ClinVar for MedGen (Select 462577) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24269031.	NC_000001.10:g.(?_26757796)_(26764723_?)del GRCh37: Chr1:26757796-26764723	DHDDS		Retinitis pigmentosa 59	Pathogenic (Aug 5, 2022)	criteria provided, single submitter
Select item 24269012.	NC_000001.10:g.(?_25870190)_(27278871_?)dup GRCh37: Chr1:25870190-27278871	ARID1A, AUNIP, CATSPER4, CD52, CEP85, CNKSR1, CRYBG2, DHDDS, EXTL1, FAM110D, GPATCH3, GPN2, HMGN2, KDF1, LDLRAP1, LIN28A, MAN1C1, MTFR1L, NR0B2, NUDC, PAFAH2, PAQR7, PDIK1L, PIGV, RPS6KA1, SELENON, SFN, SH3BGRL3, SLC30A2, STMN1, TRIM63, UBXN11, ZDHHC18, ZNF593, ZNF683		Retinitis pigmentosa 59	Uncertain significance (Apr 27, 2021)	criteria provided, single submitter
Select item 24269003.	NC_000001.10:g.(?_26784272)_(26795632_?)del GRCh37: Chr1:26784272-26795632	DHDDS		Retinitis pigmentosa 59	Pathogenic (Dec 12, 2021)	criteria provided, single submitter
Select item 22021674.	NM_205861.3(DHDDS):c.377T>C (p.Leu126Ser) GRCh37: Chr1:26772860 GRCh38: Chr1:26446369	DHDDS	L33S, L126S	Retinitis pigmentosa 59	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 21957005.	NM_205861.3(DHDDS):c.989C>A (p.Thr330Asn) GRCh37: Chr1:26795609 GRCh38: Chr1:26469118	DHDDS	T291N, T330N, T331N, T237N, T296N	Retinitis pigmentosa 59	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 21949086.	NM_205861.3(DHDDS):c.792G>C (p.Glu264Asp) GRCh37: Chr1:26795412 GRCh38: Chr1:26468921	DHDDS	E171D, E230D, E265D, E225D, E264D	Retinitis pigmentosa 59	Uncertain significance (Jun 9, 2022)	criteria provided, single submitter
Select item 21917537.	NM_205861.3(DHDDS):c.229G>A (p.Ala77Thr) GRCh37: Chr1:26769270 GRCh38: Chr1:26442779	DHDDS	A77T	Retinitis pigmentosa 59	Uncertain significance (Apr 26, 2022)	criteria provided, single submitter
Select item 21897028.	NM_205861.3(DHDDS):c.373C>T (p.His125Tyr) GRCh37: Chr1:26772856 GRCh38: Chr1:26446365	DHDDS	H32Y, H125Y	Retinitis pigmentosa 59	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 21823529.	NM_205861.3(DHDDS):c.492T>C (p.Asn164=) GRCh37: Chr1:26774101 GRCh38: Chr1:26447610	DHDDS		Retinitis pigmentosa 59	Likely benign (Apr 13, 2022)	criteria provided, single submitter
Select item 217624110.	NM_205861.3(DHDDS):c.893G>A (p.Arg298His) GRCh37: Chr1:26795513 GRCh38: Chr1:26469022	DHDDS	R205H, R299H, R298H, R259H, R264H	Retinitis pigmentosa 59, not provided	Conflicting interpretations of pathogenicity (Mar 1, 2022)	criteria provided, conflicting interpretations
Select item 217529411.	NM_205861.3(DHDDS):c.324-6G>C GRCh37: Chr1:26772801 GRCh38: Chr1:26446310	DHDDS		Retinitis pigmentosa 59	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 217494112.	NM_205861.3(DHDDS):c.586C>T (p.Arg196Cys) GRCh37: Chr1:26784325 GRCh38: Chr1:26457834	DHDDS	R162C, R103C, R196C, R157C	Retinitis pigmentosa 59	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 216916613.	NM_205861.3(DHDDS):c.961C>T (p.Arg321Ter) GRCh37: Chr1:26795581 GRCh38: Chr1:26469090	DHDDS	R321, R322, R228, R282, R287*	Retinitis pigmentosa 59	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 216805914.	NM_205861.3(DHDDS):c.496G>C (p.Val166Leu) GRCh37: Chr1:26774105 GRCh38: Chr1:26447614	DHDDS	V166L, V73L, V127L	Retinitis pigmentosa 59	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter
Select item 216744815.	NM_205861.3(DHDDS):c.864C>T (p.Ala288=) GRCh37: Chr1:26795484 GRCh38: Chr1:26468993	DHDDS		Retinitis pigmentosa 59	Likely benign (May 22, 2022)	criteria provided, single submitter
