Advanced Search (OLGA)

Gene: PRPF6 (pre-mRNA processing factor 6) Homo sapiens

Analyze

Symbol:

PRPF6

Name:

pre-mRNA processing factor 6

RGD ID:

1316097

HGNC Page

HGNC:15860

Description:

Enables several functions, including identical protein binding activity; protein-macromolecule adaptor activity; and ribonucleoprotein complex binding activity. Involved in spliceosomal tri-snRNP complex assembly. Acts upstream of or within RNA localization and positive regulation of transcription by RNA polymerase II. Located in cytosol; microtubule organizing center; and nuclear speck. Part of nucleus. Implicated in retinitis pigmentosa 60.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

androgen receptor N-terminal domain transactivating protein-1; androgen receptor N-terminal domain-transactivating protein 1; ANT-1; ANT1; C20orf14; chromosome 20 open reading frame 14; hPrp6; p102 U5 small nuclear ribonucleoprotein particle-binding protein; pre-mRNA-processing factor 6; Prp6; PRP6 homolog; PRP6 pre-mRNA processing factor 6 homolog; putative mitochondrial outer membrane protein import receptor; RP60; SNRNP102; TOM; U5 snRNP-associated 102 kDa protein; U5-102 kDa protein; U5-102K

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Prpf6 (pre-mRNA splicing factor 6)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Prpf6 (pre-mRNA processing factor 6)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, Panther, PhylomeDB
Pan paniscus (bonobo/pygmy chimpanzee):	PRPF6 (pre-mRNA processing factor 6)	NCBI	Ortholog
Canis lupus familiaris (dog):	PRPF6 (pre-mRNA processing factor 6)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Prpf6 (pre-mRNA processing factor 6)	NCBI	Ortholog
Sus scrofa (pig):	PRPF6 (pre-mRNA processing factor 6)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	PRPF6 (pre-mRNA processing factor 6)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Prpf6 (pre-mRNA processing factor 6)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Linc00176 (long intergenic non-protein coding RNA 176)	HGNC	Ensembl, Inparanoid, OrthoDB, PhylomeDB
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Prpf6 (pre-mRNA processing factor 6)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Prpf6 (pre-mRNA splicing factor 6)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	prpf6 (PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae))	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Saccharomyces cerevisiae (baker's yeast):	PRP6	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	CG6841	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	prp-6	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	prpf6	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB)
Xenopus laevis (African clawed frog):	prpf6.L	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	prpf6.S	Alliance	DIOPT (Xenbase)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	20	63,981,132 - 64,033,100 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	20	63,981,132 - 64,033,100 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	20	62,612,485 - 62,664,453 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	20	62,082,875 - 62,134,897 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	20	62,082,900 - 62,134,895	NCBI
Celera	20	59,299,064 - 59,350,558 (+)	NCBI		Celera
Cytogenetic Map	20	q13.33	NCBI
HuRef	20	59,347,184 - 59,398,551 (+)	NCBI		HuRef
CHM1_1	20	62,513,489 - 62,564,783 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	20	65,800,894 - 65,853,046 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autosomal dominant nocturnal frontal lobe epilepsy (IAGP)

benign familial infantile seizures 6 (IAGP)

developmental and epileptic encephalopathy (IAGP)

developmental and epileptic encephalopathy 33 (IAGP)

early infantile epileptic encephalopathy (IAGP)

fundus dystrophy (IAGP)

retinitis pigmentosa (IAGP)

retinitis pigmentosa 60 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

1-chloro-2,4-dinitrobenzene (EXP)

17alpha-ethynylestradiol (ISO)

17beta-estradiol (EXP)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2,3,7,8-Tetrachlorodibenzofuran (ISO)

2-hydroxypropanoic acid (EXP)

3,4-methylenedioxymethamphetamine (ISO)

6-propyl-2-thiouracil (ISO)

aflatoxin B1 (ISO)

Aroclor 1254 (ISO)

arsenite(3-) (ISO)

benzatropine (EXP)

benzo[a]pyrene (ISO)

bisphenol A (EXP,ISO)

bortezomib (EXP)

cadmium atom (EXP)

cadmium dichloride (EXP)

caffeine (EXP)

cannabidiol (EXP)

carbon nanotube (ISO)

chlorpyrifos (ISO)

clofibrate (ISO)

clozapine (EXP)

coumarin (EXP)

Cuprizon (EXP)

cyclosporin A (EXP)

Dibutyl phosphate (EXP)

disodium selenite (EXP)

elemental selenium (EXP)

ethanol (ISO)

fenthion (ISO)

folic acid (ISO)

FR900359 (EXP)

geldanamycin (EXP)

genistein (ISO)

ivermectin (EXP)

methimazole (ISO)

methotrexate (EXP)

nitrates (ISO)

paraquat (ISO)

perfluorononanoic acid (EXP)

perfluorooctane-1-sulfonic acid (EXP)

perfluorooctanoic acid (EXP)

phenobarbital (ISO)

pregnenolone 16alpha-carbonitrile (ISO)

rac-lactic acid (EXP)

resveratrol (EXP,ISO)

rotenone (ISO)

selenium atom (EXP)

sodium arsenite (EXP)

sulfadimethoxine (ISO)

T-2 toxin (EXP)

Tanshinone I (EXP)

testosterone (ISO)

thimerosal (EXP)

titanium dioxide (ISO)

troglitazone (ISO)

tungsten (ISO)

valproic acid (EXP)

vitamin E (EXP)

vorinostat (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

mRNA processing (IEA)

mRNA splicing, via spliceosome (IBA,IC,IDA,IEA,NAS)

positive regulation of transcription by RNA polymerase II (IDA)

RNA localization (IMP)

RNA splicing (IEA,NAS)

RNA splicing, via transesterification reactions (NAS)

spliceosomal complex assembly (NAS)

spliceosomal tri-snRNP complex assembly (IBA,IC,IDA,IMP)

Cellular Component

catalytic step 2 spliceosome (IBA,IDA)

centrosome (IDA)

ciliary basal body (IDA)

cytosol (IDA)

intracellular membrane-bounded organelle (IDA)

membrane (HDA)

nuclear speck (IDA,IEA)

nucleoplasm (IDA,IEA,TAS)

nucleus (IDA,IEA,NAS)

spliceosomal complex (IEA,NAS)

U2-type precatalytic spliceosome (IDA)

U4/U6 x U5 tri-snRNP complex (IBA,IDA,IPI)

U5 snRNP (IDA)

Molecular Function

identical protein binding (IPI)

protein binding (IPI)

protein-macromolecule adaptor activity (IDA)

ribonucleoprotein complex binding (IDA)

RNA binding (HDA,IDA)

Molecular Pathway Annotations Click to see Annotation Detail View

spliceosome pathway (IEA,TAS)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal central response of multifocal electroretinogram (IAGP)

Abnormal electroretinogram (IAGP)

Abnormal full-field electroretinogram (IAGP)

Abnormal retinal vascular morphology (IAGP)

Abnormality of retinal pigmentation (IAGP)

Attenuation of retinal blood vessels (IAGP)

Autosomal dominant inheritance (IAGP)

Blindness (IAGP)

Bone spicule pigmentation of the retina (IAGP)

Color vision defect (IAGP)

Conductive hearing impairment (IAGP)

Constriction of peripheral visual field (IAGP)

Cystoid macular edema (IAGP)

Glaucoma (IAGP)

Hyperinsulinemia (IAGP)

Keratoconus (IAGP)

Nyctalopia (IAGP)

Nystagmus (IAGP)

Ophthalmoplegia (IAGP)

Optic atrophy (IAGP)

Optic disc drusen (IAGP)

Optic disc pallor (IAGP)

Peripheral visual field loss (IAGP)

Photophobia (IAGP)

Photopsia (IAGP)

Photoreceptor outer segment loss on macular OCT (IAGP)

Posterior subcapsular cataract (IAGP)

Progressive night blindness (IAGP)

Reduced visual acuity (IAGP)

Retinal atrophy (IAGP)

Retinal degeneration (IAGP)

Retinal dystrophy (IAGP)

Retinal pigment epithelial atrophy (IAGP)

Rod-cone dystrophy (IAGP)

Sensorineural hearing impairment (IAGP)

Visual impairment (IAGP)

Young adult onset (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
2.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
3.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
5.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
6.	The spliceosome: design principles of a dynamic RNP machine.	Wahl MC, etal., Cell. 2009 Feb 20;136(4):701-18. doi: 10.1016/j.cell.2009.02.009.

Additional References at PubMed

PMID:8125298	PMID:10561546	PMID:10788320	PMID:10848612	PMID:11780052	PMID:11991638	PMID:12039962	PMID:12226669	PMID:12477932	PMID:12620389	PMID:12943705	PMID:14702039
PMID:15146077	PMID:15161931	PMID:15257298	PMID:15342556	PMID:15489334	PMID:15840814	PMID:16230076	PMID:16341228	PMID:16414017	PMID:16723661	PMID:17314511	PMID:17332742
PMID:17353931	PMID:17643375	PMID:18278469	PMID:18854154	PMID:19615732	PMID:19946888	PMID:20118938	PMID:20237496	PMID:20301590	PMID:20360068	PMID:20467437	PMID:20508642
PMID:20696395	PMID:20797886	PMID:21150319	PMID:21549338	PMID:21873635	PMID:22174317	PMID:22365833	PMID:22586326	PMID:22658674	PMID:22678362	PMID:22751105	PMID:22939629
PMID:23022380	PMID:23284306	PMID:23403292	PMID:23535732	PMID:23602568	PMID:23752268	PMID:24244333	PMID:24332808	PMID:24457600	PMID:24711643	PMID:24778252	PMID:24788092
PMID:25315684	PMID:25921289	PMID:25948554	PMID:26170170	PMID:26186194	PMID:26344197	PMID:26471122	PMID:26496610	PMID:26831064	PMID:27173435	PMID:27248496	PMID:27320910
PMID:27342126	PMID:27684187	PMID:27926873	PMID:28027390	PMID:28302793	PMID:28514442	PMID:28515276	PMID:28561026	PMID:28700943	PMID:28712289	PMID:28781166	PMID:28878014
PMID:28973437	PMID:28977470	PMID:28977666	PMID:29117863	PMID:29128334	PMID:29298432	PMID:29331416	PMID:29395067	PMID:29467282	PMID:29478914	PMID:29507755	PMID:29511296
PMID:29669786	PMID:29773831	PMID:29802200	PMID:29844126	PMID:29845934	PMID:29884807	PMID:29955894	PMID:30404004	PMID:30463901	PMID:30542119	PMID:30804502	PMID:30833792
PMID:30884312	PMID:30890647	PMID:30948266	PMID:30975767	PMID:31010829	PMID:31048545	PMID:31076518	PMID:31091453	PMID:31180492	PMID:31239290	PMID:31324722	PMID:31343991
PMID:31586073	PMID:31594818	PMID:31839598	PMID:31980649	PMID:32129710	PMID:32203420	PMID:32235678	PMID:32239614	PMID:32416067	PMID:32687490	PMID:32707033	PMID:32745318
PMID:32780723	PMID:32786267	PMID:32807901	PMID:32971831	PMID:33022573	PMID:33239621	PMID:33298525	PMID:33306668	PMID:33390843	PMID:33644029	PMID:33658012	PMID:33729478
PMID:33742100	PMID:33957083	PMID:33961781	PMID:34079125	PMID:34091597	PMID:34133714	PMID:34189442	PMID:34244565	PMID:34316702	PMID:34349018	PMID:34373451	PMID:34709727
PMID:34728620	PMID:34831298	PMID:35013218	PMID:35182466	PMID:35235311	PMID:35241646	PMID:35253629	PMID:35256949	PMID:35271311	PMID:35439318	PMID:35446349	PMID:35509820
PMID:35563538	PMID:35575683	PMID:35627203	PMID:35709258	PMID:35776542	PMID:35785414	PMID:35819319	PMID:35833506	PMID:35850772	PMID:35915203	PMID:35944360	PMID:36057605
PMID:36215168	PMID:36244648	PMID:36373674	PMID:36424410	PMID:36517590	PMID:36526897	PMID:36537216	PMID:36574265	PMID:36634849	PMID:36774506	PMID:36880596	PMID:37071664
PMID:37071682	PMID:37105989	PMID:37303939	PMID:37314216	PMID:37317656	PMID:37448957	PMID:37667382	PMID:37689310	PMID:37723588	PMID:37827155	PMID:38113892	PMID:38139438
PMID:38334954	PMID:38697112	PMID:39147351	PMID:39251607	PMID:39358380	PMID:39501047	PMID:39522233

Genomics

Comparative Map Data

PRPF6
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	20	63,981,132 - 64,033,100 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	20	63,981,132 - 64,033,100 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	20	62,612,485 - 62,664,453 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	20	62,082,875 - 62,134,897 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	20	62,082,900 - 62,134,895	NCBI
Celera	20	59,299,064 - 59,350,558 (+)	NCBI		Celera
Cytogenetic Map	20	q13.33	NCBI
HuRef	20	59,347,184 - 59,398,551 (+)	NCBI		HuRef
CHM1_1	20	62,513,489 - 62,564,783 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	20	65,800,894 - 65,853,046 (+)	NCBI		T2T-CHM13v2.0

Prpf6
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	2	181,243,112 - 181,297,454 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	2	181,233,661 - 181,297,453 (+)	Ensembl		GRCm39 Ensembl
GRCm38	2	181,601,319 - 181,655,661 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	2	181,591,868 - 181,655,660 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	2	181,336,024 - 181,390,366 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	2	181,530,799 - 181,585,067 (+)	NCBI		MGSCv36	mm8
Celera	2	185,682,918 - 185,737,812 (+)	NCBI		Celera
Cytogenetic Map	2	H4	NCBI
cM Map	2	103.67	NCBI

Prpf6
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	3	189,084,465 - 189,148,705 (+)	NCBI		GRCr8
mRatBN7.2	3	168,706,952 - 168,771,191 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	3	168,704,299 - 168,774,991 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	3	173,086,155 - 173,150,690 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	3	182,045,248 - 182,109,782 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	3	178,707,876 - 178,772,145 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	3	177,098,137 - 177,162,937 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	3	177,098,073 - 177,162,916 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	3	180,807,600 - 180,871,661 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	3	170,740,406 - 170,804,674 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	3	170,646,458 - 170,710,709 (+)	NCBI
Celera	3	163,816,537 - 163,880,658 (-)	NCBI		Celera
Cytogenetic Map	3	q43	NCBI

PRPF6
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	21	69,800,307 - 69,850,708 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	20	69,792,317 - 69,842,719 (+)	NCBI		NHGRI_mPanPan1
PanPan1.1	20	61,899,076 - 61,948,088 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	20	61,899,076 - 61,948,088 (+)	Ensembl	panpan1.1		panPan2

PRPF6
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	24	47,439,210 - 47,483,531 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	24	47,433,130 - 47,483,522 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	24	46,572,911 - 46,617,337 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	24	48,578,493 - 48,622,460 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	24	48,581,925 - 48,622,458 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	24	47,422,699 - 47,467,056 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	24	47,547,594 - 47,591,550 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	24	48,286,014 - 48,330,440 (+)	NCBI		UU_Cfam_GSD_1.0

Prpf6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024408640	195,721,774 - 195,767,285 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936514	11,175,526 - 11,220,241 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936514	11,175,410 - 11,220,928 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PRPF6
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	17	62,815,085 - 62,858,382 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	17	62,815,509 - 62,857,795 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

