ClinVar for MedGen (Select 18145) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25780311.	NM_000276.4(OCRL):c.1330C>T (p.Leu444Phe) GRCh37: ChrX:128699834 GRCh38: ChrX:129565857	OCRL	L444F, L445F	Lowe syndrome	Likely benign (Sep 5, 2023)	criteria provided, single submitter
Select item 25723892.	NM_000276.4(OCRL):c.1050del (p.Met352fs) GRCh37: ChrX:128696468 GRCh38: ChrX:129562491	OCRL	M352fs, M353fs	Lowe syndrome	Likely pathogenic	criteria provided, single submitter
Select item 25001203.	NM_000276.4(OCRL):c.577_578del (p.Glu193fs) GRCh37: ChrX:128692832-128692833 GRCh38: ChrX:129558855-129558856	OCRL	E193fs, E194fs	Lowe syndrome	Likely pathogenic (Apr 27, 2023)	criteria provided, single submitter
Select item 24433124.	NM_000276.4(OCRL):c.985A>T (p.Arg329Ter) GRCh37: ChrX:128696406 GRCh38: ChrX:129562429	OCRL	R329, R330	Lowe syndrome	Likely pathogenic (Feb 10, 2023)	criteria provided, single submitter
Select item 24315785.	NM_000276.4(OCRL):c.1586C>A (p.Ala529Asp) GRCh37: ChrX:128703360 GRCh38: ChrX:129569383	OCRL	A529D, A530D	Lowe syndrome	Uncertain significance (Sep 16, 2022)	criteria provided, single submitter
Select item 24279476.	NM_000276.4(OCRL):c.1391T>C (p.Val464Ala) GRCh37: ChrX:128701265 GRCh38: ChrX:129567288	OCRL	V464A, V465A	Lowe syndrome	Benign (Aug 19, 2022)	criteria provided, single submitter
Select item 24227877.	NC_000023.10:g.(?_128674417)_(128679034_?)dup GRCh37: ChrX:128674417-128679034	OCRL		Lowe syndrome	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 24227868.	NC_000023.10:g.(?_128674417)_(128975921_?)dup GRCh37: ChrX:128674417-128975921	SASH3, APLN, OCRL, ZDHHC9, XPNPEP2		Lowe syndrome	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 24227859.	NC_000023.10:g.(?_128720959)_(128724247_?)del GRCh37: ChrX:128720959-128724247	OCRL		Lowe syndrome	Pathogenic (Oct 24, 2022)	criteria provided, single submitter
Select item 242278410.	NC_000023.10:g.(?_128699729)_(128701360_?)del GRCh37: ChrX:128699729-128701360	OCRL		Lowe syndrome	Likely pathogenic (Jun 4, 2022)	criteria provided, single submitter
Select item 242278311.	NC_000023.10:g.(?_128674417)_(128674820_?)del GRCh37: ChrX:128674417-128674820	OCRL		Lowe syndrome	Pathogenic (Dec 19, 2021)	criteria provided, single submitter
Select item 242278212.	NC_000023.10:g.(?_128674417)_(128696783_?)del GRCh37: ChrX:128674417-128696783	OCRL		Lowe syndrome	Pathogenic (Oct 24, 2021)	criteria provided, single submitter
Select item 242197713.	NM_000276.4(OCRL):c.723-15C>T GRCh37: ChrX:128694512 GRCh38: ChrX:129560535	OCRL		Lowe syndrome	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 220146614.	NM_000276.4(OCRL):c.1083A>G (p.Arg361=) GRCh37: ChrX:128696602 GRCh38: ChrX:129562625	OCRL		Lowe syndrome	Benign (May 29, 2022)	criteria provided, single submitter
Select item 219957815.	NM_000276.4(OCRL):c.265G>C (p.Asp89His) GRCh37: ChrX:128691328 GRCh38: ChrX:129557351	OCRL	D89H, D90H	Lowe syndrome	Likely benign (Feb 25, 2022)	criteria provided, single submitter