Select item 216602916.	NM_205861.3(DHDDS):c.946G>A (p.Ala316Thr) GRCh37: Chr1:26795566 GRCh38: Chr1:26469075	DHDDS	A282T, A277T, A317T, A223T, A316T	Retinitis pigmentosa 59	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 216438717.	NM_205861.3(DHDDS):c.873C>A (p.Asp291Glu) GRCh37: Chr1:26795493 GRCh38: Chr1:26469002	DHDDS	D291E, D198E, D292E, D252E, D257E	Retinitis pigmentosa 59	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 216224618.	NM_205861.3(DHDDS):c.773G>A (p.Arg258Gln) GRCh37: Chr1:26795393 GRCh38: Chr1:26468902	DHDDS	R224Q, R219Q, R258Q, R165Q, R259Q	Retinitis pigmentosa 59	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 216189319.	NM_205861.3(DHDDS):c.628G>A (p.Val210Met) GRCh37: Chr1:26784367 GRCh38: Chr1:26457876	DHDDS	V171M, V176M, V117M, V210M	Retinitis pigmentosa 59	Uncertain significance (Oct 10, 2021)	criteria provided, single submitter
Select item 215988120.	NM_205861.3(DHDDS):c.764A>G (p.Gln255Arg) GRCh37: Chr1:26786634 GRCh38: Chr1:26460143	DHDDS	Q216R, Q255R, Q162R, Q221R	Retinitis pigmentosa 59	Uncertain significance (Sep 26, 2022)	criteria provided, single submitter
Select item 215938121.	NM_205861.3(DHDDS):c.187C>T (p.Arg63Trp) GRCh37: Chr1:26769228 GRCh38: Chr1:26442737	DHDDS	R63W	Retinitis pigmentosa 59	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 215846222.	NM_205861.3(DHDDS):c.251A>G (p.Lys84Arg) GRCh37: Chr1:26769292 GRCh38: Chr1:26442801	DHDDS	K84R	Retinitis pigmentosa 59	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 215288123.	NM_205861.3(DHDDS):c.208A>G (p.Ile70Val) GRCh37: Chr1:26769249 GRCh38: Chr1:26442758	DHDDS	I70V	Retinitis pigmentosa 59	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 215020724.	NM_205861.3(DHDDS):c.188G>A (p.Arg63Gln) GRCh37: Chr1:26769229 GRCh38: Chr1:26442738	DHDDS	R63Q	Retinitis pigmentosa 59	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 215005025.	NM_205861.3(DHDDS):c.995C>G (p.Ser332Ter) GRCh37: Chr1:26795615 GRCh38: Chr1:26469124	DHDDS	S332, S293, S298, S333, S239*	Retinitis pigmentosa 59	Uncertain significance (Sep 21, 2022)	criteria provided, single submitter
Select item 214831026.	NM_205861.3(DHDDS):c.979C>G (p.Arg327Gly) GRCh37: Chr1:26795599 GRCh38: Chr1:26469108	DHDDS	R327G, R288G, R234G, R293G, R328G	Retinitis pigmentosa 59	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 214593727.	NM_205861.3(DHDDS):c.440+6T>C GRCh37: Chr1:26772929 GRCh38: Chr1:26446438	DHDDS		Retinitis pigmentosa 59	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 214562428.	NM_205861.3(DHDDS):c.542+6C>A GRCh37: Chr1:26774157 GRCh38: Chr1:26447666	DHDDS		Inborn genetic diseases, Retinitis pigmentosa 59	Uncertain significance (Jun 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 214524429.	NM_205861.3(DHDDS):c.323+11A>C GRCh37: Chr1:26769375 GRCh38: Chr1:26442884	DHDDS		Retinitis pigmentosa 59	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 214515430.	NM_205861.3(DHDDS):c.356G>A (p.Arg119Gln) GRCh37: Chr1:26772839 GRCh38: Chr1:26446348	DHDDS	R26Q, R119Q	Retinitis pigmentosa 59	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 213985331.	NM_205861.3(DHDDS):c.856C>A (p.Leu286Ile) GRCh37: Chr1:26795476 GRCh38: Chr1:26468985	DHDDS	L252I, L286I, L193I, L247I, L287I	Retinitis pigmentosa 59	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 213793632.	NM_205861.3(DHDDS):c.750C>A (p.Asn250Lys) GRCh37: Chr1:26786620 GRCh38: Chr1:26460129	DHDDS	N157K, N211K, N216K, N250K	Retinitis pigmentosa 59	Uncertain significance (Sep 3, 2022)	criteria provided, single submitter
