ClinVar for MedGen (Select 347535) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24276181.	NC_000001.10:g.(?_211652378)_(211654757_?)del GRCh37: Chr1:211652378-211654757	RD3		Leber congenital amaurosis 12	Pathogenic (Jul 27, 2022)	criteria provided, single submitter
Select item 21998232.	NM_001164688.2(RD3):c.149C>T (p.Ala50Val) GRCh37: Chr1:211654609 GRCh38: Chr1:211481267	RD3	A50V	Leber congenital amaurosis 12	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 21979833.	NM_001164688.2(RD3):c.255C>T (p.Cys85=) GRCh37: Chr1:211654503 GRCh38: Chr1:211481161	RD3		Leber congenital amaurosis 12	Likely benign (May 11, 2022)	criteria provided, single submitter
Select item 21908754.	NM_001164688.2(RD3):c.113G>A (p.Arg38Gln) GRCh37: Chr1:211654645 GRCh38: Chr1:211481303	RD3	R38Q	Leber congenital amaurosis 12	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 21803655.	NM_001164688.2(RD3):c.53C>T (p.Thr18Ile) GRCh37: Chr1:211654705 GRCh38: Chr1:211481363	RD3	T18I	Leber congenital amaurosis 12	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 21736706.	NM_001164688.2(RD3):c.360G>A (p.Ser120=) GRCh37: Chr1:211652606 GRCh38: Chr1:211479264	RD3		Leber congenital amaurosis 12	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 21576467.	NM_001164688.2(RD3):c.568C>A (p.Arg190=) GRCh37: Chr1:211652398 GRCh38: Chr1:211479056	RD3		Leber congenital amaurosis 12	Likely benign (Feb 19, 2022)	criteria provided, single submitter
Select item 21509068.	NM_001164688.2(RD3):c.256G>A (p.Val86Ile) GRCh37: Chr1:211654502 GRCh38: Chr1:211481160	RD3	V86I	Leber congenital amaurosis 12	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 21495579.	NM_001164688.2(RD3):c.87T>C (p.Leu29=) GRCh37: Chr1:211654671 GRCh38: Chr1:211481329	RD3		Leber congenital amaurosis 12	Likely benign (Jan 27, 2022)	criteria provided, single submitter
Select item 212549810.	NM_001164688.2(RD3):c.83C>A (p.Thr28Lys) GRCh37: Chr1:211654675 GRCh38: Chr1:211481333	RD3	T28K	Leber congenital amaurosis 12	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 211432611.	NM_001164688.2(RD3):c.483C>G (p.Pro161=) GRCh37: Chr1:211652483 GRCh38: Chr1:211479141	RD3		Leber congenital amaurosis 12	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 211057812.	NM_001164688.2(RD3):c.381G>A (p.Glu127=) GRCh37: Chr1:211652585 GRCh38: Chr1:211479243	RD3		Leber congenital amaurosis 12	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 210686213.	NM_001164688.2(RD3):c.238C>T (p.Gln80Ter) GRCh37: Chr1:211654520 GRCh38: Chr1:211481178	RD3	Q80*	Leber congenital amaurosis 12	Pathogenic (Mar 4, 2022)	criteria provided, single submitter
Select item 210258414.	NM_001164688.2(RD3):c.1A>G (p.Met1Val) GRCh37: Chr1:211654757 GRCh38: Chr1:211481415	RD3	M1V	Leber congenital amaurosis 12	Uncertain significance (Feb 23, 2022)	criteria provided, single submitter
Select item 207971615.	NM_001164688.2(RD3):c.438C>T (p.Pro146=) GRCh37: Chr1:211652528 GRCh38: Chr1:211479186	RD3		Leber congenital amaurosis 12	Likely benign (Sep 17, 2022)	criteria provided, single submitter