Select item 219716916.	NM_000276.4(OCRL):c.876G>C (p.Val292=) GRCh37: ChrX:128695207 GRCh38: ChrX:129561230	OCRL		Lowe syndrome	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 219709417.	NM_000276.4(OCRL):c.1089A>G (p.Val363=) GRCh37: ChrX:128696608 GRCh38: ChrX:129562631	OCRL		Lowe syndrome	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 219615618.	NM_000276.4(OCRL):c.67C>T (p.Pro23Ser) GRCh37: ChrX:128674748 GRCh38: ChrX:129540771	OCRL	P23S, P24S	Lowe syndrome	Uncertain significance (Jan 19, 2022)	criteria provided, single submitter
Select item 219582319.	NM_000276.4(OCRL):c.864C>T (p.Tyr288=) GRCh37: ChrX:128695195 GRCh38: ChrX:129561218	OCRL		Lowe syndrome	Benign (Mar 21, 2022)	criteria provided, single submitter
Select item 218929720.	NM_000276.4(OCRL):c.1812A>G (p.Lys604=) GRCh37: ChrX:128709972 GRCh38: ChrX:129575995	OCRL		Lowe syndrome	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 217439121.	NM_000276.4(OCRL):c.2487G>A (p.Pro829=) GRCh37: ChrX:128723839 GRCh38: ChrX:129589862	OCRL		Lowe syndrome	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 217413622.	NM_000276.4(OCRL):c.1341C>G (p.Leu447=) GRCh37: ChrX:128699845 GRCh38: ChrX:129565868	OCRL		Lowe syndrome	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 217285923.	NM_000276.4(OCRL):c.39+15G>C GRCh37: ChrX:128674470 GRCh38: ChrX:129540493	OCRL		Lowe syndrome	Likely benign (Feb 6, 2022)	criteria provided, single submitter
Select item 216293724.	NM_000276.4(OCRL):c.405A>G (p.Lys135=) GRCh37: ChrX:128691893 GRCh38: ChrX:129557916	OCRL		Lowe syndrome	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 215814825.	NM_000276.4(OCRL):c.1031T>C (p.Val344Ala) GRCh37: ChrX:128696452 GRCh38: ChrX:129562475	OCRL	V344A, V345A	Lowe syndrome	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 215542426.	NM_000276.4(OCRL):c.12G>C (p.Pro4=) GRCh37: ChrX:128674428 GRCh38: ChrX:129540451	OCRL		Lowe syndrome	Likely benign (Oct 16, 2022)	criteria provided, single submitter
Select item 215505727.	NM_000276.4(OCRL):c.2657G>A (p.Arg886His) GRCh37: ChrX:128724198 GRCh38: ChrX:129590221	OCRL	R886H, R878H, R887H	Lowe syndrome	Uncertain significance (Nov 2, 2022)	criteria provided, single submitter
Select item 214738828.	NM_000276.4(OCRL):c.723-14G>A GRCh37: ChrX:128694513 GRCh38: ChrX:129560536	OCRL		Lowe syndrome	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 214454729.	NM_000276.4(OCRL):c.1320T>C (p.Asn440=) GRCh37: ChrX:128699824 GRCh38: ChrX:129565847	OCRL		Lowe syndrome	Likely benign (Jan 4, 2022)	criteria provided, single submitter
Select item 214033130.	NM_000276.4(OCRL):c.2314C>T (p.Leu772=) GRCh37: ChrX:128722213 GRCh38: ChrX:129588236	OCRL		Lowe syndrome	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 213828731.	NM_000276.4(OCRL):c.39+17A>G GRCh37: ChrX:128674472 GRCh38: ChrX:129540495	OCRL		Lowe syndrome	Likely benign (Apr 30, 2022)	criteria provided, single submitter
Select item 213650532.	NM_000276.4(OCRL):c.15C>G (p.Leu5=) GRCh37: ChrX:128674431 GRCh38: ChrX:129540454	OCRL		Lowe syndrome	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 211623633.	NM_000276.4(OCRL):c.2342-10G>A GRCh37: ChrX:128722853 GRCh38: ChrX:129588876	OCRL		Lowe syndrome	Uncertain significance (May 24, 2022)	criteria provided, single submitter
