ClinVar for MedGen (Select 576337) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 1 to 100 of 580

<< First< Prev

Page of 6

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24430761.	NM_001368894.2(PAX6):c.1277_1284dup (p.Ser429fs) GRCh37: Chr11:31811508-31811509 GRCh38: Chr11:31789960-31789961	ELP4, PAX6	S214fs, S279fs, S348fs, S362fs, S415fs, S429fs, S440fs, S454fs, S496fs	Aniridia 1	Pathogenic (Mar 10, 2023)	criteria provided, single submitter
Select item 24430752.	NM_001368894.2(PAX6):c.1018dup (p.Tyr340fs) GRCh37: Chr11:31815041-31815042 GRCh38: Chr11:31793493-31793494	PAX6	Y125fs, Y190fs, Y259fs, Y273fs, Y326fs, Y340fs, Y341fs, Y351fs, Y365fs, Y407fs	Aniridia 1	Pathogenic (Mar 10, 2023)	criteria provided, single submitter
Select item 24420443.	NM_001368894.2(PAX6):c.50_60dup (p.Leu21fs) GRCh37: Chr11:31824332-31824333 GRCh38: Chr11:31802784-31802785	PAX6	L102fs, L21fs, L22fs	Aniridia 1	Likely pathogenic (Jun 30, 2021)	criteria provided, single submitter
Select item 24227964.	NC_000011.9:g.(?_31804921)_(31816356_?)del GRCh37: Chr11:31804921-31816356	ELP4, PAX6		Aniridia 1, Irido-corneo-trabecular dysgenesis	Pathogenic (Jul 19, 2022)	criteria provided, single submitter
Select item 24227955.	NC_000011.9:g.(?_31822233)_(31823148_?)del GRCh37: Chr11:31822233-31823148	PAX6		Aniridia 1, Irido-corneo-trabecular dysgenesis	Pathogenic (Jan 12, 2022)	criteria provided, single submitter
Select item 24227946.	NC_000011.9:g.(?_31814966)_(31816356_?)del GRCh37: Chr11:31814966-31816356	PAX6		Aniridia 1, Irido-corneo-trabecular dysgenesis	Pathogenic (Apr 10, 2022)	criteria provided, single submitter
Select item 24227937.	NC_000011.9:g.(?_31625295)_(31822424_?)del GRCh37: Chr11:31625295-31822424	ELP4, PAX6		Aniridia 1, Irido-corneo-trabecular dysgenesis	Pathogenic (Jan 31, 2022)	criteria provided, single submitter
Select item 24227928.	NC_000011.9:g.(?_31815560)_(31824402_?)del GRCh37: Chr11:31815560-31824402	PAX6		Aniridia 1, Irido-corneo-trabecular dysgenesis	Pathogenic (Oct 21, 2021)	criteria provided, single submitter
Select item 24144879.	NM_001368894.2(PAX6):c.1021A>G (p.Ser341Gly) GRCh37: Chr11:31815039 GRCh38: Chr11:31793491	PAX6	S126G, S191G, S260G, S274G, S327G, S341G, S342G, S352G, S366G, S408G	Aniridia 1, Irido-corneo-trabecular dysgenesis	Uncertain significance (Feb 24, 2022)	criteria provided, single submitter
Select item 241390010.	NM_001368894.2(PAX6):c.601A>T (p.Thr201Ser) GRCh37: Chr11:31816301 GRCh38: Chr11:31794753	PAX6	T120S, T134S, T187S, T201S, T202S, T212S, T226S, T268S, T51S	Aniridia 1, Irido-corneo-trabecular dysgenesis	Uncertain significance (Mar 2, 2022)	criteria provided, single submitter
Select item 219720611.	NM_001368894.2(PAX6):c.399+18A>G GRCh37: Chr11:31823091 GRCh38: Chr11:31801543	PAX6		Aniridia 1, Irido-corneo-trabecular dysgenesis	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 219397112.	NM_001368894.2(PAX6):c.741T>C (p.His247=) GRCh37: Chr11:31815646 GRCh38: Chr11:31794098	PAX6		Aniridia 1, Irido-corneo-trabecular dysgenesis	Likely benign (Apr 6, 2022)	criteria provided, single submitter
