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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: Craniofacial Abnormalities (D019465)
Parent Node: Ectromelia (D004480)
Parent Node: Hypertelorism (D006972)
..Starting node ..Roberts Syndrome (C535687)
Child Nodes:
Sister Nodes:
..Acrootoocular Syndrome (C564866)
..Atrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects (C566351)
..Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
..Bagatelle Cassidy syndrome (C537796)
..Barber Say syndrome (C537908)
..Brachycephalofrontonasal dysplasia (C537085)
..Camptodactyly Syndrome, Guadalajara, Type II (C567138)
..Camptodactyly Syndrome, Guadalajara, Type III (C567455)
..Chromosome 6pter-P24 Deletion Syndrome (C567239)
..De Hauwere Leroy Adriaenssens syndrome (C535991)
..Facial Abnormalities, Kyphoscoliosis, and Mental Retardation (C565580)
..FRONTONASAL DYSPLASIA 1 (OMIM:136760)
..FRONTONASAL DYSPLASIA 2 (OMIM:613451)
..FRONTONASAL DYSPLASIA 3 (OMIM:613456)
..Gastrocutaneous syndrome (C535651)
..Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness (C565518)
..HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
..Hypertelorism and tetralogy of Fallot (C538386)
..Hypertelorism with esophageal abnormality and hypospadias (C538387)
..HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS (OMIM:614187)
..Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility (C566988)
..Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss (C566373)
..Krauss Herman Holmes syndrome (C537618)
..Marles Greenberg Persaud syndrome (C536022)
..Naguib-Richieri-Costa syndrome (C538332)
..Opitz GBBB Syndrome, X-Linked (C567932)
..Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia (C564881)
..Roberts Syndrome (C535687)
..Santos Mateus Leal syndrome (C537235)
..Schwartz-Lelek syndrome (C537519)
..Seaver Cassidy syndrome (C537529)
..Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations (C567475)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9883

Name:

Roberts Syndrome

Definition:

Alternative IDs:

OMIM:268300|OMIM:269000

ParentIDs:

MESH:D004480|MESH:D006972|MESH:D019465

TreeNumbers:

C05.116.099.370.231.480/C535687 |C05.660.207.231.480/C535687 |C05.660.207/C535687 |C05.660.585.350/C535687 |C16.131.621.207.231.480/C535687 |C16.131.621.207/C535687 |C16.131.621.585.350/C535687

Synonyms:

Slim Mappings:

Congenital abnormality|Musculoskeletal disease

Reference:

MedGen: C535687
MeSH: C535687
OMIM: 268300;

Genes: ESCO2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001163	Abnormality of the metacarpal bones
3	HP:0000387	Absent earlobe
4	HP:0001747	Accessory spleen
5	HP:0006466	Ankle flexion contracture
6	HP:0001631	Atrial septal defect
7	HP:0000813	Bicornuate uterus
8	HP:0001080	Biliary tract abnormality
9	HP:0000592	Blue sclerae
10	HP:0000248	Brachycephaly
11	HP:0001156	Brachydactyly
12	HP:0000957	Cafe-au-lait spot
13	HP:0000518	Cataract
14	HP:0000175	Cleft palate
15	HP:0000204	Cleft upper lip
16	HP:0030084	Clinodactyly
17	HP:0008665	Clitoral hypertrophy
18	HP:0006824	Cranial nerve paralysis
19	HP:0001363	Craniosynostosis
20	HP:0000028	Cryptorchidism
21	HP:0000476	Cystic hygroma
22	HP:0000494	Downslanted palpebral fissures
23	HP:0002987	Elbow flexion contracture
24	HP:0008683	Enlarged labia minora
25	HP:0000625	Eyelid coloboma
26	HP:0007330	Frontal encephalocele
27	HP:0001180	Hand oligodactyly
28	HP:0000218	High palate
29	HP:0000085	Horseshoe kidney
30	HP:0000238	Hydrocephalus
31	HP:0000316	Hypertelorism
32	HP:0000047	Hypospadias
33	HP:0001249	Intellectual disability
34	HP:0006380	Knee flexion contracture
35	HP:0000040	Long penis
36	HP:0000369	Low-set ears
37	HP:0000272	Malar flattening
38	HP:0000252	Microcephaly
39	HP:0000347	Micrognathia
40	HP:0000568	Microphthalmia
41	HP:0007452	Midface capillary hemangioma
42	HP:0009933	Narrow naris
43	HP:0007759	Opacification of the corneal stroma
44	HP:0001643	Patent ductus arteriosus
45	HP:0000113	Polycystic kidney dysplasia
46	HP:0001561	Polyhydramnios
47	HP:0000358	Posteriorly rotated ears
48	HP:0008897	Postnatal growth retardation
49	HP:0003616	Premature separation of centromeric heterochromatin
50	HP:0000520	Proptosis
51	HP:0009466	Radial deviation of finger
52	HP:0008846	Severe intrauterine growth retardation
53	HP:0000586	Shallow orbits
54	HP:0000470	Short neck
55	HP:0008070	Sparse hair
56	HP:0003826	Stillbirth	HP:0040283
57	HP:0001159	Syndactyly
58	HP:0001772	Talipes equinovalgus
59	HP:0030721	Tetraphocomelia
60	HP:0000430	Underdeveloped nasal alae
61	HP:0001629	Ventricular septal defect
62	HP:0000431	Wide nasal bridge
63	HP:0001239	Wrist flexion contracture

