RPE65[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic - ClinVar - NCBI

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

Result Filters

Search results

Items: 1 to 100 of 186

<< First< Prev

Page of 2

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 9739681.	NM_000329.3(RPE65):c.1596dup (p.Ser533fs) GRCh37: Chr1:68895464-68895465 GRCh38: Chr1:68429781-68429782	RPE65	S533fs	Leber congenital amaurosis 2	Pathogenic	no assertion criteria provided
Select item 14700272.	NM_000329.3(RPE65):c.1590C>A (p.Phe530Leu) GRCh37: Chr1:68895471 GRCh38: Chr1:68429788	RPE65	F530L	Leber congenital amaurosis 2, Retinitis pigmentosa 20	Likely pathogenic (Sep 17, 2021)	criteria provided, single submitter
Select item 8014943.	NM_000329.3(RPE65):c.1583G>T (p.Gly528Val) GRCh37: Chr1:68895478 GRCh38: Chr1:68429795	RPE65	G528V	Leber congenital amaurosis 2	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 131204.	NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp) GRCh37: Chr1:68895518 GRCh38: Chr1:68429835	RPE65	R515W	not provided, Leber congenital amaurosis 2, Retinitis pigmentosa 20	Pathogenic (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13847015.	NM_000329.3(RPE65):c.1501_1505del (p.Tyr501fs) GRCh37: Chr1:68895556-68895560 GRCh38: Chr1:68429873-68429877	RPE65	Y501fs	Retinitis pigmentosa 20, Leber congenital amaurosis 2	Pathogenic (Jun 9, 2022)	criteria provided, single submitter
Select item 20194006.	NM_000329.3(RPE65):c.1459del (p.Val486_Leu487insTer) GRCh37: Chr1:68895602 GRCh38: Chr1:68429919	RPE65		Leber congenital amaurosis 2, Retinitis pigmentosa 20	Pathogenic (Jul 24, 2022)	criteria provided, single submitter
Select item 8132227.	NM_000329.3(RPE65):c.1451G>T (p.Gly484Val) GRCh37: Chr1:68895610 GRCh38: Chr1:68429927	RPE65	G484V	Leber congenital amaurosis	Pathogenic (Jan 9, 2020)	criteria provided, single submitter
Select item 988488.	NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp) GRCh37: Chr1:68895610 GRCh38: Chr1:68429927	RPE65	G484D	Retinitis pigmentosa 20, Leber congenital amaurosis 2, not provided, Leber congenital amaurosis	Likely pathogenic (Jan 31, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13211809.	NM_000329.3(RPE65):c.1451-1G>A GRCh37: Chr1:68895611 GRCh38: Chr1:68429928	RPE65		Retinitis pigmentosa 20, Retinitis pigmentosa 20, Leber congenital amaurosis 2	Pathogenic/Likely pathogenic (Jul 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 121391410.	NM_000329.3(RPE65):c.1451-2del GRCh37: Chr1:68895612 GRCh38: Chr1:68429929	RPE65		Leber congenital amaurosis 2	Pathogenic (Jun 22, 2021)	criteria provided, single submitter
Select item 62337111.	NM_000329.3(RPE65):c.1451-2A>C GRCh37: Chr1:68895612 GRCh38: Chr1:68429929	RPE65		Leber congenital amaurosis 2	Likely pathogenic (Dec 30, 2017)	criteria provided, single submitter
Select item 121391112.	NM_000329.3(RPE65):c.1443del (p.Asp482fs) GRCh37: Chr1:68896755 GRCh38: Chr1:68431072	RPE65	D482fs	Retinitis pigmentosa 20	Pathogenic (Jun 22, 2021)	criteria provided, single submitter
