ClinVar for MedGen (Select 339002) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26275421.	NM_000278.5(PAX2):c.793-1G>A GRCh37: Chr10:102568866 GRCh38: Chr10:100809109	PAX2		Renal coloboma syndrome	Likely pathogenic	criteria provided, single submitter
Select item 25847922.	NM_000278.5(PAX2):c.188G>A (p.Gly63Asp) GRCh37: Chr10:102509647 GRCh38: Chr10:100749890	PAX2	G63D, G94D	Renal coloboma syndrome	Uncertain significance	criteria provided, single submitter
Select item 25725923.	NM_000278.5(PAX2):c.871G>T (p.Glu291Ter) GRCh37: Chr10:102568945 GRCh38: Chr10:100809188	PAX2	E291, E314, E322*	Renal coloboma syndrome	Likely pathogenic	criteria provided, single submitter
Select item 24443014.	NM_000278.5(PAX2):c.125T>C (p.Val42Ala) GRCh37: Chr10:102509584 GRCh38: Chr10:100749827	PAX2	V42A, V73A	Renal coloboma syndrome	Uncertain significance (Feb 23, 2023)	criteria provided, single submitter
Select item 24248045.	NC_000010.10:g.(?_102283594)_(102510668_?)del GRCh37: Chr10:102283594-102510668	NDUFB8, HIF1AN, PAX2		Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Pathogenic (Oct 4, 2022)	criteria provided, single submitter
Select item 24206366.	NM_000278.5(PAX2):c.797_798inv (p.Asn266Ser) GRCh37: Chr10:102568871-102568872 GRCh38: Chr10:100809114-100809115	PAX2	N266S, N289S, N297S	Focal segmental glomerulosclerosis 7, Renal coloboma syndrome	Uncertain significance (Oct 11, 2022)	criteria provided, single submitter
Select item 21980547.	NM_000278.5(PAX2):c.793-15TC[3] GRCh37: Chr10:102568852-102568853 GRCh38: Chr10:100809095-100809096	PAX2		Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 21947648.	NM_000278.5(PAX2):c.449C>T (p.Thr150Met) GRCh37: Chr10:102539293 GRCh38: Chr10:100779536	PAX2	T150M, T181M	Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 21946339.	NM_000278.5(PAX2):c.273G>C (p.Ala91=) GRCh37: Chr10:102510511 GRCh38: Chr10:100750754	PAX2		Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Likely benign (Apr 25, 2022)	criteria provided, single submitter
Select item 217880310.	NM_000278.5(PAX2):c.858A>G (p.Ala286=) GRCh37: Chr10:102568932 GRCh38: Chr10:100809175	PAX2		Focal segmental glomerulosclerosis 7, Renal coloboma syndrome	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 217835211.	NM_000278.5(PAX2):c.680A>G (p.His227Arg) GRCh37: Chr10:102566250 GRCh38: Chr10:100806493	PAX2	H227R, H250R, H258R	Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 217060712.	NM_000278.5(PAX2):c.686G>A (p.Arg229Gln) GRCh37: Chr10:102566256 GRCh38: Chr10:100806499	PAX2	R252Q, R260Q, R229Q	Focal segmental glomerulosclerosis 7, Renal coloboma syndrome	Uncertain significance (Oct 23, 2022)	criteria provided, single submitter
Select item 216171213.	NM_000278.5(PAX2):c.273G>A (p.Ala91=) GRCh37: Chr10:102510511 GRCh38: Chr10:100750754	PAX2		Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 216098814.	NM_000278.5(PAX2):c.1021+243A>G GRCh37: Chr10:102584749 GRCh38: Chr10:100824992	PAX2		Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Uncertain significance (Sep 8, 2022)	criteria provided, single submitter
Select item 215925115.	NM_000278.5(PAX2):c.102C>T (p.Pro34=) GRCh37: Chr10:102509561 GRCh38: Chr10:100749804	PAX2		Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 215790816.	NM_000278.5(PAX2):c.213-16G>A GRCh37: Chr10:102510435 GRCh38: Chr10:100750678	PAX2		Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 215390117.	NM_000278.5(PAX2):c.432G>T (p.Gln144His) GRCh37: Chr10:102539276 GRCh38: Chr10:100779519	PAX2	Q175H, Q144H	Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 215261718.	NM_000278.5(PAX2):c.350G>A (p.Arg117Gln) GRCh37: Chr10:102510588 GRCh38: Chr10:100750831	PAX2	R117Q, R148Q	Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 215209219.	NM_000278.5(PAX2):c.792+2T>C GRCh37: Chr10:102566364 GRCh38: Chr10:100806607	PAX2		Focal segmental glomerulosclerosis 7, Renal coloboma syndrome	Pathogenic (Apr 12, 2022)	criteria provided, single submitter
