MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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: Congenital Microtia (D065817)
Parent Node: Growth Disorders (D006130)
Parent Node: Micrognathism (D008844)
..Starting node ..Meier-Gorlin syndrome (C538012)
Child Nodes:
Sister Nodes:
..Baetz-Greenwalt syndrome (C537795)
..Bird headed dwarfism Montreal type (C535448)
..Cerebral Cavernous Malformations 2 (C566394)
..Cerebral Cavernous Malformations 3 (C566393)
..Cerebrocostomandibular Syndrome (C562538)
..Clavicular Hypoplasia, Zygomatic Arch Hypoplasia, and Micrognathia (C565729)
..Coffin-Siris syndrome (C536436)
..Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia (C564509)
..Crumpled helices and small mouth (C536217)
..Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia (C563344)
..Genee-Wiedemann syndrome (C537680)
..Genito palato cardiac syndrome (C537683)
..Ho Kaufman Mcalister syndrome (C538325)
..Limb Deficiencies, Distal, with Micrognathia (C565437)
..Meier-Gorlin syndrome (C538012)
..Milner Khallouf Gibson syndrome (C537473)
..Multiple Epiphyseal Dysplasia with Robin Phenotype (C563291)
..Schweitzer Kemink Graham syndrome (C536511)
..Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet (C564759)
..Yunis Varon syndrome (C536719)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

7564

Name:

Meier-Gorlin syndrome

Definition:

Alternative IDs:

ParentIDs:

MESH:D006130|MESH:D008844|MESH:D065817

TreeNumbers:

C05.500.460.457/C538012 |C05.660.207.540.460.457/C538012 |C07.320.440.457/C538012 |C07.650.500.460.457/C538012 |C09.218.235/C538012 |C16.131.287/C538012 |C16.131.621.207.540.460.457/C538012 |C16.131.850.500.460.457/C538012 |C23.550.393/C538012

Synonyms:

Slim Mappings:

Congenital abnormality|Ear-nose-throat disease|Mouth disease|Musculoskeletal disease|Pathology (process)

Reference:

MedGen: C538012
MeSH: C538012
OMIM: 224690;
MSeqDR :
Genes: CDC6; CDT1; ORC1; ORC4; ORC6;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002644	Abnormality of pelvic girdle bone morphology
3	HP:0006591	Absent glenoid fossa
4	HP:0006628	Absent sternal ossification
5	HP:0006498	Aplasia/Hypoplasia of the patella
6	HP:0000413	Atresia of the external auditory canal
7	HP:0003561	Birth length less than 3rd percentile
8	HP:0000581	Blepharophimosis
9	HP:0003187	Breast hypoplasia
10	HP:0001623	Breech presentation
11	HP:0012385	Camptodactyly
12	HP:0000175	Cleft palate
13	HP:0004209	Clinodactyly of the 5th finger
14	HP:0008665	Clitoral hypertrophy
15	HP:0000028	Cryptorchidism
16	HP:0010554	Cutaneous finger syndactyly
17	HP:0002750	Delayed skeletal maturation
18	HP:0003042	Elbow dislocation
19	HP:0001508	Failure to thrive
20	HP:0008872	Feeding difficulties in infancy
21	HP:0000911	Flat glenoid fossa
22	HP:0002007	Frontal bossing
23	HP:0002020	Gastroesophageal reflux
24	HP:0002857	Genu valgum
25	HP:0002970	Genu varum
26	HP:0000365	Hearing impairment
27	HP:0002937	Hemivertebrae
28	HP:0001425	Heterogeneous
29	HP:0000218	High palate
30	HP:0001795	Hyperconvex nail
31	HP:0000327	Hypoplasia of the maxilla
32	HP:0000059	Hypoplastic labia majora
33	HP:0000064	Hypoplastic labia minora
34	HP:0000376	Incomplete partition of the cochlea type II
35	HP:0001249	Intellectual disability
36	HP:0001511	Intrauterine growth retardation
37	HP:0009473	Joint contracture of the hand
38	HP:0001388	Joint laxity
39	HP:0000895	Lateral clavicle hook
40	HP:0000527	Long eyelashes
41	HP:0000369	Low-set ears
42	HP:0000252	Microcephaly
43	HP:0000691	Microdontia
44	HP:0000347	Micrognathia
45	HP:0000054	Micropenis
46	HP:0008551	Microtia
47	HP:0000160	Narrow mouth
48	HP:0000768	Pectus carinatum
49	HP:0002098	Respiratory distress
50	HP:0000049	Shawl scrotum
51	HP:0004279	Short palm
52	HP:0012745	Short palpebral fissure
53	HP:0000773	Short ribs
54	HP:0003100	Slender long bone
55	HP:0000237	Small anterior fontanelle
56	HP:0001518	Small for gestational age
57	HP:0200055	Small hand
58	HP:0000486	Strabismus
59	HP:0001762	Talipes equinovarus
60	HP:0000179	Thick lower lip vermilion
61	HP:0000883	Thin ribs
62	HP:0000963	Thin skin