Select item 75079613.	NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly) GRCh37: Chr1:68896768 GRCh38: Chr1:68431085	RPE65	D477G	RPE65-Related Disorders, Neurodevelopmental disorder, Retinitis pigmentosa 20, Leber congenital amaurosis 2, not provided, Retinitis pigmentosa 20, Retinal dystrophy	Pathogenic/Likely pathogenic (Feb 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 9884614.	NM_000329.3(RPE65):c.1418T>A (p.Val473Asp) GRCh37: Chr1:68896780 GRCh38: Chr1:68431097	RPE65	V473D	Leber congenital amaurosis 2, Retinitis pigmentosa 20	Likely pathogenic (Aug 20, 2020)	criteria provided, single submitter
Select item 106604415.	NM_000329.3(RPE65):c.1404_1413del (p.Glu469fs) GRCh37: Chr1:68896785-68896794 GRCh38: Chr1:68431102-68431111	RPE65	E469fs	Retinitis pigmentosa 20, Leber congenital amaurosis 2	Likely pathogenic (Aug 28, 2021)	criteria provided, single submitter
Select item 107075416.	NM_000329.3(RPE65):c.1409C>T (p.Pro470Leu) GRCh37: Chr1:68896789 GRCh38: Chr1:68431106	RPE65	P470L	not provided, Retinitis pigmentosa 20, Leber congenital amaurosis 2	Pathogenic/Likely pathogenic (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 148529917.	NM_000329.3(RPE65):c.1399C>A (p.Pro467Thr) GRCh37: Chr1:68896799 GRCh38: Chr1:68431116	RPE65	P467T	Retinitis pigmentosa 20, Leber congenital amaurosis 2	Likely pathogenic (Jan 23, 2022)	criteria provided, single submitter
Select item 106989818.	NM_000329.3(RPE65):c.1399C>G (p.Pro467Ala) GRCh37: Chr1:68896799 GRCh38: Chr1:68431116	RPE65	P467A	Leber congenital amaurosis 2, Retinitis pigmentosa 20	Pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 56049619.	NM_000329.3(RPE65):c.1399C>T (p.Pro467Ser) GRCh37: Chr1:68896799 GRCh38: Chr1:68431116	RPE65	P467S	Leber congenital amaurosis 2, Retinitis pigmentosa 20	Likely pathogenic (Oct 14, 2021)	criteria provided, single submitter
Select item 200037720.	NM_000329.3(RPE65):c.1398C>A (p.Tyr466Ter) GRCh37: Chr1:68896800 GRCh38: Chr1:68431117	RPE65	Y430, Y466, Y374*	Retinitis pigmentosa 20, Leber congenital amaurosis 2	Pathogenic (May 29, 2022)	criteria provided, single submitter
Select item 9884521.	NM_000329.3(RPE65):c.1384G>T (p.Glu462Ter) GRCh37: Chr1:68896814 GRCh38: Chr1:68431131	RPE65	E462*	Leber congenital amaurosis 2, Retinitis pigmentosa 20, Retinitis pigmentosa 20	Pathogenic/Likely pathogenic (Aug 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87034322.	NM_000329.3(RPE65):c.1380G>A (p.Trp460Ter) GRCh37: Chr1:68896818 GRCh38: Chr1:68431135	RPE65	W460*	not provided, Retinitis pigmentosa 20, Leber congenital amaurosis 2, Leber congenital amaurosis 2	Pathogenic/Likely pathogenic (Jan 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 19098223.	NM_000329.3(RPE65):c.1366del (p.Glu456fs) GRCh37: Chr1:68896832 GRCh38: Chr1:68431149	RPE65	E456fs	not provided, Autosomal recessive retinitis pigmentosa	Pathogenic/Likely pathogenic (Sep 10, 2015)	no assertion criteria provided
Select item 145257524.	NM_000329.3(RPE65):c.1360del (p.Thr454fs) GRCh37: Chr1:68896838 GRCh38: Chr1:68431155	RPE65	T454fs	Retinitis pigmentosa 20, Leber congenital amaurosis 2	Pathogenic (Mar 10, 2022)	criteria provided, single submitter