Select item 219320713.	NM_001368894.2(PAX6):c.225C>T (p.Tyr75=) GRCh37: Chr11:31823283 GRCh38: Chr11:31801735	PAX6		Aniridia 1, Irido-corneo-trabecular dysgenesis	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 219035214.	NM_001368894.2(PAX6):c.88G>A (p.Val30Ile) GRCh37: Chr11:31824305 GRCh38: Chr11:31802757	PAX6	V111I, V31I, V30I	Irido-corneo-trabecular dysgenesis, Aniridia 1	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 218955515.	NM_001368894.2(PAX6):c.960T>C (p.Val320=) GRCh37: Chr11:31815100 GRCh38: Chr11:31793552	PAX6		Aniridia 1, Irido-corneo-trabecular dysgenesis	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 218919716.	NM_001368894.2(PAX6):c.918C>T (p.Ser306=) GRCh37: Chr11:31815240 GRCh38: Chr11:31793692	PAX6		Aniridia 1, Irido-corneo-trabecular dysgenesis	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 218590717.	NM_001368894.2(PAX6):c.113G>C (p.Arg38Pro) GRCh37: Chr11:31824280 GRCh38: Chr11:31802732	PAX6	R38P, R39P, R119P	Aniridia 1, Irido-corneo-trabecular dysgenesis	Likely pathogenic (Aug 21, 2022)	criteria provided, single submitter
Select item 218429318.	NM_001368894.2(PAX6):c.534G>A (p.Pro178=) GRCh37: Chr11:31822270 GRCh38: Chr11:31800722	PAX6		Irido-corneo-trabecular dysgenesis, Aniridia 1	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 217982919.	NM_001368894.2(PAX6):c.400-18T>G GRCh37: Chr11:31822422 GRCh38: Chr11:31800874	PAX6		Aniridia 1, Irido-corneo-trabecular dysgenesis	Likely benign (Apr 6, 2022)	criteria provided, single submitter
Select item 216792620.	NM_001368894.2(PAX6):c.141+19C>T GRCh37: Chr11:31824233 GRCh38: Chr11:31802685	PAX6	P54S	Irido-corneo-trabecular dysgenesis, Aniridia 1	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 215300621.	NM_001368894.2(PAX6):c.1017C>T (p.Thr339=) GRCh37: Chr11:31815043 GRCh38: Chr11:31793495	PAX6		Aniridia 1, Irido-corneo-trabecular dysgenesis	Likely benign (Oct 26, 2022)	criteria provided, single submitter
Select item 215210522.	NM_001368894.2(PAX6):c.113G>A (p.Arg38Gln) GRCh37: Chr11:31824280 GRCh38: Chr11:31802732	PAX6	R38Q, R119Q, R39Q	Aniridia 1, Irido-corneo-trabecular dysgenesis	Pathogenic (Aug 22, 2022)	criteria provided, single submitter
Select item 214189823.	NM_001368894.2(PAX6):c.1141C>T (p.Arg381Trp) GRCh37: Chr11:31812342 GRCh38: Chr11:31790794	PAX6	R231W, R367W, R406W, R166W, R381W, R300W, R314W, R392W, R448W	Aniridia 1, Irido-corneo-trabecular dysgenesis	Uncertain significance (Aug 28, 2022)	criteria provided, single submitter
Select item 214189324.	NM_001368894.2(PAX6):c.621C>T (p.Asn207=) GRCh37: Chr11:31816281 GRCh38: Chr11:31794733	PAX6		Aniridia 1, Irido-corneo-trabecular dysgenesis	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 214033925.	NM_001368894.2(PAX6):c.808-15C>T GRCh37: Chr11:31815365 GRCh38: Chr11:31793817	PAX6		Aniridia 1, Irido-corneo-trabecular dysgenesis	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 213704726.	NM_001368894.2(PAX6):c.4C>T (p.Gln2Ter) GRCh37: Chr11:31827956 GRCh38: Chr11:31806408	PAX6	Q2*, A35V	Aniridia 1, Irido-corneo-trabecular dysgenesis	Pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 213704627.	NM_001368894.2(PAX6):c.10+1G>A GRCh37: Chr11:31827949 GRCh38: Chr11:31806401	PAX6		Aniridia 1, Irido-corneo-trabecular dysgenesis	Pathogenic (Sep 28, 2022)	criteria provided, single submitter