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_003504.5(CDC45):c.1357G>A (p.Gly453Ser)	8318	CDC45	Conflicting interpretations of pathogenicity	148062883	RCV001848604\|RCV002034769\|RCV003446927;	N	MONDO:MONDO:0018923,MedGen:CN294181, Orphanet:567; MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554\|MedGen:C3661900\|MONDO:MONDO:0019154,MedGen:C0039585,OMIM:300068, Orphanet:754, Orphanet:99429	22	19502488	19502488	19502488	-
NM_017613.4(DONSON):c.631C>G (p.Arg211Gly)	29980	DONSON	Uncertain significance	774052186	RCV001533011;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554	21	34957050	34957050	34957050	-
NM_017613.4(DONSON):c.48del (p.Glu17fs)	29980	DONSON	Likely pathogenic	2145910302	RCV001533010;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554	21	34960900	34960900	34960899	-
NM_001190818.1(ORC1):c.2392-249_*3804del	4998	ORC1	Pathogenic	-1	RCV001527374;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554	1	52835048	52839295	52835047	-
NM_004153.4(ORC1):c.*231C>T	4998	ORC1	Benign	3087471	RCV000291923\|RCV001707627;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554\|MedGen:C3661900	1	52838622	52838622	NC_000001.10:g.52838622G>A	ClinGen:CA10611213	C1868684 Meier-Gorlin syndrome;
NM_004153.4(ORC1):c.*226G>C	4998	ORC1	Uncertain significance	886046395	RCV000339905;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554	1	52838627	52838627	NC_000001.10:g.52838627C>G	ClinGen:CA10611357	C1868684 Meier-Gorlin syndrome;
NM_004153.4(ORC1):c.*94C>T	4998	ORC1	Uncertain significance	574908976	RCV000402493;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554	1	52838759	52838759	NC_000001.10:g.52838759G>A	ClinGen:CA10610418	C1868684 Meier-Gorlin syndrome;
NM_004153.4(ORC1):c.2580C>T (p.Asp860=)	4998	ORC1	Conflicting interpretations of pathogenicity	61756139	RCV000872701\|RCV001096520;	N	MedGen:C3661900\|MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554	1	52838859	52838859	1:g.52838859G>A	-
NM_004153.4(ORC1):c.2570C>T (p.Ala857Val)	4998	ORC1	Uncertain significance	184915457	RCV001096521\|RCV002554896;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554\|MedGen:CN517202	1	52838869	52838869	1:g.52838869G>A	-
NM_004153.4(ORC1):c.2536C>T (p.Arg846Trp)	4998	ORC1	Uncertain significance	767264406	RCV001096522;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554	1	52838903	52838903	1:g.52838903G>A	-
NM_004153.4(ORC1):c.2447T>C (p.Met816Thr)	4998	ORC1	Benign	34521609	RCV000117877\|RCV000304858\|RCV001511695;	N	MedGen:CN169374\|MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554\|MedGen:C3661900	1	52838992	52838992	1:g.52838992A>G	UniProtKB:Q13415#VAR_050426,ClinGen:CA154200	C1868684 Meier-Gorlin syndrome;
NM_004153.4(ORC1):c.2435C>T (p.Pro812Leu)	4998	ORC1	Uncertain significance	1222973227	RCV001096523;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554	1	52839004	52839004	1:g.52839004G>A	-
NM_004153.4(ORC1):c.2427G>A (p.Glu809=)	4998	ORC1	Benign	77077945	RCV000117876\|RCV000353104\|RCV001518251;	N	MedGen:CN169374\|MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554\|MedGen:C3661900	1	52839012	52839012	1:g.52839012C>T	ClinGen:CA154198	C1868684 Meier-Gorlin syndrome;