Select item 213497333.	NM_205861.3(DHDDS):c.181-8C>T GRCh37: Chr1:26769214 GRCh38: Chr1:26442723	DHDDS		Retinitis pigmentosa 59	Likely benign (May 7, 2022)	criteria provided, single submitter
Select item 213449034.	NM_205861.3(DHDDS):c.64-3C>T GRCh37: Chr1:26764656 GRCh38: Chr1:26438165	DHDDS		Retinitis pigmentosa 59	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 213040235.	NM_205861.3(DHDDS):c.63+9T>C GRCh37: Chr1:26759508 GRCh38: Chr1:26433017	DHDDS		Retinitis pigmentosa 59	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 212289136.	NM_205861.3(DHDDS):c.921A>G (p.Glu307=) GRCh37: Chr1:26795541 GRCh38: Chr1:26469050	DHDDS		Retinitis pigmentosa 59	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 211788737.	NM_205861.3(DHDDS):c.496G>A (p.Val166Met) GRCh37: Chr1:26774105 GRCh38: Chr1:26447614	DHDDS	V127M, V166M, V73M	Retinitis pigmentosa 59	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 211707838.	NM_205861.3(DHDDS):c.772del (p.Arg258fs) GRCh37: Chr1:26795390 GRCh38: Chr1:26468899	DHDDS	R219fs, R165fs, R224fs, R258fs, R259fs	Retinitis pigmentosa 59	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 211707739.	NM_205861.3(DHDDS):c.550T>G (p.Ser184Ala) GRCh37: Chr1:26784289 GRCh38: Chr1:26457798	DHDDS	S184A, S145A, S91A, S150A	Retinitis pigmentosa 59	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 211245240.	NM_205861.3(DHDDS):c.63+19C>T GRCh37: Chr1:26759518 GRCh38: Chr1:26433027	DHDDS		Retinitis pigmentosa 59	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 211149141.	NM_205861.3(DHDDS):c.486C>T (p.Ile162=) GRCh37: Chr1:26774095 GRCh38: Chr1:26447604	DHDDS		Retinitis pigmentosa 59	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 210641142.	NM_205861.3(DHDDS):c.314T>C (p.Met105Thr) GRCh37: Chr1:26769355 GRCh38: Chr1:26442864	DHDDS	M12T, M105T	Retinitis pigmentosa 59	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 210604043.	NM_205861.3(DHDDS):c.717C>G (p.Asn239Lys) GRCh37: Chr1:26786587 GRCh38: Chr1:26460096	DHDDS	N205K, N146K, N200K, N239K	Retinitis pigmentosa 59	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 210566044.	NM_205861.3(DHDDS):c.776A>G (p.Asp259Gly) GRCh37: Chr1:26795396 GRCh38: Chr1:26468905	DHDDS	D166G, D259G, D260G, D220G, D225G	Retinitis pigmentosa 59	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 210542345.	NM_205861.3(DHDDS):c.167A>G (p.Asn56Ser) GRCh37: Chr1:26764762 GRCh38: Chr1:26438271	DHDDS	N56S	Retinitis pigmentosa 59	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 210406846.	NM_205861.3(DHDDS):c.139C>A (p.Arg47=) GRCh37: Chr1:26764734 GRCh38: Chr1:26438243	DHDDS		Retinitis pigmentosa 59	Likely benign (Feb 27, 2022)	criteria provided, single submitter
Select item 210226647.	NM_205861.3(DHDDS):c.180+6dup GRCh37: Chr1:26764780-26764781 GRCh38: Chr1:26438289-26438290	DHDDS		Retinitis pigmentosa 59	Likely benign (Feb 23, 2022)	criteria provided, single submitter
