ClinVar for MedGen (Select 388031) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26280201.	NM_001122769.3(LCA5):c.346C>T (p.Gln116Ter) GRCh37: Chr6:80223303 GRCh38: Chr6:79513586	LCA5	Q116*	Leber congenital amaurosis 5	Pathogenic (Jan 1, 2022)	criteria provided, single submitter
Select item 25746612.	NM_181714.4(LCA5):c.1569_1582del (p.His523fs)	LCA5	H523fs	Leber congenital amaurosis 5	Likely pathogenic	no assertion criteria provided
Select item 13232323.	NM_001122769.3(LCA5):c.1062C>A (p.Tyr354Ter) GRCh37: Chr6:80201341 GRCh38: Chr6:79491624	LCA5	Y354*	Leber congenital amaurosis 5	Pathogenic (Jul 18, 2019)	criteria provided, single submitter
Select item 12843404.	NM_001122769.3(LCA5):c.137T>A (p.Val46Asp) GRCh37: Chr6:80228475 GRCh38: Chr6:79518758	LCA5	V46D	Leber congenital amaurosis 5, not provided, Inborn genetic diseases	Uncertain significance (May 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 11727155.	NM_001122769.3(LCA5):c.1368dup (p.Glu457fs) GRCh37: Chr6:80197446-80197447 GRCh38: Chr6:79487729-79487730	LCA5	E457fs	not provided, Leber congenital amaurosis 5	Pathogenic (Apr 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11696616.	NM_001122769.3(LCA5):c.768G>A (p.Gln256=) GRCh37: Chr6:80203420 GRCh38: Chr6:79493703	LCA5		not provided	Benign (Sep 21, 2022)	criteria provided, single submitter
Select item 11598297.	NM_001122769.3(LCA5):c.1242A>G (p.Arg414=) GRCh37: Chr6:80197573 GRCh38: Chr6:79487856	LCA5		not provided	Likely benign (Aug 9, 2021)	criteria provided, single submitter
Select item 10677278.	NM_001122769.3(LCA5):c.859-2A>G GRCh37: Chr6:80202366 GRCh38: Chr6:79492649	LCA5		not provided	Likely pathogenic (Aug 9, 2022)	criteria provided, single submitter
Select item 10549839.	NM_001122769.3(LCA5):c.1990A>G (p.Ser664Gly) GRCh37: Chr6:80196825 GRCh38: Chr6:79487108	LCA5	S664G	not provided	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 105190910.	NM_001122769.3(LCA5):c.1415A>G (p.Asn472Ser) GRCh37: Chr6:80197400 GRCh38: Chr6:79487683	LCA5	N472S	not provided	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 105172911.	NM_001122769.3(LCA5):c.2057C>G (p.Ser686Cys) GRCh37: Chr6:80196758 GRCh38: Chr6:79487041	LCA5	S686C	not provided	Uncertain significance (Feb 5, 2022)	criteria provided, single submitter
Select item 105099312.	NM_001122769.3(LCA5):c.289A>G (p.Thr97Ala) GRCh37: Chr6:80223360 GRCh38: Chr6:79513643	LCA5	T97A	not provided	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 104635413.	NM_001122769.3(LCA5):c.551C>T (p.Ala184Val) GRCh37: Chr6:80223098 GRCh38: Chr6:79513381	LCA5	A184V	not provided	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 104338014.	NM_001122769.3(LCA5):c.1055T>C (p.Met352Thr) GRCh37: Chr6:80201348 GRCh38: Chr6:79491631	LCA5	M352T	not provided	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 103451915.	NM_001122769.3(LCA5):c.664G>C (p.Ala222Pro) GRCh37: Chr6:80222985 GRCh38: Chr6:79513268	LCA5	A222P	not provided, Leber congenital amaurosis 5	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102468816.	NM_001122769.3(LCA5):c.1952A>G (p.His651Arg) GRCh37: Chr6:80196863 GRCh38: Chr6:79487146	LCA5	H651R	not provided	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 102104317.	