Select item 211579434.	NM_000276.4(OCRL):c.199+20A>G GRCh37: ChrX:128679034 GRCh38: ChrX:129545057	OCRL		Lowe syndrome	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 211225735.	NM_000276.4(OCRL):c.2553A>G (p.Glu851=) GRCh37: ChrX:128723905 GRCh38: ChrX:129589928	OCRL		Lowe syndrome	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 211110736.	NM_000276.4(OCRL):c.2620A>G (p.Asn874Asp) GRCh37: ChrX:128724161 GRCh38: ChrX:129590184	OCRL	N874D, N866D, N875D	Lowe syndrome	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 210469737.	NM_000276.4(OCRL):c.601A>G (p.Lys201Glu) GRCh37: ChrX:128692857 GRCh38: ChrX:129558880	OCRL	K202E, K201E	Lowe syndrome	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter
Select item 210040038.	NM_000276.4(OCRL):c.2256+12T>C GRCh37: ChrX:128721107 GRCh38: ChrX:129587130	OCRL		Lowe syndrome	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 209510639.	NM_000276.4(OCRL):c.1822dup (p.Ser608fs) GRCh37: ChrX:128709981-128709982 GRCh38: ChrX:129576004-129576005	OCRL	S608fs, S609fs	Lowe syndrome	Pathogenic (Aug 25, 2022)	criteria provided, single submitter
Select item 209365940.	NM_000276.4(OCRL):c.2292G>T (p.Glu764Asp) GRCh37: ChrX:128722191 GRCh38: ChrX:129588214	OCRL	E756D, E765D, E764D	Lowe syndrome	Uncertain significance (Feb 13, 2022)	criteria provided, single submitter
Select item 209111941.	NM_000276.4(OCRL):c.1225T>C (p.Leu409=) GRCh37: ChrX:128696744 GRCh38: ChrX:129562767	OCRL		Lowe syndrome	Likely benign (Jan 19, 2022)	criteria provided, single submitter
Select item 208220542.	NM_000276.4(OCRL):c.17C>G (p.Pro6Arg) GRCh37: ChrX:128674433 GRCh38: ChrX:129540456	OCRL	P6R	Lowe syndrome	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 207508443.	NM_000276.4(OCRL):c.2658T>A (p.Arg886=) GRCh37: ChrX:128724199 GRCh38: ChrX:129590222	OCRL		Lowe syndrome	Benign (Jun 14, 2022)	criteria provided, single submitter
Select item 206745744.	NM_000276.4(OCRL):c.1467-4dup GRCh37: ChrX:128703236-128703237 GRCh38: ChrX:129569259-129569260	OCRL		Lowe syndrome	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 205910945.	NM_000276.4(OCRL):c.2581+15T>G GRCh37: ChrX:128723948 GRCh38: ChrX:129589971	OCRL		Lowe syndrome	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 205762046.	NM_000276.4(OCRL):c.163A>G (p.Ile55Val) GRCh37: ChrX:128678978 GRCh38: ChrX:129545001	OCRL	I56V, I55V	Lowe syndrome	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 205687847.	NM_000276.4(OCRL):c.1128G>T (p.Leu376=) GRCh37: ChrX:128696647 GRCh38: ChrX:129562670	OCRL		Lowe syndrome	Benign (Sep 26, 2022)	criteria provided, single submitter
Select item 205131148.	NM_000276.4(OCRL):c.2151T>G (p.Leu717=) GRCh37: ChrX:128720990 GRCh38: ChrX:129587013	OCRL		Lowe syndrome	Likely benign (Dec 21, 2021)	criteria provided, single submitter
Select item 205125149.	NM_000276.4(OCRL):c.2581G>T (p.Ala861Ser) GRCh37: ChrX:128723933 GRCh38: ChrX:129589956	OCRL	A861S, A853S, A862S	Lowe syndrome	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 205070950.	NM_000276.4(OCRL):c.1926T>C (p.Ser642=) GRCh37: ChrX:128710340 GRCh38: ChrX:129576363	OCRL		Lowe syndrome	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 204885051.	NM_000276.4(OCRL):c.1602+5A>G GRCh37: ChrX:128703381 GRCh38: ChrX:129569404	OCRL		Lowe syndrome	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 204866052.	NM_000276.4(OCRL):c.708C>T (p.Asn236=) GRCh37: ChrX:128692964 GRCh38: ChrX:129558987	OCRL		Lowe syndrome	Likely benign (Dec 19, 2021)	criteria provided, single submitter
