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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: cone-rod dystrophy (MONDO:0015993)
Parent Node: retinitis pigmentosa (MONDO:0019200)
..Starting node ..cone-rod dystrophy 2 ()
Child Nodes:
Sister Nodes:
..autosomal recessive pericentral pigmentary retinopathy ()
..cone-rod dystrophy 15 ()
..cone-rod dystrophy 16 ()
..cone-rod dystrophy 2 ()
..dominant pericentral pigmentary retinopathy ()
..late-adult onset retinitis pigmentosa ()
..retinitis pigmentosa 1 ()
..retinitis pigmentosa 10 ()
..retinitis pigmentosa 11 ()
..retinitis pigmentosa 12 ()
..retinitis pigmentosa 13 ()
..retinitis pigmentosa 14 ()
..retinitis pigmentosa 17 ()
..retinitis pigmentosa 18 ()
..retinitis pigmentosa 19 ()
..retinitis pigmentosa 2 ()
..retinitis pigmentosa 20 ()
..retinitis pigmentosa 22 ()
..retinitis pigmentosa 23 ()
..retinitis pigmentosa 24 ()
..retinitis pigmentosa 25 ()
..retinitis pigmentosa 26 ()
..retinitis pigmentosa 27 ()
..retinitis pigmentosa 28 ()
..retinitis pigmentosa 29 ()
..retinitis pigmentosa 3 ()
..retinitis pigmentosa 30 ()
..retinitis pigmentosa 31 ()
..retinitis pigmentosa 32 ()
..retinitis pigmentosa 33 ()
..retinitis pigmentosa 34 ()
..retinitis pigmentosa 35 ()
..retinitis pigmentosa 36 ()
..retinitis pigmentosa 37 ()
..retinitis pigmentosa 38 ()
..retinitis pigmentosa 39 ()
..retinitis pigmentosa 4 ()
..retinitis pigmentosa 40 ()
..retinitis pigmentosa 41 ()
..retinitis pigmentosa 42 ()
..retinitis pigmentosa 43 ()
..retinitis pigmentosa 44 ()
..retinitis pigmentosa 45 ()
..retinitis pigmentosa 46 ()
..retinitis pigmentosa 47 ()
..retinitis pigmentosa 48 ()
..retinitis pigmentosa 49 ()
..retinitis pigmentosa 50 ()
..retinitis pigmentosa 51 ()
..retinitis pigmentosa 54 ()
..retinitis pigmentosa 55 ()
..retinitis pigmentosa 56 ()
..retinitis pigmentosa 57 ()
..retinitis pigmentosa 58 ()
..retinitis pigmentosa 59 ()
..retinitis pigmentosa 6 ()
..retinitis pigmentosa 60 ()
..retinitis pigmentosa 61 ()
..retinitis pigmentosa 62 ()
..retinitis pigmentosa 63 ()
..retinitis pigmentosa 66 ()
..retinitis pigmentosa 67 ()
..retinitis pigmentosa 7 ()
..retinitis pigmentosa 9 ()
..retinitis pigmentosa with or without situs inversus ()
..retinitis pigmentosa Y-linked ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

7362

Name:

cone-rod dystrophy 2

Definition:

Any cone-rod dystrophy in which the cause of the disease is a mutation in the CRX gene.

Alternative IDs:

120970

ParentIDs:

TreeNumbers:

Synonyms:

cone-Rod dystrophy; cone-rod dystrophy 2; cone-ROD dystrophy 2; CORD2; cone-rod dystrophy caused by mutation in CRX; cone-Rod dystrophy type 2; cone-rod dystrophy type 2; cone-Rod retinal dystrophy; cone-rod retinal dystrophy 2; CORD2; CRD2; CRX cone-rod dystrophy; RCRD2; retinal cone-Rod dystrophy;

Slim Mappings:

Reference:

MedGen:
MeSH:
OMIM: 120970;
MSeqDR :
Genes: CRX;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000551	Abnormality of color vision
3	HP:0000618	Blindness
4	HP:0000533	Chorioretinal atrophy
5	HP:0000548	Cone/cone-rod dystrophy
6	HP:0000662	Nyctalopia
7	HP:0007994	Peripheral visual field loss
8	HP:0007663	Reduced visual acuity