NM_001122769.3(LCA5):c.1654G>A (p.Ala552Thr) GRCh37: Chr6:80197161 GRCh38: Chr6:79487444	LCA5	A552T	not provided	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 101879518.	NM_001122769.3(LCA5):c.307C>T (p.Arg103Trp) GRCh37: Chr6:80223342 GRCh38: Chr6:79513625	LCA5	R103W	not provided	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 101198019.	NM_001122769.3(LCA5):c.520C>T (p.Arg174Cys) GRCh37: Chr6:80223129 GRCh38: Chr6:79513412	LCA5	R174C	not provided	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 101078220.	NM_001122769.3(LCA5):c.98C>T (p.Ser33Phe) GRCh37: Chr6:80228514 GRCh38: Chr6:79518797	LCA5	S33F	not provided, Inborn genetic diseases	Uncertain significance (Jan 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100536021.	NM_001122769.3(LCA5):c.1523C>T (p.Thr508Ile) GRCh37: Chr6:80197292 GRCh38: Chr6:79487575	LCA5	T508I	not provided	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 100507422.	NM_001122769.3(LCA5):c.186C>G (p.His62Gln) GRCh37: Chr6:80228426 GRCh38: Chr6:79518709	LCA5	H62Q	not provided	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 100200823.	NM_001122769.3(LCA5):c.1085G>T (p.Gly362Val) GRCh37: Chr6:80201318 GRCh38: Chr6:79491601	LCA5	G362V	not provided	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 100038624.	NM_001122769.3(LCA5):c.956-5del GRCh37: Chr6:80201452 GRCh38: Chr6:79491735	LCA5		not provided	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 99936625.	NM_001122769.3(LCA5):c.2047G>C (p.Ala683Pro) GRCh37: Chr6:80196768 GRCh38: Chr6:79487051	LCA5	A683P	not provided	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 97844526.	NM_001122769.3(LCA5):c.1545dup (p.Glu516fs) GRCh37: Chr6:80197269-80197270 GRCh38: Chr6:79487552-79487553	LCA5	E516fs	Leber congenital amaurosis 5	Likely pathogenic	no assertion criteria provided
Select item 97844427.	NM_001122769.3(LCA5):c.1486G>T (p.Glu496Ter) GRCh37: Chr6:80197329 GRCh38: Chr6:79487612	LCA5	E496*	Leber congenital amaurosis 5	Pathogenic	no assertion criteria provided
Select item 97844328.	NM_001122769.3(LCA5):c.1186G>T (p.Glu396Ter) GRCh37: Chr6:80198846 GRCh38: Chr6:79489129	LCA5	E396*	Leber congenital amaurosis 5	Pathogenic	no assertion criteria provided
Select item 97844229.	NM_001122769.3(LCA5):c.858+1G>C GRCh37: Chr6:80203329 GRCh38: Chr6:79493612	LCA5		not provided	Likely pathogenic (Jun 2, 2022)	criteria provided, single submitter
Select item 97844130.	NM_001122769.3(LCA5):c.744_750del (p.Ser249fs) GRCh37: Chr6:80203438-80203444 GRCh38: Chr6:79493721-79493727	LCA5	S249fs	Leber congenital amaurosis	Pathogenic (Jul 24, 2023)	criteria provided, single submitter
Select item 97844031.	NM_001122769.3(LCA5):c.610C>T (p.Gln204Ter) GRCh37: Chr6:80223039 GRCh38: Chr6:79513322	LCA5	Q204*	Leber congenital amaurosis 5	Pathogenic	no assertion criteria provided
Select item 97843932.	NM_001122769.3(LCA5):c.535_536insT (p.Gln179fs) GRCh37: Chr6:80223113-80223114 GRCh38: Chr6:79513396-79513397	LCA5	Q179fs	Leber congenital amaurosis 5	Pathogenic	no assertion criteria provided
Select item 97843833.	NM_001122769.3(LCA5):c.527_529del (p.Arg176del) GRCh37: Chr6:80223120-80223122 GRCh38: Chr6:79513403-79513405	LCA5	R176del	Leber congenital amaurosis 5	Pathogenic	no assertion criteria provided