Select item 37413925.	NM_000329.3(RPE65):c.1338+1G>A GRCh37: Chr1:68896964 GRCh38: Chr1:68431281	RPE65		Leber congenital amaurosis 2, Retinitis pigmentosa 20, Retinitis pigmentosa 20, Abnormality of vision, Abnormal electroretinogram, Retinal degeneration, Congenital blindness	Pathogenic (Oct 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42786426.	NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser) GRCh37: Chr1:68896965 GRCh38: Chr1:68431282	RPE65	R446S	Leber congenital amaurosis, Leber congenital amaurosis 2, Retinitis pigmentosa 20	Pathogenic/Likely pathogenic (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 86642227.	NM_000329.3(RPE65):c.1309C>T (p.Leu437Phe) GRCh37: Chr1:68896994 GRCh38: Chr1:68431311	RPE65	L437F	Retinal dystrophy	Likely pathogenic (Aug 16, 2019)	criteria provided, single submitter
Select item 9883928.	NM_000329.3(RPE65):c.1307G>T (p.Gly436Val) GRCh37: Chr1:68896996 GRCh38: Chr1:68431313	RPE65	G436V	not provided	Likely pathogenic (Oct 23, 2020)	criteria provided, single submitter
Select item 120847629.	NM_000329.3(RPE65):c.1306G>A (p.Gly436Arg) GRCh37: Chr1:68896997 GRCh38: Chr1:68431314	RPE65	G436R	not provided	Likely pathogenic (Apr 19, 2019)	criteria provided, single submitter
Select item 213168830.	NM_000329.3(RPE65):c.1282_1303del (p.Gly428fs) GRCh37: Chr1:68897000-68897021 GRCh38: Chr1:68431317-68431338	RPE65	G428fs	Retinitis pigmentosa 20, Leber congenital amaurosis 2	Pathogenic (Apr 29, 2022)	criteria provided, single submitter
Select item 201394931.	NM_000329.3(RPE65):c.1293C>A (p.Tyr431Ter) GRCh37: Chr1:68897010 GRCh38: Chr1:68431327	RPE65	Y431, Y339, Y395*	Leber congenital amaurosis 2, Retinitis pigmentosa 20	Pathogenic (Jul 4, 2022)	criteria provided, single submitter
Select item 2987332.	NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys) GRCh37: Chr1:68897011 GRCh38: Chr1:68431328	RPE65	Y431C	Leber congenital amaurosis 2, Retinitis pigmentosa 20, not provided	Pathogenic/Likely pathogenic (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 212080533.	NM_000329.3(RPE65):c.1269C>A (p.Tyr423Ter) GRCh37: Chr1:68897034 GRCh38: Chr1:68431351	RPE65	Y423, Y387, Y331*	Retinitis pigmentosa 20, Leber congenital amaurosis 2	Pathogenic (Apr 12, 2022)	criteria provided, single submitter
Select item 9883534.	NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln) GRCh37: Chr1:68897054 GRCh38: Chr1:68431371	RPE65	E417Q	Leber congenital amaurosis 2, Retinitis pigmentosa 20, Retinal dystrophy	Pathogenic/Likely pathogenic (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42162035.	NM_000329.3(RPE65):c.1244C>T (p.Ala415Val) GRCh37: Chr1:68897059 GRCh38: Chr1:68431376	RPE65	A415V	not provided	Likely pathogenic (Jan 5, 2018)	criteria provided, single submitter
Select item 201884536.	NM_000329.3(RPE65):c.1243+1G>C GRCh37: Chr1:68897153 GRCh38: Chr1:68431470	RPE65		Leber congenital amaurosis 2, Retinitis pigmentosa 20	Likely pathogenic (Jul 22, 2022)	criteria provided, single submitter
Select item 106695437.	NM_000329.3(RPE65):c.1243+1G>A GRCh37: Chr1:68897153 GRCh38: Chr1:68431470	RPE65		Retinitis pigmentosa 20, Leber congenital amaurosis 2	Likely pathogenic (Dec 17, 2021)	criteria provided, single submitter