Select item 213704428.	NM_001368894.2(PAX6):c.114_117dup (p.Cys40fs) GRCh37: Chr11:31824275-31824276 GRCh38: Chr11:31802727-31802728	PAX6	C121fs, C40fs, C41fs	Aniridia 1, Irido-corneo-trabecular dysgenesis	Pathogenic (Apr 28, 2022)	criteria provided, single submitter
Select item 213704229.	NM_001368894.2(PAX6):c.199G>C (p.Val67Leu) GRCh37: Chr11:31823309 GRCh38: Chr11:31801761	PAX6	V67L, V134L, V53L, V68L, V92L, V78L	Aniridia 1, Irido-corneo-trabecular dysgenesis	Likely pathogenic (Jun 5, 2022)	criteria provided, single submitter
Select item 213704130.	NM_001368894.2(PAX6):c.256G>A (p.Gly86Ser) GRCh37: Chr11:31823252 GRCh38: Chr11:31801704	PAX6	G87S, G86S, G111S, G153S, G97S, G72S	Aniridia 1, Irido-corneo-trabecular dysgenesis	Pathogenic (Aug 24, 2022)	criteria provided, single submitter
Select item 213704031.	NM_001368894.2(PAX6):c.319G>T (p.Glu107Ter) GRCh37: Chr11:31823189 GRCh38: Chr11:31801641	PAX6	E132, E118, E107, E108, E174, E93	Aniridia 1, Irido-corneo-trabecular dysgenesis	Pathogenic (Jan 26, 2022)	criteria provided, single submitter
Select item 213703432.	NM_001368894.2(PAX6):c.1001_1002del (p.Thr334fs) GRCh37: Chr11:31815058-31815059 GRCh38: Chr11:31793510-31793511	PAX6	T253fs, T335fs, T359fs, T401fs, T267fs, T320fs, T345fs, T184fs, T334fs, T119fs	Aniridia 1, Irido-corneo-trabecular dysgenesis	Pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 213491133.	NM_001368894.2(PAX6):c.10+5G>T GRCh37: Chr11:31827945 GRCh38: Chr11:31806397	PAX6		Aniridia 1, Irido-corneo-trabecular dysgenesis	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 212972334.	NM_001368894.2(PAX6):c.518G>A (p.Arg173His) GRCh37: Chr11:31822286 GRCh38: Chr11:31800738	PAX6	R106H, R159H, R184H, R173H, R23H, R198H, R92H, R174H, R240H	Aniridia 1, Irido-corneo-trabecular dysgenesis	Uncertain significance (Apr 23, 2022)	criteria provided, single submitter
Select item 212096735.	NM_001368894.2(PAX6):c.478C>G (p.Leu160Val) GRCh37: Chr11:31822326 GRCh38: Chr11:31800778	PAX6	L171V, L79V, L10V, L146V, L160V, L185V, L227V, L161V, L93V	Aniridia 1, Irido-corneo-trabecular dysgenesis	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 211955336.	NM_001368894.2(PAX6):c.-120_-118dup GRCh37: Chr11:31828462-31828463 GRCh38: Chr11:31806914-31806915	PAX6		Aniridia 1, Irido-corneo-trabecular dysgenesis	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 211899537.	NM_001368894.2(PAX6):c.566-1G>T GRCh37: Chr11:31816337 GRCh38: Chr11:31794789	PAX6		Aniridia 1, Irido-corneo-trabecular dysgenesis	Pathogenic (Jun 8, 2022)	criteria provided, single submitter
Select item 211887438.	NM_001368894.2(PAX6):c.1103dup (p.Tyr368Ter) GRCh37: Chr11:31812379-31812380 GRCh38: Chr11:31790831-31790832	PAX6	Y301, Y368, Y435, Y153, Y218, Y287, Y354, Y379, Y393*	Aniridia 1, Irido-corneo-trabecular dysgenesis	Pathogenic (Mar 28, 2022)	criteria provided, single submitter
