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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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

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, 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 1, Intestinal (C566593)
..Hypomagnesemia 2, renal (C537152)
..Hypomagnesemia 4, Renal (C567127)
..Hypomagnesemia 5, Renal, with Ocular Involvement (C565423)
..Hypomagnesemia primary (C537153)
..Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial (C564024)
..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
..Renal hypouricemia (C537757)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8176

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:

OMIM:309000

ParentIDs:

MESH:D000015|MESH:D015499|MESH:D020157|MESH:D020739|MESH:D040181

TreeNumbers:

C10.228.140.163.100.640 |C12.777.419.815.720 |C13.351.968.419.815.720 |C16.131.077.661 |C16.320.322.750 |C16.320.565.151.600 |C16.320.565.189.640 |C16.320.565.861.750 |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;

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:0002019	Constipation
8	HP:0000028	Cryptorchidism
9	HP:0007948	Dense posterior cortical cataract
10	HP:0000519	Developmental 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:0006297	Enamel hypoplasia
15	HP:0001508	Failure to thrive
16	HP:0025131	Finger swelling
17	HP:0002857	Genu valgum
18	HP:0000501	Glaucoma
19	HP:0002827	Hip dislocation
20	HP:0003124	Hypercholesterolemia
21	HP:0003109	Hyperphosphaturia
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
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	Seizure
40	HP:0004322	Short stature
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_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NG_008638.1:g.23614_27859del4246	4952	OCRL	Pathogenic	-1	RCV000192290;	N	MedGen:C0028860,OMIM:309000,ORPHA:534,SNOMED CT:79385002	X	128692865	128697110	-	-		-	C0028860 309000 Lowe syndrome
NM_000276.3(OCRL):c.725T>C (p.Phe242Ser)	4952	OCRL	not provided	137853828	RCV000059604;	N	MedGen:C0028860,OMIM:309000,ORPHA:534,SNOMED CT:79385002	X	128694529	128694529	NM_000276.3:c.725T>C	NP_000267.2:p.Phe242Ser	NC_000023.10:g.128694529T>C	UniProtKB (variants):VAR_064773	C0028860 309000 Lowe syndrome
NM_000276.3(OCRL):c.821T>C (p.Ile274Thr)	4952	OCRL	not provided	137853829	RCV000059605;	N	MedGen:C0028860,OMIM:309000,ORPHA:534,SNOMED CT:79385002	X	128694625	128694625	NM_000276.3:c.821T>C	NP_000267.2:p.Ile274Thr	NC_000023.10:g.128694625T>C	UniProtKB (variants):VAR_064774	C0028860 309000 Lowe syndrome
NM_000276.3(OCRL):c.830A>G (p.Gln277Arg)	4952	OCRL	not provided	137853830	RCV000059606;	N	MedGen:C0028860,OMIM:309000,ORPHA:534,SNOMED CT:79385002	X	128695161	128695161	NM_000276.3:c.830A>G	NP_000267.2:p.Gln277Arg	NC_000023.10:g.128695161A>G	UniProtKB (variants):VAR_064775	C0028860 309000 Lowe syndrome