Select item 80149538.	NM_000329.3(RPE65):c.1243G>A (p.Ala415Thr) GRCh37: Chr1:68897154 GRCh38: Chr1:68431471	RPE65	A415T	Retinitis pigmentosa 20, Leber congenital amaurosis 2, Leber congenital amaurosis 2	Pathogenic/Likely pathogenic (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 121391639.	NM_000329.3(RPE65):c.1229C>A (p.Ser410Ter) GRCh37: Chr1:68897168 GRCh38: Chr1:68431485	RPE65	S410*	Retinitis pigmentosa 20	Pathogenic (Jun 22, 2021)	criteria provided, single submitter
Select item 9883440.	NM_000329.3(RPE65):c.1223T>C (p.Leu408Pro) GRCh37: Chr1:68897174 GRCh38: Chr1:68431491	RPE65	L408P	Leber congenital amaurosis 2, Retinitis pigmentosa 20, Leber congenital amaurosis, Leber congenital amaurosis 2	Pathogenic/Likely pathogenic (Dec 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9883141.	NM_000329.3(RPE65):c.1207_1210dup (p.Glu404fs) GRCh37: Chr1:68897186-68897187 GRCh38: Chr1:68431503-68431504	RPE65	E404fs	Leber congenital amaurosis 2, Retinitis pigmentosa 20, not provided	Pathogenic (Mar 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97396442.	NM_000329.3(RPE65):c.1209_1210insCTGG (p.Glu404fs) GRCh37: Chr1:68897187-68897188 GRCh38: Chr1:68431504-68431505	RPE65	E404fs	Leber congenital amaurosis 2	Pathogenic	no assertion criteria provided
Select item 66035943.	NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter) GRCh37: Chr1:68897192 GRCh38: Chr1:68431509	RPE65	W402*	Retinal dystrophy, not provided, Leber congenital amaurosis 2, Retinitis pigmentosa 20, Leber congenital amaurosis 2	Pathogenic/Likely pathogenic (Oct 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97897944.	NM_000329.3(RPE65):c.1129-2A>G GRCh37: Chr1:68897270 GRCh38: Chr1:68431587	RPE65		Autosomal recessive retinitis pigmentosa	Pathogenic (Nov 22, 2016)	no assertion criteria provided
Select item 142932945.	NM_000329.3(RPE65):c.1115dup (p.Leu372fs) GRCh37: Chr1:68903882-68903883 GRCh38: Chr1:68438199-68438200	RPE65	L372fs	Retinitis pigmentosa 20, Leber congenital amaurosis 2	Pathogenic (Aug 17, 2021)	criteria provided, single submitter
Select item 2987046.	NM_000329.3(RPE65):c.1102T>C (p.Tyr368His) GRCh37: Chr1:68903896 GRCh38: Chr1:68438213	RPE65	Y368H	RPE65-Related Disorders, Retinitis pigmentosa 20, Leber congenital amaurosis 2, not provided, Retinitis pigmentosa 20	Pathogenic (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 180313547.	NM_000329.3(RPE65):c.1087C>T (p.Pro363Ser) GRCh37: Chr1:68903911 GRCh38: Chr1:68438228	RPE65	P271S, P327S, P363S	RPE65-related recessive retinopathy	Likely pathogenic (Jan 14, 2022)	criteria provided, single submitter
Select item 1311748.	NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr) GRCh37: Chr1:68903911 GRCh38: Chr1:68438228	RPE65	P363T	Retinitis pigmentosa 20, Leber congenital amaurosis 2, Leber congenital amaurosis 2	Pathogenic (May 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 81275849.	NM_000329.3(RPE65):c.1084C>T (p.Gln362Ter) GRCh37: Chr1:68903914 GRCh38: Chr1:68438231	RPE65	Q362*	Autism, Nystagmus, Rod-cone dystrophy, Global developmental delay, Retinal dystrophy	Pathogenic	no assertion criteria provided