Select item 204791853.	NM_000276.4(OCRL):c.1725A>G (p.Glu575=) GRCh37: ChrX:128709885 GRCh38: ChrX:129575908	OCRL		Lowe syndrome	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 204194954.	NM_000276.4(OCRL):c.943C>T (p.Gln315Ter) GRCh37: ChrX:128696364 GRCh38: ChrX:129562387	OCRL	Q316, Q315	Lowe syndrome	Pathogenic (Dec 13, 2021)	criteria provided, single submitter
Select item 204026755.	NM_000276.4(OCRL):c.235A>G (p.Asn79Asp) GRCh37: ChrX:128682575 GRCh38: ChrX:129548598	OCRL	N80D, N79D	Lowe syndrome	Benign (Oct 30, 2022)	criteria provided, single submitter
Select item 203334856.	NM_000276.4(OCRL):c.2313_2316del (p.Cys771fs) GRCh37: ChrX:128722210-128722213 GRCh38: ChrX:129588233-129588236	OCRL	C763fs, C772fs, C771fs	Lowe syndrome	Pathogenic (Sep 29, 2022)	criteria provided, single submitter
Select item 203304557.	NM_000276.4(OCRL):c.1374A>T (p.Thr458=) GRCh37: ChrX:128701248 GRCh38: ChrX:129567271	OCRL		Lowe syndrome	Likely benign (Oct 28, 2022)	criteria provided, single submitter
Select item 203156058.	NM_000276.4(OCRL):c.2256+17del GRCh37: ChrX:128721111 GRCh38: ChrX:129587134	OCRL		Lowe syndrome	Likely benign (Sep 21, 2022)	criteria provided, single submitter
Select item 202769459.	NM_000276.4(OCRL):c.1696G>T (p.Glu566Ter) GRCh37: ChrX:128709210 GRCh38: ChrX:129575233	OCRL	E566, E567	Lowe syndrome	Pathogenic (Sep 16, 2022)	criteria provided, single submitter
Select item 202736060.	NM_000276.4(OCRL):c.1714-18C>T GRCh37: ChrX:128709856 GRCh38: ChrX:129575879	OCRL		Lowe syndrome	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 202266161.	NM_000276.4(OCRL):c.1492T>C (p.Cys498Arg) GRCh37: ChrX:128703266 GRCh38: ChrX:129569289	OCRL	C499R, C498R	Lowe syndrome	Pathogenic (Dec 1, 2021)	criteria provided, single submitter
Select item 201842362.	NM_000276.4(OCRL):c.1712del (p.Glu571fs) GRCh37: ChrX:128709226 GRCh38: ChrX:129575249	OCRL	E572fs, E571fs	Lowe syndrome	Pathogenic (Oct 3, 2022)	criteria provided, single submitter
Select item 201413663.	NM_000276.4(OCRL):c.350-7T>A GRCh37: ChrX:128691831 GRCh38: ChrX:129557854	OCRL		Lowe syndrome	Uncertain significance (Jul 4, 2022)	criteria provided, single submitter
Select item 200836164.	NM_000276.4(OCRL):c.561-8T>G GRCh37: ChrX:128692809 GRCh38: ChrX:129558832	OCRL		Lowe syndrome	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 200682365.	NM_000276.4(OCRL):c.1367A>G (p.Gln456Arg) GRCh37: ChrX:128701241 GRCh38: ChrX:129567264	OCRL	Q456R, Q457R	Lowe syndrome	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 200408666.	NM_000276.4(OCRL):c.671A>G (p.Lys224Arg) GRCh37: ChrX:128692927 GRCh38: ChrX:129558950	OCRL	K224R, K225R	Lowe syndrome	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 200368167.	NM_000276.4(OCRL):c.825-19A>C GRCh37: ChrX:128695137 GRCh38: ChrX:129561160	OCRL		Lowe syndrome	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 200368068.	NM_000276.4(OCRL):c.437C>T (p.Ser146Leu) GRCh37: ChrX:128691925 GRCh38: ChrX:129557948	OCRL	S146L, S147L	Lowe syndrome	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 200255769.	NM_000276.4(OCRL):c.200-3del GRCh37: ChrX:128682537 GRCh38: ChrX:129548560	OCRL		Lowe syndrome	Uncertain significance (Jun 5, 2022)	criteria provided, single submitter