Select item 214960620.	NM_000278.5(PAX2):c.1140_1142= (p.Arg380_Gly381=) GRCh37: Chr10:102587331-102587333 GRCh38: Chr10:100827574-100827576	PAX2		Focal segmental glomerulosclerosis 7, Renal coloboma syndrome	Benign (Oct 25, 2022)	criteria provided, single submitter
Select item 214908721.	NM_000278.5(PAX2):c.410+3G>A GRCh37: Chr10:102510651 GRCh38: Chr10:100750894	PAX2		Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 214619822.	NM_000278.5(PAX2):c.461C>T (p.Ala154Val) GRCh37: Chr10:102539305 GRCh38: Chr10:100779548	PAX2	A154V, A185V	Focal segmental glomerulosclerosis 7, Renal coloboma syndrome	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 214110323.	NM_000278.5(PAX2):c.886G>A (p.Val296Met) GRCh37: Chr10:102568960 GRCh38: Chr10:100809203	PAX2	V296M, V319M, V327M	PAX2-related condition, Focal segmental glomerulosclerosis 7, Renal coloboma syndrome	Uncertain significance (Feb 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 214099124.	NM_000278.5(PAX2):c.43+20T>C GRCh37: Chr10:102506080 GRCh38: Chr10:100746323	PAX2		Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 212997925.	NM_000278.5(PAX2):c.242del (p.Gly81fs) GRCh37: Chr10:102510478 GRCh38: Chr10:100750721	PAX2	G112fs, G81fs	Focal segmental glomerulosclerosis 7, Renal coloboma syndrome	Pathogenic (Apr 24, 2022)	criteria provided, single submitter
Select item 212801026.	NM_000278.5(PAX2):c.1001C>A (p.Thr334Asn) GRCh37: Chr10:102584486 GRCh38: Chr10:100824729	PAX2	T365N, T334N, T357N	Focal segmental glomerulosclerosis 7, Renal coloboma syndrome	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 212764327.	NM_000278.5(PAX2):c.793-14del GRCh37: Chr10:102568853 GRCh38: Chr10:100809096	PAX2		Focal segmental glomerulosclerosis 7, Renal coloboma syndrome	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 212761428.	NM_000278.5(PAX2):c.1021+210A>G GRCh37: Chr10:102584716 GRCh38: Chr10:100824959	PAX2	E360G	Focal segmental glomerulosclerosis 7, Renal coloboma syndrome	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 212324629.	NM_000278.5(PAX2):c.659G>A (p.Gly220Asp) GRCh37: Chr10:102566229 GRCh38: Chr10:100806472	PAX2	G220D, G251D, G243D	Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 211705030.	NM_000278.5(PAX2):c.43+1G>A GRCh37: Chr10:102506061 GRCh38: Chr10:100746304	PAX2		Focal segmental glomerulosclerosis 7, Renal coloboma syndrome	Likely pathogenic (Mar 26, 2022)	criteria provided, single submitter
Select item 211190731.	NM_000278.5(PAX2):c.920-4C>T GRCh37: Chr10:102584401 GRCh38: Chr10:100824644	PAX2		Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 211096332.	NM_000278.5(PAX2):c.92G>A (p.Arg31Gln) GRCh37: Chr10:102509551 GRCh38: Chr10:100749794	PAX2	R62Q, R31Q	Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 210316233.	NM_000278.5(PAX2):c.213-13T>C GRCh37: Chr10:102510438 GRCh38: Chr10:100750681	PAX2		Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Likely benign (Sep 17, 2022)	criteria provided, single submitter
Select item 210027734.	NM_000278.5(PAX2):c.792+16T>C GRCh37: Chr10:102566378 GRCh38: Chr10:100806621	PAX2		Focal segmental glomerulosclerosis 7, Renal coloboma syndrome	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 209864035.	NM_000278.5(PAX2):c.194T>C (p.Val65Ala) GRCh37: Chr10:102509653 GRCh38: Chr10:100749896	PAX2	V65A, V96A	Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 209763536.	NM_000278.5(PAX2):c.1021+236G>C GRCh37: Chr10:102584742 GRCh38: Chr10:100824985	PAX2		Focal segmental glomerulosclerosis 7, Renal coloboma syndrome	Uncertain significance (Feb 14, 2022)	criteria provided, single submitter