PRPF6
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	2	211,482 - 259,590 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	2	211,604 - 259,447 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666050	47,645,668 - 47,789,609 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Prpf6
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624741	29,601,047 - 29,664,054 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624741	29,601,050 - 29,664,054 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in PRPF6
620 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_012469.4(PRPF6):c.550G>C (p.Asp184His)	single nucleotide variant	Retinitis pigmentosa [RCV000132667]	Chr20:63995027 [GRCh38] Chr20:62626380 [GRCh37] Chr20:20q13.33	likely pathogenic
NM_012469.4(PRPF6):c.2185C>T (p.Arg729Trp)	single nucleotide variant	Retinitis pigmentosa 60 [RCV000024084]\|not provided [RCV001852563]	Chr20:64027138 [GRCh38] Chr20:62658491 [GRCh37] Chr20:20q13.33	pathogenic\|uncertain significance
NM_012469.4(PRPF6):c.2674-3C>G	single nucleotide variant	not provided [RCV001246904]	Chr20:64032838 [GRCh38] Chr20:62664191 [GRCh37] Chr20:20q13.33	uncertain significance
GRCh38/hg38 20q13.33(chr20:63199020-64277321)x3	copy number gain	Global developmental delay [RCV000051131]\|See cases [RCV000051131]	Chr20:63199020..64277321 [GRCh38] Chr20:61830372..62908674 [GRCh37] Chr20:20q13.33	pathogenic
GRCh38/hg38 20q13.33(chr20:63827808-64100279)x3	copy number gain	See cases [RCV000050998]	Chr20:63827808..64100279 [GRCh38] Chr20:62459161..62731632 [GRCh37] Chr20:61929605..62202076 [NCBI36] Chr20:20q13.33	uncertain significance
GRCh38/hg38 20q13.33(chr20:62545370-64241486)x1	copy number loss	See cases [RCV000052769]	Chr20:62545370..64241486 [GRCh38] Chr20:61142577..62872839 [GRCh37] Chr20:60553022..62343283 [NCBI36] Chr20:20q13.33	pathogenic
GRCh38/hg38 20q13.33(chr20:63441478-64277321)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052772]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052772]\|See cases [RCV000052772]	Chr20:63441478..64277321 [GRCh38] Chr20:62072831..62908674 [GRCh37] Chr20:61543275..62379118 [NCBI36] Chr20:20q13.33	pathogenic
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	copy number gain	See cases [RCV000053035]	Chr20:44787704..64277321 [GRCh38] Chr20:43416345..62908674 [GRCh37] Chr20:42849759..62379118 [NCBI36] Chr20:20q13.12-13.33	pathogenic
GRCh38/hg38 20q13.33(chr20:63199020-64277321)x3	copy number gain	See cases [RCV000051131]	Chr20:63199020..64277321 [GRCh38] Chr20:61830372..62908674 [GRCh37] Chr20:61300817..62379118 [NCBI36] Chr20:20q13.33	pathogenic
NC_000020.10:g.(?_60831241)_(62664346_?)dup	duplication	Developmental and epileptic encephalopathy, 33 [RCV001295457]\|Early infantile epileptic encephalopathy with suppression bursts [RCV001316934]	Chr20:60831241..62664346 [GRCh37] Chr20:20q13.33	uncertain significance
GRCh38/hg38 20q13.33(chr20:62561794-64277321)x1	copy number loss	See cases [RCV000133842]	Chr20:62561794..64277321 [GRCh38] Chr20:61211869..62908674 [GRCh37] Chr20:60569446..62379118 [NCBI36] Chr20:20q13.33	pathogenic
NM_012469.4(PRPF6):c.1368G>A (p.Ala456=)	single nucleotide variant	not provided [RCV000174123]	Chr20:64011347 [GRCh38] Chr20:62642700 [GRCh37] Chr20:20q13.33	conflicting interpretations of pathogenicity\|uncertain significance
GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	copy number gain	See cases [RCV000135805]	Chr20:59041966..64277321 [GRCh38] Chr20:57617021..62908674 [GRCh37] Chr20:57050416..62379118 [NCBI36] Chr20:20q13.32-13.33	pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	copy number gain	See cases [RCV000135859]	Chr20:99557..64277321 [GRCh38] Chr20:80198..62908674 [GRCh37] Chr20:28198..62379118 [NCBI36] Chr20:20p13-q13.33	pathogenic
GRCh38/hg38 20q13.33(chr20:63199020-64277321)x1	copy number loss	See cases [RCV000135514]	Chr20:63199020..64277321 [GRCh38] Chr20:61830372..62908674 [GRCh37] Chr20:61300817..62379118 [NCBI36] Chr20:20q13.33	likely pathogenic
GRCh38/hg38 20q13.33(chr20:64023324-64261777)x1	copy number loss	See cases [RCV000136499]	Chr20:64023324..64261777 [GRCh38] Chr20:62654677..62893130 [GRCh37] Chr20:62125121..62363574 [NCBI36] Chr20:20q13.33	pathogenic
GRCh38/hg38 20q13.33(chr20:63153963-64277321)x1	copy number loss	See cases [RCV000137385]	Chr20:63153963..64277321 [GRCh38] Chr20:61785315..62908674 [GRCh37] Chr20:61255760..62379118 [NCBI36] Chr20:20q13.33	pathogenic
GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	copy number gain	See cases [RCV000138035]	Chr20:56198032..64277321 [GRCh38] Chr20:54773088..62908674 [GRCh37] Chr20:54206495..62379118 [NCBI36] Chr20:20q13.2-13.33	pathogenic
GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3	copy number gain	See cases [RCV000139100]	Chr20:61326549..64277326 [GRCh38] Chr20:59901605..62908679 [GRCh37] Chr20:59335000..62379123 [NCBI36] Chr20:20q13.33	pathogenic
GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	copy number gain	See cases [RCV000141347]	Chr20:57229415..64273089 [GRCh38] Chr20:55804471..62904442 [GRCh37] Chr20:55237878..62374886 [NCBI36] Chr20:20q13.31-13.33	pathogenic
GRCh38/hg38 20q13.33(chr20:62582073-64284202)x1	copy number loss	See cases [RCV000141744]	Chr20:62582073..64284202 [GRCh38] Chr20:61179280..62915555 [GRCh37] Chr20:60589725..62385999 [NCBI36] Chr20:20q13.33	pathogenic
GRCh38/hg38 20q13.33(chr20:63385523-64270639)x3	copy number gain	See cases [RCV000141762]	Chr20:63385523..64270639 [GRCh38] Chr20:62016875..62901992 [GRCh37] Chr20:61487319..62372436 [NCBI36] Chr20:20q13.33	uncertain significance
GRCh38/hg38 20q13.33(chr20:62663307-64284202)x1	copy number loss	See cases [RCV000141676]	Chr20:62663307..64284202 [GRCh38] Chr20:61294659..62915555 [GRCh37] Chr20:60765104..62385999 [NCBI36] Chr20:20q13.33	pathogenic
GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	copy number gain	See cases [RCV000143584]	Chr20:53236165..64284202 [GRCh38] Chr20:51852704..62915555 [GRCh37] Chr20:51286111..62385999 [NCBI36] Chr20:20q13.2-13.33	likely pathogenic
NM_012469.4(PRPF6):c.171G>C (p.Gly57=)	single nucleotide variant	not provided [RCV000175851]	Chr20:63983146 [GRCh38] Chr20:62614499 [GRCh37] Chr20:20q13.33	conflicting interpretations of pathogenicity\|uncertain significance
NM_012469.4(PRPF6):c.891C>T (p.Leu297=)	single nucleotide variant	Retinitis pigmentosa [RCV001139621]\|not provided [RCV000180310]	Chr20:63999627 [GRCh38] Chr20:62630980 [GRCh37] Chr20:20q13.33	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_012469.4(PRPF6):c.1769+3A>G	single nucleotide variant	not provided [RCV001765903]	Chr20:64022881 [GRCh38] Chr20:62654234 [GRCh37] Chr20:20q13.33	likely benign\|uncertain significance
GRCh37/hg19 20q13.33(chr20:61827144-62907526)x1	copy number loss	See cases [RCV000240214]	Chr20:61827144..62907526 [GRCh37] Chr20:20q13.33	pathogenic
NM_012469.4(PRPF6):c.2779G>A (p.Gly927Arg)	single nucleotide variant	Retinitis pigmentosa [RCV000300514]\|not provided [RCV001517956]	Chr20:64032946 [GRCh38] Chr20:62664299 [GRCh37] Chr20:20q13.33	benign\|uncertain significance
NM_012469.4(PRPF6):c.1524+10A>G	single nucleotide variant	Retinitis pigmentosa [RCV000301932]\|not provided [RCV000973799]	Chr20:64011513 [GRCh38] Chr20:62642866 [GRCh37] Chr20:20q13.33	benign\|likely benign
NM_012469.4(PRPF6):c.616-7C>T	single nucleotide variant	Retinitis pigmentosa [RCV000291159]\|not provided [RCV002057752]	Chr20:63995320 [GRCh38] Chr20:62626673 [GRCh37] Chr20:20q13.33	likely benign\|uncertain significance
NM_012469.4(PRPF6):c.1239G>A (p.Leu413=)	single nucleotide variant	Retinitis pigmentosa [RCV000298212]\|not provided [RCV001512500]	Chr20:64010252 [GRCh38] Chr20:62641605 [GRCh37] Chr20:20q13.33	benign\|likely benign
NM_012469.4(PRPF6):c.-54C>T	single nucleotide variant	Retinitis pigmentosa [RCV000320146]	Chr20:63981192 [GRCh38] Chr20:62612545 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2328C>T (p.Asn776=)	single nucleotide variant	PRPF6-related disorder [RCV003950175]\|Retinitis pigmentosa [RCV000270419]\|not provided [RCV000894345]	Chr20:64027725 [GRCh38] Chr20:62659078 [GRCh37] Chr20:20q13.33	benign\|likely benign\|uncertain significance
NM_012469.3(PRPF6):c.-147A>C	single nucleotide variant	Retinitis Pigmentosa, Dominant [RCV000309534]	Chr20:63981099 [GRCh38] Chr20:62612452 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.-78G>A	single nucleotide variant	Retinitis pigmentosa [RCV000355163]	Chr20:63981168 [GRCh38] Chr20:62612521 [GRCh37] Chr20:20q13.33	likely benign\|uncertain significance
NM_012469.4(PRPF6):c.1449G>A (p.Val483=)	single nucleotide variant	Retinitis pigmentosa [RCV000355592]\|not provided [RCV001523361]	Chr20:64011428 [GRCh38] Chr20:62642781 [GRCh37] Chr20:20q13.33	benign\|likely benign
NM_012469.4(PRPF6):c.1566C>T (p.Cys522=)	single nucleotide variant	Retinitis pigmentosa [RCV000359036]\|not provided [RCV002057754]	Chr20:64016764 [GRCh38] Chr20:62648117 [GRCh37] Chr20:20q13.33	likely benign\|uncertain significance
NM_012469.4(PRPF6):c.1797G>A (p.Arg599=)	single nucleotide variant	not provided [RCV000309139]	Chr20:64024582 [GRCh38] Chr20:62655935 [GRCh37] Chr20:20q13.33	conflicting interpretations of pathogenicity\|uncertain significance
NM_012469.4(PRPF6):c.-83A>G	single nucleotide variant	Retinitis pigmentosa [RCV000370179]	Chr20:63981163 [GRCh38] Chr20:62612516 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1164A>G (p.Ala388=)	single nucleotide variant	PRPF6-related disorder [RCV003932358]\|Retinitis pigmentosa [RCV000313487]\|not provided [RCV001513252]	Chr20:64001217 [GRCh38] Chr20:62632570 [GRCh37] Chr20:20q13.33	benign\|uncertain significance
NM_012469.4(PRPF6):c.-79C>T	single nucleotide variant	Retinitis pigmentosa [RCV000316699]\|not provided [RCV004717440]	Chr20:63981167 [GRCh38] Chr20:62612520 [GRCh37] Chr20:20q13.33	benign\|likely benign
NM_012469.3(PRPF6):c.-119G>A	single nucleotide variant	Retinitis Pigmentosa, Dominant [RCV000366597]\|not provided [RCV004703836]	Chr20:63981127 [GRCh38] Chr20:62612480 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1209G>A (p.Ser403=)	single nucleotide variant	Retinitis pigmentosa [RCV000396618]\|not provided [RCV001521468]	Chr20:64010222 [GRCh38] Chr20:62641575 [GRCh37] Chr20:20q13.33	benign\|likely benign
NM_012469.4(PRPF6):c.-82C>T	single nucleotide variant	Retinitis pigmentosa [RCV000277948]	Chr20:63981164 [GRCh38] Chr20:62612517 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2688G>T (p.Glu896Asp)	single nucleotide variant	Retinitis pigmentosa [RCV000278328]\|not provided [RCV001210643]\|not specified [RCV004021842]	Chr20:64032855 [GRCh38] Chr20:62664208 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.772-7C>T	single nucleotide variant	not provided [RCV000315227]	Chr20:63999038 [GRCh38] Chr20:62630391 [GRCh37] Chr20:20q13.33	conflicting interpretations of pathogenicity\|uncertain significance
NM_012469.4(PRPF6):c.57G>A (p.Pro19=)	single nucleotide variant	Retinitis pigmentosa [RCV000323532]\|not provided [RCV004597784]	Chr20:63981302 [GRCh38] Chr20:62612655 [GRCh37] Chr20:20q13.33	likely benign\|uncertain significance
NM_012469.4(PRPF6):c.-25C>T	single nucleotide variant	Retinitis pigmentosa [RCV000377092]\|not provided [RCV004717441]	Chr20:63981221 [GRCh38] Chr20:62612574 [GRCh37] Chr20:20q13.33	benign\|likely benign
NM_012469.4(PRPF6):c.1492G>A (p.Gly498Ser)	single nucleotide variant	Retinitis pigmentosa [RCV000263046]\|not provided [RCV001861171]	Chr20:64011471 [GRCh38] Chr20:62642824 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.42C>T (p.Pro14=)	single nucleotide variant	Retinal dystrophy [RCV003888814]\|Retinitis pigmentosa [RCV000284980]\|not provided [RCV000904209]	Chr20:63981287 [GRCh38] Chr20:62612640 [GRCh37] Chr20:20q13.33	benign\|likely benign
NM_012469.4(PRPF6):c.2340-11T>C	single nucleotide variant	Retinitis pigmentosa [RCV000328970]\|not provided [RCV001512857]	Chr20:64028467 [GRCh38] Chr20:62659820 [GRCh37] Chr20:20q13.33	benign\|likely benign
NM_012469.4(PRPF6):c.1944C>T (p.Ala648=)	single nucleotide variant	Retinal dystrophy [RCV003888815]\|Retinitis pigmentosa [RCV000381203]\|not provided [RCV000914708]	Chr20:64025974 [GRCh38] Chr20:62657327 [GRCh37] Chr20:20q13.33	benign\|likely benign\|uncertain significance
NM_012469.4(PRPF6):c.71+6G>A	single nucleotide variant	Retinitis pigmentosa [RCV000380492]\|not provided [RCV001518197]	Chr20:63981322 [GRCh38] Chr20:62612675 [GRCh37] Chr20:20q13.33	benign\|likely benign
NM_012469.4(PRPF6):c.616-10T>G	single nucleotide variant	Retinitis pigmentosa [RCV000383164]\|not provided [RCV002057751]	Chr20:63995317 [GRCh38] Chr20:62626670 [GRCh37] Chr20:20q13.33	likely benign\|uncertain significance
NM_012469.4(PRPF6):c.120A>G (p.Ala40=)	single nucleotide variant	Retinitis pigmentosa 60 [RCV002502310]\|Retinitis pigmentosa [RCV000288447]\|not provided [RCV000961721]	Chr20:63983095 [GRCh38] Chr20:62614448 [GRCh37] Chr20:20q13.33	benign\|likely benign
NM_012469.4(PRPF6):c.2743G>A (p.Val915Met)	single nucleotide variant	Retinitis pigmentosa [RCV000335823]\|not provided [RCV001034157]	Chr20:64032910 [GRCh38] Chr20:62664263 [GRCh37] Chr20:20q13.33	benign\|likely benign\|uncertain significance
NM_012469.4(PRPF6):c.2546+15C>T	single nucleotide variant	Retinitis pigmentosa [RCV000389178]\|not provided [RCV001518130]	Chr20:64029506 [GRCh38] Chr20:62660859 [GRCh37] Chr20:20q13.33	benign\|likely benign
NM_012469.4(PRPF6):c.2431+9del	deletion	not provided [RCV000885840]\|not specified [RCV000321587]	Chr20:64028574 [GRCh38] Chr20:62659931 [GRCh37] Chr20:20q13.33	benign\|likely benign
NM_012469.4(PRPF6):c.2460C>T (p.Leu820=)	single nucleotide variant	Retinitis pigmentosa [RCV000293756]\|not provided [RCV000958108]	Chr20:64029405 [GRCh38] Chr20:62660758 [GRCh37] Chr20:20q13.33	benign\|likely benign
NM_012469.4(PRPF6):c.*7G>A	single nucleotide variant	Retinitis pigmentosa [RCV000339127]\|not provided [RCV004717442]	Chr20:64033000 [GRCh38] Chr20:62664353 [GRCh37] Chr20:20q13.33	benign\|likely benign
NM_012469.4(PRPF6):c.*19C>T	single nucleotide variant	Retinitis pigmentosa [RCV000397024]\|not provided [RCV004717443]	Chr20:64033012 [GRCh38] Chr20:62664365 [GRCh37] Chr20:20q13.33	benign\|likely benign
NM_012469.4(PRPF6):c.2431+15C>T	single nucleotide variant	Retinitis pigmentosa [RCV000385792]\|not provided [RCV001518778]	Chr20:64028584 [GRCh38] Chr20:62659937 [GRCh37] Chr20:20q13.33	benign\|likely benign
NM_012469.4(PRPF6):c.-75G>A	single nucleotide variant	Retinitis pigmentosa [RCV000262734]	Chr20:63981171 [GRCh38] Chr20:62612524 [GRCh37] Chr20:20q13.33	benign\|likely benign
NM_012469.4(PRPF6):c.193G>A (p.Ala65Thr)	single nucleotide variant	Retinal dystrophy [RCV004816588]\|Retinitis pigmentosa [RCV000345725]\|not provided [RCV000415738]	Chr20:63983168 [GRCh38] Chr20:62614521 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2756T>C (p.Ile919Thr)	single nucleotide variant	Retinitis pigmentosa [RCV000403184]\|not provided [RCV001345394]\|not specified [RCV004659011]	Chr20:64032923 [GRCh38] Chr20:62664276 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1647+10C>A	single nucleotide variant	Retinitis pigmentosa [RCV000266741]\|not provided [RCV001521469]	Chr20:64016855 [GRCh38] Chr20:62648208 [GRCh37] Chr20:20q13.33	benign\|likely benign
NM_012469.4(PRPF6):c.2496T>C (p.Asp832=)	single nucleotide variant	Retinal dystrophy [RCV003888816]\|Retinitis pigmentosa [RCV000351050]\|not provided [RCV002057755]	Chr20:64029441 [GRCh38] Chr20:62660794 [GRCh37] Chr20:20q13.33	benign\|likely benign\|uncertain significance
NM_012469.4(PRPF6):c.1186+13C>T	single nucleotide variant	Retinitis pigmentosa [RCV000351949]\|not provided [RCV002057753]	Chr20:64001252 [GRCh38] Chr20:62632605 [GRCh37] Chr20:20q13.33	benign\|likely benign\|uncertain significance
GRCh37/hg19 20q13.33(chr20:61337529-62904501)x1	copy number loss	not provided [RCV000488148]	Chr20:61337529..62904501 [GRCh37] Chr20:20q13.33	likely pathogenic
NM_012469.4(PRPF6):c.1100G>A (p.Arg367His)	single nucleotide variant	Retinitis pigmentosa [RCV000348482]	Chr20:64001153 [GRCh38] Chr20:62632506 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1103A>G (p.His368Arg)	single nucleotide variant	Retinitis pigmentosa [RCV000405732]\|not specified [RCV004649133]	Chr20:64001156 [GRCh38] Chr20:62632509 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1770-11_1770-10del	deletion	Retinitis Pigmentosa, Dominant [RCV000324249]	Chr20:64024544..64024545 [GRCh38] Chr20:62655897..62655898 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.-89C>T	single nucleotide variant	Retinitis pigmentosa [RCV000394642]	Chr20:63981157 [GRCh38] Chr20:62612510 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.-86C>T	single nucleotide variant	Retinitis pigmentosa [RCV000313067]	Chr20:63981160 [GRCh38] Chr20:62612513 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1294A>T (p.Thr432Ser)	single nucleotide variant	not provided [RCV000732157]	Chr20:64010307 [GRCh38] Chr20:62641660 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2546+10G>A	single nucleotide variant	not provided [RCV000732164]	Chr20:64029501 [GRCh38] Chr20:62660854 [GRCh37] Chr20:20q13.33	uncertain significance
GRCh37/hg19 20q13.33(chr20:61827144-62907467)x1	copy number loss	See cases [RCV000446096]	Chr20:61827144..62907467 [GRCh37] Chr20:20q13.33	pathogenic
GRCh37/hg19 20q13.33(chr20:62662139-62714797)x1	copy number loss	See cases [RCV000447557]	Chr20:62662139..62714797 [GRCh37] Chr20:20q13.33	likely pathogenic
GRCh37/hg19 20q13.33(chr20:60473339-62915555)x3	copy number gain	See cases [RCV000446009]	Chr20:60473339..62915555 [GRCh37] Chr20:20q13.33	uncertain significance
GRCh37/hg19 20q13.33(chr20:61884113-62915555)x1	copy number loss	See cases [RCV000510189]	Chr20:61884113..62915555 [GRCh37] Chr20:20q13.33	pathogenic
GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3	copy number gain	See cases [RCV000511980]	Chr20:51542616..62915555 [GRCh37] Chr20:20q13.2-13.33	likely pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	copy number gain	See cases [RCV000510832]	Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33	pathogenic
NM_012469.4(PRPF6):c.2329C>G (p.Pro777Ala)	single nucleotide variant	not specified [RCV004308171]	Chr20:64027726 [GRCh38] Chr20:62659079 [GRCh37] Chr20:20q13.33	uncertain significance
GRCh37/hg19 20q13.33(chr20:62603908-62857300)x1	copy number loss	See cases [RCV000512532]	Chr20:62603908..62857300 [GRCh37] Chr20:20q13.33	uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	copy number gain	See cases [RCV000512450]	Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33	pathogenic
GRCh37/hg19 20q13.33(chr20:62090403-62915555)x1	copy number loss	not provided [RCV000684123]	Chr20:62090403..62915555 [GRCh37] Chr20:20q13.33	pathogenic
GRCh37/hg19 20q13.33(chr20:62002369-62915555)x1	copy number loss	not provided [RCV000684126]	Chr20:62002369..62915555 [GRCh37] Chr20:20q13.33	pathogenic
NM_012469.4(PRPF6):c.2822_2824del (p.Phe941del)	deletion	Retinitis pigmentosa [RCV001003133]	Chr20:64032987..64032989 [GRCh38] Chr20:62664340..62664342 [GRCh37] Chr20:20q13.33	pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3	copy number gain	not provided [RCV000741058]	Chr20:63244..62948788 [GRCh37] Chr20:20p13-q13.33	pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3	copy number gain	not provided [RCV000741059]	Chr20:63244..62961294 [GRCh37] Chr20:20p13-q13.33	pathogenic
GRCh37/hg19 20q13.33(chr20:60053234-62961294)x3	copy number gain	not provided [RCV000741328]	Chr20:60053234..62961294 [GRCh37] Chr20:20q13.33	pathogenic
GRCh37/hg19 20q13.33(chr20:60063645-62961294)x3	copy number gain	not provided [RCV000741329]	Chr20:60063645..62961294 [GRCh37] Chr20:20q13.33	pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3	copy number gain	not provided [RCV000741057]	Chr20:63244..62912463 [GRCh37] Chr20:20p13-q13.33	pathogenic
NM_012469.4(PRPF6):c.801C>T (p.Val267=)	single nucleotide variant	PRPF6-related disorder [RCV004757310]\|Retinitis pigmentosa [RCV001139619]\|not provided [RCV000898275]	Chr20:63999074 [GRCh38] Chr20:62630427 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1302G>A (p.Val434=)	single nucleotide variant	not provided [RCV000965486]	Chr20:64010315 [GRCh38] Chr20:62641668 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2205+5G>C	single nucleotide variant	PRPF6-related disorder [RCV003903059]\|not provided [RCV000925906]	Chr20:64027163 [GRCh38] Chr20:62658516 [GRCh37] Chr20:20q13.33	benign\|likely benign
NM_012469.4(PRPF6):c.2674-10G>T	single nucleotide variant	not provided [RCV000948075]	Chr20:64032831 [GRCh38] Chr20:62664184 [GRCh37] Chr20:20q13.33	benign
NM_012469.4(PRPF6):c.2616G>A (p.Ser872=)	single nucleotide variant	PRPF6-related disorder [RCV003967972]\|not provided [RCV000880177]	Chr20:64031987 [GRCh38] Chr20:62663340 [GRCh37] Chr20:20q13.33	benign\|likely benign
NM_012469.4(PRPF6):c.1648-9C>G	single nucleotide variant	not provided [RCV000948074]	Chr20:64022748 [GRCh38] Chr20:62654101 [GRCh37] Chr20:20q13.33	benign
NM_012469.4(PRPF6):c.1039C>T (p.Leu347=)	single nucleotide variant	PRPF6-related disorder [RCV003923220]\|not provided [RCV000915354]	Chr20:64001092 [GRCh38] Chr20:62632445 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2484C>G (p.Thr828=)	single nucleotide variant	PRPF6-related disorder [RCV003968288]\|not provided [RCV000904008]	Chr20:64029429 [GRCh38] Chr20:62660782 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.541C>G (p.Pro181Ala)	single nucleotide variant	Retinal dystrophy [RCV001075455]	Chr20:63995018 [GRCh38] Chr20:62626371 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.578C>T (p.Thr193Ile)	single nucleotide variant	not provided [RCV001068383]	Chr20:63995055 [GRCh38] Chr20:62626408 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2313_2321dup (p.772_774KNP[3])	duplication	Retinal dystrophy [RCV001073326]	Chr20:64027709..64027710 [GRCh38] Chr20:62659062..62659063 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.581G>T (p.Gly194Val)	single nucleotide variant	not provided [RCV001043618]	Chr20:63995058 [GRCh38] Chr20:62626411 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1008G>A (p.Thr336=)	single nucleotide variant	not provided [RCV000896442]	Chr20:63999744 [GRCh38] Chr20:62631097 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2421C>T (p.Cys807=)	single nucleotide variant	not provided [RCV000980021]	Chr20:64028559 [GRCh38] Chr20:62659912 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1974C>T (p.Tyr658=)	single nucleotide variant	PRPF6-related disorder [RCV003942835]\|not provided [RCV000920137]	Chr20:64026004 [GRCh38] Chr20:62657357 [GRCh37] Chr20:20q13.33	likely benign
GRCh37/hg19 20q13.33(chr20:61152321-62915555)x1	copy number loss	not provided [RCV001007103]	Chr20:61152321..62915555 [GRCh37] Chr20:20q13.33	pathogenic
GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)x3	copy number gain	not provided [RCV001007098]	Chr20:56788101..62762405 [GRCh37] Chr20:20q13.32-13.33	pathogenic
NM_012469.4(PRPF6):c.24C>T (p.Phe8=)	single nucleotide variant	not provided [RCV000965485]	Chr20:63981269 [GRCh38] Chr20:62612622 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2356_2371del (p.Leu786fs)	deletion	not provided [RCV001059321]	Chr20:64028486..64028501 [GRCh38] Chr20:62659839..62659854 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.279C>T (p.Pro93=)	single nucleotide variant	Retinitis pigmentosa [RCV001137384]	Chr20:63984945 [GRCh38] Chr20:62616298 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.282C>T (p.Tyr94=)	single nucleotide variant	Retinitis pigmentosa [RCV001137385]\|not provided [RCV002070606]	Chr20:63984948 [GRCh38] Chr20:62616301 [GRCh37] Chr20:20q13.33	likely benign\|uncertain significance
NM_012469.4(PRPF6):c.2607G>A (p.Lys869=)	single nucleotide variant	Retinitis pigmentosa [RCV001137501]\|not provided [RCV001520924]	Chr20:64031978 [GRCh38] Chr20:62663331 [GRCh37] Chr20:20q13.33	benign\|uncertain significance