Select item 206097116.	NM_001164688.2(RD3):c.11T>C (p.Ile4Thr) GRCh37: Chr1:211654747 GRCh38: Chr1:211481405	RD3	I4T	Leber congenital amaurosis 12	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 205159117.	NM_001164688.2(RD3):c.119C>T (p.Ala40Val) GRCh37: Chr1:211654639 GRCh38: Chr1:211481297	RD3	A40V	Leber congenital amaurosis 12	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 204936718.	NM_001164688.2(RD3):c.216C>T (p.Asp72=) GRCh37: Chr1:211654542 GRCh38: Chr1:211481200	RD3		Leber congenital amaurosis 12	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 202264919.	NM_001164688.2(RD3):c.141C>T (p.Arg47=) GRCh37: Chr1:211654617 GRCh38: Chr1:211481275	RD3		Leber congenital amaurosis 12	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 201934320.	NM_001164688.2(RD3):c.264C>T (p.Ile88=) GRCh37: Chr1:211654494 GRCh38: Chr1:211481152	RD3		Leber congenital amaurosis 12	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 201258521.	NM_001164688.2(RD3):c.481C>T (p.Pro161Ser) GRCh37: Chr1:211652485 GRCh38: Chr1:211479143	RD3	P161S	Leber congenital amaurosis 12	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 201061022.	NM_001164688.2(RD3):c.296G>A (p.Arg99Lys) GRCh37: Chr1:211654462 GRCh38: Chr1:211481120	RD3	R99K	Leber congenital amaurosis 12	Uncertain significance (Jun 25, 2022)	criteria provided, single submitter
Select item 200323323.	NM_001164688.2(RD3):c.38del (p.Pro13fs) GRCh37: Chr1:211654720 GRCh38: Chr1:211481378	RD3	P13fs	Leber congenital amaurosis 12	Pathogenic (Jun 14, 2022)	criteria provided, single submitter
Select item 199449724.	NM_001164688.2(RD3):c.582C>T (p.Ala194=) GRCh37: Chr1:211652384 GRCh38: Chr1:211479042	RD3		Leber congenital amaurosis 12	Likely benign (May 14, 2022)	criteria provided, single submitter
Select item 199417825.	NM_001164688.2(RD3):c.207C>G (p.Ser69=) GRCh37: Chr1:211654551 GRCh38: Chr1:211481209	RD3		Leber congenital amaurosis 12	Likely benign (May 13, 2022)	criteria provided, single submitter
Select item 197580126.	NM_001164688.2(RD3):c.431T>A (p.Leu144Gln) GRCh37: Chr1:211652535 GRCh38: Chr1:211479193	RD3	L144Q	Leber congenital amaurosis 12	Uncertain significance (Jan 21, 2022)	criteria provided, single submitter
Select item 195004827.	NM_001164688.2(RD3):c.511G>C (p.Glu171Gln) GRCh37: Chr1:211652455 GRCh38: Chr1:211479113	RD3	E171Q	Leber congenital amaurosis 12	Uncertain significance (May 10, 2022)	criteria provided, single submitter
Select item 194913928.	NM_001164688.2(RD3):c.466_467delinsTT (p.Arg156Phe) GRCh37: Chr1:211652499-211652500 GRCh38: Chr1:211479157-211479158	RD3	R156F	Leber congenital amaurosis 12	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 192754829.	NM_001164688.2(RD3):c.111G>A (p.Met37Ile) GRCh37: Chr1:211654647 GRCh38: Chr1:211481305	RD3	M37I	Leber congenital amaurosis 12	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 191883830.	NM_001164688.2(RD3):c.333G>T (p.Val111=) GRCh37: Chr1:211652633 GRCh38: Chr1:211479291	RD3		Leber congenital amaurosis 12	Likely benign (Mar 2, 2022)	criteria provided, single submitter
Select item 165811931.	NM_001164688.2(RD3):c.297-16C>T GRCh37: Chr1:211652685 GRCh38: Chr1:211479343	RD3		Leber congenital amaurosis 12	Likely benign (Dec 3, 2020)	criteria provided, single submitter
Select item 163176032.	NM_001164688.2(RD3):c.537G>T (p.Pro179=) GRCh37: Chr1:211652429 GRCh38: Chr1:211479087	RD3		Leber congenital amaurosis 12	Likely benign (Nov 4, 2021)	criteria provided, single submitter
Select item 158043033.	NM_001164688.2(RD3):c.450G>A (p.Leu150=) GRCh37: Chr1:211652516 GRCh38: Chr1:211479174	RD3		Leber congenital amaurosis 12	Likely benign (Jan 17, 2022)	criteria provided, single submitter
