ClinVar for MedGen (Select 20551) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26280521.	NM_001844.5(COL2A1):c.2162T>C (p.Leu721Pro) GRCh37: Chr12:48376662 GRCh38: Chr12:47982879	COL2A1	L652P, L721P	Retinitis pigmentosa	Uncertain significance (Jan 1, 2023)	criteria provided, single submitter
Select item 26280462.	NM_130837.3(OPA1):c.1976A>T (p.Glu659Val) GRCh37: Chr3:193366624 GRCh38: Chr3:193648835	OPA1	E480V, E481V, E568V, E586V, E604V, E605V, E622V, E623V, E641V, E659V	Retinitis pigmentosa	Uncertain significance (Jan 1, 2022)	criteria provided, single submitter
Select item 25783643.	NM_206933.4(USH2A):c.5020A>T (p.Lys1674Ter) GRCh37: Chr1:216258187 GRCh38: Chr1:216084845	USH2A, USH2A-AS2	K1674*	Retinitis pigmentosa	Pathogenic (Sep 7, 2023)	criteria provided, single submitter
Select item 25775234.	NM_000440.3(PDE6A):c.2327del (p.Phe776fs) GRCh37: Chr5:149245764 GRCh38: Chr5:149866201	PDE6A	F695fs, F776fs	Retinitis pigmentosa	Likely pathogenic (Jul 24, 2023)	criteria provided, single submitter
Select item 25775225.	NM_014249.4(NR2E3):c.316AAG[1] (p.Lys107del) GRCh37: Chr15:72104175-72104177 GRCh38: Chr15:71811835-71811837	NR2E3	K107del	Retinitis pigmentosa	Likely pathogenic (Jul 24, 2023)	criteria provided, single submitter
Select item 25775196.	NM_006343.3(MERTK):c.2209G>T (p.Val737Phe) GRCh37: Chr2:112779018 GRCh38: Chr2:112021441	MERTK	V737F	Retinitis pigmentosa	Likely pathogenic (Jul 24, 2023)	criteria provided, single submitter
Select item 25775187.	NM_016247.4(IMPG2):c.2771A>G (p.Tyr924Cys) GRCh37: Chr3:100962404 GRCh38: Chr3:101243560	IMPG2	Y924C	Retinitis pigmentosa	Uncertain significance (Jul 24, 2023)	criteria provided, single submitter
Select item 25775168.	NM_001201543.2(FAM161A):c.1420del (p.Ala474fs) GRCh37: Chr2:62066719 GRCh38: Chr2:61839584	FAM161A	A474fs	Retinitis pigmentosa	Likely pathogenic (Jul 24, 2023)	criteria provided, single submitter
Select item 25775159.	NM_001142800.2(EYS):c.7228G>A (p.Ala2410Thr) GRCh37: Chr6:64574079 GRCh38: Chr6:63864186	EYS	A2410T	Retinitis pigmentosa	Likely pathogenic (Jul 24, 2023)	criteria provided, single submitter
Select item 257751410.	NM_001142800.2:c.6425-7585_7056-7439dup	EYS		Retinitis pigmentosa	Likely pathogenic (Jul 24, 2023)	criteria provided, single submitter
Select item 257751311.	NM_001142800.2(EYS):c.4100C>A (p.Ser1367Ter) GRCh37: Chr6:65301660 GRCh38: Chr6:64591767	EYS	S1367*	Retinitis pigmentosa	Likely pathogenic (Jul 24, 2023)	criteria provided, single submitter
Select item 257751212.	NM_001142800.2:c.2024-5718_2260-10064del	EYS		Retinitis pigmentosa	Pathogenic (Jul 24, 2023)	criteria provided, single submitter
Select item 257751013.	NM_001297.5(CNGB1):c.2567_2568del (p.Leu855_Phe856insTer) GRCh37: Chr16:57938704-57938705 GRCh38: Chr16:57904800-57904801	CNGB1		Retinitis pigmentosa	Likely pathogenic (Jul 24, 2023)	criteria provided, single submitter
Select item 257750914.	NM_001297.5:c.1536-3071_2634+31dup	CNGB1		Retinitis pigmentosa	Likely pathogenic (Jul 24, 2023)	criteria provided, single submitter