NM_012469.4(PRPF6):c.1690G>A (p.Ala564Thr)	single nucleotide variant	not provided [RCV001053815]	Chr20:64022799 [GRCh38] Chr20:62654152 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2463G>T (p.Glu821Asp)	single nucleotide variant	not provided [RCV001231561]	Chr20:64029408 [GRCh38] Chr20:62660761 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.527A>G (p.Tyr176Cys)	single nucleotide variant	not provided [RCV001240208]\|not specified [RCV004034642]	Chr20:63995004 [GRCh38] Chr20:62626357 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1292C>T (p.Pro431Leu)	single nucleotide variant	not provided [RCV001227139]	Chr20:64010305 [GRCh38] Chr20:62641658 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2638_2639delinsGC (p.Phe880Ala)	indel	not provided [RCV001228495]	Chr20:64032009..64032010 [GRCh38] Chr20:62663362..62663363 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2755A>G (p.Ile919Val)	single nucleotide variant	Retinal dystrophy [RCV004813838]\|Retinitis pigmentosa 60 [RCV001196069]\|not provided [RCV001308855]	Chr20:64032922 [GRCh38] Chr20:62664275 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1582G>A (p.Ala528Thr)	single nucleotide variant	Retinitis pigmentosa 60 [RCV001196256]	Chr20:64016780 [GRCh38] Chr20:62648133 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2365C>T (p.Arg789Cys)	single nucleotide variant	not provided [RCV000997813]	Chr20:64028503 [GRCh38] Chr20:62659856 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2228C>T (p.Thr743Ile)	single nucleotide variant	not provided [RCV001246956]\|not specified [RCV004034878]	Chr20:64027625 [GRCh38] Chr20:62658978 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.628C>T (p.Leu210Phe)	single nucleotide variant	not provided [RCV001212624]	Chr20:63995339 [GRCh38] Chr20:62626692 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1305+11C>T	single nucleotide variant	Retinal dystrophy [RCV004813794]\|Retinitis pigmentosa [RCV001140381]\|not provided [RCV002070677]	Chr20:64010329 [GRCh38] Chr20:62641682 [GRCh37] Chr20:20q13.33	likely benign\|uncertain significance
NM_012469.4(PRPF6):c.*27G>A	single nucleotide variant	Retinitis pigmentosa [RCV001140480]	Chr20:64033020 [GRCh38] Chr20:62664373 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.351A>G (p.Lys117=)	single nucleotide variant	Retinitis pigmentosa [RCV001137386]	Chr20:63985017 [GRCh38] Chr20:62616370 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2349C>T (p.Ser783=)	single nucleotide variant	Retinitis pigmentosa [RCV001137499]\|not provided [RCV002070610]	Chr20:64028487 [GRCh38] Chr20:62659840 [GRCh37] Chr20:20q13.33	likely benign\|uncertain significance
NM_012469.4(PRPF6):c.61C>T (p.Leu21=)	single nucleotide variant	Retinitis pigmentosa [RCV001142120]\|not provided [RCV001522808]	Chr20:63981306 [GRCh38] Chr20:62612659 [GRCh37] Chr20:20q13.33	benign\|uncertain significance
NM_012469.4(PRPF6):c.1451A>C (p.Glu484Ala)	single nucleotide variant	Retinitis pigmentosa 60 [RCV001198278]	Chr20:64011430 [GRCh38] Chr20:62642783 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2107C>T (p.Arg703Trp)	single nucleotide variant	Retinitis pigmentosa [RCV001142240]\|not provided [RCV002032351]	Chr20:64027060 [GRCh38] Chr20:62658413 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1679G>A (p.Arg560Gln)	single nucleotide variant	not provided [RCV004776638]	Chr20:64022788 [GRCh38] Chr20:62654141 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.240+1G>A	single nucleotide variant	not provided [RCV003106641]	Chr20:63983216 [GRCh38] Chr20:62614569 [GRCh37] Chr20:20q13.33	uncertain significance
NC_000020.10:g.(?_60831241)_(62680869_?)dup	duplication	Developmental and epileptic encephalopathy, 33 [RCV003107566]\|Early infantile epileptic encephalopathy with suppression bursts [RCV003122564]	Chr20:60831241..62680869 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.807C>T (p.Asp269=)	single nucleotide variant	not provided [RCV000982738]	Chr20:63999080 [GRCh38] Chr20:62630433 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2742C>T (p.Ala914=)	single nucleotide variant	not provided [RCV000925279]	Chr20:64032909 [GRCh38] Chr20:62664262 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.597A>G (p.Ser199=)	single nucleotide variant	not provided [RCV000922960]	Chr20:63995074 [GRCh38] Chr20:62626427 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.780C>T (p.Asp260=)	single nucleotide variant	not provided [RCV000919461]	Chr20:63999053 [GRCh38] Chr20:62630406 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1023+8_1023+21del	deletion	PRPF6-related disorder [RCV003905806]\|not provided [RCV000959630]	Chr20:63999767..63999780 [GRCh38] Chr20:62631120..62631133 [GRCh37] Chr20:20q13.33	benign
NM_012469.4(PRPF6):c.1602T>C (p.Ile534=)	single nucleotide variant	not provided [RCV000932893]	Chr20:64016800 [GRCh38] Chr20:62648153 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2673+12C>G	single nucleotide variant	Retinitis pigmentosa [RCV001139713]\|not provided [RCV001422330]	Chr20:64032056 [GRCh38] Chr20:62663409 [GRCh37] Chr20:20q13.33	likely benign\|uncertain significance
NM_012469.4(PRPF6):c.2684A>G (p.Glu895Gly)	single nucleotide variant	not provided [RCV001227984]	Chr20:64032851 [GRCh38] Chr20:62664204 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1196A>G (p.His399Arg)	single nucleotide variant	not provided [RCV001244021]	Chr20:64010209 [GRCh38] Chr20:62641562 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.867-6T>C	single nucleotide variant	Retinitis pigmentosa [RCV001139620]\|not provided [RCV001395542]	Chr20:63999597 [GRCh38] Chr20:62630950 [GRCh37] Chr20:20q13.33	likely benign\|uncertain significance
NM_012469.4(PRPF6):c.2752G>C (p.Asp918His)	single nucleotide variant	not provided [RCV001225543]\|not specified [RCV004032540]	Chr20:64032919 [GRCh38] Chr20:62664272 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1137C>T (p.Ala379=)	single nucleotide variant	Retinitis pigmentosa [RCV001139622]\|not provided [RCV000913987]	Chr20:64001190 [GRCh38] Chr20:62632543 [GRCh37] Chr20:20q13.33	benign\|likely benign
NM_012469.4(PRPF6):c.2593C>T (p.His865Tyr)	single nucleotide variant	Retinitis pigmentosa 60 [RCV000990343]\|not provided [RCV001869363]	Chr20:64031964 [GRCh38] Chr20:62663317 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2077G>T (p.Ala693Ser)	single nucleotide variant	Retinitis pigmentosa [RCV001142239]	Chr20:64027030 [GRCh38] Chr20:62658383 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1769+8G>A	single nucleotide variant	Retinitis pigmentosa [RCV001142238]\|not provided [RCV002070705]	Chr20:64022886 [GRCh38] Chr20:62654239 [GRCh37] Chr20:20q13.33	likely benign\|uncertain significance
NM_012469.4(PRPF6):c.1246C>A (p.Pro416Thr)	single nucleotide variant	Retinitis pigmentosa [RCV001140380]	Chr20:64010259 [GRCh38] Chr20:62641612 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.-53C>T	single nucleotide variant	Retinitis pigmentosa [RCV001142119]	Chr20:63981193 [GRCh38] Chr20:62612546 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2425A>G (p.Asn809Asp)	single nucleotide variant	Retinitis pigmentosa [RCV001137500]\|not provided [RCV001063538]	Chr20:64028563 [GRCh38] Chr20:62659916 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.871A>G (p.Ile291Val)	single nucleotide variant	not provided [RCV001235624]	Chr20:63999607 [GRCh38] Chr20:62630960 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.71+7C>T	single nucleotide variant	not provided [RCV001234802]	Chr20:63981323 [GRCh38] Chr20:62612676 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.514C>T (p.Arg172Trp)	single nucleotide variant	Retinal dystrophy [RCV001074688]\|not provided [RCV001226967]	Chr20:63994991 [GRCh38] Chr20:62626344 [GRCh37] Chr20:20q13.33	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_012469.4(PRPF6):c.438+15C>T	single nucleotide variant	Retinitis pigmentosa [RCV001137387]\|not provided [RCV002070607]	Chr20:63993500 [GRCh38] Chr20:62624853 [GRCh37] Chr20:20q13.33	likely benign\|uncertain significance
NM_012469.4(PRPF6):c.1714A>T (p.Ser572Cys)	single nucleotide variant	not provided [RCV001202086]	Chr20:64022823 [GRCh38] Chr20:62654176 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.439-4C>T	single nucleotide variant	Retinitis pigmentosa [RCV001137388]\|not provided [RCV002556923]	Chr20:63994912 [GRCh38] Chr20:62626265 [GRCh37] Chr20:20q13.33	likely benign\|uncertain significance
NM_012469.4(PRPF6):c.2699G>A (p.Arg900His)	single nucleotide variant	not provided [RCV001044687]	Chr20:64032866 [GRCh38] Chr20:62664219 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.-99C>G	single nucleotide variant	Retinitis pigmentosa [RCV001139517]	Chr20:63981147 [GRCh38] Chr20:62612500 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.*1T>C	single nucleotide variant	Retinal dystrophy [RCV003890288]\|Retinitis pigmentosa [RCV001139714]	Chr20:64032994 [GRCh38] Chr20:62664347 [GRCh37] Chr20:20q13.33	likely pathogenic\|uncertain significance
NM_012469.4(PRPF6):c.1186+13C>G	single nucleotide variant	Retinitis pigmentosa 60 [RCV001196383]	Chr20:64001252 [GRCh38] Chr20:62632605 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.777del (p.Asp260fs)	deletion	not provided [RCV001038834]	Chr20:63999050 [GRCh38] Chr20:62630403 [GRCh37] Chr20:20q13.33	pathogenic\|uncertain significance
NM_012469.4(PRPF6):c.314A>G (p.Tyr105Cys)	single nucleotide variant	not provided [RCV001245880]	Chr20:63984980 [GRCh38] Chr20:62616333 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2740G>A (p.Ala914Thr)	single nucleotide variant	not provided [RCV001231932]	Chr20:64032907 [GRCh38] Chr20:62664260 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1006A>G (p.Thr336Ala)	single nucleotide variant	not provided [RCV001067890]	Chr20:63999742 [GRCh38] Chr20:62631095 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.-107A>G	single nucleotide variant	Retinitis pigmentosa [RCV001139516]	Chr20:63981139 [GRCh38] Chr20:62612492 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.615+11A>G	single nucleotide variant	Retinitis pigmentosa [RCV001137389]\|not provided [RCV001520341]	Chr20:63995103 [GRCh38] Chr20:62626456 [GRCh37] Chr20:20q13.33	benign
NM_012469.4(PRPF6):c.1525-7C>T	single nucleotide variant	Retinitis pigmentosa [RCV001142237]\|not provided [RCV001521575]	Chr20:64016716 [GRCh38] Chr20:62648069 [GRCh37] Chr20:20q13.33	benign\|uncertain significance
NM_012469.4(PRPF6):c.523C>T (p.Arg175Cys)	single nucleotide variant	not provided [RCV001214013]	Chr20:63995000 [GRCh38] Chr20:62626353 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.256G>A (p.Gly86Arg)	single nucleotide variant	not provided [RCV001064321]	Chr20:63984922 [GRCh38] Chr20:62616275 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2028+5G>A	single nucleotide variant	Retinal dystrophy [RCV001075100]\|not provided [RCV001862842]	Chr20:64026063 [GRCh38] Chr20:62657416 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1306-7C>T	single nucleotide variant	Retinitis pigmentosa [RCV001140382]\|not provided [RCV001516457]	Chr20:64011278 [GRCh38] Chr20:62642631 [GRCh37] Chr20:20q13.33	benign\|uncertain significance
NM_012469.4(PRPF6):c.576G>C (p.Gln192His)	single nucleotide variant	Retinitis pigmentosa 60 [RCV001253079]	Chr20:63995053 [GRCh38] Chr20:62626406 [GRCh37] Chr20:20q13.33	uncertain significance
GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	copy number gain	not provided [RCV001537917]	Chr20:51799648..62916626 [GRCh37] Chr20:20q13.2-13.33	pathogenic
GRCh37/hg19 20q13.33(chr20:62576747-62915555)x3	copy number gain	not provided [RCV001258915]	Chr20:62576747..62915555 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2560C>T (p.Gln854Ter)	single nucleotide variant	not provided [RCV001889016]	Chr20:64031931 [GRCh38] Chr20:62663284 [GRCh37] Chr20:20q13.33	uncertain significance
GRCh37/hg19 20q13.33(chr20:61975605-62915555)x1	copy number loss	not provided [RCV001258914]	Chr20:61975605..62915555 [GRCh37] Chr20:20q13.33	pathogenic
NM_012469.4(PRPF6):c.950G>A (p.Arg317His)	single nucleotide variant	not provided [RCV001889406]	Chr20:63999686 [GRCh38] Chr20:62631039 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.503A>G (p.Asn168Ser)	single nucleotide variant	not provided [RCV001294559]	Chr20:63994980 [GRCh38] Chr20:62626333 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.139C>T (p.Arg47Cys)	single nucleotide variant	not provided [RCV001301886]	Chr20:63983114 [GRCh38] Chr20:62614467 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1616G>A (p.Arg539Gln)	single nucleotide variant	not provided [RCV001351592]\|not specified [RCV004036662]	Chr20:64016814 [GRCh38] Chr20:62648167 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.498C>T (p.Ala166=)	single nucleotide variant	not provided [RCV001396930]	Chr20:63994975 [GRCh38] Chr20:62626328 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.439-4C>G	single nucleotide variant	not provided [RCV001433392]	Chr20:63994912 [GRCh38] Chr20:62626265 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.845C>T (p.Pro282Leu)	single nucleotide variant	Retinal dystrophy [RCV003888008]\|not provided [RCV001307523]	Chr20:63999118 [GRCh38] Chr20:62630471 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2022C>T (p.Thr674=)	single nucleotide variant	not provided [RCV001433882]	Chr20:64026052 [GRCh38] Chr20:62657405 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1740C>T (p.Ala580=)	single nucleotide variant	not provided [RCV001391843]	Chr20:64022849 [GRCh38] Chr20:62654202 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.312C>A (p.Ile104=)	single nucleotide variant	not provided [RCV001433909]	Chr20:63984978 [GRCh38] Chr20:62616331 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1023+4A>C	single nucleotide variant	not provided [RCV001349832]	Chr20:63999763 [GRCh38] Chr20:62631116 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.558C>T (p.Phe186=)	single nucleotide variant	not provided [RCV001392650]	Chr20:63995035 [GRCh38] Chr20:62626388 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2752G>A (p.Asp918Asn)	single nucleotide variant	Retinitis pigmentosa 60 [RCV001376447]	Chr20:64032919 [GRCh38] Chr20:62664272 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1908+3G>A	single nucleotide variant	not provided [RCV001362019]	Chr20:64024696 [GRCh38] Chr20:62656049 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.405C>T (p.Arg135=)	single nucleotide variant	not provided [RCV001397578]	Chr20:63993452 [GRCh38] Chr20:62624805 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2028+4C>G	single nucleotide variant	not provided [RCV001315370]	Chr20:64026062 [GRCh38] Chr20:62657415 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.192G>A (p.Gln64=)	single nucleotide variant	not provided [RCV001396477]	Chr20:63983167 [GRCh38] Chr20:62614520 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2186G>A (p.Arg729Gln)	single nucleotide variant	not provided [RCV001361061]	Chr20:64027139 [GRCh38] Chr20:62658492 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.703A>G (p.Thr235Ala)	single nucleotide variant	not provided [RCV001346468]\|not specified [RCV004036490]	Chr20:63995414 [GRCh38] Chr20:62626767 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2430C>T (p.Ser810=)	single nucleotide variant	not provided [RCV001371317]	Chr20:64028568 [GRCh38] Chr20:62659921 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2708G>T (p.Ser903Ile)	single nucleotide variant	not provided [RCV001321889]	Chr20:64032875 [GRCh38] Chr20:62664228 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.797C>A (p.Thr266Asn)	single nucleotide variant	not provided [RCV001322144]	Chr20:63999070 [GRCh38] Chr20:62630423 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2431+8G>T	single nucleotide variant	not provided [RCV001309973]	Chr20:64028577 [GRCh38] Chr20:62659930 [GRCh37] Chr20:20q13.33	likely benign\|uncertain significance
NM_012469.4(PRPF6):c.1736G>A (p.Arg579His)	single nucleotide variant	not provided [RCV001319189]	Chr20:64022845 [GRCh38] Chr20:62654198 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.143A>G (p.His48Arg)	single nucleotide variant	not provided [RCV001347654]	Chr20:63983118 [GRCh38] Chr20:62614471 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2095G>A (p.Glu699Lys)	single nucleotide variant	not provided [RCV001345416]	Chr20:64027048 [GRCh38] Chr20:62658401 [GRCh37] Chr20:20q13.33	uncertain significance
NC_000020.10:g.(?_62559699)_(62656066_?)dup	duplication	not provided [RCV001323558]	Chr20:62559699..62656066 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.545_546insGAC (p.Val182_Pro183insThr)	insertion	not provided [RCV001304448]	Chr20:63995022..63995023 [GRCh38] Chr20:62626375..62626376 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2780G>A (p.Gly927Glu)	single nucleotide variant	not provided [RCV001343084]	Chr20:64032947 [GRCh38] Chr20:62664300 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2432-2A>G	single nucleotide variant	not provided [RCV001321283]	Chr20:64029375 [GRCh38] Chr20:62660728 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1166A>C (p.Lys389Thr)	single nucleotide variant	not provided [RCV001318696]	Chr20:64001219 [GRCh38] Chr20:62632572 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.360G>A (p.Arg120=)	single nucleotide variant	not provided [RCV001314950]	Chr20:63993407 [GRCh38] Chr20:62624760 [GRCh37] Chr20:20q13.33	likely benign\|uncertain significance
NM_012469.4(PRPF6):c.1484G>A (p.Arg495Gln)	single nucleotide variant	not provided [RCV001361232]	Chr20:64011463 [GRCh38] Chr20:62642816 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2431+15_2431+36dup	duplication	not provided [RCV001461007]	Chr20:64028563..64028564 [GRCh38] Chr20:62659916..62659917 [GRCh37] Chr20:20q13.33	likely benign\|conflicting interpretations of pathogenicity
NM_012469.4(PRPF6):c.393T>C (p.Tyr131=)	single nucleotide variant	not provided [RCV001482650]	Chr20:63993440 [GRCh38] Chr20:62624793 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1306-17G>A	single nucleotide variant	not provided [RCV001519512]	Chr20:64011268 [GRCh38] Chr20:62642621 [GRCh37] Chr20:20q13.33	benign
NM_012469.4(PRPF6):c.1187-16G>T	single nucleotide variant	not provided [RCV001523184]	Chr20:64010184 [GRCh38] Chr20:62641537 [GRCh37] Chr20:20q13.33	benign
NM_012469.4(PRPF6):c.1152G>A (p.Thr384=)	single nucleotide variant	not provided [RCV001488237]	Chr20:64001205 [GRCh38] Chr20:62632558 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1993C>T (p.Leu665=)	single nucleotide variant	not provided [RCV001519960]	Chr20:64026023 [GRCh38] Chr20:62657376 [GRCh37] Chr20:20q13.33	benign
NM_012469.4(PRPF6):c.1770-4G>T	single nucleotide variant	not provided [RCV001439206]	Chr20:64024551 [GRCh38] Chr20:62655904 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1584C>T (p.Ala528=)	single nucleotide variant	not provided [RCV001483586]	Chr20:64016782 [GRCh38] Chr20:62648135 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1530C>T (p.Ala510=)	single nucleotide variant	Retinal dystrophy [RCV003888195]\|not provided [RCV001475707]	Chr20:64016728 [GRCh38] Chr20:62648081 [GRCh37] Chr20:20q13.33	benign\|likely benign
NM_012469.4(PRPF6):c.360-7T>A	single nucleotide variant	not provided [RCV001469499]	Chr20:63993400 [GRCh38] Chr20:62624753 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2547-18G>A	single nucleotide variant	not provided [RCV001489548]	Chr20:64031900 [GRCh38] Chr20:62663253 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2247C>T (p.Leu749=)	single nucleotide variant	not provided [RCV001485964]	Chr20:64027644 [GRCh38] Chr20:62658997 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2673+19C>T	single nucleotide variant	not provided [RCV001518920]	Chr20:64032063 [GRCh38] Chr20:62663416 [GRCh37] Chr20:20q13.33	benign
NM_012469.4(PRPF6):c.2490C>T (p.Ser830=)	single nucleotide variant	PRPF6-related disorder [RCV003908765]\|not provided [RCV001493696]	Chr20:64029435 [GRCh38] Chr20:62660788 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1306-4G>A	single nucleotide variant	not provided [RCV001403073]	Chr20:64011281 [GRCh38] Chr20:62642634 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1732C>T (p.Leu578=)	single nucleotide variant	not provided [RCV001399053]	Chr20:64022841 [GRCh38] Chr20:62654194 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2806C>T (p.Arg936Cys)	single nucleotide variant	Retinal dystrophy [RCV003888099]\|not provided [RCV001403114]	Chr20:64032973 [GRCh38] Chr20:62664326 [GRCh37] Chr20:20q13.33	benign\|likely benign
NM_012469.4(PRPF6):c.1080C>G (p.Ala360=)	single nucleotide variant	not provided [RCV001424745]	Chr20:64001133 [GRCh38] Chr20:62632486 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2004G>A (p.Ala668=)	single nucleotide variant	not provided [RCV001426343]	Chr20:64026034 [GRCh38] Chr20:62657387 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2649G>A (p.Lys883=)	single nucleotide variant	not provided [RCV001446419]	Chr20:64032020 [GRCh38] Chr20:62663373 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.93G>T (p.Arg31=)	single nucleotide variant	not provided [RCV001434240]	Chr20:63983068 [GRCh38] Chr20:62614421 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2322A>G (p.Pro774=)	single nucleotide variant	Retinal dystrophy [RCV003888133]\|not provided [RCV001425837]	Chr20:64027719 [GRCh38] Chr20:62659072 [GRCh37] Chr20:20q13.33	benign\|likely benign
NM_012469.4(PRPF6):c.1306-6G>A	single nucleotide variant	not provided [RCV001410603]	Chr20:64011279 [GRCh38] Chr20:62642632 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2790T>C (p.Leu930=)	single nucleotide variant	not provided [RCV001429279]	Chr20:64032957 [GRCh38] Chr20:62664310 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1524+8G>A	single nucleotide variant	not provided [RCV001426726]	Chr20:64011511 [GRCh38] Chr20:62642864 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.732C>T (p.Gly244=)	single nucleotide variant	not provided [RCV001408473]	Chr20:63995443 [GRCh38] Chr20:62626796 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1326G>A (p.Arg442=)	single nucleotide variant	not provided [RCV001419528]	Chr20:64011305 [GRCh38] Chr20:62642658 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.51C>T (p.Tyr17=)	single nucleotide variant	not provided [RCV001445521]	Chr20:63981296 [GRCh38] Chr20:62612649 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.866+19C>T	single nucleotide variant	not provided [RCV001401787]	Chr20:63999158 [GRCh38] Chr20:62630511 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.579C>T (p.Thr193=)	single nucleotide variant	Retinal dystrophy [RCV003888142]\|not provided [RCV001436947]	Chr20:63995056 [GRCh38] Chr20:62626409 [GRCh37] Chr20:20q13.33	benign\|likely benign
NM_012469.4(PRPF6):c.1179T>C (p.Leu393=)	single nucleotide variant	not provided [RCV001399057]	Chr20:64001232 [GRCh38] Chr20:62632585 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1769+15C>T	single nucleotide variant	not provided [RCV001438436]	Chr20:64022893 [GRCh38] Chr20:62654246 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.359+11T>C	single nucleotide variant	not provided [RCV001473135]	Chr20:63985036 [GRCh38] Chr20:62616389 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1299C>T (p.Ser433=)	single nucleotide variant	not provided [RCV001461969]	Chr20:64010312 [GRCh38] Chr20:62641665 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1695C>T (p.Tyr565=)	single nucleotide variant	PRPF6-related disorder [RCV003931126]\|Retinal dystrophy [RCV003888281]\|not provided [RCV001520737]	Chr20:64022804 [GRCh38] Chr20:62654157 [GRCh37] Chr20:20q13.33	benign\|likely benign
NM_012469.4(PRPF6):c.2431+15_2431+36del	deletion	not provided [RCV001506697]	Chr20:64028564..64028585 [GRCh38] Chr20:62659917..62659938 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.615+13A>G	single nucleotide variant	not provided [RCV001458976]	Chr20:63995105 [GRCh38] Chr20:62626458 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.87C>G (p.Thr29=)	single nucleotide variant	not provided [RCV001456279]	Chr20:63983062 [GRCh38] Chr20:62614415 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.772-13G>C	single nucleotide variant	not provided [RCV001456281]	Chr20:63999032 [GRCh38] Chr20:62630385 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.966T>C (p.Thr322=)	single nucleotide variant	not provided [RCV001470842]	Chr20:63999702 [GRCh38] Chr20:62631055 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.615+16A>T	single nucleotide variant	not provided [RCV001512856]	Chr20:63995108 [GRCh38] Chr20:62626461 [GRCh37] Chr20:20q13.33	benign