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_014336.5(AIPL1):c.294del (p.Ile99fs)	23746	AIPL1	Likely pathogenic	1597331616	RCV000790981\|RCV000790979\|RCV000790980;	N	MONDO:MONDO:0011458,MedGen:C1858386,OMIM:604393\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	17	6331809	6331809	17:g.6331809_6331809del	-
NM_000554.6(CRX):c.118C>T (p.Arg40Trp)	1406	CRX	Pathogenic/Likely pathogenic	749738655	RCV001071559\|RCV001075179\|RCV001352999\|RCV003318660;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontolog	19	48339517	48339517	19:g.48339517C>T	-
NM_000554.6(CRX):c.122G>A (p.Arg41Gln)	1406	CRX	Pathogenic/Likely pathogenic	61748436	RCV000007846\|RCV000085990\|RCV001075469\|RCV001059718;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MedGen:C3661900\|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontology:HP:0007974,Human Phenotype Ontology:HP:000	19	48339521	48339521	19:g.48339521G>A	ClinGen:CA118791,UniProtKB:O43186#VAR_007946,OMIM:602225.0006,ClinVar:983151	CN074280 120970 Cone-rod dystrophy 2;
NM_000554.6(CRX):c.128G>A (p.Arg43His)	1406	CRX	Pathogenic/Likely pathogenic	771736389	RCV001228802\|RCV001544775;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MedGen:CN517202	19	48339527	48339527	19:g.48339527G>A	-
NM_000554.6(CRX):c.404del (p.Pro135fs)	1406	CRX	Pathogenic/Likely pathogenic	1064797246	RCV000488002\|RCV001202810;	N	MedGen:C3661900\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48342726	48342726	19:g.48342726_48342726del	ClinGen:CA16621742	CN517202 not provided;
NM_000554.6(CRX):c.545C>G (p.Ser182Ter)	1406	CRX	Pathogenic/Likely pathogenic	2123743235	RCV002249841\|RCV003094022;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342869	48342869	48342869	-
NC_000019.9:g.(?_48337701)_(48343224_?)del	1406	CRX	Pathogenic	-1	RCV001350984;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48337701	48343224	-1	-
NC_000019.9:g.(?_48339480)_(48343224_?)del	1406	CRX	Pathogenic	-1	RCV003105260;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48339480	48343224		-
NC_000019.9:g.(?_48339500)_(48343224_?)del	1406	CRX	Pathogenic	-1	RCV001384228;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48339500	48343224	-1	-
NM_000554.6(CRX):c.121C>T (p.Arg41Trp)	1406	CRX	Pathogenic	104894672	RCV000007843\|RCV000085989\|RCV001073396\|RCV001386169\|RCV003324484\|RCV003324485;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MedGen:C3661900\|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontology:HP:0007974,Human Phenotype Ontology:HP:000	19	48339520	48339520	19:g.48339520C>T	ClinGen:CA118790,UniProtKB:O43186#VAR_003750,OMIM:602225.0005	CN074280 120970 Cone-rod dystrophy 2;
NM_000554.6(CRX):c.127C>T (p.Arg43Cys)	1406	CRX	Pathogenic	1437021651	RCV000787585\|RCV001869190;	N	Human Phenotype Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970, Orphanet:1872\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48339526	48339526	19:g.48339526C>T	-
NM_000554.6(CRX):c.152_153del (p.Leu51fs)	1406	CRX	Pathogenic	1968116898	RCV001215027;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48339551	48339552	19:g.48339551_48339552del	-
NM_000554.6(CRX):c.238G>A (p.Glu80Lys)	1406	CRX	Pathogenic	62654391	RCV000085994\|RCV001003002\|RCV001854500;	N	MedGen:CN517202\|\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48339637	48339637	19:g.48339637G>A	ClinGen:CA227617	CN517202 not provided;
NM_000554.6(CRX):c.239A>C (p.Glu80Ala)	1406	CRX	Pathogenic	104894671	RCV000007841\|RCV000085995\|RCV001386170;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MedGen:CN517202\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48339638	48339638	19:g.48339638A>C	ClinGen:CA118789,UniProtKB:O43186#VAR_003751,OMIM:602225.0001	CN074280 120970 Cone-rod dystrophy 2;
NM_000554.6(CRX):c.262_275del (p.Phe87_Lys88insTer)	1406	CRX	Pathogenic	1968160841	RCV001207853;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342585	48342598	19:g.48342585_48342598del	-
NM_000554.6(CRX):c.447dup (p.Ser150fs)	1406	CRX	Pathogenic	61748444	RCV000086003\|RCV001247677;	N	MedGen:CN517202\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342767	48342768	19:g.48342767_48342768insC	ClinGen:CA227628	CN517202 not provided;
NM_000554.6(CRX):c.449C>G (p.Ser150Ter)	1406	CRX	Pathogenic	864309706	RCV000203264\|RCV001208760;	N	MONDO:MONDO:0007934,MedGen:C5561925,OMIM:153870, Orphanet:251287\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342773	48342773	NC_000019.9:g.48342773C>G	ClinGen:CA339650	C1828210 153870 Bull's eye maculopathy;
NM_000554.6(CRX):c.500_501del (p.Ala166_Ser167insTer)	1406	CRX	Pathogenic	1599991611	RCV000990237\|RCV001233804;	N	MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342824	48342825	19:g.48342824_48342825del	-
NM_000554.6(CRX):c.502del (p.Glu168fs)	1406	CRX	Pathogenic	1568626209	RCV000007842;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342826	48342826	NC_000019.9:g.48342826del	OMIM:602225.0002
NM_000554.6(CRX):c.512del (p.Leu171fs)	1406	CRX	Pathogenic	1968166909	RCV001250584\|RCV001879781;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48342834	48342834	19:g.48342834_48342834del	-
NM_000554.6(CRX):c.570dup (p.Tyr191fs)	1406	CRX	Pathogenic	1968168564	RCV001544506;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342889	48342890	48342889	-
NM_000554.6(CRX):c.571del (p.Tyr191fs)	1406	CRX	Pathogenic	61748452	RCV000086011\|RCV001857422;	N	MedGen:CN517202\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342895	48342895	19:g.48342895_48342895del	ClinGen:CA227636	CN517202 not provided;
NM_000554.6(CRX):c.586_587del (p.Ala196fs)	1406	CRX	Pathogenic	2123743320	RCV002249842;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342909	48342910	48342908	-
NM_000554.6(CRX):c.661_*3038del (p.Tyr221fs)	1406	CRX	Pathogenic	-1	RCV001208512;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342985	48346262	19:g.48342985_48343083del	-
NM_000554.6(CRX):c.816_818delinsAA (p.Thr273fs)	1406	CRX	Pathogenic	2123743692	RCV000007850;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48343140	48343142	48343140	OMIM:602225.0010
NM_000554.6(CRX):c.101-1G>T	1406	CRX	Likely pathogenic	1968115710	RCV001063855;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48339499	48339499	19:g.48339499G>T	-
NM_000554.6(CRX):c.463dup (p.Thr155fs)	1406	CRX	Likely pathogenic	2123743110	RCV001924859;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342786	48342787	48342786	-
NM_000554.6(CRX):c.533_545dup (p.Gly183fs)	1406	CRX	Likely pathogenic	2123743219	RCV002251170;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342856	48342857	48342856	-
NM_000554.6(CRX):c.590del (p.Pro197fs)	1406	CRX	Likely pathogenic	1968169100	RCV001925009\|RCV002466710;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:MONDO:0019353,MedGen:C0271093, Orphanet:827	19	48342911	48342911	48342910	-
NM_000554.6(CRX):c.663C>G (p.Tyr221Ter)	1406	CRX	Likely pathogenic	-1	RCV003061635;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342987	48342987	NC_000019.9:g.48342987C>G	-
NM_000554.6(CRX):c.766C>T (p.Gln256Ter)	1406	CRX	Likely pathogenic	1968173024	RCV001067544\|RCV002249668;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48343090	48343090	19:g.48343090C>T	-
NM_000554.6(CRX):c.774T>A (p.Tyr258Ter)	1406	CRX	Likely pathogenic	767273026	RCV001985814;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48343098	48343098	48343098	-
NM_000554.6(CRX):c.898T>C (p.Ter300Gln)	1406	CRX	Likely pathogenic	1599992745	RCV001029942;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48343222	48343222	19:g.48343222T>C	-
NC_000019.10:g.(?_47801775)_(47886257_?)del	1406	CRX	Uncertain significance	-1	RCV001031387;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48305032	48389514	-1	-
NC_000019.10:g.(?_47818438)_(47886257_?)del	1406	CRX	Uncertain significance	-1	RCV001033057;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48321695	48389514	-1	-
NM_000554.6(CRX):c.-55C>T	1406	CRX	Uncertain significance	886054543	RCV000287829\|RCV000326410\|RCV000387930;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	19	48325248	48325248	NC_000019.9:g.48325248C>T	ClinGen:CA10652620	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.-46C>T	1406	CRX	Uncertain significance	755040084	RCV001131448\|RCV001131447\|RCV001131446;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48325257	48325257	19:g.48325257C>T	-
NM_000554.6(CRX):c.-39G>C	1406	CRX	Benign/Likely benign	531267959	RCV000295894\|RCV000348513\|RCV000398101;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	19	48325264	48325264	NC_000019.9:g.48325264G>C	ClinGen:CA10643039	CN239348 Cone-Rod Dystrophy, Dominant;
NC_000019.10:g.(?_47834444)_(47836394_?)del	1406	CRX	Uncertain significance	-1	RCV001032092;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48337701	48339651	-1	-
NC_000019.9:g.(?_48337701)_(48339671_?)dup	1406	CRX	Uncertain significance	-1	RCV001981841;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48337701	48339671	-1	-
NC_000019.9:g.(?_48337701)_(48337820_?)del	1406	CRX	Uncertain significance	-1	RCV003105259;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48337701	48337820		-
NM_000554.6(CRX):c.8C>T (p.Ala3Val)	1406	CRX	Uncertain significance	762715327	RCV001057955;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48337708	48337708	19:g.48337708C>T	-
NM_000554.6(CRX):c.9G>A (p.Ala3=)	1406	CRX	Likely benign	140766502	RCV002090805;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48337709	48337709	48337709	-
NM_000554.6(CRX):c.11A>G (p.Tyr4Cys)	1406	CRX	Uncertain significance	1211313175	RCV001323352;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48337711	48337711	48337711	-
NM_000554.6(CRX):c.20C>T (p.Pro7Leu)	1406	CRX	Uncertain significance	558522333	RCV001990192;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48337720	48337720	48337720	-
NM_000554.6(CRX):c.21G>A (p.Pro7=)	1406	CRX	Uncertain significance	772745666	RCV001339805;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48337721	48337721	48337721	-
NM_000554.6(CRX):c.22G>C (p.Gly8Arg)	1406	CRX	Likely benign	146240568	RCV001345352;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48337722	48337722	48337722	-
NM_000554.6(CRX):c.25C>T (p.Pro9Ser)	1406	CRX	Uncertain significance	2123738269	RCV002000899;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48337725	48337725	48337725	-
NM_000554.6(CRX):c.28C>G (p.His10Asp)	1406	CRX	Conflicting interpretations of pathogenicity	139340178	RCV000280624\|RCV000401704\|RCV000787830\|RCV000878021\|RCV001087610;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MedGen:	19	48337728	48337728	NC_000019.9:g.48337728C>G	ClinGen:CA9544368,UniProtKB:O43186#VAR_076956	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.42C>T (p.Asn14=)	1406	CRX	Likely benign	774344094	RCV001396700;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48337742	48337742	48337742	-
NM_000554.6(CRX):c.42C>A (p.Asn14Lys)	1406	CRX	Uncertain significance	774344094	RCV002038047;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48337742	48337742	48337742	-
NM_000554.6(CRX):c.43G>A (p.Ala15Thr)	1406	CRX	Uncertain significance	559181643	RCV001910272;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48337743	48337743	48337743	-
NM_000554.6(CRX):c.60C>G (p.Gly20=)	1406	CRX	Uncertain significance	769017861	RCV002019302;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48337760	48337760	48337760	-
NM_000554.6(CRX):c.60C>T (p.Gly20=)	1406	CRX	Likely benign	-1	RCV002979394;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48337760	48337760		-