Select item 157843534.	NM_001164688.2(RD3):c.231G>A (p.Glu77=) GRCh37: Chr1:211654527 GRCh38: Chr1:211481185	RD3		Leber congenital amaurosis 12	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 156465035.	NM_001164688.2(RD3):c.369G>A (p.Gln123=) GRCh37: Chr1:211652597 GRCh38: Chr1:211479255	RD3		Leber congenital amaurosis 12	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 154617636.	NM_001164688.2(RD3):c.97C>T (p.Leu33=) GRCh37: Chr1:211654661 GRCh38: Chr1:211481319	RD3		Leber congenital amaurosis 12	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 153128637.	NM_001164688.2(RD3):c.30C>T (p.Asn10=) GRCh37: Chr1:211654728 GRCh38: Chr1:211481386	RD3		Leber congenital amaurosis 12	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 151677938.	NM_001164688.2(RD3):c.149C>A (p.Ala50Glu) GRCh37: Chr1:211654609 GRCh38: Chr1:211481267	RD3	A50E	Leber congenital amaurosis 12	Uncertain significance (Aug 6, 2021)	criteria provided, single submitter
Select item 151231239.	NM_001164688.2(RD3):c.297-3C>G GRCh37: Chr1:211652672 GRCh38: Chr1:211479330	RD3		Leber congenital amaurosis 12	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 150609440.	NM_001164688.2(RD3):c.148G>A (p.Ala50Thr) GRCh37: Chr1:211654610 GRCh38: Chr1:211481268	RD3	A50T	Leber congenital amaurosis 12	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 150194441.	NM_001164688.2(RD3):c.587G>C (p.Ter196Ser) GRCh37: Chr1:211652379 GRCh38: Chr1:211479037	RD3		Leber congenital amaurosis 12	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 149238242.	NM_001164688.2(RD3):c.160G>T (p.Val54Phe) GRCh37: Chr1:211654598 GRCh38: Chr1:211481256	RD3	V54F	Leber congenital amaurosis 12	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 148806243.	NM_001164688.2(RD3):c.560C>A (p.Pro187His) GRCh37: Chr1:211652406 GRCh38: Chr1:211479064	RD3	P187H	Leber congenital amaurosis 12	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 145885944.	NM_001164688.2(RD3):c.13_14del (p.Ser5fs) GRCh37: Chr1:211654744-211654745 GRCh38: Chr1:211481402-211481403	RD3	S5fs	Leber congenital amaurosis 12	Pathogenic (Nov 9, 2021)	criteria provided, single submitter
Select item 143816845.	NM_001164688.2(RD3):c.169G>T (p.Gly57Cys) GRCh37: Chr1:211654589 GRCh38: Chr1:211481247	RD3	G57C	Leber congenital amaurosis 12	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 143809246.	NM_001164688.2(RD3):c.2T>C (p.Met1Thr) GRCh37: Chr1:211654756 GRCh38: Chr1:211481414	RD3	M1T	Leber congenital amaurosis 12	Uncertain significance (Oct 9, 2021)	criteria provided, single submitter
Select item 143498747.	NM_001164688.2(RD3):c.404C>T (p.Ala135Val) GRCh37: Chr1:211652562 GRCh38: Chr1:211479220	RD3	A135V	Leber congenital amaurosis 12	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 143035448.	NM_001164688.2(RD3):c.169G>A (p.Gly57Ser) GRCh37: Chr1:211654589 GRCh38: Chr1:211481247	RD3	G57S	Leber congenital amaurosis 12	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 142504149.	NM_001164688.2(RD3):c.545G>T (p.Arg182Leu) GRCh37: Chr1:211652421 GRCh38: Chr1:211479079	RD3	R182L	Leber congenital amaurosis 12	Uncertain significance (Oct 10, 2021)	criteria provided, single submitter
