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

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Amino Acid Transport Disorders, Inborn (D020157)
Parent Node: Brain Diseases, Metabolic, Inborn (D020739)
Parent Node: Genetic Diseases, Inborn (D030342)
Parent Node: Genetic Diseases, X-Linked (D040181)
Parent Node: Renal Tubular Transport, Inborn Errors (D015499)
..Starting node ..Oculocerebrorenal Syndrome (D009800)
Child Nodes:
........Meier Blumberg Imahorn syndrome (C536148)
Sister Nodes:
..Acidosis, Renal Tubular (D000141) 11
..Azotemia, Familial (C566233)
..Bartter Syndrome (D001477) 8
..Dent Disease (D057973) 1
..Donnai-Barrow syndrome (C536390)
..Fanconi Syndrome (D005198) 3
..Gitelman Syndrome (D053579) 1
..Glycosuria, Renal (D006030) 1
..Hypomagnesemia 2, renal (C537152)
..Hypomagnesemia 4, Renal (C567127)
..Hypomagnesemia 5, Renal, with Ocular Involvement (C565423)
..HYPOMAGNESEMIA 6, RENAL (OMIM:613882)
..Hypomagnesemia primary (C537153)
..Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial (C564024)
..HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION (OMIM:616418)
..Hypophosphatemia, Familial (D007015) 11
..Hypouricemia, Familial Renal, due to Tubular Hypersecretion (C564405)
..Hypouricemia, Hypercalcinuria, and Decreased Bone Density (C565475)
..Hypouricemia, Renal, 2 (C567426)
..Iminoglycinuria (C536285)
..Liddle Syndrome (D056929)
..Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 (C567363)
..Nephrolithiasis-Osteoporosis, Hypophosphatemic, 2 (C567362)
..Oculocerebrorenal Syndrome (D009800) 1
..Pseudohypoaldosteronism (D011546) 4
..Renal Aminoacidurias (D000608) 9 C:2
..Renal hypouricemia (C537757)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

9038

Name:

Oculocerebrorenal Syndrome

Definition:

A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8)

Alternative IDs:

DO:DOID:1056|OMIM:309000

ParentIDs:

TreeNumbers:

C10.228.140.163.100.640 |C12.777.419.815.720 |C13.351.968.419.815.720 |C16.131.077.662 |C16.320.322.750 |C16.320.565.151.600 |C16.320.565.189.640 |C16.320.565.861.750 |C16.320.709 |C18.452.132.100.640 |C18.452.648.151.600 |C18.452.648.189.640 |C18.452.648.861.750

Synonyms:

Slim Mappings:

Reference:

MedGen: D009800
MeSH: D009800
OMIM: 309000;
MSeqDR :
Genes: OCRL;

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0000718	Aggressive behavior
3	HP:0003355	Aminoaciduria
4	HP:0001284	Areflexia
5	HP:0003646	Bicarbonaturia
6	HP:0100490	Camptodactyly of finger
7	HP:0000519	Congenital cataract
8	HP:0002019	Constipation
9	HP:0000028	Cryptorchidism
10	HP:0007948	Dense posterior cortical cataract
11	HP:0004639	Elevated amniotic fluid alpha-fetoprotein
12	HP:0005984	Elevated maternal serum alpha-fetoprotein
13	HP:0003148	Elevated serum acid phosphatase
14	HP:0001508	Failure to thrive
15	HP:0025131	Finger swelling
16	HP:0002857	Genu valgum
17	HP:0000501	Glaucoma
18	HP:0002827	Hip dislocation
19	HP:0003124	Hypercholesterolemia
20	HP:0003109	Hyperphosphaturia
21	HP:0006297	Hypoplasia of dental enamel
22	HP:0001249	Intellectual disability
23	HP:0009473	Joint contracture of the hand
24	HP:0001382	Joint hypermobility
25	HP:0002808	Kyphosis
26	HP:0000568	Microphthalmia
27	HP:0001319	Neonatal hypotonia NAMDC: Floppy baby
28	HP:0002749	Osteomalacia
29	HP:0002756	Pathologic fracture
30	HP:0007109	Periventricular cysts
31	HP:0000926	Platyspondyly
32	HP:0000093	Proteinuria
33	HP:0002049	Proximal renal tubular acidosis
34	HP:0007663	Reduced visual acuity
35	HP:0001994	Renal Fanconi syndrome
36	HP:0000083	Renal insufficiency
37	HP:0002748	Rickets
38	HP:0002650	Scoliosis
39	HP:0001250	Seizures NAMDC: Seizures
40	HP:0004322	Short stature NAMDC: Short stature (patient��s height is below the 3rd percentile)
41	HP:0000733	Stereotypy
42	HP:0001482	Subcutaneous nodule
43	HP:0002119	Ventriculomegaly
44	HP:0000505	Visual impairment
45	HP:0001225	Wrist swelling