Select item 199765770.	NM_000276.4(OCRL):c.1713+1G>A GRCh37: ChrX:128709228 GRCh38: ChrX:129575251	OCRL		Lowe syndrome	Likely pathogenic (May 21, 2022)	criteria provided, single submitter
Select item 199737571.	NM_000276.4(OCRL):c.179G>A (p.Ser60Asn) GRCh37: ChrX:128678994 GRCh38: ChrX:129545017	OCRL	S61N, S60N	Lowe syndrome	Uncertain significance (Oct 14, 2022)	criteria provided, single submitter
Select item 199686272.	NM_000276.4(OCRL):c.1399A>T (p.Asn467Tyr) GRCh37: ChrX:128701273 GRCh38: ChrX:129567296	OCRL	N467Y, N468Y	Lowe syndrome	Likely benign (May 20, 2022)	criteria provided, single submitter
Select item 199284773.	NM_000276.4(OCRL):c.1356+7A>G GRCh37: ChrX:128699867 GRCh38: ChrX:129565890	OCRL		Lowe syndrome	Likely benign (May 10, 2022)	criteria provided, single submitter
Select item 198480474.	NM_000276.4(OCRL):c.1972G>A (p.Val658Ile) GRCh37: ChrX:128710386 GRCh38: ChrX:129576409	OCRL	V658I, V659I	Lowe syndrome	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 198215475.	NM_000276.4(OCRL):c.587A>C (p.Asn196Thr) GRCh37: ChrX:128692843 GRCh38: ChrX:129558866	OCRL	N196T, N197T	Lowe syndrome	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 197964276.	NM_000276.4(OCRL):c.1245-10dup GRCh37: ChrX:128699732-128699733 GRCh38: ChrX:129565755-129565756	OCRL		Lowe syndrome	Benign (May 13, 2022)	criteria provided, single submitter
Select item 197723277.	NM_000276.4(OCRL):c.2593A>G (p.Thr865Ala) GRCh37: ChrX:128724134 GRCh38: ChrX:129590157	OCRL	T857A, T865A, T866A	Lowe syndrome	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 197377578.	NM_000276.4(OCRL):c.2456G>C (p.Arg819Pro) GRCh37: ChrX:128722977 GRCh38: ChrX:129589000	OCRL	R811P, R820P, R819P	Lowe syndrome	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 197277279.	NM_000276.4(OCRL):c.1631G>A (p.Arg544Gln) GRCh37: ChrX:128709145 GRCh38: ChrX:129575168	OCRL	R545Q, R544Q	Lowe syndrome	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 196994880.	NM_000276.4(OCRL):c.1602+15G>T GRCh37: ChrX:128703391 GRCh38: ChrX:129569414	OCRL		Lowe syndrome	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 196604781.	NM_000276.4(OCRL):c.78G>A (p.Glu26=) GRCh37: ChrX:128674759 GRCh38: ChrX:129540782	OCRL		Lowe syndrome	Likely benign (Sep 25, 2022)	criteria provided, single submitter
Select item 196597582.	NM_000276.4(OCRL):c.574A>G (p.Lys192Glu) GRCh37: ChrX:128692830 GRCh38: ChrX:129558853	OCRL	K192E, K193E	Lowe syndrome	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 196563083.	NM_000276.4(OCRL):c.2341+12G>C GRCh37: ChrX:128722252 GRCh38: ChrX:129588275	OCRL		Lowe syndrome	Benign (Nov 1, 2022)	criteria provided, single submitter