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
NM_001017420.2(ESCO2):c.239C>T (p.Ala80Val)	157570	ESCO2	Benign	4732748	RCV000020402; RCV000145966;	N	MedGen:C0392475,OMIM:268300,OMIM:269000,ORPHA:3103,SNOMED CT:48718006; MedGen:CN169374	8	27634064	27634064	NM_001017420.2:c.239C>T	NP_001017420.1:p.Ala80Val	NC_000008.10:g.27634064C>T	-	CN169374 not specified; C0392475 268300 Roberts-SC phocomelia syndrome; C0392475 269000 Roberts-SC phocomelia syndrome
NM_001017420.2(ESCO2):c.252_253delAT (p.Ser85Phefs)	157570	ESCO2	Pathogenic	80359844	RCV000020403;	N	MedGen:C0392475,OMIM:268300,OMIM:269000,ORPHA:3103,SNOMED CT:48718006	8	27634077	27634078	NM_001017420.2:c.252_253delAT	NP_001017420.1:p.Ser85Phefs	NC_000008.10:g.27634077_27634078delAT	-	C0392475 268300 Roberts-SC phocomelia syndrome; C0392475 269000 Roberts-SC phocomelia syndrome
NM_001017420.2(ESCO2):c.294_297delGAGA (p.Arg99Serfs)	157570	ESCO2	Pathogenic	80359845	RCV000020404;	N	MedGen:C0392475,OMIM:268300,OMIM:269000,ORPHA:3103,SNOMED CT:48718006	8	27634119	27634122	NM_001017420.2:c.294_297delGAGA	NP_001017420.1:p.Arg99Serfs	NC_000008.10:g.27634119_27634122delGAGA	-	C0392475 268300 Roberts-SC phocomelia syndrome; C0392475 269000 Roberts-SC phocomelia syndrome
NM_001017420.2(ESCO2):c.307_311delAAAGA (p.Lys103Glufs)	157570	ESCO2	Pathogenic	80359846	RCV000020405;	N	MedGen:C0392475,OMIM:268300,OMIM:269000,ORPHA:3103,SNOMED CT:48718006	8	27634132	27634136	NM_001017420.2:c.307_311delAAAGA	NP_001017420.1:p.Lys103Glufs	NC_000008.10:g.27634132_27634136delAAAGA	-	C0392475 269000 Roberts-SC phocomelia syndrome; C0392475 268300 Roberts-SC phocomelia syndrome
NM_001017420.2(ESCO2):c.308_309delAA (p.Lys103Argfs)	157570	ESCO2	Pathogenic	80359847	RCV000020406;	N	MedGen:C0392475,OMIM:268300,OMIM:269000,ORPHA:3103,SNOMED CT:48718006	8	27634133	27634134	NM_001017420.2:c.308_309delAA	NP_001017420.1:p.Lys103Argfs	NC_000008.10:g.27634133_27634134delAA	-	C0392475 268300 Roberts-SC phocomelia syndrome; C0392475 269000 Roberts-SC phocomelia syndrome
NM_001017420.2(ESCO2):c.383G>A (p.Gly128Glu)	157570	ESCO2	Uncertain significance	557813179	RCV000145967;	N	MedGen:C0392475,OMIM:268300,OMIM:269000,ORPHA:3103,SNOMED CT:48718006	8	27634208	27634208	NM_001017420.2:c.383G>A	NP_001017420.1:p.Gly128Glu	NC_000008.10:g.27634208G>A	-	C0392475 269000 Roberts-SC phocomelia syndrome; C0392475 268300 Roberts-SC phocomelia syndrome