Select item 210223648.	NM_205861.3(DHDDS):c.230C>T (p.Ala77Val) GRCh37: Chr1:26769271 GRCh38: Chr1:26442780	DHDDS	A77V	Retinitis pigmentosa 59	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 210020649.	NM_205861.3(DHDDS):c.600T>C (p.Pro200=) GRCh37: Chr1:26784339 GRCh38: Chr1:26457848	DHDDS		Retinitis pigmentosa 59	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 209506350.	NM_205861.3(DHDDS):c.19G>A (p.Gly7Arg) GRCh37: Chr1:26759455 GRCh38: Chr1:26432964	DHDDS	G7R	Retinitis pigmentosa 59	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 208756351.	NM_205861.3(DHDDS):c.623G>A (p.Gly208Glu) GRCh37: Chr1:26784362 GRCh38: Chr1:26457871	DHDDS	G115E, G169E, G174E, G208E	Retinitis pigmentosa 59	Uncertain significance (Jan 18, 2022)	criteria provided, single submitter
Select item 208754452.	NM_205861.3(DHDDS):c.915A>G (p.Arg305=) GRCh37: Chr1:26795535 GRCh38: Chr1:26469044	DHDDS		Retinitis pigmentosa 59	Likely benign (Jan 18, 2022)	criteria provided, single submitter
Select item 207953353.	NM_205861.3(DHDDS):c.658-5C>T GRCh37: Chr1:26786523 GRCh38: Chr1:26460032	DHDDS		Retinitis pigmentosa 59	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 207410854.	NM_205861.3(DHDDS):c.440+10C>T GRCh37: Chr1:26772933 GRCh38: Chr1:26446442	DHDDS		Retinitis pigmentosa 59	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 207403855.	NM_205861.3(DHDDS):c.884G>A (p.Arg295Gln) GRCh37: Chr1:26795504 GRCh38: Chr1:26469013	DHDDS	R202Q, R296Q, R256Q, R261Q, R295Q	Retinitis pigmentosa 59	Uncertain significance (Feb 11, 2022)	criteria provided, single submitter
Select item 206934056.	NM_205861.3(DHDDS):c.135G>T (p.Val45=) GRCh37: Chr1:26764730 GRCh38: Chr1:26438239	DHDDS		Retinitis pigmentosa 59	Likely benign (Jan 1, 2022)	criteria provided, single submitter
Select item 205169757.	NM_205861.3(DHDDS):c.883C>T (p.Arg295Ter) GRCh37: Chr1:26795503 GRCh38: Chr1:26469012	DHDDS	R256, R296, R202, R261, R295*	Retinitis pigmentosa 59	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 205120158.	NM_205861.3(DHDDS):c.144G>C (p.Gln48His) GRCh37: Chr1:26764739 GRCh38: Chr1:26438248	DHDDS	Q48H	Retinitis pigmentosa 59	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 204894659.	NM_205861.3(DHDDS):c.801G>A (p.Arg267=) GRCh37: Chr1:26795421 GRCh38: Chr1:26468930	DHDDS		Retinitis pigmentosa 59	Likely benign (Jan 14, 2022)	criteria provided, single submitter
Select item 204545260.	NM_205861.3(DHDDS):c.367G>A (p.Asp123Asn) GRCh37: Chr1:26772850 GRCh38: Chr1:26446359	DHDDS	D30N, D123N	DHDDS-related condition, Inborn genetic diseases, Retinitis pigmentosa 59	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 204078861.	NM_205861.3(DHDDS):c.384C>T (p.Pro128=) GRCh37: Chr1:26772867 GRCh38: Chr1:26446376	DHDDS		Retinitis pigmentosa 59	Likely benign (Dec 12, 2021)	criteria provided, single submitter
Select item 203899062.	NM_205861.3(DHDDS):c.180+13G>A GRCh37: Chr1:26764788 GRCh38: Chr1:26438297	DHDDS		Retinitis pigmentosa 59	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 203606663.	NM_205861.3(DHDDS):c.876C>G (p.Ala292=) GRCh37: Chr1:26795496 GRCh38: Chr1:26469005	DHDDS		Retinitis pigmentosa 59	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 203352464.	NM_205861.3(DHDDS):c.77C>T (p.Pro26Leu) GRCh37: Chr1:26764672 GRCh38: Chr1:26438181	DHDDS	P26L	Retinitis pigmentosa 59	Uncertain significance (Sep 21, 2022)	criteria provided, single submitter