NM_012469.4(PRPF6):c.2431+8G>A	single nucleotide variant	not provided [RCV001436143]	Chr20:64028577 [GRCh38] Chr20:62659930 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2091G>C (p.Leu697=)	single nucleotide variant	not provided [RCV001428439]	Chr20:64027044 [GRCh38] Chr20:62658397 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2253G>A (p.Arg751=)	single nucleotide variant	not provided [RCV001441973]	Chr20:64027650 [GRCh38] Chr20:62659003 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1911C>G (p.Ala637=)	single nucleotide variant	not provided [RCV001518471]	Chr20:64025941 [GRCh38] Chr20:62657294 [GRCh37] Chr20:20q13.33	benign
NM_012469.4(PRPF6):c.417A>G (p.Gln139=)	single nucleotide variant	PRPF6-related disorder [RCV003966030]\|not provided [RCV001502936]	Chr20:63993464 [GRCh38] Chr20:62624817 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1024-14C>T	single nucleotide variant	not provided [RCV001520427]	Chr20:64001063 [GRCh38] Chr20:62632416 [GRCh37] Chr20:20q13.33	benign
NM_012469.4(PRPF6):c.177G>A (p.Gln59=)	single nucleotide variant	not provided [RCV001484405]	Chr20:63983152 [GRCh38] Chr20:62614505 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1191C>T (p.Leu397=)	single nucleotide variant	not provided [RCV001442399]	Chr20:64010204 [GRCh38] Chr20:62641557 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1770-8T>A	single nucleotide variant	not provided [RCV001511927]	Chr20:64024547 [GRCh38] Chr20:62655900 [GRCh37] Chr20:20q13.33	benign
NM_012469.4(PRPF6):c.2673+7C>T	single nucleotide variant	not provided [RCV001442466]	Chr20:64032051 [GRCh38] Chr20:62663404 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.309T>C (p.Ala103=)	single nucleotide variant	not provided [RCV001442467]	Chr20:63984975 [GRCh38] Chr20:62616328 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1024-9G>A	single nucleotide variant	not provided [RCV001481587]	Chr20:64001068 [GRCh38] Chr20:62632421 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2674-4C>G	single nucleotide variant	not provided [RCV001454007]	Chr20:64032837 [GRCh38] Chr20:62664190 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.207C>T (p.Asp69=)	single nucleotide variant	not provided [RCV001477987]	Chr20:63983182 [GRCh38] Chr20:62614535 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1187-4C>T	single nucleotide variant	not provided [RCV001476156]	Chr20:64010196 [GRCh38] Chr20:62641549 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1608G>A (p.Glu536=)	single nucleotide variant	not provided [RCV001429477]	Chr20:64016806 [GRCh38] Chr20:62648159 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2546+10dup	duplication	not provided [RCV001511832]	Chr20:64029497..64029498 [GRCh38] Chr20:62660850..62660851 [GRCh37] Chr20:20q13.33	benign
NM_012469.4(PRPF6):c.1890C>T (p.Ile630=)	single nucleotide variant	not provided [RCV001440568]	Chr20:64024675 [GRCh38] Chr20:62656028 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1737C>T (p.Arg579=)	single nucleotide variant	not provided [RCV001437011]	Chr20:64022846 [GRCh38] Chr20:62654199 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1306-5C>T	single nucleotide variant	not provided [RCV001393594]	Chr20:64011280 [GRCh38] Chr20:62642633 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.71+19C>G	single nucleotide variant	not provided [RCV001441152]	Chr20:63981335 [GRCh38] Chr20:62612688 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.165C>A (p.Thr55=)	single nucleotide variant	not provided [RCV001407151]	Chr20:63983140 [GRCh38] Chr20:62614493 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1842C>T (p.Gly614=)	single nucleotide variant	not provided [RCV001452249]	Chr20:64024627 [GRCh38] Chr20:62655980 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.48C>T (p.Gly16=)	single nucleotide variant	not provided [RCV001466577]	Chr20:63981293 [GRCh38] Chr20:62612646 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.72-9C>T	single nucleotide variant	not provided [RCV001466578]	Chr20:63983038 [GRCh38] Chr20:62614391 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1230C>T (p.Ala410=)	single nucleotide variant	not provided [RCV001468177]	Chr20:64010243 [GRCh38] Chr20:62641596 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.60G>C (p.Gly20=)	single nucleotide variant	not provided [RCV001505678]	Chr20:63981305 [GRCh38] Chr20:62612658 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2456T>G (p.Phe819Cys)	single nucleotide variant	not provided [RCV001772587]	Chr20:64029401 [GRCh38] Chr20:62660754 [GRCh37] Chr20:20q13.33	uncertain significance
GRCh37/hg19 20q13.33(chr20:61041481-62680992)	copy number loss	Seizures, benign familial neonatal, 1 [RCV001786555]	Chr20:61041481..62680992 [GRCh37] Chr20:20q13.33	likely pathogenic
GRCh37/hg19 20q13.33(chr20:61826780-62660844)	copy number loss	Seizures, benign familial neonatal, 1 [RCV001786550]	Chr20:61826780..62660844 [GRCh37] Chr20:20q13.33	likely pathogenic
GRCh37/hg19 20q13.33(chr20:61273854-62907579)	copy number loss	Seizures, benign familial neonatal, 1 [RCV001786556]	Chr20:61273854..62907579 [GRCh37] Chr20:20q13.33	likely pathogenic
GRCh37/hg19 20q13.33(chr20:61038552-62907579)	copy number loss	Seizures, benign familial neonatal, 1 [RCV001786557]	Chr20:61038552..62907579 [GRCh37] Chr20:20q13.33	likely pathogenic
NM_012469.4(PRPF6):c.2698C>T (p.Arg900Cys)	single nucleotide variant	Retinal dystrophy [RCV004817285]	Chr20:64032865 [GRCh38] Chr20:62664218 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2635G>A (p.Ala879Thr)	single nucleotide variant	Retinal dystrophy [RCV004817461]	Chr20:64032006 [GRCh38] Chr20:62663359 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1208C>T (p.Ser403Leu)	single nucleotide variant	not provided [RCV001947423]	Chr20:64010221 [GRCh38] Chr20:62641574 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1861G>A (p.Ala621Thr)	single nucleotide variant	not provided [RCV002008753]	Chr20:64024646 [GRCh38] Chr20:62655999 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.484G>A (p.Glu162Lys)	single nucleotide variant	not provided [RCV002025761]\|not specified [RCV004046094]	Chr20:63994961 [GRCh38] Chr20:62626314 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1596T>G (p.Ile532Met)	single nucleotide variant	not provided [RCV001930123]	Chr20:64016794 [GRCh38] Chr20:62648147 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1406C>T (p.Thr469Met)	single nucleotide variant	not provided [RCV002040597]	Chr20:64011385 [GRCh38] Chr20:62642738 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1390C>T (p.Arg464Ter)	single nucleotide variant	not provided [RCV001948019]	Chr20:64011369 [GRCh38] Chr20:62642722 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1231G>A (p.Val411Ile)	single nucleotide variant	Retinal dystrophy [RCV003888972]\|not provided [RCV001988515]\|not specified [RCV004847881]	Chr20:64010244 [GRCh38] Chr20:62641597 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.618A>G (p.Gln206=)	single nucleotide variant	not provided [RCV001863669]	Chr20:63995329 [GRCh38] Chr20:62626682 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1465C>T (p.Arg489Ter)	single nucleotide variant	not provided [RCV002008553]	Chr20:64011444 [GRCh38] Chr20:62642797 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.72C>T (p.Gly24=)	single nucleotide variant	not provided [RCV002008666]	Chr20:63983047 [GRCh38] Chr20:62614400 [GRCh37] Chr20:20q13.33	uncertain significance
GRCh37/hg19 20q13.33(chr20:61775756-62915555)x1	copy number loss	not provided [RCV001834246]	Chr20:61775756..62915555 [GRCh37] Chr20:20q13.33	pathogenic
NM_012469.4(PRPF6):c.1430A>G (p.Asn477Ser)	single nucleotide variant	not provided [RCV002043252]	Chr20:64011409 [GRCh38] Chr20:62642762 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1192G>A (p.Glu398Lys)	single nucleotide variant	not provided [RCV002004303]	Chr20:64010205 [GRCh38] Chr20:62641558 [GRCh37] Chr20:20q13.33	uncertain significance
NC_000020.10:g.(?_62616240)_(62616398_?)dup	duplication	not provided [RCV001911619]	Chr20:62616240..62616398 [GRCh37] Chr20:20q13.33	uncertain significance
GRCh37/hg19 20q13.32-13.33(chr20:56835739-62915555)	copy number gain	not specified [RCV002052713]	Chr20:56835739..62915555 [GRCh37] Chr20:20q13.32-13.33	pathogenic
NM_012469.4(PRPF6):c.2819C>T (p.Thr940Ile)	single nucleotide variant	not provided [RCV001890602]	Chr20:64032986 [GRCh38] Chr20:62664339 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.533A>G (p.Lys178Arg)	single nucleotide variant	not provided [RCV002039839]	Chr20:63995010 [GRCh38] Chr20:62626363 [GRCh37] Chr20:20q13.33	uncertain significance
GRCh37/hg19 20q13.33(chr20:61619222-62915555)	copy number loss	not specified [RCV002052718]	Chr20:61619222..62915555 [GRCh37] Chr20:20q13.33	pathogenic
NM_012469.4(PRPF6):c.2572A>G (p.Thr858Ala)	single nucleotide variant	not provided [RCV002044020]	Chr20:64031943 [GRCh38] Chr20:62663296 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1493G>A (p.Gly498Asp)	single nucleotide variant	not provided [RCV001970287]	Chr20:64011472 [GRCh38] Chr20:62642825 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2205+1G>T	single nucleotide variant	not provided [RCV001948223]	Chr20:64027159 [GRCh38] Chr20:62658512 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.186A>C (p.Lys62Asn)	single nucleotide variant	not provided [RCV001873130]	Chr20:63983161 [GRCh38] Chr20:62614514 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1625C>T (p.Thr542Ile)	single nucleotide variant	not provided [RCV001985414]	Chr20:64016823 [GRCh38] Chr20:62648176 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.341A>G (p.Glu114Gly)	single nucleotide variant	not provided [RCV002022012]	Chr20:63985007 [GRCh38] Chr20:62616360 [GRCh37] Chr20:20q13.33	uncertain significance
GRCh37/hg19 20q13.33(chr20:60473339-62915555)	copy number gain	not specified [RCV002052714]	Chr20:60473339..62915555 [GRCh37] Chr20:20q13.33	uncertain significance
GRCh37/hg19 20q13.33(chr20:61003263-62915555)	copy number loss	not specified [RCV002052717]	Chr20:61003263..62915555 [GRCh37] Chr20:20q13.33	pathogenic
NM_012469.4(PRPF6):c.2807G>A (p.Arg936His)	single nucleotide variant	not provided [RCV001962346]\|not specified [RCV004042117]	Chr20:64032974 [GRCh38] Chr20:62664327 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1151C>T (p.Thr384Met)	single nucleotide variant	not provided [RCV001978138]	Chr20:64001204 [GRCh38] Chr20:62632557 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1769+11G>A	single nucleotide variant	not provided [RCV001923746]	Chr20:64022889 [GRCh38] Chr20:62654242 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1764C>T (p.Gly588=)	single nucleotide variant	not provided [RCV002048358]	Chr20:64022873 [GRCh38] Chr20:62654226 [GRCh37] Chr20:20q13.33	likely benign\|uncertain significance
NM_012469.4(PRPF6):c.2599A>G (p.Thr867Ala)	single nucleotide variant	not provided [RCV001975759]	Chr20:64031970 [GRCh38] Chr20:62663323 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.71+6_71+7delinsAA	indel	not provided [RCV001924414]	Chr20:63981322..63981323 [GRCh38] Chr20:62612675..62612676 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2786T>A (p.Ile929Asn)	single nucleotide variant	not provided [RCV001941458]	Chr20:64032953 [GRCh38] Chr20:62664306 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1655C>T (p.Ala552Val)	single nucleotide variant	not provided [RCV002018915]	Chr20:64022764 [GRCh38] Chr20:62654117 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1593G>T (p.Gly531=)	single nucleotide variant	not provided [RCV001998382]	Chr20:64016791 [GRCh38] Chr20:62648144 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.515G>A (p.Arg172Gln)	single nucleotide variant	Retinal dystrophy [RCV003888953]\|not provided [RCV001990510]	Chr20:63994992 [GRCh38] Chr20:62626345 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.568C>T (p.His190Tyr)	single nucleotide variant	not provided [RCV002017416]	Chr20:63995045 [GRCh38] Chr20:62626398 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2548C>T (p.Leu850=)	single nucleotide variant	not provided [RCV001885586]	Chr20:64031919 [GRCh38] Chr20:62663272 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1573G>A (p.Val525Ile)	single nucleotide variant	not provided [RCV002037552]	Chr20:64016771 [GRCh38] Chr20:62648124 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2674-8C>A	single nucleotide variant	not provided [RCV002046794]	Chr20:64032833 [GRCh38] Chr20:62664186 [GRCh37] Chr20:20q13.33	likely benign\|uncertain significance
NM_012469.4(PRPF6):c.1156A>G (p.Ile386Val)	single nucleotide variant	not provided [RCV001952982]	Chr20:64001209 [GRCh38] Chr20:62632562 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2150A>C (p.Gln717Pro)	single nucleotide variant	not provided [RCV002010764]	Chr20:64027103 [GRCh38] Chr20:62658456 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1580G>T (p.Arg527Leu)	single nucleotide variant	not provided [RCV001958067]	Chr20:64016778 [GRCh38] Chr20:62648131 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2089C>A (p.Leu697Met)	single nucleotide variant	not provided [RCV002011454]	Chr20:64027042 [GRCh38] Chr20:62658395 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2711C>T (p.Ala904Val)	single nucleotide variant	not provided [RCV001979364]	Chr20:64032878 [GRCh38] Chr20:62664231 [GRCh37] Chr20:20q13.33	uncertain significance
NC_000020.10:g.(?_62624740)_(62626855_?)del	deletion	not provided [RCV001934994]	Chr20:62624740..62626855 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1555G>A (p.Val519Met)	single nucleotide variant	not provided [RCV002036080]	Chr20:64016753 [GRCh38] Chr20:62648106 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.508C>T (p.Arg170Cys)	single nucleotide variant	not provided [RCV001879188]	Chr20:63994985 [GRCh38] Chr20:62626338 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.509G>A (p.Arg170His)	single nucleotide variant	not provided [RCV002035130]	Chr20:63994986 [GRCh38] Chr20:62626339 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2350G>A (p.Val784Met)	single nucleotide variant	not provided [RCV001940434]	Chr20:64028488 [GRCh38] Chr20:62659841 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.826G>T (p.Asp276Tyr)	single nucleotide variant	not provided [RCV002016736]	Chr20:63999099 [GRCh38] Chr20:62630452 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2366G>A (p.Arg789His)	single nucleotide variant	not provided [RCV001932013]	Chr20:64028504 [GRCh38] Chr20:62659857 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1694A>G (p.Tyr565Cys)	single nucleotide variant	not provided [RCV002030401]	Chr20:64022803 [GRCh38] Chr20:62654156 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2615C>T (p.Ser872Leu)	single nucleotide variant	Retinal dystrophy [RCV003888992]\|not provided [RCV002015846]	Chr20:64031986 [GRCh38] Chr20:62663339 [GRCh37] Chr20:20q13.33	benign\|uncertain significance
NM_012469.4(PRPF6):c.2023G>T (p.Ala675Ser)	single nucleotide variant	not provided [RCV001904990]	Chr20:64026053 [GRCh38] Chr20:62657406 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.562G>A (p.Ala188Thr)	single nucleotide variant	not provided [RCV001938328]	Chr20:63995039 [GRCh38] Chr20:62626392 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.904C>T (p.Arg302Trp)	single nucleotide variant	not provided [RCV001897604]	Chr20:63999640 [GRCh38] Chr20:62630993 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2596C>T (p.Arg866Cys)	single nucleotide variant	not provided [RCV002019159]	Chr20:64031967 [GRCh38] Chr20:62663320 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.772-12C>T	single nucleotide variant	not provided [RCV001998593]	Chr20:63999033 [GRCh38] Chr20:62630386 [GRCh37] Chr20:20q13.33	likely benign\|uncertain significance
NM_012469.4(PRPF6):c.1491C>A (p.Asn497Lys)	single nucleotide variant	not provided [RCV001951955]	Chr20:64011470 [GRCh38] Chr20:62642823 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2678A>T (p.Gln893Leu)	single nucleotide variant	not provided [RCV001933979]	Chr20:64032845 [GRCh38] Chr20:62664198 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2819C>G (p.Thr940Ser)	single nucleotide variant	not provided [RCV001992697]	Chr20:64032986 [GRCh38] Chr20:62664339 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1394A>G (p.His465Arg)	single nucleotide variant	not provided [RCV001937290]	Chr20:64011373 [GRCh38] Chr20:62642726 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2155G>A (p.Glu719Lys)	single nucleotide variant	not provided [RCV001954047]\|not specified [RCV004044439]	Chr20:64027108 [GRCh38] Chr20:62658461 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1696G>T (p.Ala566Ser)	single nucleotide variant	not provided [RCV001975910]	Chr20:64022805 [GRCh38] Chr20:62654158 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.566A>G (p.Lys189Arg)	single nucleotide variant	not provided [RCV001902328]\|not specified [RCV004039846]	Chr20:63995043 [GRCh38] Chr20:62626396 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.789T>C (p.Ser263=)	single nucleotide variant	not provided [RCV002073450]	Chr20:63999062 [GRCh38] Chr20:62630415 [GRCh37] Chr20:20q13.33	benign
NM_012469.4(PRPF6):c.291T>C (p.Asp97=)	single nucleotide variant	not provided [RCV002186234]	Chr20:63984957 [GRCh38] Chr20:62616310 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2253G>T (p.Arg751=)	single nucleotide variant	not provided [RCV002186407]	Chr20:64027650 [GRCh38] Chr20:62659003 [GRCh37] Chr20:20q13.33	benign
NM_012469.4(PRPF6):c.2103C>G (p.Ala701=)	single nucleotide variant	not provided [RCV002090681]	Chr20:64027056 [GRCh38] Chr20:62658409 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2802C>T (p.Ala934=)	single nucleotide variant	not provided [RCV002125918]	Chr20:64032969 [GRCh38] Chr20:62664322 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1596T>C (p.Ile532=)	single nucleotide variant	not provided [RCV002146174]	Chr20:64016794 [GRCh38] Chr20:62648147 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.439-20T>G	single nucleotide variant	not provided [RCV002186747]	Chr20:63994896 [GRCh38] Chr20:62626249 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.438+8G>A	single nucleotide variant	not provided [RCV002148535]	Chr20:63993493 [GRCh38] Chr20:62624846 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2676G>A (p.Glu892=)	single nucleotide variant	not provided [RCV002167463]	Chr20:64032843 [GRCh38] Chr20:62664196 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1908+16C>T	single nucleotide variant	not provided [RCV002071181]	Chr20:64024709 [GRCh38] Chr20:62656062 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1024-20T>C	single nucleotide variant	not provided [RCV002209113]	Chr20:64001057 [GRCh38] Chr20:62632410 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.438+16G>A	single nucleotide variant	not provided [RCV002110213]	Chr20:63993501 [GRCh38] Chr20:62624854 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.615+16del	deletion	not provided [RCV002190795]	Chr20:63995103 [GRCh38] Chr20:62626456 [GRCh37] Chr20:20q13.33	benign
NM_012469.4(PRPF6):c.2397C>T (p.Leu799=)	single nucleotide variant	not provided [RCV002128994]	Chr20:64028535 [GRCh38] Chr20:62659888 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.816C>T (p.Gly272=)	single nucleotide variant	not provided [RCV002085675]	Chr20:63999089 [GRCh38] Chr20:62630442 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.201C>T (p.Asp67=)	single nucleotide variant	not provided [RCV002185870]	Chr20:63983176 [GRCh38] Chr20:62614529 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2673+12C>T	single nucleotide variant	not provided [RCV002089371]	Chr20:64032056 [GRCh38] Chr20:62663409 [GRCh37] Chr20:20q13.33	benign
NM_012469.4(PRPF6):c.2691G>A (p.Val897=)	single nucleotide variant	PRPF6-related disorder [RCV003911207]\|not provided [RCV002164881]	Chr20:64032858 [GRCh38] Chr20:62664211 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2403C>G (p.Ala801=)	single nucleotide variant	not provided [RCV002206513]	Chr20:64028541 [GRCh38] Chr20:62659894 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1480C>T (p.Leu494=)	single nucleotide variant	not provided [RCV002209144]	Chr20:64011459 [GRCh38] Chr20:62642812 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1647+19C>A	single nucleotide variant	not provided [RCV002145114]	Chr20:64016864 [GRCh38] Chr20:62648217 [GRCh37] Chr20:20q13.33	benign
NM_012469.4(PRPF6):c.2160G>A (p.Glu720=)	single nucleotide variant	not provided [RCV002110914]	Chr20:64027113 [GRCh38] Chr20:62658466 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1769+16C>T	single nucleotide variant	not provided [RCV002146291]	Chr20:64022894 [GRCh38] Chr20:62654247 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1827G>A (p.Val609=)	single nucleotide variant	not provided [RCV002088605]	Chr20:64024612 [GRCh38] Chr20:62655965 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1563C>G (p.Thr521=)	single nucleotide variant	not provided [RCV002187854]	Chr20:64016761 [GRCh38] Chr20:62648114 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.165C>T (p.Thr55=)	single nucleotide variant	not provided [RCV002134921]	Chr20:63983140 [GRCh38] Chr20:62614493 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.225C>T (p.Asp75=)	single nucleotide variant	not provided [RCV002216362]	Chr20:63983200 [GRCh38] Chr20:62614553 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.241-19C>T	single nucleotide variant	not provided [RCV002079193]	Chr20:63984888 [GRCh38] Chr20:62616241 [GRCh37] Chr20:20q13.33	benign
NM_012469.4(PRPF6):c.359+13G>T	single nucleotide variant	not provided [RCV002212615]	Chr20:63985038 [GRCh38] Chr20:62616391 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.927G>A (p.Pro309=)	single nucleotide variant	not provided [RCV002189606]	Chr20:63999663 [GRCh38] Chr20:62631016 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1908+10G>A	single nucleotide variant	not provided [RCV002076070]	Chr20:64024703 [GRCh38] Chr20:62656056 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.942A>G (p.Ala314=)	single nucleotide variant	not provided [RCV002173799]	Chr20:63999678 [GRCh38] Chr20:62631031 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.867-13C>T	single nucleotide variant	not provided [RCV002085697]	Chr20:63999590 [GRCh38] Chr20:62630943 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.771+17G>A	single nucleotide variant	not provided [RCV002169202]	Chr20:63995499 [GRCh38] Chr20:62626852 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1143G>A (p.Glu381=)	single nucleotide variant	not provided [RCV002077495]	Chr20:64001196 [GRCh38] Chr20:62632549 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1002G>A (p.Lys334=)	single nucleotide variant	not provided [RCV002090187]	Chr20:63999738 [GRCh38] Chr20:62631091 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2523C>A (p.Pro841=)	single nucleotide variant	not provided [RCV002214640]	Chr20:64029468 [GRCh38] Chr20:62660821 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2205+16C>T	single nucleotide variant	not provided [RCV002150470]	Chr20:64027174 [GRCh38] Chr20:62658527 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.852C>T (p.His284=)	single nucleotide variant	not provided [RCV002151633]	Chr20:63999125 [GRCh38] Chr20:62630478 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.240+20C>T	single nucleotide variant	not provided [RCV002074749]	Chr20:63983235 [GRCh38] Chr20:62614588 [GRCh37] Chr20:20q13.33	benign
NM_012469.4(PRPF6):c.2674-3dup	duplication	not provided [RCV002125078]	Chr20:64032832..64032833 [GRCh38] Chr20:62664185..62664186 [GRCh37] Chr20:20q13.33	benign