Select item 97843734.	NM_001122769.3(LCA5):c.395A>G (p.Glu132Gly) GRCh37: Chr6:80223254 GRCh38: Chr6:79513537	LCA5	E132G	Leber congenital amaurosis 5	Likely pathogenic	no assertion criteria provided
Select item 97843635.	NM_001122769.3(LCA5):c.93del (p.Gln31fs) GRCh37: Chr6:80228519 GRCh38: Chr6:79518802	LCA5	Q31fs	Leber congenital amaurosis 5	Pathogenic	no assertion criteria provided
Select item 97186036.	NM_001122769.3(LCA5):c.1581C>G (p.Ile527Met) GRCh37: Chr6:80197234 GRCh38: Chr6:79487517	LCA5	I527M	not provided	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 97050237.	NM_001122769.3(LCA5):c.1157T>G (p.Met386Arg) GRCh37: Chr6:80198875 GRCh38: Chr6:79489158	LCA5	M386R	not provided	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97031838.	NM_001122769.3(LCA5):c.181C>T (p.His61Tyr) GRCh37: Chr6:80228431 GRCh38: Chr6:79518714	LCA5	H61Y	not provided	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 96890339.	NM_001122769.3(LCA5):c.1727T>C (p.Phe576Ser) GRCh37: Chr6:80197088 GRCh38: Chr6:79487371	LCA5	F576S	not provided	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 96800140.	NM_001122769.3(LCA5):c.1366G>A (p.Gly456Arg) GRCh37: Chr6:80197449 GRCh38: Chr6:79487732	LCA5	G456R	not provided	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 96727241.	NM_001122769.3(LCA5):c.685G>C (p.Glu229Gln) GRCh37: Chr6:80222964 GRCh38: Chr6:79513247	LCA5	E229Q	not provided	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 96602142.	NM_001122769.3(LCA5):c.790G>T (p.Ala264Ser) GRCh37: Chr6:80203398 GRCh38: Chr6:79493681	LCA5	A264S	not provided	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 96593843.	NM_001122769.3(LCA5):c.2087T>C (p.Leu696Pro) GRCh37: Chr6:80196728 GRCh38: Chr6:79487011	LCA5	L696P	not provided	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 96466544.	NM_001122769.3(LCA5):c.1424A>G (p.Asp475Gly) GRCh37: Chr6:80197391 GRCh38: Chr6:79487674	LCA5	D475G	not provided	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 96376145.	NM_001122769.3(LCA5):c.839G>A (p.Arg280Gln) GRCh37: Chr6:80203349 GRCh38: Chr6:79493632	LCA5	R280Q	not provided	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 96128546.	NM_001122769.3(LCA5):c.1756A>T (p.Lys586Ter) GRCh37: Chr6:80197059 GRCh38: Chr6:79487342	LCA5	K586*	not provided	Likely pathogenic (Aug 4, 2022)	criteria provided, single submitter
Select item 96051747.	NM_001122769.3(LCA5):c.763C>T (p.Arg255Ter) GRCh37: Chr6:80203425 GRCh38: Chr6:79493708	LCA5	R255*	not provided, Retinitis pigmentosa	Pathogenic (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 95831248.	NM_001122769.3(LCA5):c.497A>G (p.Asn166Ser) GRCh37: Chr6:80223152 GRCh38: Chr6:79513435	LCA5	N166S	not provided, Leber congenital amaurosis 5	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93952649.	NM_001122769.3(LCA5):c.687G>C (p.Glu229Asp) GRCh37: Chr6:80222962 GRCh38: Chr6:79513245	LCA5	E229D	not provided	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 93830050.	NM_001122769.3(LCA5):c.795T>G (p.Tyr265Ter) GRCh37: Chr6:80203393 GRCh38: Chr6:79493676	LCA5	Y265*	not provided, Leber congenital amaurosis 5	Pathogenic (Aug 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91143251.	NM_001122769.3(LCA5):c.19A>G (p.Ser7Gly) GRCh37: Chr6:80228593 GRCh38: Chr6:79518876	LCA5	S7G	Inborn genetic diseases, not provided, Leber congenital amaurosis 5	Uncertain significance (Mar 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91143152.	NM_001122769.3(LCA5):c.108A>G (p.Ser36=) GRCh37: Chr6:80228504 GRCh38: Chr6:79518787	LCA5		not provided, Leber congenital amaurosis 5	Conflicting interpretations of pathogenicity (Jun 9, 2022)	criteria provided, conflicting interpretations