Select item 209332737.	NM_000278.5(PAX2):c.311G>A (p.Arg104Gln) GRCh37: Chr10:102510549 GRCh38: Chr10:100750792	PAX2	R104Q, R135Q	Focal segmental glomerulosclerosis 7, Renal coloboma syndrome	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 208915138.	NM_000278.5(PAX2):c.520G>A (p.Val174Ile) GRCh37: Chr10:102541026 GRCh38: Chr10:100781269	PAX2	V205I, V174I	Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Uncertain significance (Jan 22, 2022)	criteria provided, single submitter
Select item 208785439.	NM_000278.5(PAX2):c.198C>G (p.Ser66Arg) GRCh37: Chr10:102509657 GRCh38: Chr10:100749900	PAX2	S97R, S66R	Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 208694340.	NM_000278.5(PAX2):c.1087T>G (p.Phe363Val) GRCh37: Chr10:102586831 GRCh38: Chr10:100827074	PAX2	D390E, F363V, F394V, F386V	Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 208685941.	NM_000278.5(PAX2):c.212+1G>T GRCh37: Chr10:102509672 GRCh38: Chr10:100749915	PAX2		Focal segmental glomerulosclerosis 7, Renal coloboma syndrome	Likely pathogenic (Jul 12, 2022)	criteria provided, single submitter
Select item 208476742.	NM_000278.5(PAX2):c.54G>T (p.Gly18=) GRCh37: Chr10:102509513 GRCh38: Chr10:100749756	PAX2		Focal segmental glomerulosclerosis 7, Renal coloboma syndrome	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 208040343.	NM_000278.5(PAX2):c.933G>A (p.Ala311=) GRCh37: Chr10:102584418 GRCh38: Chr10:100824661	PAX2		Focal segmental glomerulosclerosis 7, Renal coloboma syndrome	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 207790144.	NM_000278.5(PAX2):c.212+18G>A GRCh37: Chr10:102509689 GRCh38: Chr10:100749932	PAX2		Focal segmental glomerulosclerosis 7, Renal coloboma syndrome	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 207500645.	NM_000278.5(PAX2):c.1021+196G>A GRCh37: Chr10:102584702 GRCh38: Chr10:100824945	PAX2		Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Likely benign (Jul 21, 2022)	criteria provided, single submitter
Select item 206662846.	NM_000278.5(PAX2):c.888G>T (p.Val296=) GRCh37: Chr10:102568962 GRCh38: Chr10:100809205	PAX2		Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Likely benign (Dec 30, 2021)	criteria provided, single submitter
Select item 206254747.	NM_000278.5(PAX2):c.310C>A (p.Arg104=) GRCh37: Chr10:102510548 GRCh38: Chr10:100750791	PAX2		Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Likely benign (Nov 2, 2022)	criteria provided, single submitter
Select item 206079248.	NM_000278.5(PAX2):c.361G>A (p.Glu121Lys) GRCh37: Chr10:102510599 GRCh38: Chr10:100750842	PAX2	E121K, E152K	Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Uncertain significance (Mar 6, 2022)	criteria provided, single submitter
Select item 205311549.	NM_000278.5(PAX2):c.656G>C (p.Ser219Thr) GRCh37: Chr10:102566226 GRCh38: Chr10:100806469	PAX2	S219T, S242T, S250T	Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 205103450.	NM_000278.5(PAX2):c.550T>A (p.Ser184Thr) GRCh37: Chr10:102541056 GRCh38: Chr10:100781299	PAX2	S184T, S215T	Focal segmental glomerulosclerosis 7, Renal coloboma syndrome	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 204878851.	NM_000278.5(PAX2):c.879C>A (p.Gly293=) GRCh37: Chr10:102568953 GRCh38: Chr10:100809196	PAX2		Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Likely benign (May 28, 2022)	criteria provided, single submitter