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000023.10:g.(?_128674417)_(128724247_?)del	4952	OCRL	Pathogenic	-1	RCV001958773;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128674417	128724247	-1	-
NC_000023.10:g.(?_128674417)_(128696783_?)del	4952	OCRL	Pathogenic	-1	RCV003109331;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128674417	128696783		-
NC_000023.10:g.(?_128674417)_(128674820_?)del	4952	OCRL	Pathogenic	-1	RCV003109332;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128674417	128674820		-
NC_000023.10:g.(?_128674417)_(128975921_?)dup	4952	OCRL	Uncertain significance	-1	RCV003109335;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128674417	128975921		-
NC_000023.10:g.(?_128674417)_(128679034_?)dup	4952	OCRL	Uncertain significance	-1	RCV003110920;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128674417	128679034		-
NM_000276.4(OCRL):c.11C>T (p.Pro4Leu)	4952	OCRL	Likely benign	770815981	RCV002485992\|RCV002570544;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534; MONDO:MONDO:0010359,MedGen:C1845167,OMIM:300555, Orphanet:1652, Orphanet:93623\|MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128674427	128674427	X:g.128674427C>T	-
NM_000276.4(OCRL):c.12G>C (p.Pro4=)	4952	OCRL	Likely benign	-1	RCV003072327;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128674428	128674428		-
NM_000276.4(OCRL):c.15C>G (p.Leu5=)	4952	OCRL	Likely benign	-1	RCV003037211;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128674431	128674431		-
NM_000276.4(OCRL):c.17C>G (p.Pro6Arg)	4952	OCRL	Likely benign	-1	RCV002995870;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128674433	128674433	NC_000023.10:g.128674433C>G	-
NM_000276.4(OCRL):c.39+8C>T	4952	OCRL	Likely benign	1051771435	RCV002198378;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128674463	128674463	128674463	-
NM_000276.4(OCRL):c.39+10G>A	4952	OCRL	Conflicting interpretations of pathogenicity	765141317	RCV000173095\|RCV002054037\|RCV003150965;	N	MedGen:C3661900\|MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MedGen:CN169374	X	128674465	128674465	X:g.128674465G>A	ClinGen:CA238577	CN169374 not specified;
NM_000276.4(OCRL):c.39+15G>C	4952	OCRL	Likely benign	-1	RCV002581618;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128674470	128674470	NC_000023.10:g.128674470G>C	-
NM_000276.4(OCRL):c.39+16A>C	4952	OCRL	Likely benign	1242261409	RCV002200860;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128674471	128674471	128674471	-
NM_000276.4(OCRL):c.39+17A>G	4952	OCRL	Likely benign	-1	RCV003050540;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128674472	128674472	NC_000023.10:g.128674472A>G	-
NM_000276.4(OCRL):c.40-80dup	4952	OCRL	Benign	369736288	RCV000990942\|RCV001615100;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MedGen:CN517202	X	128674631	128674632	X:g.128674631_128674632insG	-
NM_000276.4(OCRL):c.40-5C>T	4952	OCRL	Conflicting interpretations of pathogenicity	201211377	RCV000195233\|RCV000714602\|RCV001701636\|RCV002321776;	N	MedGen:CN169374\|MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MedGen:C3661900\|MedGen:CN580796; MeSH:D030342,MedGen:C0950123	X	128674716	128674716	NC_000023.10:g.128674716C>T	ClinGen:CA209906	CN169374 not specified;
NM_000276.4(OCRL):c.40A>G (p.Thr14Ala)	4952	OCRL	Uncertain significance	371099243	RCV001817561\|RCV002482356\|RCV002542541;	N	MedGen:CN169374\|MONDO:MONDO:0010359,MedGen:C1845167,OMIM:300555, Orphanet:1652, Orphanet:93623; MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128674721	128674721	128674721	-
NM_000276.4(OCRL):c.41C>T (p.Thr14Ile)	4952	OCRL	Benign/Likely benign	61752970	RCV000117867\|RCV000514122\|RCV001083615\|RCV002312201;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MedGen:CN580796; MeSH:D030342,MedGen:C0950123	X	128674722	128674722	X:g.128674722C>T	ClinGen:CA154188	C0028860 309000 Lowe syndrome;
NM_000276.4(OCRL):c.43G>C (p.Val15Leu)	4952	OCRL	Uncertain significance	2071724829	RCV001905635;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128674724	128674724	128674724	-
NM_000276.4(OCRL):c.50G>C (p.Gly17Ala)	4952	OCRL	Conflicting interpretations of pathogenicity	768913997	RCV000502299\|RCV002056860\|RCV002524245;	N	MedGen:CN169374\|MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MeSH:D030342,MedGen:C0950123	X	128674731	128674731	X:g.128674731G>C	ClinGen:CA10511918	CN169374 not specified;
NM_000276.4(OCRL):c.52A>G (p.Met18Val)	4952	OCRL	Likely benign	779021479	RCV001912807;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128674733	128674733	128674733	-
NM_000276.4(OCRL):c.67C>T (p.Pro23Ser)	4952	OCRL	Uncertain significance	-1	RCV002633452;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128674748	128674748	NC_000023.10:g.128674748C>T	-
NM_000276.4(OCRL):c.72C>G (p.Leu24=)	4952	OCRL	Likely benign	772216523	RCV002108068;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128674753	128674753	128674753	-
NM_000276.4(OCRL):c.78G>A (p.Glu26=)	4952	OCRL	Likely benign	-1	RCV002711555;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128674759	128674759		-
NM_000276.4(OCRL):c.92C>T (p.Thr31Ile)	4952	OCRL	Uncertain significance	762676076	RCV001936320\|RCV002491960;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534; MONDO:MONDO:0010359,MedGen:C1845167,OMIM:300555, Orphanet:1652, Orphanet:93623	X	128674773	128674773	128674773	-
NM_000276.4(OCRL):c.105G>A (p.Arg35=)	4952	OCRL	Benign/Likely benign	142321728	RCV002060921\|RCV002313666\|RCV002493276;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MeSH:D030342,MedGen:C0950123; MedGen:CN580796\|MONDO:MONDO:0010359,MedGen:C1845167,OMIM:300555, Orphanet:1652, Orphanet:93623; MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128674786	128674786	NC_000023.10:g.128674786G>A	-
NM_000276.4(OCRL):c.109G>C (p.Gly37Arg)	4952	OCRL	Uncertain significance	767054196	RCV000996015\|RCV002550687;	N	MedGen:C3661900\|MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128674790	128674790	X:g.128674790G>C	-
NM_000276.4(OCRL):c.115T>C (p.Tyr39His)	4952	OCRL	Uncertain significance	756670728	RCV001908450\|RCV002506965;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MONDO:MONDO:0010359,MedGen:C1845167,OMIM:300555, Orphanet:1652, Orphanet:93623; MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128674796	128674796	128674796	-
NM_000276.4(OCRL):c.119+12C>T	4952	OCRL	Likely benign	-1	RCV002583178;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128674812	128674812	NC_000023.10:g.128674812C>T	-
NM_000276.4(OCRL):c.152A>G (p.His51Arg)	4952	OCRL	Benign/Likely benign	764804719	RCV001702160\|RCV001727973\|RCV002503162\|RCV002539703;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010359,MedGen:C1845167,OMIM:300555, Orphanet:1652, Orphanet:93623; MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128678967	128678967	128678967	-
NM_000276.4(OCRL):c.153T>A (p.His51Gln)	4952	OCRL	Uncertain significance	1392543051	RCV001998315;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128678968	128678968	128678968	-
NM_000276.4(OCRL):c.163A>G (p.Ile55Val)	4952	OCRL	Uncertain significance	-1	RCV002914907;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128678978	128678978	NC_000023.10:g.128678978A>G	-
NM_000276.4(OCRL):c.164T>C (p.Ile55Thr)	4952	OCRL	Uncertain significance	1278754966	RCV001923435\|RCV002491889;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MONDO:MONDO:0010359,MedGen:C1845167,OMIM:300555, Orphanet:1652, Orphanet:93623; MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128678979	128678979	128678979	-
NM_000276.4(OCRL):c.179G>A (p.Ser60Asn)	4952	OCRL	Uncertain significance	-1	RCV002791742;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128678994	128678994	NC_000023.10:g.128678994G>A	-
NM_000276.4(OCRL):c.181C>T (p.His61Tyr)	4952	OCRL	Uncertain significance	2124388046	RCV002037331;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128678996	128678996	128678996	-
NM_000276.4(OCRL):c.183C>T (p.His61=)	4952	OCRL	Likely benign	-1	RCV002589379;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128678998	128678998		-
NM_000276.4(OCRL):c.199+16C>G	4952	OCRL	Benign	5977104	RCV000078493\|RCV001514285\|RCV001610353;	N	MedGen:CN169374\|MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MedGen:C3661900	X	128679030	128679030	X:g.128679030C>G	ClinGen:CA145977	CN169374 not specified;
NM_000276.4(OCRL):c.199+20A>G	4952	OCRL	Likely benign	-1	RCV003024398;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128679034	128679034	NC_000023.10:g.128679034A>G	-
NC_000023.10:g.(?_128682520)_(128724247_?)dup	4952	OCRL	Uncertain significance	-1	RCV002015409;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128682520	128724247	-1	-
NM_000276.4(OCRL):c.200-11dup	4952	OCRL	Benign/Likely benign	765652296	RCV002120801\|RCV002500187;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MONDO:MONDO:0010359,MedGen:C1845167,OMIM:300555, Orphanet:1652, Orphanet:93623; MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128682521	128682522	128682521	-
NM_000276.4(OCRL):c.200-4_200-3del	4952	OCRL	Benign	753117153	RCV002112115;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128682533	128682534	128682532	-
NM_000276.4(OCRL):c.200-3del	4952	OCRL	Uncertain significance	-1	RCV002820497;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128682537	128682537	NC_000023.10:g.128682537del	-
NM_000276.4(OCRL):c.235A>G (p.Asn79Asp)	4952	OCRL	Benign	-1	RCV002886339;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128682575	128682575	NC_000023.10:g.128682575A>G	-