NM_001017420.2(ESCO2):c.417dupA (p.Pro140Thrfs)	157570	ESCO2	Pathogenic	80359848	RCV000020407;	N	MedGen:C0392475,OMIM:268300,OMIM:269000,ORPHA:3103,SNOMED CT:48718006	8	27634242	27634242	NM_001017420.2:c.417dupA	NP_001017420.1:p.Pro140Thrfs	NC_000008.10:g.27634242dupA	-	C0392475 269000 Roberts-SC phocomelia syndrome; C0392475 268300 Roberts-SC phocomelia syndrome
NM_001017420.2(ESCO2):c.505C>T (p.Arg169Ter)	157570	ESCO2	Pathogenic	80359849	RCV000001806;	N	MedGen:C0392475,OMIM:268300,OMIM:269000,ORPHA:3103,SNOMED CT:48718006	8	27634330	27634330	NM_001017420.2:c.505C>T	NP_001017420.1:p.Arg169Ter	NC_000008.10:g.27634330C>T	OMIM Allelic Variant:609353.0002	C0392475 269000 Roberts-SC phocomelia syndrome; C0392475 268300 Roberts-SC phocomelia syndrome
NM_001017420.2(ESCO2):c.604C>T (p.Gln202Ter)	157570	ESCO2	Pathogenic	80359850	RCV000001810;	N	MedGen:C0392475,OMIM:268300,OMIM:269000,ORPHA:3103,SNOMED CT:48718006	8	27634429	27634429	NM_001017420.2:c.604C>T	NP_001017420.1:p.Gln202Ter	NC_000008.10:g.27634429C>T	OMIM Allelic Variant:609353.0006	C0392475 268300 Roberts-SC phocomelia syndrome; C0392475 269000 Roberts-SC phocomelia syndrome
NM_001017420.2(ESCO2):c.648A>G (p.Lys216=)	157570	ESCO2	Uncertain significance	587783624	RCV000145968;	N	MedGen:C0392475,OMIM:268300,OMIM:269000,ORPHA:3103,SNOMED CT:48718006	8	27634473	27634473	NM_001017420.2:c.648A>G	NP_001017420.1:p.Lys216=	NC_000008.10:g.27634473A>G	-	C0392475 269000 Roberts-SC phocomelia syndrome; C0392475 268300 Roberts-SC phocomelia syndrome
NM_001017420.2(ESCO2):c.745_746delGT (p.Val249Glnfs)	157570	ESCO2	Pathogenic	80359851	RCV000020408;	N	MedGen:C0392475,OMIM:268300,OMIM:269000,ORPHA:3103,SNOMED CT:48718006	8	27634570	27634571	NM_001017420.2:c.745_746delGT	NP_001017420.1:p.Val249Glnfs	NC_000008.10:g.27634570_27634571delGT	-	C0392475 268300 Roberts-SC phocomelia syndrome; C0392475 269000 Roberts-SC phocomelia syndrome
NM_001017420.2(ESCO2):c.751dupG (p.Glu251Glyfs)	157570	ESCO2	Pathogenic	80359852	RCV000001807;	N	MedGen:C0392475,OMIM:268300,OMIM:269000,ORPHA:3103,SNOMED CT:48718006	8	27634576	27634576	NM_001017420.2:c.751dupG	NP_001017420.1:p.Glu251Glyfs	NC_000008.10:g.27634576dupG	OMIM Allelic Variant:609353.0003	C0392475 268300 Roberts-SC phocomelia syndrome; C0392475 269000 Roberts-SC phocomelia syndrome
NM_001017420.2(ESCO2):c.760dupA (p.Thr254Asnfs)	157570	ESCO2	Pathogenic	80359853	RCV000001808;	N	MedGen:C0392475,OMIM:268300,OMIM:269000,ORPHA:3103,SNOMED CT:48718006	8	27634585	27634585	NM_001017420.2:c.760dupA	NP_001017420.1:p.Thr254Asnfs	NC_000008.10:g.27634585dupA	OMIM Allelic Variant:609353.0004	C0392475 268300 Roberts-SC phocomelia syndrome; C0392475 269000 Roberts-SC phocomelia syndrome