Select item 204805852.	NM_000278.5(PAX2):c.*52C>G GRCh37: Chr10:102587428 GRCh38: Chr10:100827671	PAX2	I429M, I406M	Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Likely benign (Aug 29, 2019)	criteria provided, single submitter
Select item 204805053.	NM_000278.5(PAX2):c.76G>A (p.Val26Met) GRCh37: Chr10:102509535 GRCh38: Chr10:100749778	PAX2	V26M, V57M	Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Uncertain significance (Apr 23, 2022)	criteria provided, single submitter
Select item 204675854.	NM_000278.5(PAX2):c.148C>A (p.Arg50=) GRCh37: Chr10:102509607 GRCh38: Chr10:100749850	PAX2		Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Likely benign (Jun 1, 2022)	criteria provided, single submitter
Select item 204351555.	NM_000278.5(PAX2):c.975T>A (p.Thr325=) GRCh37: Chr10:102584460 GRCh38: Chr10:100824703	PAX2		Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 204268556.	NM_000278.5(PAX2):c.922C>T (p.Arg308Cys) GRCh37: Chr10:102584407 GRCh38: Chr10:100824650	PAX2	R308C, R331C, R339C	Inborn genetic diseases, Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Uncertain significance (Nov 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 204080757.	NM_000278.5(PAX2):c.812C>G (p.Pro271Arg) GRCh37: Chr10:102568886 GRCh38: Chr10:100809129	PAX2	P294R, P271R, P302R	Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 204003958.	NM_000278.5(PAX2):c.8T>C (p.Met3Thr) GRCh37: Chr10:102506025 GRCh38: Chr10:100746268	PAX2	M3T, M34T	Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 204001959.	NM_000278.5(PAX2):c.225C>T (p.Thr75=) GRCh37: Chr10:102510463 GRCh38: Chr10:100750706	PAX2		Focal segmental glomerulosclerosis 7, Renal coloboma syndrome	Likely benign (Sep 4, 2022)	criteria provided, single submitter
Select item 203824360.	NM_000278.5(PAX2):c.1021+192C>T GRCh37: Chr10:102584698 GRCh38: Chr10:100824941	PAX2	P354L	Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 203521161.	NM_000278.5(PAX2):c.685C>A (p.Arg229=) GRCh37: Chr10:102566255 GRCh38: Chr10:100806498	PAX2		Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 203454862.	NM_000278.5(PAX2):c.1021+192C>G GRCh37: Chr10:102584698 GRCh38: Chr10:100824941	PAX2	P354R	Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 203213763.	NM_000278.5(PAX2):c.97del (p.Leu33fs) GRCh37: Chr10:102509553 GRCh38: Chr10:100749796	PAX2	L33fs, L64fs	Focal segmental glomerulosclerosis 7, Renal coloboma syndrome	Pathogenic (Sep 28, 2022)	criteria provided, single submitter
Select item 202727464.	NM_000278.5(PAX2):c.225del (p.Gly76fs) GRCh37: Chr10:102510462 GRCh38: Chr10:100750705	PAX2	G107fs, G76fs	Focal segmental glomerulosclerosis 7, Renal coloboma syndrome	Pathogenic (Aug 27, 2022)	criteria provided, single submitter
Select item 202408765.	NM_000278.5(PAX2):c.115del (p.Gln39fs) GRCh37: Chr10:102509574 GRCh38: Chr10:100749817	PAX2	Q39fs, Q70fs	Focal segmental glomerulosclerosis 7, Renal coloboma syndrome	Pathogenic (Aug 13, 2022)	criteria provided, single submitter
Select item 202216666.	NM_000278.5(PAX2):c.227dup (p.Ser77fs) GRCh37: Chr10:102510463-102510464 GRCh38: Chr10:100750706-100750707	PAX2	S108fs, S77fs	Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Pathogenic (Aug 6, 2022)	criteria provided, single submitter