NM_000276.4(OCRL):c.238+6T>C	4952	OCRL	Uncertain significance	-1	RCV002617059;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128682584	128682584	NC_000023.10:g.128682584T>C	-
NM_000276.4(OCRL):c.239-4023A>G	4952	OCRL	Pathogenic	1057515577	RCV000408904;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128687279	128687279	NC_000023.10:g.128687279A>G	ClinGen:CA16040625	C0028860 309000 Lowe syndrome;
NM_000276.4(OCRL):c.239-20T>C	4952	OCRL	Benign	376289741	RCV002118461;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128691282	128691282	128691282	-
NM_000276.4(OCRL):c.239-4T>A	4952	OCRL	Likely benign	-1	RCV002675509;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128691298	128691298	NC_000023.10:g.128691298T>A	-
NM_000276.4(OCRL):c.265G>C (p.Asp89His)	4952	OCRL	Likely benign	-1	RCV002625006;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128691328	128691328	NC_000023.10:g.128691328G>C	-
NM_000276.4(OCRL):c.284G>A (p.Arg95His)	4952	OCRL	Benign/Likely benign	770375201	RCV002123103\|RCV002486936;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MONDO:MONDO:0010359,MedGen:C1845167,OMIM:300555, Orphanet:1652, Orphanet:93623; MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128691347	128691347	128691347	-
NM_000276.4(OCRL):c.324C>T (p.Leu108=)	4952	OCRL	Benign	754424104	RCV002527681;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128691387	128691387	X:g.128691387C>T	ClinGen:CA10511994	C0028860 309000 Lowe syndrome;
NM_000276.4(OCRL):c.332T>C (p.Val111Ala)	4952	OCRL	Uncertain significance	2124401168	RCV001974294;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128691395	128691395	128691395	-
NM_000276.4(OCRL):c.350-14C>T	4952	OCRL	Likely benign	2124401607	RCV002076857;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128691824	128691824	128691824	-
NM_000276.4(OCRL):c.350-9TC[2]	4952	OCRL	Likely benign	1936081749	RCV002099130;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128691829	128691830	128691828	-
NM_000276.4(OCRL):c.350-7T>A	4952	OCRL	Uncertain significance	-1	RCV002829886;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128691831	128691831	NC_000023.10:g.128691831T>A	-
NM_000276.4(OCRL):c.350-5T>C	4952	OCRL	Likely benign	200744251	RCV002066341\|RCV002547254;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MeSH:D030342,MedGen:C0950123	X	128691833	128691833	X:g.128691833T>C	-
NM_000276.4(OCRL):c.351T>G (p.Ala117=)	4952	OCRL	Likely benign	764237144	RCV002152572;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128691839	128691839	128691839	-
NM_000276.4(OCRL):c.370C>G (p.Pro124Ala)	4952	OCRL	Uncertain significance	2124401648	RCV001905954;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128691858	128691858	128691858	-
NM_000276.4(OCRL):c.375G>T (p.Glu125Asp)	4952	OCRL	Benign/Likely benign	773022942	RCV000873690\|RCV002318022\|RCV002477661;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MedGen:CN580796; MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010359,MedGen:C1845167,OMIM:300555, Orphanet:1652, Orphanet:93623; MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128691863	128691863	NC_000023.10:g.128691863G>T	-
NM_000276.4(OCRL):c.405A>G (p.Lys135=)	4952	OCRL	Likely benign	-1	RCV003070501;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128691893	128691893		-
NM_000276.4(OCRL):c.428C>T (p.Ser143Phe)	4952	OCRL	Conflicting interpretations of pathogenicity	760751280	RCV001329156\|RCV002329302\|RCV002476540\|RCV002546307;	N	MONDO:MONDO:0010359,MedGen:C1845167,OMIM:300555, Orphanet:1652, Orphanet:93623\|MedGen:CN580796; MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010359,MedGen:C1845167,OMIM:300555, Orphanet:1652, Orphanet:93623; MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000,Orphan	X	128691916	128691916	128691916	-
NM_000276.4(OCRL):c.430G>T (p.Val144Phe)	4952	OCRL	Uncertain significance	1283513096	RCV001898576;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128691918	128691918	128691918	-
NM_000276.4(OCRL):c.437C>T (p.Ser146Leu)	4952	OCRL	Uncertain significance	-1	RCV002811359;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128691925	128691925	NC_000023.10:g.128691925C>T	-
NM_000276.4(OCRL):c.440G>C (p.Gly147Ala)	4952	OCRL	Uncertain significance	2124402286	RCV001947164;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128692610	128692610	128692610	-
NM_000276.4(OCRL):c.441G>A (p.Gly147=)	4952	OCRL	Likely benign	199624352	RCV000909146\|RCV003438577;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MedGen:C3661900	X	128692611	128692611	X:g.128692611G>A	-
NM_000276.4(OCRL):c.471T>G (p.Ser157=)	4952	OCRL	Conflicting interpretations of pathogenicity	747396791	RCV000192545\|RCV002057005\|RCV003436997;	N	MedGen:CN169374\|MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MedGen:C3661900	X	128692641	128692641	NC_000023.10:g.128692641T>G	ClinGen:CA205435	CN169374 not specified;
NM_000276.4(OCRL):c.471T>A (p.Ser157=)	4952	OCRL	Conflicting interpretations of pathogenicity	747396791	RCV000332788\|RCV002518983;	N	MedGen:C3661900\|MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128692641	128692641	X:g.128692641T>A	ClinGen:CA10512038	CN169374 not specified;
NM_000276.4(OCRL):c.481G>A (p.Asp161Asn)	4952	OCRL	Conflicting interpretations of pathogenicity	372298378	RCV001817516\|RCV001869672;	N	MedGen:CN169374\|MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128692651	128692651	128692651	-
NM_000276.4(OCRL):c.560+1G>C	4952	OCRL	Likely pathogenic	1569458883	RCV000701856;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128692731	128692731	NC_000023.10:g.128692731G>C	-	C0028860 309000 Lowe syndrome;
NM_000276.4(OCRL):c.560+19C>T	4952	OCRL	Likely benign	-1	RCV002576416;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128692749	128692749	NC_000023.10:g.128692749C>T	-
NM_000276.4(OCRL):c.560+20A>G	4952	OCRL	Likely benign	767279122	RCV001894540;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128692750	128692750	128692750	-
NM_000276.4(OCRL):c.561-13A>G	4952	OCRL	Likely benign	773509037	RCV002120386;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128692804	128692804	128692804	-
NM_000276.4(OCRL):c.561-8T>G	4952	OCRL	Uncertain significance	-1	RCV002816568;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128692809	128692809	NC_000023.10:g.128692809T>G	-
NM_000276.4(OCRL):c.561-7T>A	4952	OCRL	Benign/Likely benign	376622194	RCV000927749\|RCV002527364;	N	MedGen:C3661900\|MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128692810	128692810	X:g.128692810T>A	ClinGen:CA10512054	CN169374 not specified;
NM_000276.4(OCRL):c.561G>A (p.Met187Ile)	4952	OCRL	Uncertain significance	916507337	RCV002034280\|RCV002479819;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MONDO:MONDO:0010359,MedGen:C1845167,OMIM:300555, Orphanet:1652, Orphanet:93623; MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128692817	128692817	128692817	-
NM_000276.4(OCRL):c.569G>A (p.Arg190His)	4952	OCRL	Uncertain significance	776946722	RCV001995778;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128692825	128692825	128692825	-
NM_000276.4(OCRL):c.574A>G (p.Lys192Glu)	4952	OCRL	Uncertain significance	-1	RCV002745410;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128692830	128692830	NC_000023.10:g.128692830A>G	-
NM_000276.4(OCRL):c.577_578del (p.Glu193fs)	4952	OCRL	Likely pathogenic	-1	RCV003224765;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128692832	128692833		-
NM_000276.4(OCRL):c.587A>C (p.Asn196Thr)	4952	OCRL	Uncertain significance	-1	RCV002766612;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128692843	128692843	NC_000023.10:g.128692843A>C	-
NM_000276.4(OCRL):c.601A>G (p.Lys201Glu)	4952	OCRL	Uncertain significance	-1	RCV003014746;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128692857	128692857	NC_000023.10:g.128692857A>G	-
NM_000276.4(OCRL):c.610_1244+348del	4952	OCRL	Pathogenic	-1	RCV000192290;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128692865	128697110	NC_000023.10:g.128692866_128697111del	ClinGen:CA347331	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NM_000276.4(OCRL):c.625C>T (p.Leu209Phe)	4952	OCRL	Uncertain significance	-1	RCV002681751\|RCV003111590;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MedGen:C3661900	X	128692881	128692881	NC_000023.10:g.128692881C>T	-
NM_000276.4(OCRL):c.643C>T (p.Gln215Ter)	4952	OCRL	Pathogenic	1936103770	RCV001172281;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128692899	128692899	X:g.128692899C>T	OMIM:300535.0010
NM_000276.4(OCRL):c.659_662del (p.Glu220fs)	4952	OCRL	Pathogenic	2124402634	RCV001526506;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128692912	128692915	128692911	-
NM_000276.4(OCRL):c.663del (p.Leu222fs)	4952	OCRL	Pathogenic	2124402639	RCV001967689;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128692919	128692919	128692918	-
NM_000276.4(OCRL):c.671A>G (p.Lys224Arg)	4952	OCRL	Likely benign	-1	RCV002815843;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128692927	128692927	NC_000023.10:g.128692927A>G	-
NM_000276.4(OCRL):c.676_677del (p.Ile226fs)	4952	OCRL	Pathogenic	1602782195	RCV000791535;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128692930	128692931	X:g.128692930_128692931del	-
NM_000276.4(OCRL):c.708C>T (p.Asn236=)	4952	OCRL	Likely benign	-1	RCV002931994;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128692964	128692964		-
