.	NM_016122.3(CEP83):c.1343+12A>G GRCh37: Chr12:94761558 GRCh38: Chr12:94367782	CEP83		Nephronophthisis 18	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 204965058.	NM_016122.3(CEP83):c.508G>A (p.Ala170Thr) GRCh37: Chr12:94794667 GRCh38: Chr12:94400891	CEP83	A66T, A170T	Nephronophthisis 18	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 204378259.	NM_016122.3(CEP83):c.428A>C (p.Lys143Thr) GRCh37: Chr12:94794747 GRCh38: Chr12:94400971	CEP83	K39T, K143T	Nephronophthisis 18	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 204332660.	NM_016122.3(CEP83):c.1693A>G (p.Ile565Val) GRCh37: Chr12:94725490 GRCh38: Chr12:94331714	CEP83	I461V, I490V, I565V	Nephronophthisis 18	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 204050061.	NM_016122.3(CEP83):c.1048+17C>T GRCh37: Chr12:94763681 GRCh38: Chr12:94369905	CEP83		Nephronophthisis 18	Likely benign (Jun 4, 2022)	criteria provided, single submitter
Select item 203917662.	NM_016122.3(CEP83):c.1126T>C (p.Leu376=) GRCh37: Chr12:94761900 GRCh38: Chr12:94368124	CEP83		Nephronophthisis 18	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 203799763.	NM_016122.3(CEP83):c.1160G>A (p.Gly387Asp) GRCh37: Chr12:94761866 GRCh38: Chr12:94368090	CEP83	G387D, G312D, G283D	Nephronophthisis 18	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 203794864.	NM_016122.3(CEP83):c.933+18T>G GRCh37: Chr12:94769644 GRCh38: Chr12:94375868	CEP83		Nephronophthisis 18	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 203720465.	NM_016122.3(CEP83):c.1298C>T (p.Ser433Leu) GRCh37: Chr12:94761615 GRCh38: Chr12:94367839	CEP83	S329L, S358L, S433L	Nephronophthisis 18	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 203467666.	NM_016122.3(CEP83):c.1449T>A (p.Thr483=) GRCh37: Chr12:94727386 GRCh38: Chr12:94333610	CEP83		Nephronophthisis 18	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 203258767.	NM_016122.3(CEP83):c.1327G>T (p.Glu443Ter) GRCh37: Chr12:94761586 GRCh38: Chr12:94367810	CEP83	E443, E339, E368*	Nephronophthisis 18	Pathogenic (Sep 25, 2022)	criteria provided, single submitter
Select item 202996268.	NM_016122.3(CEP83):c.1980A>T (p.Leu660=) GRCh37: Chr12:94703715 GRCh38: Chr12:94309939	CEP83		Nephronophthisis 18	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 201783169.	NM_016122.3(CEP83):c.1578-3C>T GRCh37: Chr12:94725608 GRCh38: Chr12:94331832	CEP83		Nephronophthisis 18	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 201560470.	NM_016122.3(CEP83):c.1962G>A (p.Met654Ile) GRCh37: Chr12:94703733 GRCh38: Chr12:94309957	CEP83	M579I, M550I, M654I	Nephronophthisis 18	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 200470271.	NM_016122.3(CEP83):c.1988C>T (p.Pro663Leu) GRCh37: Chr12:94703707 GRCh38: Chr12:94309931	CEP83	P559L, P588L, P663L	Nephronophthisis 18	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 200314872.	NM_016122.3(CEP83):c.1036A>G (p.Ser346Gly) GRCh37: Chr12:94763710 GRCh38: Chr12:94369934	CEP83	S271G, S167G, S242G, S346G	Nephronophthisis 18	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 200311773.	NM_016122.3(CEP83):c.246A>G (p.Glu82=) GRCh37: Chr12:94805551 GRCh38: Chr12:94411775	CEP83		Nephronophthisis 18	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 199782574.	NM_016122.3(CEP83):c.1320C>T (p.Thr440=) GRCh37: Chr12:94761593 GRCh38: Chr12:94367817	CEP83		Nephronophthisis 18	Likely benign (Jun 2, 2022)	criteria provided, single submitter
Select item 198927575.	NM_016122.3(CEP83):c.1514G>A (p.Arg505Lys) GRCh37: Chr12:94727321 GRCh38: Chr12:94333545	CEP83	R401K, R430K, R505K	Nephronophthisis 18	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 198836676.	NM_016122.3(CEP83):c.802-13G>T GRCh37: Chr12:94769806 GRCh38: Chr12:94376030	CEP83		Nephronophthisis 18	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 198611077.	NM_016122.3(CEP83):c.1661A>G (p.Asn554Ser) GRCh37: Chr12:94725522 GRCh38: Chr12:94331746	CEP83	N554S, N479S, N450S	Nephronophthisis 18	Uncertain significance (Feb 17, 2022)	criteria provided, single submitter
Select item 197797978.	NM_016122.3(CEP83):c.801+16C>T GRCh37: Chr12:94772551 GRCh38: Chr12:94378775	CEP83		Nephronophthisis 18	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 197592279.	NM_016122.3(CEP83):c.286G>T (p.Val96Leu) GRCh37: Chr12:94805511 GRCh38: Chr12:94411735	CEP83	V96L	Nephronophthisis 18	Uncertain significance (Jan 25, 2022)	criteria provided, single submitter