NM_004153.4(ORC1):c.2418C>T (p.Cys806=)	4998	ORC1	Uncertain significance	1485646346	RCV001098264;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554	1	52839021	52839021	1:g.52839021G>A	-
NM_004153.4(ORC1):c.2404C>T (p.His802Tyr)	4998	ORC1	Uncertain significance	886046396	RCV000397459;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554	1	52839035	52839035	NC_000001.10:g.52839035G>A	ClinGen:CA10610083	C1868684 Meier-Gorlin syndrome;
NM_004153.4(ORC1):c.2382G>A (p.Thr794=)	4998	ORC1	Conflicting interpretations of pathogenicity	146844078	RCV000299439\|RCV002059487;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554\|MedGen:C3661900	1	52840491	52840491	NC_000001.10:g.52840491C>T	ClinGen:CA853043	C1868684 Meier-Gorlin syndrome;
NM_004153.4(ORC1):c.2314G>A (p.Val772Ile)	4998	ORC1	Benign/Likely benign	61753389	RCV000509535\|RCV000501625\|RCV000870938;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554\|MedGen:CN169374\|MedGen:C3661900	1	52840559	52840559	NC_000001.10:g.52840559C>T	ClinGen:CA853057	C1868684 Meier-Gorlin syndrome;
NM_004153.4(ORC1):c.2303+10T>C	4998	ORC1	Uncertain significance	748117291	RCV001098265;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554	1	52841092	52841092	1:g.52841092A>G	-
NM_004153.4(ORC1):c.2226C>A (p.Ser742=)	4998	ORC1	Benign/Likely benign	34644009	RCV000503389\|RCV000865446\|RCV001098266;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554	1	52841179	52841179	NC_000001.10:g.52841179G>T	ClinGen:CA853092	CN169374 not specified;
NM_004153.4(ORC1):c.2221_2224dup (p.Ser742Ter)	4998	ORC1	Conflicting interpretations of pathogenicity	1557567563	RCV000778985\|RCV001386973;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554\|MedGen:CN517202	1	52841180	52841181	NC_000001.10:g.52841183_52841186dup	-
NM_004153.4(ORC1):c.2162G>A (p.Arg721Gln)	4998	ORC1	Conflicting interpretations of pathogenicity	142127656	RCV000870838\|RCV003132112;	N	MedGen:C3661900\|MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554	1	52841243	52841243	1:g.52841243C>T	-
NM_004153.4(ORC1):c.2159G>A (p.Arg720Gln)	4998	ORC1	Likely pathogenic	387906828	RCV000023157\|RCV001818177;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554\|MedGen:C3661900	1	52841246	52841246	1:g.52841246C>T	ClinGen:CA129047,UniProtKB:Q13415#VAR_065485,OMIM:601902.0004	CN030358 224690 Meier-Gorlin syndrome 1;
NM_004153.4(ORC1):c.1999_2000delinsA (p.Val667fs)	4998	ORC1	Pathogenic	1557573504	RCV000023158;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554	1	52849105	52849106	NC_000001.10:g.52849105_52849106delinsT	OMIM:601902.0005	CN030358 224690 Meier-Gorlin syndrome 1;
NM_004153.4(ORC1):c.1996C>T (p.Arg666Trp)	4998	ORC1	Uncertain significance	201253919	RCV000023160\|RCV001852014;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554\|MedGen:C3661900	1	52849109	52849109	1:g.52849109G>A	ClinGen:CA129049,UniProtKB:Q13415#VAR_065484,OMIM:601902.0007	CN030358 224690 Meier-Gorlin syndrome 1;
NM_004153.4(ORC1):c.1964C>T (p.Thr655Ile)	4998	ORC1	Uncertain significance	1569920188	RCV000791113;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554	1	52849141	52849141	1:g.52849141G>A	-