NM_001017420.2(ESCO2):c.760delA (p.Thr254Leufs)	157570	ESCO2	Pathogenic	80359854	RCV000020409;	N	MedGen:C0392475,OMIM:268300,OMIM:269000,ORPHA:3103,SNOMED CT:48718006	8	27634585	27634585	NM_001017420.2:c.760delA	NP_001017420.1:p.Thr254Leufs	NC_000008.10:g.27634585delA	OMIM Allelic Variant:609353.0007	C0392475 269000 Roberts-SC phocomelia syndrome; C0392475 268300 Roberts-SC phocomelia syndrome
NM_001017420.2(ESCO2):c.764_765delTT (p.Phe255Cysfs)	157570	ESCO2	Pathogenic	80359855	RCV000020411;	N	MedGen:C0392475,OMIM:268300,OMIM:269000,ORPHA:3103,SNOMED CT:48718006	8	27634589	27634590	NM_001017420.2:c.764_765delTT	NP_001017420.1:p.Phe255Cysfs	NC_000008.10:g.27634589_27634590delTT	-	C0392475 269000 Roberts-SC phocomelia syndrome; C0392475 268300 Roberts-SC phocomelia syndrome
NM_001017420.2(ESCO2):c.875_878delACAG (p.Asp292Glufs)	157570	ESCO2	Pathogenic	80359856	RCV000020412;	N	MedGen:C0392475,OMIM:268300,OMIM:269000,ORPHA:3103,SNOMED CT:48718006	8	27637704	27637707	NM_001017420.2:c.875_878delACAG	NP_001017420.1:p.Asp292Glufs	NC_000008.10:g.27637704_27637707delACAG	-	C0392475 268300 Roberts-SC phocomelia syndrome; C0392475 269000 Roberts-SC phocomelia syndrome
NM_001017420.2(ESCO2):c.879_880delAG (p.Arg293Serfs)	157570	ESCO2	Pathogenic	80359857	RCV000020413;	N	MedGen:C0392475,OMIM:268300,OMIM:269000,ORPHA:3103,SNOMED CT:48718006	8	27637708	27637709	NM_001017420.2:c.879_880delAG	NP_001017420.1:p.Arg293Serfs	NC_000008.10:g.27637708_27637709delAG	-	C0392475 268300 Roberts-SC phocomelia syndrome; C0392475 269000 Roberts-SC phocomelia syndrome
NM_001017420.2(ESCO2):c.894delAinsTTTTAT (p.Glu298Aspfs)	157570	ESCO2	Pathogenic	797045565	RCV000193201;	N	MedGen:C0392475,OMIM:268300,OMIM:269000,ORPHA:3103,SNOMED CT:48718006	8	27637723	27637723	NM_001017420.2:c.894delAinsTTTTAT	NP_001017420.1:p.Glu298Aspfs	NC_000008.10:g.27637723delAinsTTTTAT	-	C0392475 268300 Roberts-SC phocomelia syndrome; C0392475 269000 Roberts-SC phocomelia syndrome
NM_001017420.2(ESCO2):c.911dupA (p.Asn304Lysfs)	157570	ESCO2	Pathogenic	797045566	RCV000194407;	N	MedGen:C0392475,OMIM:268300,OMIM:269000,ORPHA:3103,SNOMED CT:48718006	8	27637740	27637740	NM_001017420.2:c.911dupA	NP_001017420.1:p.Asn304Lysfs	NC_000008.10:g.27637740dupA	-	C0392475 269000 Roberts-SC phocomelia syndrome; C0392475 268300 Roberts-SC phocomelia syndrome