Select item 202216567.	NM_000278.5(PAX2):c.221_223del (p.Glu74_Thr75delinsAla) GRCh37: Chr10:102510459-102510461 GRCh38: Chr10:100750702-100750704	PAX2		Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 201230468.	NM_000278.5(PAX2):c.1022G>T (p.Gly341Val) GRCh37: Chr10:102586766 GRCh38: Chr10:100827009	PAX2	G372V, G341V, G369*, G364V	Focal segmental glomerulosclerosis 7, Renal coloboma syndrome	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 200979469.	NM_000278.5(PAX2):c.367A>G (p.Ile123Val) GRCh37: Chr10:102510605 GRCh38: Chr10:100750848	PAX2	I123V, I154V	Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 200891970.	NM_000278.5(PAX2):c.327G>A (p.Met109Ile) GRCh37: Chr10:102510565 GRCh38: Chr10:100750808	PAX2	M109I, M140I	Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 200381871.	NM_000278.5(PAX2):c.501C>T (p.Pro167=) GRCh37: Chr10:102541007 GRCh38: Chr10:100781250	PAX2		Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Uncertain significance (Jun 9, 2022)	criteria provided, single submitter
Select item 199755972.	NM_000278.5(PAX2):c.1021+247C>T GRCh37: Chr10:102584753 GRCh38: Chr10:100824996	PAX2		Focal segmental glomerulosclerosis 7, Renal coloboma syndrome	Likely benign (Dec 1, 2021)	criteria provided, single submitter
Select item 199229873.	NM_000278.5(PAX2):c.665A>G (p.Asp222Gly) GRCh37: Chr10:102566235 GRCh38: Chr10:100806478	PAX2	D222G, D253G, D245G	Focal segmental glomerulosclerosis 7, Renal coloboma syndrome	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 199222374.	NM_000278.5(PAX2):c.1021+143C>G GRCh37: Chr10:102584649 GRCh38: Chr10:100824892	PAX2		Focal segmental glomerulosclerosis 7, Renal coloboma syndrome	Uncertain significance (Sep 10, 2022)	criteria provided, single submitter
Select item 198787375.	NM_000278.5(PAX2):c.527G>C (p.Ser176Thr) GRCh37: Chr10:102541033 GRCh38: Chr10:100781276	PAX2	S207T, S176T	Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Uncertain significance (Oct 23, 2022)	criteria provided, single submitter
Select item 196927376.	NM_000278.5(PAX2):c.915G>C (p.Val305=) GRCh37: Chr10:102568989 GRCh38: Chr10:100809232	PAX2		Focal segmental glomerulosclerosis 7, Renal coloboma syndrome	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 195354177.	NM_000278.5(PAX2):c.638C>G (p.Pro213Arg) GRCh37: Chr10:102566208 GRCh38: Chr10:100806451	PAX2	P213R, P236R, P244R	Focal segmental glomerulosclerosis 7, Renal coloboma syndrome	Uncertain significance (Apr 16, 2022)	criteria provided, single submitter
Select item 195003978.	NM_000278.5(PAX2):c.846G>A (p.Ser282=) GRCh37: Chr10:102568920 GRCh38: Chr10:100809163	PAX2		Focal segmental glomerulosclerosis 7, Renal coloboma syndrome	Benign (Aug 19, 2022)	criteria provided, single submitter
Select item 194093079.	NM_000278.5(PAX2):c.585C>A (p.Arg195=) GRCh37: Chr10:102541091 GRCh38: Chr10:100781334	PAX2		Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 194044280.	NM_000278.5(PAX2):c.967C>T (p.Pro323Ser) GRCh37: Chr10:102584452 GRCh38: Chr10:100824695	PAX2	P323S, P346S, P354S	Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 193848581.	NM_000278.5(PAX2):c.750C>A (p.Tyr250Ter) GRCh37: Chr10:102566320 GRCh38: Chr10:100806563	PAX2	Y273, Y281, Y250*	Focal segmental glomerulosclerosis 7, Renal coloboma syndrome	Pathogenic (Sep 13, 2022)	criteria provided, single submitter
Select item 193012882.	NM_000278.5(PAX2):c.103G>C (p.Asp35His) GRCh37: Chr10:102509562 GRCh38: Chr10:100749805	PAX2	D66H, D35H	Focal segmental glomerulosclerosis 7, Renal coloboma syndrome	Uncertain significance (Sep 12, 2022)	criteria provided, single submitter
Select item 192408383.	NM_000278.5(PAX2):c.673C>T (p.Arg225Trp) GRCh37: Chr10:102566243 GRCh38: Chr10:100806486	PAX2	R248W, R256W, R225W	Focal segmental glomerulosclerosis 7, Renal coloboma syndrome	Uncertain significance (Dec 21, 2021)	criteria provided, single submitter
Select item 191974484.	NM_000278.5(PAX2):c.957C>G (p.Pro319=) GRCh37: Chr10:102584442 GRCh38: Chr10:100824685	PAX2		Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Uncertain significance (May 10, 2022)	criteria provided, single submitter