NM_012469.4(PRPF6):c.2431+16G>A	single nucleotide variant	not provided [RCV002129283]	Chr20:64028585 [GRCh38] Chr20:62659938 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1491C>T (p.Asn497=)	single nucleotide variant	not provided [RCV002105649]	Chr20:64011470 [GRCh38] Chr20:62642823 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2739C>T (p.Cys913=)	single nucleotide variant	not provided [RCV002096890]	Chr20:64032906 [GRCh38] Chr20:62664259 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2206-15A>T	single nucleotide variant	not provided [RCV002134429]	Chr20:64027588 [GRCh38] Chr20:62658941 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1648-13C>T	single nucleotide variant	not provided [RCV002194366]	Chr20:64022744 [GRCh38] Chr20:62654097 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2598C>T (p.Arg866=)	single nucleotide variant	not provided [RCV002174465]	Chr20:64031969 [GRCh38] Chr20:62663322 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1186+14G>C	single nucleotide variant	not provided [RCV002196259]	Chr20:64001253 [GRCh38] Chr20:62632606 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2673+20C>T	single nucleotide variant	not provided [RCV002134702]	Chr20:64032064 [GRCh38] Chr20:62663417 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2340-16G>C	single nucleotide variant	not provided [RCV002097114]	Chr20:64028462 [GRCh38] Chr20:62659815 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2370G>A (p.Ala790=)	single nucleotide variant	not provided [RCV002133512]	Chr20:64028508 [GRCh38] Chr20:62659861 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1950G>A (p.Lys650=)	single nucleotide variant	not provided [RCV002174628]	Chr20:64025980 [GRCh38] Chr20:62657333 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2028+15G>A	single nucleotide variant	not provided [RCV002201798]	Chr20:64026073 [GRCh38] Chr20:62657426 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1187-17C>T	single nucleotide variant	not provided [RCV002179322]	Chr20:64010183 [GRCh38] Chr20:62641536 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1909-15G>A	single nucleotide variant	not provided [RCV002118079]	Chr20:64025924 [GRCh38] Chr20:62657277 [GRCh37] Chr20:20q13.33	benign
NM_012469.4(PRPF6):c.306T>C (p.Asp102=)	single nucleotide variant	not provided [RCV002177945]	Chr20:63984972 [GRCh38] Chr20:62616325 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1611A>G (p.Glu537=)	single nucleotide variant	not provided [RCV002138009]	Chr20:64016809 [GRCh38] Chr20:62648162 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2571C>T (p.Ile857=)	single nucleotide variant	not provided [RCV002221133]	Chr20:64031942 [GRCh38] Chr20:62663295 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.735A>G (p.Gln245=)	single nucleotide variant	not provided [RCV002099167]	Chr20:63995446 [GRCh38] Chr20:62626799 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.825G>C (p.Thr275=)	single nucleotide variant	not provided [RCV002199054]	Chr20:63999098 [GRCh38] Chr20:62630451 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2385C>T (p.Ile795=)	single nucleotide variant	not provided [RCV002142179]	Chr20:64028523 [GRCh38] Chr20:62659876 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1845C>G (p.Ala615=)	single nucleotide variant	not provided [RCV002164769]	Chr20:64024630 [GRCh38] Chr20:62655983 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.71+15G>T	single nucleotide variant	not provided [RCV002181065]	Chr20:63981331 [GRCh38] Chr20:62612684 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1074C>G (p.Ala358=)	single nucleotide variant	not provided [RCV002175384]	Chr20:64001127 [GRCh38] Chr20:62632480 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.439-19G>C	single nucleotide variant	not provided [RCV002203727]	Chr20:63994897 [GRCh38] Chr20:62626250 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2340-16G>A	single nucleotide variant	not provided [RCV002198021]	Chr20:64028462 [GRCh38] Chr20:62659815 [GRCh37] Chr20:20q13.33	benign
NM_012469.4(PRPF6):c.72-15G>C	single nucleotide variant	not provided [RCV002181399]	Chr20:63983032 [GRCh38] Chr20:62614385 [GRCh37] Chr20:20q13.33	benign
NM_012469.4(PRPF6):c.798C>T (p.Thr266=)	single nucleotide variant	PRPF6-related disorder [RCV003913776]\|not provided [RCV002081566]	Chr20:63999071 [GRCh38] Chr20:62630424 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2340-14G>T	single nucleotide variant	not provided [RCV002143122]	Chr20:64028464 [GRCh38] Chr20:62659817 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2538C>T (p.Ala846=)	single nucleotide variant	not provided [RCV002216936]	Chr20:64029483 [GRCh38] Chr20:62660836 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1959C>T (p.Ser653=)	single nucleotide variant	Retinal dystrophy [RCV003889082]\|not provided [RCV002135894]	Chr20:64025989 [GRCh38] Chr20:62657342 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2432-19C>G	single nucleotide variant	not provided [RCV002217030]	Chr20:64029358 [GRCh38] Chr20:62660711 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2154C>T (p.Ile718=)	single nucleotide variant	not provided [RCV002098440]	Chr20:64027107 [GRCh38] Chr20:62658460 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2007G>C (p.Arg669=)	single nucleotide variant	not provided [RCV002121984]	Chr20:64026037 [GRCh38] Chr20:62657390 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.375A>G (p.Lys125=)	single nucleotide variant	not provided [RCV002177922]	Chr20:63993422 [GRCh38] Chr20:62624775 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1186+14G>A	single nucleotide variant	not provided [RCV002162109]	Chr20:64001253 [GRCh38] Chr20:62632606 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.72-9C>G	single nucleotide variant	not provided [RCV002143508]	Chr20:63983038 [GRCh38] Chr20:62614391 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.241-18G>A	single nucleotide variant	not provided [RCV002164134]	Chr20:63984889 [GRCh38] Chr20:62616242 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1647+12A>G	single nucleotide variant	not provided [RCV002178205]	Chr20:64016857 [GRCh38] Chr20:62648210 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.390A>G (p.Lys130=)	single nucleotide variant	not provided [RCV002138359]	Chr20:63993437 [GRCh38] Chr20:62624790 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.439-8del	deletion	not provided [RCV002200908]	Chr20:63994908 [GRCh38] Chr20:62626261 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2674-20G>A	single nucleotide variant	not provided [RCV002164404]	Chr20:64032821 [GRCh38] Chr20:62664174 [GRCh37] Chr20:20q13.33	benign
NM_012469.4(PRPF6):c.825G>A (p.Thr275=)	single nucleotide variant	not provided [RCV002144132]	Chr20:63999098 [GRCh38] Chr20:62630451 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.882G>A (p.Ala294=)	single nucleotide variant	not provided [RCV002162915]	Chr20:63999618 [GRCh38] Chr20:62630971 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.168T>C (p.Val56=)	single nucleotide variant	not provided [RCV002201356]	Chr20:63983143 [GRCh38] Chr20:62614496 [GRCh37] Chr20:20q13.33	benign
NM_012469.4(PRPF6):c.2431+36_2431+57del	deletion	not provided [RCV002204793]	Chr20:64028585..64028606 [GRCh38] Chr20:62659938..62659959 [GRCh37] Chr20:20q13.33	benign
NM_012469.4(PRPF6):c.2431+35_2431+78del	deletion	not provided [RCV002175366]	Chr20:64028585..64028628 [GRCh38] Chr20:62659938..62659981 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1187-16G>A	single nucleotide variant	not provided [RCV002161159]	Chr20:64010184 [GRCh38] Chr20:62641537 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1377C>T (p.Asn459=)	single nucleotide variant	not provided [RCV002161225]	Chr20:64011356 [GRCh38] Chr20:62642709 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1648-13C>G	single nucleotide variant	not provided [RCV002083718]	Chr20:64022744 [GRCh38] Chr20:62654097 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.210C>T (p.Asp70=)	single nucleotide variant	not provided [RCV002175722]	Chr20:63983185 [GRCh38] Chr20:62614538 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1525-24_1525-18del	deletion	not provided [RCV002155239]	Chr20:64016699..64016705 [GRCh38] Chr20:62648052..62648058 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1461C>T (p.Ile487=)	single nucleotide variant	not provided [RCV002140188]\|not specified [RCV004046607]	Chr20:64011440 [GRCh38] Chr20:62642793 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.71+8C>T	single nucleotide variant	not provided [RCV002161557]	Chr20:63981324 [GRCh38] Chr20:62612677 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1648-11C>T	single nucleotide variant	not provided [RCV002135532]	Chr20:64022746 [GRCh38] Chr20:62654099 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1769+17G>A	single nucleotide variant	not provided [RCV002137587]	Chr20:64022895 [GRCh38] Chr20:62654248 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.738G>A (p.Ala246=)	single nucleotide variant	not provided [RCV002103858]	Chr20:63995449 [GRCh38] Chr20:62626802 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.771+15C>A	single nucleotide variant	not provided [RCV002160354]	Chr20:63995497 [GRCh38] Chr20:62626850 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2640C>T (p.Phe880=)	single nucleotide variant	not provided [RCV002176605]	Chr20:64032011 [GRCh38] Chr20:62663364 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1306-18C>T	single nucleotide variant	not provided [RCV002161249]	Chr20:64011267 [GRCh38] Chr20:62642620 [GRCh37] Chr20:20q13.33	likely benign
NC_000020.10:g.(?_62559699)_(62680869_?)dup	duplication	not provided [RCV003116615]	Chr20:62559699..62680869 [GRCh37] Chr20:20q13.33	uncertain significance
GRCh37/hg19 20q13.33(chr20:60621074-62915555)x3	copy number gain	not provided [RCV002473575]	Chr20:60621074..62915555 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1086A>G (p.Val362=)	single nucleotide variant	not provided [RCV002681239]	Chr20:64001139 [GRCh38] Chr20:62632492 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2026C>T (p.Arg676Trp)	single nucleotide variant	not provided [RCV002304169]	Chr20:64026056 [GRCh38] Chr20:62657409 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1123A>T (p.Ile375Phe)	single nucleotide variant	not provided [RCV002305273]	Chr20:64001176 [GRCh38] Chr20:62632529 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.238G>A (p.Glu80Lys)	single nucleotide variant	not provided [RCV002295143]	Chr20:63983213 [GRCh38] Chr20:62614566 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.202G>A (p.Asp68Asn)	single nucleotide variant	not provided [RCV002297822]	Chr20:63983177 [GRCh38] Chr20:62614530 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.565A>G (p.Lys189Glu)	single nucleotide variant	not provided [RCV002302071]	Chr20:63995042 [GRCh38] Chr20:62626395 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.772-11C>G	single nucleotide variant	not provided [RCV002726490]	Chr20:63999034 [GRCh38] Chr20:62630387 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2578G>A (p.Ala860Thr)	single nucleotide variant	not specified [RCV004122499]	Chr20:64031949 [GRCh38] Chr20:62663302 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2813A>C (p.Lys938Thr)	single nucleotide variant	not provided [RCV002991830]	Chr20:64032980 [GRCh38] Chr20:62664333 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2354G>A (p.Arg785Gln)	single nucleotide variant	not provided [RCV002700473]\|not specified [RCV004066920]	Chr20:64028492 [GRCh38] Chr20:62659845 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1908+4G>C	single nucleotide variant	not provided [RCV003032870]	Chr20:64024697 [GRCh38] Chr20:62656050 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.354A>C (p.Glu118Asp)	single nucleotide variant	not provided [RCV003014974]	Chr20:63985020 [GRCh38] Chr20:62616373 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.870T>C (p.Asp290=)	single nucleotide variant	not provided [RCV002685521]	Chr20:63999606 [GRCh38] Chr20:62630959 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1836C>T (p.Leu612=)	single nucleotide variant	not provided [RCV002820022]	Chr20:64024621 [GRCh38] Chr20:62655974 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.190C>A (p.Gln64Lys)	single nucleotide variant	not provided [RCV002843841]	Chr20:63983165 [GRCh38] Chr20:62614518 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2674-12T>C	single nucleotide variant	not provided [RCV002995897]	Chr20:64032829 [GRCh38] Chr20:62664182 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.579C>G (p.Thr193=)	single nucleotide variant	not provided [RCV002617451]	Chr20:63995056 [GRCh38] Chr20:62626409 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.760_761del (p.Arg254fs)	deletion	not provided [RCV002843173]	Chr20:63995470..63995471 [GRCh38] Chr20:62626823..62626824 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1300G>A (p.Val434Met)	single nucleotide variant	not provided [RCV002618067]	Chr20:64010313 [GRCh38] Chr20:62641666 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.271A>G (p.Ser91Gly)	single nucleotide variant	not provided [RCV002636099]	Chr20:63984937 [GRCh38] Chr20:62616290 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.615+16A>G	single nucleotide variant	not provided [RCV002991859]	Chr20:63995108 [GRCh38] Chr20:62626461 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2339+20G>T	single nucleotide variant	not provided [RCV002774939]	Chr20:64027756 [GRCh38] Chr20:62659109 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.717C>T (p.Asp239=)	single nucleotide variant	not provided [RCV002686148]	Chr20:63995428 [GRCh38] Chr20:62626781 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.927G>T (p.Pro309=)	single nucleotide variant	not provided [RCV002862485]	Chr20:63999663 [GRCh38] Chr20:62631016 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1572C>T (p.Ala524=)	single nucleotide variant	not provided [RCV002751280]	Chr20:64016770 [GRCh38] Chr20:62648123 [GRCh37] Chr20:20q13.33	benign
NM_012469.4(PRPF6):c.1779G>C (p.Leu593=)	single nucleotide variant	not provided [RCV002843005]	Chr20:64024564 [GRCh38] Chr20:62655917 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2166G>A (p.Lys722=)	single nucleotide variant	not provided [RCV002838735]	Chr20:64027119 [GRCh38] Chr20:62658472 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2205+3A>G	single nucleotide variant	not provided [RCV002794787]	Chr20:64027161 [GRCh38] Chr20:62658514 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1794G>A (p.Gln598=)	single nucleotide variant	not provided [RCV003011871]	Chr20:64024579 [GRCh38] Chr20:62655932 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2758G>A (p.Ala920Thr)	single nucleotide variant	not provided [RCV002622443]	Chr20:64032925 [GRCh38] Chr20:62664278 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.883C>T (p.Arg295Ter)	single nucleotide variant	not provided [RCV002740442]	Chr20:63999619 [GRCh38] Chr20:62630972 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.240+10G>A	single nucleotide variant	not provided [RCV002928110]	Chr20:63983225 [GRCh38] Chr20:62614578 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1689C>T (p.Tyr563=)	single nucleotide variant	not provided [RCV002639358]	Chr20:64022798 [GRCh38] Chr20:62654151 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2754C>T (p.Asp918=)	single nucleotide variant	not provided [RCV002871123]	Chr20:64032921 [GRCh38] Chr20:62664274 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2200C>G (p.Gln734Glu)	single nucleotide variant	not provided [RCV002662852]	Chr20:64027153 [GRCh38] Chr20:62658506 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2205+5G>A	single nucleotide variant	not provided [RCV003002349]	Chr20:64027163 [GRCh38] Chr20:62658516 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2028+16C>A	single nucleotide variant	not provided [RCV002736843]	Chr20:64026074 [GRCh38] Chr20:62657427 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.771+13C>T	single nucleotide variant	not provided [RCV002570014]	Chr20:63995495 [GRCh38] Chr20:62626848 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.234C>T (p.Tyr78=)	single nucleotide variant	not provided [RCV002866204]	Chr20:63983209 [GRCh38] Chr20:62614562 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.359+16G>C	single nucleotide variant	not provided [RCV002912535]	Chr20:63985041 [GRCh38] Chr20:62616394 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2744T>C (p.Val915Ala)	single nucleotide variant	not specified [RCV004158919]	Chr20:64032911 [GRCh38] Chr20:62664264 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2598_2599delinsAT (p.Thr867Ser)	indel	not provided [RCV002695772]	Chr20:64031969..64031970 [GRCh38] Chr20:62663322..62663323 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.979G>A (p.Val327Ile)	single nucleotide variant	not provided [RCV002885955]	Chr20:63999715 [GRCh38] Chr20:62631068 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2674-17C>T	single nucleotide variant	not provided [RCV002824860]	Chr20:64032824 [GRCh38] Chr20:62664177 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1923T>C (p.Ser641=)	single nucleotide variant	not provided [RCV002695127]	Chr20:64025953 [GRCh38] Chr20:62657306 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.905G>A (p.Arg302Gln)	single nucleotide variant	not provided [RCV002622780]	Chr20:63999641 [GRCh38] Chr20:62630994 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.463G>A (p.Glu155Lys)	single nucleotide variant	not specified [RCV004150551]	Chr20:63994940 [GRCh38] Chr20:62626293 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2108G>A (p.Arg703Gln)	single nucleotide variant	not provided [RCV003054400]	Chr20:64027061 [GRCh38] Chr20:62658414 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.867-10C>T	single nucleotide variant	not provided [RCV002571146]	Chr20:63999593 [GRCh38] Chr20:62630946 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.72-20G>A	single nucleotide variant	not provided [RCV002867297]	Chr20:63983027 [GRCh38] Chr20:62614380 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.217C>T (p.Leu73=)	single nucleotide variant	not provided [RCV003038023]	Chr20:63983192 [GRCh38] Chr20:62614545 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2388A>G (p.Ala796=)	single nucleotide variant	not provided [RCV002913835]	Chr20:64028526 [GRCh38] Chr20:62659879 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.737C>T (p.Ala246Val)	single nucleotide variant	not provided [RCV002761011]	Chr20:63995448 [GRCh38] Chr20:62626801 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2720G>A (p.Arg907Gln)	single nucleotide variant	not provided [RCV003057117]	Chr20:64032887 [GRCh38] Chr20:62664240 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1692C>T (p.Ala564=)	single nucleotide variant	not provided [RCV002627207]	Chr20:64022801 [GRCh38] Chr20:62654154 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2205+4C>T	single nucleotide variant	not provided [RCV002574316]	Chr20:64027162 [GRCh38] Chr20:62658515 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2339+15G>A	single nucleotide variant	not provided [RCV002958921]	Chr20:64027751 [GRCh38] Chr20:62659104 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2660A>C (p.Gln887Pro)	single nucleotide variant	not provided [RCV002667996]	Chr20:64032031 [GRCh38] Chr20:62663384 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1132A>G (p.Arg378Gly)	single nucleotide variant	not specified [RCV004128518]	Chr20:64001185 [GRCh38] Chr20:62632538 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2052G>A (p.Leu684=)	single nucleotide variant	not provided [RCV002829334]	Chr20:64027005 [GRCh38] Chr20:62658358 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2431+14_2431+57del	deletion	not provided [RCV002623692]	Chr20:64028564..64028607 [GRCh38] Chr20:62659917..62659960 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1648-19A>C	single nucleotide variant	not provided [RCV003058035]	Chr20:64022738 [GRCh38] Chr20:62654091 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2252G>A (p.Arg751Gln)	single nucleotide variant	Retinal dystrophy [RCV003889174]\|not provided [RCV002890454]	Chr20:64027649 [GRCh38] Chr20:62659002 [GRCh37] Chr20:20q13.33	likely benign\|uncertain significance
NM_012469.4(PRPF6):c.1338T>C (p.Tyr446=)	single nucleotide variant	not provided [RCV002953929]	Chr20:64011317 [GRCh38] Chr20:62642670 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.926C>T (p.Pro309Leu)	single nucleotide variant	not provided [RCV003041054]	Chr20:63999662 [GRCh38] Chr20:62631015 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2740G>T (p.Ala914Ser)	single nucleotide variant	not provided [RCV002626012]	Chr20:64032907 [GRCh38] Chr20:62664260 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.360-16A>C	single nucleotide variant	not provided [RCV003055976]	Chr20:63993391 [GRCh38] Chr20:62624744 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1770-20C>T	single nucleotide variant	not provided [RCV002574076]	Chr20:64024535 [GRCh38] Chr20:62655888 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1440G>A (p.Thr480=)	single nucleotide variant	not provided [RCV002593670]	Chr20:64011419 [GRCh38] Chr20:62642772 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2309G>A (p.Arg770His)	single nucleotide variant	not provided [RCV002623755]	Chr20:64027706 [GRCh38] Chr20:62659059 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.71+18G>A	single nucleotide variant	not provided [RCV002711485]	Chr20:63981334 [GRCh38] Chr20:62612687 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.810dup (p.Lys271fs)	duplication	not provided [RCV002851844]	Chr20:63999079..63999080 [GRCh38] Chr20:62630432..62630433 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.108C>T (p.Pro36=)	single nucleotide variant	not provided [RCV002593954]	Chr20:63983083 [GRCh38] Chr20:62614436 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.714G>A (p.Leu238=)	single nucleotide variant	not provided [RCV002957241]	Chr20:63995425 [GRCh38] Chr20:62626778 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2431+1G>A	single nucleotide variant	not provided [RCV002890455]	Chr20:64028570 [GRCh38] Chr20:62659923 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2308C>T (p.Arg770Cys)	single nucleotide variant	not provided [RCV002851871]	Chr20:64027705 [GRCh38] Chr20:62659058 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.72-13G>C	single nucleotide variant	not provided [RCV003024119]	Chr20:63983034 [GRCh38] Chr20:62614387 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.904C>G (p.Arg302Gly)	single nucleotide variant	Retinal dystrophy [RCV004818266]\|not specified [RCV004135580]	Chr20:63999640 [GRCh38] Chr20:62630993 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.453A>C (p.Glu151Asp)	single nucleotide variant	not provided [RCV002643569]	Chr20:63994930 [GRCh38] Chr20:62626283 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2176G>A (p.Glu726Lys)	single nucleotide variant	not provided [RCV003039924]	Chr20:64027129 [GRCh38] Chr20:62658482 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2431+14_2431+15insTGACTCCGGTAAGGGGGTGCCC	insertion	not provided [RCV003084291]	Chr20:64028563..64028564 [GRCh38] Chr20:62659916..62659917 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2515C>G (p.His839Asp)	single nucleotide variant	not provided [RCV003057656]	Chr20:64029460 [GRCh38] Chr20:62660813 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1524+5G>A	single nucleotide variant	not provided [RCV002574904]	Chr20:64011508 [GRCh38] Chr20:62642861 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.144T>C (p.His48=)	single nucleotide variant	not provided [RCV002631872]	Chr20:63983119 [GRCh38] Chr20:62614472 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2434A>G (p.Ile812Val)	single nucleotide variant	not provided [RCV003063794]	Chr20:64029379 [GRCh38] Chr20:62660732 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1908+18G>A	single nucleotide variant	not provided [RCV002631841]	Chr20:64024711 [GRCh38] Chr20:62656064 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2704G>A (p.Glu902Lys)	single nucleotide variant	not provided [RCV003065117]	Chr20:64032871 [GRCh38] Chr20:62664224 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.864C>T (p.Ile288=)	single nucleotide variant	not provided [RCV002811110]	Chr20:63999137 [GRCh38] Chr20:62630490 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2674-3del	deletion	not provided [RCV002600651]	Chr20:64032833 [GRCh38] Chr20:62664186 [GRCh37] Chr20:20q13.33	benign