NM_000276.4(OCRL):c.722G>C (p.Arg241Thr)	4952	OCRL	Likely pathogenic	-1	RCV003444434;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128692978	128692978		-
NM_000276.4(OCRL):c.723-15C>T	4952	OCRL	Likely benign	-1	RCV003116279;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128694512	128694512	NC_000023.10:g.128694512C>T	-
NM_000276.4(OCRL):c.723-14G>A	4952	OCRL	Likely benign	-1	RCV003077164;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128694513	128694513	NC_000023.10:g.128694513G>A	-
NM_000276.4(OCRL):c.723-1G>A	4952	OCRL	Pathogenic	2124404113	RCV001387353;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128694526	128694526	128694526	-
NM_000276.4(OCRL):c.725T>C (p.Phe242Ser)	4952	OCRL	not provided	137853828	RCV000059604;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128694529	128694529	X:g.128694529T>C	ClinGen:CA266165,UniProtKB:Q01968#VAR_064773,UniProtKB/Swiss-Prot:VAR_064773	C0028860 309000 Lowe syndrome;
NM_000276.4(OCRL):c.739del (p.Trp247fs)	4952	OCRL	Pathogenic	2124404136	RCV001420679;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128694542	128694542	128694541	-
NM_000276.4(OCRL):c.741G>A (p.Trp247Ter)	4952	OCRL	Likely pathogenic	1936131926	RCV001095682;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128694545	128694545	X:g.128694545G>A	-
NM_000276.4(OCRL):c.746T>G (p.Val249Gly)	4952	OCRL	Uncertain significance	1602783417	RCV000806346;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128694550	128694550	X:g.128694550T>G	-
NM_000276.4(OCRL):c.768C>T (p.Ser256=)	4952	OCRL	Uncertain significance	1368090073	RCV002026072;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128694572	128694572	128694572	-
NM_000276.4(OCRL):c.769G>A (p.Gly257Arg)	4952	OCRL	Uncertain significance	1388273402	RCV002312455\|RCV002493273;	N	MeSH:D030342,MedGen:C0950123; MedGen:CN580796\|MONDO:MONDO:0010359,MedGen:C1845167,OMIM:300555, Orphanet:1652, Orphanet:93623; MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128694573	128694573	NC_000023.10:g.128694573G>A	-
NM_000276.4(OCRL):c.809A>G (p.Asp270Gly)	4952	OCRL	Uncertain significance	1936133194	RCV001042161;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128694613	128694613	X:g.128694613A>G	-
NM_000276.4(OCRL):c.820del (p.Ile274fs)	4952	OCRL	Pathogenic	2124404250	RCV001917432;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128694624	128694624	128694623	-
NM_000276.4(OCRL):c.821T>C (p.Ile274Thr)	4952	OCRL	not provided	137853829	RCV000059605;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128694625	128694625	X:g.128694625T>C	ClinGen:CA266166,UniProtKB:Q01968#VAR_064774,UniProtKB/Swiss-Prot:VAR_064774	C0028860 309000 Lowe syndrome;
NM_000276.4(OCRL):c.824G>C (p.Gly275Ala)	4952	OCRL	Likely pathogenic	1602783564	RCV001029771;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128694628	128694628	X:g.128694628G>C	-
NM_000276.4(OCRL):c.825-19A>C	4952	OCRL	Likely benign	-1	RCV002811360;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128695137	128695137	NC_000023.10:g.128695137A>C	-
NM_000276.4(OCRL):c.830A>G (p.Gln277Arg)	4952	OCRL	not provided	137853830	RCV000059606;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128695161	128695161	X:g.128695161A>G	ClinGen:CA266167,UniProtKB:Q01968#VAR_064775,UniProtKB/Swiss-Prot:VAR_064775	C0028860 309000 Lowe syndrome;
NM_000276.4(OCRL):c.850G>A (p.Glu284Lys)	4952	OCRL	Likely pathogenic	2124404743	RCV001730046;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128695181	128695181	128695181	-
NM_000276.4(OCRL):c.860dup (p.Tyr288fs)	4952	OCRL	Pathogenic	1556345889	RCV000541094;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128695189	128695190	NC_000023.10:g.128695191dup	ClinGen:CA658659039	C0028860 309000 Lowe syndrome;
NM_000276.4(OCRL):c.864C>T (p.Tyr288=)	4952	OCRL	Benign	-1	RCV002628971;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128695195	128695195		-
NM_000276.4(OCRL):c.876G>C (p.Val292=)	4952	OCRL	Likely benign	-1	RCV002624746;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128695207	128695207		-
NM_000276.4(OCRL):c.888A>G (p.Glu296=)	4952	OCRL	Likely benign	2124404797	RCV001441954;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128695219	128695219	128695219	-
NM_000276.4(OCRL):c.897G>A (p.Met299Ile)	4952	OCRL	Benign	138260625	RCV000261174\|RCV000828293\|RCV001083860\|RCV002312202;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MedGen:CN580796; MeSH:D030342,MedGen:C0950123	X	128695228	128695228	NC_000023.10:g.128695228G>A	ClinGen:CA231356	CN169374 not specified;
NM_000276.4(OCRL):c.904G>T (p.Glu302Ter)	4952	OCRL	Pathogenic	2124404819	RCV001956495;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128695235	128695235	128695235	-
NM_000276.4(OCRL):c.912T>G (p.Gly304=)	4952	OCRL	Benign/Likely benign	190659938	RCV002064698\|RCV002507519;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MONDO:MONDO:0010359,MedGen:C1845167,OMIM:300555, Orphanet:1652, Orphanet:93623; MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128695243	128695243	X:g.128695243T>G	-
NM_000276.4(OCRL):c.939+8G>A	4952	OCRL	Benign	369386155	RCV002199650;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128695278	128695278	128695278	-
NM_000276.4(OCRL):c.940-12C>T	4952	OCRL	Benign	141800769	RCV001522074\|RCV001685412;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MedGen:C3661900	X	128696349	128696349	128696349	-
NM_000276.4(OCRL):c.940-11G>A	4952	OCRL	Pathogenic/Likely pathogenic	776743373	RCV000338582\|RCV000590981\|RCV001335218\|RCV001855052\|RCV002274006;	N	MedGen:CN517202\|MONDO:MONDO:0010359,MedGen:C1845167,OMIM:300555, Orphanet:1652, Orphanet:93623; MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MONDO:MONDO:0010359,MedGen:C1845167,OMIM:300555, Orphanet:1652, Orphanet:93623\|MONDO:MONDO:0010645,Me	X	128696350	128696350	X:g.128696350G>A	ClinGen:CA10603588	C1845167 300555 Dent disease 2;
NM_000276.4(OCRL):c.940-11G>T	4952	OCRL	Likely benign	-1	RCV002657820;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128696350	128696350	NC_000023.10:g.128696350G>T	-
NM_000276.4(OCRL):c.940-4A>G	4952	OCRL	Likely benign	2124405755	RCV002030460;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128696357	128696357	128696357	-
NM_000276.4(OCRL):c.943C>T (p.Gln315Ter)	4952	OCRL	Pathogenic	-1	RCV002903369;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128696364	128696364	NC_000023.10:g.128696364C>T	-
NM_000276.4(OCRL):c.946C>G (p.Leu316Val)	4952	OCRL	Uncertain significance	-1	RCV002298232;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128696367	128696367	128696367	-
NM_000276.4(OCRL):c.952C>T (p.Arg318Cys)	4952	OCRL	Likely pathogenic	137853263	RCV000011608\|RCV000059607\|RCV000727111;	N	MONDO:MONDO:0010359,MedGen:C1845167,OMIM:300555, Orphanet:1652, Orphanet:93623\|MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MedGen:CN517202	X	128696373	128696373	X:g.128696373C>T	UniProtKB/Swiss-Prot:VAR_022698,OMIM:300535.0006,ClinGen:CA266168,UniProtKB:Q01968#VAR_022698	C1845167 300555 Dent disease 2;
NM_000276.4(OCRL):c.953G>A (p.Arg318His)	4952	OCRL	Pathogenic/Likely pathogenic	2124405779	RCV001950771\|RCV002479582;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534; MONDO:MONDO:0010359,MedGen:C1845167,OMIM:300555, Orphanet:1652, Orphanet:93623	X	128696374	128696374	128696374	-
NM_000276.4(OCRL):c.954C>T (p.Arg318=)	4952	OCRL	Conflicting interpretations of pathogenicity	149646700	RCV000193379\|RCV002057006\|RCV002372165;	N	MedGen:CN169374\|MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MedGen:CN580796; MeSH:D030342,MedGen:C0950123	X	128696375	128696375	NC_000023.10:g.128696375C>T	ClinGen:CA206830	CN169374 not specified;
NM_000276.4(OCRL):c.963G>A (p.Gly321=)	4952	OCRL	Likely benign	763484849	RCV002158144;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128696384	128696384	128696384	-
NM_000276.4(OCRL):c.970CTT[1] (p.Leu325del)	4952	OCRL	Uncertain significance	727504056	RCV000153615\|RCV001850101;	N	MedGen:CN517202\|MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128696391	128696393	X:g.128696391_128696393del	ClinGen:CA234447	CN169374 not specified;
NM_000276.4(OCRL):c.985A>T (p.Arg329Ter)	4952	OCRL	Likely pathogenic	-1	RCV003151704;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128696406	128696406		-
NM_000276.4(OCRL):c.998G>T (p.Cys333Phe)	4952	OCRL	Uncertain significance	2124405824	RCV002039778\|RCV002224096;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MedGen:C3661900	X	128696419	128696419	128696419	-
NM_000276.4(OCRL):c.1000C>T (p.Arg334Ter)	4952	OCRL	Pathogenic	1556346316	RCV000591698\|RCV000727227;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MedGen:CN517202	X	128696421	128696421	X:g.128696421C>T	ClinGen:CA414552583	C0028860 309000 Lowe syndrome;
NM_000276.4(OCRL):c.1009C>T (p.Arg337Cys)	4952	OCRL	Likely pathogenic	137853831	RCV000059576;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128696430	128696430	X:g.128696430C>T	ClinGen:CA266138,UniProtKB:Q01968#VAR_064776,UniProtKB/Swiss-Prot:VAR_064776	C0028860 309000 Lowe syndrome;
NM_000276.4(OCRL):c.1031T>C (p.Val344Ala)	4952	OCRL	Uncertain significance	-1	RCV003069616;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128696452	128696452	NC_000023.10:g.128696452T>C	-
NM_000276.4(OCRL):c.1050del (p.Met352fs)	4952	OCRL	Likely pathogenic	-1	RCV003314274;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128696468	128696468		-
NM_000276.4(OCRL):c.1070G>A (p.Gly357Glu)	4952	OCRL	not provided	137853854	RCV000059578;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128696589	128696589	X:g.128696589G>A	ClinGen:CA266140,UniProtKB:Q01968#VAR_010170,UniProtKB/Swiss-Prot:VAR_010170	C0028860 309000 Lowe syndrome;
NM_000276.4(OCRL):c.1082G>T (p.Arg361Ile)	4952	OCRL	Uncertain significance	137853832	RCV000059579\|RCV003330423;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MedGen:CN169374	X	128696601	128696601	X:g.128696601G>T	ClinGen:CA266142,UniProtKB:Q01968#VAR_064778,UniProtKB/Swiss-Prot:VAR_064778	C0028860 309000 Lowe syndrome;
NM_000276.4(OCRL):c.1083A>G (p.Arg361=)	4952	OCRL	Benign	-1	RCV002629674;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128696602	128696602		-
NM_000276.4(OCRL):c.1089A>G (p.Val363=)	4952	OCRL	Likely benign	-1	RCV002624682;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128696608	128696608		-
NM_000276.4(OCRL):c.1115T>G (p.Val372Gly)	4952	OCRL	not provided	137853834	RCV000059580;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128696634	128696634	X:g.128696634T>G	ClinGen:CA266143,UniProtKB:Q01968#VAR_010172,UniProtKB/Swiss-Prot:VAR_010172	C0028860 309000 Lowe syndrome;
NM_000276.4(OCRL):c.1117A>T (p.Asn373Tyr)	4952	OCRL	not provided	137853835	RCV000059581;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128696636	128696636	X:g.128696636A>T	ClinGen:CA266144,UniProtKB:Q01968#VAR_064779,UniProtKB/Swiss-Prot:VAR_064779	C0028860 309000 Lowe syndrome;
NM_000276.4(OCRL):c.1121C>T (p.Ser374Phe)	4952	OCRL	not provided	137853836	RCV000059582;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128696640	128696640	X:g.128696640C>T	ClinGen:CA266145,UniProtKB:Q01968#VAR_064780,UniProtKB/Swiss-Prot:VAR_064780	C0028860 309000 Lowe syndrome;
NM_000276.4(OCRL):c.1123C>T (p.His375Tyr)	4952	OCRL	not provided	137853848	RCV000059583;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128696642	128696642	X:g.128696642C>T	ClinGen:CA266146,UniProtKB:Q01968#VAR_010173,UniProtKB/Swiss-Prot:VAR_010173	C0028860 309000 Lowe syndrome;
NM_000276.4(OCRL):c.1128G>T (p.Leu376=)	4952	OCRL	Benign	-1	RCV002923066;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128696647	128696647		-
NM_000276.4(OCRL):c.1184C>T (p.Ala395Val)	4952	OCRL	Likely benign	145139567	RCV001490087\|RCV002562727;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MeSH:D030342,MedGen:C0950123	X	128696703	128696703	128696703	-
NM_000276.4(OCRL):c.1210C>T (p.Gln404Ter)	4952	OCRL	Pathogenic	-1	RCV002471387;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128696729	128696729	NC_000023.10:g.128696729C>T	-
NM_000276.4(OCRL):c.1221G>A (p.Pro407=)	4952	OCRL	Benign/Likely benign	747651906	RCV002315424\|RCV002534574;	N	MeSH:D030342,MedGen:C0950123; MedGen:CN580796\|MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128696740	128696740	NC_000023.10:g.128696740G>A	-
NM_000276.4(OCRL):c.1222C>T (p.Gln408Ter)	4952	OCRL	Pathogenic	-1	RCV003041481;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128696741	128696741	NC_000023.10:g.128696741C>T	-
NM_000276.4(OCRL):c.1225T>C (p.Leu409=)	4952	OCRL	Likely benign	-1	RCV002991537;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128696744	128696744		-
NM_000276.4(OCRL):c.1241A>G (p.His414Arg)	4952	OCRL	not provided	137853837	RCV000059584;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128696760	128696760	X:g.128696760A>G	ClinGen:CA266147,UniProtKB:Q01968#VAR_064781,UniProtKB/Swiss-Prot:VAR_064781	C0028860 309000 Lowe syndrome;
NM_000276.4(OCRL):c.1244+1G>A	4952	OCRL	Pathogenic/Likely pathogenic	1936163310	RCV001234126\|RCV002504318;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MONDO:MONDO:0010359,MedGen:C1845167,OMIM:300555, Orphanet:1652, Orphanet:93623; MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128696764	128696764	X:g.128696764G>A	-
NM_000276.4(OCRL):c.1244+13_1244+41delinsAAA	4952	OCRL	Likely benign	2124406244	RCV002089686;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128696776	128696804	128696776	-
NM_000276.4(OCRL):c.1244+13_1244+38del	4952	OCRL	Likely benign	1465814805	RCV002109587;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128696776	128696801	128696775	-
NM_000276.4(OCRL):c.1244+1338_1366del	4952	OCRL	Likely pathogenic	-1	RCV000795789;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128698100	128701239	X:g.128698100_128698198del	-
NC_000023.10:g.(?_128699729)_(128701360_?)del	4952	OCRL	Likely pathogenic	-1	RCV003109333;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128699729	128701360		-
NM_000276.4(OCRL):c.1245-10dup	4952	OCRL	Benign	-1	RCV002756021;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128699732	128699733	NC_000023.10:g.128699739dup	-
NC_000023.11:g.129565773del	4952	OCRL	Pathogenic	2124409486	RCV001387031;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128699748	128699748		-
NM_000276.4(OCRL):c.1262G>A (p.Gly421Glu)	4952	OCRL	not provided	137853855	RCV000059585;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128699766	128699766	X:g.128699766G>A	ClinGen:CA266148,UniProtKB:Q01968#VAR_010174,UniProtKB/Swiss-Prot:VAR_010174	C0028860 309000 Lowe syndrome;
NM_000276.4(OCRL):c.1270A>G (p.Asn424Asp)	4952	OCRL	not provided	137853856	RCV000059586;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128699774	128699774	X:g.128699774A>G	ClinGen:CA266149,UniProtKB:Q01968#VAR_010175,UniProtKB/Swiss-Prot:VAR_010175	C0028860 309000 Lowe syndrome;
NM_000276.4(OCRL):c.1291G>A (p.Asp431Asn)	4952	OCRL	Benign/Likely benign	137884245	RCV000878673\|RCV002060953\|RCV002318888;	N	MedGen:C3661900\|MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MedGen:CN580796; MeSH:D030342,MedGen:C0950123	X	128699795	128699795	NC_000023.10:g.128699795G>A	-
NM_000276.4(OCRL):c.1320T>G (p.Asn440Lys)	4952	OCRL	Conflicting interpretations of pathogenicity	761140161	RCV001417905\|RCV002384618;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MedGen:CN580796; MeSH:D030342,MedGen:C0950123	X	128699824	128699824	128699824	-
NM_000276.4(OCRL):c.1320T>C (p.Asn440=)	4952	OCRL	Likely benign	-1	RCV003053367;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128699824	128699824		-
NM_000276.4(OCRL):c.1330C>T (p.Leu444Phe)	4952	OCRL	Likely benign	-1	RCV003325630;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128699834	128699834		-
NM_000276.4(OCRL):c.1336A>G (p.Arg446Gly)	4952	OCRL	Conflicting interpretations of pathogenicity	771429717	RCV001446132\|RCV002384688;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MedGen:CN580796; MeSH:D030342,MedGen:C0950123	X	128699840	128699840	128699840	-
NM_000276.4(OCRL):c.1341C>G (p.Leu447=)	4952	OCRL	Likely benign	-1	RCV002598823;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128699845	128699845		-
NM_000276.4(OCRL):c.1351G>A (p.Asp451Asn)	4952	OCRL	Uncertain significance	137853838	RCV000059587\|RCV000174461;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MedGen:CN517202	X	128699855	128699855	X:g.128699855G>A	ClinGen:CA240004,UniProtKB:Q01968#VAR_064782,UniProtKB/Swiss-Prot:VAR_064782	C0028860 309000 Lowe syndrome;
NM_000276.4(OCRL):c.1352A>G (p.Asp451Gly)	4952	OCRL	not provided	137853850	RCV000059588;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128699856	128699856	X:g.128699856A>G	ClinGen:CA266150,UniProtKB:Q01968#VAR_010176,UniProtKB/Swiss-Prot:VAR_010176	C0028860 309000 Lowe syndrome;
NM_000276.4(OCRL):c.1355A>G (p.Gln452Arg)	4952	OCRL	Uncertain significance	1936210819	RCV001217384;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128699859	128699859	X:g.128699859A>G	-
NM_000276.4(OCRL):c.1356+7A>G	4952	OCRL	Likely benign	-1	RCV002796227;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128699867	128699867	NC_000023.10:g.128699867A>G	-
NM_000276.4(OCRL):c.1367A>C (p.Gln456Pro)	4952	OCRL	Uncertain significance	1569460215	RCV000702966;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128701241	128701241	NC_000023.10:g.128701241A>C	-	C0028860 309000 Lowe syndrome;
NM_000276.4(OCRL):c.1367A>G (p.Gln456Arg)	4952	OCRL	Uncertain significance	-1	RCV002811959;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128701241	128701241	NC_000023.10:g.128701241A>G	-
NM_000276.4(OCRL):c.1369C>G (p.Arg457Gly)	4952	OCRL	not provided	137853839	RCV000059589;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128701243	128701243	X:g.128701243C>G	ClinGen:CA266151,UniProtKB:Q01968#VAR_064783,UniProtKB/Swiss-Prot:VAR_064783	C0028860 309000 Lowe syndrome;
NM_000276.4(OCRL):c.1369C>T (p.Arg457Cys)	4952	OCRL	Uncertain significance	137853839	RCV001877394;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128701243	128701243	128701243	-
NM_000276.4(OCRL):c.1370G>C (p.Arg457Pro)	4952	OCRL	Uncertain significance	1602791150	RCV000801650;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128701244	128701244	X:g.128701244G>C	-
NM_000276.4(OCRL):c.1374A>T (p.Thr458=)	4952	OCRL	Likely benign	-1	RCV002881629;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128701248	128701248		-
NM_000276.4(OCRL):c.1388T>C (p.Phe463Ser)	4952	OCRL	not provided	137853851	RCV000059590;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128701262	128701262	X:g.128701262T>C	ClinGen:CA266152,UniProtKB:Q01968#VAR_010177,UniProtKB/Swiss-Prot:VAR_010177	C0028860 309000 Lowe syndrome;
NM_000276.4(OCRL):c.1391T>C (p.Val464Ala)	4952	OCRL	Benign	-1	RCV003116918;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128701265	128701265	NC_000023.10:g.128701265T>C	-
NM_000276.4(OCRL):c.1395C>T (p.Asp465=)	4952	OCRL	Benign	754797006	RCV002117972;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128701269	128701269	128701269	-
NM_000276.4(OCRL):c.1399A>T (p.Asn467Tyr)	4952	OCRL	Likely benign	-1	RCV002807073;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128701273	128701273	NC_000023.10:g.128701273A>T	-
NM_000276.4(OCRL):c.1402G>A (p.Glu468Lys)	4952	OCRL	not provided	137853840	RCV000059591;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128701276	128701276	X:g.128701276G>A	UniProtKB/Swiss-Prot:VAR_064785,ClinGen:CA266153,UniProtKB:Q01968#VAR_064785	C0028860 309000 Lowe syndrome;
NM_000276.4(OCRL):c.1403A>G (p.Glu468Gly)	4952	OCRL	not provided	137853841	RCV000059592;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128701277	128701277	X:g.128701277A>G	ClinGen:CA266154,UniProtKB:Q01968#VAR_064784,UniProtKB/Swiss-Prot:VAR_064784	C0028860 309000 Lowe syndrome;
NM_000276.4(OCRL):c.1416G>A (p.Lys472=)	4952	OCRL	Likely benign	367841616	RCV002119420;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128701290	128701290	128701290	-
NM_000276.4(OCRL):c.1431T>C (p.Tyr477=)	4952	OCRL	Benign	371330116	RCV001518886;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128701305	128701305	128701305	-
NM_000276.4(OCRL):c.1442_1443del (p.Asp480_Ser481insTer)	4952	OCRL	Pathogenic	1602791255	RCV000806128\|RCV003442089;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MedGen:C3661900	X	128701314	128701315	X:g.128701314_128701315del	-
NM_000276.4(OCRL):c.1454G>C (p.Arg485Pro)	4952	OCRL	Uncertain significance	993587899	RCV001318481;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128701328	128701328	128701328	-
NM_000276.4(OCRL):c.1466+1G>A	4952	OCRL	Likely pathogenic	1936229983	RCV001264796;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128701341	128701341	X:g.128701341G>A	-
NM_000276.4(OCRL):c.1466+16C>T	4952	OCRL	Likely benign	750356239	RCV002199590;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128701356	128701356	128701356	-
NM_000276.4(OCRL):c.1467-16G>A	4952	OCRL	Likely benign	-1	RCV002584026;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128703225	128703225	NC_000023.10:g.128703225G>A	-
NM_000276.4(OCRL):c.1467-4dup	4952	OCRL	Likely benign	-1	RCV002953962;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128703236	128703237	NC_000023.10:g.128703237dup	-
NM_000276.4(OCRL):c.1467-3C>G	4952	OCRL	Uncertain significance	779822028	RCV000822414;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128703238	128703238	X:g.128703238C>G	-
NM_000276.4(OCRL):c.1467T>C (p.Ser489=)	4952	OCRL	Conflicting interpretations of pathogenicity	142398161	RCV002006192\|RCV002388993;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MeSH:D030342,MedGen:C0950123; MedGen:CN580796	X	128703241	128703241	128703241	-
NM_000276.4(OCRL):c.1492T>C (p.Cys498Arg)	4952	OCRL	Pathogenic	-1	RCV002875659;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128703266	128703266	NC_000023.10:g.128703266T>C	-
NM_000276.4(OCRL):c.1493G>A (p.Cys498Tyr)	4952	OCRL	not provided	137853857	RCV000059594;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128703267	128703267	X:g.128703267G>A	ClinGen:CA266155,UniProtKB:Q01968#VAR_010178,UniProtKB/Swiss-Prot:VAR_010178	C0028860 309000 Lowe syndrome;
NM_000276.4(OCRL):c.1495G>C (p.Asp499His)	4952	OCRL	not provided	137853842	RCV000059595;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128703269	128703269	X:g.128703269G>C	ClinGen:CA266156,UniProtKB:Q01968#VAR_064788,UniProtKB/Swiss-Prot:VAR_064788	C0028860 309000 Lowe syndrome;
NM_000276.4(OCRL):c.1498C>T (p.Arg500Ter)	4952	OCRL	Pathogenic	398123287	RCV000824979;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128703272	128703272	X:g.128703272C>T	-
NM_000276.4(OCRL):c.1499G>A (p.Arg500Gln)	4952	OCRL	Pathogenic	137853260	RCV000011605\|RCV000724256;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MedGen:CN517202	X	128703273	128703273	X:g.128703273G>A	ClinGen:CA255583,UniProtKB:Q01968#VAR_010180,UniProtKB/Swiss-Prot:VAR_010180,OMIM:300535.0003	C0028860 309000 Lowe syndrome;
NM_000276.4(OCRL):c.1506T>C (p.Leu502=)	4952	OCRL	Benign	145936187	RCV001510390;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128703280	128703280	128703280	-
NM_000276.4(OCRL):c.1507T>C (p.Trp503Arg)	4952	OCRL	not provided	137853843	RCV000059596;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128703281	128703281	X:g.128703281T>C	ClinGen:CA266157,UniProtKB:Q01968#VAR_064789,UniProtKB/Swiss-Prot:VAR_064789	C0028860 309000 Lowe syndrome;
NM_000276.4(OCRL):c.1513G>A (p.Gly505Arg)	4952	OCRL	Uncertain significance	-1	RCV002303560;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128703287	128703287	128703287	-
NM_000276.4(OCRL):c.1514G>A (p.Gly505Glu)	4952	OCRL	Uncertain significance	1569460717	RCV000688552;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128703288	128703288	NC_000023.10:g.128703288G>A	-	C0028860 309000 Lowe syndrome;
NM_000276.4(OCRL):c.1522G>A (p.Val508Ile)	4952	OCRL	Uncertain significance	-1	RCV002569771;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128703296	128703296	NC_000023.10:g.128703296G>A	-
NM_000276.4(OCRL):c.1523T>A (p.Val508Asp)	4952	OCRL	not provided	137853849	RCV000059597;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128703297	128703297	X:g.128703297T>A	ClinGen:CA266158,UniProtKB:Q01968#VAR_010181,UniProtKB/Swiss-Prot:VAR_010181	C0028860 309000 Lowe syndrome;
NM_000276.4(OCRL):c.1538A>G (p.Tyr513Cys)	4952	OCRL	not provided	137853847	RCV000059598;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128703312	128703312	X:g.128703312A>G	ClinGen:CA266159,UniProtKB:Q01968#VAR_010182,UniProtKB/Swiss-Prot:VAR_010182	C0028860 309000 Lowe syndrome;
NM_000276.4(OCRL):c.1566C>G (p.Ser522Arg)	4952	OCRL	not provided	137853853	RCV000059599;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128703340	128703340	X:g.128703340C>G	ClinGen:CA266160,UniProtKB:Q01968#VAR_010183,UniProtKB/Swiss-Prot:VAR_010183	C0028860 309000 Lowe syndrome;
NM_000276.4(OCRL):c.1567G>A (p.Asp523Asn)	4952	OCRL	Pathogenic	2124412861	RCV001849667;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128703341	128703341	128703341	-
NM_000276.4(OCRL):c.1571A>G (p.His524Arg)	4952	OCRL	Likely pathogenic	137853852	RCV000059600;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128703345	128703345	X:g.128703345A>G	ClinGen:CA266161,UniProtKB:Q01968#VAR_010185,UniProtKB/Swiss-Prot:VAR_010185	C0028860 309000 Lowe syndrome;
NM_000276.4(OCRL):c.1572C>G (p.His524Gln)	4952	OCRL	Pathogenic	137853261	RCV000011606;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128703346	128703346	X:g.128703346C>G	ClinGen:CA255585,UniProtKB:Q01968#VAR_010184,UniProtKB/Swiss-Prot:VAR_010184,OMIM:300535.0004	C0028860 309000 Lowe syndrome;
NM_000276.4(OCRL):c.1576C>T (p.Pro526Ser)	4952	OCRL	Pathogenic	886039518	RCV000256005\|RCV001855009;	N	MedGen:CN517202\|MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128703350	128703350	X:g.128703350C>T	ClinGen:CA10588739	CN517202 not provided;
NM_000276.4(OCRL):c.1577C>T (p.Pro526Leu)	4952	OCRL	Pathogenic	137853858	RCV000059601;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128703351	128703351	X:g.128703351C>T	ClinGen:CA266162,UniProtKB:Q01968#VAR_023958,UniProtKB/Swiss-Prot:VAR_023958	C0028860 309000 Lowe syndrome;
NM_000276.4(OCRL):c.1585G>A (p.Ala529Thr)	4952	OCRL	Uncertain significance	1219583539	RCV001918423;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128703359	128703359	128703359	-
NM_000276.4(OCRL):c.1586C>A (p.Ala529Asp)	4952	OCRL	Uncertain significance	-1	RCV003140632;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128703360	128703360	NC_000023.10:g.128703360C>A	-
NM_000276.4(OCRL):c.1587C>G (p.Ala529=)	4952	OCRL	Likely benign	375634816	RCV002068659\|RCV002502708;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534; MONDO:MONDO:0010359,MedGen:C1845167,OMIM:300555, Orphanet:1652, Orphanet:93623	X	128703361	128703361	X:g.128703361C>G	-
NM_000276.4(OCRL):c.1602G>A (p.Gly534=)	4952	OCRL	Uncertain significance	773214157	RCV000537877;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128703376	128703376	X:g.128703376G>A	ClinGen:CA10512213	C0028860 309000 Lowe syndrome;
NM_000276.4(OCRL):c.1602+1G>T	4952	OCRL	Pathogenic	2124412937	RCV001960629;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128703377	128703377	128703377	-
NM_000276.4(OCRL):c.1602+5A>G	4952	OCRL	Uncertain significance	-1	RCV002909404;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128703381	128703381	NC_000023.10:g.128703381A>G	-
NM_000276.4(OCRL):c.1602+11G>A	4952	OCRL	Benign	189554643	RCV002081227\|RCV002398204;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MeSH:D030342,MedGen:C0950123; MedGen:CN580796	X	128703387	128703387	128703387	-
NM_000276.4(OCRL):c.1602+15G>T	4952	OCRL	Likely benign	-1	RCV002730288;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128703391	128703391	NC_000023.10:g.128703391G>T	-
NM_000276.4(OCRL):c.1602+17A>T	4952	OCRL	Likely benign	2124412959	RCV002178059;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128703393	128703393	128703393	-
NM_000276.4(OCRL):c.1603-12A>G	4952	OCRL	Likely benign	1440624100	RCV002163119;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128709105	128709105	128709105	-
NM_000276.4(OCRL):c.1614G>A (p.Val538=)	4952	OCRL	Likely benign	748308192	RCV002169259;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128709128	128709128	128709128	-
NM_000276.4(OCRL):c.1621C>T (p.Arg541Ter)	4952	OCRL	Pathogenic	1182741031	RCV000623245\|RCV000680054;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128709135	128709135	X:g.128709135C>T	ClinGen:CA414617518	C0950123 Inborn genetic diseases;
NM_000276.4(OCRL):c.1631G>A (p.Arg544Gln)	4952	OCRL	Likely benign	-1	RCV002750393;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128709145	128709145	NC_000023.10:g.128709145G>A	-
NM_000276.4(OCRL):c.1655G>A (p.Arg552His)	4952	OCRL	Uncertain significance	2124417872	RCV001964902;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128709169	128709169	128709169	-
NM_000276.4(OCRL):c.1656C>T (p.Arg552=)	4952	OCRL	Conflicting interpretations of pathogenicity	761645724	RCV001329155\|RCV001751638\|RCV002070157;	N	MONDO:MONDO:0010359,MedGen:C1845167,OMIM:300555, Orphanet:1652, Orphanet:93623\|MedGen:CN517202\|MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128709170	128709170	128709170	-
NM_000276.4(OCRL):c.1657A>G (p.Ile553Val)	4952	OCRL	Likely benign	773281269	RCV002314577\|RCV002534550;	N	MeSH:D030342,MedGen:C0950123; MedGen:CN580796\|MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128709171	128709171	NC_000023.10:g.128709171A>G	-
NM_000276.4(OCRL):c.1666A>G (p.Arg556Gly)	4952	OCRL	Uncertain significance	-1	RCV002663413;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128709180	128709180	NC_000023.10:g.128709180A>G	-
NM_000276.4(OCRL):c.1696G>T (p.Glu566Ter)	4952	OCRL	Pathogenic	-1	RCV002889535;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128709210	128709210	NC_000023.10:g.128709210G>T	-
NM_000276.4(OCRL):c.1712del (p.Glu571fs)	4952	OCRL	Pathogenic	-1	RCV002870808;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128709226	128709226	NC_000023.10:g.128709226del	-
NM_000276.4(OCRL):c.1713+1G>A	4952	OCRL	Likely pathogenic	-1	RCV002791887;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128709228	128709228	NC_000023.10:g.128709228G>A	-
NM_000276.4(OCRL):c.1713+6C>G	4952	OCRL	Likely benign	191367057	RCV002111884;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128709233	128709233	128709233	-
NM_000276.4(OCRL):c.1714-18C>T	4952	OCRL	Likely benign	-1	RCV002866582;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128709856	128709856	NC_000023.10:g.128709856C>T	-
NM_000276.4(OCRL):c.1714-2A>G	4952	OCRL	Likely pathogenic	-1	RCV003388760;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128709872	128709872		-
NM_000276.4(OCRL):c.1714-1G>A	4952	OCRL	Pathogenic	794727182	RCV000175133\|RCV001380038;	N	MedGen:CN517202\|MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128709873	128709873	X:g.128709873G>A	ClinGen:CA275039	C0028860 309000 Lowe syndrome;
NM_000276.4(OCRL):c.1725A>G (p.Glu575=)	4952	OCRL	Likely benign	-1	RCV002918405;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128709885	128709885		-
NM_000276.4(OCRL):c.1753_1755del (p.Glu585del)	4952	OCRL	Pathogenic	1936362098	RCV001049745;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128709911	128709913	X:g.128709911_128709913del	-
NM_000276.4(OCRL):c.1773C>A (p.Asn591Lys)	4952	OCRL	not provided	137853844	RCV000059602;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128709933	128709933	X:g.128709933C>A	ClinGen:CA266163,UniProtKB:Q01968#VAR_064790,UniProtKB/Swiss-Prot:VAR_064790	C0028860 309000 Lowe syndrome;
NM_000276.4(OCRL):c.1812A>G (p.Lys604=)	4952	OCRL	Likely benign	-1	RCV002607250;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128709972	128709972		-
NM_000276.4(OCRL):c.1822dup (p.Ser608fs)	4952	OCRL	Pathogenic	-1	RCV003025651;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128709981	128709982	NC_000023.10:g.128709982dup	-
NM_000276.4(OCRL):c.1880-8C>T	4952	OCRL	Likely benign	750041502	RCV001462861;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128710286	128710286	128710286	-
NM_000276.4(OCRL):c.1889T>C (p.Val630Ala)	4952	OCRL	Uncertain significance	768629676	RCV001996518\|RCV003426280\|RCV002479721;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|\|MONDO:MONDO:0010359,MedGen:C1845167,OMIM:300555, Orphanet:1652, Orphanet:93623; MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128710303	128710303	128710303	-
NM_000276.4(OCRL):c.1907T>A (p.Val636Glu)	4952	OCRL	Pathogenic	1602802472	RCV000850187;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128710321	128710321	X:g.128710321T>A	-
NM_000276.4(OCRL):c.1925_1926del (p.Ser642fs)	4952	OCRL	Pathogenic	2124418946	RCV001754578;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128710337	128710338	128710336	-
NM_000276.4(OCRL):c.1926T>C (p.Ser642=)	4952	OCRL	Likely benign	-1	RCV002922047;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128710340	128710340		-
NM_000276.4(OCRL):c.1943C>T (p.Ser648Leu)	4952	OCRL	Uncertain significance	753260631	RCV001892665;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128710357	128710357	128710357	-
NM_000276.4(OCRL):c.1944G>A (p.Ser648=)	4952	OCRL	Likely benign	776881376	RCV001730246\|RCV002073419;	N	MedGen:C3661900\|MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128710358	128710358	128710358	-
NM_000276.4(OCRL):c.1972G>A (p.Val658Ile)	4952	OCRL	Uncertain significance	-1	RCV002800367;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128710386	128710386	NC_000023.10:g.128710386G>A	-
NM_000276.4(OCRL):c.1974C>T (p.Val658=)	4952	OCRL	Likely benign	781410604	RCV002190623;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128710388	128710388	128710388	-
NM_000276.4(OCRL):c.1979A>C (p.His660Pro)	4952	OCRL	Pathogenic	1602802640	RCV000850186;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128710393	128710393	X:g.128710393A>C	-
NM_000276.4(OCRL):c.1987C>T (p.Arg663Ter)	4952	OCRL	Pathogenic	2124419015	RCV002250972;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128710401	128710401	128710401	-
NM_000276.4(OCRL):c.1988G>T (p.Arg663Leu)	4952	OCRL	Uncertain significance	745885693	RCV001299927;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128710402	128710402	128710402	-
NM_000276.4(OCRL):c.2009C>T (p.Thr670Ile)	4952	OCRL	Uncertain significance	1936370341	RCV001366365\|RCV002265025;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MedGen:C3661900	X	128710423	128710423	128710423	-
NM_000276.4(OCRL):c.2016T>C (p.Ser672=)	4952	OCRL	Likely benign	1012694347	RCV001393821;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128710430	128710430	128710430	-
NM_000276.4(OCRL):c.2051_2055delinsCTA (p.Leu684fs)	4952	OCRL	Likely pathogenic	-1	RCV002510697;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128710465	128710469	NC_000023.10:g.128710465_128710469delinsCTA	-
NM_000276.4(OCRL):c.2066G>A (p.Arg689His)	4952	OCRL	Uncertain significance	748186190	RCV001291799\|RCV002499519\|RCV002538405;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MONDO:MONDO:0010359,MedGen:C1845167,OMIM:300555, Orphanet:1652, Orphanet:93623; MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MeSH:D030342,MedGen:C0950123	X	128710480	128710480	128710480	-
NM_000276.4(OCRL):c.2083C>T (p.Arg695Ter)	4952	OCRL	Pathogenic/Likely pathogenic	2124419087	RCV001925739;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128710497	128710497	128710497	-
NM_000276.4(OCRL):c.2086G>A (p.Glu696Lys)	4952	OCRL	Uncertain significance	2124419096	RCV001874879;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128710500	128710500	128710500	-
NM_000276.4(OCRL):c.2115+4A>G	4952	OCRL	Uncertain significance	1326476020	RCV002032186;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128710533	128710533	128710533	-
NM_000276.4(OCRL):c.2115+15A>G	4952	OCRL	Likely benign	-1	RCV002667138;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128710544	128710544	NC_000023.10:g.128710544A>G	-
NM_000276.4(OCRL):c.2116-11T>A	4952	OCRL	Likely benign	2124426123	RCV002161081;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128718310	128718310	128718310	-
NM_000276.4(OCRL):c.2116-9C>T	4952	OCRL	Benign	145297701	RCV002066223;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128718312	128718312	X:g.128718312C>T	-
NM_000276.4(OCRL):c.2138A>G (p.Lys713Arg)	4952	OCRL	Uncertain significance	148646884	RCV001911815\|RCV002490205;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534; MONDO:MONDO:0010359,MedGen:C1845167,OMIM:300555, Orphanet:1652, Orphanet:93623	X	128718343	128718343	128718343	-
NC_000023.10:g.(?_128720959)_(128724247_?)del	4952	OCRL	Pathogenic	-1	RCV003109334;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128720959	128724247		-
NM_000276.4(OCRL):c.2151T>G (p.Leu717=)	4952	OCRL	Likely benign	-1	RCV002904797;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128720990	128720990		-
NM_000276.4(OCRL):c.2177G>T (p.Gly726Val)	4952	OCRL	Benign/Likely benign	755071897	RCV000969818\|RCV001532711\|RCV002427404;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MedGen:C3661900\|MedGen:CN580796; MeSH:D030342,MedGen:C0950123	X	128721016	128721016	X:g.128721016G>T	-
NM_000276.4(OCRL):c.2244C>T (p.Tyr748=)	4952	OCRL	Likely benign	781297236	RCV001500073;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128721083	128721083	128721083	-
NM_000276.4(OCRL):c.2245G>T (p.Ala749Ser)	4952	OCRL	Conflicting interpretations of pathogenicity	751678290	RCV001797876\|RCV002541311;	N	MedGen:CN169374\|MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128721084	128721084	128721084	-
NM_000276.4(OCRL):c.2256+1G>T	4952	OCRL	Likely pathogenic	2124428298	RCV001977225;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128721096	128721096	128721096	-