Select item 257750315.	NM_012106.4(ARL2BP):c.33_36del (p.Phe13fs) GRCh37: Chr16:57279310-57279313 GRCh38: Chr16:57245398-57245401	ARL2BP	F13fs	Retinitis pigmentosa	Pathogenic (Jul 24, 2023)	criteria provided, single submitter
Select item 257749916.	NM_003322.6(TULP1):c.415dup (p.Ile139fs) GRCh37: Chr6:35478721-35478722 GRCh38: Chr6:35510944-35510945	TULP1	I139fs, I86fs	Retinitis pigmentosa	Likely pathogenic (Jul 24, 2023)	criteria provided, single submitter
Select item 257749617.	NM_014014.5(SNRNP200):c.3454C>T (p.Arg1152Cys) GRCh37: Chr2:96953207 GRCh38: Chr2:96287469	SNRNP200	R1152C	Retinitis pigmentosa	Uncertain significance (Jul 24, 2023)	criteria provided, single submitter
Select item 257749518.	NM_001034853.2(RPGR):c.2567_2568del (p.Gly856fs) GRCh37: ChrX:38145684-38145685 GRCh38: ChrX:38286431-38286432	RPGR	G856fs	Retinitis pigmentosa	Likely pathogenic (Jul 24, 2023)	criteria provided, single submitter
Select item 257749419.	NM_001034853.2(RPGR):c.2357_2375del (p.Lys786fs) GRCh37: ChrX:38145877-38145895 GRCh38: ChrX:38286624-38286642	RPGR	K786fs	Retinitis pigmentosa	Likely pathogenic (Jul 24, 2023)	criteria provided, single submitter
Select item 257749320.	NM_001034853.2(RPGR):c.2064del (p.Arg688fs) GRCh37: ChrX:38146188 GRCh38: ChrX:38286935	RPGR	R688fs	Retinitis pigmentosa	Likely pathogenic (Jul 24, 2023)	criteria provided, single submitter
Select item 257749221.	NM_006915.3(RP2):c.276_277delinsA (p.Phe92fs) GRCh37: ChrX:46713084-46713085 GRCh38: ChrX:46853649-46853650	RP2	F92fs	Retinitis pigmentosa	Likely pathogenic (Jul 24, 2023)	criteria provided, single submitter
Select item 257749122.	NM_006915.3(RP2):c.225del (p.Phe75fs) GRCh37: ChrX:46713029 GRCh38: ChrX:46853594	RP2	F75fs	Retinitis pigmentosa	Likely pathogenic (Jul 24, 2023)	criteria provided, single submitter
Select item 257160023.	NM_015629.4(PRPF31):c.652_655dup (p.Leu219fs) GRCh37: Chr19:54627249-54627250 GRCh38: Chr19:54123870-54123871	PRPF31, PRPF31-AS1	L219fs	Retinitis pigmentosa	Pathogenic (Jul 11, 2023)	criteria provided, single submitter
Select item 250639624.	NM_001142800.2(EYS):c.5098A>T (p.Lys1700Ter) GRCh37: Chr6:65300662 GRCh38: Chr6:64590769	EYS	K1700*	Retinitis pigmentosa	Pathogenic (Jun 22, 2023)	criteria provided, single submitter
Select item 250180925.	NM_000539.3(RHO):c.888G>T (p.Lys296Asn) GRCh37: Chr3:129251567 GRCh38: Chr3:129532724	RHO	K296N	Retinitis pigmentosa	Likely pathogenic (May 16, 2023)	criteria provided, single submitter
Select item 250109726.	NM_201548.5(CERKL):c.1366-2A>G GRCh37: Chr2:182403993 GRCh38: Chr2:181539266	CERKL		Retinitis pigmentosa	Likely pathogenic (Mar 1, 2023)	criteria provided, single submitter
Select item 250106627.	NM_000326.5(RLBP1):c.451C>T (p.Arg151Trp) GRCh37: Chr15:89758365 GRCh38: Chr15:89215134	RLBP1	R151W	Retinitis pigmentosa	Likely pathogenic (Mar 14, 2023)	criteria provided, single submitter
Select item 242917328.	NC_000006.11:g.(64709077_64776230)_(64791896_64940484)del GRCh37: Chr6:64709077-64940484	EYS		Retinitis pigmentosa	Pathogenic (Jan 12, 2023)	criteria provided, single submitter
Select item 220349029.	NM_000283.4(PDE6B):c.1568T>G (p.Met523Arg) GRCh37: Chr4:654356 GRCh38: Chr4:660567	PDE6B	M244R, M523R, M138R	not provided, Retinitis pigmentosa	Conflicting interpretations of pathogenicity (Jul 24, 2023)	criteria provided, conflicting interpretations
Select item 213642430.	NM_001142800.2(EYS):c.9182_9185del (p.Asn3061fs) GRCh37: Chr6:64430742-64430745 GRCh38: Chr6:63720846-63720849	EYS, PHF3	N3061fs, N3082fs	not provided, Retinitis pigmentosa	Pathogenic (May 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 192951631.	NM_001077620.3(PRCD):c.102_111dup (p.Ser38Ter) GRCh37: Chr17:74536605-74536606 GRCh38: Chr17:76540523-76540524	CYGB, PRCD	S38*	not provided, Retinitis pigmentosa	Conflicting interpretations of pathogenicity (Jul 24, 2023)	criteria provided, conflicting interpretations
Select item 187838032.	NM_001242957.3(MAK):c.393dup (p.Leu132fs) GRCh37: Chr6:10809140-10809141 GRCh38: Chr6:10808907-10808908	MAK	L132fs, L98fs	Retinitis pigmentosa	Likely pathogenic (Dec 24, 2022)	criteria provided, single submitter
Select item 180472233.	NC_000006.11:g.(10804125_10809042)_(10809176_10813876)del GRCh37: Chr6:10804125-10813876	MAK		Retinitis pigmentosa	Likely pathogenic (Nov 16, 2022)	criteria provided, single submitter
Select item 180471734.	NC_000006.11:g.(66094394_66112370)_(66115261_66200486)del GRCh37: Chr6:66094394-66200486	EYS		Retinitis pigmentosa	Likely pathogenic (Nov 21, 2022)	criteria provided, single submitter
Select item 180471635.	NC_000006.11:g.(64574252_64694275)_(64791896_64940484)dup GRCh37: Chr6:64574252-64940484	EYS		Retinitis pigmentosa	Likely pathogenic (Nov 14, 2022)	criteria provided, single submitter
Select item 180319836.	NM_001563.4(IMPG1):c.742A>C (p.Lys248Gln) GRCh37: Chr6:76728500 GRCh38: Chr6:76018783	IMPG1	K170Q, K248Q	Retinitis pigmentosa	Uncertain significance (Aug 12, 2020)	criteria provided, single submitter
Select item 172339537.	NM_014714.4(IFT140):c.1155+1G>A GRCh37: Chr16:1636130 GRCh38: Chr16:1586129	IFT140, LOC105371046		Retinitis pigmentosa	Likely pathogenic (Oct 3, 2022)	criteria provided, single submitter
Select item 172332138.	NM_201548.5(CERKL):c.568del (p.Val190fs) GRCh37: Chr2:182438525 GRCh38: Chr2:181573798	CERKL	V190fs	Retinitis pigmentosa	Likely pathogenic (Oct 15, 2022)	criteria provided, single submitter
Select item 170520139.	NM_001201543.2(FAM161A):c.378del (p.Gln127fs) GRCh37: Chr2:62069301 GRCh38: Chr2:61842166	FAM161A	Q127fs	Retinitis pigmentosa	Likely pathogenic (Aug 25, 2022)	criteria provided, single submitter
Select item 170451540.	NM_001142800.2(EYS):c.8541T>A (p.Cys2847Ter) GRCh37: Chr6:64431386 GRCh38: Chr6:63721490	EYS, PHF3	C2868, C2847	Retinitis pigmentosa	Likely pathogenic (Jul 30, 2022)	criteria provided, single submitter
Select item 169866741.	NC_000006.11:g.(65612394_65622376)_(65767621_66005755)del GRCh37: Chr6:65612394-66005755	EYS		Retinitis pigmentosa	Likely pathogenic (Jun 30, 2022)	criteria provided, single submitter
Select item 169860642.	NC_000006.11:g.(65707597_65767506)_(65767621_66005755)del GRCh37: Chr6:65707597-66005755	EYS		Retinitis pigmentosa	Likely pathogenic (Jun 21, 2022)	criteria provided, single submitter
Select item 169617243.	NC_000006.11:g.(65596736_65612005)_(65655808_65707474)del GRCh37: Chr6:65596736-65707474	EYS		Retinitis pigmentosa	Pathogenic (May 25, 2022)	criteria provided, single submitter
Select item 168328544.	NC_000006.11:g.(66115261_66200486)_(66205887_66349670)del GRCh37: Chr6:66115261-66349670	EYS		Retinitis pigmentosa	Likely pathogenic (Apr 26, 2022)	criteria provided, single submitter
Select item 168328445.	NM_001142800.2(EYS):c.8628dup (p.Thr2877fs) GRCh37: Chr6:64431298-64431299 GRCh38: Chr6:63721402-63721403	EYS, PHF3	T2877fs, T2898fs	Retinitis pigmentosa	Likely pathogenic (Apr 15, 2022)	criteria provided, single submitter
Select item 168115446.	NM_177965.4(CFAP418):c.65T>C (p.Leu22Pro) GRCh37: Chr8:96281353 GRCh38: Chr8:95269125	CFAP418, CFAP418-AS1, LOC130000784	L22P	not provided, Bardet-biedl syndrome 21, Cone-rod dystrophy 16, Retinitis pigmentosa	Uncertain significance (Mar 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 168115347.	NM_177965.4(CFAP418):c.82G>A (p.Glu28Lys) GRCh37: Chr8:96281336 GRCh38: Chr8:95269108	CFAP418, CFAP418-AS1, LOC130000784	E28K	Bardet-biedl syndrome 21, Cone-rod dystrophy 16, Retinitis pigmentosa, not provided	Uncertain significance (Jul 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 168114448.	NM_177965.4(CFAP418):c.155+20T>G GRCh37: Chr8:96281243 GRCh38: Chr8:95269015	CFAP418, CFAP418-AS1, LOC130000784		not provided, Bardet-biedl syndrome 21, Cone-rod dystrophy 16, Retinitis pigmentosa	Benign/Likely benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 168113349.	NM_177965.4(CFAP418):c.254C>T (p.Ser85Phe) GRCh37: Chr8:96272750 GRCh38: Chr8:95260522	CFAP418	S85F	CFAP418-related condition, not provided, Bardet-biedl syndrome 21, Cone-rod dystrophy 16, Retinitis pigmentosa	Uncertain significance (Dec 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 168112850.	NM_177965.4(CFAP418):c.331G>A (p.Gly111Arg) GRCh37: Chr8:96272111 GRCh38: Chr8:95259883	CFAP418	G111R	Bardet-biedl syndrome 21, Retinitis pigmentosa, Cone-rod dystrophy 16, not provided	Uncertain significance (Aug 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 168112551.	NM_177965.4(CFAP418):c.375-16T>A GRCh37: Chr8:96264527 GRCh38: Chr8:95252299	CFAP418		Bardet-biedl syndrome 21, Cone-rod dystrophy 16, Retinitis pigmentosa, not provided	Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 168112252.	NM_177965.4(CFAP418):c.414G>A (p.Leu138=) GRCh37: Chr8:96264472 GRCh38: Chr8:95252244	CFAP418		not provided, Bardet-biedl syndrome 21, Cone-rod dystrophy 16, Retinitis pigmentosa	Conflicting interpretations of pathogenicity (Aug 10, 2022)	criteria provided, conflicting interpretations
Select item 168112153.	NM_177965.4(CFAP418):c.422G>A (p.Ser141Asn) GRCh37: Chr8:96264464 GRCh38: Chr8:95252236	CFAP418	S141N	not provided, Bardet-biedl syndrome 21, Cone-rod dystrophy 16, Retinitis pigmentosa	Uncertain significance (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 168112054.	NM_177965.4(CFAP418):c.449C>G (p.Ser150Trp) GRCh37: Chr8:96264437 GRCh38: Chr8:95252209	CFAP418	S150W	not provided, Bardet-biedl syndrome 21, Cone-rod dystrophy 16, Retinitis pigmentosa	Uncertain significance (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 168111755.	NM_177965.4(CFAP418):c.530G>A (p.Arg177Gln) GRCh37: Chr8:96259939 GRCh38: Chr8:95247711	CFAP418	R145Q, R177Q	Bardet-biedl syndrome 21, Retinitis pigmentosa, Cone-rod dystrophy 16, not provided	Uncertain significance (Apr 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 168111656.	NM_177965.4(CFAP418):c.556A>G (p.Arg186Gly) GRCh37: Chr8:96259913 GRCh38: Chr8:95247685	CFAP418	R154G, R186G	not provided, Bardet-biedl syndrome 21, Cone-rod dystrophy 16, Retinitis pigmentosa	Uncertain significance (Aug 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 168111457.	NM_177965.4(CFAP418):c.602G>C (p.Arg201Pro) GRCh37: Chr8:96259867 GRCh38: Chr8:95247639	CFAP418	R169P, R201P	not provided, Bardet-biedl syndrome 21, Cone-rod dystrophy 16, Retinitis pigmentosa	Uncertain significance (Feb 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167718458.	NC_000006.11:g.(65336139_65523270)_(65707597_65767506)del GRCh37: Chr6:65336139-65767506	EYS		Retinitis pigmentosa	Pathogenic (Mar 24, 2022)	criteria provided, single submitter
Select item 167704259.	NC_000006.11:g.(64776385_64791748)_(64791896_64940484)del GRCh37: Chr6:64776385-64940484	EYS		Retinitis pigmentosa	Pathogenic (Mar 8, 2022)	criteria provided, single submitter
Select item 151716460.	NM_001278293.3(ARL6):c.143T>A (p.Leu48His) GRCh37: Chr3:97499022 GRCh38: Chr3:97780178	ARL6	L48H	Retinitis pigmentosa 55, Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 3, Retinitis pigmentosa, Retinitis pigmentosa 55, Bardet-Biedl syndrome 3	Uncertain significance (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 150011761.	NM_001142800.2(EYS):c.9019G>T (p.Asp3007Tyr) GRCh37: Chr6:64430908 GRCh38: Chr6:63721012	PHF3, EYS	D3028Y, D3007Y	not provided, Retinitis pigmentosa 25, Retinitis pigmentosa	Pathogenic/Likely pathogenic (Dec 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 149212962.	NM_206933.4(USH2A):c.14134-3169A>G GRCh37: Chr1:215827312 GRCh38: Chr1:215653970	USH2A		Usher syndrome, Retinitis pigmentosa, not provided	Pathogenic/Likely pathogenic (Jul 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 146316463.	NM_002900.3(RBP3):c.722A>T (p.Asp241Val) GRCh37: Chr10:48390156 GRCh38: Chr10:47349206	RBP3	D241V	Retinitis pigmentosa, Retinitis pigmentosa 66, not provided	Uncertain significance (Dec 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 145930164.	NM_001142800.2(EYS):c.4451G>A (p.Trp1484Ter) GRCh37: Chr6:65301309 GRCh38: Chr6:64591416	EYS	W1484*	Retinitis pigmentosa, not provided	Pathogenic (Jul 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 145428765.	NM_001142800.2(EYS):c.2275_2276del (p.Cys759fs) GRCh37: Chr6:65655791-65655792 GRCh38: Chr6:64945898-64945899	EYS	C759fs	not provided, Retinitis pigmentosa	Pathogenic/Likely pathogenic (Oct 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145164066.	NM_014336.5(AIPL1):c.276+1G>A GRCh37: Chr17:6337238 GRCh38: Chr17:6433918	AIPL1		Leber congenital amaurosis 4, Retinitis pigmentosa, Leber congenital amaurosis 4	Pathogenic/Likely pathogenic (Oct 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142082567.	NM_014053.4(FLVCR1):c.1198C>T (p.Gln400Ter) GRCh37: Chr1:213061234 GRCh38: Chr1:212887892	FLVCR1	Q400*	Retinitis pigmentosa, not provided	Pathogenic (Jul 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 138473068.	NM_001142800.2(EYS):c.492_499del (p.Leu165fs) GRCh37: Chr6:66204805-66204812 GRCh38: Chr6:65494912-65494919	EYS	L165fs	not provided, Retinitis pigmentosa	Pathogenic (Oct 18, 2023)	criteria provided, multiple submitters, no conflicts
Select item 138403569.	NM_014336.5(AIPL1):c.1112C>G (p.Ala371Gly) GRCh37: Chr17:6328823 GRCh38: Chr17:6425503	AIPL1	A308G, A359G, A371G, A311G, A349G, A332G, A347G	Leber congenital amaurosis 4, Retinitis pigmentosa, Leber congenital amaurosis 4	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134352570.	NM_001142800.2(EYS):c.5550_5551del (p.Glu1850fs) GRCh37: Chr6:65300209-65300210 GRCh38: Chr6:64590316-64590317	EYS	E1850fs	Retinitis pigmentosa	Likely pathogenic (Feb 18, 2022)	criteria provided, single submitter
Select item 134352271.	NM_001142800.2(EYS):c.5536_5543del (p.Val1846fs) GRCh37: Chr6:65300217-65300224 GRCh38: Chr6:64590324-64590331	EYS	V1846fs	Retinitis pigmentosa	Likely pathogenic (Feb 18, 2022)	criteria provided, single submitter
Select item 134351472.	NM_001077620.3(PRCD):c.74+1G>A GRCh37: Chr17:74536298 GRCh38: Chr17:76540216	CYGB, PRCD		Retinitis pigmentosa, not provided	Pathogenic/Likely pathogenic (Feb 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133886873.	NM_000390.4(CHM):c.703dup (p.Leu235fs) GRCh37: ChrX:85213981-85213982 GRCh38: ChrX:85958976-85958977	CHM	L235fs, L87fs	Retinitis pigmentosa	Pathogenic (Jan 5, 2022)	criteria provided, single submitter
Select item 133303074.	NM_000283.4(PDE6B):c.863_864del (p.Asp288fs) GRCh37: Chr4:647879-647880 GRCh38: Chr4:654090-654091	PDE6B, PDE6B-AS1	D288fs, D9fs	Retinitis pigmentosa	Pathogenic (Jan 12, 2022)	criteria provided, single submitter
Select item 132501175.	NM_006269.2(RP1):c.1986del (p.Lys663fs) GRCh37: Chr8:55538428 GRCh38: Chr8:54625868	RP1	K663fs	not provided, Retinitis pigmentosa	Pathogenic (Jul 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 131900976.	NM_001278293.3(ARL6):c.529C>T (p.Leu177Phe) GRCh37: Chr3:97510664 GRCh38: Chr3:97791820	ARL6	L177F	ARL6-related condition, Bardet-Biedl syndrome 3, Bardet-Biedl syndrome 1, Retinitis pigmentosa, Retinitis pigmentosa 55, not provided, Bardet-Biedl syndrome 3, Retinitis pigmentosa 55	Uncertain significance (Oct 4, 2023)	criteria provided, multiple submitters, no conflicts
Select item 130827577.	NM_201548.5(CERKL):c.316C>T (p.Arg106Cys) GRCh37: Chr2:182468729 GRCh38: Chr2:181604002	CERKL	R106C	Retinitis pigmentosa, not provided, Retinitis pigmentosa 26	Conflicting interpretations of pathogenicity (Aug 29, 2022)	criteria provided, conflicting interpretations
Select item 130017378.	NM_001142800.2(EYS):c.2854del (p.Cys952fs) GRCh37: Chr6:65596728 GRCh38: Chr6:64886835	EYS	C952fs	Retinitis pigmentosa	Pathogenic (Oct 20, 2021)	criteria provided, single submitter
Select item 129716579.	NM_004523.4(KIF11):c.2932_2933dup (p.Val978_Glu979insTer) GRCh37: Chr10:94410165-94410166 GRCh38: Chr10:92650408-92650409	KIF11		Retinitis pigmentosa	Pathogenic (Apr 1, 2021)	criteria provided, single submitter
Select item 129716480.	NM_015662.3(IFT172):c.3144_3152del (p.Glu1049_His1051del) GRCh37: Chr2:27680582-27680590 GRCh38: Chr2:27457715-27457723	IFT172		Retinitis pigmentosa	Uncertain significance (Apr 1, 2021)	criteria provided, single submitter
Select item 129716381.	NM_144499.3(GNAT1):c.508G>T (p.Val170Leu) GRCh37: Chr3:50231244 GRCh38: Chr3:50193811	GNAT1	V170L	Retinitis pigmentosa	Uncertain significance (Apr 1, 2021)	criteria provided, single submitter
Select item 129716282.	NM_014053.4(FLVCR1):c.806T>C (p.Leu269Pro) GRCh37: Chr1:213037134 GRCh38: Chr1:212863792	FLVCR1	L269P	Retinitis pigmentosa	Uncertain significance (Apr 1, 2021)	criteria provided, single submitter
Select item 129716183.	NM_014053.4(FLVCR1):c.1026T>C (p.Gly342=) GRCh37: Chr1:213056714 GRCh38: Chr1:212883372	FLVCR1		Retinitis pigmentosa	Uncertain significance (Apr 1, 2021)	criteria provided, single submitter
Select item 129716084.	NM_001142800.2(EYS):c.3164+1G>A GRCh37: Chr6:65532543 GRCh38: Chr6:64822650	EYS		not provided, Retinitis pigmentosa, Retinitis pigmentosa 25	Pathogenic/Likely pathogenic (Feb 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 129715985.	NM_001142800.2(EYS):c.174G>A (p.Trp58Ter) GRCh37: Chr6:66205130 GRCh38: Chr6:65495237	EYS	W58*	Retinitis pigmentosa, not provided	Pathogenic (Sep 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 129715886.	NM_001142800.2(EYS):c.7899-8A>G GRCh37: Chr6:64472534 GRCh38: Chr6:63762641	EYS		Retinitis pigmentosa	Uncertain significance (Apr 1, 2021)	criteria provided, single submitter
Select item 129715787.	NM_001142800.2(EYS):c.8468T>C (p.Ile2823Thr) GRCh37: Chr6:64431459 GRCh38: Chr6:63721563	EYS, PHF3	I2823T, I2844T	not provided, Retinitis pigmentosa	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 129715688.	NM_001142800.2(EYS):c.1193C>G (p.Ser398Ter) GRCh37: Chr6:66094385 GRCh38: Chr6:65384492	EYS	S398*	Retinitis pigmentosa, not provided	Pathogenic/Likely pathogenic (Jul 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 129715589.	NM_205861.3(DHDDS):c.616A>G (p.Thr206Ala) GRCh37: Chr1:26784355 GRCh38: Chr1:26457864	DHDDS	T113A, T167A, T172A, T206A	Retinitis pigmentosa 59, Retinitis pigmentosa	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 129715490.	NM_201253.3(CRB1):c.222C>G (p.Cys74Trp) GRCh37: Chr1:197297703 GRCh38: Chr1:197328573	CRB1	C5W, C74W	Retinitis pigmentosa, Retinitis pigmentosa 12	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 129715391.	NM_201253.3(CRB1):c.1844G>A (p.Gly615Asp) GRCh37: Chr1:197390802 GRCh38: Chr1:197421672	CRB1	G503D, G546D, G615D	Retinitis pigmentosa, Leber congenital amaurosis 8, Retinitis pigmentosa 12	Conflicting interpretations of pathogenicity (Jul 6, 2022)	criteria provided, conflicting interpretations
Select item 129715292.	NM_020184.4(CNNM4):c.731G>T (p.Cys244Phe) GRCh37: Chr2:97427467 GRCh38: Chr2:96761730	CNNM4	C244F	Retinitis pigmentosa, not provided	Uncertain significance (Aug 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 129715193.	NM_001297.5(CNGB1):c.2304G>C (p.Lys768Asn) GRCh37: Chr16:57949153 GRCh38: Chr16:57915249	CNGB1	K762N, K768N	Retinitis pigmentosa	Uncertain significance (Apr 1, 2021)	criteria provided, single submitter
Select item 129715094.	NM_001297.5(CNGB1):c.3185T>G (p.Leu1062Arg) GRCh37: Chr16:57931358 GRCh38: Chr16:57897454	CNGB1	L1056R, L1062R	Retinitis pigmentosa	Uncertain significance (Apr 1, 2021)	criteria provided, single submitter
Select item 129714995.	NM_001379270.1(CNGA1):c.234C>A (p.Tyr78Ter) GRCh37: Chr4:47951903 GRCh38: Chr4:47949886	CNGA1, LOC101927157	Y78*	Retinitis pigmentosa	Likely pathogenic (Apr 1, 2021)	criteria provided, single submitter
Select item 129714896.	NM_025114.4(CEP290):c.4705-2A>C GRCh37: Chr12:88477733 GRCh38: Chr12:88083956	CEP290		Meckel-Gruber syndrome, Familial aplasia of the vermis, Nephronophthisis, Leber congenital amaurosis 10, Retinitis pigmentosa	Conflicting interpretations of pathogenicity (May 4, 2022)	criteria provided, conflicting interpretations
Select item 129714797.	NM_033100.4(CDHR1):c.928C>T (p.Gln310Ter) GRCh37: Chr10:85965648 GRCh38: Chr10:84205892	CDHR1	Q310*	Cone-rod dystrophy 15, Retinitis pigmentosa	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 129714698.	NM_001256789.3(CACNA1F):c.3846C>T (p.Thr1282=) GRCh37: ChrX:49069223 GRCh38: ChrX:49212763	CACNA1F		Retinitis pigmentosa	Uncertain significance (Apr 1, 2021)	criteria provided, single submitter
Select item 129714599.	NM_177965.4(CFAP418):c.3G>A (p.Met1Ile) GRCh37: Chr8:96281415 GRCh38: Chr8:95269187	CFAP418, CFAP418-AS1, LOC130000784	M1I	Retinitis pigmentosa, Cone-rod dystrophy 16	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 1297144100.	NM_033028.5(BBS4):c.864+1G>C GRCh37: Chr15:73023799 GRCh38: Chr15:72731458	BBS4		Bardet-Biedl syndrome 4, Retinitis pigmentosa	Uncertain significance (May 4, 2022)	criteria provided, single submitter

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