Select item 9882350.	NM_000329.3(RPE65):c.1078G>C (p.Ala360Pro) GRCh37: Chr1:68903920 GRCh38: Chr1:68438237	RPE65	A360P	Leber congenital amaurosis 2, Retinitis pigmentosa 20	Pathogenic (Jul 11, 2022)	criteria provided, single submitter
Select item 59667351.	NM_000329.3(RPE65):c.1067dup (p.Asn356fs) GRCh37: Chr1:68903930-68903931 GRCh38: Chr1:68438247-68438248	RPE65	N356fs	Leber congenital amaurosis, Retinal dystrophy, Leber congenital amaurosis 2, Retinitis pigmentosa 20, not provided	Pathogenic (Jan 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 9882152.	NM_000329.3(RPE65):c.1067del (p.Asn356fs) GRCh37: Chr1:68903931 GRCh38: Chr1:68438248	RPE65	N356fs	RPE65-related recessive retinopathy, Leber congenital amaurosis 2, Leber congenital amaurosis 2, Retinitis pigmentosa 20	Pathogenic (Apr 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145257953.	NM_000329.3(RPE65):c.1059dup (p.Lys354fs) GRCh37: Chr1:68903938-68903939 GRCh38: Chr1:68438255-68438256	RPE65	K354fs	Leber congenital amaurosis 2, Retinitis pigmentosa 20	Pathogenic (Sep 9, 2021)	criteria provided, single submitter
Select item 214993354.	NM_000329.3(RPE65):c.1039C>T (p.Arg347Cys) GRCh37: Chr1:68903959 GRCh38: Chr1:68438276	RPE65	R347C, R255C, R311C	Retinitis pigmentosa 20, Leber congenital amaurosis 2	Pathogenic (Dec 2, 2021)	criteria provided, single submitter
Select item 107211455.	NM_000329.3(RPE65):c.1028T>G (p.Leu343Ter) GRCh37: Chr1:68903970 GRCh38: Chr1:68438287	RPE65	L343*	Leber congenital amaurosis 2, Retinitis pigmentosa 20	Pathogenic (Aug 24, 2021)	criteria provided, single submitter
Select item 1311856.	NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser) GRCh37: Chr1:68903976 GRCh38: Chr1:68438293	RPE65	L341S	Retinitis pigmentosa 20, Leber congenital amaurosis 2, Retinitis pigmentosa 87 with choroidal involvement, Retinitis pigmentosa 20, Leber congenital amaurosis 2, not provided, Leber congenital amaurosis 2	Pathogenic (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80149657.	NM_000329.3(RPE65):c.1004A>T (p.Glu335Val) GRCh37: Chr1:68903994 GRCh38: Chr1:68438311	RPE65	E335V	Leber congenital amaurosis 2	Likely pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 203304158.	NM_000329.3(RPE65):c.999-2A>G GRCh37: Chr1:68904001 GRCh38: Chr1:68438318	RPE65		Retinitis pigmentosa 20, Leber congenital amaurosis 2	Pathogenic (Sep 28, 2022)	criteria provided, single submitter
Select item 146875859.	NM_000329.3(RPE65):c.998+1G>A GRCh37: Chr1:68904624 GRCh38: Chr1:68438941	RPE65		Retinitis pigmentosa 20, Leber congenital amaurosis 2	Pathogenic (Aug 23, 2022)	criteria provided, single submitter
Select item 65883760.	NM_000329.3(RPE65):c.991_993dup (p.Trp331dup) GRCh37: Chr1:68904629-68904630 GRCh38: Chr1:68438946-68438947	RPE65		Retinitis pigmentosa 20, Leber congenital amaurosis 2	Pathogenic (Jun 4, 2022)	criteria provided, single submitter
Select item 97396061.	NM_000329.3(RPE65):c.993G>A (p.Trp331Ter) GRCh37: Chr1:68904630 GRCh38: Chr1:68438947	RPE65	W331*	Leber congenital amaurosis 2, Retinitis pigmentosa 20	Pathogenic (Aug 5, 2022)	criteria provided, single submitter
Select item 170263762.	NM_000329.3(RPE65):c.992G>A (p.Trp331Ter) GRCh37: Chr1:68904631 GRCh38: Chr1:68438948	RPE65	W331*	not provided, Retinitis pigmentosa 20, Leber congenital amaurosis 2	Pathogenic (Aug 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9890463.	NM_000329.3(RPE65):c.989G>A (p.Cys330Tyr) GRCh37: Chr1:68904634 GRCh38: Chr1:68438951	RPE65	C330Y	Leber congenital amaurosis 2, Retinitis pigmentosa 20	Pathogenic (Aug 16, 2022)	criteria provided, single submitter
Select item 207980064.	NM_000329.3(RPE65):c.985del (p.Cys329fs) GRCh37: Chr1:68904638 GRCh38: Chr1:68438955	RPE65	C329fs	Leber congenital amaurosis 2, Retinitis pigmentosa 20	Pathogenic (Mar 28, 2022)	criteria provided, single submitter
Select item 9890265.	NM_000329.3(RPE65):c.962dup (p.Asn321fs) GRCh37: Chr1:68904660-68904661 GRCh38: Chr1:68438977-68438978	RPE65	N321fs	Leber congenital amaurosis 2, Retinitis pigmentosa 20, Retinal dystrophy	Pathogenic (Oct 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9890066.	NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn) GRCh37: Chr1:68904671 GRCh38: Chr1:68438988	RPE65	Y318N	Leber congenital amaurosis 2, Leber congenital amaurosis 2, Retinitis pigmentosa 20	Likely pathogenic (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106908767.	NM_000329.3(RPE65):c.943_950del (p.Ile315fs) GRCh37: Chr1:68904673-68904680 GRCh38: Chr1:68438990-68438997	RPE65	I315fs	Retinitis pigmentosa 20, Leber congenital amaurosis 2	Pathogenic (Jan 30, 2020)	criteria provided, single submitter
Select item 118061668.	NM_000329.3(RPE65):c.938A>C (p.His313Pro) GRCh37: Chr1:68904685 GRCh38: Chr1:68439002	RPE65	H313P	Abnormality of the eye	Likely pathogenic (Jul 10, 2021)	criteria provided, single submitter
Select item 97395969.	NM_000329.3(RPE65):c.923C>T (p.Pro308Leu) GRCh37: Chr1:68904700 GRCh38: Chr1:68439017	RPE65	P308L	Leber congenital amaurosis 2	Likely pathogenic	no assertion criteria provided
Select item 94244870.	NM_000329.3(RPE65):c.917C>T (p.Thr306Ile) GRCh37: Chr1:68904706 GRCh38: Chr1:68439023	RPE65	T306I	Leber congenital amaurosis 2, Retinitis pigmentosa 20	Pathogenic (Jun 27, 2022)	criteria provided, single submitter
Select item 97395871.	NM_000329.3(RPE65):c.914G>T (p.Arg305Ile) GRCh37: Chr1:68904709 GRCh38: Chr1:68439026	RPE65	R305I	Leber congenital amaurosis 2	Likely pathogenic	no assertion criteria provided
Select item 107029772.	NM_000329.3(RPE65):c.912C>G (p.Tyr304Ter) GRCh37: Chr1:68904711 GRCh38: Chr1:68439028	RPE65	Y304*	Leber congenital amaurosis 2, Retinitis pigmentosa 20	Pathogenic (Aug 30, 2021)	criteria provided, single submitter
Select item 2987273.	NM_000329.3(RPE65):c.907A>T (p.Lys303Ter) GRCh37: Chr1:68904716 GRCh38: Chr1:68439033	RPE65	K303*	Retinitis pigmentosa 87 with choroidal involvement, Leber congenital amaurosis 2, Retinitis pigmentosa 20, Leber congenital amaurosis 2, Retinitis pigmentosa 20, not provided	Pathogenic (Mar 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37249374.	NM_000329.3(RPE65):c.893del (p.Lys298fs) GRCh37: Chr1:68904730 GRCh38: Chr1:68439047	RPE65	K298fs	Retinal dystrophy, Leber congenital amaurosis 2, Retinitis pigmentosa 20, not provided	Pathogenic (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107075575.	NM_000329.3(RPE65):c.886dup (p.Arg296fs) GRCh37: Chr1:68904736-68904737 GRCh38: Chr1:68439053-68439054	RPE65	R296fs	Leber congenital amaurosis 2, Retinitis pigmentosa 20	Pathogenic (Aug 21, 2022)	criteria provided, single submitter
Select item 107248376.	NM_000329.3(RPE65):c.886del (p.Arg296fs) GRCh37: Chr1:68904737 GRCh38: Chr1:68439054	RPE65	R296fs	Leber congenital amaurosis 2, Retinitis pigmentosa 20	Pathogenic (Aug 16, 2022)	criteria provided, single submitter
Select item 121391777.	NM_000329.3(RPE65):c.859del GRCh37: Chr1:68904764 GRCh38: Chr1:68439081	RPE65		Leber congenital amaurosis 2	Pathogenic (Jun 22, 2021)	criteria provided, single submitter
Select item 9889578.	NM_000329.3(RPE65):c.859G>T (p.Val287Phe) GRCh37: Chr1:68904764 GRCh38: Chr1:68439081	RPE65	V287F	Leber congenital amaurosis 2	Pathogenic (Apr 21, 2022)	criteria provided, single submitter
Select item 97395779.	NM_000329.3(RPE65):c.843_858+7del GRCh37: Chr1:68904867-68904889 GRCh38: Chr1:68439184-68439206	RPE65		Leber congenital amaurosis 2	Pathogenic	no assertion criteria provided
Select item 9889380.	NM_000329.3(RPE65):c.858+1G>T GRCh37: Chr1:68904873 GRCh38: Chr1:68439190	RPE65		Retinitis pigmentosa 20, Leber congenital amaurosis 2, Leber congenital amaurosis 2	Pathogenic (May 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9889281.	NM_000329.3(RPE65):c.858+1G>A GRCh37: Chr1:68904873 GRCh38: Chr1:68439190	RPE65		Leber congenital amaurosis 2, Retinitis pigmentosa 20	Pathogenic (Feb 4, 2022)	criteria provided, single submitter
Select item 95521982.	NM_000329.3(RPE65):c.829_833del (p.Asp277fs) GRCh37: Chr1:68904899-68904903 GRCh38: Chr1:68439216-68439220	RPE65	D277fs	Retinitis pigmentosa 20, Leber congenital amaurosis 2	Pathogenic (Oct 16, 2019)	criteria provided, single submitter
Select item 58739383.	NM_000329.3(RPE65):c.825C>G (p.Tyr275Ter) GRCh37: Chr1:68904907 GRCh38: Chr1:68439224	RPE65	Y275*	Leber congenital amaurosis 2, Retinitis pigmentosa 20, Retinitis pigmentosa, Congenital isolated adrenocorticotropic hormone deficiency	Pathogenic (Apr 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 121391984.	NM_000329.3(RPE65):c.785_787del (p.Phe262_Lys263delinsTer) GRCh37: Chr1:68904945-68904947 GRCh38: Chr1:68439262-68439264	RPE65		Leber congenital amaurosis 2	Pathogenic (Jun 22, 2021)	criteria provided, single submitter
Select item 107206585.	NM_000329.3(RPE65):c.777dup (p.Asn260Ter) GRCh37: Chr1:68904954-68904955 GRCh38: Chr1:68439271-68439272	RPE65	N260*	Leber congenital amaurosis 2, Retinitis pigmentosa 20	Pathogenic (Feb 27, 2022)	criteria provided, single submitter
Select item 138059886.	NM_000329.3(RPE65):c.775dup (p.Ile259fs) GRCh37: Chr1:68904956-68904957 GRCh38: Chr1:68439273-68439274	RPE65	I259fs	Retinitis pigmentosa 20, Leber congenital amaurosis 2	Pathogenic (Feb 2, 2021)	criteria provided, single submitter
Select item 97396787.	NM_000329.3(RPE65):c.770T>G (p.Val257Gly) GRCh37: Chr1:68904962 GRCh38: Chr1:68439279	RPE65	V257G	Leber congenital amaurosis 2	Likely pathogenic	no assertion criteria provided