NM_004153.4(ORC1):c.1865T>C (p.Leu622Pro)	4998	ORC1	Pathogenic	2147923128	RCV001527357;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554	1	52849240	52849240	52849240	-
NM_004153.4(ORC1):c.1819A>G (p.Thr607Ala)	4998	ORC1	Conflicting interpretations of pathogenicity	139027440	RCV000273625\|RCV000871104\|RCV001820857;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554\|MedGen:C3661900\|MedGen:CN169374	1	52849546	52849546	NC_000001.10:g.52849546T>C	ClinGen:CA853202	C1868684 Meier-Gorlin syndrome;
NM_004153.4(ORC1):c.1745A>G (p.Gln582Arg)	4998	ORC1	Benign/Likely benign	547441862	RCV000896822\|RCV001098267;	N	MedGen:C3661900\|MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554	1	52850232	52850232	1:g.52850232T>C	-
NM_004153.4(ORC1):c.1707T>C (p.Asn569=)	4998	ORC1	Conflicting interpretations of pathogenicity	376619175	RCV000872383\|RCV001100035;	N	MedGen:C3661900\|MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554	1	52850270	52850270	1:g.52850270A>G	-
NM_004153.4(ORC1):c.1671C>T (p.Ala557=)	4998	ORC1	Conflicting interpretations of pathogenicity	61756137	RCV000330981\|RCV000905283;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554\|MedGen:C3661900	1	52850306	52850306	NC_000001.10:g.52850306G>A	ClinGen:CA853246	C1868684 Meier-Gorlin syndrome;
NM_004153.4(ORC1):c.1645C>T (p.Arg549Cys)	4998	ORC1	Uncertain significance	148581880	RCV001100036\|RCV002556023\|RCV001856357;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554\|MeSH:D030342,MedGen:C0950123\|MedGen:CN517202	1	52850332	52850332	1:g.52850332G>A	-
NM_004153.4(ORC1):c.1584-4C>G	4998	ORC1	Benign	114617697	RCV000369286\|RCV000871696;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554\|MedGen:C3661900	1	52850397	52850397	NC_000001.10:g.52850397G>C	ClinGen:CA853265	C1868684 Meier-Gorlin syndrome;
NM_004153.4(ORC1):c.1582G>A (p.Gly528Arg)	4998	ORC1	Uncertain significance	1647126216	RCV001329179;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554	1	52850834	52850834	52850834	-
NM_004153.4(ORC1):c.1482-2A>G	4998	ORC1	Pathogenic	1378348220	RCV000023159;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554	1	52850936	52850936	NC_000001.10:g.52850936T>C	OMIM:601902.0006	CN030358 224690 Meier-Gorlin syndrome 1;
NM_004153.4(ORC1):c.1466A>T (p.Glu489Val)	4998	ORC1	Uncertain significance	141749112	RCV001100037\|RCV002554951\|RCV002558008;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	1	52851539	52851539	1:g.52851539T>A	-
NM_004153.4(ORC1):c.1430G>A (p.Arg477Gln)	4998	ORC1	Uncertain significance	886046397	RCV000277078\|RCV002520499;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554\|MeSH:D030342,MedGen:C0950123	1	52851575	52851575	NC_000001.10:g.52851575C>T	ClinGen:CA10610425	C1868684 Meier-Gorlin syndrome;
NM_004153.4(ORC1):c.1406G>A (p.Cys469Tyr)	4998	ORC1	Benign	3087483	RCV000117874\|RCV000325263\|RCV000864304;	N	MedGen:CN169374\|MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554\|MedGen:C3661900	1	52851599	52851599	1:g.52851599C>T	ClinGen:CA154196,UniProtKB:Q13415#VAR_014514	C1868684 Meier-Gorlin syndrome;