NM_012469.4(PRPF6):c.2078C>T (p.Ala693Val)	single nucleotide variant	not provided [RCV002577007]	Chr20:64027031 [GRCh38] Chr20:62658384 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.359+18C>T	single nucleotide variant	not provided [RCV003029554]	Chr20:63985043 [GRCh38] Chr20:62616396 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1107C>T (p.Leu369=)	single nucleotide variant	not provided [RCV002856844]	Chr20:64001160 [GRCh38] Chr20:62632513 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.34C>T (p.Pro12Ser)	single nucleotide variant	not provided [RCV002746572]	Chr20:63981279 [GRCh38] Chr20:62612632 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2572A>T (p.Thr858Ser)	single nucleotide variant	not provided [RCV002630618]\|not specified [RCV004652000]	Chr20:64031943 [GRCh38] Chr20:62663296 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.439-19G>A	single nucleotide variant	not provided [RCV002895395]	Chr20:63994897 [GRCh38] Chr20:62626250 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2340-15G>T	single nucleotide variant	not provided [RCV002578298]	Chr20:64028463 [GRCh38] Chr20:62659816 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1302G>C (p.Val434=)	single nucleotide variant	not provided [RCV002715267]	Chr20:64010315 [GRCh38] Chr20:62641668 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2059G>A (p.Val687Met)	single nucleotide variant	not provided [RCV002715381]	Chr20:64027012 [GRCh38] Chr20:62658365 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1524+13C>T	single nucleotide variant	not provided [RCV003030573]	Chr20:64011516 [GRCh38] Chr20:62642869 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.359+7G>T	single nucleotide variant	not provided [RCV003089837]	Chr20:63985032 [GRCh38] Chr20:62616385 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.701G>C (p.Gly234Ala)	single nucleotide variant	not provided [RCV002600928]	Chr20:63995412 [GRCh38] Chr20:62626765 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1186+16A>G	single nucleotide variant	not provided [RCV002649973]	Chr20:64001255 [GRCh38] Chr20:62632608 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1024-3_1024-2del	microsatellite	not provided [RCV002811140]	Chr20:64001072..64001073 [GRCh38] Chr20:62632425..62632426 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1743G>A (p.Ala581=)	single nucleotide variant	not provided [RCV002938302]	Chr20:64022852 [GRCh38] Chr20:62654205 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2082C>G (p.Ala694=)	single nucleotide variant	not provided [RCV002857599]	Chr20:64027035 [GRCh38] Chr20:62658388 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.587_595del (p.Asn196_Ser199delinsThr)	deletion	not provided [RCV003028957]	Chr20:63995064..63995072 [GRCh38] Chr20:62626417..62626425 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1185A>G (p.Lys395=)	single nucleotide variant	not provided [RCV002671615]	Chr20:64001238 [GRCh38] Chr20:62632591 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2340-5C>T	single nucleotide variant	not provided [RCV002962631]	Chr20:64028473 [GRCh38] Chr20:62659826 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.598G>C (p.Val200Leu)	single nucleotide variant	not provided [RCV002627530]	Chr20:63995075 [GRCh38] Chr20:62626428 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1236G>A (p.Glu412=)	single nucleotide variant	not provided [RCV002632072]	Chr20:64010249 [GRCh38] Chr20:62641602 [GRCh37] Chr20:20q13.33	benign
NM_012469.4(PRPF6):c.1769+12G>A	single nucleotide variant	not provided [RCV003026727]	Chr20:64022890 [GRCh38] Chr20:62654243 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.524G>A (p.Arg175His)	single nucleotide variant	not provided [RCV002577022]	Chr20:63995001 [GRCh38] Chr20:62626354 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.66C>T (p.Gly22=)	single nucleotide variant	not provided [RCV002584465]	Chr20:63981311 [GRCh38] Chr20:62612664 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2656C>T (p.Leu886=)	single nucleotide variant	not provided [RCV002725861]	Chr20:64032027 [GRCh38] Chr20:62663380 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2431+36_2431+57dup	duplication	not provided [RCV002722092]	Chr20:64028584..64028585 [GRCh38] Chr20:62659937..62659938 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2705A>G (p.Glu902Gly)	single nucleotide variant	not provided [RCV002943479]	Chr20:64032872 [GRCh38] Chr20:62664225 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.21G>C (p.Pro7=)	single nucleotide variant	not provided [RCV002721720]	Chr20:63981266 [GRCh38] Chr20:62612619 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2546+11C>T	single nucleotide variant	not provided [RCV002635656]	Chr20:64029502 [GRCh38] Chr20:62660855 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1186+9C>T	single nucleotide variant	not provided [RCV002635107]	Chr20:64001248 [GRCh38] Chr20:62632601 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.626G>T (p.Gly209Val)	single nucleotide variant	not provided [RCV002657816]	Chr20:63995337 [GRCh38] Chr20:62626690 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2154C>G (p.Ile718Met)	single nucleotide variant	not provided [RCV002604854]	Chr20:64027107 [GRCh38] Chr20:62658460 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1770-15C>T	single nucleotide variant	not provided [RCV002721664]	Chr20:64024540 [GRCh38] Chr20:62655893 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.405C>G (p.Arg135=)	single nucleotide variant	not provided [RCV002605717]	Chr20:63993452 [GRCh38] Chr20:62624805 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1332dup (p.Thr445fs)	duplication	not provided [RCV002582577]	Chr20:64011310..64011311 [GRCh38] Chr20:62642663..62642664 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2637C>A (p.Ala879=)	single nucleotide variant	not provided [RCV002634817]	Chr20:64032008 [GRCh38] Chr20:62663361 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.615+12A>G	single nucleotide variant	not provided [RCV002604672]	Chr20:63995104 [GRCh38] Chr20:62626457 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.754G>A (p.Asp252Asn)	single nucleotide variant	not provided [RCV002654435]	Chr20:63995465 [GRCh38] Chr20:62626818 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2340-18G>A	single nucleotide variant	not provided [RCV002609720]	Chr20:64028460 [GRCh38] Chr20:62659813 [GRCh37] Chr20:20q13.33	likely benign\|uncertain significance
NM_012469.4(PRPF6):c.2172G>T (p.Met724Ile)	single nucleotide variant	not specified [RCV004276912]	Chr20:64027125 [GRCh38] Chr20:62658478 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.481C>G (p.Pro161Ala)	single nucleotide variant	not specified [RCV004317028]	Chr20:63994958 [GRCh38] Chr20:62626311 [GRCh37] Chr20:20q13.33	uncertain significance
GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	copy number gain	See cases [RCV003329549]	Chr20:52773668..62965020 [GRCh37] Chr20:20q13.2-13.33	uncertain significance
NM_012469.4(PRPF6):c.1019C>T (p.Pro340Leu)	single nucleotide variant	not specified [RCV004363354]	Chr20:63999755 [GRCh38] Chr20:62631108 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1180C>T (p.Arg394Trp)	single nucleotide variant	not provided [RCV003825929]	Chr20:64001233 [GRCh38] Chr20:62632586 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2206T>C (p.Leu736=)	single nucleotide variant	not provided [RCV003570492]	Chr20:64027603 [GRCh38] Chr20:62658956 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2547-6G>A	single nucleotide variant	not provided [RCV003543200]	Chr20:64031912 [GRCh38] Chr20:62663265 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.439-10A>T	single nucleotide variant	not provided [RCV003570710]	Chr20:63994906 [GRCh38] Chr20:62626259 [GRCh37] Chr20:20q13.33	likely benign
GRCh37/hg19 20q13.33(chr20:61986902-62690224)x3	copy number gain	not provided [RCV003485217]	Chr20:61986902..62690224 [GRCh37] Chr20:20q13.33	uncertain significance
GRCh37/hg19 20q13.33(chr20:62347562-62915555)x1	copy number loss	not provided [RCV003483370]	Chr20:62347562..62915555 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1306-12C>G	single nucleotide variant	not provided [RCV003695980]	Chr20:64011273 [GRCh38] Chr20:62642626 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.867-7C>G	single nucleotide variant	not provided [RCV003662237]	Chr20:63999596 [GRCh38] Chr20:62630949 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.188A>C (p.Asn63Thr)	single nucleotide variant	not provided [RCV003690082]	Chr20:63983163 [GRCh38] Chr20:62614516 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2673+13G>A	single nucleotide variant	not provided [RCV003829558]	Chr20:64032057 [GRCh38] Chr20:62663410 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1459A>G (p.Ile487Val)	single nucleotide variant	not provided [RCV003574020]	Chr20:64011438 [GRCh38] Chr20:62642791 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2431+13C>T	single nucleotide variant	not provided [RCV003825379]	Chr20:64028582 [GRCh38] Chr20:62659935 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2187G>A (p.Arg729=)	single nucleotide variant	not provided [RCV003690475]	Chr20:64027140 [GRCh38] Chr20:62658493 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2550G>A (p.Leu850=)	single nucleotide variant	not provided [RCV003831125]	Chr20:64031921 [GRCh38] Chr20:62663274 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.774G>A (p.Val258=)	single nucleotide variant	not provided [RCV003577635]	Chr20:63999047 [GRCh38] Chr20:62630400 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1647+9G>C	single nucleotide variant	not provided [RCV003715790]	Chr20:64016854 [GRCh38] Chr20:62648207 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1476C>T (p.Thr492=)	single nucleotide variant	not provided [RCV003713433]	Chr20:64011455 [GRCh38] Chr20:62642808 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2679G>A (p.Gln893=)	single nucleotide variant	not provided [RCV003828217]	Chr20:64032846 [GRCh38] Chr20:62664199 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1024-6T>G	single nucleotide variant	not provided [RCV003688466]	Chr20:64001071 [GRCh38] Chr20:62632424 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2546+7G>A	single nucleotide variant	not provided [RCV003692202]	Chr20:64029498 [GRCh38] Chr20:62660851 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1306-15G>A	single nucleotide variant	not provided [RCV003851134]	Chr20:64011270 [GRCh38] Chr20:62642623 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2353C>T (p.Arg785Trp)	single nucleotide variant	not provided [RCV003717031]	Chr20:64028491 [GRCh38] Chr20:62659844 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1818del (p.Ala607fs)	deletion	not provided [RCV003549265]	Chr20:64024601 [GRCh38] Chr20:62655954 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.580G>A (p.Gly194Arg)	single nucleotide variant	not provided [RCV003832158]	Chr20:63995057 [GRCh38] Chr20:62626410 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2646C>T (p.Tyr882=)	single nucleotide variant	not provided [RCV003666372]	Chr20:64032017 [GRCh38] Chr20:62663370 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1135_1136delinsAG (p.Ala379Ser)	indel	not provided [RCV003703010]	Chr20:64001188..64001189 [GRCh38] Chr20:62632541..62632542 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2776A>T (p.Ile926Phe)	single nucleotide variant	not provided [RCV003836013]	Chr20:64032943 [GRCh38] Chr20:62664296 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1305+17C>T	single nucleotide variant	not provided [RCV003816408]	Chr20:64010335 [GRCh38] Chr20:62641688 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1216T>C (p.Leu406=)	single nucleotide variant	not provided [RCV003668818]	Chr20:64010229 [GRCh38] Chr20:62641582 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2340-6C>T	single nucleotide variant	not provided [RCV003673323]	Chr20:64028472 [GRCh38] Chr20:62659825 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2491G>A (p.Val831Met)	single nucleotide variant	Retinal dystrophy [RCV003889349]\|not provided [RCV003834390]	Chr20:64029436 [GRCh38] Chr20:62660789 [GRCh37] Chr20:20q13.33	benign\|uncertain significance
NM_012469.4(PRPF6):c.1985G>A (p.Arg662Gln)	single nucleotide variant	not provided [RCV003673996]	Chr20:64026015 [GRCh38] Chr20:62657368 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2028+4C>T	single nucleotide variant	not provided [RCV003673824]	Chr20:64026062 [GRCh38] Chr20:62657415 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1138G>A (p.Ala380Thr)	single nucleotide variant	not provided [RCV003811672]	Chr20:64001191 [GRCh38] Chr20:62632544 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2483C>A (p.Thr828Asn)	single nucleotide variant	not provided [RCV003854346]	Chr20:64029428 [GRCh38] Chr20:62660781 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2772G>T (p.Lys924Asn)	single nucleotide variant	not provided [RCV003812134]	Chr20:64032939 [GRCh38] Chr20:62664292 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1306-20C>G	single nucleotide variant	not provided [RCV003549574]	Chr20:64011265 [GRCh38] Chr20:62642618 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2218C>G (p.Pro740Ala)	single nucleotide variant	not provided [RCV003671845]	Chr20:64027615 [GRCh38] Chr20:62658968 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.681G>A (p.Thr227=)	single nucleotide variant	not provided [RCV003814792]	Chr20:63995392 [GRCh38] Chr20:62626745 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1759C>T (p.His587Tyr)	single nucleotide variant	not provided [RCV003666543]	Chr20:64022868 [GRCh38] Chr20:62654221 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2339+13G>T	single nucleotide variant	not provided [RCV003848237]	Chr20:64027749 [GRCh38] Chr20:62659102 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2094C>T (p.Cys698=)	single nucleotide variant	not provided [RCV003859923]	Chr20:64027047 [GRCh38] Chr20:62658400 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2129A>G (p.Lys710Arg)	single nucleotide variant	not provided [RCV003553528]	Chr20:64027082 [GRCh38] Chr20:62658435 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1769+1G>A	single nucleotide variant	not provided [RCV003683072]	Chr20:64022879 [GRCh38] Chr20:62654232 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.589C>G (p.His197Asp)	single nucleotide variant	not provided [RCV003708127]	Chr20:63995066 [GRCh38] Chr20:62626419 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2079A>C (p.Ala693=)	single nucleotide variant	not provided [RCV003711569]	Chr20:64027032 [GRCh38] Chr20:62658385 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1305+12G>A	single nucleotide variant	not provided [RCV003822986]	Chr20:64010330 [GRCh38] Chr20:62641683 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2298G>A (p.Leu766=)	single nucleotide variant	not provided [RCV003719171]	Chr20:64027695 [GRCh38] Chr20:62659048 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1023+17G>T	single nucleotide variant	not provided [RCV003685135]	Chr20:63999776 [GRCh38] Chr20:62631129 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2431+9G>A	single nucleotide variant	not provided [RCV003861027]	Chr20:64028578 [GRCh38] Chr20:62659931 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2644T>C (p.Tyr882His)	single nucleotide variant	not provided [RCV003685679]	Chr20:64032015 [GRCh38] Chr20:62663368 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2546+11C>A	single nucleotide variant	not provided [RCV003712074]	Chr20:64029502 [GRCh38] Chr20:62660855 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1647+15G>A	single nucleotide variant	not provided [RCV003823334]	Chr20:64016860 [GRCh38] Chr20:62648213 [GRCh37] Chr20:20q13.33	benign
GRCh37/hg19 20q13.33(chr20:62622315-62672032)x3	copy number gain	not specified [RCV003986145]	Chr20:62622315..62672032 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2781G>C (p.Gly927=)	single nucleotide variant	not provided [RCV003675177]	Chr20:64032948 [GRCh38] Chr20:62664301 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1186+10C>G	single nucleotide variant	not provided [RCV003563003]	Chr20:64001249 [GRCh38] Chr20:62632602 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.583G>A (p.Glu195Lys)	single nucleotide variant	not provided [RCV003868084]	Chr20:63995060 [GRCh38] Chr20:62626413 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2563C>T (p.Arg855Trp)	single nucleotide variant	not provided [RCV003734691]	Chr20:64031934 [GRCh38] Chr20:62663287 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1579C>T (p.Arg527Cys)	single nucleotide variant	not provided [RCV003869020]	Chr20:64016777 [GRCh38] Chr20:62648130 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1348C>T (p.Arg450Cys)	single nucleotide variant	not provided [RCV003683823]	Chr20:64011327 [GRCh38] Chr20:62642680 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2112C>G (p.His704Gln)	single nucleotide variant	not provided [RCV003683847]	Chr20:64027065 [GRCh38] Chr20:62658418 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1682C>T (p.Ala561Val)	single nucleotide variant	not provided [RCV003565965]	Chr20:64022791 [GRCh38] Chr20:62654144 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.996C>T (p.Ile332=)	single nucleotide variant	not provided [RCV003568193]	Chr20:63999732 [GRCh38] Chr20:62631085 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1524+2_1524+4del	deletion	not provided [RCV003677208]	Chr20:64011503..64011505 [GRCh38] Chr20:62642856..62642858 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.674G>A (p.Gly225Glu)	single nucleotide variant	not provided [RCV003680703]	Chr20:63995385 [GRCh38] Chr20:62626738 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1524+20C>T	single nucleotide variant	not provided [RCV003861962]	Chr20:64011523 [GRCh38] Chr20:62642876 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.491G>A (p.Gly164Asp)	single nucleotide variant	not provided [RCV003568799]	Chr20:63994968 [GRCh38] Chr20:62626321 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.906G>A (p.Arg302=)	single nucleotide variant	not provided [RCV003711252]	Chr20:63999642 [GRCh38] Chr20:62630995 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2565G>A (p.Arg855=)	single nucleotide variant	not provided [RCV003710435]	Chr20:64031936 [GRCh38] Chr20:62663289 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.71+15G>C	single nucleotide variant	not provided [RCV003682763]	Chr20:63981331 [GRCh38] Chr20:62612684 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.838A>G (p.Met280Val)	single nucleotide variant	not provided [RCV003712232]	Chr20:63999111 [GRCh38] Chr20:62630464 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2399T>C (p.Met800Thr)	single nucleotide variant	not provided [RCV003860989]	Chr20:64028537 [GRCh38] Chr20:62659890 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.854G>A (p.Gly285Glu)	single nucleotide variant	not provided [RCV003677390]	Chr20:63999127 [GRCh38] Chr20:62630480 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2340-19C>T	single nucleotide variant	not provided [RCV003845592]	Chr20:64028459 [GRCh38] Chr20:62659812 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.543T>C (p.Pro181=)	single nucleotide variant	not provided [RCV003846860]	Chr20:63995020 [GRCh38] Chr20:62626373 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.267C>T (p.Phe89=)	single nucleotide variant	not provided [RCV003554984]	Chr20:63984933 [GRCh38] Chr20:62616286 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1368G>C (p.Ala456=)	single nucleotide variant	Retinal dystrophy [RCV003890423]	Chr20:64011347 [GRCh38] Chr20:62642700 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1337A>G (p.Tyr446Cys)	single nucleotide variant	Retinal dystrophy [RCV003890422]	Chr20:64011316 [GRCh38] Chr20:62642669 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2282G>A (p.Arg761Gln)	single nucleotide variant	Retinal dystrophy [RCV003890428]	Chr20:64027679 [GRCh38] Chr20:62659032 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1842C>A (p.Gly614=)	single nucleotide variant	Retinal dystrophy [RCV003890426]	Chr20:64024627 [GRCh38] Chr20:62655980 [GRCh37] Chr20:20q13.33	benign
NM_012469.4(PRPF6):c.538A>C (p.Thr180Pro)	single nucleotide variant	Retinal dystrophy [RCV003890419]	Chr20:63995015 [GRCh38] Chr20:62626368 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1376A>G (p.Asn459Ser)	single nucleotide variant	PRPF6-related disorder [RCV003903834]	Chr20:64011355 [GRCh38] Chr20:62642708 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.132G>A (p.Val44=)	single nucleotide variant	Retinal dystrophy [RCV003890417]	Chr20:63983107 [GRCh38] Chr20:62614460 [GRCh37] Chr20:20q13.33	benign
NM_012469.4(PRPF6):c.2639TCT[1] (p.Phe881del)	microsatellite	Retinal dystrophy [RCV003890430]	Chr20:64032008..64032010 [GRCh38] Chr20:62663361..62663363 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.1656C>G (p.Ala552=)	single nucleotide variant	Retinal dystrophy [RCV003890425]	Chr20:64022765 [GRCh38] Chr20:62654118 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1629G>A (p.Trp543Ter)	single nucleotide variant	Retinal dystrophy [RCV003890424]	Chr20:64016827 [GRCh38] Chr20:62648180 [GRCh37] Chr20:20q13.33	likely pathogenic
NM_012469.4(PRPF6):c.1159C>T (p.Arg387Cys)	single nucleotide variant	Retinal dystrophy [RCV003890421]	Chr20:64001212 [GRCh38] Chr20:62632565 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1181G>A (p.Arg394Gln)	single nucleotide variant	not provided [RCV003887504]	Chr20:64001234 [GRCh38] Chr20:62632587 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.438+7C>T	single nucleotide variant	PRPF6-related disorder [RCV003901890]	Chr20:63993492 [GRCh38] Chr20:62624845 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.2185C>A (p.Arg729=)	single nucleotide variant	Retinal dystrophy [RCV003890427]	Chr20:64027138 [GRCh38] Chr20:62658491 [GRCh37] Chr20:20q13.33	likely benign
NM_012469.4(PRPF6):c.614C>G (p.Thr205Ser)	single nucleotide variant	Retinal dystrophy [RCV003890420]	Chr20:63995091 [GRCh38] Chr20:62626444 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.850C>T (p.His284Tyr)	single nucleotide variant	not specified [RCV004507566]	Chr20:63999123 [GRCh38] Chr20:62630476 [GRCh37] Chr20:20q13.33	uncertain significance
GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	copy number gain	20q13.13qter duplication [RCV004555205]	Chr20:50805746..64334135 [GRCh38] Chr20:20q13.13-13.33	pathogenic
NM_012469.4(PRPF6):c.1369C>T (p.Arg457Trp)	single nucleotide variant	not specified [RCV004507562]	Chr20:64011348 [GRCh38] Chr20:62642701 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1580G>A (p.Arg527His)	single nucleotide variant	not specified [RCV004507563]	Chr20:64016778 [GRCh38] Chr20:62648131 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2321C>T (p.Pro774Leu)	single nucleotide variant	not specified [RCV004507564]	Chr20:64027718 [GRCh38] Chr20:62659071 [GRCh37] Chr20:20q13.33	uncertain significance
NC_000020.10:g.(?_61990880)_(62680869_?)del	deletion	Autosomal dominant nocturnal frontal lobe epilepsy [RCV004579490]	Chr20:61990880..62680869 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2690T>C (p.Val897Ala)	single nucleotide variant	not specified [RCV004660387]	Chr20:64032857 [GRCh38] Chr20:62664210 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.1518G>C (p.Trp506Cys)	single nucleotide variant	not provided [RCV004767856]	Chr20:64011497 [GRCh38] Chr20:62642850 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.166G>A (p.Val56Ile)	single nucleotide variant	not specified [RCV004848804]	Chr20:63983141 [GRCh38] Chr20:62614494 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.364C>A (p.Gln122Lys)	single nucleotide variant	not specified [RCV004848805]	Chr20:63993411 [GRCh38] Chr20:62624764 [GRCh37] Chr20:20q13.33	uncertain significance
NM_012469.4(PRPF6):c.2024C>T (p.Ala675Val)	single nucleotide variant	not specified [RCV004848806]	Chr20:64026054 [GRCh38] Chr20:62657407 [GRCh37] Chr20:20q13.33	uncertain significance