Select item 91136453.	NM_001122769.3(LCA5):c.1787C>T (p.Thr596Ile) GRCh37: Chr6:80197028 GRCh38: Chr6:79487311	LCA5	T596I	not provided, Leber congenital amaurosis 5	Uncertain significance (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91136354.	NM_001122769.3(LCA5):c.1970T>C (p.Phe657Ser) GRCh37: Chr6:80196845 GRCh38: Chr6:79487128	LCA5	F657S	not provided, Leber congenital amaurosis 5	Uncertain significance (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91130455.	NM_001122769.3(LCA5):c.*1103T>C GRCh37: Chr6:80195618 GRCh38: Chr6:79485901	LCA5		Leber congenital amaurosis 5	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91130356.	NM_001122769.3(LCA5):c.*1191T>G GRCh37: Chr6:80195530 GRCh38: Chr6:79485813	LCA5		Leber congenital amaurosis 5	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91130257.	NM_001122769.3(LCA5):c.*1204A>C GRCh37: Chr6:80195517 GRCh38: Chr6:79485800	LCA5		Leber congenital amaurosis 5	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91130158.	NM_001122769.3(LCA5):c.*1232T>G GRCh37: Chr6:80195489 GRCh38: Chr6:79485772	LCA5		Leber congenital amaurosis 5	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91130059.	NM_001122769.3(LCA5):c.*1234A>C GRCh37: Chr6:80195487 GRCh38: Chr6:79485770	LCA5		Leber congenital amaurosis 5	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91123260.	NM_001122769.3(LCA5):c.488G>A (p.Arg163His) GRCh37: Chr6:80223161 GRCh38: Chr6:79513444	LCA5	R163H	Leber congenital amaurosis 5, Inborn genetic diseases, not provided	Uncertain significance (May 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 91123161.	NM_001122769.3(LCA5):c.650A>C (p.Glu217Ala) GRCh37: Chr6:80222999 GRCh38: Chr6:79513282	LCA5	E217A	Leber congenital amaurosis 5, Inborn genetic diseases, not provided	Uncertain significance (Apr 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 91123062.	NM_001122769.3(LCA5):c.859-12G>A GRCh37: Chr6:80202376 GRCh38: Chr6:79492659	LCA5		not provided, Leber congenital amaurosis 5	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 91116563.	NM_001122769.3(LCA5):c.2033A>C (p.Lys678Thr) GRCh37: Chr6:80196782 GRCh38: Chr6:79487065	LCA5	K678T	Leber congenital amaurosis 5	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91116464.	NM_001122769.3(LCA5):c.*29G>T GRCh37: Chr6:80196692 GRCh38: Chr6:79486975	LCA5		Leber congenital amaurosis 5	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91116365.	NM_001122769.3(LCA5):c.*91A>G GRCh37: Chr6:80196630 GRCh38: Chr6:79486913	LCA5		Leber congenital amaurosis 5	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 91116266.	NM_001122769.3(LCA5):c.*344T>C GRCh37: Chr6:80196377 GRCh38: Chr6:79486660	LCA5		Leber congenital amaurosis 5	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91116167.	NM_001122769.3(LCA5):c.*464C>T GRCh37: Chr6:80196257 GRCh38: Chr6:79486540	LCA5		Leber congenital amaurosis 5	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 91109768.	NM_001122769.3(LCA5):c.*1261A>G GRCh37: Chr6:80195460 GRCh38: Chr6:79485743	LCA5		Leber congenital amaurosis 5	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91109669.	NM_001122769.3(LCA5):c.*1292A>G GRCh37: Chr6:80195429 GRCh38: Chr6:79485712	LCA5		Leber congenital amaurosis 5	Benign (Apr 27, 2017)	criteria provided, single submitter
Select item 91109570.	NM_001122769.3(LCA5):c.*1326A>G GRCh37: Chr6:80195395 GRCh38: Chr6:79485678	LCA5		Leber congenital amaurosis 5	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91109471.	NM_001122769.3(LCA5):c.*1385T>C GRCh37: Chr6:80195336 GRCh38: Chr6:79485619	LCA5		Leber congenital amaurosis 5	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91109372.	NM_001122769.3(LCA5):c.*1495G>A GRCh37: Chr6:80195226 GRCh38: Chr6:79485509	LCA5		Leber congenital amaurosis 5	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 91019773.	NM_001122769.3(LCA5):c.*1777T>A GRCh37: Chr6:80194944 GRCh38: Chr6:79485227	LCA5		Leber congenital amaurosis 5	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91019674.	NM_001122769.3(LCA5):c.*1851A>G GRCh37: Chr6:80194870 GRCh38: Chr6:79485153	LCA5		Leber congenital amaurosis 5	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90930075.	NM_001122769.3(LCA5):c.-400G>T GRCh37: Chr6:80247090 GRCh38: Chr6:79537373	LCA5		Leber congenital amaurosis 5	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90929976.	NM_001122769.3(LCA5):c.-398G>T GRCh37: Chr6:80247088 GRCh38: Chr6:79537371	LCA5		Leber congenital amaurosis 5	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90923677.	NM_001122769.3(LCA5):c.1062C>T (p.Tyr354=) GRCh37: Chr6:80201341 GRCh38: Chr6:79491624	LCA5		not provided, Leber congenital amaurosis 5	Conflicting interpretations of pathogenicity (Aug 16, 2022)	criteria provided, conflicting interpretations
Select item 90916678.	NM_001122769.3(LCA5):c.*497G>A GRCh37: Chr6:80196224 GRCh38: Chr6:79486507	LCA5		Leber congenital amaurosis 5	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90916579.	NM_001122769.3(LCA5):c.*617T>C GRCh37: Chr6:80196104 GRCh38: Chr6:79486387	LCA5		Leber congenital amaurosis 5	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90916480.	NM_001122769.3(LCA5):c.*628T>G GRCh37: Chr6:80196093 GRCh38: Chr6:79486376	LCA5		Leber congenital amaurosis 5	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90916381.	NM_001122769.3(LCA5):c.*719A>G GRCh37: Chr6:80196002 GRCh38: Chr6:79486285	LCA5		Leber congenital amaurosis 5	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90916282.	NM_001122769.3(LCA5):c.*763A>G GRCh37: Chr6:80195958 GRCh38: Chr6:79486241	LCA5		Leber congenital amaurosis 5	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90845883.	NM_001122769.3(LCA5):c.-334C>T GRCh37: Chr6:80247024 GRCh38: Chr6:79537307	LCA5		Leber congenital amaurosis 5	Benign (Apr 28, 2017)	criteria provided, single submitter
Select item 90845784.	NM_001122769.3(LCA5):c.-191-6065C>A GRCh37: Chr6:80234867 GRCh38: Chr6:79525150	LCA5		Leber congenital amaurosis 5	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90838785.	NM_001122769.3(LCA5):c.1397T>G (p.Met466Arg) GRCh37: Chr6:80197418 GRCh38: Chr6:79487701	LCA5	M466R	not provided, Leber congenital amaurosis 5	Uncertain significance (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90832086.	NM_001122769.3(LCA5):c.*838C>G GRCh37: Chr6:80195883 GRCh38: Chr6:79486166	LCA5		Leber congenital amaurosis 5	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90831987.	NM_001122769.3(LCA5):c.*892A>G GRCh37: Chr6:80195829 GRCh38: Chr6:79486112	LCA5		Leber congenital amaurosis 5	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90831888.	NM_001122769.3(LCA5):c.*958G>A GRCh37: Chr6:80195763 GRCh38: Chr6:79486046	LCA5		Leber congenital amaurosis 5	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90831789.	NM_001122769.3(LCA5):c.*1002A>G GRCh37: Chr6:80195719 GRCh38: Chr6:79486002	LCA5		Leber congenital amaurosis 5	Uncertain significance (Nov 15, 2017)	criteria provided, single submitter
Select item 86163790.	NM_001122769.3(LCA5):c.2083G>A (p.Ala695Thr) GRCh37: Chr6:80196732 GRCh38: Chr6:79487015	LCA5	A695T	not provided	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 84946691.	NM_001122769.3(LCA5):c.1669G>A (p.Val557Met) GRCh37: Chr6:80197146 GRCh38: Chr6:79487429	LCA5	V557M	not provided	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 84516592.	NM_001122769.3(LCA5):c.1489T>C (p.Ser497Pro) GRCh37: Chr6:80197326 GRCh38: Chr6:79487609	LCA5	S497P	Inborn genetic diseases, not provided	Uncertain significance (Dec 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 84493993.	NM_001122769.3(LCA5):c.1016T>C (p.Phe339Ser) GRCh37: Chr6:80201387 GRCh38: Chr6:79491670	LCA5	F339S	not provided	Uncertain significance (Jul 16, 2022)	criteria provided, single submitter
Select item 84488994.	NM_001122769.3(LCA5):c.1825T>C (p.Phe609Leu) GRCh37: Chr6:80196990 GRCh38: Chr6:79487273	LCA5	F609L	not provided	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 84411495.	NM_001122769.3(LCA5):c.103C>T (p.Arg35Ter) GRCh37: Chr6:80228509 GRCh38: Chr6:79518792	LCA5	R35*	not provided, Leber congenital amaurosis 5	Pathogenic/Likely pathogenic (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 84243296.	NM_001122769.3(LCA5):c.1600G>A (p.Gly534Arg) GRCh37: Chr6:80197215 GRCh38: Chr6:79487498	LCA5	G534R	not provided	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 81118097.	NM_001122769.3(LCA5):c.2006G>A (p.Arg669Lys) GRCh37: Chr6:80196809 GRCh38: Chr6:79487092	LCA5	R669K	not provided, Leber congenital amaurosis 5	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 81109898.	NM_001122769.3(LCA5):c.38A>G (p.Glu13Gly) GRCh37: Chr6:80228574 GRCh38: Chr6:79518857	LCA5	E13G	Inborn genetic diseases, not provided, Leber congenital amaurosis 5	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 81109799.	NM_001122769.3(LCA5):c.511C>T (p.Leu171Phe) GRCh37: Chr6:80223138 GRCh38: Chr6:79513421	LCA5	L171F	not provided, Inborn genetic diseases, Leber congenital amaurosis 5	Uncertain significance (May 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 810630100.	NM_001122769.3(LCA5):c.1062_1068del (p.Cys353_Tyr354insTer) GRCh37: Chr6:80201335-80201341 GRCh38: Chr6:79491618-79491624	LCA5		not provided, Leber congenital amaurosis 5	Pathogenic (Oct 28, 2021)	criteria provided, multiple submitters, no conflicts

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