Select item 197592180.	NM_016122.3(CEP83):c.288A>T (p.Val96=) GRCh37: Chr12:94805509 GRCh38: Chr12:94411733	CEP83		Nephronophthisis 18	Likely benign (Jan 25, 2022)	criteria provided, single submitter
Select item 197305581.	NM_016122.3(CEP83):c.418-15G>A GRCh37: Chr12:94794772 GRCh38: Chr12:94400996	CEP83		Nephronophthisis 18	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 196874482.	NM_016122.3(CEP83):c.1194-15G>T GRCh37: Chr12:94761734 GRCh38: Chr12:94367958	CEP83		Nephronophthisis 18	Likely benign (Oct 1, 2022)	criteria provided, single submitter
Select item 196836583.	NM_016122.3(CEP83):c.933+7T>G GRCh37: Chr12:94769655 GRCh38: Chr12:94375879	CEP83		Nephronophthisis 18	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 195991684.	NM_016122.3(CEP83):c.1243C>A (p.His415Asn) GRCh37: Chr12:94761670 GRCh38: Chr12:94367894	CEP83	H415N, H311N, H340N	Nephronophthisis 18	Uncertain significance (May 11, 2022)	criteria provided, single submitter
Select item 195634785.	NM_016122.3(CEP83):c.895C>A (p.His299Asn) GRCh37: Chr12:94769700 GRCh38: Chr12:94375924	CEP83	H299N, H120N, H195N, H224N	Nephronophthisis 18	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 195608686.	NM_016122.3(CEP83):c.1049G>A (p.Gly350Glu) GRCh37: Chr12:94761977 GRCh38: Chr12:94368201	CEP83	G350E, G246E, G275E	Nephronophthisis 18	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 195568687.	NM_016122.3(CEP83):c.578A>G (p.Glu193Gly) GRCh37: Chr12:94772790 GRCh38: Chr12:94379014	CEP83	E193G, E118G, E14G, E89G	Nephronophthisis 18	Uncertain significance (Feb 17, 2022)	criteria provided, single submitter
Select item 195367788.	NM_016122.3(CEP83):c.1542A>G (p.Arg514=) GRCh37: Chr12:94727293 GRCh38: Chr12:94333517	CEP83		Nephronophthisis 18	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 195030989.	NM_016122.3(CEP83):c.1604G>T (p.Trp535Leu) GRCh37: Chr12:94725579 GRCh38: Chr12:94331803	CEP83	W431L, W460L, W535L	Nephronophthisis 18	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 194379990.	NM_016122.3(CEP83):c.741T>C (p.Asn247=) GRCh37: Chr12:94772627 GRCh38: Chr12:94378851	CEP83		Nephronophthisis 18	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 193968991.	NM_016122.3(CEP83):c.1263T>C (p.Ser421=) GRCh37: Chr12:94761650 GRCh38: Chr12:94367874	CEP83		Nephronophthisis 18	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 193568092.	NM_016122.3(CEP83):c.940G>T (p.Glu314Ter) GRCh37: Chr12:94763806 GRCh38: Chr12:94370030	CEP83	E210, E239, E314, E135	Nephronophthisis 18	Pathogenic (May 7, 2022)	criteria provided, single submitter
Select item 193546593.	NM_016122.3(CEP83):c.417+12A>G GRCh37: Chr12:94796934 GRCh38: Chr12:94403158	CEP83		Nephronophthisis 18	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 193510694.	NM_016122.3(CEP83):c.289G>A (p.Glu97Lys) GRCh37: Chr12:94805508 GRCh38: Chr12:94411732	CEP83	E97K	Nephronophthisis 18	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 191519795.	NM_016122.3(CEP83):c.485T>A (p.Phe162Tyr) GRCh37: Chr12:94794690 GRCh38: Chr12:94400914	CEP83	F58Y, F162Y	Nephronophthisis 18	Uncertain significance (Jan 2, 2022)	criteria provided, single submitter
Select item 189992696.	NM_016122.3(CEP83):c.607C>T (p.Leu203Phe) GRCh37: Chr12:94772761 GRCh38: Chr12:94378985	CEP83	L128F, L203F, L99F, L24F	Nephronophthisis 18	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 171755697.	NM_016122.3(CEP83):c.1915C>G (p.Pro639Ala) GRCh37: Chr12:94703780 GRCh38: Chr12:94310004	CEP83	P535A, P564A, P639A	Nephronophthisis 18	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 171627598.	NM_016122.3(CEP83):c.1987C>A (p.Pro663Thr) GRCh37: Chr12:94703708 GRCh38: Chr12:94309932	CEP83	P559T, P588T, P663T	Nephronophthisis 18	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 171609799.	NM_016122.3(CEP83):c.1022G>C (p.Arg341Thr) GRCh37: Chr12:94763724 GRCh38: Chr12:94369948	CEP83	R162T, R237T, R266T, R341T	Nephronophthisis 18	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 1715767100.	NM_016122.3(CEP83):c.964G>A (p.Glu322Lys) GRCh37: Chr12:94763782 GRCh38: Chr12:94370006	CEP83	E143K, E218K, E247K, E322K	Nephronophthisis 18	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter

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