NM_000554.6(CRX):c.76_80del (p.Met26fs)	1406	CRX	Uncertain significance	2123738324	RCV001365217;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48337776	48337780	48337775	-
NM_000554.6(CRX):c.78G>A (p.Met26Ile)	1406	CRX	Uncertain significance	886054544	RCV000298080\|RCV000341362\|RCV000391648;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48337778	48337778	NC_000019.9:g.48337778G>A	ClinGen:CA10652151	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.81C>T (p.His27=)	1406	CRX	Likely benign	2123738329	RCV002092439;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48337781	48337781	48337781	-
NM_000554.6(CRX):c.83A>G (p.Gln28Arg)	1406	CRX	Uncertain significance	781577708	RCV001370444;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48337783	48337783	48337783	-
NM_000554.6(CRX):c.85G>A (p.Ala29Thr)	1406	CRX	Uncertain significance	-1	RCV003079373;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48337785	48337785	NC_000019.9:g.48337785G>A	-
NM_000554.6(CRX):c.89T>A (p.Val30Glu)	1406	CRX	Uncertain significance	-1	RCV003054109;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48337789	48337789	NC_000019.9:g.48337789T>A	-
NM_000554.6(CRX):c.100+2T>G	1406	CRX	Uncertain significance	-1	RCV003008305;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48337802	48337802	NC_000019.9:g.48337802T>G	-
NM_000554.6(CRX):c.100+3_100+5delinsTTA	1406	CRX	Conflicting interpretations of pathogenicity	1064796109	RCV000485254\|RCV001054464;	N	MedGen:CN517202\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48337803	48337805	NC_000019.9:g.48337803_48337805delinsTTA	ClinGen:CA16620868
NM_000554.6(CRX):c.100+3G>C	1406	CRX	Uncertain significance	1568624171	RCV001244584;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48337803	48337803	19:g.48337803G>C	-
NM_000554.6(CRX):c.100+8C>T	1406	CRX	Likely benign	375411321	RCV000937282;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48337808	48337808	19:g.48337808C>T	-
NM_000554.6(CRX):c.100+12C>T	1406	CRX	Benign	62128766	RCV000085985\|RCV000271922\|RCV000248132\|RCV000302511\|RCV000359553\|RCV001522153;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MedGen:CN169374\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MONDO:MONDO:0013449,MedGen:C3151192	19	48337812	48337812	19:g.48337812C>T	ClinGen:CA227608	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.100+13G>A	1406	CRX	Likely benign	770361425	RCV001474780;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48337813	48337813	48337813	-
NM_000554.6(CRX):c.101-12A>G	1406	CRX	Benign	73941294	RCV000270983\|RCV000310833\|RCV000363225\|RCV001519268\|RCV001712052;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:M	19	48339488	48339488	NC_000019.9:g.48339488A>G	ClinGen:CA9544396	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.101-10C>T	1406	CRX	Likely benign	-1	RCV003019901;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48339490	48339490	NC_000019.9:g.48339490C>T	-
NM_000554.6(CRX):c.101-3del	1406	CRX	Conflicting interpretations of pathogenicity	727503894	RCV000153122\|RCV001522927;	N	MedGen:CN517202\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48339494	48339494	19:g.48339494_48339494del	ClinGen:CA233873	CN169374 not specified;
NM_000554.6(CRX):c.101-6C>T	1406	CRX	Likely benign	781316943	RCV002163876;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48339494	48339494	48339494	-
NM_000554.6(CRX):c.102C>T (p.Ser34=)	1406	CRX	Benign/Likely benign	139778328	RCV000402665\|RCV000946108;	N	MedGen:CN169374\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48339501	48339501	19:g.48339501C>T	ClinGen:CA9544399	CN169374 not specified;
NM_000554.6(CRX):c.108del (p.Arg37fs)	1406	CRX	Uncertain significance	2123739840	RCV001972914;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48339503	48339503	48339502	-
NM_000554.6(CRX):c.105C>A (p.Ala35=)	1406	CRX	Uncertain significance	886054545	RCV000273977\|RCV000333028\|RCV000389392;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48339504	48339504	NC_000019.9:g.48339504C>A	ClinGen:CA10652621	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.106C>T (p.Pro36Ser)	1406	CRX	Uncertain significance	-1	RCV002305159;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48339505	48339505	48339505	-
NM_000554.6(CRX):c.109A>C (p.Arg37=)	1406	CRX	Likely benign	-1	RCV002685605;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48339508	48339508		-
NM_000554.6(CRX):c.116_127del (p.Gln39_Glu42del)	1406	CRX	Uncertain significance	-1	RCV002839076;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48339512	48339523	NC_000019.9:g.48339515_48339526del	-
NM_000554.6(CRX):c.119G>C (p.Arg40Pro)	1406	CRX	Uncertain significance	-1	RCV002885697;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48339518	48339518	NC_000019.9:g.48339518G>C	-
NM_000554.6(CRX):c.123G>A (p.Arg41=)	1406	CRX	Likely benign	181068147	RCV002540805;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48339522	48339522	19:g.48339522G>A	-
NM_000554.6(CRX):c.125_128dup (p.Thr44fs)	1406	CRX	Uncertain significance	2123739871	RCV001881843;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48339522	48339523	48339522	-
NM_000554.6(CRX):c.127C>A (p.Arg43Ser)	1406	CRX	Uncertain significance	1437021651	RCV001352222;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48339526	48339526	48339526	-
NM_000554.6(CRX):c.128G>T (p.Arg43Leu)	1406	CRX	Uncertain significance	771736389	RCV002029275;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48339527	48339527	48339527	-
NM_000554.6(CRX):c.129C>T (p.Arg43=)	1406	CRX	Likely benign	775065439	RCV000907965;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48339528	48339528	19:g.48339528C>T	-
NM_000554.6(CRX):c.133A>G (p.Thr45Ala)	1406	CRX	Uncertain significance	-1	RCV003112649;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48339532	48339532	NC_000019.9:g.48339532A>G	-
NM_000554.6(CRX):c.140C>T (p.Thr47Ile)	1406	CRX	Uncertain significance	1203670123	RCV001972092\|RCV003264299;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MeSH:D030342,MedGen:C0950123	19	48339539	48339539	48339539	-
NM_000554.6(CRX):c.142C>T (p.Arg48Trp)	1406	CRX	Uncertain significance	761797993	RCV001932777;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48339541	48339541	48339541	-
NM_000554.6(CRX):c.159G>A (p.Glu53=)	1406	CRX	Likely benign	767773596	RCV001474135;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48339558	48339558	48339558	-
NM_000554.6(CRX):c.166G>A (p.Ala56Thr)	1406	CRX	Uncertain significance	61748437	RCV000085991\|RCV001369855;	N	MedGen:CN517202\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48339565	48339565	19:g.48339565G>A	ClinGen:CA227612	CN517202 not provided;
NM_000554.6(CRX):c.176_177del (p.Ala59fs)	1406	CRX	Uncertain significance	2123739943	RCV001926782;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48339575	48339576	48339574	-
NM_000554.6(CRX):c.182C>T (p.Thr61Ile)	1406	CRX	Uncertain significance	1599985527	RCV002033569;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48339581	48339581	48339581	-
NM_000554.6(CRX):c.195C>T (p.Asp65=)	1406	CRX	Likely benign	757731373	RCV002116312;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48339594	48339594	48339594	-
NM_000554.6(CRX):c.196G>T (p.Val66Phe)	1406	CRX	Uncertain significance	61748438	RCV002001280;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48339595	48339595	48339595	-
NM_000554.6(CRX):c.198C>T (p.Val66=)	1406	CRX	Likely benign	-1	RCV003013351;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48339597	48339597		-
NM_000554.6(CRX):c.203C>T (p.Ala68Val)	1406	CRX	Uncertain significance	145649717	RCV001361102;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48339602	48339602	48339602	-
NM_000554.6(CRX):c.205C>G (p.Arg69Gly)	1406	CRX	Uncertain significance	-1	RCV003056494;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48339604	48339604	NC_000019.9:g.48339604C>G	-
NM_000554.6(CRX):c.206G>A (p.Arg69His)	1406	CRX	Conflicting interpretations of pathogenicity	775073228	RCV001093247\|RCV001238013;	N	MedGen:C3661900\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48339605	48339605	19:g.48339605G>A	-
NM_000554.6(CRX):c.211G>A (p.Glu71Lys)	1406	CRX	Uncertain significance	-1	RCV002637767;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48339610	48339610	NC_000019.9:g.48339610G>A	-
NM_000554.6(CRX):c.213G>A (p.Glu71=)	1406	CRX	Likely benign	-1	RCV002637976;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48339612	48339612		-
NM_000554.6(CRX):c.216G>A (p.Val72=)	1406	CRX	Likely benign	2123739992	RCV002170404;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48339615	48339615	48339615	-
NM_000554.6(CRX):c.225G>T (p.Lys75Asn)	1406	CRX	Uncertain significance	1568624864	RCV001867610;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48339624	48339624	48339624	-
NM_000554.6(CRX):c.226A>T (p.Ile76Phe)	1406	CRX	Uncertain significance	2123740000	RCV001993930;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48339625	48339625	48339625	-
NM_000554.6(CRX):c.240G>A (p.Glu80=)	1406	CRX	Likely benign	-1	RCV002622811;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48339639	48339639		-
NM_000554.6(CRX):c.252+8G>C	1406	CRX	Likely benign	773348946	RCV002065849;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48339659	48339659	19:g.48339659G>C	-
NM_000554.6(CRX):c.252+18_252+24del	1406	CRX	Likely benign	2123740025	RCV002202633;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48339666	48339672	48339665	-
NC_000019.10:g.(?_47839300)_(47839987_?)del	1406	CRX	Uncertain significance	-1	RCV001031334;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342557	48343244	-1	-
NC_000019.9:g.(?_48342557)_(48343224_?)dup	1406	CRX	Uncertain significance	-1	RCV001916120;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342557	48343224	-1	-
NM_000554.6(CRX):c.253-16C>T	1406	CRX	Likely benign	372605680	RCV002106712;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342561	48342561	48342561	-
NM_000554.6(CRX):c.253-15G>A	1406	CRX	Conflicting interpretations of pathogenicity	145805694	RCV000085996\|RCV000282603\|RCV000335244\|RCV000374438\|RCV001512740;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970,Orpha	19	48342562	48342562	19:g.48342562G>A	ClinGen:CA227619	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.253-11T>C	1406	CRX	Likely benign	199991284	RCV002167303;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342566	48342566	48342566	-
NM_000554.6(CRX):c.253-7C>G	1406	CRX	Uncertain significance	754128724	RCV001226784;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342570	48342570	19:g.48342570C>G	-
NM_000554.6(CRX):c.253-1G>T	1406	CRX	Uncertain significance	-1	RCV002875945;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48342576	48342576	NC_000019.9:g.48342576G>T	-
NC_000019.10:g.(?_47839320)_(47839967_?)del	1406	CRX	Uncertain significance	-1	RCV001031529;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342577	48343224	-1	-
NM_000554.6(CRX):c.258G>C (p.Trp86Cys)	1406	CRX	Uncertain significance	1968160766	RCV001223743;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342582	48342582	19:g.48342582G>C	-
NM_000554.6(CRX):c.262A>G (p.Lys88Glu)	1406	CRX	Uncertain significance	1968160874	RCV001342164;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342586	48342586	48342586	-
NM_000554.6(CRX):c.263A>G (p.Lys88Arg)	1406	CRX	Conflicting interpretations of pathogenicity	1001151383	RCV001320521\|RCV001587340\|RCV001532383\|RCV003447588;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MedGen:	19	48342587	48342587	48342587	-