Select item 211618539.	NM_001368894.2(PAX6):c.807G>A (p.Gln269=) GRCh37: Chr11:31815580 GRCh38: Chr11:31794032	PAX6		Aniridia 1, Irido-corneo-trabecular dysgenesis	Likely pathogenic (Mar 23, 2022)	criteria provided, single submitter
Select item 211354840.	NM_001368894.2(PAX6):c.185T>G (p.Val62Gly) GRCh37: Chr11:31823323 GRCh38: Chr11:31801775	PAX6	V129G, V63G, V48G, V62G, V73G, V87G	Aniridia 1, Irido-corneo-trabecular dysgenesis	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 211174141.	NM_001368894.2(PAX6):c.114del (p.Pro39fs) GRCh37: Chr11:31824279 GRCh38: Chr11:31802731	PAX6	P120fs, P40fs, P39fs	Aniridia 1, Irido-corneo-trabecular dysgenesis	Pathogenic (Mar 14, 2022)	criteria provided, single submitter
Select item 210872942.	NM_001368894.2(PAX6):c.280A>G (p.Thr94Ala) GRCh37: Chr11:31823228 GRCh38: Chr11:31801680	PAX6	T94A, T105A, T80A, T119A, T161A, T95A	Aniridia 1, Irido-corneo-trabecular dysgenesis	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 210633743.	NM_001368894.2(PAX6):c.1074+6T>C GRCh37: Chr11:31814980 GRCh38: Chr11:31793432	PAX6		Aniridia 1, Irido-corneo-trabecular dysgenesis, not provided	Uncertain significance (Jul 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 210633044.	NM_001368894.2(PAX6):c.958+18T>G GRCh37: Chr11:31815182 GRCh38: Chr11:31793634	PAX6		Aniridia 1, Irido-corneo-trabecular dysgenesis	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 210272045.	NM_001368894.2(PAX6):c.808-19del GRCh37: Chr11:31815369 GRCh38: Chr11:31793821	PAX6		Irido-corneo-trabecular dysgenesis, Aniridia 1	Likely benign (Feb 23, 2022)	criteria provided, single submitter
Select item 210018946.	NM_001368894.2(PAX6):c.370G>A (p.Gly124Arg) GRCh37: Chr11:31823138 GRCh38: Chr11:31801590	PAX6	G124R, G125R, G149R, G191R, G110R, G135R	Aniridia 1, Irido-corneo-trabecular dysgenesis	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 210003247.	NM_001368894.2(PAX6):c.115C>G (p.Pro39Ala) GRCh37: Chr11:31824278 GRCh38: Chr11:31802730	PAX6	P39A, P40A, P120A	Aniridia 1, Irido-corneo-trabecular dysgenesis	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 210003148.	NM_001368894.2(PAX6):c.117del (p.Cys40fs) GRCh37: Chr11:31824276 GRCh38: Chr11:31802728	PAX6	C121fs, C41fs, C40fs	Aniridia 1, Irido-corneo-trabecular dysgenesis	Pathogenic (Jun 10, 2022)	criteria provided, single submitter
Select item 209687949.	NM_001368894.2(PAX6):c.724+3G>A GRCh37: Chr11:31816175 GRCh38: Chr11:31794627	PAX6		Aniridia 1, Irido-corneo-trabecular dysgenesis	Uncertain significance (Jun 5, 2022)	criteria provided, single submitter
Select item 209666850.	NM_001368894.2(PAX6):c.1287T>G (p.Ser429=) GRCh37: Chr11:31811506 GRCh38: Chr11:31789958	ELP4, PAX6	L365R, L379R, L380R, L229R, L312R	Irido-corneo-trabecular dysgenesis, Aniridia 1	Likely benign (Feb 11, 2022)	criteria provided, single submitter