Select item 191022885.	NM_000278.5(PAX2):c.44-2A>G GRCh37: Chr10:102509501 GRCh38: Chr10:100749744	PAX2		Focal segmental glomerulosclerosis 7, Renal coloboma syndrome	Likely pathogenic (Jul 27, 2022)	criteria provided, single submitter
Select item 172176586.	NM_000278.5(PAX2):c.1041C>T (p.Asn347=) GRCh37: Chr10:102586785 GRCh38: Chr10:100827028	PAX2	T375I	Focal segmental glomerulosclerosis 7, Renal coloboma syndrome	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 171972887.	NM_000278.5(PAX2):c.352C>G (p.Leu118Val) GRCh37: Chr10:102510590 GRCh38: Chr10:100750833	PAX2	L118V, L149V	Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Uncertain significance (Sep 18, 2022)	criteria provided, single submitter
Select item 171884888.	NM_000278.5(PAX2):c.1026C>T (p.Ser342=) GRCh37: Chr10:102586770 GRCh38: Chr10:100827013	PAX2	A370V	Focal segmental glomerulosclerosis 7, Renal coloboma syndrome	Uncertain significance (Sep 5, 2022)	criteria provided, single submitter
Select item 170546989.	NM_000278.5(PAX2):c.409A>T (p.Arg137Ter) GRCh37: Chr10:102510647 GRCh38: Chr10:100750890	PAX2	R137, R168	Renal coloboma syndrome	Pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 168740990.	NM_000278.5(PAX2):c.841_845del (p.Lys281fs) GRCh37: Chr10:102568910-102568914 GRCh38: Chr10:100809153-100809157	PAX2	K281fs, K304fs, K312fs	Renal coloboma syndrome	Likely pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 168600491.	NM_000278.5(PAX2):c.756_792+4del GRCh37: Chr10:102566323-102566363 GRCh38: Chr10:100806566-100806606	PAX2		Renal coloboma syndrome	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 167160092.	NM_000278.5(PAX2):c.945G>C (p.Leu315=) GRCh37: Chr10:102584430 GRCh38: Chr10:100824673	PAX2		Focal segmental glomerulosclerosis 7, Renal coloboma syndrome	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 166303193.	NM_000278.5(PAX2):c.1022-19C>T GRCh37: Chr10:102586747 GRCh38: Chr10:100826990	PAX2		Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 163827294.	NM_000278.5(PAX2):c.1021+181C>G GRCh37: Chr10:102584687 GRCh38: Chr10:100824930	PAX2		Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Likely benign (Oct 23, 2021)	criteria provided, single submitter
Select item 163428495.	NM_000278.5(PAX2):c.728G>A (p.Arg243Gln) GRCh37: Chr10:102566298 GRCh38: Chr10:100806541	PAX2	R243Q, R266Q, R274Q	Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 163341596.	NM_000278.5(PAX2):c.249C>T (p.Ile83=) GRCh37: Chr10:102510487 GRCh38: Chr10:100750730	PAX2		Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 163127297.	NM_000278.5(PAX2):c.43+9C>A GRCh37: Chr10:102506069 GRCh38: Chr10:100746312	PAX2		Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Likely benign (Mar 31, 2021)	criteria provided, single submitter
Select item 162412798.	NM_000278.5(PAX2):c.276G>A (p.Thr92=) GRCh37: Chr10:102510514 GRCh38: Chr10:100750757	PAX2		Focal segmental glomerulosclerosis 7, Renal coloboma syndrome	Likely benign (Mar 3, 2021)	criteria provided, single submitter
Select item 161921199.	NM_000278.5(PAX2):c.213-4G>T GRCh37: Chr10:102510447 GRCh38: Chr10:100750690	PAX2		Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Likely benign (Oct 30, 2021)	criteria provided, single submitter
Select item 1612534100.	NM_000278.5(PAX2):c.616+14A>C GRCh37: Chr10:102541136 GRCh38: Chr10:100781379	PAX2		Renal coloboma syndrome, Focal segmental glomerulosclerosis 7	Likely benign (Jul 18, 2022)	criteria provided, single submitter

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