NM_004153.4(ORC1):c.1405T>C (p.Cys469Arg)	4998	ORC1	Conflicting interpretations of pathogenicity	144848215	RCV000907437\|RCV001100038;	N	MedGen:C3661900\|MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554	1	52851600	52851600	1:g.52851600A>G	-
NM_004153.4(ORC1):c.1397C>T (p.Thr466Met)	4998	ORC1	Benign	3087481	RCV000117873\|RCV000382251\|RCV001514775;	N	MedGen:CN169374\|MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554\|MedGen:C3661900	1	52851608	52851608	1:g.52851608G>A	ClinGen:CA154194,UniProtKB:Q13415#VAR_014513	C1868684 Meier-Gorlin syndrome;
NM_004153.4(ORC1):c.1383T>C (p.Ser461=)	4998	ORC1	Uncertain significance	200773796	RCV001102025\|RCV001873497;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554\|MedGen:CN517202	1	52854114	52854114	1:g.52854114A>G	-
NM_004153.4(ORC1):c.1318T>C (p.Ser440Pro)	4998	ORC1	Conflicting interpretations of pathogenicity	61756136	RCV000193217\|RCV000994001\|RCV001102026;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554	1	52854179	52854179	1:g.52854179A>G	ClinGen:CA206551	CN169374 not specified;
NM_004153.4(ORC1):c.1284A>C (p.Thr428=)	4998	ORC1	Uncertain significance	776642973	RCV000290191;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554	1	52854213	52854213	NC_000001.10:g.52854213T>G	ClinGen:CA853380	C1868684 Meier-Gorlin syndrome;
NM_004153.4(ORC1):c.1196G>A (p.Gly399Asp)	4998	ORC1	Uncertain significance	201805499	RCV001102027\|RCV001856392;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554\|MedGen:C3661900	1	52854301	52854301	1:g.52854301C>T	-
NM_004153.4(ORC1):c.1186C>T (p.Arg396Trp)	4998	ORC1	Benign/Likely benign	114426997	RCV000194995\|RCV000873965\|RCV001102028;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554	1	52854890	52854890	1:g.52854890G>A	ClinGen:CA209539	CN169374 not specified;
NM_004153.4(ORC1):c.1139G>T (p.Arg380Leu)	4998	ORC1	Uncertain significance	576163345	RCV000328770;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554	1	52854937	52854937	NC_000001.10:g.52854937C>A	ClinGen:CA853420	C1868684 Meier-Gorlin syndrome;
NM_004153.4(ORC1):c.1115C>T (p.Ala372Val)	4998	ORC1	Benign	3087476	RCV000117871\|RCV001102029\|RCV001512736;	N	MedGen:CN169374\|MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554\|MedGen:C3661900	1	52854961	52854961	1:g.52854961G>A	ClinGen:CA154190,UniProtKB:Q13415#VAR_014510	CN169374 not specified;
NM_004153.4(ORC1):c.1025G>T (p.Gly342Val)	4998	ORC1	Uncertain significance	1300402859	RCV001096624;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554	1	52859172	52859172	1:g.52859172C>A	-
NM_004153.4(ORC1):c.934C>T (p.Pro312Ser)	4998	ORC1	Uncertain significance	772037188	RCV001336639;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554	1	52859263	52859263	52859263	-
NM_004153.4(ORC1):c.911C>T (p.Thr304Ile)	4998	ORC1	Uncertain significance	994616612	RCV001096625;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554	1	52859286	52859286	1:g.52859286G>A	-
NM_004153.4(ORC1):c.808G>A (p.Glu270Lys)	4998	ORC1	Uncertain significance	1291867337	RCV001096626;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554	1	52859389	52859389	1:g.52859389C>T	-