NM_000276.3(OCRL):c.909_910delAG (p.Gly304Phefs)	4952	OCRL	Pathogenic	398123290	RCV000173669; RCV000173668; RCV000078497;	N	MedGen:C0028860,OMIM:309000,ORPHA:534,SNOMED CT:79385002; MedGen:C1845167,OMIM:300555,ORPHA:93623; MedGen:CN221809	X	128695240	128695241	NM_000276.3:c.909_910delAG	NP_000267.2:p.Gly304Phefs	NC_000023.10:g.128695240_128695241delAG	HGMD:CD002182	C1845167 300555 Dent disease 2; C0028860 309000 Lowe syndrome; CN221809 not provided
NM_000276.3(OCRL):c.952C>T (p.Arg318Cys)	4952	OCRL	Likely pathogenic;Pathogenic	137853263	RCV000059607; RCV000011608;	N	MedGen:C0028860,OMIM:309000,ORPHA:534,SNOMED CT:79385002; MedGen:C1845167,OMIM:300555,ORPHA:93623	X	128696373	128696373	NM_000276.3:c.952C>T	NP_000267.2:p.Arg318Cys	NC_000023.10:g.128696373C>T	OMIM Allelic Variant:300535.0006,UniProtKB (variants):VAR_022698	C1845167 300555 Dent disease 2; C0028860 309000 Lowe syndrome
NM_000276.3(OCRL):c.1009C>T (p.Arg337Cys)	4952	OCRL	not provided	137853831	RCV000059576;	N	MedGen:C0028860,OMIM:309000,ORPHA:534,SNOMED CT:79385002	X	128696430	128696430	NM_000276.3:c.1009C>T	NP_000267.2:p.Arg337Cys	NC_000023.10:g.128696430C>T	UniProtKB (variants):VAR_064776	C0028860 309000 Lowe syndrome
NM_000276.3(OCRL):c.1070G>A (p.Gly357Glu)	4952	OCRL	not provided	137853854	RCV000059578;	N	MedGen:C0028860,OMIM:309000,ORPHA:534,SNOMED CT:79385002	X	128696589	128696589	NM_000276.3:c.1070G>A	NP_000267.2:p.Gly357Glu	NC_000023.10:g.128696589G>A	UniProtKB (variants):VAR_010170	C0028860 309000 Lowe syndrome
NM_000276.3(OCRL):c.1082G>T (p.Arg361Ile)	4952	OCRL	not provided	137853832	RCV000059579;	N	MedGen:C0028860,OMIM:309000,ORPHA:534,SNOMED CT:79385002	X	128696601	128696601	NM_000276.3:c.1082G>T	NP_000267.2:p.Arg361Ile	NC_000023.10:g.128696601G>T	UniProtKB (variants):VAR_064778	C0028860 309000 Lowe syndrome
NM_000276.3(OCRL):c.1115T>G (p.Val372Gly)	4952	OCRL	not provided	137853834	RCV000059580;	N	MedGen:C0028860,OMIM:309000,ORPHA:534,SNOMED CT:79385002	X	128696634	128696634	NM_000276.3:c.1115T>G	NP_000267.2:p.Val372Gly	NC_000023.10:g.128696634T>G	UniProtKB (variants):VAR_010172	C0028860 309000 Lowe syndrome
NM_000276.3(OCRL):c.1117A>T (p.Asn373Tyr)	4952	OCRL	not provided	137853835	RCV000059581;	N	MedGen:C0028860,OMIM:309000,ORPHA:534,SNOMED CT:79385002	X	128696636	128696636	NM_000276.3:c.1117A>T	NP_000267.2:p.Asn373Tyr	NC_000023.10:g.128696636A>T	UniProtKB (variants):VAR_064779	C0028860 309000 Lowe syndrome
NM_000276.3(OCRL):c.1121C>T (p.Ser374Phe)	4952	OCRL	not provided	137853836	RCV000059582;	N	MedGen:C0028860,OMIM:309000,ORPHA:534,SNOMED CT:79385002	X	128696640	128696640	NM_000276.3:c.1121C>T	NP_000267.2:p.Ser374Phe	NC_000023.10:g.128696640C>T	UniProtKB (variants):VAR_064780	C0028860 309000 Lowe syndrome
NM_000276.3(OCRL):c.1123C>T (p.His375Tyr)	4952	OCRL	not provided	137853848	RCV000059583;	N	MedGen:C0028860,OMIM:309000,ORPHA:534,SNOMED CT:79385002	X	128696642	128696642	NM_000276.3:c.1123C>T	NP_000267.2:p.His375Tyr	NC_000023.10:g.128696642C>T	UniProtKB (variants):VAR_010173	C0028860 309000 Lowe syndrome