Select item 203341465.	NM_205861.3(DHDDS):c.440+7T>A GRCh37: Chr1:26772930 GRCh38: Chr1:26446439	DHDDS		Retinitis pigmentosa 59	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 203244666.	NM_205861.3(DHDDS):c.324-8C>T GRCh37: Chr1:26772799 GRCh38: Chr1:26446308	DHDDS		Retinitis pigmentosa 59	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 203058967.	NM_205861.3(DHDDS):c.51C>T (p.Ala17=) GRCh37: Chr1:26759487 GRCh38: Chr1:26432996	DHDDS		Retinitis pigmentosa 59	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 202582868.	NM_205861.3(DHDDS):c.613C>T (p.Arg205Trp) GRCh37: Chr1:26784352 GRCh38: Chr1:26457861	DHDDS	R166W, R112W, R171W, R205W	Retinitis pigmentosa 59	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 202505469.	NM_205861.3(DHDDS):c.323+16A>T GRCh37: Chr1:26769380 GRCh38: Chr1:26442889	DHDDS		Retinitis pigmentosa 59	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 202468370.	NM_205861.3(DHDDS):c.951G>A (p.Leu317=) GRCh37: Chr1:26795571 GRCh38: Chr1:26469080	DHDDS		Retinitis pigmentosa 59	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 202206371.	NM_205861.3(DHDDS):c.765+7A>G GRCh37: Chr1:26786642 GRCh38: Chr1:26460151	DHDDS		Retinitis pigmentosa 59	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 202174772.	NM_205861.3(DHDDS):c.100del (p.Asp34fs) GRCh37: Chr1:26764694 GRCh38: Chr1:26438203	DHDDS	D34fs	Retinitis pigmentosa 59	Pathogenic (Nov 2, 2022)	criteria provided, single submitter
Select item 201974373.	NM_205861.3(DHDDS):c.440+12_440+13del GRCh37: Chr1:26772934-26772935 GRCh38: Chr1:26446443-26446444	DHDDS		Retinitis pigmentosa 59	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 201925674.	NM_205861.3(DHDDS):c.180+8T>C GRCh37: Chr1:26764783 GRCh38: Chr1:26438292	DHDDS		Retinitis pigmentosa 59	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 200630775.	NM_205861.3(DHDDS):c.42G>A (p.Arg14=) GRCh37: Chr1:26759478 GRCh38: Chr1:26432987	DHDDS		Retinitis pigmentosa 59	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 200488276.	NM_205861.3(DHDDS):c.705T>C (p.Tyr235=) GRCh37: Chr1:26786575 GRCh38: Chr1:26460084	DHDDS		Retinitis pigmentosa 59	Likely benign (Jun 11, 2022)	criteria provided, single submitter
Select item 200069377.	NM_205861.3(DHDDS):c.565G>C (p.Asp189His) GRCh37: Chr1:26784304 GRCh38: Chr1:26457813	DHDDS	D155H, D189H, D150H, D96H	Retinitis pigmentosa 59	Uncertain significance (Jul 4, 2022)	criteria provided, single submitter
Select item 200010978.	NM_205861.3(DHDDS):c.513G>A (p.Trp171Ter) GRCh37: Chr1:26774122 GRCh38: Chr1:26447631	DHDDS	W78, W132, W171*	Retinitis pigmentosa 59	Pathogenic (May 28, 2022)	criteria provided, single submitter
Select item 199890479.	NM_205861.3(DHDDS):c.180+18A>G GRCh37: Chr1:26764793 GRCh38: Chr1:26438302	DHDDS		Retinitis pigmentosa 59	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 199444280.	NM_205861.3(DHDDS):c.898C>T (p.His300Tyr) GRCh37: Chr1:26795518 GRCh38: Chr1:26469027	DHDDS	H207Y, H261Y, H301Y, H266Y, H300Y	Retinitis pigmentosa 59	Uncertain significance (May 14, 2022)	criteria provided, single submitter
Select item 199393781.	NM_205861.3(DHDDS):c.658-5C>G GRCh37: Chr1:26786523 GRCh38: Chr1:26460032	DHDDS		Retinitis pigmentosa 59	Likely benign (May 20, 2022)	criteria provided, single submitter