NM_000276.4(OCRL):c.2256+6T>C	4952	OCRL	Uncertain significance	-1	RCV003083752;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128721101	128721101	NC_000023.10:g.128721101T>C	-
NM_000276.4(OCRL):c.2256+12T>C	4952	OCRL	Likely benign	-1	RCV003014376;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128721107	128721107	NC_000023.10:g.128721107T>C	-
NM_000276.4(OCRL):c.2256+17del	4952	OCRL	Likely benign	-1	RCV002898870;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128721111	128721111	NC_000023.10:g.128721112del	-
NM_000276.4(OCRL):c.2257-2A>T	4952	OCRL	Pathogenic	2124429175	RCV001526507;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128722154	128722154	128722154	-
NM_000276.4(OCRL):c.2282T>G (p.Met761Arg)	4952	OCRL	Likely benign	1336177262	RCV001923104;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128722181	128722181	128722181	-
NM_000276.4(OCRL):c.2292G>T (p.Glu764Asp)	4952	OCRL	Uncertain significance	-1	RCV002996848;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128722191	128722191	NC_000023.10:g.128722191G>T	-
NM_000276.4(OCRL):c.2299C>T (p.Gln767Ter)	4952	OCRL	Pathogenic	794727333	RCV000176152\|RCV001852169;	N	MedGen:CN517202\|MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128722198	128722198	NC_000023.10:g.128722198C>T	ClinGen:CA275100	C1845167 300555 Dent disease 2;
NM_000276.4(OCRL):c.2313_2316del (p.Cys771fs)	4952	OCRL	Pathogenic	-1	RCV002872306;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128722210	128722213	NC_000023.10:g.128722212_128722215del	-
NM_000276.4(OCRL):c.2314C>T (p.Leu772=)	4952	OCRL	Likely benign	-1	RCV003053060;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128722213	128722213		-
NM_000276.4(OCRL):c.2341+12G>A	4952	OCRL	Likely benign	756410458	RCV002079884;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128722252	128722252	128722252	-
NM_000276.4(OCRL):c.2341+12G>C	4952	OCRL	Benign	-1	RCV002745317;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128722252	128722252	NC_000023.10:g.128722252G>C	-
NM_000276.4(OCRL):c.2342-10G>A	4952	OCRL	Uncertain significance	-1	RCV003024619;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128722853	128722853	NC_000023.10:g.128722853G>A	-
NM_000276.4(OCRL):c.2360_2361del (p.Val787fs)	4952	OCRL	Pathogenic	886039519	RCV000255112\|RCV002510570;	N	MedGen:CN517202\|MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128722879	128722880	X:g.128722879_128722880del	ClinGen:CA10588740	CN517202 not provided;
NM_000276.4(OCRL):c.2389G>C (p.Ala797Pro)	4952	OCRL	Pathogenic	935956958	RCV000687544;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128722910	128722910	NC_000023.10:g.128722910G>C	-	C0028860 309000 Lowe syndrome;
NM_000276.4(OCRL):c.2415C>T (p.Tyr805=)	4952	OCRL	Benign/Likely benign	377180274	RCV001519067\|RCV002292644\|RCV002501815;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MedGen:C3661900\|MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534; MONDO:MONDO:0010359,MedGen:C1845167,OMIM:300555, Orphanet:1652, Orphanet:93623	X	128722936	128722936	128722936	-
NM_000276.4(OCRL):c.2418_2419delinsTA (p.Glu806_Leu807delinsAspMet)	4952	OCRL	Uncertain significance	2124429709	RCV001948607;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128722939	128722940	128722939	-
NM_000276.4(OCRL):c.2427G>A (p.Gln809=)	4952	OCRL	Likely benign	145277867	RCV001439478;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128722948	128722948	X:g.128722948G>A	ClinGen:CA10512366	C0028860 309000 Lowe syndrome;
NM_000276.4(OCRL):c.2428C>T (p.Arg810Ter)	4952	OCRL	Pathogenic	1569463775	RCV000729366\|RCV000768436;	N	MedGen:CN517202\|MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128722949	128722949	NC_000023.10:g.128722949C>T	-
NM_000276.4(OCRL):c.2429G>A (p.Arg810Gln)	4952	OCRL	Uncertain significance	-1	RCV002608228;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128722950	128722950	NC_000023.10:g.128722950G>A	-
NM_000276.4(OCRL):c.2456G>C (p.Arg819Pro)	4952	OCRL	Uncertain significance	-1	RCV002765393;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128722977	128722977	NC_000023.10:g.128722977G>C	-
NM_000276.4(OCRL):c.2464C>T (p.Arg822Ter)	4952	OCRL	Pathogenic	1602819835	RCV000794610\|RCV000851318;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MONDO:MONDO:0010359,MedGen:C1845167,OMIM:300555, Orphanet:1652, Orphanet:93623	X	128722985	128722985	X:g.128722985C>T	-
NM_000276.4(OCRL):c.2469+1G>A	4952	OCRL	Pathogenic	1936553500	RCV001036352;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128722991	128722991	X:g.128722991G>A	-
NM_000276.4(OCRL):c.2469+4G>T	4952	OCRL	Uncertain significance	-1	RCV002621666;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128722994	128722994	NC_000023.10:g.128722994G>T	-
NM_000276.4(OCRL):c.2470-1G>A	4952	OCRL	Likely pathogenic	1602820970	RCV000814175;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128723821	128723821	X:g.128723821G>A	-
NM_000276.4(OCRL):c.2478C>T (p.Ser826=)	4952	OCRL	Likely benign	1936564599	RCV001393838;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128723830	128723830	128723830	-
NM_000276.4(OCRL):c.2487G>A (p.Pro829=)	4952	OCRL	Likely benign	-1	RCV002587842;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128723839	128723839		-
NM_000276.4(OCRL):c.2530C>T (p.Arg844Ter)	4952	OCRL	Pathogenic	387906484	RCV000011604\|RCV001588808\|RCV002496327;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MedGen:CN517202\|MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534; MONDO:MONDO:0010359,MedGen:C1845167,OMIM:300555, Orphanet:1652, Orphanet:93623	X	128723882	128723882	X:g.128723882C>T	ClinGen:CA255580,OMIM:300535.0002	C0028860 309000 Lowe syndrome;
NM_000276.4(OCRL):c.2553A>G (p.Glu851=)	4952	OCRL	Likely benign	-1	RCV003034456;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128723905	128723905		-
NM_000276.4(OCRL):c.2563G>A (p.Val855Ile)	4952	OCRL	Conflicting interpretations of pathogenicity	376280495	RCV000937727\|RCV001573186\|RCV002427342\|RCV002502871;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MedGen:CN517202\|MedGen:CN580796; MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0010359,MedGen:C1845167,OMIM:300555, Orphanet:1652, Orphanet:93623; MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000,Orphan	X	128723915	128723915	X:g.128723915G>A	-
NM_000276.4(OCRL):c.2581G>C (p.Ala861Pro)	4952	OCRL	Likely pathogenic	2124430527	RCV002040470;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128723933	128723933	128723933	-
NM_000276.4(OCRL):c.2581G>A (p.Ala861Thr)	4952	OCRL	Pathogenic	-1	RCV002472245;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128723933	128723933	NC_000023.10:g.128723933G>A	-
NM_000276.4(OCRL):c.2581G>T (p.Ala861Ser)	4952	OCRL	Uncertain significance	-1	RCV002904779;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128723933	128723933	NC_000023.10:g.128723933G>T	-
NM_000276.4(OCRL):c.2581+15T>G	4952	OCRL	Likely benign	-1	RCV002933565;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128723948	128723948	NC_000023.10:g.128723948T>G	-
NM_000276.4(OCRL):c.2582-9G>A	4952	OCRL	Benign	2071705	RCV002066284\|RCV002502932;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534; MONDO:MONDO:0010359,MedGen:C1845167,OMIM:300555, Orphanet:1652, Orphanet:93623	X	128724114	128724114	X:g.128724114G>A	-
NM_000276.4(OCRL):c.2582-3T>A	4952	OCRL	Uncertain significance	2124430712	RCV001878496;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128724120	128724120	128724120	-
NM_000276.4(OCRL):c.2587C>G (p.Leu863Val)	4952	OCRL	Uncertain significance	2124430719	RCV001915597;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128724128	128724128	128724128	-
NM_000276.4(OCRL):c.2593A>G (p.Thr865Ala)	4952	OCRL	Uncertain significance	-1	RCV002736525;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128724134	128724134	NC_000023.10:g.128724134A>G	-
NM_000276.4(OCRL):c.2620A>G (p.Asn874Asp)	4952	OCRL	Uncertain significance	-1	RCV003045833;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128724161	128724161	NC_000023.10:g.128724161A>G	-
NM_000276.4(OCRL):c.2635C>T (p.Gln879Ter)	4952	OCRL	Uncertain significance	1556359544	RCV000632785;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128724176	128724176	X:g.128724176C>T	ClinGen:CA414633204	C0028860 309000 Lowe syndrome;
NM_000276.4(OCRL):c.2657G>A (p.Arg886His)	4952	OCRL	Uncertain significance	-1	RCV003083783;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128724198	128724198	NC_000023.10:g.128724198G>A	-
NM_000276.4(OCRL):c.2658T>A (p.Arg886=)	4952	OCRL	Benign	-1	RCV002963273;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128724199	128724199		-
NM_000276.4(OCRL):c.2672T>G (p.Leu891Arg)	4952	OCRL	not provided	137853845	RCV000059603;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128724213	128724213	X:g.128724213T>G	ClinGen:CA266164,UniProtKB:Q01968#VAR_064794,UniProtKB/Swiss-Prot:VAR_064794	C0028860 309000 Lowe syndrome;
NM_000276.4(OCRL):c.2680T>A (p.Phe894Ile)	4952	OCRL	Conflicting interpretations of pathogenicity	147629352	RCV000762668\|RCV001816821\|RCV002536591;	N	MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534	X	128724221	128724221	NC_000023.10:g.128724221T>A	-
NM_000276.4(OCRL):c.2694C>T (p.Ser898=)	4952	OCRL	Benign/Likely benign	780742903	RCV002066063\|RCV002427300;	N	MONDO:MONDO:0010645,MedGen:C0028860,OMIM:309000, Orphanet:534\|MeSH:D030342,MedGen:C0950123; MedGen:CN580796	X	128724235	128724235	X:g.128724235C>T	-

MSeqDR Portal

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