NM_000276.3(OCRL):c.1241A>G (p.His414Arg)	4952	OCRL	not provided	137853837	RCV000059584;	N	MedGen:C0028860,OMIM:309000,ORPHA:534,SNOMED CT:79385002	X	128696760	128696760	NM_000276.3:c.1241A>G	NP_000267.2:p.His414Arg	NC_000023.10:g.128696760A>G	UniProtKB (variants):VAR_064781	C0028860 309000 Lowe syndrome
NM_000276.3(OCRL):c.1262G>A (p.Gly421Glu)	4952	OCRL	not provided	137853855	RCV000059585;	N	MedGen:C0028860,OMIM:309000,ORPHA:534,SNOMED CT:79385002	X	128699766	128699766	NM_000276.3:c.1262G>A	NP_000267.2:p.Gly421Glu	NC_000023.10:g.128699766G>A	UniProtKB (variants):VAR_010174	C0028860 309000 Lowe syndrome
NM_000276.3(OCRL):c.1270A>G (p.Asn424Asp)	4952	OCRL	not provided	137853856	RCV000059586;	N	MedGen:C0028860,OMIM:309000,ORPHA:534,SNOMED CT:79385002	X	128699774	128699774	NM_000276.3:c.1270A>G	NP_000267.2:p.Asn424Asp	NC_000023.10:g.128699774A>G	UniProtKB (variants):VAR_010175	C0028860 309000 Lowe syndrome
NM_000276.3(OCRL):c.1351G>A (p.Asp451Asn)	4952	OCRL	Uncertain significance	137853838	RCV000059587; RCV000174461;	N	MedGen:C0028860,OMIM:309000,ORPHA:534,SNOMED CT:79385002; MedGen:CN221809	X	128699855	128699855	NM_000276.3:c.1351G>A	NP_000267.2:p.Asp451Asn	NC_000023.10:g.128699855G>A	UniProtKB (variants):VAR_064782	C0028860 309000 Lowe syndrome; CN221809 not provided
NM_000276.3(OCRL):c.1352A>G (p.Asp451Gly)	4952	OCRL	not provided	137853850	RCV000059588;	N	MedGen:C0028860,OMIM:309000,ORPHA:534,SNOMED CT:79385002	X	128699856	128699856	NM_000276.3:c.1352A>G	NP_000267.2:p.Asp451Gly	NC_000023.10:g.128699856A>G	UniProtKB (variants):VAR_010176	C0028860 309000 Lowe syndrome
NM_000276.3(OCRL):c.1369C>G (p.Arg457Gly)	4952	OCRL	not provided	137853839	RCV000059589;	N	MedGen:C0028860,OMIM:309000,ORPHA:534,SNOMED CT:79385002	X	128701243	128701243	NM_000276.3:c.1369C>G	NP_000267.2:p.Arg457Gly	NC_000023.10:g.128701243C>G	UniProtKB (variants):VAR_064783	C0028860 309000 Lowe syndrome
NM_000276.3(OCRL):c.1388T>C (p.Phe463Ser)	4952	OCRL	not provided	137853851	RCV000059590;	N	MedGen:C0028860,OMIM:309000,ORPHA:534,SNOMED CT:79385002	X	128701262	128701262	NM_000276.3:c.1388T>C	NP_000267.2:p.Phe463Ser	NC_000023.10:g.128701262T>C	UniProtKB (variants):VAR_010177	C0028860 309000 Lowe syndrome
NM_000276.3(OCRL):c.1402G>A (p.Glu468Lys)	4952	OCRL	not provided	137853840	RCV000059591;	N	MedGen:C0028860,OMIM:309000,ORPHA:534,SNOMED CT:79385002	X	128701276	128701276	NM_000276.3:c.1402G>A	NP_000267.2:p.Glu468Lys	NC_000023.10:g.128701276G>A	UniProtKB (variants):VAR_064785	C0028860 309000 Lowe syndrome
NM_000276.3(OCRL):c.1403A>G (p.Glu468Gly)	4952	OCRL	not provided	137853841	RCV000059592;	N	MedGen:C0028860,OMIM:309000,ORPHA:534,SNOMED CT:79385002	X	128701277	128701277	NM_000276.3:c.1403A>G	NP_000267.2:p.Glu468Gly	NC_000023.10:g.128701277A>G	UniProtKB (variants):VAR_064784	C0028860 309000 Lowe syndrome
NM_000276.3(OCRL):c.1493G>A (p.Cys498Tyr)	4952	OCRL	not provided	137853857	RCV000059594;	N	MedGen:C0028860,OMIM:309000,ORPHA:534,SNOMED CT:79385002	X	128703267	128703267	NM_000276.3:c.1493G>A	NP_000267.2:p.Cys498Tyr	NC_000023.10:g.128703267G>A	UniProtKB (variants):VAR_010178	C0028860 309000 Lowe syndrome
NM_000276.3(OCRL):c.1495G>C (p.Asp499His)	4952	OCRL	not provided	137853842	RCV000059595;	N	MedGen:C0028860,OMIM:309000,ORPHA:534,SNOMED CT:79385002	X	128703269	128703269	NM_000276.3:c.1495G>C	NP_000267.2:p.Asp499His	NC_000023.10:g.128703269G>C	UniProtKB (variants):VAR_064788	C0028860 309000 Lowe syndrome
NM_000276.3(OCRL):c.1499G>A (p.Arg500Gln)	4952	OCRL	Pathogenic	137853260	RCV000011605;	N	MedGen:C0028860,OMIM:309000,ORPHA:534,SNOMED CT:79385002	X	128703273	128703273	NM_000276.3:c.1499G>A	NP_000267.2:p.Arg500Gln	NC_000023.10:g.128703273G>A	OMIM Allelic Variant:300535.0003,UniProtKB (variants):VAR_010180	C0028860 309000 Lowe syndrome
NM_000276.3(OCRL):c.1505T>C (p.Leu502Pro)	4952	OCRL	Likely pathogenic	794727137	RCV000174838;	N	MedGen:C0028860,OMIM:309000,ORPHA:534,SNOMED CT:79385002	X	128703279	128703279	NM_000276.3:c.1505T>C	NP_000267.2:p.Leu502Pro	NC_000023.10:g.128703279T>C	-	C0028860 309000 Lowe syndrome
NM_000276.3(OCRL):c.1507T>C (p.Trp503Arg)	4952	OCRL	not provided	137853843	RCV000059596;	N	MedGen:C0028860,OMIM:309000,ORPHA:534,SNOMED CT:79385002	X	128703281	128703281	NM_000276.3:c.1507T>C	NP_000267.2:p.Trp503Arg	NC_000023.10:g.128703281T>C	UniProtKB (variants):VAR_064789	C0028860 309000 Lowe syndrome
NM_000276.3(OCRL):c.1523T>A (p.Val508Asp)	4952	OCRL	not provided	137853849	RCV000059597;	N	MedGen:C0028860,OMIM:309000,ORPHA:534,SNOMED CT:79385002	X	128703297	128703297	NM_000276.3:c.1523T>A	NP_000267.2:p.Val508Asp	NC_000023.10:g.128703297T>A	UniProtKB (variants):VAR_010181	C0028860 309000 Lowe syndrome
NM_000276.3(OCRL):c.1538A>G (p.Tyr513Cys)	4952	OCRL	not provided	137853847	RCV000059598;	N	MedGen:C0028860,OMIM:309000,ORPHA:534,SNOMED CT:79385002	X	128703312	128703312	NM_000276.3:c.1538A>G	NP_000267.2:p.Tyr513Cys	NC_000023.10:g.128703312A>G	UniProtKB (variants):VAR_010182	C0028860 309000 Lowe syndrome
NM_000276.3(OCRL):c.1566C>G (p.Ser522Arg)	4952	OCRL	not provided	137853853	RCV000059599;	N	MedGen:C0028860,OMIM:309000,ORPHA:534,SNOMED CT:79385002	X	128703340	128703340	NM_000276.3:c.1566C>G	NP_000267.2:p.Ser522Arg	NC_000023.10:g.128703340C>G	UniProtKB (variants):VAR_010183	C0028860 309000 Lowe syndrome
NM_000276.3(OCRL):c.1571A>G (p.His524Arg)	4952	OCRL	not provided	137853852	RCV000059600;	N	MedGen:C0028860,OMIM:309000,ORPHA:534,SNOMED CT:79385002	X	128703345	128703345	NM_000276.3:c.1571A>G	NP_000267.2:p.His524Arg	NC_000023.10:g.128703345A>G	UniProtKB (variants):VAR_010185	C0028860 309000 Lowe syndrome
NM_000276.3(OCRL):c.1572C>G (p.His524Gln)	4952	OCRL	Pathogenic	137853261	RCV000011606;	N	MedGen:C0028860,OMIM:309000,ORPHA:534,SNOMED CT:79385002	X	128703346	128703346	NM_000276.3:c.1572C>G	NP_000267.2:p.His524Gln	NC_000023.10:g.128703346C>G	OMIM Allelic Variant:300535.0004,UniProtKB (variants):VAR_010184	C0028860 309000 Lowe syndrome
NM_000276.3(OCRL):c.1577C>T (p.Pro526Leu)	4952	OCRL	not provided	137853858	RCV000059601;	N	MedGen:C0028860,OMIM:309000,ORPHA:534,SNOMED CT:79385002	X	128703351	128703351	NM_000276.3:c.1577C>T	NP_000267.2:p.Pro526Leu	NC_000023.10:g.128703351C>T	UniProtKB (variants):VAR_023958	C0028860 309000 Lowe syndrome
NM_000276.3(OCRL):c.1714-1G>A	4952	OCRL	Pathogenic	794727182	RCV000175133;	N	MedGen:C0028860,OMIM:309000,ORPHA:534,SNOMED CT:79385002	X	128709873	128709873	NM_000276.3:c.1714-1G>A		NC_000023.10:g.128709873G>A	-	C0028860 309000 Lowe syndrome
NM_000276.3(OCRL):c.1773C>A (p.Asn591Lys)	4952	OCRL	not provided	137853844	RCV000059602;	N	MedGen:C0028860,OMIM:309000,ORPHA:534,SNOMED CT:79385002	X	128709933	128709933	NM_000276.3:c.1773C>A	NP_000267.2:p.Asn591Lys	NC_000023.10:g.128709933C>A	UniProtKB (variants):VAR_064790	C0028860 309000 Lowe syndrome
NM_000276.3(OCRL):c.2299C>T (p.Gln767Ter)	4952	OCRL	Pathogenic	794727333	RCV000176153; RCV000176152;	N	MedGen:C0028860,OMIM:309000,ORPHA:534,SNOMED CT:79385002; MedGen:C1845167,OMIM:300555,ORPHA:93623	X	128722198	128722198	NM_000276.3:c.2299C>T	NP_000267.2:p.Gln767Ter	NC_000023.10:g.128722198C>T	-	C1845167 300555 Dent disease 2; C0028860 309000 Lowe syndrome
NM_000276.3(OCRL):c.2530C>T (p.Arg844Ter)	4952	OCRL	Pathogenic	387906484	RCV000011604;	N	MedGen:C0028860,OMIM:309000,ORPHA:534,SNOMED CT:79385002	X	128723882	128723882	NM_000276.3:c.2530C>T	NP_000267.2:p.Arg844Ter	NC_000023.10:g.128723882C>T	OMIM Allelic Variant:300535.0002	C0028860 309000 Lowe syndrome
NM_000276.3(OCRL):c.2563delG (p.Val855Serfs)	4952	OCRL	Pathogenic	398123288	RCV000176363; RCV000176362; RCV000078494;	N	MedGen:C0028860,OMIM:309000,ORPHA:534,SNOMED CT:79385002; MedGen:C1845167,OMIM:300555,ORPHA:93623; MedGen:CN221809	X	128723915	128723915	NM_000276.3:c.2563delG	NP_000267.2:p.Val855Serfs	NC_000023.10:g.128723915delG	-	C1845167 300555 Dent disease 2; C0028860 309000 Lowe syndrome; CN221809 not provided
NM_000276.3(OCRL):c.2582-1G>A	4952	OCRL	Pathogenic	398123289	RCV000176452; RCV000176451; RCV000078495;	N	MedGen:C0028860,OMIM:309000,ORPHA:534,SNOMED CT:79385002; MedGen:C1845167,OMIM:300555,ORPHA:93623; MedGen:CN221809	X	128724122	128724122	NM_000276.3:c.2582-1G>A		NC_000023.10:g.128724122G>A	HGMD:CS982297	C1845167 300555 Dent disease 2; C0028860 309000 Lowe syndrome; CN221809 not provided
NM_000276.3(OCRL):c.2672T>G (p.Leu891Arg)	4952	OCRL	not provided	137853845	RCV000059603;	N	MedGen:C0028860,OMIM:309000,ORPHA:534,SNOMED CT:79385002	X	128724213	128724213	NM_000276.3:c.2672T>G	NP_000267.2:p.Leu891Arg	NC_000023.10:g.128724213T>G	UniProtKB (variants):VAR_064794	C0028860 309000 Lowe syndrome