Select item 209518951.	NM_001368894.2(PAX6):c.993A>G (p.Arg331=) GRCh37: Chr11:31815067 GRCh38: Chr11:31793519	PAX6		Irido-corneo-trabecular dysgenesis, Aniridia 1	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 208594552.	NM_001368894.2(PAX6):c.1182C>G (p.His394Gln) GRCh37: Chr11:31812301 GRCh38: Chr11:31790753	PAX6	H313Q, H380Q, H461Q, H179Q, H244Q, H394Q, H405Q, H419Q, H327Q	Aniridia 1, Irido-corneo-trabecular dysgenesis	Uncertain significance (Jan 16, 2022)	criteria provided, single submitter
Select item 208433753.	NM_001368894.2(PAX6):c.399+9A>G GRCh37: Chr11:31823100 GRCh38: Chr11:31801552	PAX6		Aniridia 1, Irido-corneo-trabecular dysgenesis	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 207814154.	NM_001368894.2(PAX6):c.1266C>T (p.Pro422=) GRCh37: Chr11:31811527 GRCh38: Chr11:31789979	ELP4, PAX6	P358L, P222L, P373L, P305L, P372L	Aniridia 1, Irido-corneo-trabecular dysgenesis	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 207500755.	NM_001368894.2(PAX6):c.512G>T (p.Gly171Val) GRCh37: Chr11:31822292 GRCh38: Chr11:31800744	PAX6	G104V, G171V, G90V, G182V, G196V, G172V, G157V, G21V, G238V	Aniridia 1, Irido-corneo-trabecular dysgenesis	Uncertain significance (Dec 20, 2021)	criteria provided, single submitter
Select item 207327756.	NM_001368894.2(PAX6):c.141+3G>A GRCh37: Chr11:31824249 GRCh38: Chr11:31802701	PAX6		Aniridia 1, Irido-corneo-trabecular dysgenesis	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 206873857.	NM_001368894.2(PAX6):c.798A>G (p.Ala266=) GRCh37: Chr11:31815589 GRCh38: Chr11:31794041	PAX6		Aniridia 1, Irido-corneo-trabecular dysgenesis	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 206671958.	NM_001368894.2(PAX6):c.339T>C (p.Ala113=) GRCh37: Chr11:31823169 GRCh38: Chr11:31801621	PAX6		Aniridia 1, Irido-corneo-trabecular dysgenesis	Likely benign (Jan 4, 2022)	criteria provided, single submitter
Select item 206476059.	NM_001368894.2(PAX6):c.463G>A (p.Gly155Ser) GRCh37: Chr11:31822341 GRCh38: Chr11:31800793	PAX6	G141S, G156S, G166S, G74S, G5S, G155S, G180S, G222S, G88S	Aniridia 1, Irido-corneo-trabecular dysgenesis	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 206433660.	NM_001368894.2(PAX6):c.492C>T (p.Asn164=) GRCh37: Chr11:31822312 GRCh38: Chr11:31800764	PAX6		Aniridia 1, Irido-corneo-trabecular dysgenesis	Likely benign (Jun 2, 2022)	criteria provided, single submitter
Select item 205895861.	NM_001368894.2(PAX6):c.1154C>T (p.Thr385Ile) GRCh37: Chr11:31812329 GRCh38: Chr11:31790781	PAX6	T318I, T396I, T170I, T235I, T304I, T371I, T385I, T410I, T452I	Irido-corneo-trabecular dysgenesis, Aniridia 1	Uncertain significance (Dec 24, 2021)	criteria provided, single submitter
Select item 205328062.	NM_001368894.2(PAX6):c.939dup (p.Pro314fs) GRCh37: Chr11:31815218-31815219 GRCh38: Chr11:31793670-31793671	PAX6	P247fs, P314fs, P233fs, P315fs, P99fs, P164fs, P300fs, P339fs, P381fs, P325fs	Aniridia 1, Irido-corneo-trabecular dysgenesis	Pathogenic (Dec 22, 2021)	criteria provided, single submitter
Select item 205231663.	NM_001368894.2(PAX6):c.724+16A>G GRCh37: Chr11:31816162 GRCh38: Chr11:31794614	PAX6		Aniridia 1, Irido-corneo-trabecular dysgenesis	Likely benign (Dec 29, 2021)	criteria provided, single submitter