Select item 93768188.	NM_000329.3(RPE65):c.746A>G (p.Tyr249Cys) GRCh37: Chr1:68904986 GRCh38: Chr1:68439303	RPE65	Y249C	Retinitis pigmentosa 20, Leber congenital amaurosis 2	Pathogenic (Feb 3, 2022)	criteria provided, single submitter
Select item 95246189.	NM_000329.3(RPE65):c.726-2A>T GRCh37: Chr1:68905008 GRCh38: Chr1:68439325	RPE65		Retinitis pigmentosa 20, Leber congenital amaurosis 2	Pathogenic (Mar 2, 2022)	criteria provided, single submitter
Select item 145763390.	NM_000329.3(RPE65):c.725+2T>A GRCh37: Chr1:68905242 GRCh38: Chr1:68439559	RPE65		Leber congenital amaurosis 2, Retinitis pigmentosa 20	Pathogenic (Aug 25, 2022)	criteria provided, single submitter
Select item 145564191.	NM_000329.3(RPE65):c.725+2T>C GRCh37: Chr1:68905242 GRCh38: Chr1:68439559	RPE65		Leber congenital amaurosis 2, Retinitis pigmentosa 20	Pathogenic (Jun 23, 2021)	criteria provided, single submitter
Select item 145384092.	NM_000329.3(RPE65):c.725+1G>A GRCh37: Chr1:68905243 GRCh38: Chr1:68439560	RPE65		Leber congenital amaurosis 2, Retinitis pigmentosa 20	Pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 81240793.	NM_000329.3(RPE65):c.722A>T (p.His241Leu) GRCh37: Chr1:68905247 GRCh38: Chr1:68439564	RPE65	H241L	Retinitis pigmentosa	Pathogenic (Jun 23, 2019)	no assertion criteria provided
Select item 55952094.	NM_000329.3(RPE65):c.718G>T (p.Val240Phe) GRCh37: Chr1:68905251 GRCh38: Chr1:68439568	RPE65	V240F	Leber congenital amaurosis 2, Retinitis pigmentosa 20, Leber congenital amaurosis	Likely pathogenic (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 214393495.	NM_000329.3(RPE65):c.717C>G (p.Tyr239Ter) GRCh37: Chr1:68905252 GRCh38: Chr1:68439569	RPE65	Y239, Y203, Y147*	Retinitis pigmentosa 20, Leber congenital amaurosis 2	Pathogenic (Oct 3, 2022)	criteria provided, single submitter
Select item 209140196.	NM_000329.3(RPE65):c.716dup (p.Tyr239Ter) GRCh37: Chr1:68905252-68905253 GRCh38: Chr1:68439569-68439570	RPE65	Y239*	Retinitis pigmentosa 20, Leber congenital amaurosis 2	Pathogenic (Sep 13, 2022)	criteria provided, single submitter
Select item 9888997.	NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp) GRCh37: Chr1:68905254 GRCh38: Chr1:68439571	RPE65	Y239D	not provided, Leber congenital amaurosis 2, Retinitis pigmentosa 20	Pathogenic (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97396398.	NM_000329.3(RPE65):c.706A>T (p.Lys236Ter) GRCh37: Chr1:68905263 GRCh38: Chr1:68439580	RPE65	K236*	Leber congenital amaurosis 2, Retinitis pigmentosa 20	Pathogenic (Feb 11, 2020)	criteria provided, single submitter
Select item 1311499.	NM_000329.3(RPE65):c.700C>T (p.Arg234Ter) GRCh37: Chr1:68905269 GRCh38: Chr1:68439586	RPE65	R234*	Retinitis pigmentosa 20, Leber congenital amaurosis 2, Retinitis pigmentosa 20	Pathogenic (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1213913100.	NM_000329.3(RPE65):c.693C>A (p.Cys231Ter) GRCh37: Chr1:68905276 GRCh38: Chr1:68439593	RPE65	C231*	Leber congenital amaurosis 2	Pathogenic (Jun 22, 2021)	criteria provided, single submitter

<< First< Prev

Page of 2