Select item 195328684.	NM_000276.4(OCRL):c.625C>T (p.Leu209Phe) GRCh37: ChrX:128692881 GRCh38: ChrX:129558904	OCRL	L209F, L210F	not provided, Lowe syndrome	Uncertain significance (Aug 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 194755685.	NM_000276.4(OCRL):c.1666A>G (p.Arg556Gly) GRCh37: ChrX:128709180 GRCh38: ChrX:129575203	OCRL	R556G, R557G	Lowe syndrome	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 194534886.	NM_000276.4(OCRL):c.2115+15A>G GRCh37: ChrX:128710544 GRCh38: ChrX:129576567	OCRL		Lowe syndrome	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 194098587.	NM_000276.4(OCRL):c.239-4T>A GRCh37: ChrX:128691298 GRCh38: ChrX:129557321	OCRL		Lowe syndrome	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 193558488.	NM_000276.4(OCRL):c.940-11G>T GRCh37: ChrX:128696350 GRCh38: ChrX:129562373	OCRL		Lowe syndrome	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 192736989.	NM_000276.4(OCRL):c.2469+4G>T GRCh37: ChrX:128722994 GRCh38: ChrX:129589017	OCRL		Lowe syndrome	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 191766690.	NM_000276.4(OCRL):c.238+6T>C GRCh37: ChrX:128682584 GRCh38: ChrX:129548607	OCRL		Lowe syndrome	Uncertain significance (Jul 2, 2022)	criteria provided, single submitter
Select item 191304291.	NM_000276.4(OCRL):c.2429G>A (p.Arg810Gln) GRCh37: ChrX:128722950 GRCh38: ChrX:129588973	OCRL	R802Q, R811Q, R810Q	Lowe syndrome	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 191079692.	NM_000276.4(OCRL):c.183C>T (p.His61=) GRCh37: ChrX:128678998 GRCh38: ChrX:129545021	OCRL		Lowe syndrome	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 190612793.	NM_000276.4(OCRL):c.1467-16G>A GRCh37: ChrX:128703225 GRCh38: ChrX:129569248	OCRL		Lowe syndrome	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 190276494.	NM_000276.4(OCRL):c.119+12C>T GRCh37: ChrX:128674812 GRCh38: ChrX:129540835	OCRL		Lowe syndrome	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 190023795.	NM_000276.4(OCRL):c.560+19C>T GRCh37: ChrX:128692749 GRCh38: ChrX:129558772	OCRL		Lowe syndrome	Likely benign (Aug 4, 2022)	criteria provided, single submitter
Select item 189666996.	NM_000276.4(OCRL):c.1522G>A (p.Val508Ile) GRCh37: ChrX:128703296 GRCh38: ChrX:129569319	OCRL	V509I, V508I	Lowe syndrome	Uncertain significance (May 18, 2022)	criteria provided, single submitter
Select item 187860697.	NM_000276.4(OCRL):c.2051_2055delinsCTA (p.Leu684fs) GRCh37: ChrX:128710465-128710469 GRCh38: ChrX:129576488-129576492	OCRL	L684fs, L685fs	Lowe syndrome	Likely pathogenic	criteria provided, single submitter
Select item 180582798.	NM_000276.4(OCRL):c.2581G>A (p.Ala861Thr) GRCh37: ChrX:128723933 GRCh38: ChrX:129589956	OCRL	A853T, A861T, A862T	Lowe syndrome	Pathogenic (May 26, 2020)	criteria provided, single submitter
Select item 180496999.	NM_000276.4(OCRL):c.1210C>T (p.Gln404Ter) GRCh37: ChrX:128696729 GRCh38: ChrX:129562752	OCRL	Q404, Q405	Lowe syndrome	Pathogenic (May 6, 2021)	criteria provided, single submitter
Select item 1720500100.	NM_000276.4(OCRL):c.946C>G (p.Leu316Val) GRCh37: ChrX:128696367 GRCh38: ChrX:129562390	OCRL	L316V, L317V	Lowe syndrome	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter

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