NM_001017420.2(ESCO2):c.955+2_955+5delTAAG	157570	ESCO2	Pathogenic	80359858	RCV000020414;	N	MedGen:C0392475,OMIM:268300,OMIM:269000,ORPHA:3103,SNOMED CT:48718006	8	27637786	27637789	NM_001017420.2:c.955+2_955+5delTAAG		NC_000008.10:g.27637786_27637789delTAAG	-	C0392475 269000 Roberts-SC phocomelia syndrome; C0392475 268300 Roberts-SC phocomelia syndrome
NM_001017420.2(ESCO2):c.1044A>T (p.Gly348=)	157570	ESCO2	Uncertain significance	587783623	RCV000145964;	N	MedGen:C0392475,OMIM:268300,OMIM:269000,ORPHA:3103,SNOMED CT:48718006	8	27645432	27645432	NM_001017420.2:c.1044A>T	NP_001017420.1:p.Gly348=	NC_000008.10:g.27645432A>T	-	C0392475 268300 Roberts-SC phocomelia syndrome; C0392475 269000 Roberts-SC phocomelia syndrome
NM_001017420.2(ESCO2):c.1111_1112insG (p.Thr371Serfs)	157570	ESCO2	Pathogenic	80359859	RCV000020393;	N	MedGen:C0392475,OMIM:268300,OMIM:269000,ORPHA:3103,SNOMED CT:48718006	8	27645499	27645500	NM_001017420.2:c.1111_1112insG	NP_001017420.1:p.Thr371Serfs	NC_000008.10:g.27645499_27645500insG,NC_000008.10:g.27645499dupA	-	C0392475 268300 Roberts-SC phocomelia syndrome; C0392475 269000 Roberts-SC phocomelia syndrome
NM_001017420.2(ESCO2):c.1111dupA (p.Thr371Asnfs)	157570	ESCO2	Pathogenic	80359859	RCV000020394;	N	MedGen:C0392475,OMIM:268300,OMIM:269000,ORPHA:3103,SNOMED CT:48718006	8	27645499	27645499	NM_001017420.2:c.1111dupA	NP_001017420.1:p.Thr371Asnfs	NC_000008.10:g.27645499_27645500insG,NC_000008.10:g.27645499dupA	-	C0392475 269000 Roberts-SC phocomelia syndrome; C0392475 268300 Roberts-SC phocomelia syndrome
NM_001017420.2(ESCO2):c.1131+1G>A	157570	ESCO2	Pathogenic	80359861	RCV000020395;	N	MedGen:C0392475,OMIM:268300,OMIM:269000,ORPHA:3103,SNOMED CT:48718006	8	27645520	27645520	NM_001017420.2:c.1131+1G>A		NC_000008.10:g.27645520G>A	-	C0392475 269000 Roberts-SC phocomelia syndrome; C0392475 268300 Roberts-SC phocomelia syndrome
NM_001017420.2(ESCO2):c.1132-7A>G	157570	ESCO2	Pathogenic	80359862	RCV000020396;	N	MedGen:C0392475,OMIM:268300,OMIM:269000,ORPHA:3103,SNOMED CT:48718006	8	27646357	27646357	NM_001017420.2:c.1132-7A>G		NC_000008.10:g.27646357A>G	-	C0392475 268300 Roberts-SC phocomelia syndrome; C0392475 269000 Roberts-SC phocomelia syndrome
NM_001017420.2(ESCO2):c.1175G>A (p.Cys392Tyr)	157570	ESCO2	Likely pathogenic	146312522	RCV000145965;	N	MedGen:C0392475,OMIM:268300,OMIM:269000,ORPHA:3103,SNOMED CT:48718006	8	27646407	27646407	NM_001017420.2:c.1175G>A	NP_001017420.1:p.Cys392Tyr	NC_000008.10:g.27646407G>A	-	C0392475 268300 Roberts-SC phocomelia syndrome; C0392475 269000 Roberts-SC phocomelia syndrome