Select item 204731164.	NM_001368894.2(PAX6):c.532_542delinsTCGGTA (p.Pro178fs) GRCh37: Chr11:31822262-31822272 GRCh38: Chr11:31800714-31800724	PAX6	P189fs, P111fs, P164fs, P178fs, P179fs, P203fs, P245fs, P28fs, P97fs	Aniridia 1, Irido-corneo-trabecular dysgenesis	Pathogenic (Dec 18, 2021)	criteria provided, single submitter
Select item 203735265.	NM_001368894.2(PAX6):c.1293C>T (p.Tyr431=) GRCh37: Chr11:31811500 GRCh38: Chr11:31789952	ELP4, PAX6	T314I, T367I, T382I, T231I, T381I	Aniridia 1, Irido-corneo-trabecular dysgenesis	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 203179866.	NM_001368894.2(PAX6):c.27dup (p.Gln10fs) GRCh37: Chr11:31824365-31824366 GRCh38: Chr11:31802817-31802818	PAX6	Q10fs, Q11fs, Q91fs	Aniridia 1, Irido-corneo-trabecular dysgenesis	Pathogenic (Sep 22, 2022)	criteria provided, single submitter
Select item 203079467.	NM_001368894.2(PAX6):c.1225+5G>T GRCh37: Chr11:31812253 GRCh38: Chr11:31790705	PAX6		Aniridia 1, Irido-corneo-trabecular dysgenesis	Likely pathogenic (Sep 16, 2022)	criteria provided, single submitter
Select item 203070768.	NM_001368894.2(PAX6):c.951C>T (p.Thr317=) GRCh37: Chr11:31815207 GRCh38: Chr11:31793659	PAX6		Aniridia 1, Irido-corneo-trabecular dysgenesis	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 202420369.	NM_001368894.2(PAX6):c.359T>C (p.Leu120Ser) GRCh37: Chr11:31823149 GRCh38: Chr11:31801601	PAX6	L131S, L106S, L187S, L120S, L121S, L145S	Aniridia 1, Irido-corneo-trabecular dysgenesis	Pathogenic (Mar 2, 2022)	criteria provided, single submitter
Select item 201894370.	NM_001368894.2(PAX6):c.598_599insCC (p.Asn200fs) GRCh37: Chr11:31816303-31816304 GRCh38: Chr11:31794755-31794756	PAX6	N201fs, N211fs, N225fs, N119fs, N133fs, N267fs, N200fs, N186fs, N50fs	Irido-corneo-trabecular dysgenesis, Aniridia 1	Pathogenic (Jul 22, 2022)	criteria provided, single submitter
Select item 201772171.	NM_001368894.2(PAX6):c.198T>G (p.Cys66Trp) GRCh37: Chr11:31823310 GRCh38: Chr11:31801762	PAX6	C66W, C67W, C133W, C77W, C52W, C91W	Aniridia 1, Irido-corneo-trabecular dysgenesis	Likely pathogenic (Jul 16, 2022)	criteria provided, single submitter
Select item 201694672.	NM_001368894.2(PAX6):c.1029G>T (p.Leu343=) GRCh37: Chr11:31815031 GRCh38: Chr11:31793483	PAX6		Aniridia 1, Irido-corneo-trabecular dysgenesis	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 201376173.	NM_001368894.2(PAX6):c.803dup (p.Gln269fs) GRCh37: Chr11:31815583-31815584 GRCh38: Chr11:31794035-31794036	PAX6	Q202fs, Q269fs, Q280fs, Q188fs, Q255fs, Q336fs, Q270fs, Q54fs, Q119fs, Q294fs	Aniridia 1, Irido-corneo-trabecular dysgenesis	Pathogenic (Jul 3, 2022)	criteria provided, single submitter
Select item 200404374.	NM_001368894.2(PAX6):c.81G>C (p.Gln27His) GRCh37: Chr11:31824312 GRCh38: Chr11:31802764	PAX6	Q108H, Q28H, Q27H	Aniridia 1, Irido-corneo-trabecular dysgenesis	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 200282475.	NM_001368894.2(PAX6):c.684A>T (p.Arg228Ser) GRCh37: Chr11:31816218 GRCh38: Chr11:31794670	PAX6	R239S, R295S, R78S, R147S, R228S, R253S, R161S, R229S, R13S, R214S	Aniridia 1, Irido-corneo-trabecular dysgenesis	Pathogenic (Jun 8, 2022)	criteria provided, single submitter
Select item 200201376.	NM_001368894.2(PAX6):c.724+8_724+9del GRCh37: Chr11:31816169-31816170 GRCh38: Chr11:31794621-31794622	PAX6		Aniridia 1, Irido-corneo-trabecular dysgenesis	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 200003977.	NM_001368894.2(PAX6):c.1074+4A>G GRCh37: Chr11:31814982 GRCh38: Chr11:31793434	PAX6	S346G	Aniridia 1, Irido-corneo-trabecular dysgenesis	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 199911478.	NM_001368894.2(PAX6):c.893dup (p.His298fs) GRCh37: Chr11:31815264-31815265 GRCh38: Chr11:31793716-31793717	PAX6	H299fs, H83fs, H284fs, H309fs, H217fs, H323fs, H365fs, H148fs, H231fs, H298fs	Aniridia 1, Irido-corneo-trabecular dysgenesis	Pathogenic (May 26, 2022)	criteria provided, single submitter
Select item 199751279.	NM_001368894.2(PAX6):c.1074+16G>A GRCh37: Chr11:31814970 GRCh38: Chr11:31793422	PAX6	G350S	Aniridia 1, Irido-corneo-trabecular dysgenesis	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 199704780.	NM_001368894.2(PAX6):c.66_75dup (p.Arg26fs) GRCh37: Chr11:31824317-31824318 GRCh38: Chr11:31802769-31802770	PAX6	R26fs, R107fs, R27fs	Aniridia 1, Irido-corneo-trabecular dysgenesis	Pathogenic (May 20, 2022)	criteria provided, single submitter
Select item 199485681.	NM_001368894.2(PAX6):c.762A>G (p.Arg254=) GRCh37: Chr11:31815625 GRCh38: Chr11:31794077	PAX6		Aniridia 1, Irido-corneo-trabecular dysgenesis	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 199416382.	NM_001368894.2(PAX6):c.337G>A (p.Ala113Thr) GRCh37: Chr11:31823171 GRCh38: Chr11:31801623	PAX6	A113T, A114T, A138T, A180T, A124T, A99T	Irido-corneo-trabecular dysgenesis, Aniridia 1	Likely pathogenic (May 13, 2022)	criteria provided, single submitter
Select item 199336383.	NM_001368894.2(PAX6):c.416G>C (p.Arg139Thr) GRCh37: Chr11:31822388 GRCh38: Chr11:31800840	PAX6	R139T, R206T, R140T, R150T, R125T, R164T, R58T, R72T	Irido-corneo-trabecular dysgenesis, Aniridia 1	Uncertain significance (May 23, 2022)	criteria provided, single submitter
Select item 199329984.	NM_001368894.2(PAX6):c.350G>C (p.Arg117Pro) GRCh37: Chr11:31823158 GRCh38: Chr11:31801610	PAX6	R118P, R128P, R142P, R103P, R117P, R184P	Irido-corneo-trabecular dysgenesis, Aniridia 1	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 198799785.	NM_001368894.2(PAX6):c.10+13G>A GRCh37: Chr11:31827937 GRCh38: Chr11:31806389	PAX6		Irido-corneo-trabecular dysgenesis, Aniridia 1	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 198522386.	NM_001368894.2(PAX6):c.1003G>A (p.Ala335Thr) GRCh37: Chr11:31815057 GRCh38: Chr11:31793509	PAX6	A120T, A335T, A360T, A402T, A185T, A254T, A321T, A336T, A268T, A346T	Aniridia 1, Irido-corneo-trabecular dysgenesis	Likely benign (Nov 30, 2021)	criteria provided, single submitter
Select item 198489387.	NM_001368894.2(PAX6):c.1075-8C>T GRCh37: Chr11:31812416 GRCh38: Chr11:31790868	PAX6		Aniridia 1, Irido-corneo-trabecular dysgenesis	Likely benign (Jul 24, 2022)	criteria provided, single submitter
Select item 198347188.	NM_001368894.2(PAX6):c.1074+8C>T GRCh37: Chr11:31814978 GRCh38: Chr11:31793430	PAX6	A347V	Aniridia 1, Irido-corneo-trabecular dysgenesis	Likely benign (Jan 27, 2022)	criteria provided, single submitter
Select item 198198189.	NM_001368894.2(PAX6):c.1168C>A (p.His390Asn) GRCh37: Chr11:31812315 GRCh38: Chr11:31790767	PAX6	H175N, H323N, H401N, H457N, H240N, H309N, H415N, H376N, H390N	Aniridia 1, Irido-corneo-trabecular dysgenesis	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 197313690.	NM_001368894.2(PAX6):c.958+18T>C GRCh37: Chr11:31815182 GRCh38: Chr11:31793634	PAX6		Aniridia 1, Irido-corneo-trabecular dysgenesis	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 197126991.	NM_001368894.2(PAX6):c.464G>A (p.Gly155Asp) GRCh37: Chr11:31822340 GRCh38: Chr11:31800792	PAX6	G166D, G222D, G155D, G5D, G141D, G156D, G74D, G88D, G180D	Aniridia 1, Irido-corneo-trabecular dysgenesis	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 197080192.	NM_001368894.2(PAX6):c.808-13A>G GRCh37: Chr11:31815363 GRCh38: Chr11:31793815	PAX6		Aniridia 1, Irido-corneo-trabecular dysgenesis	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 194853693.	NM_001368894.2(PAX6):c.279G>A (p.Ala93=) GRCh37: Chr11:31823229 GRCh38: Chr11:31801681	PAX6		Aniridia 1, Irido-corneo-trabecular dysgenesis	Likely benign (Feb 2, 2022)	criteria provided, single submitter
Select item 193208994.	NM_001368894.2(PAX6):c.882C>T (p.Asn294=) GRCh37: Chr11:31815276 GRCh38: Chr11:31793728	PAX6		Irido-corneo-trabecular dysgenesis, Aniridia 1	Likely benign (Apr 5, 2022)	criteria provided, single submitter
Select item 192391095.	NM_001368894.2(PAX6):c.373G>T (p.Val125Phe) GRCh37: Chr11:31823135 GRCh38: Chr11:31801587	PAX6	V125F, V126F, V136F, V111F, V150F, V192F	Aniridia 1, Irido-corneo-trabecular dysgenesis	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 192267796.	NM_001368894.2(PAX6):c.621C>A (p.Asn207Lys) GRCh37: Chr11:31816281 GRCh38: Chr11:31794733	PAX6	N140K, N207K, N218K, N232K, N57K, N126K, N193K, N208K, N274K	Aniridia 1, Irido-corneo-trabecular dysgenesis	Uncertain significance (Dec 11, 2021)	criteria provided, single submitter
Select item 191531997.	NM_001368894.2(PAX6):c.1041C>T (p.Pro347=) GRCh37: Chr11:31815019 GRCh38: Chr11:31793471	PAX6		Aniridia 1, Irido-corneo-trabecular dysgenesis	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 190958098.	NM_001368894.2(PAX6):c.555A>G (p.Gln185=) GRCh37: Chr11:31822249 GRCh38: Chr11:31800701	PAX6		Aniridia 1, Irido-corneo-trabecular dysgenesis	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 190310399.	NM_001368894.2(PAX6):c.651A>G (p.Arg217=) GRCh37: Chr11:31816251 GRCh38: Chr11:31794703	PAX6		Irido-corneo-trabecular dysgenesis, Aniridia 1	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 1809679100.	NM_024426.6(WT1):c.163G>A (p.Ala55Thr) GRCh37: Chr11:32456744 GRCh38: Chr11:32435198	LOC107982234, WT1	A50T, A55T	Wilms tumor 1, Aniridia 1, Meacham syndrome, Nephrotic syndrome, type 4, Drash syndrome, 11p partial monosomy syndrome, Frasier syndrome, Mesothelioma, malignant	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter

<< First< Prev

Page of 6