NM_004153.4(ORC1):c.806C>T (p.Ser269Leu)	4998	ORC1	Benign/Likely benign	61753390	RCV000117881\|RCV000376527\|RCV000870516;	N	MedGen:CN169374\|MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554\|MedGen:C3661900	1	52859391	52859391	1:g.52859391G>A	ClinGen:CA154204	C1868684 Meier-Gorlin syndrome;
NM_004153.4(ORC1):c.688dup (p.Thr230fs)	4998	ORC1	Likely pathogenic	-1	RCV003147896;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554	1	52861750	52861751		-
NM_004153.4(ORC1):c.608C>T (p.Thr203Ile)	4998	ORC1	Uncertain significance	202095223	RCV000500202\|RCV000660447\|RCV001857137;	N	MedGen:CN169374\|MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554\|MedGen:CN517202	1	52861831	52861831	NC_000001.10:g.52861831G>A	ClinGen:CA853553	CN030358 224690 Meier-Gorlin syndrome 1;
NM_004153.4(ORC1):c.568G>A (p.Val190Met)	4998	ORC1	Benign	3087477	RCV000117880\|RCV000284372\|RCV000870508;	N	MedGen:CN169374\|MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554\|MedGen:C3661900	1	52861871	52861871	1:g.52861871C>T	ClinGen:CA154202,UniProtKB:Q13415#VAR_014509	C1868684 Meier-Gorlin syndrome;
NM_004153.4(ORC1):c.556T>C (p.Cys186Arg)	4998	ORC1	Uncertain significance	760479580	RCV001096627\|RCV003160617;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554\|MeSH:D030342,MedGen:C0950123	1	52861883	52861883	1:g.52861883A>G	-
NM_004153.4(ORC1):c.540A>C (p.Gln180His)	4998	ORC1	Benign	3087482	RCV000515091\|RCV001096628;	N	MedGen:C3661900\|MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554	1	52861899	52861899	1:g.52861899T>G	ClinGen:CA853567	CN517202 not provided;
NM_004153.4(ORC1):c.535C>A (p.Pro179Thr)	4998	ORC1	Uncertain significance	753124340	RCV000341764;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554	1	52861904	52861904	NC_000001.10:g.52861904G>T	ClinGen:CA853569	C1868684 Meier-Gorlin syndrome;
NM_004153.4(ORC1):c.435G>A (p.Pro145=)	4998	ORC1	Uncertain significance	886046398	RCV000380079;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554	1	52862004	52862004	NC_000001.10:g.52862004C>T	ClinGen:CA10610086	C1868684 Meier-Gorlin syndrome;
NM_004153.4(ORC1):c.403-2A>C	4998	ORC1	Pathogenic	2147941262	RCV001784771;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554	1	52862038	52862038	52862038	-
NM_004153.4(ORC1):c.403-7A>C	4998	ORC1	Conflicting interpretations of pathogenicity	199834691	RCV000193149\|RCV000286826\|RCV000864586;	N	MedGen:CN169374\|MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554\|MedGen:C3661900	1	52862043	52862043	1:g.52862043T>G	ClinGen:CA206442	C1868684 Meier-Gorlin syndrome;
NM_004153.4(ORC1):c.402+12C>T	4998	ORC1	Benign/Likely benign	138085865	RCV001098348\|RCV002067749;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554\|MedGen:C3661900	1	52863345	52863345	1:g.52863345G>A	-
NM_004153.4(ORC1):c.392G>T (p.Gly131Val)	4998	ORC1	Uncertain significance	886046399	RCV000341759;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554	1	52863367	52863367	NC_000001.10:g.52863367C>A	ClinGen:CA10610087	C1868684 Meier-Gorlin syndrome;
NM_004153.4(ORC1):c.387C>T (p.Ile129=)	4998	ORC1	Conflicting interpretations of pathogenicity	886046400	RCV000406590\|RCV001820858;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554\|MedGen:CN169374	1	52863372	52863372	NC_000001.10:g.52863372G>A	ClinGen:CA10610428	C1868684 Meier-Gorlin syndrome;