NM_001017420.2(ESCO2):c.1263+1G>C	157570	ESCO2	Pathogenic	80359863	RCV000020397;	N	MedGen:C0392475,OMIM:268300,OMIM:269000,ORPHA:3103,SNOMED CT:48718006	8	27646496	27646496	NM_001017420.2:c.1263+1G>C		NC_000008.10:g.27646496G>C	-	C0392475 268300 Roberts-SC phocomelia syndrome; C0392475 269000 Roberts-SC phocomelia syndrome
NM_001017420.2(ESCO2):c.1269G>A (p.Trp423Ter)	157570	ESCO2	Pathogenic	80359864	RCV000001809;	N	MedGen:C0392475,OMIM:268300,OMIM:269000,ORPHA:3103,SNOMED CT:48718006	8	27649485	27649485	NM_001017420.2:c.1269G>A	NP_001017420.1:p.Trp423Ter	NC_000008.10:g.27649485G>A	OMIM Allelic Variant:609353.0005	C0392475 269000 Roberts-SC phocomelia syndrome; C0392475 268300 Roberts-SC phocomelia syndrome
NM_001017420.2(ESCO2):c.1354-18G>A	157570	ESCO2	Pathogenic	80359865	RCV000020398;	N	MedGen:C0392475,OMIM:268300,OMIM:269000,ORPHA:3103,SNOMED CT:48718006	8	27650167	27650167	NM_001017420.2:c.1354-18G>A		NC_000008.10:g.27650167G>A	-	C0392475 269000 Roberts-SC phocomelia syndrome; C0392475 268300 Roberts-SC phocomelia syndrome
NM_001017420.2(ESCO2):c.1461_1462delAG (p.Arg487Serfs)	157570	ESCO2	Pathogenic	80359866	RCV000020399;	N	MedGen:C0392475,OMIM:268300,OMIM:269000,ORPHA:3103,SNOMED CT:48718006	8	27650292	27650293	NM_001017420.2:c.1461_1462delAG	NP_001017420.1:p.Arg487Serfs	NC_000008.10:g.27650292_27650293delAG	-	C0392475 268300 Roberts-SC phocomelia syndrome; C0392475 269000 Roberts-SC phocomelia syndrome
NM_001017420.2(ESCO2):c.1597dupT (p.Cys533Leufs)	157570	ESCO2	Pathogenic	80359867	RCV000020400;	N	MedGen:C0392475,OMIM:268300,OMIM:269000,ORPHA:3103,SNOMED CT:48718006	8	27657157	27657157	NM_001017420.2:c.1597dupT	NP_001017420.1:p.Cys533Leufs	NC_000008.10:g.27657157dupT	-	C0392475 269000 Roberts-SC phocomelia syndrome; C0392475 268300 Roberts-SC phocomelia syndrome
NM_001017420.2(ESCO2):c.1615T>G (p.Trp539Gly)	157570	ESCO2	Pathogenic	80359868	RCV000001805;	N	MedGen:C0392475,OMIM:268300,OMIM:269000,ORPHA:3103,SNOMED CT:48718006	8	27657175	27657175	NM_001017420.2:c.1615T>G	NP_001017420.1:p.Trp539Gly	NC_000008.10:g.27657175T>G	OMIM Allelic Variant:609353.0001	C0392475 268300 Roberts-SC phocomelia syndrome; C0392475 269000 Roberts-SC phocomelia syndrome
NM_001017420.2(ESCO2):c.1674-2A>G	157570	ESCO2	Pathogenic	80359869	RCV000020401;	N	MedGen:C0392475,OMIM:268300,OMIM:269000,ORPHA:3103,SNOMED CT:48718006	8	27660821	27660821	NM_001017420.2:c.1674-2A>G		NC_000008.10:g.27660821A>G	-	C0392475 268300 Roberts-SC phocomelia syndrome; C0392475 269000 Roberts-SC phocomelia syndrome