Select item 140630550.	NM_001164688.2(RD3):c.559C>G (p.Pro187Ala) GRCh37: Chr1:211652407 GRCh38: Chr1:211479065	RD3	P187A	Leber congenital amaurosis 12	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 140372351.	NM_001164688.2(RD3):c.170G>T (p.Gly57Val) GRCh37: Chr1:211654588 GRCh38: Chr1:211481246	RD3	G57V	Leber congenital amaurosis 12	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 139460952.	NM_001164688.2(RD3):c.23G>A (p.Arg8Gln) GRCh37: Chr1:211654735 GRCh38: Chr1:211481393	RD3	R8Q	Leber congenital amaurosis 12	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 138854053.	NM_001164688.2(RD3):c.296+1G>T GRCh37: Chr1:211654461 GRCh38: Chr1:211481119	RD3		Leber congenital amaurosis 12	Pathogenic (Feb 4, 2022)	criteria provided, single submitter
Select item 138152754.	NM_001164688.2(RD3):c.446G>T (p.Ser149Ile) GRCh37: Chr1:211652520 GRCh38: Chr1:211479178	RD3	S149I	Leber congenital amaurosis 12	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 137080755.	NM_001164688.2(RD3):c.206C>T (p.Ser69Phe) GRCh37: Chr1:211654552 GRCh38: Chr1:211481210	RD3	S69F	Leber congenital amaurosis 12	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 136741956.	NM_001164688.2(RD3):c.577A>G (p.Lys193Glu) GRCh37: Chr1:211652389 GRCh38: Chr1:211479047	RD3	K193E	Leber congenital amaurosis 12	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 135607657.	NM_001164688.2(RD3):c.61C>T (p.Pro21Ser) GRCh37: Chr1:211654697 GRCh38: Chr1:211481355	RD3	P21S	Leber congenital amaurosis 12	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 135327858.	NM_001164688.2(RD3):c.365T>G (p.Leu122Arg) GRCh37: Chr1:211652601 GRCh38: Chr1:211479259	RD3	L122R	Leber congenital amaurosis 12	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 135138959.	NM_001164688.2(RD3):c.61C>G (p.Pro21Ala) GRCh37: Chr1:211654697 GRCh38: Chr1:211481355	RD3	P21A	Leber congenital amaurosis 12	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 116909360.	NM_001164688.2(RD3):c.296+18G>A GRCh37: Chr1:211654444 GRCh38: Chr1:211481102	RD3		Leber congenital amaurosis 12	Benign (Nov 1, 2022)	criteria provided, single submitter
Select item 116429661.	NM_001164688.2(RD3):c.296+18del GRCh37: Chr1:211654444 GRCh38: Chr1:211481102	RD3		Leber congenital amaurosis 12	Benign (Sep 24, 2022)	criteria provided, single submitter
Select item 115922062.	NM_001164688.2(RD3):c.417G>A (p.Thr139=) GRCh37: Chr1:211652549 GRCh38: Chr1:211479207	RD3		Leber congenital amaurosis 12	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 115358663.	NM_001164688.2(RD3):c.318G>A (p.Glu106=) GRCh37: Chr1:211652648 GRCh38: Chr1:211479306	RD3		Leber congenital amaurosis 12	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 112786164.	NM_001164688.2(RD3):c.171T>G (p.Gly57=) GRCh37: Chr1:211654587 GRCh38: Chr1:211481245	RD3		Leber congenital amaurosis 12	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 111488465.	NM_001164688.2(RD3):c.540A>G (p.Pro180=) GRCh37: Chr1:211652426 GRCh38: Chr1:211479084	RD3		Leber congenital amaurosis 12	Likely benign (May 24, 2022)	criteria provided, single submitter
Select item 111232166.	NM_001164688.2(RD3):c.492C>T (p.Ser164=) GRCh37: Chr1:211652474 GRCh38: Chr1:211479132	RD3		Leber congenital amaurosis 12	Likely benign (Dec 12, 2019)	criteria provided, single submitter
Select item 110586867.	NM_001164688.2(RD3):c.279T>C (p.Cys93=) GRCh37: Chr1:211654479 GRCh38: Chr1:211481137	RD3		Leber congenital amaurosis 12	Likely benign (Jul 29, 2020)	criteria provided, single submitter
Select item 109140468.	NM_001164688.2(RD3):c.252C>T (p.Val84=) GRCh37: Chr1:211654506 GRCh38: Chr1:211481164	RD3		Leber congenital amaurosis 12	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 109137869.	NM_001164688.2(RD3):c.433C>A (p.Arg145=) GRCh37: Chr1:211652533 GRCh38: Chr1:211479191	RD3		Leber congenital amaurosis 12	Likely benign (Nov 3, 2022)	criteria provided, single submitter
Select item 108495970.	NM_001164688.2(RD3):c.327C>T (p.Pro109=) GRCh37: Chr1:211652639 GRCh38: Chr1:211479297	RD3		Leber congenital amaurosis 12	Likely benign (Jan 23, 2020)	criteria provided, single submitter
Select item 108091471.	NM_001164688.2(RD3):c.327C>G (p.Pro109=) GRCh37: Chr1:211652639 GRCh38: Chr1:211479297	RD3		Leber congenital amaurosis 12	Likely benign (Jun 5, 2020)	criteria provided, single submitter
Select item 106166372.	NM_001164688.2(RD3):c.348G>T (p.Gln116His) GRCh37: Chr1:211652618 GRCh38: Chr1:211479276	RD3	Q116H	Leber congenital amaurosis 12	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 106059273.	NM_001164688.2(RD3):c.284C>T (p.Pro95Leu) GRCh37: Chr1:211654474 GRCh38: Chr1:211481132	RD3	P95L	Leber congenital amaurosis 12	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 105495374.	NM_001164688.2(RD3):c.101C>T (p.Thr34Met) GRCh37: Chr1:211654657 GRCh38: Chr1:211481315	RD3	T34M	Leber congenital amaurosis 12	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 104567575.	NM_001164688.2(RD3):c.355C>T (p.Arg119Cys) GRCh37: Chr1:211652611 GRCh38: Chr1:211479269	RD3	R119C	Leber congenital amaurosis 12	Uncertain significance (Nov 14, 2021)	criteria provided, single submitter
Select item 104535376.	NM_001164688.2(RD3):c.232C>T (p.Arg78Trp) GRCh37: Chr1:211654526 GRCh38: Chr1:211481184	RD3	R78W	Leber congenital amaurosis 12	Uncertain significance (Aug 13, 2022)	criteria provided, single submitter
Select item 104356677.	NM_001164688.2(RD3):c.509C>T (p.Ser170Phe) GRCh37: Chr1:211652457 GRCh38: Chr1:211479115	RD3	S170F	Leber congenital amaurosis 12	Uncertain significance (Oct 28, 2022)	criteria provided, single submitter
Select item 104218178.	NM_001164688.2(RD3):c.43C>T (p.Arg15Trp) GRCh37: Chr1:211654715 GRCh38: Chr1:211481373	RD3	R15W	Inborn genetic diseases, Leber congenital amaurosis 12	Uncertain significance (Jan 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 104208579.	NM_001164688.2(RD3):c.20T>A (p.Leu7His) GRCh37: Chr1:211654738 GRCh38: Chr1:211481396	RD3	L7H	Leber congenital amaurosis 12	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 103615280.	NM_001164688.2(RD3):c.203G>A (p.Arg68Gln) GRCh37: Chr1:211654555 GRCh38: Chr1:211481213	RD3	R68Q	Leber congenital amaurosis 12	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 102652681.	NM_001164688.2(RD3):c.22C>T (p.Arg8Trp) GRCh37: Chr1:211654736 GRCh38: Chr1:211481394	RD3	R8W	Leber congenital amaurosis 12	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 102419882.	NM_001164688.2(RD3):c.65C>A (p.Ala22Asp) GRCh37: Chr1:211654693 GRCh38: Chr1:211481351	RD3	A22D	Leber congenital amaurosis 12	Uncertain significance (Feb 5, 2022)	criteria provided, single submitter
Select item 101370583.	NM_001164688.2(RD3):c.55A>T (p.Arg19Trp) GRCh37: Chr1:211654703 GRCh38: Chr1:211481361	RD3	R19W	Leber congenital amaurosis 12	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 100725684.	NM_001164688.2(RD3):c.325C>T (p.Pro109Ser) GRCh37: Chr1:211652641 GRCh38: Chr1:211479299	RD3	P109S	Leber congenital amaurosis 12	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 100212585.	NM_001164688.2(RD3):c.368A>T (p.Gln123Leu) GRCh37: Chr1:211652598 GRCh38: Chr1:211479256	RD3	Q123L	Leber congenital amaurosis 12	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 100091286.	NM_001164688.2(RD3):c.31G>A (p.Glu11Lys) GRCh37: Chr1:211654727 GRCh38: Chr1:211481385	RD3	E11K	Leber congenital amaurosis 12	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 96343887.	NM_001164688.2(RD3):c.89T>A (p.Met30Lys) GRCh37: Chr1:211654669 GRCh38: Chr1:211481327	RD3	M30K	Leber congenital amaurosis 12	Uncertain significance (Feb 5, 2022)	criteria provided, single submitter
Select item 94342588.	NM_001164688.2(RD3):c.511G>A (p.Glu171Lys) GRCh37: Chr1:211652455 GRCh38: Chr1:211479113	RD3	E171K	Leber congenital amaurosis 12	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 93576589.	NM_001164688.2(RD3):c.140G>A (p.Arg47His) GRCh37: Chr1:211654618 GRCh38: Chr1:211481276	RD3	R47H	Leber congenital amaurosis 12	Uncertain significance (Apr 30, 2022)	criteria provided, single submitter
Select item 87666190.	NM_001164688.2(RD3):c.-296A>C GRCh37: Chr1:211665394 GRCh38: Chr1:211492052	RD3		Leber congenital amaurosis 12	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87662091.	NM_001164688.2(RD3):c.*44G>A GRCh37: Chr1:211652334 GRCh38: Chr1:211478992	RD3		Leber congenital amaurosis 12	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87661992.	NM_001164688.2(RD3):c.*213C>T GRCh37: Chr1:211652165 GRCh38: Chr1:211478823	RD3		Leber congenital amaurosis 12	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 87661893.	NM_001164688.2(RD3):c.*263T>G GRCh37: Chr1:211652115 GRCh38: Chr1:211478773	RD3		Leber congenital amaurosis 12	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87661794.	NM_001164688.2(RD3):c.*330G>C GRCh37: Chr1:211652048 GRCh38: Chr1:211478706	RD3		Leber congenital amaurosis 12	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87656595.	NM_001164688.2(RD3):c.*1712G>A GRCh37: Chr1:211650666 GRCh38: Chr1:211477324	RD3		Leber congenital amaurosis 12	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87656496.	NM_001164688.2(RD3):c.*2007G>A GRCh37: Chr1:211650371 GRCh38: Chr1:211477029	RD3		Leber congenital amaurosis 12	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87571397.	NM_183059.2(RD3):c.-1160T>C GRCh37: Chr1:211666255 GRCh38: Chr1:211492913	RD3		Leber congenital amaurosis 12	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 87571298.	NM_183059.2(RD3):c.-1106G>A GRCh37: Chr1:211666201 GRCh38: Chr1:211492859	RD3		Leber congenital amaurosis 12	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87566599.	NM_001164688.2(RD3):c.-138C>A GRCh37: Chr1:211665236 GRCh38: Chr1:211491894	RD3		Leber congenital amaurosis 12	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 875664100.	NM_001164688.2(RD3):c.-138C>G GRCh37: Chr1:211665236 GRCh38: Chr1:211491894	RD3		Leber congenital amaurosis 12	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter

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