NM_004153.4(ORC1):c.380A>G (p.Glu127Gly)	4998	ORC1	Pathogenic	387906826	RCV000023154;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554	1	52863379	52863379	1:g.52863379T>C	ClinGen:CA129041,UniProtKB:Q13415#VAR_065483,OMIM:601902.0001	CN030358 224690 Meier-Gorlin syndrome 1;
NM_004153.4(ORC1):c.314G>A (p.Arg105Gln)	4998	ORC1	Pathogenic/Likely pathogenic	143141689	RCV000023156\|RCV000302017\|RCV001382828;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554\|MONDO:MONDO:0016817,MedGen:C1868684,OMIM:PS224690, Orphanet:2554\|MedGen:C3661900	1	52863445	52863445	1:g.52863445C>T	ClinGen:CA129045,UniProtKB:Q13415#VAR_065482,OMIM:601902.0003	C1868684 Meier-Gorlin syndrome;
NM_004153.4(ORC1):c.313C>T (p.Arg105Trp)	4998	ORC1	Likely pathogenic	778980446	RCV001375044;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554	1	52863446	52863446	52863446	-
NM_004153.4(ORC1):c.289G>T (p.Ala97Ser)	4998	ORC1	Uncertain significance	370667339	RCV001098349\|RCV002554923;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554\|MedGen:CN517202	1	52863470	52863470	1:g.52863470C>A	-
NM_004153.4(ORC1):c.266T>C (p.Phe89Ser)	4998	ORC1	Conflicting interpretations of pathogenicity	387906827	RCV000023155\|RCV002513182\|RCV003398563;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554\|MedGen:C3661900\|	1	52863493	52863493	1:g.52863493A>G	UniProtKB:Q13415#VAR_065481,OMIM:601902.0002,ClinGen:CA129043	CN030358 224690 Meier-Gorlin syndrome 1;
NM_004153.4(ORC1):c.237del (p.Pro80fs)	4998	ORC1	Pathogenic	1647490038	RCV001336638;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554	1	52863522	52863522	NC_000001.10:g.52863522del	-
NM_004153.4(ORC1):c.217G>A (p.Glu73Lys)	4998	ORC1	Pathogenic	373671398	RCV001527375;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554	1	52867040	52867040	52867040	-
NM_004153.4(ORC1):c.189G>T (p.Pro63=)	4998	ORC1	Benign/Likely benign	201244952	RCV001098350\|RCV001510609;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554\|MedGen:C3661900	1	52867068	52867068	1:g.52867068C>A	-
NM_004153.4(ORC1):c.151C>G (p.Gln51Glu)	4998	ORC1	Conflicting interpretations of pathogenicity	182707743	RCV001100137\|RCV001414367;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554\|MedGen:C3661900	1	52867106	52867106	1:g.52867106G>C	-
NM_004153.4(ORC1):c.57G>C (p.Arg19Ser)	4998	ORC1	Benign/Likely benign	3087473	RCV000246237\|RCV000347437\|RCV000513920;	N	MedGen:CN169374\|MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554\|MedGen:C3661900	1	52867839	52867839	NC_000001.10:g.52867839C>G	ClinGen:CA853695,UniProtKB:Q13415#VAR_014507	C1868684 Meier-Gorlin syndrome;
NM_004153.4(ORC1):c.-5-12A>T	4998	ORC1	Uncertain significance	983776269	RCV001100138;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554	1	52867912	52867912	1:g.52867912T>A	-
NM_004153.4(ORC1):c.-178C>T	4998	ORC1	Uncertain significance	1647890881	RCV001100139;	N	MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690, Orphanet:2554	1	52870090	52870090	1:g.52870090G>A	-

MSeqDR Portal

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen