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
Term ID:2696
Name:Coffin-Siris syndrome
Definition:
Alternative IDs:DO:DOID:1925|OMIM:135900|OMIM:614607|OMIM:614608|OMIM:614609|OMIM:616938
ParentIDs:MESH:D000015|MESH:D006228|MESH:D008607|MESH:D008844
TreeNumbers:C05.390.408/C536436 |C05.500.460.457/C536436 |C05.660.207.540.460.457/C536436 |C05.660.585.988.425/C536436 |C07.320.440.457/C536436 |C07.650.500.460.457/C536436 |C10.597.606.360/C536436 |C16.131.077/C536436 |C16.131.621.207.540.460.457/C536436 |C16.131.621.585.98
Synonyms:COFFIN-SIRIS SYNDROME |COFFIN-SIRIS SYNDROME 1 |COFFIN-SIRIS SYNDROME 2 |COFFIN-SIRIS SYNDROME 3 |COFFIN-SIRIS SYNDROME 4 |COFFIN-SIRIS SYNDROME 5 |CSS |CSS1 |CSS2 |CSS3 |CSS4 |CSS5 |Fifth digit syndrome |MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 |MENTAL RETARDATION,
Slim Mappings:Congenital abnormality|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C536436
MeSH: C536436
OMIM: 135900;
MSeqDR LSDB:  
Genes: AF8T; ARID1A; SMARCA4; SMARCB1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000007Autosomal recessive inheritance
3 HP:0000718Aggressive behavior
4 HP:0000151Aplasia of the uterus
5 HP:0006498Aplasia/Hypoplasia of the patella
6 HP:0000483Astigmatism
7 HP:0001631Atrial septal defect
8 HP:0000729Autistic behavior
9 HP:0000455Broad nasal tip
10 HP:0000453Choanal atresia
11 HP:0000175Cleft palate
12 HP:0000280Coarse facial features
13 HP:0000776Congenital diaphragmatic hernia
14 HP:0002673Coxa valga
15 HP:0000028Cryptorchidism
16 HP:0000965Cutis marmorata
17 HP:0001305Dandy-Walker malformation
18 HP:0000684Delayed eruption of teeth
19 HP:0002750Delayed skeletal maturation
20 HP:0005280Depressed nasal bridge
21 HP:0003083Dislocated radial head
22 HP:0000494Downslanted palpebral fissures
23 HP:0002588Duodenal ulcer
24 HP:0000086Ectopic kidney
25 HP:0002219Facial hypertrichosis
26 HP:0008872Feeding difficulties in infancy
27 HP:0002592Gastric ulcer
28 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
29 HP:0001263Global developmental delay
NAMDC:  Mental retardation
30 HP:0000365Hearing impairment
31 HP:0001028Hemangioma
32 HP:0000218High palate
33 HP:0000126Hydronephrosis
34 HP:0002079Hypoplasia of the corpus callosum
35 HP:0008398Hypoplastic fifth fingernail
36 HP:0000047Hypospadias
37 HP:0000601Hypotelorism
38 HP:0000023Inguinal hernia
39 HP:0001249Intellectual disability
40 HP:0002566Intestinal malrotation
41 HP:0001511Intrauterine growth retardation
42 HP:0002576Intussusception
43 HP:0001388Joint laxity
44 HP:0002808Kyphosis
45 HP:0000527Long eyelashes
46 HP:0000369Low-set ears
47 HP:0009747Lumbosacral hirsutism
48 HP:0000252Microcephaly
49 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
50 HP:0000545Myopia
51 HP:0000639Nystagmus
52 HP:0001338Partial agenesis of the corpus callosum
53 HP:0001643Patent ductus arteriosus
54 HP:0003812Phenotypic variability
55 HP:0000358Posteriorly rotated ears
56 HP:0008897Postnatal growth retardation
57 HP:0000384Preauricular skin tag
58 HP:0006237Prominent interphalangeal joints
59 HP:0000508Ptosis
NAMDC:  Ptosis
60 HP:0002205Recurrent respiratory infections
61 HP:0000089Renal hypoplasia
62 HP:0000960Sacral dimple
63 HP:0002650Scoliosis
64 HP:0001250Seizures
NAMDC:  Seizures
65 HP:0006863Severe expressive language delay
66 HP:0004227Short distal phalanx of the 5th finger
67 HP:0100391Short distal phalanx of the 5th toe
68 HP:0004322Short stature
NAMDC:  Short stature (patient¡¯s height is below the 3rd percentile)
69 HP:0000879Short sternum
70 HP:0000954Single transverse palmar crease
71 HP:0002209Sparse scalp hair
72 HP:0003298Spina bifida occulta
73 HP:0000486Strabismus
74 HP:0001636Tetralogy of Fallot
75 HP:0000574Thick eyebrow
76 HP:0000179Thick lower lip vermilion
77 HP:0000219Thin upper lip vermilion
78 HP:0001537Umbilical hernia
79 HP:0001629Ventricular septal defect
80 HP:0000505Visual impairment
81 HP:0000154Wide mouth
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_006015.6(ARID1A):c.4003C>T (p.Arg1335Ter)8289ARID1APathogenicrs387906846RCV000023229|RCV000856779; NMONDO:MONDO:0013819,MedGen:C3553247,OMIM:614607, Orphanet:1465|MONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:146512710020727100207CT1:g.27100207C>TClinGen:CA129094,OMIM:603024.0003C3553247 614607 Mental retardation, autosomal dominant 14;
NM_017519.2(ARID1B):c.17G>A (p.Gly6Asp)57492ARID1BLikely pathogenicrs1057518648RCV000414923; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157099080157099080GA6:g.157099080G>AClinGen:CA16043663
NM_001374828.1(ARID1B):c.591_593GCA[9] (p.Gln213_Gln214dup)57492ARID1BBenignrs587779743RCV000192333|RCV000716110|RCV000987806; NMedGen:CN169374|MedGen:C2711754|MONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157099420157099425CCCAGCAG6:g.157099402_157099403insCAGCAGClinGen:CA205084
NM_001374828.1(ARID1B):c.1046T>G (p.Met349Arg)57492ARID1BUncertain significance-1RCV001196943; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157099860157099860TG6:g.157099860T>G-
NM_020732.3(ARID1B):c.850C>T (p.Gln284Ter)57492ARID1BPathogenicrs1583025138RCV000787348; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157099913157099913CT6:g.157099913C>T-
NM_017519.2(ARID1B):c.921_923CGG[9] (p.Gly319dup)57492ARID1BBenign/Likely benignrs587779747RCV000192790|RCV000514231|RCV000717347|RCV001198376; NMedGen:CN169374|MedGen:CN517202|MedGen:C2711754|MONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157099981157099982GGGGC6:g.157099981_157099982insGGCClinGen:CA205857
NM_020732.3(ARID1B):c.980G>C (p.Gly327Ala)57492ARID1BUncertain significancers1455234951RCV000522517|RCV000719446|RCV000765880; NMedGen:CN517202|MedGen:C2711754|MONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157100043157100043GC6:g.157100043G>CClinGen:CA366383630CN169374 not specified;
NM_001374828.1(ARID1B):c.1451dup (p.Phe485fs)57492ARID1BPathogenicrs1554248082RCV000987807; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157100259157100260CCG6:g.157100259_157100260insG-
NM_001374828.1(ARID1B):c.1508del (p.Asn503fs)57492ARID1BPathogenicrs1583026682RCV000787349; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157100321157100321CAC6:g.157100321_157100321del-
NM_020732.3(ARID1B):c.1308C>G (p.Ser436Arg)57492ARID1BUncertain significancers1583026835RCV000790471; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157100371157100371CG6:g.157100371C>G-
NM_001374828.1(ARID1B):c.1629_1647del (p.Gly544fs)57492ARID1BLikely pathogenic-1RCV001251106; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157100437157100455CGGCGGCGGGGGCGGCGGCGC6:g.157100437_157100455del-
NM_001374828.1(ARID1B):c.1638_1647del (p.Ala547fs)57492ARID1BPathogenic-1RCV001198668|RCV001265674; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:1465|MeSH:D030342,MedGen:C09501236157100445157100454GGGGCGGCGGCG6:g.157100445_157100454del-
NM_020732.3(ARID1B):c.1483C>T (p.Gln495Ter)57492ARID1BPathogenicrs1554248236RCV000501251; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157100546157100546CT6:g.157100546C>TClinGen:CA366385589
NM_001374828.1(ARID1B):c.1737del (p.Ser580fs)57492ARID1BUncertain significance-1RCV001253291; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157100550157100550AGA6:g.157100550_157100550del-
NM_001374828.1(ARID1B):c.1767del (p.Gly590fs)57492ARID1BPathogenic-1RCV001253767; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157100577157100577ACA6:g.157100577_157100577del-
NM_001374828.1(ARID1B):c.1789C>T (p.Gln597Ter)57492ARID1BConflicting interpretations of pathogenicity-1RCV001253257|RCV001255334|RCV001267290; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:1465|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Pheno6157100603157100603CT6:g.157100603C>T-
GRCh37/hg19 6q25.3(chr6:157133792-157495187)57492ARID1BPathogenic-1RCV000767794; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157133792157495187nana-
NM_020732.3(ARID1B):c.1618C>T (p.Gln540Ter)57492ARID1BPathogenicrs1554256703RCV000624037|RCV000679918; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157150436157150436CT6:g.157150436C>TClinGen:CA366384047C3281201 135900 Coffin-Siris syndrome 1;
NM_001374828.1(ARID1B):c.1870C>T (p.Gln624Ter)57492ARID1BPathogenicrs754167205RCV000995694; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157150439157150439CT6:g.157150439C>T-
NM_001374828.1(ARID1B):c.1987-29742G>A57492ARID1BLikely pathogenic-1RCV001262474; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157192768157192768GA6:g.157192768G>A-
NM_020732.3(ARID1B):c.1762G>T (p.Glu588Ter)57492ARID1BPathogenicrs201653711RCV000623614|RCV000763142; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157192772157192772GT6:g.157192772G>TClinGen:CA4066877
NM_001374828.1(ARID1B):c.1987-10T>G57492ARID1BUncertain significance-1RCV001197541; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157222500157222500TG6:g.157222500T>G-
NM_020732.3(ARID1B):c.1828C>T (p.Gln610Ter)57492ARID1BPathogenicrs1554265271RCV000679919; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157222561157222561CT6:g.157222561C>T-C3281201 135900 Coffin-Siris syndrome 1;
NM_001374828.1(ARID1B):c.2046del (p.Tyr683fs)57492ARID1BLikely pathogenicrs1582908829RCV000824814; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157222569157222569CAC6:g.157222569_157222569del-
NM_017519.2(ARID1B):c.1802dup (p.Tyr601Ter)57492ARID1BPathogenicrs1554265275RCV000505206; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157222573157222574TTA6:g.157222573_157222574insAClinGen:CA645509170
NM_001374828.1(ARID1B):c.2107C>T (p.Gln703Ter)57492ARID1BPathogenicrs1554265316RCV001028057; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157222630157222630CT6:g.157222630C>T-
NM_020732.3(ARID1B):c.1899dup (p.Ser634fs)57492ARID1BPathogenicrs1554265319RCV000502354; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157222631157222632AAG6:g.157222631_157222632insGClinGen:CA645372831
NM_017519.2(ARID1B):c.1864C>T (p.Gln622Ter)57492ARID1BPathogenicrs387907142RCV000024212; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157222636157222636CT6:g.157222636C>TClinGen:CA129766,OMIM:614556.0006C3281201 135900 Coffin-Siris syndrome 1;
NM_020732.3(ARID1B):c.1960C>T (p.Gln654Ter)57492ARID1BLikely pathogenicrs1554270809RCV000505250|RCV000512856; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:1465|MedGen:CN5172026157256633157256633CT6:g.157256633C>TClinGen:CA366380407C3281201 135900 Coffin-Siris syndrome 1;
NM_020732.3(ARID1B):c.2077G>T (p.Glu693Ter)57492ARID1BPathogenic/Likely pathogenicrs1554294593RCV000760214; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157405835157405835GT6:g.157405835G>T-
NM_020732.3(ARID1B):c.2149C>T (p.Gln717Ter)57492ARID1BPathogenicrs753933273RCV000195185|RCV000520794; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:1465|MedGen:CN5172026157405907157405907CT6:g.157405907C>TClinGen:CA209839
NM_001374828.1(ARID1B):c.2379_2398del (p.His793fs)57492ARID1BLikely pathogenicrs1583280025RCV000824815; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157405925157405944ACATGCGTCCCCTCATCTCTCA6:g.157405925_157405944del-
NM_020732.3(ARID1B):c.2190del (p.Ser730fs)57492ARID1BPathogenicrs1583280152RCV000851516; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157405948157405948GCG6:g.157405948_157405948del-
NM_001363725.2(ARID1B):c.-48C>T57492ARID1BPathogenicrs869312712RCV000209876; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157406000157406000CT6:g.157406000C>TClinGen:CA358556C3281201 135900 Coffin-Siris syndrome 1;
NM_020732.3(ARID1B):c.2248C>T (p.Arg750Ter)57492ARID1BPathogenicrs797045272RCV000193875|RCV000578614; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:1465|MedGen:CN5172026157406006157406006CT6:g.157406006C>TClinGen:CA207644
NM_001363725.2(ARID1B):c.-32dup57492ARID1BPathogenicrs1554294698RCV000505251; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157406013157406014GGC6:g.157406013_157406014insCClinGen:CA645509171C3281201 135900 Coffin-Siris syndrome 1;
NM_001346813.1(ARID1B):c.2354_2357del (p.Arg785fs)57492ARID1BPathogenic/Likely pathogenicrs1085307695RCV000489176|RCV001262987; NMedGen:CN517202|MONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157454180157454183CAAAGC6:g.157454180_157454183delClinGen:CA645294042CN517202 not provided;
NM_020732.3(ARID1B):c.2465dup (p.Gln823fs)57492ARID1BPathogenicrs1554301230RCV000504133; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157454250157454251TTG6:g.157454250_157454251insGClinGen:CA645372832
NM_001374828.1(ARID1B):c.2677dup (p.Gln893fs)57492ARID1BPathogenicrs1583368813RCV000824974; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157454255157454256GGC6:g.157454255_157454256insC-
NM_001374828.1(ARID1B):c.2711G>A (p.Ser904Asn)57492ARID1BUncertain significance-1RCV001262426; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157454291157454291GA6:g.157454291G>A-
NM_017519.2(ARID1B):c.2981_2986+7del57492ARID1BPathogenicrs1583438967RCV000850529; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157488312157488324GCTCGGCAGGTAACG6:g.157488312_157488324del-
NM_001374828.1(ARID1B):c.3277A>T (p.Lys1093Ter)57492ARID1BPathogenic-1RCV001249188; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157495183157495183AT6:g.157495183A>T-
NM_001374828.1(ARID1B):c.3287del (p.Leu1096fs)57492ARID1BLikely pathogenicrs1583451146RCV000985099; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157495193157495193CTC6:g.157495193_157495193del-
NM_017519.2(ARID1B):c.3057_3061del (p.Lys1020fs)57492ARID1BLikely pathogenicrs1131692263RCV000496047; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157495211157495215GGCAAAG6:g.157495211_157495215delClinGen:CA645372436
NM_001374828.1(ARID1B):c.3312dup (p.Glu1105fs)57492ARID1BPathogenic-1RCV001254113; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157495216157495217GGA6:g.157495216_157495217insA-
NM_001374828.1(ARID1B):c.3345G>A (p.Lys1115=)57492ARID1BPathogenicrs1583451360RCV000856774; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157495251157495251GA6:g.157495251G>A-
GRCh38/hg38 6q25.3(chr6:157179172-157184916)x157492ARID1BLikely pathogenic-1RCV000708582; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157500306157506050nana-
NM_001374828.1(ARID1B):c.3581_3602del (p.Leu1194fs)57492ARID1BLikely pathogenic-1RCV001270399; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157502178157502199GCTCTGGGTCGACCGATACCTCAG6:g.157502178_157502199del-
NM_020732.3(ARID1B):c.3223C>T (p.Arg1075Ter)57492ARID1BPathogenicrs387907144RCV000024215|RCV000481866|RCV000624305; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:1465|MedGen:CN517202|MeSH:D030342,MedGen:C09501236157502190157502190CT6:g.157502190C>TClinGen:CA129770,OMIM:614556.0009C3281201 135900 Coffin-Siris syndrome 1;
NM_020732.3(ARID1B):c.3228C>G (p.Tyr1076Ter)57492ARID1BPathogenicrs1562328526RCV000679920; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157502195157502195CG6:g.157502195C>G-C3281201 135900 Coffin-Siris syndrome 1;
NM_020732.3(ARID1B):c.3304C>T (p.Arg1102Ter)57492ARID1BPathogenicrs387907141RCV000024209|RCV000254764; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:1465|MedGen:CN5172026157502271157502271CT6:g.157502271C>TClinGen:CA129764,OMIM:614556.0003C3281201 135900 Coffin-Siris syndrome 1;
NM_017519.2(ARID1B):c.3284_3285del (p.Lys1095fs)57492ARID1BPathogenicrs876657380RCV000024210; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157502289157502290CAAC6:g.157502289_157502290delClinGen:CA10575557,OMIM:614556.0004
NM_020732.3(ARID1B):c.3345+2T>G57492ARID1BPathogenicrs1404726383RCV000505225; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157502314157502314TG6:g.157502314T>GClinGen:CA366228589C3281201 135900 Coffin-Siris syndrome 1;
NM_020732.3(ARID1B):c.3401C>G (p.Ser1134Ter)57492ARID1BLikely pathogenicrs1583469292RCV000788110; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157505420157505420CG6:g.157505420C>G-
NM_020732.3(ARID1B):c.3430C>T (p.Gln1144Ter)57492ARID1BPathogenicrs1554231836RCV000500865|RCV001249528; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:1465|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Pheno6157505449157505449CT6:g.157505449C>TClinGen:CA366230330C3281201 135900 Coffin-Siris syndrome 1;
NM_020732.3(ARID1B):c.3450del (p.Phe1150fs)57492ARID1BPathogenicrs1554231845RCV000502765; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157505467157505467GTG6:g.157505467_157505467delClinGen:CA645372827
NM_017519.2(ARID1B):c.3509del (p.Pro1170fs)57492ARID1BPathogenicrs1562331655RCV000679921; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157505566157505566TCT6:g.157505566_157505566del-C3281201 135900 Coffin-Siris syndrome 1;
NM_017519.2(ARID1B):c.3529C>T (p.Gln1177Ter)57492ARID1BPathogenicrs1554232919RCV000850528; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157510793157510793CT6:g.157510793C>T-
NM_001374828.1(ARID1B):c.3955dup (p.Gln1319fs)57492ARID1BPathogenic/Likely pathogenicrs1289067120RCV000856776; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157510805157510806AAC6:g.157510805_157510806insC-
NM_017519.2(ARID1B):c.3593dup (p.Pro1199fs)57492ARID1BPathogenicrs1554232959RCV000627688; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157510855157510856GGA6:g.157510855_157510856insAClinGen:CA658796859
NM_017519.2(ARID1B):c.3650+1G>C57492ARID1BPathogenicrs1057518691RCV000415272; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157510915157510915GC6:g.157510915G>CClinGen:CA16043721C3281201 135900 Coffin-Siris syndrome 1;
NM_020732.3(ARID1B):c.3737C>A (p.Ser1246Ter)57492ARID1BPathogenicrs772973856RCV000679922; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157511219157511219CA6:g.157511219C>A-C3281201 135900 Coffin-Siris syndrome 1;
NM_001374828.1(ARID1B):c.4245C>G (p.Ser1415Arg)57492ARID1BUncertain significance-1RCV001198084; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157517312157517312CG6:g.157517312C>G-
NM_001374828.1(ARID1B):c.4263del (p.Gly1422fs)57492ARID1BPathogenicrs1583491381RCV000987808; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157517329157517329CAC6:g.157517329_157517329del-
NM_020732.3(ARID1B):c.3898C>T (p.Gln1300Ter)57492ARID1BPathogenicrs1554234341RCV000500042; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157517334157517334CT6:g.157517334C>TClinGen:CA366238078
NM_017519.2(ARID1B):c.3880C>T (p.Gln1294Ter)57492ARID1BPathogenicrs387907140RCV000024207; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157517355157517355CT6:g.157517355C>TClinGen:CA129762,OMIM:614556.0001C3281201 135900 Coffin-Siris syndrome 1;
NM_001374828.1(ARID1B):c.4299C>A (p.Tyr1433Ter)57492ARID1BPathogenicrs1583491515RCV000987809; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157517366157517366CA6:g.157517366C>A-
NM_020732.3(ARID1B):c.4009C>T (p.Arg1337Ter)57492ARID1BPathogenicrs773740590RCV000578297|RCV000578964|RCV000624544; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:1465|MedGen:CN517202|MeSH:D030342,MedGen:C09501236157517445157517445CT6:g.157517445C>TClinGen:CA366238872C3281201 135900 Coffin-Siris syndrome 1;
NM_020732.3(ARID1B):c.4014-1G>A57492ARID1BPathogenicrs886044620RCV000261577|RCV001197143; NMedGen:CN517202|MONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157519944157519944GA6:g.157519944G>AClinGen:CA10606985C3281201 135900 Coffin-Siris syndrome 1;
NM_017519.2(ARID1B):c.3999T>A (p.Tyr1333Ter)57492ARID1BPathogenicrs748363079RCV000024211; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157519969157519969TA6:g.157519969T>AClinGen:CA10575558,OMIM:614556.0005
NM_020732.3(ARID1B):c.4110G>A (p.Pro1370=)57492ARID1BConflicting interpretations of pathogenicityrs797045277RCV000415059|RCV000416951|RCV000657879|RCV001266859; N7 conditions|MONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:1465|MedGen:CN517202|MeSH:D030342,MedGen:C09501236157520041157520041GA6:g.157520041G>AOMIM:614556.0012,ClinGen:CA207808
NM_001374828.1(ARID1B):c.4479+1G>T57492ARID1BPathogenic-1RCV001197917; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157520042157520042GT6:g.157520042G>T-