Select item 198640482.	NM_205861.3(DHDDS):c.851A>G (p.Glu284Gly) GRCh37: Chr1:26795471 GRCh38: Chr1:26468980	DHDDS	E245G, E250G, E285G, E191G, E284G	Retinitis pigmentosa 59	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 198074983.	NM_205861.3(DHDDS):c.649C>T (p.Leu217=) GRCh37: Chr1:26784388 GRCh38: Chr1:26457897	DHDDS		Retinitis pigmentosa 59	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 197942784.	NM_205861.3(DHDDS):c.766-12T>A GRCh37: Chr1:26795374 GRCh38: Chr1:26468883	DHDDS		Retinitis pigmentosa 59	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 197728985.	NM_205861.3(DHDDS):c.843G>A (p.Leu281=) GRCh37: Chr1:26795463 GRCh38: Chr1:26468972	DHDDS		Retinitis pigmentosa 59	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 197326686.	NM_205861.3(DHDDS):c.261G>A (p.Lys87=) GRCh37: Chr1:26769302 GRCh38: Chr1:26442811	DHDDS		Retinitis pigmentosa 59	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 197174387.	NM_205861.3(DHDDS):c.650_657+54del GRCh37: Chr1:26784388-26784449 GRCh38: Chr1:26457897-26457958	DHDDS		Retinitis pigmentosa 59	Likely pathogenic (Feb 4, 2022)	criteria provided, single submitter
Select item 196452488.	NM_205861.3(DHDDS):c.445T>C (p.Phe149Leu) GRCh37: Chr1:26774054 GRCh38: Chr1:26447563	DHDDS	F149L, F56L, F110L	Retinitis pigmentosa 59	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 196429189.	NM_205861.3(DHDDS):c.364G>A (p.Gly122Ser) GRCh37: Chr1:26772847 GRCh38: Chr1:26446356	DHDDS	G122S, G29S	Retinitis pigmentosa 59	Uncertain significance (Jan 17, 2022)	criteria provided, single submitter
Select item 195855390.	NM_205861.3(DHDDS):c.177T>C (p.Ala59=) GRCh37: Chr1:26764772 GRCh38: Chr1:26438281	DHDDS		Retinitis pigmentosa 59	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 195776991.	NM_205861.3(DHDDS):c.973C>T (p.Leu325=) GRCh37: Chr1:26795593 GRCh38: Chr1:26469102	DHDDS		Retinitis pigmentosa 59	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 195516892.	NM_205861.3(DHDDS):c.513G>C (p.Trp171Cys) GRCh37: Chr1:26774122 GRCh38: Chr1:26447631	DHDDS	W171C, W78C, W132C	Retinitis pigmentosa 59	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 195507393.	NM_205861.3(DHDDS):c.580A>G (p.Thr194Ala) GRCh37: Chr1:26784319 GRCh38: Chr1:26457828	DHDDS	T194A, T155A, T160A, T101A	Retinitis pigmentosa 59	Uncertain significance (Oct 29, 2022)	criteria provided, single submitter
Select item 195287494.	NM_205861.3(DHDDS):c.64-20T>C GRCh37: Chr1:26764639 GRCh38: Chr1:26438148	DHDDS		Retinitis pigmentosa 59	Likely benign (May 8, 2022)	criteria provided, single submitter
Select item 194766195.	NM_205861.3(DHDDS):c.443G>A (p.Cys148Tyr) GRCh37: Chr1:26774052 GRCh38: Chr1:26447561	DHDDS	C109Y, C55Y, C148Y	Retinitis pigmentosa 59	Uncertain significance (Oct 2, 2022)	criteria provided, single submitter
Select item 194552596.	NM_205861.3(DHDDS):c.657+11T>G GRCh37: Chr1:26784407 GRCh38: Chr1:26457916	DHDDS		Retinitis pigmentosa 59	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 194111997.	NM_205861.3(DHDDS):c.408A>G (p.Ala136=) GRCh37: Chr1:26772891 GRCh38: Chr1:26446400	DHDDS		Retinitis pigmentosa 59	Likely benign (Mar 31, 2022)	criteria provided, single submitter
Select item 193645698.	NM_205861.3(DHDDS):c.117T>C (p.Tyr39=) GRCh37: Chr1:26764712 GRCh38: Chr1:26438221	DHDDS		Retinitis pigmentosa 59	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 192208299.	NM_205861.3(DHDDS):c.766-7C>G GRCh37: Chr1:26795379 GRCh38: Chr1:26468888	DHDDS		Retinitis pigmentosa 59	Likely benign (Jan 16, 2022)	criteria provided, single submitter
Select item 1907496100.	NM_205861.3(DHDDS):c.566A>G (p.Asp189Gly) GRCh37: Chr1:26784305 GRCh38: Chr1:26457814	DHDDS	D155G, D189G, D96G, D150G	Retinitis pigmentosa 59, Inborn genetic diseases	Uncertain significance (Jun 12, 2022)	criteria provided, multiple submitters, no conflicts

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