MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Disease Browser
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Ciliary Motility Disorders (D002925)
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Encephalocele (D004677)
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Polycystic Kidney Diseases (D007690)
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Retinitis Pigmentosa (D012174)
..Starting node
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Meckel syndrome type 1 (C536133)

       Child Nodes:



 Sister Nodes: 
..expandAldred syndrome (C537046)
..expandAlstrom Syndrome (D056769)
..expandAmaurosis hypertrichosis (C536604)
..expandBardet-Biedl Syndrome (D020788) Child13
..expandBork Stender Schmidt syndrome (C536576)
..expandChang Davidson Carlson syndrome (C538075)
..expandChromosome Xp11.3 Deletion Syndrome (C564481)
..expandCone Dystrophy 3 (C566579)
..expandCone Dystrophy 4 (C567758)
..expandCone Dystrophy, X-Linked, 1 (C564439)
..expandCone dystrophy, x-linked, with tapetal-like sheen (C535975)
..expandCone rod dystrophy amelogenesis imperfecta (C535976)
..expandCone-Rod Dystrophy 1 (C563469)
..expandCone-Rod Dystrophy 10 (C564597)
..expandCone-Rod Dystrophy 11 (C563671)
..expandCone-Rod Dystrophy 12 (C567206)
..expandCone-Rod Dystrophy 13 (C567698)
..expandCONE-ROD DYSTROPHY 16 (OMIM:614500)
..expandCONE-ROD DYSTROPHY 18 (OMIM:615374)
..expandCONE-ROD DYSTROPHY 19 (OMIM:615860)
..expandCONE-ROD DYSTROPHY 2 (OMIM:120970)
..expandCONE-ROD DYSTROPHY 20 (OMIM:615973)
..expandCONE-ROD DYSTROPHY 21 (OMIM:616502)
..expandCone-Rod Dystrophy 3 (C565827)
..expandCone-Rod Dystrophy 5 (C563415)
..expandCone-Rod Dystrophy 7 (C566350)
..expandCone-Rod Dystrophy 8 (C565322)
..expandCONE-ROD DYSTROPHY AND HEARING LOSS (OMIM:617236)
..expandCone-Rod Dystrophy, X-Linked, 2 (C564717)
..expandCone-Rod Dystrophy, X-Linked, 3 (C564507)
..expandCone-Rod Dystrophy, X-Linked, Type 1 (C564438)
..expandCutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness (C565306)
..expandDeafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities (C567467)
..expandFlynn Aird syndrome (C537066)
..expandFurukawa Takagi Nakao syndrome (C538193)
..expandHardikar syndrome (C535632)
..expandKearns-Sayre Syndrome (D007625) Child1  LSDB  L: 00143;
..expandLeber Congenital Amaurosis 14 (C567636)
..expandLeber Congenital Amaurosis 3 (C565814)
..expandLight Fixation Seizure Syndrome (C566367)
..expandMACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT (OMIM:616170)
..expandMainzer-Saldino Disease (C535463)
..expandMeckel syndrome type 1 (C536133)
..expandMental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration (C566429)
..expandMetaphyseal Chondrodysplasia with Retinitis Pigmentosa (C565398)
..expandMicrocephaly, Retinitis Pigmentosa, and Sutural Cataract (C563296)
..expandMICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
..expandMicrophthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen (C567024)
..expandMirhosseini-Holmes-Walton syndrome (C538367)
..expandMuscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus (C562774)
..expandNeuropathy ataxia and retinitis pigmentosa (C537396)  LSDB  L: 00168;
..expandNewfoundland Rod-Cone Dystrophy (C564391)
..expandOculotrichodysplasia (C564934)
..expandOliver-McFarlane syndrome (C536554)
..expandPallidal Degeneration, Progressive, with Retinitis Pigmentosa (C564910)
..expandPeripheral Cone Dystrophy (C563813)
..expandPolyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract (C567203)
..expandPosterior column ataxia with retinitis pigmentosa (C536343)
..expandRadioulnar synostosis retinal pigment abnormalities (C536270)
..expandRetinal cone dystrophy 2 (C538363)
..expandRetinal Cone Dystrophy 3A (C566483)
..expandRetinal Cone Dystrophy 3B (C563678)
..expandRetinal Cone Dystrophy 4 (C566470)
..expandRetinitis pigmentosa 1 (C538365)
..expandRetinitis Pigmentosa 10 (C566715)
..expandRetinitis Pigmentosa 11 (C563991)
..expandRetinitis Pigmentosa 12 (C563999)
..expandRetinitis Pigmentosa 13 (C564008)
..expandRetinitis Pigmentosa 14 (C563992)
..expandRetinitis Pigmentosa 17 (C563437)
..expandRetinitis Pigmentosa 18 (C563320)
..expandRetinitis Pigmentosa 19 (C566637)
..expandRetinitis Pigmentosa 2 (C567523)
..expandRetinitis Pigmentosa 20 (C566718)
..expandRETINITIS PIGMENTOSA 22 (OMIM:602594)
..expandRETINITIS PIGMENTOSA 23 (OMIM:300424)
..expandRETINITIS PIGMENTOSA 24 (OMIM:300155)
..expandRetinitis Pigmentosa 25 (C566425)
..expandRetinitis Pigmentosa 26 (C564249)
..expandRetinitis Pigmentosa 27 (C563526)
..expandRETINITIS PIGMENTOSA 28 (OMIM:606068)
..expandRetinitis Pigmentosa 29 (C567403)
..expandRetinitis Pigmentosa 3 (C564520)
..expandRetinitis Pigmentosa 30 (C564310)
..expandRetinitis Pigmentosa 31 (C563685)
..expandRetinitis Pigmentosa 32 (C563689)
..expandRetinitis Pigmentosa 33 (C563676)
..expandRetinitis Pigmentosa 34 (C564475)
..expandRetinitis Pigmentosa 35 (C565206)
..expandRetinitis Pigmentosa 36 (C566431)
..expandRetinitis Pigmentosa 37 (C567005)
..expandRETINITIS PIGMENTOSA 38 (OMIM:613862)
..expandRETINITIS PIGMENTOSA 39 (OMIM:613809)
..expandRetinitis Pigmentosa 4 (C566706)
..expandRETINITIS PIGMENTOSA 40 (OMIM:613801)
..expandRetinitis Pigmentosa 41 (C567422)
..expandRetinitis Pigmentosa 42 (C567854)
..expandRETINITIS PIGMENTOSA 43 (OMIM:613810)
..expandRETINITIS PIGMENTOSA 44 (OMIM:613769)
..expandRETINITIS PIGMENTOSA 45 (OMIM:613767)
..expandRetinitis Pigmentosa 46 (C567249)
..expandRETINITIS PIGMENTOSA 47 (OMIM:613758)
..expandRETINITIS PIGMENTOSA 48 (OMIM:613827)
..expandRETINITIS PIGMENTOSA 49 (OMIM:613756)
..expandRETINITIS PIGMENTOSA 50 (OMIM:613194)
..expandRETINITIS PIGMENTOSA 51 (OMIM:613464)
..expandRETINITIS PIGMENTOSA 54 (OMIM:613428)
..expandRETINITIS PIGMENTOSA 55 (OMIM:613575)
..expandRETINITIS PIGMENTOSA 56 (OMIM:613581)
..expandRETINITIS PIGMENTOSA 57 (OMIM:613582)
..expandRETINITIS PIGMENTOSA 58 (OMIM:613617)
..expandRETINITIS PIGMENTOSA 59 (OMIM:613861)
..expandRetinitis Pigmentosa 6 (C564065)
..expandRETINITIS PIGMENTOSA 60 (OMIM:613983)
..expandRETINITIS PIGMENTOSA 61 (OMIM:614180)
..expandRETINITIS PIGMENTOSA 62 (OMIM:614181)
..expandRETINITIS PIGMENTOSA 66 (OMIM:615233)
..expandRETINITIS PIGMENTOSA 67 (OMIM:615565)
..expandRETINITIS PIGMENTOSA 68 (OMIM:615725)
..expandRETINITIS PIGMENTOSA 69 (OMIM:615780)
..expandRetinitis Pigmentosa 7 (C564284)
..expandRetinitis Pigmentosa 7 With Bull'S-Eye Maculopathy (C567264)
..expandRetinitis Pigmentosa 7, Digenic (C567263)
..expandRETINITIS PIGMENTOSA 70 (OMIM:615922)
..expandRETINITIS PIGMENTOSA 71 (OMIM:616394)
..expandRETINITIS PIGMENTOSA 72 (OMIM:616469)
..expandRETINITIS PIGMENTOSA 73 (OMIM:616544)
..expandRETINITIS PIGMENTOSA 74 (OMIM:616562)
..expandRETINITIS PIGMENTOSA 75 (OMIM:617023)
..expandRETINITIS PIGMENTOSA 76 (OMIM:617123)
..expandRETINITIS PIGMENTOSA 77 (OMIM:617304)
..expandRETINITIS PIGMENTOSA 78 (OMIM:617433)
..expandRETINITIS PIGMENTOSA 79 (OMIM:617460)
..expandRETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS (OMIM:615434)
..expandRetinitis Pigmentosa 9 (C566716)
..expandRETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS (OMIM:616959)
..expandRetinitis Pigmentosa Inversa with Deafness (C564842)
..expandRetinitis Pigmentosa with Paraarteriolar Preservation Of Retinal Pigment Epithelium (C564000)
..expandRetinitis Pigmentosa, Concentric (C567712)
..expandRetinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism (C564841)
..expandRetinitis Pigmentosa, Late-Adult Onset (C564840)
..expandRetinitis Pigmentosa, Late-Onset Dominant (C567369)
..expandRetinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness (C567595)
..expandRetinitis Pigmentosa, Y-Linked (C564035)
..expandRetinopathy, Pericentral Pigmentary, Autosomal Recessive (C564838)
..expandRhizomelic dysplasia, scoliosis, and retinitis pigmentosa (C537610)
..expandRHYNS syndrome (C537612)
..expandRod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction (C564829)
..expandSenior-Loken syndrome 4 (C537581)
..expandSkeletal Dysplasia, Rhizomelic, with Retinitis Pigmentosa (C563806)
..expandSpastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation (C564808)
..expandSpondylometaphyseal Dysplasia with Cone-Rod Dystrophy (C563825)
..expandTapetoretinal Degeneration with Ataxia (C564788)
..expandUsher Syndromes (D052245) Child19  LSDB  L: 00160;
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:7512
Name:Meckel syndrome type 1
Definition:
Alternative IDs:OMIM:249000
ParentIDs:MESH:D002925|MESH:D004677|MESH:D007690|MESH:D012174
TreeNumbers:C08.200/C536133 |C09.150/C536133 |C10.500.680.488/C536133 |C11.270.684/C536133 |C11.768.585.658.500/C536133 |C12.777.419.403.875/C536133 |C13.351.968.419.403.875/C536133 |C16.131.077.245.500/C536133 |C16.131.077.717/C536133 |C16.131.666.680.488/C536133 |C16.320.18
Synonyms:Dysencephalia splachnocystica |Dysencephalia Splanchnocystica |Gruber syndrome |Meckel Gruber syndrome |Meckel-Gruber Syndrome |Meckel-Gruber Syndrome, Type 1 |Meckel Syndrome |Meckel syndrome type1 |Meckel Syndrome, Type 1 |MES |MKS |MKS1
Slim Mappings:Congenital abnormality|Ear-nose-throat disease|Eye disease|Genetic disease (inborn)|Nervous system disease|Pathology (anatomical condition)|Respiratory tract disease|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: C536133
MeSH: C536133
OMIM: 249000;
MSeqDR LSDB:  
Genes: MKS1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001671Abnormal cardiac septum morphology
3 HP:0001600Abnormality of the larynx
4 HP:0000069Abnormality of the ureter
5 HP:0000130Abnormality of the uterus
6 HP:0001747Accessory spleen
7 HP:0000835Adrenal hypoplasia
8 HP:0001274Agenesis of corpus callosum
9 HP:0000061Ambiguous genitalia, female
10 HP:0000033Ambiguous genitalia, male
11 HP:0002023Anal atresia
12 HP:0002323Anencephaly
13 HP:0002308Arnold-Chiari malformation
14 HP:0001746Asplenia
15 HP:0001408Bile duct proliferation
16 HP:0006487Bowing of the long bones
17 HP:0001623Breech presentation
18 HP:0001321Cerebellar hypoplasia
19 HP:0006872Cerebral hypoplasia
20 HP:0000175Cleft palate
21 HP:0000204Cleft upper lip
22 HP:0030084Clinodactyly
23 HP:0001680Coarctation of aorta
24 HP:0000028Cryptorchidism
25 HP:0001305Dandy-Walker malformation
26 HP:0004639Elevated amniotic fluid alpha-fetoprotein
27 HP:0003241External genital hypoplasia
28 HP:0001829Foot polydactyly
29 HP:0000238Hydrocephalus
30 HP:0000316Hypertelorism
31 HP:0005343Hypoplasia of the bladder
32 HP:0000601Hypotelorism
33 HP:0002566Intestinal malrotation
34 HP:0001511Intrauterine growth retardation
35 HP:0000612Iris coloboma
36 HP:0006267Large placenta
37 HP:0000180Lobulated tongue
38 HP:0000369Low-set ears
39 HP:0000252Microcephaly
40 HP:0000347Micrognathia
41 HP:0000568Microphthalmia
42 HP:0000695Natal tooth
43 HP:0002085Occipital encephalocele
44 HP:0001341Olfactory lobe agenesis
45 HP:0001562Oligohydramnios
46 HP:0001539Omphalocele
47 HP:0001643Patent ductus arteriosus
48 HP:0000113Polycystic kidney dysplasia
49 HP:0001162Postaxial hand polydactyly
50 HP:0002089Pulmonary hypoplasia
51 HP:0009466Radial deviation of finger
52 HP:0000104Renal agenesis
53 HP:0000470Short neck
54 HP:0001195Single umbilical artery
55 HP:0000340Sloping forehead
56 HP:0001744Splenomegaly
57 HP:0001159Syndactyly
58 HP:0001883Talipes
59 HP:0000465Webbed neck
60 HP:0000154Wide mouth
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_017777.4(MKS1):c.*603T>G54903MKS1Uncertain significance-1RCV001126160|RCV001126161; NMONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110175628283756282837AC17:g.56282837A>C-
NM_017777.4(MKS1):c.*594T>G54903MKS1Uncertain significance-1RCV001126162|RCV001128236; NMONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175628284656282846AC17:g.56282846A>C-
NM_017777.4(MKS1):c.*472C>G54903MKS1Benign/Likely benign-1RCV001128237|RCV001128238; NMONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175628296856282968GC17:g.56282968G>C-
NM_001165927.1(MKS1):c.*469C>T54903MKS1Uncertain significancers386465709RCV000278556|RCV000390026; NMONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175628297156282971GA17:g.56282971G>AClinGen:CA8669030
NM_017777.4(MKS1):c.*415G>A54903MKS1Uncertain significance-1RCV001128239|RCV001128240; NMONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175628302556283025CT17:g.56283025C>T-
NM_001165927.1(MKS1):c.*414C>T54903MKS1Benignrs2302313RCV000342948|RCV000392540; NMONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175628302656283026GA17:g.56283026G>AClinGen:CA8669033
NM_001165927.1(MKS1):c.*381A>G54903MKS1Uncertain significancers886053168RCV000303235|RCV000357567; NMONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110175628305956283059TC17:g.56283059T>CClinGen:CA10649657
NM_001165927.1(MKS1):c.*322G>T54903MKS1Uncertain significancers185405908RCV000308647|RCV000392532; NMONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175628311856283118CA17:g.56283118C>AClinGen:CA10650548
NM_017777.4(MKS1):c.*134C>T54903MKS1Conflicting interpretations of pathogenicity-1RCV001122510|RCV001122511; NMONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175628330656283306GA17:g.56283306G>A-
NM_001165927.1(MKS1):c.*75C>T54903MKS1Benignrs35184412RCV000269059|RCV000363357; NMONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175628336556283365GA17:g.56283365G>AClinGen:CA10650550
NM_017777.4(MKS1):c.*49C>A54903MKS1Uncertain significance-1RCV001125293|RCV001125294; NMONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175628339156283391GT17:g.56283391G>T-
NM_001165927.1(MKS1):c.1641G>C (p.Leu547=)54903MKS1Benignrs11548967RCV000114212|RCV000333453|RCV000369432|RCV000860459; NMedGen:CN169374|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Human Phenotype Ontology:HP:0002335,Human Phenotype 175628344956283449CG17:g.56283449C>GClinGen:CA150933C0752166 Bardet-Biedl syndrome;
NM_001165927.1(MKS1):c.1610C>T (p.Pro537Leu)54903MKS1Uncertain significancers771585740RCV000175339|RCV001125295|RCV001125296|RCV001242967; NMedGen:CN517202|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Human Phenotype Ontology:HP:0002335,Human Phenotype 175628348056283480GA17:g.56283480G>AClinGen:CA241063CN169374 not specified;
NM_001165927.1(MKS1):c.1591G>T (p.Glu531Ter)54903MKS1Uncertain significancers1555596538RCV000665955; NMONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110; MONDO:MONDO:0014928,MedGen:C4310705,OMIM:617121; MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175628349956283499CA17:g.56283499C>A-C2673873 615990 Bardet-Biedl syndrome 13;
NM_001165927.1(MKS1):c.1584del (p.Met529fs)54903MKS1Uncertain significancers1555596555RCV000670665; NMONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110; MONDO:MONDO:0014928,MedGen:C4310705,OMIM:617121; MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175628350656283506TGT17:g.56283506_56283506del-C2673873 615990 Bardet-Biedl syndrome 13;
NM_001165927.1(MKS1):c.1570C>A (p.Arg524=)54903MKS1Likely benignrs772719574RCV000254542|RCV000664641; NMedGen:CN169374|MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110; MONDO:MONDO:0014928,MedGen:C4310705,OMIM:617121; MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175628352056283520GT17:g.56283520G>TClinGen:CA8669064C2673873 615990 Bardet-Biedl syndrome 13;
NM_001165927.1(MKS1):c.1570C>T (p.Arg524Ter)54903MKS1Uncertain significancers772719574RCV000669895|RCV001201422; NMONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110; MONDO:MONDO:0014928,MedGen:C4310705,OMIM:617121; MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Human Phenotype Onto175628352056283520GA17:g.56283520G>A-C2673873 615990 Bardet-Biedl syndrome 13;
NM_017777.4(MKS1):c.1598G>A (p.Arg533His)54903MKS1Uncertain significance-1RCV001125297|RCV001126262; NMONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110175628352256283522CT17:g.56283522C>T-
NM_017777.4(MKS1):c.1589-3C>T54903MKS1Uncertain significance-1RCV001126263|RCV001126264|RCV001246475; NMONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:175628353456283534GA17:g.56283534G>A-
NM_001165927.1(MKS1):c.1558+12C>G54903MKS1Likely benignrs762501967RCV000249546|RCV000671166; NMedGen:CN169374|MONDO:MONDO:0014928,MedGen:C4310705,OMIM:617121; MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564; MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110175628363256283632GC17:g.56283632G>CClinGen:CA10587272C2673873 615990 Bardet-Biedl syndrome 13;
NM_001165927.1(MKS1):c.1513C>T (p.Arg505Cys)54903MKS1Uncertain significancers775558298RCV000274828|RCV000319889|RCV000462710|RCV000593412|RCV000666621; NMONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007175628368956283689GA17:g.56283689G>AClinGen:CA8669091
NM_001165927.1(MKS1):c.1501_1504del (p.Ser501fs)54903MKS1Uncertain significancers1555596710RCV000667132; NMONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110; MONDO:MONDO:0014928,MedGen:C4310705,OMIM:617121; MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175628369856283701ACACTA17:g.56283698_56283701del-C2673873 615990 Bardet-Biedl syndrome 13;
NM_001165927.1(MKS1):c.1476G>A (p.Ser492=)54903MKS1Conflicting interpretations of pathogenicityrs368535131RCV000175214|RCV000280084|RCV000374576|RCV001087215; NMedGen:CN517202|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Human Phenotype Ontology:HP:0002335,Human Phenotype 175628372656283726CT17:g.56283726C>TClinGen:CA240920C0752166 Bardet-Biedl syndrome;
NM_001165927.1(MKS1):c.1468A>G (p.Met490Val)54903MKS1Conflicting interpretations of pathogenicityrs144635826RCV000316438|RCV000380158|RCV000513283|RCV001084685; NMONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MedGen:CN517202|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS175628373456283734TC17:g.56283734T>CClinGen:CA8669097C0752166 Bardet-Biedl syndrome;
NM_001165927.1(MKS1):c.1467del (p.Phe489fs)54903MKS1Uncertain significancers780161503RCV000671499; NMONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110; MONDO:MONDO:0014928,MedGen:C4310705,OMIM:617121; MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175628373556283735TGT17:g.56283735_56283735del-C2673873 615990 Bardet-Biedl syndrome 13;
NM_001165927.1(MKS1):c.1460G>A (p.Arg487Lys)54903MKS1Likely pathogenicrs386834045RCV000050031; NMONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175628382656283826CT17:g.56283826C>TClinGen:CA344745C3714506 249000 Meckel syndrome type 1;
NM_001165927.1(MKS1):c.1404_1432del (p.Arg469fs)54903MKS1Likely pathogenicrs1555596845RCV000673842; NMONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110; MONDO:MONDO:0014928,MedGen:C4310705,OMIM:617121; MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175628385456283882AAGGTGACAGTGCCTGTGGTCTCTGTGCGGA17:g.56283854_56283882del-C2673873 615990 Bardet-Biedl syndrome 13;
NM_001165927.1(MKS1):c.1420_1423dup (p.Thr475fs)54903MKS1Pathogenic/Likely pathogenicrs386834044RCV000050030|RCV000230084|RCV000340753|RCV000984282|RCV000984283|RCV001063563; NMONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475|MedGen:CN239382|MONDO:MONDO:0014441,MedGen:C2673873,OMIM:175628386256283863GGTGCC17:g.56283862_56283863insTGCCClinGen:CA344744C0431399 Joubert syndrome;
NM_001165927.1(MKS1):c.1384C>T (p.Arg462Cys)54903MKS1Uncertain significancers181513926RCV000286170|RCV000780412|RCV001271768; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175628390256283902GA17:g.56283902G>AClinGen:CA8669128CN169374 not specified;
NM_001165927.1(MKS1):c.1384C>G (p.Arg462Gly)54903MKS1Uncertain significancers181513926RCV000812860|RCV001272921; NHuman Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475; MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000,Orphane175628390256283902GC17:g.56283902G>C-
NM_017777.4(MKS1):c.1408-1dup54903MKS1Pathogenicrs762668200RCV000501226|RCV000823733; NMONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphane175628390456283905TTC17:g.56283904_56283905insCClinGen:CA8669130
NM_001165927.1(MKS1):c.1378-2A>G54903MKS1Likely pathogenicrs1555596943RCV000672643; NMONDO:MONDO:0014928,MedGen:C4310705,OMIM:617121; MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564; MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110175628391056283910TC17:g.56283910T>C-C2673873 615990 Bardet-Biedl syndrome 13;
NM_001165927.1(MKS1):c.1378-34_1378-6del54903MKS1Conflicting interpretations of pathogenicityrs386834043RCV000168467|RCV000210823|RCV000273342|RCV000491550|RCV000984005; NHuman Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475; MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000,Orphane175628391456283942GGCATGCCATTGGGACAGCCTCAGGTTTCTG17:g.56283914_56283942delClinGen:CA334784,OMIM:609883.0001C2673873 615990 Bardet-Biedl syndrome 13;
NM_017777.4(MKS1):c.1408-15A>G54903MKS1Uncertain significance-1RCV001128314|RCV001128315; NMONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110175628392356283923TC17:g.56283923T>C-
NM_001165927.1(MKS1):c.1377+3_1377+5delinsAAT54903MKS1Uncertain significancers1555597194RCV000670799; NMONDO:MONDO:0014928,MedGen:C4310705,OMIM:617121; MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564; MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110175628444156284443GTCATTNC_000017.10:g.56284441_56284443delinsATT-C2673873 615990 Bardet-Biedl syndrome 13;
NM_001165927.1(MKS1):c.1377+2del54903MKS1Likely pathogenicrs386834042RCV000050028; NMONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175628444456284444CAC17:g.56284444_56284444delClinGen:CA344743C3714506 249000 Meckel syndrome type 1;
NM_001165927.1(MKS1):c.1364del (p.Pro455fs)54903MKS1Pathogenic/Likely pathogenicrs865870355RCV000410219|RCV000410881|RCV000412320|RCV001213563; NMONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110|MONDO:MONDO:0014928,MedGen:C4310705,OMIM:617121|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO175628445956284459TGT17:g.56284459_56284459delClinGen:CA16041856
NM_001165927.1(MKS1):c.1358G>A (p.Arg453Gln)54903MKS1Conflicting interpretations of pathogenicityrs201619500RCV000285730|RCV000335464|RCV000400230|RCV000514906|RCV001083793|RCV001094550; NMONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MedGen:CN169374|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MedGen:CN517202|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Human Phenotype Ontology:HP:000233175628446556284465CT17:g.56284465C>TClinGen:CA8669152C0752166 Bardet-Biedl syndrome;
NM_001165927.1(MKS1):c.1352A>G (p.Tyr451Cys)54903MKS1Uncertain significancers730882120RCV000161134|RCV000670058; NMONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564; MONDO:MONDO:0014928,MedGen:C4310705,OMIM:617121; MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110175628447156284471TC17:g.56284471T>CClinGen:CA273751,OMIM:609883.0008
NM_001165927.1(MKS1):c.1301_1315del (p.Glu434_Phe439delinsVal)54903MKS1Uncertain significancers1555597266RCV000668262; NMONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110; MONDO:MONDO:0014928,MedGen:C4310705,OMIM:617121; MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175628450856284522AAAAACCTCCTCAGCTA17:g.56284508_56284522del-C2673873 615990 Bardet-Biedl syndrome 13;
NM_001165927.1(MKS1):c.1292C>T (p.Thr431Met)54903MKS1Uncertain significancers367625961RCV000291999|RCV000346858|RCV000592032; NMONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110|MedGen:CN517202175628453156284531GA17:g.56284531G>AClinGen:CA8669167
NM_001165927.1(MKS1):c.1258_1284del (p.Thr420_Glu428del)54903MKS1Uncertain significancers1555597302RCV000672241; NMONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110; MONDO:MONDO:0014928,MedGen:C4310705,OMIM:617121; MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175628453956284565GCTCCACAGGTCTCCACGTGGAGACTGTG17:g.56284539_56284565del-C2673873 615990 Bardet-Biedl syndrome 13;
NM_017777.4(MKS1):c.1273+12T>A54903MKS1Uncertain significance-1RCV001122599|RCV001122600; NMONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110175628524356285243AT17:g.56285243A>T-
NM_001165927.1(MKS1):c.1243+11G>A54903MKS1Benignrs16942826RCV000246744|RCV001122601|RCV001122602; NMedGen:CN169374|MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175628524456285244CT17:g.56285244C>TClinGen:CA8669213CN169374 not specified;
NM_001165927.1(MKS1):c.1243+6C>T54903MKS1Uncertain significancers371480628RCV000513775|RCV001272922; NMedGen:CN517202|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175628524956285249GA17:g.56285249G>AClinGen:CA8669216CN517202 not provided;
NM_017777.4(MKS1):c.1273+4A>G54903MKS1Uncertain significance-1RCV001122603|RCV001123683; NMONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175628525156285251TC17:g.56285251T>C-
NM_001165927.1(MKS1):c.1238C>T (p.Thr413Ile)54903MKS1Uncertain significancers760184188RCV000674523; NMONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110; MONDO:MONDO:0014928,MedGen:C4310705,OMIM:617121; MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175628526056285260GA17:g.56285260G>A-C2673873 615990 Bardet-Biedl syndrome 13;
NM_001165927.1(MKS1):c.1223T>C (p.Val408Ala)54903MKS1Uncertain significancers886053169RCV000307167|RCV000401138; NMONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175628527556285275AG17:g.56285275A>GClinGen:CA10640068
NM_001165927.1(MKS1):c.1178C>T (p.Ser393Leu)54903MKS1Pathogenic/Likely pathogenicrs773684291RCV000201754|RCV000479872|RCV000984284|RCV000984285|RCV000984286; NHuman Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475|MedGen:CN517202|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MONDO:MONDO:0014441,MedGen:C2673873,OMIM:175628532056285320GA17:g.56285320G>AClinGen:CA210326C0431399 Joubert syndrome;
NM_001165927.1(MKS1):c.1136-2A>G54903MKS1Likely pathogenicrs1488635637RCV000672973; NMONDO:MONDO:0014928,MedGen:C4310705,OMIM:617121; MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564; MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110175628536456285364TC17:g.56285364T>C-C2673873 615990 Bardet-Biedl syndrome 13;
NM_017777.4(MKS1):c.1121C>T (p.Pro374Leu)54903MKS1Uncertain significance-1RCV001207500|RCV001278506; NMONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000,Orphane175628551056285510GA17:g.56285510G>A-
NM_017777.4(MKS1):c.1090G>C (p.Ala364Pro)54903MKS1Uncertain significance-1RCV001057720|RCV001272924; NMONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000,Orphane175628587956285879CG17:g.56285879C>G-
NM_001165927.1(MKS1):c.1046_1048CCA[1] (p.Thr350del)54903MKS1Uncertain significancers1555598065RCV000666860; NMONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110; MONDO:MONDO:0014928,MedGen:C4310705,OMIM:617121; MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175628588856285890TTGGT17:g.56285888_56285890del-C2673873 615990 Bardet-Biedl syndrome 13;
NM_001165927.1(MKS1):c.1033A>G (p.Thr345Ala)54903MKS1Conflicting interpretations of pathogenicityrs745809472RCV000243397|RCV000665282; NMedGen:CN169374|MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110; MONDO:MONDO:0014928,MedGen:C4310705,OMIM:617121; MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175628590656285906TC17:g.56285906T>CClinGen:CA8669296C2673873 615990 Bardet-Biedl syndrome 13;
NM_001165927.1(MKS1):c.1025C>T (p.Ser342Leu)54903MKS1Uncertain significancers1293609717RCV000520954|RCV001278507; NMedGen:CN517202|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175628591456285914GA17:g.56285914G>AClinGen:CA400325858CN169374 not specified;
NM_001165927.1(MKS1):c.1018C>G (p.Gln340Glu)54903MKS1Likely pathogenicrs386834041RCV000050026; NMONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175628592156285921GC17:g.56285921G>CClinGen:CA344733C3714506 249000 Meckel syndrome type 1;
NM_001165927.1(MKS1):c.1018C>T (p.Gln340Ter)54903MKS1Likely pathogenicrs386834041RCV000050027; NMONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175628592156285921GA17:g.56285921G>AClinGen:CA344738C3714506 249000 Meckel syndrome type 1;
NM_001165927.1(MKS1):c.995-2A>C54903MKS1Pathogenic/Likely pathogenicrs794727070RCV000174384|RCV000671535; NMedGen:CN517202|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564; MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110; MONDO:MONDO:0014928,MedGen:C4310705,OMIM:617121175628594656285946TG17:g.56285946T>GClinGen:CA346858C2673873 615990 Bardet-Biedl syndrome 13;
NM_017777.4(MKS1):c.1024+10A>G54903MKS1Likely benignrs749001732RCV000869390|RCV001272925; NHuman Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475; MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000,Orphane175628801056288010TC17:g.56288010T>C-
NM_001165927.1(MKS1):c.994+1G>A54903MKS1Pathogenic/Likely pathogenicrs199874059RCV000022414|RCV000668139|RCV001038005; NMONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MONDO:MONDO:0014928,MedGen:C4310705,OMIM:617121; MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110; MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MONDO:MONDO:0018921,Me175628801956288019CT17:g.56288019C>TOMIM:609883.0004,ClinGen:CA342696C2673873 615990 Bardet-Biedl syndrome 13;
NM_001165927.1(MKS1):c.984G>A (p.Leu328=)54903MKS1Conflicting interpretations of pathogenicityrs201998680RCV000251480|RCV000371335|RCV000392760|RCV000863475; NMedGen:CN169374|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS175628803056288030CT17:g.56288030C>TClinGen:CA8669311C0752166 Bardet-Biedl syndrome;
NM_001165927.1(MKS1):c.928G>A (p.Val310Ile)54903MKS1Conflicting interpretations of pathogenicityrs386834053RCV000050040|RCV000735097|RCV000735871; NMONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MedGen:CN517202|MONDO:MONDO:0013446,MedGen:C1854260,OMIM:613826, Orphanet:65; MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175628834156288341CT17:g.56288341C>TClinGen:CA344764C3714506 249000 Meckel syndrome type 1;
NM_001165927.1(MKS1):c.828+9A>G54903MKS1Benignrs3826300RCV000114214|RCV000313219|RCV000367861|RCV000860208; NMedGen:CN169374|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Human Phenotype Ontology:HP:0002335,Human Phenotype 175629033456290334TC17:g.56290334T>CClinGen:CA150939C0752166 Bardet-Biedl syndrome;
NM_017777.4(MKS1):c.858+6C>T54903MKS1Uncertain significance-1RCV001070002|RCV001271772; NMONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000,Orphane175629033756290337GA17:g.56290337G>A-
NM_001165927.1(MKS1):c.828+1G>A54903MKS1Likely pathogenicrs756102768RCV000672305; NMONDO:MONDO:0014928,MedGen:C4310705,OMIM:617121; MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564; MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110175629034256290342CT17:g.56290342C>T-C2673873 615990 Bardet-Biedl syndrome 13;
NM_001165927.1(MKS1):c.827A>G (p.Asp276Gly)54903MKS1Uncertain significancers151023718RCV000514949|RCV000664898|RCV000690393|RCV000989953|RCV001126360; NMedGen:CN517202|MONDO:MONDO:0014928,MedGen:C4310705,OMIM:617121; MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564; MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:000175629034456290344TC17:g.56290344T>CClinGen:CA8669389C2673873 615990 Bardet-Biedl syndrome 13;
NM_001165927.1(MKS1):c.814C>T (p.Arg272Ter)54903MKS1Pathogenic/Likely pathogenicrs797045706RCV000194216|RCV000672938; NMONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MONDO:MONDO:0014928,MedGen:C4310705,OMIM:617121; MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564; MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110175629035756290357GA17:g.56290357G>AClinGen:CA347417
NM_001165927.1(MKS1):c.812G>C (p.Arg271Pro)54903MKS1Uncertain significancers794727927RCV000180343|RCV001279282; NMedGen:CN517202|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175629035956290359CG17:g.56290359C>GClinGen:CA247757CN169374 not specified;
NM_001165927.1(MKS1):c.793_795GAG[5] (p.Glu268dup)54903MKS1Uncertain significancers780100856RCV000671511; NMONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110; MONDO:MONDO:0014928,MedGen:C4310705,OMIM:617121; MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175629036656290367GGCTC17:g.56290366_56290367insCTC-C2673873 615990 Bardet-Biedl syndrome 13;
NM_001165927.1(MKS1):c.799G>T (p.Glu267Ter)54903MKS1Pathogenic/Likely pathogenicrs1555599412RCV000670245|RCV000701980; NMONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110; MONDO:MONDO:0014928,MedGen:C4310705,OMIM:617121; MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Human Phenotype Onto175629037256290372CA17:g.56290372C>A-C2673873 615990 Bardet-Biedl syndrome 13;
NM_001165927.1(MKS1):c.783C>T (p.His261=)54903MKS1Conflicting interpretations of pathogenicityrs201961765RCV000262761|RCV000408617|RCV000596764|RCV001088004|RCV001126361; NMONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MedGen:CN517202|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Human Phenotype Ontology:HP:0002335,Human Phenotyp175629038856290388GA17:g.56290388G>AClinGen:CA8669402
NM_001165927.1(MKS1):c.783C>A (p.His261Gln)54903MKS1Uncertain significancers201961765RCV000734184|RCV001126362|RCV001126363; NMedGen:CN517202|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110175629038856290388GT17:g.56290388G>T-
NM_017777.4(MKS1):c.811C>G (p.His271Asp)54903MKS1Uncertain significance-1RCV001055825|RCV001272927; NHuman Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475; MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000,Orphane175629039056290390GC17:g.56290390G>C-
NM_001165927.1(MKS1):c.741G>A (p.Lys247=)54903MKS1Likely benignrs886038632RCV000245481|RCV000673432; NMedGen:CN169374|MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110; MONDO:MONDO:0014928,MedGen:C4310705,OMIM:617121; MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175629043056290430CT17:g.56290430C>TClinGen:CA10587273C2673873 615990 Bardet-Biedl syndrome 13;
NM_001165927.1(MKS1):c.733G>T (p.Gly245Trp)54903MKS1Uncertain significancers201237547RCV000299237|RCV000354135; NMONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110175629043856290438CA17:g.56290438C>AClinGen:CA8669414
NM_001165927.1(MKS1):c.699G>T (p.Thr233=)54903MKS1Uncertain significancers373491923RCV000260241|RCV000324797; NMONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175629114656291146CA17:g.56291146C>AClinGen:CA8669437
NM_001165927.1(MKS1):c.614+8G>T54903MKS1Conflicting interpretations of pathogenicityrs370117125RCV000266041|RCV000379306|RCV000443044|RCV000861689; NMONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MedGen:CN169374|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Human Phenotype Ontology:HP:0002335,Human Phenotype 175629161256291612CA17:g.56291612C>AClinGen:CA8669457
NM_001165927.1(MKS1):c.549C>G (p.Asn183Lys)54903MKS1Uncertain significancers1206983556RCV000592910|RCV001279283; NMedGen:CN517202|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175629168556291685GC17:g.56291685G>CClinGen:CA400326963CN169374 not specified;
NM_001165927.1(MKS1):c.508C>T (p.Arg170Cys)54903MKS1Uncertain significancers559966703RCV000502261|RCV000732564|RCV001122694|RCV001122695; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175629172656291726GA17:g.56291726G>AClinGen:CA8669475CN169374 not specified;
NM_001165927.1(MKS1):c.485+12C>T54903MKS1Conflicting interpretations of pathogenicityrs372527189RCV000248513|RCV001122696|RCV001122697; NMedGen:CN169374|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110175629209056292090GA17:g.56292090G>AClinGen:CA8669498
NM_001165927.1(MKS1):c.485+2T>G54903MKS1Likely pathogenicrs1376664664RCV000669368; NMONDO:MONDO:0014928,MedGen:C4310705,OMIM:617121; MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564; MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110175629210056292100AC17:g.56292100A>C-C2673873 615990 Bardet-Biedl syndrome 13;
NM_001165927.1(MKS1):c.485+1G>A54903MKS1Pathogenic/Likely pathogenicrs201933838RCV000050037|RCV000671081|RCV001220121; NMONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110; MONDO:MONDO:0014928,MedGen:C4310705,OMIM:617121; MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MONDO:MONDO:0018921,Me175629210156292101CT17:g.56292101C>TClinGen:CA344762C2673873 615990 Bardet-Biedl syndrome 13;
NM_001165927.1(MKS1):c.478C>T (p.Arg160Ter)54903MKS1Pathogenic/Likely pathogenicrs756853299RCV000224251|RCV000668874|RCV001049084; NMedGen:CN517202|MONDO:MONDO:0014928,MedGen:C4310705,OMIM:617121; MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564; MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:000175629210956292109GA17:g.56292109G>AClinGen:CA8669502C2673873 615990 Bardet-Biedl syndrome 13;
NM_017777.4(MKS1):c.498G>T (p.Arg166=)54903MKS1Uncertain significance-1RCV001122698|RCV001122699; NMONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175629211956292119CA17:g.56292119C>A-
NM_001165927.1(MKS1):c.463C>T (p.Arg155Cys)54903MKS1Conflicting interpretations of pathogenicityrs779953982RCV000201596|RCV000675062|RCV001123798|RCV001123799; NHuman Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475|MONDO:MONDO:0014928,MedGen:C4310705,OMIM:617121; MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564; MONDO:MON175629212456292124GA17:g.56292124G>AClinGen:CA210278C2673873 615990 Bardet-Biedl syndrome 13;
NM_001165927.1(MKS1):c.461G>A (p.Arg154His)54903MKS1Conflicting interpretations of pathogenicityrs200149256RCV000321171|RCV000384944|RCV000730592|RCV001086823; NMONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MedGen:CN517202|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Human Phenotype Ontology:HP:0002335,Human Phenotype 175629212656292126CT17:g.56292126C>TClinGen:CA8669506
NM_001165927.1(MKS1):c.442C>T (p.Arg148Ter)54903MKS1Pathogenicrs386834050RCV000050036|RCV000760436; NMONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MedGen:CN517202175629214556292145GA17:g.56292145G>AClinGen:CA344757C3714506 249000 Meckel syndrome type 1;
NM_017777.4(MKS1):c.447C>T (p.Ser149=)54903MKS1Uncertain significance-1RCV001123800|RCV001123801; NMONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110175629217056292170GA17:g.56292170G>A-
NM_001165927.1(MKS1):c.394C>T (p.Gln132Ter)54903MKS1Likely pathogenicrs386834049RCV000050035; NMONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175629219356292193GA17:g.56292193G>AClinGen:CA344752C3714506 249000 Meckel syndrome type 1;
NM_017777.4(MKS1):c.417G>A (p.Glu139=)54903MKS1Conflicting interpretations of pathogenicityrs386834048RCV000022415|RCV000201633|RCV000341018|RCV000605128|RCV000666711|RCV000694137|RCV001123802; NMONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475|MedGen:CN517202|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:175629344956293449CT17:g.56293449C>TClinGen:CA213122,OMIM:609883.0005C2673873 615990 Bardet-Biedl syndrome 13;
NM_017777.4(MKS1):c.407A>C (p.Asn136Thr)54903MKS1Uncertain significance-1RCV001123803|RCV001126447; NMONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175629345956293459TG17:g.56293459T>G-
NM_001165927.1(MKS1):c.360_361CT[1] (p.Asp120_Ser121insTer)54903MKS1Likely pathogenicrs386834047RCV000050033; NMONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175629347356293474CAGC17:g.56293473_56293474delClinGen:CA344751C3714506 249000 Meckel syndrome type 1;
NM_001165927.1(MKS1):c.337dup (p.Arg113fs)54903MKS1Likely pathogenicrs775043799RCV000409586|RCV000411143|RCV000412146; NMONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110|MONDO:MONDO:0014928,MedGen:C4310705,OMIM:617121175629349856293499CCG17:g.56293498_56293499insGClinGen:CA8669555
NM_017777.4(MKS1):c.367C>T (p.Arg123Ter)54903MKS1Pathogenic-1RCV001175216; NMONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175629349956293499GA17:g.56293499G>A-
NM_001165927.1(MKS1):c.233T>C (p.Phe78Ser)54903MKS1Uncertain significancers886053170RCV000290521|RCV000345617; NMONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110175629360356293603AG17:g.56293603A>GClinGen:CA10650554
NM_001165927.1(MKS1):c.203T>G (p.Ile68Ser)54903MKS1Conflicting interpretations of pathogenicityrs786204222RCV000168353|RCV000665745; NMONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000,Orphane175629405556294055AC17:g.56294055A>CClinGen:CA334638C2673873 615990 Bardet-Biedl syndrome 13;
NM_001165927.1(MKS1):c.183C>G (p.Asp61Glu)54903MKS1Conflicting interpretations of pathogenicityrs142813109RCV000177294|RCV000351197|RCV000399365|RCV000514445|RCV001079449; NMedGen:CN169374|MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MedGen:CN517202|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:175629407556294075GC17:g.56294075G>CClinGen:CA346867C0752166 Bardet-Biedl syndrome;
NM_001165927.1(MKS1):c.160+2T>C54903MKS1Likely pathogenicrs375170572RCV000665861|RCV000800425|RCV001274929; NMONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564; MONDO:MONDO:0014928,MedGen:C4310705,OMIM:617121; MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO175629597956295979AG17:g.56295979A>G-
NM_001165927.1(MKS1):c.154_160del (p.Thr52fs)54903MKS1Likely pathogenicrs386834046RCV000050032|RCV000674337; NMONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564; MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110; MONDO:MONDO:0014928,MedGen:C4310705,OMIM:617121175629598156295987CTGGCAGTC17:g.56295981_56295987delClinGen:CA344750C2673873 615990 Bardet-Biedl syndrome 13;
NM_001165927.1(MKS1):c.88C>T (p.His30Tyr)54903MKS1Uncertain significancers199832333RCV000724912|RCV000765374|RCV001062255|RCV001274930; NMedGen:CN517202|MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110; MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564; MONDO:MONDO:0014928,MedGen:C4310705,OMIM:617121|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:000175629605356296053GA17:g.56296053G>AClinGen:CA8669639CN169374 not specified;
NM_001165927.1(MKS1):c.80A>G (p.Asn27Ser)54903MKS1Uncertain significancers587779734RCV000114211|RCV000671334; NMONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564; MONDO:MONDO:0014928,MedGen:C4310705,OMIM:617121; MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110175629606156296061TC17:g.56296061T>CClinGen:CA150928C2673873 615990 Bardet-Biedl syndrome 13;
NM_001165927.1(MKS1):c.72A>G (p.Thr24=)54903MKS1Uncertain significancers886053171RCV000311622|RCV000337010; NMONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110175629606956296069TC17:g.56296069T>CClinGen:CA10646202
NM_017777.4(MKS1):c.81-3C>A54903MKS1Uncertain significance-1RCV001279284; NMONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175629609356296093GT17:g.56296093G>T-
NM_001165927.1(MKS1):c.50+325C>G54903MKS1Conflicting interpretations of pathogenicityrs761061379RCV000297157|RCV000407075|RCV000670260; NMONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MONDO:MONDO:0014928,MedGen:C4310705,OMIM:617121; MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564; MONDO:MONDO:0014441,Me175629649856296498GC17:g.56296498G>CClinGen:CA10646204
NM_001165927.1(MKS1):c.50+313T>C54903MKS1Likely pathogenicrs386834052RCV000022413|RCV000665702; NMONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MONDO:MONDO:0014928,MedGen:C4310705,OMIM:617121; MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110; MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175629651056296510AG17:g.56296510A>GClinGen:CA342695,OMIM:609883.0003C2673873 615990 Bardet-Biedl syndrome 13;
NM_017777.4(MKS1):c.70T>C (p.Leu24=)54903MKS1Likely benignrs538371478RCV000869850|RCV001271775; NHuman Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475; MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000,Orphane175629652256296522AG17:g.56296522A>G-
NM_001165927.1(MKS1):c.50+282_50+286dup54903MKS1Likely pathogenicrs386834051RCV000050038|RCV000672700; NMONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564; MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110; MONDO:MONDO:0014928,MedGen:C4310705,OMIM:617121175629653656296537TTCCCGG17:g.56296536_56296537insCCCGGClinGen:CA344763C2673873 615990 Bardet-Biedl syndrome 13;
NM_001165927.1(MKS1):c.50+281_50+285dup54903MKS1Pathogenicrs730880323RCV000022412; NMONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175629653756296538CCCCGGG17:g.56296537_56296538insCCGGGClinGen:CA342694,OMIM:609883.0002C3714506 249000 Meckel syndrome type 1;
NM_001165927.1(MKS1):c.50+258C>T54903MKS1Conflicting interpretations of pathogenicityrs369488349RCV000266789|RCV000361285|RCV000430551|RCV000728548|RCV001086578; NMONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Human Phenotype Ontology:HP:0002335,175629656556296565GA17:g.56296565G>AClinGen:CA8669667
NM_017777.4(MKS1):c.10A>T (p.Thr4Ser)54903MKS1Uncertain significance-1RCV001128503|RCV001128504|RCV001235048; NMONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:175629658256296582TA17:g.56296582T>A-
NM_001165927.1(MKS1):c.50+232A>G54903MKS1Likely pathogenicrs1555601787RCV000674956; NMONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110; MONDO:MONDO:0014928,MedGen:C4310705,OMIM:617121; MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175629659156296591TC17:g.56296591T>C-C2673873 615990 Bardet-Biedl syndrome 13;
NM_001165927.1(MKS1):c.50+198_50+220del54903MKS1Uncertain significancers1244307754RCV000674010; NMONDO:MONDO:0014928,MedGen:C4310705,OMIM:617121; MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564; MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110175629660356296625ACGCGCCGCGACTGCGCCGGAAAGA17:g.56296603_56296625del-C2673873 615990 Bardet-Biedl syndrome 13;
NM_017777.4(MKS1):c.-15C>G54903MKS1Uncertain significance-1RCV001122799|RCV001128505; NMONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110175629660656296606GC17:g.56296606G>C-
NM_001165927.1(MKS1):c.50+214C>G54903MKS1Benign/Likely benignrs116514023RCV000246536|RCV000303157|RCV000358067; NMedGen:CN169374|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110175629660956296609GC17:g.56296609G>CClinGen:CA8669674C0752166 Bardet-Biedl syndrome;
NM_017777.4(MKS1):c.-20C>G54903MKS1Uncertain significance-1RCV001122800|RCV001122801; NMONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564|MONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110175629661156296611GC17:g.56296611G>C-
NM_001165927.1(MKS1):c.50+168T>C54903MKS1Conflicting interpretations of pathogenicityrs372127517RCV000272730|RCV000327245; NMONDO:MONDO:0014441,MedGen:C2673873,OMIM:615990, Orphanet:110|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:564175629665556296655AG17:g.56296655A>GClinGen:CA10650558
NM_183065.4(TMEM107):c.*755C>T-1TMEM107;SNORD118Uncertain significancers75008470RCV000256206|RCV000714867; NMONDO:MONDO:0013803,MedGen:C3281200,OMIM:614561, Orphanet:542310|MONDO:MONDO:0009571,MedGen:C3714506,OMIM:249000, Orphanet:5641780767668076766GA17:g.8076766G>AClinGen:CA8370553,OMIM:616663.0001
MSeqDR Portal