NM_020732.3(ARID1B):c.4140C>G (p.Tyr1380Ter)57492ARID1BPathogenicrs377021700RCV000710059; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157521868157521868CG6:g.157521868C>G-
NM_001374828.1(ARID1B):c.4663_4670dup (p.Pro1558fs)57492ARID1BPathogenic-1RCV001261229; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157522019157522020AAGGATGCAG6:g.157522019_157522020insGGATGCAG-
NM_020732.3(ARID1B):c.4336C>T (p.Gln1446Ter)57492ARID1BLikely pathogenicrs797045278RCV000193003; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157522064157522064CT6:g.157522064C>TClinGen:CA206215
NM_001374828.1(ARID1B):c.4894G>A (p.Glu1632Lys)57492ARID1BUncertain significance-1RCV001198868; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157522253157522253GA6:g.157522253G>A-
NM_020732.3(ARID1B):c.4536G>A (p.Trp1512Ter)57492ARID1BPathogenicrs1554235834RCV000679923; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157522264157522264GA6:g.157522264G>A-C3281201 135900 Coffin-Siris syndrome 1;
NM_017519.2(ARID1B):c.4583_4592del (p.Gln1528fs)57492ARID1BPathogenicrs876657382RCV000024216; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157522347157522356TACCAGACGCCT6:g.157522347_157522356delClinGen:CA10575560,OMIM:614556.0010
NM_001374828.1(ARID1B):c.5092C>G (p.Leu1698Val)57492ARID1BUncertain significance-1RCV001198501; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157522451157522451CG6:g.157522451C>G-
NM_001374828.1(ARID1B):c.5224del (p.Val1742fs)57492ARID1BLikely pathogenicrs1583502875RCV000985100; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157522583157522583AGA6:g.157522583_157522583del-
NM_020732.3(ARID1B):c.4870C>T (p.Arg1624Ter)57492ARID1BPathogenicrs1554236040RCV000599263|RCV000677116; NMedGen:CN517202|MONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157522598157522598CT6:g.157522598C>TClinGen:CA366243193C3281201 135900 Coffin-Siris syndrome 1;
NM_017519.2(ARID1B):c.4850del (p.Asp1617fs)57492ARID1BPathogenicrs1562347066RCV000679925; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157522617157522617GAG6:g.157522617_157522617del-C3281201 135900 Coffin-Siris syndrome 1;
NM_001374828.1(ARID1B):c.5281dup (p.Arg1761fs)57492ARID1BPathogenic-1RCV001027703; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157525016157525017GGC6:g.157525016_157525017insC-
NM_001374828.1(ARID1B):c.5394+3A>C57492ARID1BLikely pathogenic-1RCV001261230; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157525133157525133AC6:g.157525133A>C-
NM_020732.3(ARID1B):c.5026-2A>C57492ARID1BLikely pathogenicrs1562350940RCV000760273; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157527299157527299AC6:g.157527299A>C-
NM_001374828.1(ARID1B):c.5407del (p.Leu1803fs)57492ARID1Bnot provided-1RCV001175286; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157527313157527313TCT6:g.157527313_157527313del-
NM_020732.3(ARID1B):c.5056dup (p.Tyr1686fs)57492ARID1BPathogenicrs797045279RCV000195050; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157527330157527331GGT6:g.157527330_157527331insTClinGen:CA209613
NM_020732.3(ARID1B):c.5151del (p.Lys1718fs)57492ARID1BPathogenicrs797045280RCV000193070; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157527425157527425AGA6:g.157527425_157527425delClinGen:CA206316
NM_020732.3(ARID1B):c.5153del (p.Lys1718fs)57492ARID1BPathogenicrs797045281RCV000194488; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157527427157527427GAG6:g.157527427_157527427delClinGen:CA208682
NM_017519.2(ARID1B):c.5290A>T (p.Lys1764Ter)57492ARID1BPathogenicrs387907143RCV000024214; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157527604157527604AT6:g.157527604A>TClinGen:CA129768,OMIM:614556.0008C3281201 135900 Coffin-Siris syndrome 1;
NM_017519.2(ARID1B):c.5351_5354TGTT[1] (p.Phe1785fs)57492ARID1BPathogenic/Likely pathogenicrs1554237269RCV000501931|RCV000782033; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:1465|MedGen:CN5172026157527665157527668CTGTTC6:g.157527665_157527668delClinGen:CA645372828
NM_020732.3(ARID1B):c.5404C>T (p.Arg1802Ter)57492ARID1BPathogenicrs797045282RCV000193164|RCV000624857|RCV001269579; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:1465|MeSH:D030342,MedGen:C0950123|MedGen:CN5172026157527679157527679CT6:g.157527679C>TClinGen:CA206469C3281201 135900 Coffin-Siris syndrome 1;
NM_001346813.1(ARID1B):c.5602G>T (p.Glu1868Ter)57492ARID1BLikely pathogenicrs1451259945RCV000723328; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157527757157527757GT6:g.157527757G>T-
NM_020732.3(ARID1B):c.5482G>A (p.Glu1828Lys)57492ARID1BLikely pathogenicrs1451259945RCV000779591; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157527757157527757GA6:g.157527757G>A-
NM_001374828.1(ARID1B):c.5897G>T (p.Arg1966Leu)57492ARID1BUncertain significance-1RCV001253676; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157527803157527803GT6:g.157527803G>T-
NM_017519.2(ARID1B):c.5508dup (p.Ser1838fs)57492ARID1BPathogenicrs35441529RCV000359978|RCV001253312; NMedGen:CN517202|MONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157527816157527817TTC6:g.157527816_157527817insCClinGen:CA10602935CN517202 not provided;
NM_017519.2(ARID1B):c.5527_5530AAGA[1] (p.Lys1844fs)57492ARID1BPathogenicrs886041706RCV000364376|RCV000503710|RCV001266943; NMedGen:CN517202|MONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:1465|MeSH:D030342,MedGen:C09501236157527838157527841TAGAAT6:g.157527838_157527841delClinGen:CA10603004,OMIM:614556.0011C3281201 135900 Coffin-Siris syndrome 1;
NM_017519.2(ARID1B):c.5593del (p.Asp1865fs)57492ARID1BPathogenicrs876657381RCV000024213; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157527907157527907CGC6:g.157527907_157527907delOMIM:614556.0007,ClinGen:CA10575559
NM_001374828.1(ARID1B):c.6028del (p.Ala2010fs)57492ARID1BLikely pathogenic-1RCV001262412; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157527931157527931AGA6:g.157527931_157527931del-
NM_020732.3(ARID1B):c.5680C>T (p.Pro1894Ser)57492ARID1BUncertain significancers774509236RCV000194179|RCV000765881; NMedGen:CN169374|MONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157527955157527955CT6:g.157527955C>TClinGen:CA208181
NM_020732.3(ARID1B):c.5741G>A (p.Arg1914Gln)57492ARID1BUncertain significancers751391187RCV000718178|RCV001196471; NMedGen:C2711754|MONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157528016157528016GA6:g.157528016G>A-
NM_017519.2(ARID1B):c.5737C>T (p.Arg1913Ter)57492ARID1BPathogenicrs1554237658RCV000578816|RCV000622953|RCV000625417; NMedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157528051157528051CT6:g.157528051C>TClinGen:CA366247636C3281201 135900 Coffin-Siris syndrome 1;
NM_020732.3(ARID1B):c.5830C>T (p.Arg1944Ter)57492ARID1BPathogenicrs1028186690RCV000496177; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157528105157528105CT6:g.157528105C>TClinGen:CA366247749C3281201 135900 Coffin-Siris syndrome 1;
NM_020732.3(ARID1B):c.5968C>T (p.Arg1990Ter)57492ARID1BPathogenicrs797045283RCV000194737|RCV000523275|RCV000735324; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:1465|MedGen:CN517202|10 conditions6157528243157528243CT6:g.157528243C>TClinGen:CA209106C3281201 135900 Coffin-Siris syndrome 1;
NM_017519.2(ARID1B):c.6061C>T (p.Gln2021Ter)57492ARID1BPathogenicrs869312697RCV000209939; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157528375157528375CT6:g.157528375C>TClinGen:CA358558C3281201 135900 Coffin-Siris syndrome 1;
NM_001374828.1(ARID1B):c.6592G>T (p.Val2198Phe)57492ARID1BUncertain significance-1RCV001199245; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157528498157528498GT6:g.157528498G>T-
NM_001374828.1(ARID1B):c.6608_6609del (p.Arg2203fs)57492ARID1BPathogenic-1RCV001261407; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157528511157528512CAGC6:g.157528511_157528512del-
NM_001374828.1(ARID1B):c.6617T>C (p.Leu2206Pro)57492ARID1BLikely pathogenic-1RCV001250800; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157528523157528523TC6:g.157528523T>C-