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	662
Count of miRNA genes:	321
Interacting mature miRNAs:	338
Transcripts:	ENST00000266079, ENST00000535781
Prediction methods:	Miranda, Rnahybrid
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
2292864	PRSTS43_H	Prostate tumor susceptibility QTL 43 (human)	0.62	0.05	Prostate tumor susceptibility		20	47303039	64444167	Human
597071073	GWAS1167147_H	body mass index QTL GWAS1167147 (human)		0.000002	body mass index	body mass index (BMI) (CMO:0000105)	20	64001884	64001885	Human

Markers in Region

RH79731

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	20	q13.33	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2253	4974	1726	2351	6	624	1951	465	2270	7306	6472	53	3734	1	852	1744	1617	175	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_029719	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_012469	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_006723769	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054323309	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_007067448	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_008485248	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB019219	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF026031	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF221842	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK001554	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK225993	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK314310	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL118506	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL137320	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL355803	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL356790	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC001666	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI562505	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BP366197	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471077	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068258	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CQ834642	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000266079 ⟹ ENSP00000266079

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	20	63,981,132 - 64,033,100 (+)	Ensembl

RefSeq Acc Id:

NM_012469 ⟹ NP_036601

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	63,981,132 - 64,033,100 (+)	NCBI
GRCh37	20	62,612,417 - 62,664,453 (+)	NCBI
Build 36	20	62,082,875 - 62,134,897 (+)	NCBI Archive
HuRef	20	59,347,184 - 59,398,551 (+)	ENTREZGENE
CHM1_1	20	62,513,489 - 62,564,783 (+)	NCBI
T2T-CHM13v2.0	20	65,800,894 - 65,853,046 (+)	NCBI