NM_000554.6(CRX):c.269G>A (p.Arg90Gln)	1406	CRX	Uncertain significance	1209634994	RCV000520899\|RCV001853674;	N	MedGen:CN517202\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48342593	48342593	NC_000019.9:g.48342593G>A	ClinGen:CA406630283
NM_000554.6(CRX):c.273G>A (p.Arg91=)	1406	CRX	Likely benign	1254989456	RCV001494755;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342597	48342597	19:g.48342597G>A	-
NM_000554.6(CRX):c.274G>A (p.Ala92Thr)	1406	CRX	Conflicting interpretations of pathogenicity	786205521	RCV000171286\|RCV001342675\|RCV001257853;	N	MedGen:C3661900\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MedGen:C0339525	19	48342598	48342598	19:g.48342598G>A	ClinGen:CA236030	CN517202 not provided;
NM_000554.6(CRX):c.274G>C (p.Ala92Pro)	1406	CRX	Uncertain significance	786205521	RCV001911194;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48342598	48342598	48342598	-
NM_000554.6(CRX):c.276T>G (p.Ala92=)	1406	CRX	Benign	536401910	RCV000949190;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48342600	48342600	19:g.48342600T>G	-
NM_000554.6(CRX):c.281G>A (p.Cys94Tyr)	1406	CRX	Uncertain significance	-1	RCV002843056;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48342605	48342605	NC_000019.9:g.48342605G>A	-
NM_000554.6(CRX):c.292C>T (p.Arg98Ter)	1406	CRX	Conflicting interpretations of pathogenicity	751018117	RCV001256189\|RCV001879957;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342616	48342616	19:g.48342616C>T	-
NM_000554.6(CRX):c.309G>A (p.Gln103=)	1406	CRX	Likely benign	138242846	RCV001450207;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48342633	48342633	48342633	-
NM_000554.6(CRX):c.311A>G (p.Gln104Arg)	1406	CRX	Uncertain significance	769592519	RCV002005846;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48342635	48342635	48342635	-
NM_000554.6(CRX):c.323del (p.Pro108fs)	1406	CRX	Uncertain significance	1968162287	RCV001338120;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342643	48342643	48342642	-
NM_000554.6(CRX):c.324del (p.Gly110fs)	1406	CRX	Uncertain significance	2123742895	RCV001864367;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48342648	48342648	48342647	-
NM_000554.6(CRX):c.332A>G (p.Gln111Arg)	1406	CRX	Uncertain significance	760741667	RCV000591774\|RCV001860176;	N	MedGen:CN517202\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48342656	48342656	19:g.48342656A>G	ClinGen:CA9544469	CN169374 not specified;
NM_000554.6(CRX):c.335C>T (p.Ala112Val)	1406	CRX	Uncertain significance	61748439	RCV000085998\|RCV001857421;	N	MedGen:C3661900\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342659	48342659	19:g.48342659C>T	ClinGen:CA227621	CN517202 not provided;
NM_000554.6(CRX):c.339G>A (p.Lys113=)	1406	CRX	Likely benign	761978269	RCV001487371;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48342663	48342663	48342663	-
NM_000554.6(CRX):c.342C>T (p.Ala114=)	1406	CRX	Likely benign	-1	RCV003056699;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342666	48342666		-
NM_000554.6(CRX):c.343C>T (p.Arg115Trp)	1406	CRX	Uncertain significance	1056691132	RCV001226434;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342667	48342667	19:g.48342667C>T	-
NM_000554.6(CRX):c.344G>A (p.Arg115Gln)	1406	CRX	Uncertain significance	750727986	RCV001222808;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342668	48342668	19:g.48342668G>A	-
NM_000554.6(CRX):c.345G>A (p.Arg115=)	1406	CRX	Likely benign	1968162928	RCV002201520;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48342669	48342669	48342669	-
NM_000554.6(CRX):c.349G>A (p.Ala117Thr)	1406	CRX	Uncertain significance	1599991109	RCV001870266;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342673	48342673	48342673	-
NM_000554.6(CRX):c.360G>A (p.Lys120=)	1406	CRX	Likely benign	-1	RCV003049280;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342684	48342684		-
NM_000554.6(CRX):c.362C>T (p.Ala121Val)	1406	CRX	Uncertain significance	-1	RCV003050545;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48342686	48342686	NC_000019.9:g.48342686C>T	-
NM_000554.6(CRX):c.363G>A (p.Ala121=)	1406	CRX	Likely benign	141888455	RCV001476270;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48342687	48342687	48342687	-
NM_000554.6(CRX):c.365del (p.Gly122fs)	1406	CRX	Uncertain significance	1968163226	RCV001927127;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48342687	48342687	48342686	-
NM_000554.6(CRX):c.365G>A (p.Gly122Asp)	1406	CRX	Benign/Likely benign	61748441	RCV000086000\|RCV000153123\|RCV000286039\|RCV000339186\|RCV000373510\|RCV001082272\|RCV001258249;	N	MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OM	19	48342689	48342689	19:g.48342689G>A	ClinGen:CA179944,UniProtKB:O43186#VAR_008282	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.367A>G (p.Thr123Ala)	1406	CRX	Likely benign	755554804	RCV002066221;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342691	48342691	19:g.48342691A>G	-
NM_000554.6(CRX):c.369G>A (p.Thr123=)	1406	CRX	Likely benign	368752695	RCV002216457;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342693	48342693	48342693	-
NM_000554.6(CRX):c.372C>A (p.Ser124=)	1406	CRX	Likely benign	755797220	RCV002176745;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342696	48342696	48342696	-
NM_000554.6(CRX):c.377G>A (p.Arg126Lys)	1406	CRX	Uncertain significance	1299569341	RCV001928100;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48342701	48342701	48342701	-
NM_000554.6(CRX):c.381del (p.Ser128fs)	1406	CRX	Uncertain significance	1599991268	RCV001924970;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342703	48342703	48342702	-
NM_000554.6(CRX):c.390T>C (p.Asp130=)	1406	CRX	Likely benign	-1	RCV003005469;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342714	48342714		-
NM_000554.6(CRX):c.400G>A (p.Asp134Asn)	1406	CRX	Uncertain significance	1968164288	RCV001131565\|RCV001131566\|RCV001131567;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342724	48342724	19:g.48342724G>A	-
NM_000554.6(CRX):c.407_416dup (p.Asp140fs)	1406	CRX	Uncertain significance	1968164438	RCV001211671;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342727	48342728	19:g.48342727_48342728insCTCTGGGCAT	-
NM_000554.6(CRX):c.404C>G (p.Pro135Arg)	1406	CRX	Uncertain significance	2123743010	RCV002027940;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342728	48342728	48342728	-
NM_000554.6(CRX):c.406C>T (p.Leu136=)	1406	CRX	Likely benign	-1	RCV003104932;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342730	48342730		-
NM_000554.6(CRX):c.412A>G (p.Ile138Val)	1406	CRX	Uncertain significance	373934471	RCV002051059\|RCV002545377;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MeSH:D030342,MedGen:C0950123	19	48342736	48342736	48342736	-
NM_000554.6(CRX):c.415T>G (p.Ser139Ala)	1406	CRX	Uncertain significance	373281561	RCV001885662;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48342739	48342739	48342739	-
NM_000554.6(CRX):c.426C>A (p.Tyr142Ter)	1406	CRX	Uncertain significance	1968164899	RCV001341159;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342750	48342750	48342750	-
NM_000554.6(CRX):c.433C>T (p.Pro145Ser)	1406	CRX	Uncertain significance	149300196	RCV001205889;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48342757	48342757	19:g.48342757C>T	-
NM_000554.6(CRX):c.435del (p.Leu146fs)	1406	CRX	Uncertain significance	1968165217	RCV001228949;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48342759	48342759	19:g.48342759_48342759del	-
NM_000554.6(CRX):c.439C>T (p.Pro147Ser)	1406	CRX	Uncertain significance	1173779531	RCV001359494;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48342763	48342763	48342763	-
NM_000554.6(CRX):c.441C>T (p.Pro147=)	1406	CRX	Likely benign	147422878	RCV002136139;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48342765	48342765	48342765	-
NM_000554.6(CRX):c.442G>C (p.Gly148Arg)	1406	CRX	Uncertain significance	760080266	RCV001988291;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342766	48342766	48342766	-
NM_000554.6(CRX):c.460A>G (p.Thr154Ala)	1406	CRX	Conflicting interpretations of pathogenicity	763651232	RCV001131571\|RCV001131570\|RCV001132600\|RCV002558276;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:M	19	48342784	48342784	19:g.48342784A>G	-
NM_000554.6(CRX):c.462C>T (p.Thr154=)	1406	CRX	Likely benign	2123743108	RCV002180437;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342786	48342786	48342786	-
NM_000554.6(CRX):c.464C>T (p.Thr155Met)	1406	CRX	Uncertain significance	753466818	RCV001065192\|RCV002553971;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MeSH:D030342,MedGen:C0950123	19	48342788	48342788	19:g.48342788C>T	-
NM_000554.6(CRX):c.472G>A (p.Ala158Thr)	1406	CRX	Benign/Likely benign	61748445	RCV000086004\|RCV000178122\|RCV000347317\|RCV000308806\|RCV000390414\|RCV001081848\|RCV002498461;	N	MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013449,MedGen:C3151192	19	48342796	48342796	19:g.48342796G>A	ClinGen:CA202718,UniProtKB:O43186#VAR_007948	CN074280 120970 Cone-rod dystrophy 2;
NM_000554.6(CRX):c.484A>C (p.Ile162Leu)	1406	CRX	Uncertain significance	-1	RCV003061497;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342808	48342808	NC_000019.9:g.48342808A>C	-
NM_000554.6(CRX):c.485T>C (p.Ile162Thr)	1406	CRX	Uncertain significance	745628043	RCV001318075;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342809	48342809	48342809	-
NM_000554.6(CRX):c.487T>C (p.Trp163Arg)	1406	CRX	Uncertain significance	779912365	RCV001242594\|RCV002285462;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MedGen:CN517202	19	48342811	48342811	19:g.48342811T>C	-
NM_000554.6(CRX):c.488G>A (p.Trp163Ter)	1406	CRX	Uncertain significance	-1	RCV003038465;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48342812	48342812	NC_000019.9:g.48342812G>A	-
NM_000554.6(CRX):c.491G>A (p.Ser164Asn)	1406	CRX	Uncertain significance	1039194669	RCV001065467\|RCV002555842;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MeSH:D030342,MedGen:C0950123	19	48342815	48342815	19:g.48342815G>A	-
NM_000554.6(CRX):c.494del (p.Pro165fs)	1406	CRX	Uncertain significance	2123743155	RCV001974438;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48342816	48342816	48342815	-
NM_000554.6(CRX):c.497C>A (p.Ala166Asp)	1406	CRX	Uncertain significance	-1	RCV002631302;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342821	48342821	NC_000019.9:g.48342821C>A	-
NM_000554.6(CRX):c.501del (p.Glu168fs)	1406	CRX	Uncertain significance	2123743175	RCV001966147;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342825	48342825	48342824	-
NM_000554.6(CRX):c.509del (p.Pro170fs)	1406	CRX	Uncertain significance	2123743184	RCV001864785;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48342830	48342830	48342829	-
NM_000554.6(CRX):c.513G>C (p.Leu171Phe)	1406	CRX	Uncertain significance	773154643	RCV001373693;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48342837	48342837	48342837	-
NM_000554.6(CRX):c.521C>T (p.Ala174Val)	1406	CRX	Uncertain significance	771028537	RCV001903458;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48342845	48342845	48342845	-
NM_000554.6(CRX):c.522G>A (p.Ala174=)	1406	CRX	Likely benign	376827106	RCV001406095;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48342846	48342846	48342846	-
NM_000554.6(CRX):c.523C>T (p.Gln175Ter)	1406	CRX	Conflicting interpretations of pathogenicity	1968167093	RCV001250585\|RCV002287485\|RCV002570426;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0007706,Human Phenotype Ontology:HP:0007875,MedGen:C0005754\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:61	19	48342847	48342847	19:g.48342847C>T	-
NM_000554.6(CRX):c.526C>T (p.Arg176Trp)	1406	CRX	Uncertain significance	543243551	RCV002024592;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342850	48342850	48342850	-
NM_000554.6(CRX):c.526C>G (p.Arg176Gly)	1406	CRX	Uncertain significance	543243551	RCV002025171;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342850	48342850	48342850	-
NM_000554.6(CRX):c.529del (p.Ala177fs)	1406	CRX	Uncertain significance	61748449	RCV000055824\|RCV000086008\|RCV002515745;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MedGen:CN517202\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342851	48342851	19:g.48342851_48342851del	ClinGen:CA227632	C3151192 613829 Leber congenital amaurosis 7;
NM_000554.6(CRX):c.533G>C (p.Gly178Ala)	1406	CRX	Uncertain significance	926713896	RCV001930438;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342857	48342857	48342857	-
NM_000554.6(CRX):c.534G>C (p.Gly178=)	1406	CRX	Likely benign	-1	RCV003089287;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342858	48342858		-
NM_000554.6(CRX):c.537G>A (p.Leu179=)	1406	CRX	Likely benign	753262074	RCV001454169;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48342861	48342861	48342861	-
NM_000554.6(CRX):c.541_542del (p.Ala181fs)	1406	CRX	Uncertain significance	-1	RCV002812113;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342865	48342866	NC_000019.9:g.48342865_48342866del	-
NM_000554.6(CRX):c.543C>A (p.Ala181=)	1406	CRX	Likely benign	-1	RCV002842266;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48342867	48342867		-
NM_000554.6(CRX):c.549G>A (p.Gly183=)	1406	CRX	Conflicting interpretations of pathogenicity	61748451	RCV000086010\|RCV001132601\|RCV001132602\|RCV001132603\|RCV001474134;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829,Orp	19	48342873	48342873	19:g.48342873G>A	ClinGen:CA227634	CN517202 not provided;
NM_000554.6(CRX):c.551C>T (p.Pro184Leu)	1406	CRX	Benign/Likely benign	147558800	RCV000307457\|RCV000369179\|RCV000402156\|RCV000615113\|RCV000955564;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MedGen:	19	48342875	48342875	NC_000019.9:g.48342875C>T	ClinGen:CA9544514	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.552G>A (p.Pro184=)	1406	CRX	Likely benign	779118593	RCV001468846;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48342876	48342876	48342876	-
NM_000554.6(CRX):c.555T>A (p.Ser185=)	1406	CRX	Likely benign	-1	RCV002881666;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48342879	48342879		-
NM_000554.6(CRX):c.557del (p.Leu186fs)	1406	CRX	Uncertain significance	-1	RCV002962432;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48342881	48342881	NC_000019.9:g.48342881del	-
NM_000554.6(CRX):c.560C>T (p.Thr187Ile)	1406	CRX	Uncertain significance	758125850	RCV001905659;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48342884	48342884	48342884	-
NM_000554.6(CRX):c.564C>T (p.Ser188=)	1406	CRX	Likely benign	148622001	RCV001500571;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48342888	48342888	48342888	-
NM_000554.6(CRX):c.565G>C (p.Ala189Pro)	1406	CRX	Uncertain significance	142111462	RCV001135986\|RCV001135987\|RCV001135988\|RCV001349508\|RCV002556891;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:M	19	48342889	48342889	19:g.48342889G>C	-
NM_000554.6(CRX):c.565G>A (p.Ala189Thr)	1406	CRX	Uncertain significance	142111462	RCV001920351;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48342889	48342889	48342889	-
NM_000554.6(CRX):c.575C>A (p.Ala192Asp)	1406	CRX	Uncertain significance	-1	RCV002775322;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48342899	48342899	NC_000019.9:g.48342899C>A	-
NM_000554.6(CRX):c.578T>A (p.Met193Lys)	1406	CRX	Uncertain significance	771206912	RCV002047490;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342902	48342902	48342902	-
NM_000554.6(CRX):c.581C>A (p.Thr194Asn)	1406	CRX	Uncertain significance	774657041	RCV001213857;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48342905	48342905	19:g.48342905C>A	-
NM_000554.6(CRX):c.585C>T (p.Tyr195=)	1406	CRX	Likely benign	373497612	RCV001426974;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48342909	48342909	48342909	-
NM_000554.6(CRX):c.587C>T (p.Ala196Val)	1406	CRX	Uncertain significance	1372852556	RCV002050607;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342911	48342911	48342911	-
NM_000554.6(CRX):c.591_594dup (p.Ser199fs)	1406	CRX	Uncertain significance	-1	RCV002835327;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342912	48342913	NC_000019.9:g.48342915_48342918dup	-
NM_000554.6(CRX):c.590C>T (p.Pro197Leu)	1406	CRX	Uncertain significance	761290111	RCV001239949\|RCV002563962;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MeSH:D030342,MedGen:C0950123	19	48342914	48342914	19:g.48342914C>T	-
NM_000554.6(CRX):c.591G>A (p.Pro197=)	1406	CRX	Benign	769009205	RCV002065581;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48342915	48342915	19:g.48342915G>A	-
NM_000554.6(CRX):c.592del (p.Ala198fs)	1406	CRX	Uncertain significance	1968169272	RCV001347754;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342915	48342915	48342914	-
NM_000554.6(CRX):c.594_606del (p.Ser199fs)	1406	CRX	Conflicting interpretations of pathogenicity	1968169319	RCV001040835\|RCV001073684;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontolog	19	48342916	48342928	19:g.48342916_48342928del	-
NM_000554.6(CRX):c.593C>T (p.Ala198Val)	1406	CRX	Uncertain significance	776232503	RCV001343143;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342917	48342917	48342917	-
NM_000554.6(CRX):c.594C>T (p.Ala198=)	1406	CRX	Likely benign	1186532132	RCV002101602;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342918	48342918	48342918	-
NM_000554.6(CRX):c.597del (p.Ala200fs)	1406	CRX	Uncertain significance	2123743359	RCV002013147;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342920	48342920	48342919	-
NM_000554.6(CRX):c.597C>T (p.Ser199=)	1406	CRX	Conflicting interpretations of pathogenicity	61748455	RCV000086014\|RCV000277021\|RCV000311321\|RCV000368298\|RCV001080501;	N	MedGen:CN517202\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orph	19	48342921	48342921	19:g.48342921C>T	ClinGen:CA227639	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.606C>T (p.Cys202=)	1406	CRX	Conflicting interpretations of pathogenicity	764877352	RCV001129005\|RCV001129007\|RCV001129006\|RCV002558263;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:M	19	48342930	48342930	19:g.48342930C>T	-
NM_000554.6(CRX):c.615del (p.Ser206fs)	1406	CRX	Uncertain significance	281865516	RCV000007849\|RCV000086015\|RCV001854501;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MedGen:CN517202\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342935	48342935	19:g.48342935_48342935del	ClinGen:CA227641,OMIM:602225.0009	CN517202 not provided;
NM_000554.6(CRX):c.616T>C (p.Ser206Pro)	1406	CRX	Uncertain significance	1193377720	RCV001129008\|RCV001129009\|RCV001129010;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	19	48342940	48342940	19:g.48342940T>C	-
NM_000554.6(CRX):c.618C>T (p.Ser206=)	1406	CRX	Benign/Likely benign	145117150	RCV000341530\|RCV000954354;	N	MedGen:CN169374\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48342942	48342942	19:g.48342942C>T	ClinGen:CA9544535	CN169374 not specified;
NM_000554.6(CRX):c.619G>A (p.Ala207Thr)	1406	CRX	Uncertain significance	376982187	RCV002000731;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342943	48342943	48342943	-
NM_000554.6(CRX):c.624T>G (p.Tyr208Ter)	1406	CRX	Uncertain significance	2123743395	RCV001991880;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342948	48342948	48342948	-
NM_000554.6(CRX):c.626G>A (p.Gly209Glu)	1406	CRX	Uncertain significance	1968170166	RCV001324861;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48342950	48342950	48342950	-
NM_000554.6(CRX):c.632C>T (p.Pro211Leu)	1406	CRX	Uncertain significance	559042370	RCV002025055;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342956	48342956	48342956	-
NM_000554.6(CRX):c.633G>A (p.Pro211=)	1406	CRX	Likely benign	-1	RCV002805511;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342957	48342957		-
NM_000554.6(CRX):c.645C>T (p.Phe215=)	1406	CRX	Benign	191794330	RCV002109861;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48342969	48342969	48342969	-
NM_000554.6(CRX):c.648C>T (p.Ser216=)	1406	CRX	Likely benign	772398140	RCV002176969;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342972	48342972	48342972	-
NM_000554.6(CRX):c.649G>A (p.Gly217Ser)	1406	CRX	Uncertain significance	146869548	RCV001894872\|RCV003264156;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MeSH:D030342,MedGen:C0950123	19	48342973	48342973	48342973	-
NM_000554.6(CRX):c.651C>T (p.Gly217=)	1406	CRX	Uncertain significance	1968170615	RCV001129012\|RCV001129011\|RCV001131693;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48342975	48342975	19:g.48342975C>T	-
NM_000554.6(CRX):c.660dup (p.Tyr221fs)	1406	CRX	Uncertain significance	864309707	RCV001312312;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342980	48342981	48342980	-
NM_000554.6(CRX):c.660del (p.Tyr221fs)	1406	CRX	Conflicting interpretations of pathogenicity	864309707	RCV000203269\|RCV002517362;	N	MONDO:MONDO:0007934,MedGen:C5561925,OMIM:153870, Orphanet:251287\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342981	48342981	19:g.48342981_48342981del	ClinGen:CA339652	C1828210 153870 Bull's eye maculopathy;
NM_000554.6(CRX):c.658C>A (p.Pro220Thr)	1406	CRX	Uncertain significance	-1	RCV003088026;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342982	48342982	NC_000019.9:g.48342982C>A	-
NM_000554.6(CRX):c.661del (p.Tyr221fs)	1406	CRX	Conflicting interpretations of pathogenicity	864309708	RCV000203272\|RCV001361118;	N	MONDO:MONDO:0007934,MedGen:C5561925,OMIM:153870, Orphanet:251287\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342985	48342985	NC_000019.9:g.48342985del	ClinGen:CA339653	C1828210 153870 Bull's eye maculopathy;
NM_000554.6(CRX):c.673A>C (p.Met225Leu)	1406	CRX	Uncertain significance	765976845	RCV001983091;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342997	48342997	48342997	-
NM_000554.6(CRX):c.675G>C (p.Met225Ile)	1406	CRX	Uncertain significance	-1	RCV003020810;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48342999	48342999	NC_000019.9:g.48342999G>C	-
NM_000554.6(CRX):c.678G>A (p.Val226=)	1406	CRX	Likely benign	-1	RCV002971207;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48343002	48343002		-
NM_000554.6(CRX):c.684G>C (p.Gln228His)	1406	CRX	Uncertain significance	756105390	RCV000787587\|RCV002536890;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48343008	48343008	19:g.48343008G>C	-
NM_000554.6(CRX):c.688G>C (p.Gly230Arg)	1406	CRX	Uncertain significance	1461832129	RCV001362598;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48343012	48343012	48343012	-
NM_000554.6(CRX):c.690G>T (p.Gly230=)	1406	CRX	Likely benign	936709261	RCV002155654;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48343014	48343014	48343014	-
NM_000554.6(CRX):c.695C>T (p.Pro232Leu)	1406	CRX	Uncertain significance	-1	RCV003093598;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48343019	48343019	NC_000019.9:g.48343019C>T	-
NM_000554.6(CRX):c.696G>A (p.Pro232=)	1406	CRX	Likely benign	1466177047	RCV002080455;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48343020	48343020	48343020	-
NM_000554.6(CRX):c.702T>C (p.Leu234=)	1406	CRX	Uncertain significance	992252014	RCV001204784;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48343026	48343026	19:g.48343026T>C	-
NM_000554.6(CRX):c.709C>A (p.Leu237Ile)	1406	CRX	Uncertain significance	-1	RCV002651159;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48343033	48343033	NC_000019.9:g.48343033C>A	-
NM_000554.6(CRX):c.713C>A (p.Ser238Tyr)	1406	CRX	Uncertain significance	1968172066	RCV001341176;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48343037	48343037	48343037	-
NM_000554.6(CRX):c.714del (p.Gly239fs)	1406	CRX	Uncertain significance	-1	RCV002885281;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48343038	48343038	NC_000019.9:g.48343038del	-
NM_000554.6(CRX):c.717C>A (p.Gly239=)	1406	CRX	Conflicting interpretations of pathogenicity	886054546	RCV000261856\|RCV000319418\|RCV000371926\|RCV002057520;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:M	19	48343041	48343041	NC_000019.9:g.48343041C>A	ClinGen:CA10643043	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.719C>T (p.Pro240Leu)	1406	CRX	Uncertain significance	-1	RCV003008308;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48343043	48343043	NC_000019.9:g.48343043C>T	-
NM_000554.6(CRX):c.720C>G (p.Pro240=)	1406	CRX	Likely benign	748655180	RCV001487615;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48343044	48343044	48343044	-
NM_000554.6(CRX):c.724G>A (p.Val242Met)	1406	CRX	Benign/Likely benign	61748459	RCV000086018\|RCV000597336\|RCV000990238\|RCV001081597\|RCV002505020;	N	MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0008764,MedGen:C2931258,OMIM:204000, Orphanet:65\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MON	19	48343048	48343048	19:g.48343048G>A	ClinGen:CA227644,UniProtKB:O43186#VAR_007949	CN517202 not provided;
NM_000554.6(CRX):c.728dup (p.Pro244fs)	1406	CRX	Uncertain significance	1968172289	RCV001300693;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48343049	48343050	48343049	-
NM_000554.6(CRX):c.726G>A (p.Val242=)	1406	CRX	Likely benign	371406142	RCV002029430;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48343050	48343050	48343050	-
NM_000554.6(CRX):c.740C>T (p.Ala247Val)	1406	CRX	Uncertain significance	1196719242	RCV001309174;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48343064	48343064	48343064	-
NM_000554.6(CRX):c.740C>A (p.Ala247Asp)	1406	CRX	Uncertain significance	-1	RCV002895563;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48343064	48343064	NC_000019.9:g.48343064C>A	-
NM_000554.6(CRX):c.750del (p.Thr251fs)	1406	CRX	Uncertain significance	2123743577	RCV001940419;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48343070	48343070	48343069	-
NM_000554.6(CRX):c.747C>G (p.Ser249=)	1406	CRX	Likely benign	748748807	RCV002116610;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48343071	48343071	48343071	-
NM_000554.6(CRX):c.753del (p.Ser252fs)	1406	CRX	Uncertain significance	61749660	RCV000086019\|RCV001307244;	N	MedGen:CN517202\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48343076	48343076	19:g.48343076_48343076del	ClinGen:CA227645	CN517202 not provided;
NM_000554.6(CRX):c.755C>T (p.Ser252Phe)	1406	CRX	Uncertain significance	-1	RCV002947504;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48343079	48343079	NC_000019.9:g.48343079C>T	-
NM_000554.6(CRX):c.765C>T (p.Gly255=)	1406	CRX	Conflicting interpretations of pathogenicity	145913500	RCV001131694\|RCV001131695\|RCV001131696\|RCV001213963;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:M	19	48343089	48343089	19:g.48343089C>T	-
NM_000554.6(CRX):c.773A>G (p.Tyr258Cys)	1406	CRX	Uncertain significance	-1	RCV003039621;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48343097	48343097	NC_000019.9:g.48343097A>G	-
NM_000554.6(CRX):c.774T>C (p.Tyr258=)	1406	CRX	Likely benign	767273026	RCV002206562;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48343098	48343098	48343098	-
NM_000554.6(CRX):c.777C>T (p.Gly259=)	1406	CRX	Likely benign	-1	RCV003081281;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48343101	48343101		-
NM_000554.6(CRX):c.778G>A (p.Ala260Thr)	1406	CRX	Uncertain significance	370592248	RCV001365043;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48343102	48343102	48343102	-
NM_000554.6(CRX):c.783C>G (p.Tyr261Ter)	1406	CRX	Uncertain significance	2123743638	RCV002013505;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48343107	48343107	48343107	-
NM_000554.6(CRX):c.786C>T (p.Ser262=)	1406	CRX	Likely benign	-1	RCV003038422;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48343110	48343110		-
NM_000554.6(CRX):c.789C>T (p.Pro263=)	1406	CRX	Likely benign	550083287	RCV002149482;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48343113	48343113	48343113	-
NM_000554.6(CRX):c.790G>A (p.Val264Met)	1406	CRX	Uncertain significance	138146799	RCV001963840;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48343114	48343114	48343114	-
NM_000554.6(CRX):c.790G>T (p.Val264Leu)	1406	CRX	Uncertain significance	138146799	RCV001975511;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48343114	48343114	48343114	-
NM_000554.6(CRX):c.793G>T (p.Asp265Tyr)	1406	CRX	Uncertain significance	751790087	RCV001911795;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48343117	48343117	48343117	-
NM_000554.6(CRX):c.794A>T (p.Asp265Val)	1406	CRX	Uncertain significance	2123743660	RCV001365909;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48343118	48343118	48343118	-
NM_000554.6(CRX):c.798del (p.Leu267fs)	1406	CRX	Uncertain significance	2123743667	RCV001362092;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48343122	48343122	48343121	-
NM_000554.6(CRX):c.799T>G (p.Leu267Val)	1406	CRX	Uncertain significance	-1	RCV002638805;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48343123	48343123	NC_000019.9:g.48343123T>G	-
NM_000554.6(CRX):c.806_809dup (p.Lys270fs)	1406	CRX	Uncertain significance	1968173706	RCV001368920;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48343129	48343130	48343129	-
NM_000554.6(CRX):c.806T>A (p.Phe269Tyr)	1406	CRX	Uncertain significance	2123743672	RCV001918822;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48343130	48343130	48343130	-
NM_000554.6(CRX):c.818C>T (p.Thr273Met)	1406	CRX	Uncertain significance	281865203	RCV000086021\|RCV001241022;	N	MedGen:CN517202\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48343142	48343142	19:g.48343142C>T	ClinGen:CA227647	CN517202 not provided;
NM_000554.6(CRX):c.834C>A (p.Phe278Leu)	1406	CRX	Uncertain significance	-1	RCV002828814;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48343158	48343158	NC_000019.9:g.48343158C>A	-
NM_000554.6(CRX):c.841A>G (p.Asn281Asp)	1406	CRX	Uncertain significance	2123743725	RCV001359665;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48343165	48343165	48343165	-
NM_000554.6(CRX):c.844C>T (p.Pro282Ser)	1406	CRX	Uncertain significance	-1	RCV003039124;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48343168	48343168	NC_000019.9:g.48343168C>T	-
NM_000554.6(CRX):c.846C>A (p.Pro282=)	1406	CRX	Likely benign	1172429450	RCV001485431;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48343170	48343170	48343170	-
NM_000554.6(CRX):c.852C>T (p.Asp284=)	1406	CRX	Likely benign	771721958	RCV001396478;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48343176	48343176	48343176	-
NM_000554.6(CRX):c.856C>T (p.Leu286=)	1406	CRX	Likely benign	2123743743	RCV001449103;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48343180	48343180	48343180	-
NM_000554.6(CRX):c.857T>C (p.Leu286Pro)	1406	CRX	Uncertain significance	886054547	RCV000260824\|RCV000323112\|RCV000380030\|RCV002521241\|RCV002521240;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MeSH:D0	19	48343181	48343181	NC_000019.9:g.48343181T>C	ClinGen:CA10652152	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.863A>G (p.Tyr288Cys)	1406	CRX	Uncertain significance	-1	RCV003053193;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48343187	48343187	NC_000019.9:g.48343187A>G	-
NM_000554.6(CRX):c.871C>T (p.Gln291Ter)	1406	CRX	Uncertain significance	2123743754	RCV001367300;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48343195	48343195	48343195	-
NM_000554.6(CRX):c.876T>C (p.Ser292=)	1406	CRX	Likely benign	2123743757	RCV001409390;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65; MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48343200	48343200	48343200	-
NM_000554.6(CRX):c.893T>A (p.Ile298Asn)	1406	CRX	Uncertain significance	2123743769	RCV001947363;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872; MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48343217	48343217	48343217	-
NM_000554.6(CRX):c.*6G>A	1406	CRX	Conflicting interpretations of pathogenicity	375770558	RCV000283331\|RCV000340719\|RCV000383663;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48343230	48343230	NC_000019.9:g.48343230G>A	ClinGen:CA9544590	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*16T>C	1406	CRX	Conflicting interpretations of pathogenicity	371964860	RCV001132708\|RCV001132707\|RCV001132709;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48343240	48343240	19:g.48343240T>C	-
NM_000554.6(CRX):c.*19C>T	1406	CRX	Benign/Likely benign	79186398	RCV000287905\|RCV000347496\|RCV000399088;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48343243	48343243	NC_000019.9:g.48343243C>T	ClinGen:CA9544595	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*79C>T	1406	CRX	Uncertain significance	769100863	RCV001136109\|RCV001136108\|RCV001136110;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48343303	48343303	19:g.48343303C>T	-
NM_000554.6(CRX):c.*110C>A	1406	CRX	Uncertain significance	1968176550	RCV001129134\|RCV001136111\|RCV001136112;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48343334	48343334	19:g.48343334C>A	-
NM_000554.6(CRX):c.*117T>A	1406	CRX	Conflicting interpretations of pathogenicity	574641672	RCV001129135\|RCV001129136\|RCV001129137;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	19	48343341	48343341	19:g.48343341T>A	-
NM_000554.6(CRX):c.*118C>A	1406	CRX	Conflicting interpretations of pathogenicity	543729483	RCV000293631\|RCV000348576\|RCV000401350;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48343342	48343342	NC_000019.9:g.48343342C>A	ClinGen:CA10652624	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*132G>A	1406	CRX	Uncertain significance	886054548	RCV000313408\|RCV000354310\|RCV000392519;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	19	48343356	48343356	NC_000019.9:g.48343356G>A	ClinGen:CA10648895	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*205G>A	1406	CRX	Uncertain significance	995250251	RCV001131820\|RCV001131822\|RCV001131821;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	19	48343429	48343429	19:g.48343429G>A	-
NM_000554.6(CRX):c.*234G>A	1406	CRX	Uncertain significance	754333326	RCV000265328\|RCV000300377\|RCV000355260;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48343458	48343458	NC_000019.9:g.48343458G>A	ClinGen:CA10652153	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*252C>T	1406	CRX	Uncertain significance	886054549	RCV000270846\|RCV000320402\|RCV000360805;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48343476	48343476	NC_000019.9:g.48343476C>T	ClinGen:CA10643044	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*272T>C	1406	CRX	Uncertain significance	1286758532	RCV001132802\|RCV001132801\|RCV001132800;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	19	48343496	48343496	19:g.48343496T>C	-
NM_000554.6(CRX):c.*366C>T	1406	CRX	Conflicting interpretations of pathogenicity	560185740	RCV001132803\|RCV001132804\|RCV001136199;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	19	48343590	48343590	19:g.48343590C>T	-
NM_000554.6(CRX):c.*392G>A	1406	CRX	Uncertain significance	886054550	RCV000296826\|RCV000331801\|RCV000386432;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	19	48343616	48343616	NC_000019.9:g.48343616G>A	ClinGen:CA10648899	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*400A>T	1406	CRX	Benign	3848536	RCV000279125\|RCV000351163\|RCV000398174;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	19	48343624	48343624	19:g.48343624A>T	ClinGen:CA10652626	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*401A>C	1406	CRX	Benign	3848537	RCV000303694\|RCV000338808\|RCV000399605;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	19	48343625	48343625	19:g.48343625A>C	ClinGen:CA10643045	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*436G>T	1406	CRX	Uncertain significance	759530877	RCV000268883\|RCV000328670\|RCV000363398;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48343660	48343660	19:g.48343660G>T	ClinGen:CA10648900	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*498G>A	1406	CRX	Uncertain significance	1004933827	RCV001129242\|RCV001129243\|RCV001129244;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48343722	48343722	19:g.48343722G>A	-
NM_000554.6(CRX):c.*527C>T	1406	CRX	Benign/Likely benign	371749408	RCV000274724\|RCV000329783\|RCV000364444;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	19	48343751	48343751	NC_000019.9:g.48343751C>T	ClinGen:CA10652628	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*579T>C	1406	CRX	Benign	4356586	RCV000294852\|RCV000317184\|RCV000388979;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48343803	48343803	NC_000019.9:g.48343803T>C	ClinGen:CA10648901	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*591G>C	1406	CRX	Benign	3859430	RCV000281948\|RCV000337104\|RCV000371731;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48343815	48343815	NC_000019.9:g.48343815G>C	ClinGen:CA10643048	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*595C>T	1406	CRX	Conflicting interpretations of pathogenicity	111448395	RCV000283255\|RCV000342965\|RCV000377666;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	19	48343819	48343819	NC_000019.9:g.48343819C>T	ClinGen:CA10643051	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*679G>A	1406	CRX	Benign	112202398	RCV000306740\|RCV000347574\|RCV000390337;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48343903	48343903	NC_000019.9:g.48343903G>A	ClinGen:CA10643052	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*682C>T	1406	CRX	Benign	3859431	RCV000312437\|RCV000367168\|RCV000398573;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48343906	48343906	NC_000019.9:g.48343906C>T	ClinGen:CA10652157	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*683G>A	1406	CRX	Uncertain significance	867379668	RCV000277286\|RCV000313603\|RCV000354250;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	19	48343907	48343907	NC_000019.9:g.48343907G>A	ClinGen:CA10652630	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*727C>T	1406	CRX	Uncertain significance	1360823353	RCV001136332\|RCV001136330\|RCV001136331;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	19	48343951	48343951	19:g.48343951C>T	-
NM_000554.6(CRX):c.*746T>C	1406	CRX	Uncertain significance	886054552	RCV000285282\|RCV000345716\|RCV000381687;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	19	48343970	48343970	NC_000019.9:g.48343970T>C	ClinGen:CA10643053	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*756T>A	1406	CRX	Uncertain significance	886054553	RCV000292013\|RCV000346864\|RCV000394106;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48343980	48343980	NC_000019.9:g.48343980T>A	ClinGen:CA10652631	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*767G>A	1406	CRX	Conflicting interpretations of pathogenicity	544037698	RCV000311981\|RCV000352814\|RCV000390415;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48343991	48343991	NC_000019.9:g.48343991G>A	ClinGen:CA10652632	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*769G>A	1406	CRX	Benign	55835533	RCV000263767\|RCV000299184\|RCV000353978;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48343993	48343993	NC_000019.9:g.48343993G>A	ClinGen:CA10648902	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*809C>G	1406	CRX	Uncertain significance	574128797	RCV000264833\|RCV000300262\|RCV000359592;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	19	48344033	48344033	NC_000019.9:g.48344033C>G	ClinGen:CA10652160	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*839C>T	1406	CRX	Uncertain significance	541379131	RCV000268811\|RCV000324810\|RCV000360764;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48344063	48344063	NC_000019.9:g.48344063C>T	ClinGen:CA10652633	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*860C>T	1406	CRX	Benign/Likely benign	185098538	RCV000293311\|RCV000328577\|RCV000383228;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48344084	48344084	NC_000019.9:g.48344084C>T	ClinGen:CA10643065	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*907C>T	1406	CRX	Uncertain significance	559582292	RCV000294665\|RCV000329861\|RCV000389055;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48344131	48344131	NC_000019.9:g.48344131C>T	ClinGen:CA10643066	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*908G>A	1406	CRX	Uncertain significance	886054554	RCV000281884\|RCV000335632\|RCV000397653;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48344132	48344132	NC_000019.9:g.48344132G>A	ClinGen:CA10652635	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*966G>C	1406	CRX	Benign	3933489	RCV000301974\|RCV000337031\|RCV000400727;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48344190	48344190	NC_000019.9:g.48344190G>C	ClinGen:CA10652163	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*972C>G	1406	CRX	Benign/Likely benign	12462416	RCV000306820\|RCV000361408\|RCV000400555;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48344196	48344196	NC_000019.9:g.48344196C>G	ClinGen:CA10652636	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*996C>G	1406	CRX	Conflicting interpretations of pathogenicity	550939154	RCV000271568\|RCV000328839\|RCV000363813;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	19	48344220	48344220	NC_000019.9:g.48344220C>G	ClinGen:CA10648904	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*1046C>T	1406	CRX	Benign	62128808	RCV000274819\|RCV000332209\|RCV000367238;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48344270	48344270	NC_000019.9:g.48344270C>T	ClinGen:CA10648905	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*1063C>T	1406	CRX	Benign/Likely benign	143939023	RCV000278440\|RCV000316933\|RCV000389210;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	19	48344287	48344287	NC_000019.9:g.48344287C>T	ClinGen:CA10643069	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*1122G>C	1406	CRX	Benign	73576710	RCV000281627\|RCV000338965\|RCV000373918;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48344346	48344346	NC_000019.9:g.48344346G>C	ClinGen:CA10652164	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*1148G>C	1406	CRX	Likely benign	139073763	RCV000285370\|RCV000342568\|RCV000396220;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	19	48344372	48344372	NC_000019.9:g.48344372G>C	ClinGen:CA10652165	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*1149G>A	1406	CRX	Uncertain significance	886054555	RCV000309505\|RCV000366436\|RCV000396149;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	19	48344373	48344373	NC_000019.9:g.48344373G>A	ClinGen:CA10652637	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*1220G>A	1406	CRX	Benign/Likely benign	58323327	RCV000313107\|RCV000370130\|RCV000399628;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48344444	48344444	NC_000019.9:g.48344444G>A	ClinGen:CA10648908	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*1223A>G	1406	CRX	Uncertain significance	1968192567	RCV001133101\|RCV001133100\|RCV001134574;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48344447	48344447	19:g.48344447A>G	-
NM_000554.6(CRX):c.*1289G>A	1406	CRX	Benign	62128809	RCV000277515\|RCV000297489\|RCV000354639;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48344513	48344513	NC_000019.9:g.48344513G>A	ClinGen:CA10652638	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*1309T>C	1406	CRX	Uncertain significance	886054556	RCV000262703\|RCV000320228\|RCV000377055;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	19	48344533	48344533	NC_000019.9:g.48344533T>C	ClinGen:CA10648909	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*1330C>T	1406	CRX	Uncertain significance	1049141176	RCV001129550\|RCV001129549\|RCV001134575;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	19	48344554	48344554	19:g.48344554C>T	-
NM_000554.6(CRX):c.*1346G>A	1406	CRX	Benign	12462534	RCV000266270\|RCV000323506\|RCV000380361;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48344570	48344570	NC_000019.9:g.48344570G>A	ClinGen:CA10648912	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*1455T>A	1406	CRX	Benign	10418834	RCV000288387\|RCV000345755\|RCV000383157;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48344679	48344679	NC_000019.9:g.48344679T>A	ClinGen:CA10643071	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*1671G>A	1406	CRX	Benign/Likely benign	550538685	RCV000263094\|RCV000298249\|RCV000355561;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48344895	48344895	NC_000019.9:g.48344895G>A	ClinGen:CA10648917	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*1684G>A	1406	CRX	Conflicting interpretations of pathogenicity	141564522	RCV001132282\|RCV001132283\|RCV001133217;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48344908	48344908	19:g.48344908G>A	-
NM_000554.6(CRX):c.*1759G>T	1406	CRX	Uncertain significance	886054558	RCV000267014\|RCV000301913\|RCV000359083;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48344983	48344983	NC_000019.9:g.48344983G>T	ClinGen:CA10643080	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*1792C>T	1406	CRX	Benign	56226622	RCV000270467\|RCV000324431\|RCV000381303;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48345016	48345016	NC_000019.9:g.48345016C>T	ClinGen:CA10648918	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*1917G>A	1406	CRX	Conflicting interpretations of pathogenicity	557773336	RCV000278381\|RCV000351076\|RCV000389164;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	19	48345141	48345141	NC_000019.9:g.48345141G>A	ClinGen:CA10648925	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*1961G>A	1406	CRX	Benign/Likely benign	117186518	RCV000300503\|RCV000335807\|RCV000397748;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48345185	48345185	NC_000019.9:g.48345185G>A	ClinGen:CA10643082	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*2017C>T	1406	CRX	Benign/Likely benign	73038753	RCV000303937\|RCV000339044\|RCV000400217;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	19	48345241	48345241	NC_000019.9:g.48345241C>T	ClinGen:CA10652640	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*2039C>T	1406	CRX	Conflicting interpretations of pathogenicity	189556251	RCV000307672\|RCV000361147\|RCV000401185;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48345263	48345263	NC_000019.9:g.48345263C>T	ClinGen:CA10643083	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*2040G>A	1406	CRX	Conflicting interpretations of pathogenicity	139340702	RCV001129660\|RCV001129661\|RCV001129662;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	19	48345264	48345264	19:g.48345264G>A	-
NM_000554.6(CRX):c.*2106C>T	1406	CRX	Benign	12982537	RCV000273084\|RCV000330531\|RCV000364650;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	19	48345330	48345330	19:g.48345330C>T	ClinGen:CA10652167	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*2113A>G	1406	CRX	Uncertain significance	555800382	RCV000276431\|RCV000333843\|RCV000368889;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48345337	48345337	19:g.48345337A>G	ClinGen:CA10652168	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*2137G>A	1406	CRX	Conflicting interpretations of pathogenicity	181823708	RCV000279799\|RCV000318530\|RCV000372070;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48345361	48345361	19:g.48345361G>A	ClinGen:CA10652641	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*2155G>A	1406	CRX	Benign	113560570	RCV000283747\|RCV000341233\|RCV000375950;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48345379	48345379	19:g.48345379G>A	ClinGen:CA10652169	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*2171C>T	1406	CRX	Benign	77875912	RCV000287172\|RCV000344513\|RCV000396134;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48345395	48345395	NC_000019.9:g.48345395C>T	ClinGen:CA10652646	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*2183T>C	1406	CRX	Benign	7259671	RCV000309617\|RCV000366857\|RCV000396142;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48345407	48345407	NC_000019.9:g.48345407T>C	ClinGen:CA10652651	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*2225A>G	1406	CRX	Uncertain significance	1968205705	RCV001134771\|RCV001134773\|RCV001134772;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	19	48345449	48345449	19:g.48345449A>G	-
NM_000554.6(CRX):c.*2299C>T	1406	CRX	Benign/Likely benign	73038757	RCV000313261\|RCV000370276\|RCV000398419;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	19	48345523	48345523	NC_000019.9:g.48345523C>T	ClinGen:CA10652653	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*2343G>A	1406	CRX	Uncertain significance	928747077	RCV001129785\|RCV001129786\|RCV001129787;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48345567	48345567	19:g.48345567G>A	-
NM_000554.6(CRX):c.*2357G>A	1406	CRX	Uncertain significance	1053302157	RCV001129789\|RCV001129790\|RCV001129788;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	19	48345581	48345581	19:g.48345581G>A	-
NM_000554.6(CRX):c.*2375G>A	1406	CRX	Benign/Likely benign	188212480	RCV000259395\|RCV000316943\|RCV000355469;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	19	48345599	48345599	NC_000019.9:g.48345599G>A	ClinGen:CA10652654	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*2380C>T	1406	CRX	Benign	62128810	RCV000262999\|RCV000320552\|RCV000377544;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48345604	48345604	NC_000019.9:g.48345604C>T	ClinGen:CA10652655	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*2396C>T	1406	CRX	Benign/Likely benign	374128749	RCV000289359\|RCV000325633\|RCV000380212;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48345620	48345620	NC_000019.9:g.48345620C>T	ClinGen:CA10652657	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*2402G>T	1406	CRX	Uncertain significance	901623400	RCV001133407\|RCV001133408\|RCV001133409;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	19	48345626	48345626	19:g.48345626G>T	-
NM_000554.6(CRX):c.*2404C>T	1406	CRX	Uncertain significance	544403161	RCV001133410\|RCV001133411\|RCV001133412;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48345628	48345628	19:g.48345628C>T	-
NM_000554.6(CRX):c.*2485C>T	1406	CRX	Uncertain significance	564202140	RCV000285817\|RCV000340688\|RCV000395379;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	19	48345709	48345709	NC_000019.9:g.48345709C>T	ClinGen:CA10643084	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*2539C>T	1406	CRX	Conflicting interpretations of pathogenicity	146417527	RCV000282067\|RCV000337066\|RCV000395396;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	19	48345763	48345763	NC_000019.9:g.48345763C>T	ClinGen:CA10643087	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*2544G>A	1406	CRX	Uncertain significance	1281739542	RCV001134891\|RCV001134889\|RCV001134890;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	19	48345768	48345768	19:g.48345768G>A	-
NM_000554.6(CRX):c.*2559G>C	1406	CRX	Benign	12463238	RCV000297411\|RCV000352013\|RCV000402061;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48345783	48345783	NC_000019.9:g.48345783G>C	ClinGen:CA10652171	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*2573C>T	1406	CRX	Uncertain significance	886054559	RCV000272269\|RCV000312576\|RCV000367217;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48345797	48345797	NC_000019.9:g.48345797C>T	ClinGen:CA10652173	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*2580G>A	1406	CRX	Uncertain significance	1968211334	RCV001129866\|RCV001129868\|RCV001129867;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48345804	48345804	19:g.48345804G>A	-
NM_000554.6(CRX):c.*2589T>C	1406	CRX	Uncertain significance	530478127	RCV001130587\|RCV001130586\|RCV001130585;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	19	48345813	48345813	19:g.48345813T>C	-
NM_000554.6(CRX):c.*2602C>T	1406	CRX	Benign/Likely benign	562310108	RCV000268734\|RCV000308708\|RCV000363273;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48345826	48345826	NC_000019.9:g.48345826C>T	ClinGen:CA10652174	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*2611G>A	1406	CRX	Uncertain significance	1329072003	RCV001130588\|RCV001130589\|RCV001133531;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48345835	48345835	19:g.48345835G>A	-
NM_000554.6(CRX):c.*2704C>T	1406	CRX	Benign	12974951	RCV000265375\|RCV000323965\|RCV000378501;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	19	48345928	48345928	NC_000019.9:g.48345928C>T	ClinGen:CA10643088	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*2717G>T	1406	CRX	Benign	11666203	RCV000280021\|RCV000320515\|RCV000374618;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	19	48345941	48345941	NC_000019.9:g.48345941G>T	ClinGen:CA10648926	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*2739G>A	1406	CRX	Conflicting interpretations of pathogenicity	149039830	RCV000295144\|RCV000335037\|RCV000389522;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	19	48345963	48345963	NC_000019.9:g.48345963G>A	ClinGen:CA10648928	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*2758C>A	1406	CRX	Benign/Likely benign	117717088	RCV000310418\|RCV000350125\|RCV000394054;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48345982	48345982	NC_000019.9:g.48345982C>A	ClinGen:CA10652661	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*2785C>T	1406	CRX	Uncertain significance	886054560	RCV000307332\|RCV000346975\|RCV000394056;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48346009	48346009	NC_000019.9:g.48346009C>T	ClinGen:CA10652663	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*2821G>A	1406	CRX	Uncertain significance	571610746	RCV000267436\|RCV000303813\|RCV000362112;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	19	48346045	48346045	NC_000019.9:g.48346045G>A	ClinGen:CA10652175	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*2850G>A	1406	CRX	Uncertain significance	769789306	RCV000263803\|RCV000318013\|RCV000358596;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48346074	48346074	NC_000019.9:g.48346074G>A	ClinGen:CA10652664	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*2889G>A	1406	CRX	Uncertain significance	886054561	RCV000293513\|RCV000348448\|RCV000387803;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48346113	48346113	NC_000019.9:g.48346113G>A	ClinGen:CA10652666	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*2935G>T	1406	CRX	Uncertain significance	1968215891	RCV001130700\|RCV001130701\|RCV001130699;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48346159	48346159	19:g.48346159G>T	-
NM_000554.6(CRX):c.*2937T>C	1406	CRX	Benign	7248427	RCV000290633\|RCV000345551\|RCV000384422;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	19	48346161	48346161	NC_000019.9:g.48346161T>C	ClinGen:CA10652176	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*2952G>A	1406	CRX	Uncertain significance	886054562	RCV000287041\|RCV000341936\|RCV000396052;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48346176	48346176	NC_000019.9:g.48346176G>A	ClinGen:CA10643090	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*2979T>C	1406	CRX	Uncertain significance	1968216535	RCV001133655\|RCV001133656\|RCV001133657;	N	Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48346203	48346203	19:g.48346203T>C	-
NM_000554.6(CRX):c.*3017C>T	1406	CRX	Benign	11666244	RCV000302277\|RCV000357027\|RCV000396071;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	19	48346241	48346241	NC_000019.9:g.48346241C>T	ClinGen:CA10648931	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*3077C>G	1406	CRX	Uncertain significance	965939233	RCV001135151\|RCV001135152\|RCV001135153;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48346301	48346301	19:g.48346301C>G	-
NM_000554.6(CRX):c.*3099C>T	1406	CRX	Uncertain significance	1968218106	RCV001130121\|RCV001135155\|RCV001135154;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	19	48346323	48346323	19:g.48346323C>T	-
NM_000554.6(CRX):c.*3117A>G	1406	CRX	Benign/Likely benign	116336713	RCV001130124\|RCV001130122\|RCV001130123;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791	19	48346341	48346341	19:g.48346341A>G	-
NM_000554.6(CRX):c.*3238G>A	1406	CRX	Benign	4081725	RCV000297317\|RCV000370735\|RCV000398918;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48346462	48346462	NC_000019.9:g.48346462G>A	ClinGen:CA10652177	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*3279C>T	1406	CRX	Benign	11666316	RCV000276002\|RCV000331297\|RCV000367274;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48346503	48346503	NC_000019.9:g.48346503C>T	ClinGen:CA10643091	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*3285C>G	1406	CRX	Benign	62128811	RCV000272632\|RCV000327753\|RCV000381913;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	19	48346509	48346509	NC_000019.9:g.48346509C>G	ClinGen:CA10648933	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*3301T>C	1406	CRX	Benign	11670620	RCV000287438\|RCV000323868\|RCV000378432;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65	19	48346525	48346525	NC_000019.9:g.48346525T>C	ClinGen:CA10652178	CN239348 Cone-Rod Dystrophy, Dominant;
NM_000554.6(CRX):c.*2880T>C	-1	CRX;TPRX2	Conflicting interpretations of pathogenicity	142202442	RCV000259323\|RCV000333201\|RCV000372681\|RCV003422307;	N	MONDO:MONDO:0013449,MedGen:C3151192,OMIM:613829, Orphanet:65\|MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791\|MedGen:	19	48346104	48346104	NC_000019.9:g.48346104T>C	ClinGen:CA10648929	CN239348 Cone-Rod Dystrophy, Dominant;
NM_006017.3(PROM1):c.2077-521A>G	8842	PROM1	Pathogenic/Likely pathogenic	796051882	RCV000186496\|RCV001074060;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872\|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontology:HP:0007974,Human Phenotype Ontology:HP:0007982,MONDO:MONDO	4	15989860	15989860	4:g.15989860T>C	ClinGen:CA203986	CN074280 120970 Cone-rod dystrophy 2;
NM_006017.3(PROM1):c.1150_1151del (p.Arg384fs)	8842	PROM1	Pathogenic	1726238223	RCV001255713;	N	MONDO:MONDO:0007362,MedGen:C3489532,OMIM:120970, Orphanet:1872	4	16010722	16010723	4:g.16010722_16010723del	-

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