NM_017519.2(ARID1B):c.6215_6242dup (p.Asn2082_Val2083insProLeuTer)57492ARID1BPathogenicrs1554237992RCV000578385; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157528527157528528GGACCCTCTGTAAACTCAGTATCCAGGACA6:g.157528527_157528528insACCCTCTGTAAACTCAGTATCCAGGACAClinGen:CA658683456C3281201 135900 Coffin-Siris syndrome 1;
NM_017519.2(ARID1B):c.6216_6217del (p.Leu2073_Cys2074insTer)57492ARID1BPathogenicrs886040958RCV000258010; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157528529157528530ACCA6:g.157528529_157528530delClinGen:CA10590096C3281201 135900 Coffin-Siris syndrome 1;
NM_020732.3(ARID1B):c.6382C>T (p.Arg2128Ter)57492ARID1BPathogenicrs1554238072RCV000523285|RCV000717396|RCV000995695; NMedGen:CN517202|MedGen:C2711754|MONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157528657157528657CT6:g.157528657C>TClinGen:CA366248978CN517202 not provided;
NM_017519.2(ARID1B):c.6424_6434del (p.Ser2142fs)57492ARID1BPathogenicrs876657379RCV000024208; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157528737157528747GAAGCATTGGAAG6:g.157528737_157528747delClinGen:CA10575556,OMIM:614556.0002
NM_017519.2(ARID1B):c.6434del (p.Asn2145fs)57492ARID1BLikely pathogenicrs1562354784RCV000785962; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157528746157528746GAG6:g.157528746_157528746del-
NM_020732.3(ARID1B):c.6526C>T (p.Gln2176Ter)57492ARID1BLikely pathogenicrs758120346RCV000505205; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157528801157528801CT6:g.157528801C>TClinGen:CA366249299C3281201 135900 Coffin-Siris syndrome 1;
NM_001374828.1(ARID1B):c.6896del (p.Gln2299fs)57492ARID1BPathogenicrs1583518354RCV000987810; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157528802157528802CAC6:g.157528802_157528802del-
NM_001374828.1(ARID1B):c.6898dup (p.His2300fs)57492ARID1BPathogenic-1RCV001198074; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157528803157528804GGC6:g.157528803_157528804insC-
NM_001374828.1(ARID1B):c.7069_7070del (p.Leu2357fs)57492ARID1BLikely pathogenic-1RCV001264729; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157528971157528972ACTA6:g.157528971_157528972del-
NM_017519.2(ARID1B):c.6661del (p.Leu2221fs)57492ARID1BPathogenicrs1562355401RCV000679926; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157528975157528975TCT6:g.157528975_157528975del-C3281201 135900 Coffin-Siris syndrome 1;
NM_001374828.1(ARID1B):c.253G>T (p.Ala85Ser)-1ARID1B;LOC115308161Uncertain significance-1RCV001196312; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157099067157099067GT6:g.157099067G>T-
NM_001374828.1(ARID1B):c.482C>T (p.Ala161Val)-1ARID1B;LOC115308161Uncertain significance-1RCV001196470; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656157099296157099296CT6:g.157099296C>T-
GRCh37/hg19 6q25.3(chr6:156858484-157854806)-1ARID1B;ZDHHC14;TMEM242Pathogenic-1RCV000767557; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656156858484157854806nana-
NM_006268.5(DPF2):c.827G>T (p.Cys276Phe)5977DPF2Pathogenicrs1555031372RCV000656717|RCV000664329; NMONDO:MONDO:0054831,MedGen:C4747954,OMIM:618027|MONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:1465116511345265113452GT11:g.65113452G>TLOVD 3:DPF2_000001,OMIM:601671.0001
NM_003070.5(SMARCA2):c.1240G>A (p.Ala414Thr)6595SMARCA2Uncertain significancers1554618664RCV000522698|RCV000678344; NMedGen:CN517202|MONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:1465; MONDO:MONDO:0011053,MedGen:C1303073,OMIM:601358, Orphanet:3051920567382056738GA9:g.2056738G>AClinGen:CA372781674
NM_001128849.2(SMARCA4):c.5000A>G (p.Gln1667Arg)6597SMARCA4Uncertain significancers1568566518RCV000761560; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:1465191117085611170856AG19:g.11170856A>G-
46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q2-1subset of 88 genes: ARID1B:ERMPathogenic-1RCV000714957; NMONDO:MONDO:0007617,MedGen:C3281201,OMIM:135900, Orphanet:14656151443333171115067nana-
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