Sequence:

show sequence

GACGGCGACACTTTGCTACGGAGTGCATCGGACGTCGAAGCCTAGAGTCTCTGCGTCTTTCCCT
CTTCCGCTGCCTCATTCCTTTCCTTCCTAGCCTTGGTCGTCGCCGCCACCATGAACAAGAAGAA
GAAACCGTTCCTAGGGATGCCCGCGCCCCTCGGCTACGTGCCGGGGCTGGGCCGGGGCGCCACT
GGCTTCACCACGCGGTCAGACATTGGGCCCGCCCGTGATGCAAATGACCCTGTGGATGATCGCC
ATGCACCCCCAGGCAAGAGAACCGTTGGGGACCAGATGAAGAAAAATCAGGCTGCTGACGATGA
CGACGAGGATCTAAATGACACCAATTACGATGAGTTTAATGGCTATGCTGGGAGCCTCTTCTCA
AGTGGACCCTACGAGAAAGATGATGAGGAAGCAGATGCTATCTATGCAGCCCTGGATAAAAGGA
TGGATGAAAGAAGAAAAGAAAGACGGGAGCAAAGGGAGAAAGAAGAAATAGAGAAATATCGTAT
GGAACGCCCCAAAATCCAACAGCAGTTCTCAGACCTCAAGAGGAAGTTGGCAGAAGTCACAGAA
GAAGAGTGGCTGAGCATCCCCGAGGTTGGCGATGCCAGAAATAAACGTCAGCGGAACCCACGCT
ATGAGAAGCTGACCCCTGTTCCTGACAGTTTCTTTGCCAAACATTTACAGACCGGAGAGAACCA
TACCTCAGTGGATCCCCGACAAACTCAATTTGGAGGTCTTAACACACCCTATCCAGGTGGACTA
AACACTCCATACCCAGGTGGAATGACGCCAGGACTGATGACACCTGGCACAGGTGAGCTGGACA
TGAGGAAGATTGGCCAAGCGAGGAACACTCTGATGGACATGAGGCTGAGCCAGGTGTCTGACTC
CGTGAGTGGACAGACCGTCGTTGACCCCAAAGGCTACCTGACGGATTTAAATTCCATGATCCCG
ACACACGGAGGAGACATCAATGATATCAAGAAGGCGCGACTGCTCCTCAAGTCTGTTCGGGAGA
CGAACCCTCATCACCCGCCAGCCTGGATTGCATCAGCCCGCCTGGAAGAAGTCACTGGGAAGCT
ACAAGTAGCTCGGAACCTTATCATGAAGGGGACGGAGATGTGCCCCAAGAGTGAAGATGTCTGG
CTGGAAGCAGCCAGGTTGCAGCCTGGGGACACAGCCAAGGCCGTGGTAGCCCAAGCTGTCCGTC
ATCTCCCACAGTCTGTCAGGATTTACATCAGAGCCGCAGAGCTGGAAACGGACATTCGTGCAAA
GAAGCGGGTTCTTCGGAAAGCCCTCGAGCATGTTCCAAACTCGGTTCGCTTGTGGAAAGCAGCC
GTTGAGCTGGAAGAACCTGAAGATGCTAGAATCATGCTGAGCCGAGCTGTGGAGTGCTGCCCCA
CCAGCGTGGAGCTCTGGCTTGCTCTGGCAAGGCTGGAGACCTATGAAAATGCCCGCAAGGTCTT
GAACAAGGCGCGGGAGAACATTCCTACAGACCGACATATCTGGATCACGGCTGCTAAGCTGGAG
GAAGCCAATGGGAACACGCAGATGGTGGAGAAGATCATCGACCGAGCCATCACCTCGCTGCGGG
CCAACGGTGTGGAGATCAACCGTGAGCAGTGGATCCAGGATGCCGAGGAATGTGACAGGGCTGG
GAGTGTGGCCACCTGCCAGGCCGTCATGCGTGCCGTGATTGGGATTGGGATTGAGGAGGAAGAT
CGGAAGCATACCTGGATGGAGGATGCTGACAGTTGTGTAGCCCACAATGCCCTGGAGTGTGCAC
GAGCCATCTACGCCTACGCCCTGCAGGTGTTCCCCAGCAAGAAGAGTGTGTGGCTGCGCGCCGC
GTACTTCGAGAAGAACCATGGCACTCGGGAGTCCCTGGAAGCACTCCTGCAGAGGGCTGTGGCC
CACTGCCCCAAAGCAGAGGTGCTGTGGCTCATGGGCGCCAAGTCCAAGTGGCTGGCAGGGGATG
TGCCTGCAGCAAGGAGCATCCTGGCCCTGGCCTTCCAGGCCAACCCCAACAGTGAGGAGATCTG
GCTGGCAGCCGTGAAGCTGGAGTCCGAGAATGATGAGTACGAGCGGGCCCGGAGGCTGCTGGCC
AAGGCGCGGAGCAGTGCCCCCACCGCCCGGGTGTTCATGAAGTCTGTGAAGCTGGAGTGGGTGC
AAGACAACATCAGGGCAGCCCAAGATCTGTGCGAGGAGGCCCTGCGGCACTATGAGGACTTCCC
CAAGCTGTGGATGATGAAGGGGCAGATCGAGGAGCAGAAGGAGATGATGGAGAAGGCGCGGGAA
GCCTATAACCAGGGGTTGAAGAAGTGTCCCCACTCCACACCCCTGTGGCTTTTGCTCTCTCGGC
TGGAGGAGAAGATTGGGCAGCTTACTCGAGCACGGGCCATTTTGGAAAAGTCTCGTCTGAAGAA
CCCAAAGAACCCTGGGCTGTGGTTGGAGTCCGTGCGGCTGGAGTACCGTGCGGGGCTGAAGAAC
ATCGCAAATACACTCATGGCCAAGGCGCTGCAGGAGTGCCCCAACTCCGGTATCCTGTGGTCTG
AGGCCATCTTCCTCGAGGCAAGGCCCCAGAGGAGGACCAAGAGCGTGGATGCCCTGAAGAAGTG
TGAGCATGACCCCCATGTGCTCCTGGCCGTGGCCAAGCTGTTTTGGAGTCAGCGGAAGATCACC
AAGGCCAGGGAGTGGTTCCACCGCACTGTGAAGATTGACTCGGACCTGGGGGATGCCTGGGCCT
TCTTCTACAAGTTTGAGCTGCAGCATGGCACTGAGGAGCAGCAGGAGGAGGTGAGGAAGCGCTG
TGAGAGTGCAGAGCCTCGGCATGGGGAGCTGTGGTGCGCCGTGTCCAAGGACATCGCCAACTGG
CAGAAGAAGATCGGGGACATCCTTAGGCTGGTGGCCGGCCGCATCAAGAACACCTTCTGATTGA
GCGGTTGCCATGGCCGGTCTCCGTGGGGCAGGGTTGGGCCGCATGTGGAAGGGCTCTGAGCTGT
GTCCTCCTTCATTAAAAGTTTTTATGTCTCGTGTCAGAA

hide sequence

RefSeq Acc Id:

XM_006723769 ⟹ XP_006723832

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	63,981,132 - 64,033,100 (+)	NCBI

Sequence:

show sequence

ACTTTGCTACGGAGTGCATCGGACGTCGAAGCCTAGAGTCTCTGCGTCTTTCCCTCTTCCGCTG
CCTCATTCCTTTCCTTCCTAGCCTTGGTCGTCGCCGCCACCATGAACAAGAAGAAGAAACCGTT
CCTAGGGATGCCCGCGCCCCTCGGCTACGTGCCGGGGCTGGGCCGGGGCGCCACTGGCTTCACC
ACGCGGTCAGACATTGGGCCCGCCCGTGATGCAAATGACCCTGTGGATGATCGCCATGCACCCC
CAGGCAAGAGAACCGTTGGGGACCAGATGAAGAAAAATCAGGCTGCTGACGATGACGACGAGGA
TCTAAATGACACCAATTACGATGAGTTTAATGGCTATGCTGGGAGCCTCTTCTCAAGTGGACCC
TACGAGAAAGATGATGAGGAAGCAGATGCTATCTATGCAGCCCTGGATAAAAGGATGGATGAAA
GAAGAAAAGAAAGACGGGAGCAAAGGGAGAAAGAAGAAATAGAGAAATATCGTATGGAACGCCC
CAAAATCCAACAGCAGTTCTCAGACCTCAAGAGGAAGTTGGCAGAAGTCACAGAAGAAGAGTGG
CTGAGCATCCCCGAGGTTGGCGATGCCAGAAATAAACGTCAGCGGAACCCACGCTATGAGAAGC
TGACCCCTGTTCCTGACAGTTTCTTTGCCAAACATTTACAGACCGGAGAGAACCATACCTCAGT
GGATCCCCGACAAACTCAATTTGGAGGTCTTAACACACCCTATCCAGGTGGACTAAACACTCCA
TACCCAGGTGGAATGACGCCAGGACTGATGACACCTGGCACAGGTGAGCTGGACATGAGGAAGA
TTGGCCAAGCGAGGAACACTCTGATGGACATGAGGCTGAGCCAGGTGTCTGACTCCGTGAGTGG
ACAGACCGTCGTTGACCCCAAAGGCTACCTGACGGATTTAAATTCCATGATCCCGACACACGGA
GGAGACATCAATGATATCAAGAAGGCGCGACTGCTCCTCAAGTCTGTTCGGGAGACGAACCCTC
ATCACCCGCCAGCCTGGATTGCATCAGCCCGCCTGGAAGAAGTCACTGGGAAGCTACAAGTAGC
TCGGAACCTTATCATGAAGGGGACGGAGATGTGCCCCAAGAGTGAAGATGTCTGGCTGGAAGCA
GCCAGGTTGCAGCCTGGGGACACAGCCAAGGCCGTGGTAGCCCAAGCTGTCCGTCATCTCCCAC
AGTCTGTCAGGATTTACATCAGAGCCGCAGAGCTGGAAACGGACATTCGTGCAAAGAAGCGGGT
TCTTCGGAAAGCCCTCGAGCATGTTCCAAACTCGGTTCGCTTGTGGAAAGCAGCCGTTGAGCTG
GAAGAACCTGAAGATGCTAGAATCATGCTGAGCCGAGCTGTGGAGTGCTGCCCCACCAGCGTGG
AGGATGCCGAGGAATGTGACAGGGCTGGGAGTGTGGCCACCTGCCAGGCCGTCATGCGTGCCGT
GATTGGGATTGGGATTGAGGAGGAAGATCGGAAGCATACCTGGATGGAGGATGCTGACAGTTGT
GTAGCCCACAATGCCCTGGAGTGTGCACGAGCCATCTACGCCTACGCCCTGCAGGTGTTCCCCA
GCAAGAAGAGTGTGTGGCTGCGCGCCGCGTACTTCGAGAAGAACCATGGCACTCGGGAGTCCCT
GGAAGCACTCCTGCAGAGGGCTGTGGCCCACTGCCCCAAAGCAGAGGTGCTGTGGCTCATGGGC
GCCAAGTCCAAGTGGCTGGCAGGGGATGTGCCTGCAGCAAGGAGCATCCTGGCCCTGGCCTTCC
AGGCCAACCCCAACAGTGAGGAGATCTGGCTGGCAGCCGTGAAGCTGGAGTCCGAGAATGATGA
GTACGAGCGGGCCCGGAGGCTGCTGGCCAAGGCGCGGAGCAGTGCCCCCACCGCCCGGGTGTTC
ATGAAGTCTGTGAAGCTGGAGTGGGTGCAAGACAACATCAGGGCAGCCCAAGATCTGTGCGAGG
AGGCCCTGCGGCACTATGAGGACTTCCCCAAGCTGTGGATGATGAAGGGGCAGATCGAGGAGCA
GAAGGAGATGATGGAGAAGGCGCGGGAAGCCTATAACCAGGGGTTGAAGAAGTGTCCCCACTCC
ACACCCCTGTGGCTTTTGCTCTCTCGGCTGGAGGAGAAGATTGGGCAGCTTACTCGAGCACGGG
CCATTTTGGAAAAGTCTCGTCTGAAGAACCCAAAGAACCCTGGGCTGTGGTTGGAGTCCGTGCG
GCTGGAGTACCGTGCGGGGCTGAAGAACATCGCAAATACACTCATGGCCAAGGCGCTGCAGGAG
TGCCCCAACTCCGGTATCCTGTGGTCTGAGGCCATCTTCCTCGAGGCAAGGCCCCAGAGGAGGA
CCAAGAGCGTGGATGCCCTGAAGAAGTGTGAGCATGACCCCCATGTGCTCCTGGCCGTGGCCAA
GCTGTTTTGGAGTCAGCGGAAGATCACCAAGGCCAGGGAGTGGTTCCACCGCACTGTGAAGATT
GACTCGGACCTGGGGGATGCCTGGGCCTTCTTCTACAAGTTTGAGCTGCAGCATGGCACTGAGG
AGCAGCAGGAGGAGGTGAGGAAGCGCTGTGAGAGTGCAGAGCCTCGGCATGGGGAGCTGTGGTG
CGCCGTGTCCAAGGACATCGCCAACTGGCAGAAGAAGATCGGGGACATCCTTAGGCTGGTGGCC
GGCCGCATCAAGAACACCTTCTGATTGAGCGGTTGCCATGGCCGGTCTCCGTGGGGCAGGGTTG
GGCCGCATGTGGAAGGGCTCTGAGCTGTGTCCTCCTTCATTAAAAGTTTTTATGTCTCGTGTCA
GAA

hide sequence

RefSeq Acc Id:

XM_054323309 ⟹ XP_054179284

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	20	65,800,894 - 65,853,046 (+)	NCBI

RefSeq Acc Id:

XR_007067448

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	63,981,132 - 64,030,808 (+)	NCBI

RefSeq Acc Id:

XR_008485248

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	20	65,800,894 - 65,851,832 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_036601	(Get FASTA)	NCBI Sequence Viewer
	XP_006723832	(Get FASTA)	NCBI Sequence Viewer
	XP_054179284	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAD01798	(Get FASTA)	NCBI Sequence Viewer
	AAF66128	(Get FASTA)	NCBI Sequence Viewer
	AAH01666	(Get FASTA)	NCBI Sequence Viewer
	BAA37140	(Get FASTA)	NCBI Sequence Viewer
	BAG36962	(Get FASTA)	NCBI Sequence Viewer
	BAG50938	(Get FASTA)	NCBI Sequence Viewer
	CAB70695	(Get FASTA)	NCBI Sequence Viewer
	CAH05536	(Get FASTA)	NCBI Sequence Viewer
	EAW75174	(Get FASTA)	NCBI Sequence Viewer
	EAW75175	(Get FASTA)	NCBI Sequence Viewer
	EAW75176	(Get FASTA)	NCBI Sequence Viewer
	EAW75177	(Get FASTA)	NCBI Sequence Viewer
	EAW75178	(Get FASTA)	NCBI Sequence Viewer
	EAW75179	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000266079
	ENSP00000266079.4
GenBank Protein	O94906	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_036601 ⟸ NM_012469

- UniProtKB:

Q9H4U8 (UniProtKB/Swiss-Prot), Q9H4T9 (UniProtKB/Swiss-Prot), Q9H3Z1 (UniProtKB/Swiss-Prot), Q5VXS5 (UniProtKB/Swiss-Prot), O95109 (UniProtKB/Swiss-Prot), B3KMC6 (UniProtKB/Swiss-Prot), B2RAR5 (UniProtKB/Swiss-Prot), Q9NTE6 (UniProtKB/Swiss-Prot), O94906 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MNKKKKPFLGMPAPLGYVPGLGRGATGFTTRSDIGPARDANDPVDDRHAPPGKRTVGDQMKKNQ
AADDDDEDLNDTNYDEFNGYAGSLFSSGPYEKDDEEADAIYAALDKRMDERRKERREQREKEEI
EKYRMERPKIQQQFSDLKRKLAEVTEEEWLSIPEVGDARNKRQRNPRYEKLTPVPDSFFAKHLQ
TGENHTSVDPRQTQFGGLNTPYPGGLNTPYPGGMTPGLMTPGTGELDMRKIGQARNTLMDMRLS
QVSDSVSGQTVVDPKGYLTDLNSMIPTHGGDINDIKKARLLLKSVRETNPHHPPAWIASARLEE
VTGKLQVARNLIMKGTEMCPKSEDVWLEAARLQPGDTAKAVVAQAVRHLPQSVRIYIRAAELET
DIRAKKRVLRKALEHVPNSVRLWKAAVELEEPEDARIMLSRAVECCPTSVELWLALARLETYEN
ARKVLNKARENIPTDRHIWITAAKLEEANGNTQMVEKIIDRAITSLRANGVEINREQWIQDAEE
CDRAGSVATCQAVMRAVIGIGIEEEDRKHTWMEDADSCVAHNALECARAIYAYALQVFPSKKSV
WLRAAYFEKNHGTRESLEALLQRAVAHCPKAEVLWLMGAKSKWLAGDVPAARSILALAFQANPN
SEEIWLAAVKLESENDEYERARRLLAKARSSAPTARVFMKSVKLEWVQDNIRAAQDLCEEALRH
YEDFPKLWMMKGQIEEQKEMMEKAREAYNQGLKKCPHSTPLWLLLSRLEEKIGQLTRARAILEK
SRLKNPKNPGLWLESVRLEYRAGLKNIANTLMAKALQECPNSGILWSEAIFLEARPQRRTKSVD
ALKKCEHDPHVLLAVAKLFWSQRKITKAREWFHRTVKIDSDLGDAWAFFYKFELQHGTEEQQEE
VRKRCESAEPRHGELWCAVSKDIANWQKKIGDILRLVAGRIKNTF

hide sequence

RefSeq Acc Id:

XP_006723832 ⟸ XM_006723769

- Peptide Label:

isoform X1

- Sequence:

show sequence

MNKKKKPFLGMPAPLGYVPGLGRGATGFTTRSDIGPARDANDPVDDRHAPPGKRTVGDQMKKNQ
AADDDDEDLNDTNYDEFNGYAGSLFSSGPYEKDDEEADAIYAALDKRMDERRKERREQREKEEI
EKYRMERPKIQQQFSDLKRKLAEVTEEEWLSIPEVGDARNKRQRNPRYEKLTPVPDSFFAKHLQ
TGENHTSVDPRQTQFGGLNTPYPGGLNTPYPGGMTPGLMTPGTGELDMRKIGQARNTLMDMRLS
QVSDSVSGQTVVDPKGYLTDLNSMIPTHGGDINDIKKARLLLKSVRETNPHHPPAWIASARLEE
VTGKLQVARNLIMKGTEMCPKSEDVWLEAARLQPGDTAKAVVAQAVRHLPQSVRIYIRAAELET
DIRAKKRVLRKALEHVPNSVRLWKAAVELEEPEDARIMLSRAVECCPTSVEDAEECDRAGSVAT
CQAVMRAVIGIGIEEEDRKHTWMEDADSCVAHNALECARAIYAYALQVFPSKKSVWLRAAYFEK
NHGTRESLEALLQRAVAHCPKAEVLWLMGAKSKWLAGDVPAARSILALAFQANPNSEEIWLAAV
KLESENDEYERARRLLAKARSSAPTARVFMKSVKLEWVQDNIRAAQDLCEEALRHYEDFPKLWM
MKGQIEEQKEMMEKAREAYNQGLKKCPHSTPLWLLLSRLEEKIGQLTRARAILEKSRLKNPKNP
GLWLESVRLEYRAGLKNIANTLMAKALQECPNSGILWSEAIFLEARPQRRTKSVDALKKCEHDP
HVLLAVAKLFWSQRKITKAREWFHRTVKIDSDLGDAWAFFYKFELQHGTEEQQEEVRKRCESAE
PRHGELWCAVSKDIANWQKKIGDILRLVAGRIKNTF

hide sequence

Ensembl Acc Id:

ENSP00000266079 ⟸ ENST00000266079

RefSeq Acc Id:	XP_054179284 ⟸ XM_054323309
- Peptide Label:	isoform X1

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-O94906-F1-model_v2	AlphaFold	O94906	1-941	view protein structure

Promoters

RGD ID:

6798914

Promoter ID:

HG_KWN:40233

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

NM_012469, UC002YHP.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	20	62,081,891 - 62,083,037 (+)	MPROMDB

RGD ID:

13602462

Promoter ID:

EPDNEW_H27415

Type:

multiple initiation site

Name:

PRPF6_2

Description:

pre-mRNA processing factor 6

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H27418

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	63,978,945 - 63,979,005	EPDNEW

RGD ID:

13602468

Promoter ID:

EPDNEW_H27418

Type:

initiation region

Name:

PRPF6_1

Description:

pre-mRNA processing factor 6

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H27415

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	20	63,981,132 - 63,981,192	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:15860	AgrOrtholog
COSMIC	PRPF6	COSMIC
Ensembl Genes	ENSG00000101161	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000266079	ENTREZGENE
	ENST00000266079.5	UniProtKB/Swiss-Prot
Gene3D-CATH	1.25.40.10	UniProtKB/Swiss-Prot
GTEx	ENSG00000101161	GTEx
HGNC ID	HGNC:15860	ENTREZGENE
Human Proteome Map	PRPF6	Human Proteome Map
InterPro	HAT	UniProtKB/Swiss-Prot
	PRP1_N	UniProtKB/Swiss-Prot
	Syf1-like	UniProtKB/Swiss-Prot
	TPR-like_helical_dom_sf	UniProtKB/Swiss-Prot
	TPR_repeat	UniProtKB/Swiss-Prot
KEGG Report	hsa:24148	UniProtKB/Swiss-Prot
NCBI Gene	24148	ENTREZGENE
OMIM	613979	OMIM
PANTHER	PTHR11246	UniProtKB/Swiss-Prot
	PTHR11246:SF1	UniProtKB/Swiss-Prot
Pfam	PRP1_N	UniProtKB/Swiss-Prot
	TPR_16	UniProtKB/Swiss-Prot
	TPR_19	UniProtKB/Swiss-Prot
PharmGKB	PA25682	PharmGKB
SMART	HAT	UniProtKB/Swiss-Prot
	TPR	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF48452	UniProtKB/Swiss-Prot
UniProt	B2RAR5	ENTREZGENE
	B3KMC6	ENTREZGENE
	O94906	ENTREZGENE
	O95109	ENTREZGENE
	PRP6_HUMAN	UniProtKB/Swiss-Prot
	Q5VXS5	ENTREZGENE
	Q9H3Z1	ENTREZGENE
	Q9H4T9	ENTREZGENE
	Q9H4U8	ENTREZGENE
	Q9NTE6	ENTREZGENE
UniProt Secondary	B2RAR5	UniProtKB/Swiss-Prot
	B3KMC6	UniProtKB/Swiss-Prot
	O95109	UniProtKB/Swiss-Prot
	Q5VXS5	UniProtKB/Swiss-Prot
	Q9H3Z1	UniProtKB/Swiss-Prot
	Q9H4T9	UniProtKB/Swiss-Prot
	Q9H4U8	UniProtKB/Swiss-Prot
	Q9NTE6	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2013-06-18	PRPF6	pre-mRNA processing factor 6	PRPF6	PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae)	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

Send us a Message

Imported Disease Annotations - ClinVar

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar