MSeqDR Mitochondrial Disease Portal


 
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Disease Browser
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Abnormalities, Multiple (D000015)
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Eye Abnormalities (D005124)
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Syndactyly (D013576)
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Urogenital Abnormalities (D014564)
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Fraser Syndrome (D058497)

       Child Nodes:



 Sister Nodes: 
..expandAllanson Pantzar McLeod syndrome (C537048) Child1
..expandANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
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..expandBEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
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..expandBRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS (OMIM:613735)
..expandCakut (C566906)
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..expandCleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly (C563936)
..expandCorpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
..expandCryptorchidism (D003456) Child12
..expandDisorders of Sex Development (D012734) Child107
..expandDK Phocomelia Syndrome (C565618)
..expandDuker Weiss Siber syndrome (C535719)
..expandEpispadias (D004842) Child1
..expandFraser Syndrome (D058497)
..expandFused Kidney (D000069337)
..expandGenitopatellar Syndrome (C565255)
..expandGenitourinary Tract Anomalies (C564424)
..expandHand foot uterus syndrome (C535627)
..expandHemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities (C563935)
..expandHypospadias (D007021) Child17
..expandIntrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies (C564543)
..expandLissencephaly, X-Linked, 2 (C564563)
..expandMicrocephaly seizures genital hypoplasia (C537540)
..expandMicrophthalmia, Syndromic 6 (C566440)
..expandMIRAGE SYNDROME (OMIM:617053)
..expandMulticystic Dysplastic Kidney (D021782) Child2
..expandMyotubular Myopathy with Abnormal Genital Development (C564561)
..expandNephritis, Hereditary (D009394) Child11
..expandNephrosis deafness urinary tract digital malformation (C536402)
..expandNoduli Cutanei, Multiple, with Urinary Tract Abnormalities (C563512)
..expandOmphalocele exstrophy imperforate anus (C537748)
..expandPiepkorn Karp Hickok syndrome (C535774)
..expandPopliteal Pterygium Syndrome (C562509)
..expandProud Syndrome (C563110)
..expandPyelectasis (D058536)
..expandRenal Adysplasia (C563261)
..expandRenal dysplasia - limb defects syndrome (C537754)
..expandRenal, Genital, and Middle Ear Anomalies (C564849)
..expandRetrocaval Ureter (D064749)
..expandRobinow Syndrome, Autosomal Dominant (C562492)
..expandRosselli-Gulienetti Syndrome (C563117)
..expandSolitary Kidney (D000075529)
..expandSplit-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects (C566662)
..expandSpondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies (C564799)
..expandToe Syndactyly, Telecanthus, and Anogenital and Renal Malformations (C567475)
..expandUreter, Bifid Or Double (C566012)
..expandUrinary Fistula (D014548) Child2
..expandUterine Anomalies (C562565)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:4863
Name:Fraser Syndrome
Definition:Rare autosomal recessive congenital malformation syndrome characterized by cryptophthalmos, SYNDACTYLY and UROGENITAL ABNORMALITIES. Other anomalies of bone, ear, lung, and nose are common. Mutations on FRAS1 and FREM2 are associated with the syndrome.
Alternative IDs:DO:DOID:0090001|OMIM:219000
ParentIDs:MESH:D000015|MESH:D005124|MESH:D013576|MESH:D014564
TreeNumbers:C05.116.099.370.894.819.428 |C05.660.585.800.428 |C05.660.906.819.428 |C11.250.390 |C12.706.410 |C13.351.875.397 |C16.131.077.371 |C16.131.384.442 |C16.131.621.585.800.428 |C16.131.621.906.819.428 |C16.131.939.410
Synonyms:Cryptophthalmos Syndactyly Syndrome |Cryptophthalmos-Syndactyly Syndrome |Cryptophthalmos-Syndactyly Syndromes |Cryptophthalmos with Other Malformations |FRASER SYNDROME |FRASER SYNDROME 1 |FRASRS1 |Syndrome, Fraser
Slim Mappings:Congenital abnormality|Eye disease|Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: D058497
MeSH: D058497
OMIM: 219000;
MSeqDR LSDB:  
Genes: FRAS1; FREM2; GRIP1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0002536Abnormal cortical gyration
3 HP:0001627Abnormal heart morphology
4 HP:0004378Abnormality of the anus
5 HP:0000377Abnormality of the pinna
6 HP:0002244Abnormality of the small intestine
7 HP:0000777Abnormality of the thymus
8 HP:0001551Abnormality of the umbilicus
9 HP:0002223Absent eyebrow
10 HP:0000561Absent eyelashes
11 HP:0000528Anophthalmia
12 HP:0009767Aplasia/Hypoplasia of the phalanges of the hand
13 HP:0006714Aplasia/Hypoplasia of the sternum
14 HP:0009601Aplasia/Hypoplasia of the thumb
15 HP:0000413Atresia of the external auditory canal
16 HP:0000813Bicornuate uterus
17 HP:0007633Bilateral microphthalmos
18 HP:0000618Blindness
19 HP:0001362Calvarial skull defect
20 HP:0000452Choanal stenosis
21 HP:0003191Cleft ala nasi
22 HP:0000175Cleft palate
23 HP:0000204Cleft upper lip
24 HP:0008665Clitoral hypertrophy
25 HP:0000405Conductive hearing impairment
26 HP:0007957Corneal opacity
27 HP:0001126Cryptophthalmos
28 HP:0000028Cryptorchidism
29 HP:0000378Cupped ear
30 HP:0010554Cutaneous finger syndactyly
31 HP:0000678Dental crowding
32 HP:0000689Dental malocclusion
33 HP:0005280Depressed nasal bridge
34 HP:0000183Difficulty in tongue movements
35 HP:0002084Encephalocele
36 HP:0005325Extension of hair growth on temples to lateral eyebrow
37 HP:0002006Facial cleft
38 HP:0000238Hydrocephalus
39 HP:0000316Hypertelorism
40 HP:0008559Hypoplastic superior helix
41 HP:0000047Hypospadias
42 HP:0001249Intellectual disability
43 HP:0007925Lacrimal duct aplasia
44 HP:0008750Laryngeal atresia
45 HP:0001602Laryngeal stenosis
46 HP:0005950Laryngeal web
47 HP:0000369Low-set ears
48 HP:0007993Malformed lacrimal ducts
49 HP:0000252Microcephaly
50 HP:0000054Micropenis
51 HP:0004112Midline nasal groove
52 HP:0008609Morphological abnormality of the middle ear
53 HP:0002475Myelomeningocele
54 HP:0002089Pulmonary hypoplasia
55 HP:0000089Renal hypoplasia
56 HP:0008678Renal hypoplasia/aplasia
57 HP:0005352Severe T-cell immunodeficiency
58 HP:0001607Subglottic stenosis
59 HP:0000430Underdeveloped nasal alae
60 HP:0000636Upper eyelid coloboma
61 HP:0000148Vaginal atresia
62 HP:0006610Wide intermamillary distance
63 HP:0000431Wide nasal bridge
64 HP:0000445Wide nose
65 HP:0003183Wide pubic symphysis
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_025074.7(FRAS1):c.-422C>G80144FRAS1Uncertain significancers886059622RCV000261189; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247897874278978742CGNC_000004.11:g.78978742C>GClinGen:CA10618270C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.-257G>T80144FRAS1Benignrs78363185RCV000318768; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247897890778978907GT4:g.78978907G>TClinGen:CA10619218C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.-245C>G80144FRAS1Uncertain significancers886059623RCV000385592; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247897891978978919CG4:g.78978919C>GClinGen:CA10618277C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.-233A>T80144FRAS1Uncertain significancers566584457RCV001156614; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247897893178978931AT4:g.78978931A>T-
NM_025074.7(FRAS1):c.-188C>T80144FRAS1Uncertain significancers886059624RCV000293567; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247897897678978976CTNC_000004.11:g.78978976C>TClinGen:CA10618278C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.-185G>T80144FRAS1Uncertain significancers559206528RCV000350769; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247897897978978979GTNC_000004.11:g.78978979G>TClinGen:CA10621693C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.-65T>C80144FRAS1Benignrs6832285RCV000388974; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247897909978979099TCNC_000004.11:g.78979099T>CClinGen:CA10619219C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.-23C>T80144FRAS1Benignrs34237418RCV000287519; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247897914178979141CTNC_000004.11:g.78979141C>TClinGen:CA2975755C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.-18G>T80144FRAS1Uncertain significancers750662462RCV000344884; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247897914678979146GTNC_000004.11:g.78979146G>TClinGen:CA2975757C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.47A>C (p.Glu16Ala)80144FRAS1Uncertain significancers554995505RCV001156615; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247897921078979210AC4:g.78979210A>C-
NM_025074.7(FRAS1):c.76+5G>A80144FRAS1Uncertain significancers886059625RCV000389965; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247897924478979244GANC_000004.11:g.78979244G>AClinGen:CA10618288C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.77-9T>C80144FRAS1Uncertain significancers1740016134RCV001151139; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247898713078987130TC4:g.78987130T>C-
NM_025074.7(FRAS1):c.95A>G (p.Asp32Gly)80144FRAS1Benignrs4859905RCV000251438|RCV000309845|RCV002058356; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247898715778987157AGNC_000004.11:g.78987157A>GClinGen:CA2975818C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.108+2546T>C80144FRAS1Benignrs10008489RCV000601466|RCV001702690; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN16937447898971678989716TCNC_000004.11:g.78989716T>CClinGen:CA2975833C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.118A>C (p.Ile40Leu)80144FRAS1Uncertain significancers751533644RCV001151140; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247915867379158673AC4:g.79158673A>C-
NM_025074.7(FRAS1):c.160G>C (p.Asp54His)80144FRAS1Benignrs17003071RCV000339420|RCV001702623|RCV002057952; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN169374|MedGen:CN51720247915871579158715GCNC_000004.11:g.79158715G>CClinGen:CA2975849C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.195C>T (p.Asn65=)80144FRAS1Uncertain significancers200429476RCV000407938; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247915875079158750CTNC_000004.11:g.79158750C>TClinGen:CA2975857C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.201A>G (p.Gln67=)80144FRAS1Benign/Likely benignrs117876433RCV000304412|RCV000864877; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247915875679158756AGNC_000004.11:g.79158756A>GClinGen:CA2975859C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.227T>G (p.Leu76Arg)80144FRAS1Uncertain significancers199745197RCV000361503; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247916639779166397TGNC_000004.11:g.79166397T>GClinGen:CA2975879C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.237T>C (p.Ala79=)80144FRAS1Conflicting interpretations of pathogenicityrs370345916RCV000178368|RCV000259756; NMedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247916640779166407TC4:g.79166407T>CClinGen:CA245447C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.285C>A (p.Cys95Ter)80144FRAS1Pathogenicrs1725182255RCV001172405; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247916645579166455CA4:g.79166455C>A-
NM_025074.7(FRAS1):c.308A>T (p.Glu103Val)80144FRAS1Benignrs78711748RCV000298543|RCV001573264|RCV001702624; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202|MedGen:CN16937447916647879166478ATNC_000004.11:g.79166478A>TClinGen:CA2975888C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.364del (p.Glu122fs)80144FRAS1Pathogenic-1RCV001536002; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247917359779173597TGT79173596-
NM_025074.7(FRAS1):c.370C>T (p.Arg124Ter)80144FRAS1Pathogenicrs377046630RCV000178998|RCV001172407; NMedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247917360679173606CT4:g.79173606C>TClinGen:CA203126C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.371G>A (p.Arg124Gln)80144FRAS1Uncertain significancers200764508RCV001154209; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247917360779173607GA4:g.79173607G>A-
NM_025074.7(FRAS1):c.380C>G (p.Pro127Arg)80144FRAS1Benignrs147709711RCV000355670|RCV001702009|RCV002057953; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN169374|MedGen:CN51720247917361679173616CGNC_000004.11:g.79173616C>GClinGen:CA2975924C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.384A>G (p.Gln128=)80144FRAS1Uncertain significancers566690413RCV001154210; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247917362079173620AG4:g.79173620A>G-
NM_025074.7(FRAS1):c.395C>T (p.Pro132Leu)80144FRAS1Uncertain significancers376122558RCV000263222|RCV001753822; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247917363179173631CTNC_000004.11:g.79173631C>TClinGen:CA2975933C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.446G>A (p.Cys149Tyr)80144FRAS1Uncertain significancers769003850RCV001154211; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247917368279173682GA4:g.79173682G>A-
NM_025074.7(FRAS1):c.470-35T>C80144FRAS1Benign-1RCV001702332; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247917636179176361TC79176361-
NM_025074.7(FRAS1):c.470-4C>G80144FRAS1Benignrs59429199RCV000330254|RCV000864282; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247917639279176392CGNC_000004.11:g.79176392C>GClinGen:CA2975971C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.516G>A (p.Trp172Ter)80144FRAS1Pathogenicrs1432850828RCV000790410; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247917644279176442GA4:g.79176442G>A-
NM_025074.7(FRAS1):c.518G>A (p.Arg173Gln)80144FRAS1Benignrs147332320RCV000387133|RCV001573211|RCV001702625; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202|MedGen:CN16937447917644479176444GANC_000004.11:g.79176444G>AClinGen:CA2975977C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.524G>A (p.Ser175Asn)80144FRAS1Uncertain significancers772288910RCV000276392|RCV001861240; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247917645079176450GANC_000004.11:g.79176450G>AClinGen:CA2975979C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.527G>A (p.Arg176Gln)80144FRAS1Conflicting interpretations of pathogenicityrs183328334RCV001155052|RCV001573104; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247917645379176453GA4:g.79176453G>A-
NM_025074.7(FRAS1):c.547A>T (p.Arg183Ter)80144FRAS1Pathogenic-1RCV001376125; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247917647379176473AT79176473-
NM_025074.7(FRAS1):c.570_573dup (p.Ala192fs)80144FRAS1Pathogenicrs1725743022RCV001172411; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247917649579176496TTCACA4:g.79176495_79176496insCACA-
NM_025074.7(FRAS1):c.585G>T (p.Gln195His)80144FRAS1Uncertain significancers930940115RCV001155053; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247917651179176511GT4:g.79176511G>T-
NM_025074.7(FRAS1):c.604-132G>A80144FRAS1Benignrs6856362RCV000606403|RCV001703214; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN16937447918604779186047GA4:g.79186047G>AClinGen:CA2976006C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.604-11T>A80144FRAS1Uncertain significancers886059626RCV000333777; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247918616879186168TANC_000004.11:g.79186168T>AClinGen:CA10618294C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.604-8G>A80144FRAS1Benignrs2867014RCV000252006|RCV000381460|RCV002058348; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247918617179186171GANC_000004.11:g.79186171G>AClinGen:CA2976022C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.619C>T (p.Arg207Ter)80144FRAS1Pathogenicrs748696533RCV001172414; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247918619479186194CT4:g.79186194C>T-
NM_025074.7(FRAS1):c.625C>T (p.Pro209Ser)80144FRAS1Benignrs7699637RCV000289381|RCV000864283; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247918620079186200CTNC_000004.11:g.79186200C>TClinGen:CA2976028C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.641C>T (p.Pro214Leu)80144FRAS1Conflicting interpretations of pathogenicityrs200053639RCV000346722|RCV000598265; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247918621679186216CTNC_000004.11:g.79186216C>TClinGen:CA2976030C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.667G>A (p.Ala223Thr)80144FRAS1Conflicting interpretations of pathogenicityrs200123398RCV000384983|RCV000875699; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247918624279186242GANC_000004.11:g.79186242G>AClinGen:CA2976033C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.682T>C (p.Tyr228His)80144FRAS1Benignrs7682296RCV000281855|RCV000864284; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247918625779186257TCNC_000004.11:g.79186257T>CClinGen:CA2976037C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.688-13T>C80144FRAS1Benignrs144657066RCV000336829|RCV002057954; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247918797579187975TCNC_000004.11:g.79187975T>CClinGen:CA2976051C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.688-5T>G80144FRAS1Pathogenicrs775548230RCV001172413; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247918798379187983TG4:g.79187983T>G-
NM_025074.7(FRAS1):c.706G>A (p.Glu236Lys)80144FRAS1Uncertain significancers373994193RCV000400860|RCV001850855; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247918800679188006GANC_000004.11:g.79188006G>AClinGen:CA2976056C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.727A>G (p.Ile243Val)80144FRAS1Benignrs6848030RCV000297027|RCV000864601; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247918802779188027AGNC_000004.11:g.79188027A>GClinGen:CA2976060C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.763G>A (p.Ala255Thr)80144FRAS1Uncertain significancers886059627RCV000342487; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247918806379188063GANC_000004.11:g.79188063G>AClinGen:CA10621701C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.776T>G (p.Leu259Arg)80144FRAS1Benign/Likely benignrs148509395RCV000180373|RCV000514095|RCV001156714|RCV001258255; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MONDO:MONDO:0011558,MedGen:C2931213,OMIM:605472, Orphanet:231178, Orphanet:88647918807679188076TG4:g.79188076T>GClinGen:CA203673CN517202 not provided;
NM_025074.7(FRAS1):c.784G>A (p.Gly262Arg)80144FRAS1Uncertain significancers576372683RCV001330028; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247918808479188084GA79188084-
NM_025074.7(FRAS1):c.789+12T>G80144FRAS1Benignrs142206350RCV001151263|RCV002070831; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247918810179188101TG4:g.79188101T>G-
NM_025074.7(FRAS1):c.809G>A (p.Arg270His)80144FRAS1Uncertain significancers374688692RCV001151264; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247918841479188414GA4:g.79188414G>A-
NM_025074.7(FRAS1):c.826G>A (p.Glu276Lys)80144FRAS1Uncertain significancers886059628RCV000402290; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247918843179188431GANC_000004.11:g.79188431G>AClinGen:CA10619240C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.856T>A (p.Ser286Thr)80144FRAS1Uncertain significancers189205642RCV001151265|RCV002032395; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247918846179188461TA4:g.79188461T>A-
NM_025074.7(FRAS1):c.885C>T (p.Asp295=)80144FRAS1Uncertain significancers562224966RCV001151266; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247918849079188490CT4:g.79188490C>T-
NM_025074.7(FRAS1):c.886G>A (p.Glu296Lys)80144FRAS1Uncertain significancers186811333RCV000302837|RCV001850856; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247918849179188491GANC_000004.11:g.79188491G>AClinGen:CA2976109C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.903G>A (p.Ser301=)80144FRAS1Uncertain significancers373613705RCV001151267; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247918850879188508GA4:g.79188508G>A-
NM_025074.7(FRAS1):c.969G>A (p.Val323=)80144FRAS1Conflicting interpretations of pathogenicityrs377333036RCV000311638|RCV000357606; NMedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247918857479188574GA4:g.79188574G>AClinGen:CA2976122C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.979C>T (p.Arg327Trp)80144FRAS1Benignrs61999335RCV000272027|RCV001701864|RCV001572888; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN169374|MedGen:CN51720247918858479188584CTNC_000004.11:g.79188584C>TClinGen:CA2976124C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.981+9C>T80144FRAS1Benignrs112081709RCV000308483|RCV002057955; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247918859579188595CTNC_000004.11:g.79188595C>TClinGen:CA2976127C0265233 219000 Cryptophthalmos syndrome;
NC_000004.12:g.78268671_78298757del80144FRAS1Pathogenic-1RCV001172409; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247918982579219911nana-1-
NM_025074.7(FRAS1):c.1072-5C>T80144FRAS1Benignrs570183677RCV001154325|RCV002070885; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247920254779202547CT4:g.79202547C>T-
NM_025074.7(FRAS1):c.1087A>G (p.Ser363Gly)80144FRAS1Uncertain significancers1404338156RCV001154326; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247920256779202567AG4:g.79202567A>G-
NM_025074.7(FRAS1):c.1121G>A (p.Trp374Ter)80144FRAS1Pathogenicrs1727394990RCV001172419; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247920398779203987GA4:g.79203987G>A-
NM_025074.7(FRAS1):c.1153C>T (p.Arg385Ter)80144FRAS1Pathogenicrs775259788RCV001172416; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247920401979204019CT4:g.79204019C>T-
NM_025074.7(FRAS1):c.1186T>C (p.Cys396Arg)80144FRAS1Uncertain significancers138103912RCV001154327; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247920405279204052TC4:g.79204052T>C-
NM_025074.7(FRAS1):c.1226dup (p.Gln411fs)80144FRAS1Likely pathogenicrs1727403682RCV001283840; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247920409079204091GGA79204090-
NM_025074.7(FRAS1):c.1250C>T (p.Thr417Ile)80144FRAS1Uncertain significancers1727405834RCV001154328; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247920411679204116CT4:g.79204116C>T-
NM_025074.7(FRAS1):c.1255+10T>C80144FRAS1Benign/Likely benignrs540508144RCV000899770|RCV001154329; NMedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247920413179204131TC4:g.79204131T>C-
NM_025074.7(FRAS1):c.1256-12C>T80144FRAS1Uncertain significancers370606261RCV000363207; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247920554779205547CTNC_000004.11:g.79205547C>TClinGen:CA2976241C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.1270G>C (p.Asp424His)80144FRAS1Uncertain significancers775737013RCV001155161; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247920557379205573GC4:g.79205573G>C-
NM_025074.7(FRAS1):c.1286C>A (p.Ser429Tyr)80144FRAS1Benignrs6838959RCV000277768|RCV000864602; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247920558979205589CA4:g.79205589C>AClinGen:CA2976248C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.1371T>C (p.Gly457=)80144FRAS1Uncertain significancers746772122RCV001155162; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247920567479205674TC4:g.79205674T>C-
NM_025074.7(FRAS1):c.1396T>A (p.Leu466Ile)80144FRAS1Benignrs12504081RCV000243148|RCV000333069|RCV001660349; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247920569979205699TANC_000004.11:g.79205699T>AClinGen:CA2976263C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.1399+1G>A80144FRAS1Pathogenicrs1727490024RCV001172421; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247920570379205703GA4:g.79205703G>A-
NM_025074.7(FRAS1):c.1416C>T (p.Cys472=)80144FRAS1Benignrs35690113RCV000369014|RCV000865158; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247920757579207575CT4:g.79207575C>TClinGen:CA2976303C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.1486G>T (p.Val496Leu)80144FRAS1Uncertain significancers201490843RCV000274361; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247920764579207645GT4:g.79207645G>TClinGen:CA2976313C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.1528T>C (p.Cys510Arg)80144FRAS1Uncertain significancers141063284RCV001155163; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247920768779207687TC4:g.79207687T>C-
NM_025074.7(FRAS1):c.1598A>T (p.Asp533Val)80144FRAS1Uncertain significancers886059629RCV000320115; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247922928379229283AT4:g.79229283A>TClinGen:CA10621704C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.1609G>A (p.Val537Met)80144FRAS1Uncertain significancers367598897RCV000374408|RCV001861241; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247922929479229294GA4:g.79229294G>AClinGen:CA2976362C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.1617A>G (p.Arg539=)80144FRAS1Benignrs345528RCV000279819|RCV002061247; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247922930279229302AG4:g.79229302A>GClinGen:CA2976366C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.1635C>T (p.Ser545=)80144FRAS1Benign/Likely benignrs528765554RCV000316325|RCV000591566|RCV000873307; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN169374|MedGen:CN51720247922932079229320CT4:g.79229320C>TClinGen:CA2976378C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.1650C>A (p.Gly550=)80144FRAS1Uncertain significancers1728870513RCV001156814; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247922933579229335CA4:g.79229335C>A-
NM_025074.7(FRAS1):c.1710C>T (p.Pro570=)80144FRAS1Benignrs17003124RCV000380193|RCV000873267|RCV001821069; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202|MedGen:CN16937447923677979236779CT4:g.79236779C>TClinGen:CA2976413C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.1722G>T (p.Arg574Ser)80144FRAS1Uncertain significancers886059630RCV000285883; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247923679179236791GT4:g.79236791G>TClinGen:CA10621724C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.1766G>A (p.Cys589Tyr)80144FRAS1Uncertain significancers1729214191RCV001172422; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247923683579236835GA4:g.79236835G>A-
NM_025074.7(FRAS1):c.1769T>C (p.Met590Thr)80144FRAS1Benign/Likely benignrs35030041RCV000224361|RCV000340861; NMedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247923683879236838TC4:g.79236838T>CClinGen:CA2976422C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.1783G>A (p.Gly595Ser)80144FRAS1Conflicting interpretations of pathogenicityrs149843493RCV000398678|RCV001355917; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247923685279236852GA4:g.79236852G>AClinGen:CA2976424C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.1796C>T (p.Ala599Val)80144FRAS1Uncertain significancers368186922RCV001151395; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247923686579236865CT4:g.79236865C>T-
NM_025074.7(FRAS1):c.1810A>G (p.Arg604Gly)80144FRAS1Uncertain significancers1729217009RCV001330025; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247923687979236879AG79236879-
NM_025074.7(FRAS1):c.1820-11C>T80144FRAS1Uncertain significancers117925872RCV000346162; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247923851179238511CT4:g.79238511C>TClinGen:CA2976457C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.1820-11C>G80144FRAS1Benign/Likely benignrs117925872RCV000291844|RCV002057956; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247923851179238511CG4:g.79238511C>GClinGen:CA2976456C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.1848T>C (p.Ser616=)80144FRAS1Uncertain significancers878902352RCV000399519; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247923855079238550TC4:g.79238550T>CClinGen:CA10619244C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.1885C>G (p.Pro629Ala)80144FRAS1Uncertain significancers765144262RCV000306376; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247923858779238587CG4:g.79238587C>GClinGen:CA2976471C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.1905C>T (p.Gly635=)80144FRAS1Uncertain significancers1406270521RCV001151396; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247923860779238607CT4:g.79238607C>T-
NM_025074.7(FRAS1):c.1914G>A (p.Leu638=)80144FRAS1Uncertain significancers778155926RCV000370427; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247923861679238616GA4:g.79238616G>AClinGen:CA2976483C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.1918C>T (p.Arg640Cys)80144FRAS1Conflicting interpretations of pathogenicityrs147869493RCV001151397|RCV001171737; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247923862079238620CT4:g.79238620C>T-
NM_025074.7(FRAS1):c.1947T>C (p.His649=)80144FRAS1Benignrs345514RCV000175235|RCV000407507|RCV001610486; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247923864979238649TC4:g.79238649T>CClinGen:CA201354C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.2010T>A (p.Cys670Ter)80144FRAS1Pathogenicrs1338479649RCV001172424; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247924001379240013TA4:g.79240013T>A-
NM_025074.7(FRAS1):c.2027C>T (p.Pro676Leu)80144FRAS1Uncertain significancers202043019RCV000494487|RCV001154421; NMedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247924003079240030CT4:g.79240030C>TClinGen:CA2976533CN169374 not specified;
NM_025074.7(FRAS1):c.2060A>G (p.Asp687Gly)80144FRAS1Benignrs345513RCV000252679|RCV000312084|RCV001683115; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247924006379240063AGNC_000004.11:g.79240063A>GClinGen:CA2976538C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.2128A>C (p.Ile710Leu)80144FRAS1Benignrs345512RCV000366872|RCV002057957; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247924013179240131ACNC_000004.11:g.79240131A>CClinGen:CA2976553C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.2132G>A (p.Cys711Tyr)80144FRAS1Uncertain significancers201740573RCV000262864; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247924013579240135GANC_000004.11:g.79240135G>AClinGen:CA2976555C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.2137G>C (p.Ala713Pro)80144FRAS1Uncertain significancers369605412RCV000318364; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247924014079240140GCNC_000004.11:g.79240140G>CClinGen:CA2976556C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.2313G>T (p.Pro771=)80144FRAS1Benignrs396790RCV000354533|RCV002057958; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247925886279258862GTNC_000004.11:g.79258862G>TClinGen:CA2976611C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.2328C>T (p.Cys776=)80144FRAS1Uncertain significancers776037240RCV000259530; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247925887779258877CTNC_000004.11:g.79258877C>TClinGen:CA2976614C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.2345A>T (p.His782Leu)80144FRAS1Uncertain significancers200056545RCV001155257; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247925889479258894AT4:g.79258894A>T-
NM_025074.7(FRAS1):c.2357_2360del (p.Thr786fs)80144FRAS1Pathogenic-1RCV001783309; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247925890579258908TACCAT79258904-
NM_025074.7(FRAS1):c.2375C>A (p.Thr792Asn)80144FRAS1Uncertain significancers1037965937RCV001155258; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247925892479258924CA4:g.79258924C>A-
NM_025074.7(FRAS1):c.2433C>T (p.His811=)80144FRAS1Conflicting interpretations of pathogenicityrs756276943RCV000324069|RCV002061248; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247928467779284677CTNC_000004.11:g.79284677C>TClinGen:CA2976654C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.2450C>T (p.Ala817Val)80144FRAS1Benign/Likely benignrs6835769RCV000242783|RCV000378902|RCV002058347; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247928469479284694CTNC_000004.11:g.79284694C>TClinGen:CA2976656C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.2570G>T (p.Cys857Phe)80144FRAS1Pathogenic-1RCV001376124; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247928481479284814GT79284814-
NM_025074.7(FRAS1):c.2575+15G>A80144FRAS1Benignrs79624813RCV000284463|RCV002057959; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247928483479284834GANC_000004.11:g.79284834G>AClinGen:CA2976674C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.2598C>T (p.Thr866=)80144FRAS1Conflicting interpretations of pathogenicityrs149802708RCV000320715|RCV000877523; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247928508479285084CTNC_000004.11:g.79285084C>TClinGen:CA2976692C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.2647G>A (p.Val883Met)80144FRAS1Conflicting interpretations of pathogenicityrs377068014RCV000871923|RCV001155259; NMedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247928513379285133GA4:g.79285133G>A-
NM_025074.7(FRAS1):c.2660C>G (p.Thr887Ser)80144FRAS1Benignrs74510691RCV000384636|RCV000870651; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247928514679285146CGNC_000004.11:g.79285146C>GClinGen:CA2976709C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.2692del (p.His898fs)80144FRAS1Pathogenic-1RCV001783311; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247928517879285178GCG79285177-
NM_025074.7(FRAS1):c.2719C>T (p.Gln907Ter)80144FRAS1Pathogenic/Likely pathogenicrs755750961RCV000500822|RCV000760330; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247928520579285205CTNC_000004.11:g.79285205C>TClinGen:CA2976718C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.2722+1G>A80144FRAS1Pathogenicrs794727365RCV000224135|RCV001172426; NMedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247928520979285209GA4:g.79285209G>AClinGen:CA201906C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.2811T>A (p.Cys937Ter)80144FRAS1Likely pathogenic-1RCV001781130; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247929108079291080TA79291080-
NM_025074.7(FRAS1):c.2818G>C (p.Glu940Gln)80144FRAS1Uncertain significancers573458782RCV000289239; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247929108779291087GCNC_000004.11:g.79291087G>CClinGen:CA2976743C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.2835G>A (p.Gln945=)80144FRAS1Conflicting interpretations of pathogenicityrs137923783RCV000902046|RCV001156924; NMedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247929110479291104GA4:g.79291104G>A-
NM_025074.7(FRAS1):c.2846A>T (p.Asp949Val)80144FRAS1Uncertain significancers202221840RCV001156925|RCV001859021; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247929111579291115AT4:g.79291115A>T-
NM_025074.7(FRAS1):c.2861C>T (p.Thr954Met)80144FRAS1Conflicting interpretations of pathogenicityrs17003166RCV000732334|RCV000871682|RCV001156926; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247929113079291130CTNC_000004.11:g.79291130C>T-
NM_025074.7(FRAS1):c.2869+1G>A80144FRAS1Likely pathogenicrs1731436153RCV001330026; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247929113979291139GA79291139-
NM_025074.7(FRAS1):c.2870-5T>C80144FRAS1Uncertain significancers768834170RCV001156927; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247929386779293867TC4:g.79293867T>C-
NM_025074.7(FRAS1):c.2894G>T (p.Cys965Phe)80144FRAS1Likely pathogenicrs1325190118RCV000782359; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247929389679293896GT4:g.79293896G>T-
NM_025074.7(FRAS1):c.2934T>G (p.Asp978Glu)80144FRAS1Uncertain significancers1466526912RCV001156928; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247929393679293936TG4:g.79293936T>G-
NM_025074.7(FRAS1):c.2935G>T (p.Gly979Cys)80144FRAS1Uncertain significancers538621809RCV001156929; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247929393779293937GT4:g.79293937G>T-
NM_025074.7(FRAS1):c.2939A>G (p.Tyr980Cys)80144FRAS1Uncertain significancers570962669RCV001156930; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247929394179293941AG4:g.79293941A>G-
NM_025074.7(FRAS1):c.2956G>A (p.Ala986Thr)80144FRAS1Conflicting interpretations of pathogenicityrs111554790RCV000514473|RCV001151503; NMedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247929395879293958GA4:g.79293958G>AClinGen:CA2976778CN517202 not provided;
NM_025074.7(FRAS1):c.3010+9G>A80144FRAS1Conflicting interpretations of pathogenicityrs148841455RCV000344196|RCV000396312; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247929402179294021GA4:g.79294021G>AClinGen:CA2976790C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.3048T>C (p.His1016=)80144FRAS1Uncertain significancers886059631RCV000394947; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247929530279295302TCNC_000004.11:g.79295302T>CClinGen:CA10618312C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.3058C>T (p.Arg1020Cys)80144FRAS1Uncertain significancers200292361RCV000295202|RCV000397108; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247929531279295312CT4:g.79295312C>TClinGen:CA2976813C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.3065A>C (p.Lys1022Thr)80144FRAS1Likely benignrs201252328RCV000876608|RCV001151504; NMedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247929531979295319AC4:g.79295319A>C-
NM_025074.7(FRAS1):c.3068G>A (p.Gly1023Glu)80144FRAS1Benignrs17459809RCV000350153|RCV002057960|RCV001702010; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202|MedGen:CN16937447929532279295322GANC_000004.11:g.79295322G>AClinGen:CA2976818C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.3124G>A (p.Ala1042Thr)80144FRAS1Benignrs114077522RCV000398347|RCV001702626|RCV002057961; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN169374|MedGen:CN51720247929537879295378GANC_000004.11:g.79295378G>AClinGen:CA2976831C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.3128A>G (p.Asp1043Gly)80144FRAS1Uncertain significancers886059632RCV000300692; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247929538279295382AGNC_000004.11:g.79295382A>GClinGen:CA10618313C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.3151+14_3151+15dup80144FRAS1Benignrs398092530RCV000246753|RCV000355496|RCV001529401; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247929541879295419CCTGNC_000004.11:g.79295419_79295420dupClinGen:CA2976837C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.3152-10T>C80144FRAS1Uncertain significancers776449329RCV000398648; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247929688379296883TCNC_000004.11:g.79296883T>CClinGen:CA2976856C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.3157C>A (p.Pro1053Thr)80144FRAS1Uncertain significancers139162588RCV001154519; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247929689879296898CA4:g.79296898C>A-
NM_025074.7(FRAS1):c.3286T>C (p.Cys1096Arg)80144FRAS1Uncertain significancers765732994RCV000297107; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247929702779297027TCNC_000004.11:g.79297027T>CClinGen:CA2976886C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.3293-2A>T80144FRAS1Pathogenic-1RCV001806447; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247930087879300878AT79300878-
NM_025074.7(FRAS1):c.3312T>C (p.Ser1104=)80144FRAS1Benignrs35774552RCV000176765|RCV000361100|RCV002056954; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247930089979300899TC4:g.79300899T>CClinGen:CA202103C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.3406G>A (p.Glu1136Lys)80144FRAS1Benignrs12512164RCV000176766|RCV000266510|RCV002054081; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247930099379300993GA4:g.79300993G>AClinGen:CA202105C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.3529A>C (p.Lys1177Gln)80144FRAS1Uncertain significancers769982793RCV001154520; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247930111679301116AC4:g.79301116A>C-
NM_025074.7(FRAS1):c.3567A>G (p.Lys1189=)80144FRAS1Uncertain significancers778818485RCV001154521; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247930521679305216AG4:g.79305216A>G-
NM_025074.7(FRAS1):c.3631C>T (p.Gln1211Ter)80144FRAS1Likely pathogenic-1RCV001807682; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247930528079305280CT79305280-
NM_025074.7(FRAS1):c.3648+12G>A80144FRAS1Uncertain significancers764016097RCV001154522; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247930530979305309GA4:g.79305309G>A-
NM_025074.7(FRAS1):c.3649-9A>C80144FRAS1Conflicting interpretations of pathogenicityrs763538373RCV000897188|RCV001155343; NMedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247930852079308520AC4:g.79308520A>C-
NM_025074.7(FRAS1):c.3730C>T (p.Arg1244Ter)80144FRAS1Pathogenicrs186964660RCV001172412; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247930861079308610CT4:g.79308610C>T-
NM_025074.7(FRAS1):c.3799C>T (p.Gln1267Ter)80144FRAS1Pathogenicrs120074158RCV000002946; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247930867979308679CT4:g.79308679C>TClinGen:CA115773,OMIM:607830.0004C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.3824C>G (p.Pro1275Arg)80144FRAS1Uncertain significancers1732266097RCV001155344; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247930870479308704CG4:g.79308704C>G-
NM_025074.7(FRAS1):c.3873T>C (p.Tyr1291=)80144FRAS1Uncertain significancers1732268531RCV001155345; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247930875379308753TC4:g.79308753T>C-
NM_025074.7(FRAS1):c.3951G>A (p.Leu1317=)80144FRAS1Benignrs76107832RCV000302768|RCV000870806; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247930883179308831GANC_000004.11:g.79308831G>AClinGen:CA2977049C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.3986G>A (p.Gly1329Asp)80144FRAS1Uncertain significancers375515578RCV001155346; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247932189879321898GA4:g.79321898G>A-
NM_025074.7(FRAS1):c.4009A>G (p.Met1337Val)80144FRAS1Uncertain significancers765572525RCV000357532; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247932192179321921AGNC_000004.11:g.79321921A>GClinGen:CA2977076C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.4019T>C (p.Val1340Ala)80144FRAS1Uncertain significancers1578299894RCV001155347; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247932193179321931TC4:g.79321931T>C-
NM_025074.7(FRAS1):c.4032dup (p.Met1345fs)80144FRAS1Pathogenicrs1732856311RCV001172429; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247932193879321939AAG4:g.79321938_79321939insG-
NM_025074.7(FRAS1):c.4095C>T (p.Ile1365=)80144FRAS1Conflicting interpretations of pathogenicityrs79869130RCV000502497|RCV000871789|RCV001155348; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247932200779322007CTNC_000004.11:g.79322007C>TClinGen:CA2977089CN169374 not specified;
NM_025074.7(FRAS1):c.4111C>T (p.Gln1371Ter)80144FRAS1Pathogenicrs1732862637RCV001172408; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247932202379322023CT4:g.79322023C>T-
NM_025074.7(FRAS1):c.4143T>C (p.Leu1381=)80144FRAS1Benignrs113301188RCV000870937|RCV001157030; NMedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247932883079328830TC4:g.79328830T>C-
NM_025074.7(FRAS1):c.4159G>T (p.Ala1387Ser)80144FRAS1Uncertain significancers200689785RCV001157031; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247932884679328846GT4:g.79328846G>T-
NM_025074.7(FRAS1):c.4160C>T (p.Ala1387Val)80144FRAS1Conflicting interpretations of pathogenicityrs201864889RCV000272259|RCV000958083; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247932884779328847CTNC_000004.11:g.79328847C>TClinGen:CA2977121C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.4181G>C (p.Gly1394Ala)80144FRAS1Uncertain significancers376487875RCV000327375|RCV001770277; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247932886879328868GCNC_000004.11:g.79328868G>CClinGen:CA2977123C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.4183C>T (p.Gln1395Ter)80144FRAS1Pathogenicrs1733155852RCV001172430; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247932887079328870CT4:g.79328870C>T-
NM_025074.7(FRAS1):c.4255G>A (p.Val1419Ile)80144FRAS1Uncertain significancers570825961RCV001157032; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247932894279328942GA4:g.79328942G>A-
NM_025074.7(FRAS1):c.4259G>A (p.Trp1420Ter)80144FRAS1Pathogenic-1RCV001645007; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247932894679328946GA79328946-
NM_025074.7(FRAS1):c.4271C>G (p.Ser1424Ter)80144FRAS1Pathogenicrs120074159RCV000002947; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247932895879328958CG4:g.79328958C>GClinGen:CA115775,OMIM:607830.0005C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.4346G>T (p.Ser1449Ile)80144FRAS1Conflicting interpretations of pathogenicityrs201131604RCV000877954|RCV001157033; NMedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247933416079334160GT4:g.79334160G>T-
NM_025074.7(FRAS1):c.4364C>T (p.Ala1455Val)80144FRAS1Uncertain significancers201693179RCV000382855|RCV000735054; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247933417879334178CTNC_000004.11:g.79334178C>TClinGen:CA2977173C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.4367T>C (p.Ile1456Thr)80144FRAS1Uncertain significancers560902495RCV001157034; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247933418179334181TC4:g.79334181T>C-
NM_025074.7(FRAS1):c.4465del (p.Leu1489fs)80144FRAS1Pathogenicrs1257736144RCV001293651; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247934014079340140TCT79340139-
NM_025074.7(FRAS1):c.4555C>T (p.Arg1519Trp)80144FRAS1Uncertain significancers761970312RCV000269617; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247934303179343031CTNC_000004.11:g.79343031C>TClinGen:CA2977245C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.4557G>A (p.Arg1519=)80144FRAS1Conflicting interpretations of pathogenicityrs773736914RCV000333996|RCV000930389; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247934303379343033GANC_000004.11:g.79343033G>AClinGen:CA2977247C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.4578C>G (p.Ile1526Met)80144FRAS1Uncertain significancers757959583RCV001254010; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247934305479343054CG4:g.79343054C>G-
NM_025074.7(FRAS1):c.4579C>T (p.Arg1527Trp)80144FRAS1Conflicting interpretations of pathogenicityrs1872267RCV000388525|RCV000658999|RCV001818432; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202|MedGen:CN16937447934305579343055CT4:g.79343055C>TClinGen:CA244749C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.4580G>A (p.Arg1527Gln)80144FRAS1Uncertain significancers566595838RCV001254011|RCV001879878; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247934305679343056GA4:g.79343056G>A-
NM_025074.7(FRAS1):c.4634C>T (p.Pro1545Leu)80144FRAS1Uncertain significancers201675499RCV000294415|RCV001786378; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247934311079343110CTNC_000004.11:g.79343110C>TClinGen:CA2977263C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.4635G>A (p.Pro1545=)80144FRAS1Benignrs78575519RCV000243307|RCV000349386|RCV001711733; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247934311179343111GANC_000004.11:g.79343111G>AClinGen:CA2977264C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.4648C>T (p.Leu1550Phe)80144FRAS1Conflicting interpretations of pathogenicityrs148663672RCV000375909|RCV000488060|RCV001824752; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202|MedGen:CN16937447934312479343124CTNC_000004.11:g.79343124C>TClinGen:CA2977267C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.4678+5T>C80144FRAS1Uncertain significancers76993002RCV000281504; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247934315979343159TCNC_000004.11:g.79343159T>CClinGen:CA2977271C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.4679-9C>T80144FRAS1Conflicting interpretations of pathogenicityrs541669781RCV001154630|RCV001253867; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247934553379345533CT4:g.79345533C>T-
NM_025074.7(FRAS1):c.4682T>C (p.Leu1561Pro)80144FRAS1Uncertain significancers376814395RCV000336087; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247934554579345545TCNC_000004.11:g.79345545T>CClinGen:CA2977292C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.4737G>A (p.Pro1579=)80144FRAS1Uncertain significancers373137263RCV000401213; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247935027479350274GANC_000004.11:g.79350274G>AClinGen:CA2977319C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.4808G>A (p.Arg1603Gln)80144FRAS1Uncertain significancers772059263RCV001154631; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247935034579350345GA4:g.79350345G>A-
NM_025074.7(FRAS1):c.4815G>A (p.Ala1605=)80144FRAS1Benign/Likely benignrs201188262RCV000305718|RCV000871712; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247935035279350352GANC_000004.11:g.79350352G>AClinGen:CA2977335C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.4843+2T>C80144FRAS1Uncertain significancers370018000RCV001328202|RCV001780227|RCV001732106; NMONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805, Orphanet:93545|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247935038279350382TC79350382-
NM_025074.7(FRAS1):c.4874C>T (p.Thr1625Ile)80144FRAS1Uncertain significancers770386832RCV001154632; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247935147679351476CT4:g.79351476C>T-
NM_025074.7(FRAS1):c.4940C>T (p.Thr1647Ile)80144FRAS1Benignrs34271211RCV000341961|RCV000864826|RCV001729557; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202|MedGen:CN16937447935154279351542CTNC_000004.11:g.79351542C>TClinGen:CA2977368C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.4959G>A (p.Pro1653=)80144FRAS1Benign/Likely benignrs372154997RCV000402329|RCV000879378; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247935156179351561GA4:g.79351561G>AClinGen:CA2977371C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.5034T>C (p.Ser1678=)80144FRAS1Uncertain significancers1329723132RCV001155470; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247935357579353575TC4:g.79353575T>C-
NM_025074.7(FRAS1):c.5039G>A (p.Arg1680Gln)80144FRAS1Uncertain significancers201110914RCV000302495; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247935358079353580GA4:g.79353580G>AClinGen:CA2977410C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.5046C>G (p.Asp1682Glu)80144FRAS1Conflicting interpretations of pathogenicityrs35219594RCV000177952|RCV000366484|RCV000870983; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247935358779353587CG4:g.79353587C>GClinGen:CA202671C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.5056A>C (p.Ile1686Leu)80144FRAS1Uncertain significancers748832101RCV001155471; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247935359779353597AC4:g.79353597A>C-
NM_025074.7(FRAS1):c.5125C>T (p.Arg1709Ter)80144FRAS1Pathogenic/Likely pathogenicrs775517752RCV000593264|RCV001330027; NMedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247935366679353666CT4:g.79353666C>TClinGen:CA2977423C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.5134C>T (p.Arg1712Ter)80144FRAS1Pathogenicrs535527511RCV001172415; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247935367579353675CT4:g.79353675C>T-
NM_025074.7(FRAS1):c.5166del (p.Val1723fs)80144FRAS1Pathogenic-1RCV001837046; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247935370779353707CTC79353706-
NM_025074.7(FRAS1):c.5169_5175del (p.Ala1724fs)80144FRAS1Pathogenicrs1734259370RCV001172423; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247935370879353714TGTTGCCAT4:g.79353708_79353714del-
NM_025074.7(FRAS1):c.5208T>C (p.Leu1736=)80144FRAS1Benignrs35608396RCV000271918|RCV000870846; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247935374979353749TC4:g.79353749T>CClinGen:CA2977444C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.5218-9C>T80144FRAS1Uncertain significancers369761349RCV000306455; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247935971579359715CT4:g.79359715C>TClinGen:CA2977466C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.5366+13T>G80144FRAS1Benignrs2170899RCV000178008|RCV000370507|RCV002054104; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247935988579359885TG4:g.79359885T>GClinGen:CA202688C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.5370C>G (p.Tyr1790Ter)80144FRAS1Likely pathogenicrs757311669RCV000761280; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247936005979360059CGNC_000004.11:g.79360059C>G-
NM_025074.7(FRAS1):c.5374G>A (p.Ala1792Thr)80144FRAS1Conflicting interpretations of pathogenicityrs150916370RCV000872516|RCV001157148; NMedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247936006379360063GA4:g.79360063G>A-
NM_025074.7(FRAS1):c.5419_5424del (p.Phe1807_Ser1808del)80144FRAS1Uncertain significancers730882178RCV000002948; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247936010779360112ATTTCTCA4:g.79360107_79360112delClinGen:CA212802,OMIM:607830.0006C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.5474T>G (p.Met1825Arg)80144FRAS1Uncertain significancers200477457RCV001157149|RCV001572842; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247936016379360163TG4:g.79360163T>G-
NM_025074.7(FRAS1):c.5516C>T (p.Ala1839Val)80144FRAS1Uncertain significancers769089211RCV000275946; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247936020579360205CT4:g.79360205C>TClinGen:CA2977525C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.5574dup (p.Ala1859fs)80144FRAS1Pathogenicrs753831692RCV001172427; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247936235379362354AAT4:g.79362353_79362354insT-
NM_025074.7(FRAS1):c.5664_5665+19delinsT80144FRAS1Pathogenicrs886037766RCV000257997; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247936245079362470AGGTACTACTTCCTGTAAAACTNC_000004.11:g.79362450_79362470delinsTClinGen:CA10575841C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.5670T>C (p.Asp1890=)80144FRAS1Uncertain significancers1718788319RCV001157150; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247936668079366680TC4:g.79366680T>C-
NM_025074.7(FRAS1):c.5716del (p.Ile1906fs)80144FRAS1Pathogenicrs1718790934RCV001172432; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247936672679366726TAT4:g.79366726_79366726del-
NM_025074.7(FRAS1):c.5756G>A (p.Ser1919Asn)80144FRAS1Uncertain significancers763355889RCV000330987; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247936676679366766GA4:g.79366766G>AClinGen:CA2977599C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.5788A>G (p.Ile1930Val)80144FRAS1Uncertain significancers373432682RCV000385357; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247936679879366798AG4:g.79366798A>GClinGen:CA2977605C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.5857-5A>G80144FRAS1Likely pathogenic-1RCV001807684; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247936787679367876AG79367876-
NM_025074.7(FRAS1):c.5862G>T (p.Lys1954Asn)80144FRAS1Uncertain significancers200547348RCV001157151; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247936788679367886GT4:g.79367886G>T-
NM_025074.7(FRAS1):c.5865C>T (p.Asn1955=)80144FRAS1Conflicting interpretations of pathogenicityrs201750748RCV000262786|RCV000873523; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247936788979367889CT4:g.79367889C>TClinGen:CA2977649C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.5952dup (p.Asp1985fs)80144FRAS1Pathogenicrs1718847595RCV001172434; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247936797479367975CCA4:g.79367974_79367975insA-
NM_025074.7(FRAS1):c.6010G>A (p.Gly2004Ser)80144FRAS1Pathogenicrs771251344RCV001172433; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247936803479368034GA4:g.79368034G>A-
NM_025074.7(FRAS1):c.6010+8A>G80144FRAS1Benignrs7670555RCV000318010|RCV002057962; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247936804279368042AGNC_000004.11:g.79368042A>GClinGen:CA2977677C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.6010+10G>A80144FRAS1Benignrs78537685RCV000372672|RCV002057963; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247936804479368044GA4:g.79368044G>AClinGen:CA2977679C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.6010+13C>T80144FRAS1Benignrs75774018RCV000278438|RCV002061249; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247936804779368047CT4:g.79368047C>TClinGen:CA2977680C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.6039T>C (p.Ser2013=)80144FRAS1Benignrs76472539RCV000342802|RCV000864603; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247936923579369235TC4:g.79369235T>CClinGen:CA2977688C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.6124C>T (p.Pro2042Ser)80144FRAS1Benignrs60539739RCV000378700|RCV000872358; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247936932079369320CT4:g.79369320C>TClinGen:CA2977703C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.6202A>T (p.Lys2068Ter)80144FRAS1Pathogenic-1RCV001376187; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247936939879369398AT79369398-
NM_025074.7(FRAS1):c.6252C>T (p.Asn2084=)80144FRAS1Benignrs114956797RCV000284259|RCV000864604; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247936944879369448CT4:g.79369448C>TClinGen:CA2977726C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.6286C>T (p.Arg2096Cys)80144FRAS1Uncertain significancers193229946RCV001151693|RCV001858992; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247937131679371316CT4:g.79371316C>T-
NM_025074.7(FRAS1):c.6301C>T (p.His2101Tyr)80144FRAS1Benign/Likely benignrs183398121RCV000339469|RCV000871375|RCV001821070; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202|MedGen:CN16937447937133179371331CT4:g.79371331C>TClinGen:CA2977747C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.6303C>G (p.His2101Gln)80144FRAS1Uncertain significancers1718978389RCV001197810; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247937133379371333CG4:g.79371333C>G-
NM_025074.7(FRAS1):c.6342del (p.Met2115fs)80144FRAS1Likely pathogenic-1RCV001807683; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247937137179371371GTG79371370-
NM_025074.7(FRAS1):c.6433C>T (p.Arg2145Ter)80144FRAS1Pathogenic-1RCV001645008; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247937146379371463CT79371463-
NM_025074.7(FRAS1):c.6444C>T (p.Thr2148=)80144FRAS1Benignrs17003235RCV000243803|RCV000396201|RCV002058349; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247937147479371474CTNC_000004.11:g.79371474C>TClinGen:CA2977783C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.6468C>T (p.His2156=)80144FRAS1Benignrs753752RCV000178609|RCV000309112|RCV002054119; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247937293079372930CT4:g.79372930C>TClinGen:CA202954C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.6530T>C (p.Val2177Ala)80144FRAS1Benign/Likely benignrs76345011RCV000274838|RCV000907976|RCV001152933; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247937299279372992TC4:g.79372992T>CClinGen:CA2977816CN169374 not specified;
NM_025074.7(FRAS1):c.6569C>T (p.Ser2190Phe)80144FRAS1Conflicting interpretations of pathogenicityrs200166354RCV000345247|RCV000980053; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247937303179373031CTNC_000004.11:g.79373031C>TClinGen:CA2977821C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.6608C>T (p.Thr2203Ile)80144FRAS1Benignrs114373602RCV000399402|RCV000864605; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247937335379373353CTNC_000004.11:g.79373353C>TClinGen:CA2977842C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.6622C>T (p.Leu2208=)80144FRAS1Uncertain significancers373744776RCV000315047; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247937336779373367CTNC_000004.11:g.79373367C>TClinGen:CA2977843C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.6681C>G (p.Asp2227Glu)80144FRAS1Uncertain significancers776374326RCV001152934; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247937342679373426CG4:g.79373426C>G-
NM_025074.7(FRAS1):c.6684G>A (p.Gln2228=)80144FRAS1Uncertain significancers759150629RCV000369746; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247937342979373429GANC_000004.11:g.79373429G>AClinGen:CA2977853C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.6691G>A (p.Gly2231Arg)80144FRAS1Benignrs76623027RCV000407561|RCV000864606; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247937343679373436GANC_000004.11:g.79373436G>AClinGen:CA2977857C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.6726G>A (p.Gln2242=)80144FRAS1Uncertain significancers761562615RCV000312500; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247937347179373471GANC_000004.11:g.79373471G>AClinGen:CA2977863C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.6727C>T (p.Pro2243Ser)80144FRAS1Uncertain significancers764783509RCV000355589; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247937347279373472CTNC_000004.11:g.79373472C>TClinGen:CA2977864C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.6754G>A (p.Ala2252Thr)80144FRAS1Benignrs78404051RCV000263041|RCV000864607; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247937349979373499GANC_000004.11:g.79373499G>AClinGen:CA2977868C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.6763+12A>G80144FRAS1Benign/Likely benignrs185282133RCV001155568|RCV002070910; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247937352079373520AG4:g.79373520A>G-
NM_025074.7(FRAS1):c.6805C>T (p.Arg2269Ter)80144FRAS1Pathogenic-1RCV001387516|RCV001780361; NMedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247938521679385216CT79385216-
NM_025074.7(FRAS1):c.6806G>A (p.Arg2269Gln)80144FRAS1Uncertain significancers771923121RCV000315946; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247938521779385217GANC_000004.11:g.79385217G>AClinGen:CA2977895C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.6924C>T (p.Val2308=)80144FRAS1Benignrs13123710RCV000253422|RCV000354292|RCV002058350; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247938563279385632CTNC_000004.11:g.79385632C>TClinGen:CA2977932C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.6932C>T (p.Ser2311Leu)80144FRAS1Uncertain significancers202092409RCV000266447; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247938564079385640CTNC_000004.11:g.79385640C>TClinGen:CA2977936C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.6939C>T (p.Pro2313=)80144FRAS1Benign/Likely benignrs150936204RCV000324038|RCV000876609|RCV001821071; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202|MedGen:CN16937447938564779385647CTNC_000004.11:g.79385647C>TClinGen:CA2977938C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.6963_6964dup (p.Val2322fs)80144FRAS1Pathogenicrs730882179RCV000002949|RCV001093377; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247938566979385670CCGG4:g.79385669_79385670insGGClinGen:CA212804,OMIM:607830.0007C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.7011G>A (p.Ala2337=)80144FRAS1Benignrs6851427RCV000246034|RCV000376269|RCV002058351; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247938571979385719GANC_000004.11:g.79385719G>AClinGen:CA2977955C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.7029+7G>A80144FRAS1Conflicting interpretations of pathogenicityrs183687186RCV000733473|RCV001157257; NMedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247938574479385744GANC_000004.11:g.79385744G>A-
NM_025074.7(FRAS1):c.7029+9A>C80144FRAS1Benign/Likely benignrs188606284RCV000283913|RCV000865347|RCV001701865; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202|MedGen:CN16937447938574679385746ACNC_000004.11:g.79385746A>CClinGen:CA2977960C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.7030-6G>A80144FRAS1Uncertain significance-1RCV002052240; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247938735679387356GA79387356-
NM_025074.7(FRAS1):c.7033G>A (p.Glu2345Lys)80144FRAS1Conflicting interpretations of pathogenicityrs56291926RCV000305628|RCV001157258; NMedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247938736579387365GA4:g.79387365G>AClinGen:CA2977978CN169374 not specified;
NM_025074.7(FRAS1):c.7035G>A (p.Glu2345=)80144FRAS1Uncertain significancers886059633RCV000327285; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247938736779387367GANC_000004.11:g.79387367G>AClinGen:CA10621737C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.7039G>T (p.Val2347Phe)80144FRAS1Conflicting interpretations of pathogenicityrs201369510RCV000384240|RCV000488371|RCV001824664; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202|MedGen:CN16937447938737179387371GT4:g.79387371G>TClinGen:CA246305C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.7074C>T (p.Gly2358=)80144FRAS1Benignrs7660641RCV000287606|RCV000872359; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247938740679387406CTNC_000004.11:g.79387406C>TClinGen:CA2977990C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.7084C>T (p.Arg2362Ter)80144FRAS1Likely pathogenicrs777438557RCV001283829; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247938741679387416CT79387416-
NM_025074.7(FRAS1):c.7085G>A (p.Arg2362Gln)80144FRAS1Uncertain significancers865839705RCV001157259; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247938741779387417GA4:g.79387417G>A-
NM_025074.7(FRAS1):c.7110C>T (p.His2370=)80144FRAS1Benignrs7660664RCV000249146|RCV000351573|RCV001651252; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247938744279387442CTNC_000004.11:g.79387442C>TClinGen:CA2977998C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.7132A>G (p.Lys2378Glu)80144FRAS1Benignrs7684722RCV000253922|RCV000395153|RCV001711577; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247938746479387464AGNC_000004.11:g.79387464A>GClinGen:CA2978000C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.7219A>T (p.Thr2407Ser)80144FRAS1Uncertain significancers886059634RCV000293042; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247938755179387551ATNC_000004.11:g.79387551A>TClinGen:CA10619267C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.7223A>G (p.Asn2408Ser)80144FRAS1Uncertain significancers201277074RCV000350355|RCV001573892; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247938755579387555AGNC_000004.11:g.79387555A>GClinGen:CA2978013C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.7238T>C (p.Ile2413Thr)80144FRAS1Uncertain significancers199596557RCV001151797; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247938757079387570TC4:g.79387570T>C-
NM_025074.7(FRAS1):c.7254dup (p.Glu2419fs)80144FRAS1Pathogenic-1RCV001535834; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247938758279387583GGA79387582-
NM_025074.7(FRAS1):c.7254A>G (p.Lys2418=)80144FRAS1Benignrs34840208RCV000398451|RCV001702627|RCV002061250; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN169374|MedGen:CN51720247938758679387586AGNC_000004.11:g.79387586A>GClinGen:CA2978020C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.7371+11T>C80144FRAS1Benignrs7664505RCV000245741|RCV000301405|RCV002058352; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247939125679391256TCNC_000004.11:g.79391256T>CClinGen:CA2978069C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.7422C>A (p.Thr2474=)80144FRAS1Uncertain significancers759674249RCV001151798; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247939338479393384CA4:g.79393384C>A-
NM_025074.7(FRAS1):c.7441T>A (p.Tyr2481Asn)80144FRAS1Uncertain significancers148042277RCV001153047; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247939340379393403TA4:g.79393403T>A-
NM_025074.7(FRAS1):c.7451C>T (p.Thr2484Met)80144FRAS1Uncertain significancers200888184RCV000354018|RCV001591011; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247939341379393413CTNC_000004.11:g.79393413C>TClinGen:CA2978101C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.7522+1G>T80144FRAS1Pathogenicrs730882180RCV000002950; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247939348579393485GTNC_000004.11:g.79393485G>TClinGen:CA212805,OMIM:607830.0008C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.7522+12C>G80144FRAS1Uncertain significancers188066525RCV000400371; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247939349679393496CGNC_000004.11:g.79393496C>GClinGen:CA2978123C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.7523-3_7523-2del80144FRAS1Likely pathogenic-1RCV001781128; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247939458779394588TCAT79394586-
NM_025074.7(FRAS1):c.7551T>A (p.Tyr2517Ter)80144FRAS1Conflicting interpretations of pathogenicityrs745597204RCV000223984|RCV000778741|RCV001328302; NMedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805, Orphanet:9354547939462079394620TANC_000004.11:g.79394620T>AClinGen:CA2978147
NM_025074.7(FRAS1):c.7573C>T (p.Arg2525Cys)80144FRAS1Uncertain significancers376675521RCV001153048; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247939464279394642CT4:g.79394642C>T-
NM_025074.7(FRAS1):c.7622A>G (p.Asn2541Ser)80144FRAS1Conflicting interpretations of pathogenicityrs144530996RCV000304479|RCV000873180; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247939469179394691AGNC_000004.11:g.79394691A>GClinGen:CA2978164C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.7633G>A (p.Asp2545Asn)80144FRAS1Benignrs4388111RCV000361577|RCV000870847; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247939470279394702GANC_000004.11:g.79394702G>AClinGen:CA2978166C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.7652A>G (p.Gln2551Arg)80144FRAS1Benignrs183712679RCV000265000|RCV000870879; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247939472179394721AGNC_000004.11:g.79394721A>GClinGen:CA2978167C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.7701G>A (p.Lys2567=)80144FRAS1Benignrs79849142RCV000322445|RCV000870678; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247939661079396610GANC_000004.11:g.79396610G>AClinGen:CA2978185C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.7722G>A (p.Thr2574=)80144FRAS1Conflicting interpretations of pathogenicityrs569422992RCV000365383|RCV000916600; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247939663179396631GANC_000004.11:g.79396631G>AClinGen:CA2978191C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.7758C>T (p.Ile2586=)80144FRAS1Benignrs77602894RCV000273188|RCV000870679; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247939666779396667CTNC_000004.11:g.79396667C>TClinGen:CA2978201C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.7826del (p.Gln2609fs)80144FRAS1Pathogenic-1RCV001783310; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247939673579396735CAC79396734-
NM_025074.7(FRAS1):c.7923T>C (p.Asn2641=)80144FRAS1Uncertain significancers765455808RCV000325784; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247939904079399040TCNC_000004.11:g.79399040T>CClinGen:CA2978251C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.8002A>G (p.Asn2668Asp)80144FRAS1Uncertain significancers760944447RCV001155667; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247939911979399119AG4:g.79399119A>G-
NM_025074.7(FRAS1):c.8004C>T (p.Asn2668=)80144FRAS1Uncertain significancers886059635RCV000382746; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247939912179399121CTNC_000004.11:g.79399121C>TClinGen:CA10621738C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.8010C>T (p.Thr2670=)80144FRAS1Conflicting interpretations of pathogenicityrs370597256RCV000872609|RCV001155668; NMedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247939912779399127CT4:g.79399127C>T-
NM_025074.7(FRAS1):c.8098+1G>T80144FRAS1Pathogenicrs376088537RCV001172435; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247939921679399216GT4:g.79399216G>T-
NM_025074.7(FRAS1):c.8125A>G (p.Ile2709Val)80144FRAS1Uncertain significancers762129626RCV000294681; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247940055479400554AGNC_000004.11:g.79400554A>GClinGen:CA2978292C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.8215G>A (p.Ala2739Thr)80144FRAS1Benignrs192476468RCV000872043|RCV001155669|RCV001727814; NMedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN16937447940064479400644GA4:g.79400644G>A-
NM_025074.7(FRAS1):c.8295G>A (p.Glu2765=)80144FRAS1Uncertain significancers372900422RCV001157345; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247940072479400724GA4:g.79400724G>A-
NM_025074.7(FRAS1):c.8329T>C (p.Ser2777Pro)80144FRAS1Uncertain significancers773401610RCV001157346; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247940075879400758TC4:g.79400758T>C-
NM_025074.7(FRAS1):c.8341C>T (p.Arg2781Cys)80144FRAS1Uncertain significancers190483418RCV001157347; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247940077079400770CT4:g.79400770C>T-
NM_025074.7(FRAS1):c.8414A>G (p.Asn2805Ser)80144FRAS1Conflicting interpretations of pathogenicityrs117838818RCV000864878|RCV001157348|RCV001252860; NMedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|Human Phenotype Ontology:HP:0000252,Human Phenotype Ontology:HP:0001366,Human Phenotype Ontology:HP:0005485,Human Phenotype Ontology:HP:0005489,Human Phenotype Ontology:HP:00047940084379400843AG4:g.79400843A>G-
NM_025074.7(FRAS1):c.8417C>T (p.Thr2806Met)80144FRAS1Benignrs114190041RCV000333266|RCV000870652; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247940084679400846CTNC_000004.11:g.79400846C>TClinGen:CA2978352C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.8439C>T (p.Asp2813=)80144FRAS1Benignrs11098194RCV000251274|RCV000385525|RCV002058353; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247940086879400868CTNC_000004.11:g.79400868C>TClinGen:CA2978357C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.8440G>A (p.Ala2814Thr)80144FRAS1Uncertain significancers559602357RCV001157349; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247940086979400869GA4:g.79400869G>A-
NM_025074.7(FRAS1):c.8440G>T (p.Ala2814Ser)80144FRAS1Uncertain significancers559602357RCV001157350; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247940086979400869GT4:g.79400869G>T-
NM_025074.7(FRAS1):c.8441C>T (p.Ala2814Val)80144FRAS1Uncertain significancers886059636RCV000293603; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247940087079400870CTNC_000004.11:g.79400870C>TClinGen:CA10618351C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.8443+8A>G80144FRAS1Conflicting interpretations of pathogenicityrs373820698RCV000336626|RCV000926026; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247940088079400880AG4:g.79400880A>GClinGen:CA2978361C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.8444-15T>C80144FRAS1Uncertain significancers373332959RCV000394370; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247940294379402943TC4:g.79402943T>CClinGen:CA2978374C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.8460A>G (p.Pro2820=)80144FRAS1Conflicting interpretations of pathogenicityrs200879198RCV001151898|RCV002070842; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247940297479402974AG4:g.79402974A>G-
NM_025074.7(FRAS1):c.8486C>A (p.Ser2829Tyr)80144FRAS1Benign/Likely benignrs376788346RCV000278244|RCV002061251; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247940300079403000CA4:g.79403000C>AClinGen:CA2978389C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.8515C>T (p.Arg2839Trp)80144FRAS1Uncertain significancers373073168RCV000335599; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247940302979403029CT4:g.79403029C>TClinGen:CA2978400C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.8535T>A (p.Ser2845=)80144FRAS1Uncertain significancers773905369RCV001151899; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247940304979403049TA4:g.79403049T>A-
NM_025074.7(FRAS1):c.8556C>T (p.Tyr2852=)80144FRAS1Uncertain significancers778885038RCV000394378; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247940307079403070CT4:g.79403070C>TClinGen:CA2978409C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.8574G>A (p.Lys2858=)80144FRAS1Benign/Likely benignrs201745281RCV000305485|RCV000872020|RCV001821072; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202|MedGen:CN16937447940308879403088GA4:g.79403088G>AClinGen:CA2978413C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.8602C>T (p.Gln2868Ter)80144FRAS1Pathogenicrs120074156RCV000002943; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247940311679403116CT4:g.79403116C>TOMIM:607830.0001,ClinGen:CA115769C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.8604+5G>A80144FRAS1Likely pathogenicrs200282443RCV001172428|RCV001328204; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805, Orphanet:9354547940312379403123GA4:g.79403123G>A-
NM_025074.7(FRAS1):c.8605-7C>T80144FRAS1Uncertain significancers765550592RCV000339255; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247940353579403535CT4:g.79403535C>TClinGen:CA2978447C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.8613C>G (p.Thr2871=)80144FRAS1Uncertain significancers758106272RCV000400902; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247940355079403550CG4:g.79403550C>GClinGen:CA2978449C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.8643G>A (p.Pro2881=)80144FRAS1Uncertain significancers749014065RCV000309042; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247940358079403580GA4:g.79403580G>AClinGen:CA2978457C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.8698G>A (p.Glu2900Lys)80144FRAS1Likely benignrs150998139RCV000366027|RCV000903182; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247940363579403635GA4:g.79403635G>AClinGen:CA2978467C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.8705C>T (p.Thr2902Ile)80144FRAS1Uncertain significancers757116242RCV000269170; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247940364279403642CT4:g.79403642C>TClinGen:CA2978469C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.8725A>T (p.Ile2909Phe)80144FRAS1Uncertain significancers367742749RCV001153158; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247940366279403662AT4:g.79403662A>T-
NM_025074.7(FRAS1):c.8745C>T (p.Phe2915=)80144FRAS1Benignrs41327848RCV000243075|RCV000307968|RCV002058354; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247940368279403682CTNC_000004.11:g.79403682C>TClinGen:CA2978475C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.8832C>T (p.Ser2944=)80144FRAS1Benign/Likely benignrs114854941RCV000729980|RCV000870746|RCV001155759; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247941010879410108CTNC_000004.11:g.79410108C>T-
NM_025074.7(FRAS1):c.8844C>T (p.Ser2948=)80144FRAS1Uncertain significancers778096225RCV001155760; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247941012079410120CT4:g.79410120C>T-
NM_025074.7(FRAS1):c.8846A>T (p.Tyr2949Phe)80144FRAS1Uncertain significancers200212920RCV000179228|RCV001155761; NMedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247941012279410122AT4:g.79410122A>TClinGen:CA246504CN169374 not specified;
NM_025074.7(FRAS1):c.8940A>G (p.Thr2980=)80144FRAS1Conflicting interpretations of pathogenicityrs375788413RCV000864267|RCV001155762; NMedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247941021679410216AG4:g.79410216A>G-
NM_025074.7(FRAS1):c.8958+4A>G80144FRAS1Uncertain significancers368613886RCV000370839; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247941023879410238AG4:g.79410238A>GClinGen:CA2978529C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.8959-11A>G80144FRAS1Benignrs112232078RCV000273855|RCV002057964; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247941794879417948AG4:g.79417948A>GClinGen:CA2978545C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.8985C>T (p.His2995=)80144FRAS1Conflicting interpretations of pathogenicityrs201241555RCV000331250|RCV000895641; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247941798579417985CT4:g.79417985C>TClinGen:CA2978550C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.9013C>T (p.Gln3005Ter)80144FRAS1Pathogenicrs120074157RCV000002944; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247941801379418013CT4:g.79418013C>TClinGen:CA115771,OMIM:607830.0002C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.9111A>G (p.Glu3037=)80144FRAS1Uncertain significancers1720523467RCV001155763; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247941811179418111AG4:g.79418111A>G-
NM_025074.7(FRAS1):c.9116-11T>C80144FRAS1Benignrs7677541RCV000246248|RCV000374156|RCV001668587; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247942086479420864TCNC_000004.11:g.79420864T>CClinGen:CA2978585C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.9116-6C>T80144FRAS1Benignrs76630865RCV000241899|RCV001157469; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247942086979420869CTNC_000004.11:g.79420869C>TClinGen:CA2978587CN169374 not specified;
NM_025074.7(FRAS1):c.9116-5C>G80144FRAS1Benignrs7695038RCV000250938|RCV000263121|RCV001668588; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247942087079420870CGNC_000004.11:g.79420870C>GClinGen:CA2978588C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.9123_9124del (p.Thr3041_Ile3042insTer)80144FRAS1Likely pathogenic-1RCV001535980; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247942088279420883CCAC79420881-
NM_025074.7(FRAS1):c.9154C>T (p.Arg3052Trp)80144FRAS1Uncertain significancers779931297RCV000316018; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247942091379420913CT4:g.79420913C>TClinGen:CA2978598C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.9161C>G (p.Pro3054Arg)80144FRAS1Uncertain significancers754878371RCV001157470; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247942092079420920CG4:g.79420920C>G-
NM_025074.7(FRAS1):c.9163G>A (p.Ala3055Thr)80144FRAS1Uncertain significancers375885501RCV001157471; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247942092279420922GA4:g.79420922G>A-
NM_025074.7(FRAS1):c.9182C>T (p.Ala3061Val)80144FRAS1Uncertain significancers886059637RCV000372844; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247942094179420941CTNC_000004.11:g.79420941C>TClinGen:CA10619287C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.9183G>A (p.Ala3061=)80144FRAS1Benignrs139589570RCV000285466|RCV000870934; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247942094279420942GANC_000004.11:g.79420942G>AClinGen:CA2978605C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.9252G>T (p.Arg3084=)80144FRAS1Benignrs11933630RCV000246697|RCV000342606|RCV002058355; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247942101179421011GT4:g.79421011G>TClinGen:CA2978620C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.9291G>A (p.Lys3097=)80144FRAS1Conflicting interpretations of pathogenicityrs376458338RCV000376218|RCV000865063; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247942105079421050GANC_000004.11:g.79421050G>AClinGen:CA2978626C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.9296G>A (p.Arg3099Gln)80144FRAS1Conflicting interpretations of pathogenicityrs149692526RCV000872021|RCV001151993|RCV001817014; NMedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN16937447942105579421055GA4:g.79421055G>A-
NM_025074.7(FRAS1):c.9316+2T>A80144FRAS1Pathogenicrs1358085095RCV001172406; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247942107779421077TA4:g.79421077T>A-
NM_025074.7(FRAS1):c.9364C>T (p.Arg3122Trp)80144FRAS1Conflicting interpretations of pathogenicityrs200346497RCV000179606|RCV000207380|RCV001151994; NMedGen:CN517202|MONDO:MONDO:0020147,MedGen:CN120488, Orphanet:98555|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247942862279428622CT4:g.79428622C>TClinGen:CA246910CN235161 Anophthalmia - microphthalmia;
NM_025074.7(FRAS1):c.9446C>T (p.Thr3149Met)80144FRAS1Conflicting interpretations of pathogenicityrs150680111RCV000872022|RCV001151995|RCV001817015; NMedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN16937447942870479428704CT4:g.79428704C>T-
NM_025074.7(FRAS1):c.9466G>T (p.Glu3156Ter)80144FRAS1Pathogenicrs1227013948RCV001172431; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247942872479428724GT4:g.79428724G>T-
NM_025074.7(FRAS1):c.9478A>G (p.Ser3160Gly)80144FRAS1Uncertain significancers763114326RCV001151996; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247942873679428736AG4:g.79428736A>G-
NM_025074.7(FRAS1):c.9505-4G>A80144FRAS1Uncertain significancers367680303RCV000284151; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247942988179429881GANC_000004.11:g.79429881G>AClinGen:CA2978685C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.9538G>A (p.Glu3180Lys)80144FRAS1Uncertain significancers369950838RCV001153257; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247942991879429918GA4:g.79429918G>A-
NM_025074.7(FRAS1):c.9541G>A (p.Val3181Ile)80144FRAS1Uncertain significancers1464507728RCV001153258; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247942992179429921GA4:g.79429921G>A-
NM_025074.7(FRAS1):c.9602C>T (p.Pro3201Leu)80144FRAS1Uncertain significancers886059638RCV000346175; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247942998279429982CTNC_000004.11:g.79429982C>TClinGen:CA10619290C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.9607G>A (p.Asp3203Asn)80144FRAS1Uncertain significancers540286890RCV000396675; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247942998779429987GANC_000004.11:g.79429987G>AClinGen:CA2978710C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.9621del (p.Arg3208fs)80144FRAS1Uncertain significancers1560418388RCV000778742; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247942999879429998TCTNC_000004.11:g.79430001del-
NM_025074.7(FRAS1):c.9627C>T (p.Tyr3209=)80144FRAS1Conflicting interpretations of pathogenicityrs377369857RCV000281353|RCV001153259; NMedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247943000779430007CT4:g.79430007C>TClinGen:CA2978715CN169374 not specified;
NM_025074.7(FRAS1):c.9627C>A (p.Tyr3209Ter)80144FRAS1Pathogenicrs377369857RCV001172436; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247943000779430007CA4:g.79430007C>A-
NM_025074.7(FRAS1):c.9630T>C (p.Ala3210=)80144FRAS1Uncertain significancers761161131RCV000306470; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247943001079430010TCNC_000004.11:g.79430010T>CClinGen:CA2978717C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.9658G>A (p.Gly3220Ser)80144FRAS1Uncertain significancers552881646RCV000344955; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247943003879430038GANC_000004.11:g.79430038G>AClinGen:CA2978725C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.9759A>G (p.Pro3253=)80144FRAS1Benignrs61741742RCV000401830|RCV000870807; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247943013979430139AGNC_000004.11:g.79430139A>GClinGen:CA2978746C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln)80144FRAS1Benign/Likely benignrs61729366RCV000179644|RCV000315339|RCV000577951|RCV000872220; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|Human Phenotype Ontology:HP:0000776,Human Phenotype Ontology:HP:0006604,MONDO:MONDO:0005711,MeSH:D065630,MedGen:C0235833, Orphanet:2140|MedGen:CN51720247943245379432453GA4:g.79432453G>AClinGen:CA203377C0235833 142340 Congenital diaphragmatic hernia;
NM_025074.7(FRAS1):c.9808A>C (p.Arg3270=)80144FRAS1Benignrs3749488RCV000367732|RCV002057965|RCV001702011; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202|MedGen:CN16937447943245579432455ACNC_000004.11:g.79432455A>CClinGen:CA2978770C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.9827T>C (p.Val3276Ala)80144FRAS1Uncertain significancers78006948RCV001155855|RCV001573252; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247943247479432474TC4:g.79432474T>C-
NM_025074.7(FRAS1):c.9853C>T (p.His3285Tyr)80144FRAS1Benign/Likely benignrs182196851RCV000870931|RCV001155856; NMedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247943250079432500CT4:g.79432500C>T-
NM_025074.7(FRAS1):c.9955C>G (p.Gln3319Glu)80144FRAS1Benignrs78619145RCV000275489|RCV000870653; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247943260279432602CGNC_000004.11:g.79432602C>GClinGen:CA2978810C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10002G>A (p.Glu3334=)80144FRAS1Benignrs80346282RCV000300153|RCV000865493; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247943264979432649GANC_000004.11:g.79432649G>AClinGen:CA2978817C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10008G>A (p.Pro3336=)80144FRAS1Benign/Likely benignrs76120498RCV000357479|RCV000873324; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247943265579432655GANC_000004.11:g.79432655G>AClinGen:CA2978819C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10014-14del80144FRAS1Uncertain significancers779194826RCV000260277; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247943453179434531GCGNC_000004.11:g.79434532delClinGen:CA2978840C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10041C>G (p.His3347Gln)80144FRAS1Conflicting interpretations of pathogenicityrs552676865RCV001157554|RCV002032458; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247943457379434573CG4:g.79434573C>G-
NM_025074.7(FRAS1):c.10077G>A (p.Pro3359=)80144FRAS1Benign/Likely benignrs183724131RCV000875622|RCV001157555; NMedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247943460979434609GA4:g.79434609G>A-
NM_025074.7(FRAS1):c.10091A>G (p.His3364Arg)80144FRAS1Uncertain significancers922004210RCV001157556; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247943462379434623AG4:g.79434623A>G-
NM_025074.7(FRAS1):c.10140T>A (p.Asn3380Lys)80144FRAS1Uncertain significancers753588022RCV001172437; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247943467279434672TA4:g.79434672T>A-
NM_025074.7(FRAS1):c.10153T>G (p.Tyr3385Asp)80144FRAS1Benignrs35933858RCV000253044|RCV000317853|RCV002058341; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247943468579434685TGNC_000004.11:g.79434685T>GClinGen:CA2978870C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10160T>C (p.Leu3387Pro)80144FRAS1Benignrs137982616RCV000873268|RCV001157557; NMedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247943469279434692TC4:g.79434692T>C-
NM_025074.7(FRAS1):c.10166G>C (p.Gly3389Ala)80144FRAS1Uncertain significancers745919146RCV001157558; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247943469879434698GC4:g.79434698G>C-
NM_025074.7(FRAS1):c.10174+1G>A80144FRAS1Uncertain significancers1560420794RCV000778743; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247943470779434707GANC_000004.11:g.79434707G>A-
NM_025074.7(FRAS1):c.10230C>T (p.Tyr3410=)80144FRAS1Benignrs34034599RCV000379498|RCV000870654; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247943700879437008CTNC_000004.11:g.79437008C>TClinGen:CA2978893C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10249G>A (p.Asp3417Asn)80144FRAS1Uncertain significancers373601771RCV001157559; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247943702779437027GA4:g.79437027G>A-
NM_025074.7(FRAS1):c.10269G>T (p.Pro3423=)80144FRAS1Benignrs34806279RCV000268638|RCV000865361; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247943704779437047GTNC_000004.11:g.79437047G>TClinGen:CA2978910C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10278C>T (p.Ile3426=)80144FRAS1Benignrs34678339RCV000321330|RCV000865362; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247943705679437056CTNC_000004.11:g.79437056C>TClinGen:CA2978914C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10287del (p.Leu3428_Tyr3429insTer)80144FRAS1Pathogenicrs886037765RCV000257971; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247943706579437065ACANC_000004.11:g.79437065delClinGen:CA10575842C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10299C>A (p.Asn3433Lys)80144FRAS1Uncertain significancers377102088RCV001152097; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247943707779437077CA4:g.79437077C>A-
NM_025074.7(FRAS1):c.10377C>T (p.Thr3459=)80144FRAS1Benignrs3749487RCV000244857|RCV000378270|RCV002058342; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247943715579437155CTNC_000004.11:g.79437155C>TClinGen:CA2978931C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10389+11C>T80144FRAS1Benignrs74632598RCV000248810|RCV000290835|RCV002058343; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247943717879437178CTNC_000004.11:g.79437178C>TClinGen:CA2978937C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10390-6C>T80144FRAS1Conflicting interpretations of pathogenicityrs139412411RCV000329374|RCV002057966; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247944047979440479CTNC_000004.11:g.79440479C>TClinGen:CA2978955C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10390-5G>A80144FRAS1Uncertain significancers753366978RCV000381660; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247944048079440480GANC_000004.11:g.79440480G>AClinGen:CA2978956C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10425C>T (p.His3475=)80144FRAS1Benign/Likely benignrs376096303RCV000289608|RCV000955144; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247944052079440520CTNC_000004.11:g.79440520C>TClinGen:CA2978963C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10442C>T (p.Ser3481Phe)80144FRAS1Uncertain significancers886059640RCV000351532; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247944053779440537CTNC_000004.11:g.79440537C>TClinGen:CA10618384C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10494C>T (p.Thr3498=)80144FRAS1Benignrs149604281RCV000395253|RCV002057967; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247944058979440589CTNC_000004.11:g.79440589C>TClinGen:CA2978978C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10539A>G (p.Thr3513=)80144FRAS1Benign/Likely benignrs199921300RCV000293521|RCV000334777|RCV000885162; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN169374|MedGen:CN51720247944063479440634AG4:g.79440634A>GClinGen:CA2978984C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10541-1G>A80144FRAS1Pathogenicrs1721385740RCV001172438; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247944267679442676GA4:g.79442676G>A-
NM_025074.7(FRAS1):c.10594A>G (p.Ile3532Val)80144FRAS1Benign/Likely benignrs144715071RCV000336848|RCV000406248|RCV000870808; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN169374|MedGen:CN51720247944273079442730AG4:g.79442730A>GClinGen:CA2979013C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10598G>A (p.Arg3533Gln)80144FRAS1Benignrs115878217RCV000870848|RCV001153365|RCV001817001; NMedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN16937447944273479442734GA4:g.79442734G>A-
NM_025074.7(FRAS1):c.10609C>T (p.Arg3537Cys)80144FRAS1Uncertain significancers779521854RCV000400178|RCV000494230; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247944274579442745CTNC_000004.11:g.79442745C>TClinGen:CA2979020C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10610G>A (p.Arg3537His)80144FRAS1Uncertain significancers547089905RCV001153366; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247944274679442746GA4:g.79442746G>A-
NM_025074.7(FRAS1):c.10648+13C>A80144FRAS1Uncertain significancers886059641RCV000297127; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247944279779442797CANC_000004.11:g.79442797C>AClinGen:CA10621745C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10648+24_10648+25del80144FRAS1Conflicting interpretations of pathogenicityrs397994139RCV000399918|RCV002057968; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247944280079442801GTTGNC_000004.11:g.79442808_79442809delClinGen:CA2979030C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10648+25del80144FRAS1Benignrs397994139RCV000354281|RCV002061252; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247944280079442800GTGNC_000004.11:g.79442809delClinGen:CA2979029C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10649-29T>A80144FRAS1Benign-1RCV001703309; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247944377479443774TA79443774-
NM_025074.7(FRAS1):c.10683A>T (p.Glu3561Asp)80144FRAS1Benignrs931605RCV000253563|RCV000305288|RCV002058344; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247944383779443837ATNC_000004.11:g.79443837A>TClinGen:CA2979047C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10689A>T (p.Lys3563Asn)80144FRAS1Uncertain significancers886059643RCV000357873; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247944384379443843ATNC_000004.11:g.79443843A>TClinGen:CA10618402C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10696G>A (p.Val3566Ile)80144FRAS1Benignrs931606RCV000245288|RCV000265442|RCV002058345; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247944385079443850GANC_000004.11:g.79443850G>AClinGen:CA2979050C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10724T>C (p.Ile3575Thr)80144FRAS1Uncertain significancers202198985RCV001155971; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247944387879443878TC4:g.79443878T>C-
NM_025074.7(FRAS1):c.10743A>G (p.Leu3581=)80144FRAS1Uncertain significancers886059644RCV000327684; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247944389779443897AGNC_000004.11:g.79443897A>GClinGen:CA10619320C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10753G>A (p.Ala3585Thr)80144FRAS1Uncertain significancers748159035RCV001155972; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247944390779443907GA4:g.79443907G>A-
NM_025074.7(FRAS1):c.10809-12G>T80144FRAS1Uncertain significancers886059645RCV000365952; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247944768379447683GTNC_000004.11:g.79447683G>TClinGen:CA10621746C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10809-11C>T80144FRAS1Uncertain significancers1721539751RCV001155973; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247944768479447684CT4:g.79447684C>T-
NM_025074.7(FRAS1):c.10820C>G (p.Ser3607Ter)80144FRAS1Pathogenicrs1006839535RCV000782142; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247944770679447706CG4:g.79447706C>G-
NM_025074.7(FRAS1):c.10852A>G (p.Thr3618Ala)80144FRAS1Likely benignrs192225415RCV000269085; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247944773879447738AGNC_000004.11:g.79447738A>GClinGen:CA2979089C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10869G>A (p.Gln3623=)80144FRAS1Uncertain significancers778772211RCV000326546; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247944775579447755GA4:g.79447755G>AClinGen:CA2979091C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10877T>C (p.Val3626Ala)80144FRAS1Benignrs34670941RCV000250854|RCV000388114|RCV002058346; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247944776379447763TCNC_000004.11:g.79447763T>CClinGen:CA2979092C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.10999C>T (p.Gln3667Ter)80144FRAS1Pathogenicrs1721821279RCV001172439; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247945567679455676CT4:g.79455676C>T-
NM_025074.7(FRAS1):c.11037C>G (p.Pro3679=)80144FRAS1Benignrs4975070RCV000245809|RCV000292730|RCV001683114; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247945571479455714CGNC_000004.11:g.79455714C>GClinGen:CA2979122C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.11056C>T (p.Leu3686=)80144FRAS1Benignrs4975139RCV000250559|RCV000333665|RCV001536205; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247945573379455733CTNC_000004.11:g.79455733C>TClinGen:CA2979124C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.11073C>G (p.Tyr3691Ter)80144FRAS1Likely pathogenic-1RCV001781129; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247945575079455750CG79455750-
NM_025074.7(FRAS1):c.11111G>A (p.Arg3704Gln)80144FRAS1Uncertain significancers141843124RCV000388115; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247945816779458167GA4:g.79458167G>AClinGen:CA2979152C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.11158C>T (p.Gln3720Ter)80144FRAS1Pathogenicrs1219344385RCV001172410; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247945821479458214CT4:g.79458214C>T-
NM_025074.7(FRAS1):c.11220G>A (p.Thr3740=)80144FRAS1Conflicting interpretations of pathogenicityrs182887871RCV000279659|RCV000911142; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247945827679458276GA4:g.79458276G>AClinGen:CA2979166C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.11237A>C (p.Glu3746Ala)80144FRAS1Uncertain significancers1721910256RCV001152203; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247945829379458293AC4:g.79458293A>C-
NM_025074.7(FRAS1):c.11252G>A (p.Gly3751Glu)80144FRAS1Uncertain significancers1484025134RCV001152204; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247945830879458308GA4:g.79458308G>A-
NM_025074.7(FRAS1):c.11264C>T (p.Pro3755Leu)80144FRAS1Conflicting interpretations of pathogenicityrs199510509RCV000334766|RCV000388584; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247945832079458320CT4:g.79458320C>TClinGen:CA2979180C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.11270_11273del (p.Lys3757fs)80144FRAS1Pathogenicrs1578380159RCV000768557; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247945832079458323CCAAAC4:g.79458320_79458323del-
NM_025074.7(FRAS1):c.11298+1G>A80144FRAS1Pathogenicrs371268544RCV001172420; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247945835579458355GA4:g.79458355G>A-
NM_025074.7(FRAS1):c.11299-8A>C80144FRAS1Uncertain significancers368551584RCV000394486; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946044079460440AC4:g.79460440A>CClinGen:CA2979199C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.11302C>T (p.Arg3768Cys)80144FRAS1Uncertain significancers750736066RCV000280709; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946045179460451CT4:g.79460451C>TClinGen:CA2979201C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.11306A>G (p.Asn3769Ser)80144FRAS1Uncertain significancers112039037RCV000403674|RCV000764553; NMedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946045579460455AG4:g.79460455A>GClinGen:CA2979202CN169374 not specified;
NM_025074.7(FRAS1):c.11445+5_11445+11delinsC80144FRAS1Likely pathogenicrs1721982733RCV001172440; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946059979460605GTTTGGTC4:g.79460600_79460605del-
NM_025074.7(FRAS1):c.11445+68_11445+69del80144FRAS1Benignrs3062747RCV000987453; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946064879460649GAAG4:g.79460648_79460649del-
NM_025074.7(FRAS1):c.11473C>T (p.Gln3825Ter)80144FRAS1Pathogenicrs765622092RCV001172425; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946171279461712CT4:g.79461712C>T-
NM_025074.7(FRAS1):c.11475G>C (p.Gln3825His)80144FRAS1Uncertain significancers1722015455RCV001152205; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946171479461714GC4:g.79461714G>C-
NM_025074.7(FRAS1):c.11510G>C (p.Gly3837Ala)80144FRAS1Uncertain significancers1722017063RCV001152206; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946174979461749GC4:g.79461749G>C-
NM_025074.7(FRAS1):c.11559G>A (p.Arg3853=)80144FRAS1Uncertain significancers989874672RCV001153490; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946179879461798GA4:g.79461798G>A-
NM_025074.7(FRAS1):c.11589C>T (p.Ile3863=)80144FRAS1Uncertain significancers763508870RCV000340486; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946182879461828CT4:g.79461828C>TClinGen:CA2979261C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.11605A>G (p.Ile3869Val)80144FRAS1Benign/Likely benignrs145035489RCV000283373|RCV000394472|RCV000870810; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247946184479461844AG4:g.79461844A>GClinGen:CA2979264C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.11637T>C (p.Asn3879=)80144FRAS1Uncertain significancers147734882RCV001153491; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946187679461876TC4:g.79461876T>C-
NM_025074.7(FRAS1):c.11681C>T (p.Ala3894Val)80144FRAS1Uncertain significancers772941624RCV000305214|RCV001861242; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247946192079461920CT4:g.79461920C>TClinGen:CA2979274C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.11682G>A (p.Ala3894=)80144FRAS1Conflicting interpretations of pathogenicityrs376389151RCV000902787|RCV001153492; NMedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946192179461921GA4:g.79461921G>A-
NM_025074.7(FRAS1):c.11690C>T (p.Ala3897Val)80144FRAS1Uncertain significancers373595232RCV000360016; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946192979461929CT4:g.79461929C>TClinGen:CA2979277C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.11695C>T (p.Leu3899=)80144FRAS1Benign/Likely benignrs367723684RCV001153493|RCV002070869; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247946193479461934CT4:g.79461934C>T-
NM_025074.7(FRAS1):c.11717T>C (p.Ile3906Thr)80144FRAS1Conflicting interpretations of pathogenicityrs61748814RCV000660411|RCV001572828; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247946195679461956TC4:g.79461956T>C-C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.11718T>C (p.Ile3906=)80144FRAS1Benign/Likely benignrs142389362RCV000343079|RCV000399146|RCV000870811; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247946195779461957TC4:g.79461957T>CClinGen:CA2979287C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.11720G>T (p.Gly3907Val)80144FRAS1Benignrs61748815RCV000864695|RCV001156090|RCV001729722; NMedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN16937447946195979461959GT4:g.79461959G>T-
NM_025074.7(FRAS1):c.11724T>C (p.Ser3908=)80144FRAS1Benign/Likely benignrs151307846RCV000279868|RCV000306234|RCV000870812; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247946196379461963TC4:g.79461963T>CClinGen:CA2979289C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.11726C>T (p.Ala3909Val)80144FRAS1Uncertain significancers367860092RCV001156091; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946196579461965CT4:g.79461965C>T-
NM_025074.7(FRAS1):c.11811G>A (p.Lys3937=)80144FRAS1Conflicting interpretations of pathogenicityrs373149321RCV000886339|RCV001156092; NMedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946205079462050GA4:g.79462050G>A-
NM_025074.7(FRAS1):c.11815G>A (p.Ala3939Thr)80144FRAS1Conflicting interpretations of pathogenicityrs375807410RCV001156093|RCV002070921; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247946205479462054GA4:g.79462054G>A-
NM_025074.7(FRAS1):c.11882G>A (p.Arg3961Gln)80144FRAS1Uncertain significancers370319615RCV000365847; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946212179462121GA4:g.79462121G>AClinGen:CA2979321C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.11895C>T (p.Asn3965=)80144FRAS1Conflicting interpretations of pathogenicityrs372802938RCV000271265|RCV000915001; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN51720247946213479462134CT4:g.79462134C>TClinGen:CA2979325C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.11897dup (p.Asn3967fs)80144FRAS1Pathogenicrs1560433104RCV000782358; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946213579462136GGT4:g.79462135_79462136insT-
NM_025074.7(FRAS1):c.11902A>G (p.Arg3968Gly)80144FRAS1Uncertain significancers550166836RCV000330920; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946214179462141AG4:g.79462141A>GClinGen:CA2979328C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.11907C>G (p.His3969Gln)80144FRAS1Conflicting interpretations of pathogenicityrs140492803RCV000366948|RCV000405453|RCV000870813; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN169374|MedGen:CN51720247946214679462146CG4:g.79462146C>GClinGen:CA2979329C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.11920C>T (p.Arg3974Trp)80144FRAS1Uncertain significancers759074187RCV000276616; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946215979462159CT4:g.79462159C>TClinGen:CA2979333C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.11925C>T (p.Asn3975=)80144FRAS1Uncertain significancers368578398RCV000317661; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946216479462164CT4:g.79462164C>TClinGen:CA2979335C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*5G>A80144FRAS1Uncertain significancers764066985RCV001157784; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946228379462283GA4:g.79462283G>A-
NM_025074.7(FRAS1):c.*33T>A80144FRAS1Benignrs72659058RCV000372407; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946231179462311TA4:g.79462311T>AClinGen:CA2979360C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*78G>T80144FRAS1Benignrs77632937RCV000263749; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946235679462356GT4:g.79462356G>TClinGen:CA10619327C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*84A>G80144FRAS1Uncertain significancers886059646RCV000318966; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946236279462362AGNC_000004.11:g.79462362A>GClinGen:CA10618432C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*117C>T80144FRAS1Uncertain significancers886059647RCV000378301; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946239579462395CTNC_000004.11:g.79462395C>TClinGen:CA10621750C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*122C>T80144FRAS1Uncertain significancers886059648RCV000283349; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946240079462400CTNC_000004.11:g.79462400C>TClinGen:CA10619328C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*219T>C80144FRAS1Uncertain significancers145739907RCV001152305; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946249779462497TC4:g.79462497T>C-
NM_025074.7(FRAS1):c.*221G>A80144FRAS1Uncertain significancers748263373RCV001152306; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946249979462499GA4:g.79462499G>A-
NM_025074.7(FRAS1):c.*258G>A80144FRAS1Benignrs114161007RCV001152307; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946253679462536GA4:g.79462536G>A-
NM_025074.7(FRAS1):c.*282A>T80144FRAS1Benignrs3749485RCV000342970; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946256079462560ATNC_000004.11:g.79462560A>TClinGen:CA10621753C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*319A>G80144FRAS1Uncertain significancers1722048477RCV001152308; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946259779462597AG4:g.79462597A>G-
NM_025074.7(FRAS1):c.*374C>T80144FRAS1Uncertain significancers560026397RCV000379512; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946265279462652CTNC_000004.11:g.79462652C>TClinGen:CA10618434C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*388C>G80144FRAS1Benignrs75970105RCV000289772; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946266679462666CGNC_000004.11:g.79462666C>GClinGen:CA10621749C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*391C>T80144FRAS1Likely benignrs564787250RCV001153591; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946266979462669CT4:g.79462669C>T-
NM_025074.7(FRAS1):c.*415A>G80144FRAS1Uncertain significancers759045899RCV001153592; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946269379462693AG4:g.79462693A>G-
NM_025074.7(FRAS1):c.*455C>T80144FRAS1Uncertain significancers774956318RCV001153593; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946273379462733CT4:g.79462733C>T-
NM_025074.7(FRAS1):c.*460A>G80144FRAS1Uncertain significancers760216437RCV000344629; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946273879462738AGNC_000004.11:g.79462738A>GClinGen:CA10619329C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*503T>C80144FRAS1Benignrs3749484RCV000399062; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946278179462781TCNC_000004.11:g.79462781T>CClinGen:CA10621762C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*518dup80144FRAS1Benignrs397752464RCV000309498; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946279379462794AATNC_000004.11:g.79462796dupClinGen:CA10618438C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*530G>A80144FRAS1Uncertain significancers544866402RCV000350325; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946280879462808GANC_000004.11:g.79462808G>AClinGen:CA10621767C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*708C>A80144FRAS1Benignrs111636328RCV000401953; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946298679462986CANC_000004.11:g.79462986C>AClinGen:CA10621763C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*709G>A80144FRAS1Benignrs115458096RCV000315379; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946298779462987GANC_000004.11:g.79462987G>AClinGen:CA10618441C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*731C>G80144FRAS1Benignrs116483248RCV000369247; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946300979463009CGNC_000004.11:g.79463009C>GClinGen:CA10618445C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*751T>G80144FRAS1Benignrs6832584RCV000260448; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946302979463029TGNC_000004.11:g.79463029T>GClinGen:CA10619330C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*761A>G80144FRAS1Uncertain significancers975095044RCV001156207; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946303979463039AG4:g.79463039A>G-
NM_025074.7(FRAS1):c.*808C>T80144FRAS1Benignrs59820455RCV000296870; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946308679463086CTNC_000004.11:g.79463086C>TClinGen:CA10621768C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*824T>G80144FRAS1Uncertain significancers1218870035RCV001156208; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946310279463102TG4:g.79463102T>G-
NM_025074.7(FRAS1):c.*880C>A80144FRAS1Uncertain significancers886059649RCV000356377; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946315879463158CANC_000004.11:g.79463158C>AClinGen:CA10621775C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*893C>G80144FRAS1Uncertain significancers563929109RCV000261787; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946317179463171CGNC_000004.11:g.79463171C>GClinGen:CA10621786C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*897T>G80144FRAS1Uncertain significancers1722072306RCV001157882; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946317579463175TG4:g.79463175T>G-
NM_025074.7(FRAS1):c.*926C>T80144FRAS1Uncertain significancers1227739524RCV001157883; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946320479463204CT4:g.79463204C>T-
NM_025074.7(FRAS1):c.*938A>G80144FRAS1Uncertain significancers559819253RCV000321662; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946321679463216AGNC_000004.11:g.79463216A>GClinGen:CA10618447C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*957G>C80144FRAS1Uncertain significancers886059650RCV000376194; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946323579463235GCNC_000004.11:g.79463235G>CClinGen:CA10621787C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*985G>A80144FRAS1Uncertain significancers1722075087RCV001157884; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946326379463263GA4:g.79463263G>A-
NM_025074.7(FRAS1):c.*1085C>T80144FRAS1Likely benignrs570309641RCV000267707; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946336379463363CTNC_000004.11:g.79463363C>TClinGen:CA10621796C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*1210G>A80144FRAS1Uncertain significancers886059651RCV000322909; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946348879463488GANC_000004.11:g.79463488G>AClinGen:CA10618450C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*1289G>A80144FRAS1Benignrs113324102RCV000382128; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946356779463567GANC_000004.11:g.79463567G>AClinGen:CA10619334C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*1301G>A80144FRAS1Benignrs3210826RCV000287806; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946357979463579GANC_000004.11:g.79463579G>AClinGen:CA10621797C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*1303G>A80144FRAS1Uncertain significancers1167568461RCV001152410; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946358179463581GA4:g.79463581G>A-
NM_025074.7(FRAS1):c.*1345C>T80144FRAS1Uncertain significancers886059652RCV000347474; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946362379463623CTNC_000004.11:g.79463623C>TClinGen:CA10621798C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*1384C>T80144FRAS1Uncertain significancers771590846RCV000383430; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946366279463662CTNC_000004.11:g.79463662C>TClinGen:CA10618452C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*1444T>C80144FRAS1Uncertain significancers569011445RCV001152411; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946372279463722TC4:g.79463722T>C-
NM_025074.7(FRAS1):c.*1547C>G80144FRAS1Uncertain significancers186398273RCV001152412; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946382579463825CG4:g.79463825C>G-
NM_025074.7(FRAS1):c.*1578T>C80144FRAS1Uncertain significancers776119595RCV001152413; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946385679463856TC4:g.79463856T>C-
NM_025074.7(FRAS1):c.*1613C>T80144FRAS1Uncertain significancers952918668RCV001153682; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946389179463891CT4:g.79463891C>T-
NM_025074.7(FRAS1):c.*1616C>T80144FRAS1Uncertain significancers1722098731RCV001153683; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946389479463894CT4:g.79463894C>T-
NM_025074.7(FRAS1):c.*1666G>A80144FRAS1Uncertain significancers1374310535RCV001153684; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946394479463944GA4:g.79463944G>A-
NM_025074.7(FRAS1):c.*1669A>C80144FRAS1Uncertain significancers886059653RCV000293971; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946394779463947ACNC_000004.11:g.79463947A>CClinGen:CA10618453C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*1698G>C80144FRAS1Uncertain significancers1303968996RCV001153685; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946397679463976GC4:g.79463976G>C-
NM_025074.7(FRAS1):c.*1741T>G80144FRAS1Uncertain significancers772863115RCV001153686; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946401979464019TG4:g.79464019T>G-
NM_025074.7(FRAS1):c.*1752T>C80144FRAS1Uncertain significancers762849572RCV001153687; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946403079464030TC4:g.79464030T>C-
NM_025074.7(FRAS1):c.*1787G>A80144FRAS1Uncertain significancers549532188RCV000348876; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946406579464065GANC_000004.11:g.79464065G>AClinGen:CA10621800C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*1810C>T80144FRAS1Uncertain significancers1029985381RCV001153688; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946408879464088CT4:g.79464088C>T-
NM_025074.7(FRAS1):c.*1814G>A80144FRAS1Benignrs17003321RCV000395423; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946409279464092GANC_000004.11:g.79464092G>AClinGen:CA10621769C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*1995G>T80144FRAS1Benignrs72873318RCV000298548; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946427379464273GTNC_000004.11:g.79464273G>TClinGen:CA10621783C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*2028C>G80144FRAS1Uncertain significancers1027128705RCV001156293; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946430679464306CG4:g.79464306C>G-
NM_025074.7(FRAS1):c.*2091T>C80144FRAS1Uncertain significancers764203320RCV000334852; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946436979464369TCNC_000004.11:g.79464369T>CClinGen:CA10621808C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*2154C>T80144FRAS1Benignrs3811747RCV000395453; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946443279464432CT4:g.79464432C>TClinGen:CA10621784C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*2223G>A80144FRAS1Uncertain significancers1722113270RCV001156294; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946450179464501GA4:g.79464501G>A-
NM_025074.7(FRAS1):c.*2261C>T80144FRAS1Uncertain significancers886059654RCV000299732; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946453979464539CT4:g.79464539C>TClinGen:CA10618454C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*2294G>A80144FRAS1Uncertain significancers988779314RCV001157965; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946457279464572GA4:g.79464572G>A-
NM_025074.7(FRAS1):c.*2324G>A80144FRAS1Likely benignrs186095111RCV000358998; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946460279464602GA4:g.79464602G>AClinGen:CA10621792C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*2350C>T80144FRAS1Uncertain significancers886059655RCV000264265; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946462879464628CT4:g.79464628C>TClinGen:CA10618462C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*2369C>T80144FRAS1Uncertain significancers959327675RCV001157966; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946464779464647CT4:g.79464647C>T-
NM_025074.7(FRAS1):c.*2370G>A80144FRAS1Benignrs116617672RCV000305480; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946464879464648GA4:g.79464648G>AClinGen:CA10618466C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*2489T>C80144FRAS1Benignrs11098227RCV000360200; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946476779464767TC4:g.79464767T>CClinGen:CA10619345C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*2490G>A80144FRAS1Uncertain significancers186193838RCV001157967; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946476879464768GA4:g.79464768G>A-
NM_025074.7(FRAS1):c.*2512C>T80144FRAS1Uncertain significancers886059656RCV000269947; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946479079464790CT4:g.79464790C>TClinGen:CA10621794C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*2672A>G80144FRAS1Likely benignrs144020017RCV000324993; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946495079464950AG4:g.79464950A>GClinGen:CA10621799C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*2700G>A80144FRAS1Benignrs11098228RCV000365626; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946497879464978GA4:g.79464978G>AClinGen:CA10621802C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*2811T>A80144FRAS1Benignrs114574352RCV000271036; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946508979465089TA4:g.79465089T>AClinGen:CA10618467C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*2824_*2825insTTTT80144FRAS1Benignrs397724155RCV000331007; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946510079465101AATTTT4:g.79465100_79465101insTTTTClinGen:CA10621805C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*2931del80144FRAS1Likely benignrs139811866RCV000385536; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946520979465209TAT4:g.79465209_79465209delClinGen:CA10621810C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*2941A>T80144FRAS1Uncertain significancers1259558413RCV001152508; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946521979465219AT4:g.79465219A>T-
NM_025074.7(FRAS1):c.*2951A>T80144FRAS1Uncertain significancers1722136952RCV001152509; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946522979465229AT4:g.79465229A>T-
NM_025074.7(FRAS1):c.*2957T>A80144FRAS1Uncertain significancers553394027RCV000295922; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946523579465235TA4:g.79465235T>AClinGen:CA10619346C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*3092A>G80144FRAS1Benignrs17003335RCV000332139; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946537079465370AG4:g.79465370A>GClinGen:CA10621811C0265233 219000 Cryptophthalmos syndrome;
NM_025074.7(FRAS1):c.*3142G>T80144FRAS1Likely benignrs183140136RCV000373476; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946542079465420GT4:g.79465420G>TClinGen:CA10618468C0265233 219000 Cryptophthalmos syndrome;
NM_025074.6(FRAS1):c.*3146_*3149delTTTG80144FRAS1Likely benignrs148508826RCV000297090; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:205247946542479465427TTTTGT4:g.79465424_79465427delClinGen:CA10654674C0265233 219000 Cryptophthalmos syndrome;
NM_207361.5(FREM2):c.-285C>G341640FREM2Uncertain significancers573143355RCV000309662; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052133926119739261197CGNC_000013.10:g.39261197C>GClinGen:CA10644372C0265233 219000 Cryptophthalmos syndrome;
NM_207361.6(FREM2):c.135G>T (p.Pro45=)341640FREM2Uncertain significancers886050186RCV000335661; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052133926161639261616GT13:g.39261616G>TClinGen:CA10644390C0265233 219000 Cryptophthalmos syndrome;
NM_207361.6(FREM2):c.576G>A (p.Glu192=)341640FREM2Benignrs1868464RCV000250281|RCV000347448|RCV001094138|RCV001683149|RCV001701927; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MONDO:MONDO:0054738,MedGen:C4540036,OMIM:617666|MedGen:CN517202|MONDO:MONDO:0007410,MedGen:C1852453,OMIM:123570, Orphanet:91396133926205739262057GA13:g.39262057G>AClinGen:CA6954237C0265233 219000 Cryptophthalmos syndrome;
NM_207361.6(FREM2):c.2233= (p.Pro745=)341640FREM2Benignrs2496423RCV000173610|RCV000357309|RCV001094162|RCV002054052; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MONDO:MONDO:0054738,MedGen:C4540036,OMIM:617666|MedGen:CN517202133926371439263714TC13:g.39263714T>CClinGen:CA200643C0265233 219000 Cryptophthalmos syndrome;
NM_207361.6(FREM2):c.2250C>T (p.Asp750=)341640FREM2Benignrs41292755RCV000173611|RCV000405344|RCV001094163|RCV002054053; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MONDO:MONDO:0054738,MedGen:C4540036,OMIM:617666|MedGen:CN517202133926373139263731CT13:g.39263731C>TClinGen:CA200645C0265233 219000 Cryptophthalmos syndrome;
NM_207361.6(FREM2):c.3209T>C (p.Phe1070Ser)341640FREM2Benign/Likely benignrs2496425RCV000173599|RCV000380412|RCV001094147|RCV001701776|RCV001618326; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MONDO:MONDO:0054738,MedGen:C4540036,OMIM:617666|MONDO:MONDO:0007410,MedGen:C1852453,OMIM:123570, Orphanet:91396|MedGen:CN517202133926469039264690TC13:g.39264690T>CClinGen:CA200635C0265233 219000 Cryptophthalmos syndrome;
NM_207361.6(FREM2):c.5503G>A (p.Ala1835Thr)341640FREM2Uncertain significancers767743882RCV000662066|RCV000662065; NMONDO:MONDO:0054738,MedGen:C4540036,OMIM:617666|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052133934380739343807GA13:g.39343807G>A-C0265233 219000 Cryptophthalmos syndrome;
NM_207361.6(FREM2):c.6350_6351del (p.Thr2117fs)341640FREM2Likely pathogenicrs752032044RCV000826108; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052133942277639422777CCAC13:g.39422776_39422777del-
NM_207361.6(FREM2):c.6977C>T (p.Thr2326Ile)341640FREM2Benignrs9548509RCV000241670|RCV000369162|RCV001094086|RCV001610764|RCV001701832; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MONDO:MONDO:0054738,MedGen:C4540036,OMIM:617666|MedGen:CN517202|MONDO:MONDO:0007410,MedGen:C1852453,OMIM:123570, Orphanet:91396133943031439430314CTNC_000013.10:g.39430314C>TClinGen:CA6955734C0265233 219000 Cryptophthalmos syndrome;
NM_207361.6(FREM2):c.7520-5del341640FREM2Benign/Likely benignrs36084034RCV000289348|RCV002056383; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202133943555339435553CTCNC_000013.10:g.39435563delClinGen:CA6955897C0265233 219000 Cryptophthalmos syndrome;
NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile)341640FREM2Benign/Likely benignrs116099212RCV000176440|RCV000224494|RCV000989101|RCV001110834; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MONDO:MONDO:0054738,MedGen:C4540036,OMIM:617666133945301039453010GA13:g.39453010G>AClinGen:CA201942CN517202 not provided;
NM_207361.6(FREM2):c.*1666_*1667del341640FREM2Uncertain significancers534520921RCV000386617; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052133945659039456591CTGCNC_000013.10:g.39456590_39456591delClinGen:CA10643435C0265233 219000 Cryptophthalmos syndrome;
NM_207361.6(FREM2):c.*1897CCTTT[3]341640FREM2Uncertain significancers886050201RCV000390064; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052133945682039456821CCCCTTT13:g.39456820_39456821insCCTTTClinGen:CA10639512C0265233 219000 Cryptophthalmos syndrome;
NM_207361.6(FREM2):c.*2390_*2392del341640FREM2Likely benignrs149897768RCV000312459; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052133945731439457316CAGAC13:g.39457314_39457316delClinGen:CA10644453C0265233 219000 Cryptophthalmos syndrome;
NM_207361.6(FREM2):c.*2458G>C341640FREM2Uncertain significancers886050203RCV000277222; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052133945738239457382GC13:g.39457382G>CClinGen:CA10634319C0265233 219000 Cryptophthalmos syndrome;
NM_207361.6(FREM2):c.*3718A>G341640FREM2Uncertain significancers886050208RCV000335797; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052133945864239458642AGNC_000013.10:g.39458642A>GClinGen:CA10644458C0265233 219000 Cryptophthalmos syndrome;
NM_207361.6(FREM2):c.*5530TTG[1]341640FREM2Uncertain significancers886050212RCV000374822; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052133946045339460455AGTTANC_000013.10:g.39460454TTG[1]ClinGen:CA10639531C0265233 219000 Cryptophthalmos syndrome;
NM_207361.6(FREM2):c.*5552CA[6]341640FREM2Uncertain significancers886050213RCV000348299; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052133946047539460476TACTNC_000013.10:g.39460476CA[6]ClinGen:CA10634354C0265233 219000 Cryptophthalmos syndrome;
NM_207361.6(FREM2):c.*5552C>T341640FREM2Uncertain significancers886050214RCV000401610; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052133946047639460476CTNC_000013.10:g.39460476C>TClinGen:CA10644469C0265233 219000 Cryptophthalmos syndrome;
NM_207361.6(FREM2):c.*5590TA[6]341640FREM2Uncertain significancers34936389RCV000345748; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052133946051239460513CCATNC_000013.10:g.39460514TA[6]ClinGen:CA10644478C0265233 219000 Cryptophthalmos syndrome;
NM_207361.6(FREM2):c.*5600GA[7]341640FREM2Uncertain significancers5802960RCV000267139; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052133946052239460523TTAG13:g.39460522_39460523insAGClinGen:CA10639534C0265233 219000 Cryptophthalmos syndrome;
NM_207361.6(FREM2):c.*5615_*5616insG341640FREM2Uncertain significancers886050216RCV000296053; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052133946053939460540AAGNC_000013.10:g.39460539_39460540insGClinGen:CA10644481C0265233 219000 Cryptophthalmos syndrome;
NM_207361.6(FREM2):c.*5627del341640FREM2Benignrs5802961RCV000385673; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052133946054039460540ATA13:g.39460540_39460540delClinGen:CA10644483C0265233 219000 Cryptophthalmos syndrome;
NM_207361.6(FREM2):c.*5870del341640FREM2Uncertain significancers886050220RCV000347531; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052133946079239460792TCT13:g.39460792_39460792delClinGen:CA10643460C0265233 219000 Cryptophthalmos syndrome;
NM_207361.6(FREM2):c.*6148_*6151del341640FREM2Uncertain significancers886050221RCV000401046; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052133946107239461075ACATTA13:g.39461072_39461075delClinGen:CA10634355C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.*1559dup23426GRIP1Uncertain significancers886049786RCV000292149; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052126674123966741240TTANC_000012.11:g.66741243dupClinGen:CA10638413C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.*1548_*1551dup23426GRIP1Uncertain significancers886049787RCV000349520; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052126674124766741248CCTGTTNC_000012.11:g.66741249_66741252dupClinGen:CA10633491C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.*1524_*1527del23426GRIP1Likely benignrs148261691RCV000373835; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052126674127266741275TTTTATNC_000012.11:g.66741275_66741278delClinGen:CA10638414C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.*1495_*1497dup23426GRIP1Uncertain significancers553937765RCV000281731; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052126674130166741302AAATTNC_000012.11:g.66741302_66741304dupClinGen:CA10633492C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.*1422_*1426del23426GRIP1Uncertain significancers886049788RCV000334443; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052126674137366741377ATACTTANC_000012.11:g.66741376_66741380delClinGen:CA10642355C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.*1388_*1390dup23426GRIP1Uncertain significancers886049789RCV000390700; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052126674140866741409AAAATNC_000012.11:g.66741410_66741412dupClinGen:CA10643223C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.*1299_*1301dup23426GRIP1Likely benignrs200995788RCV000397406; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052126674149766741498GGTGANC_000012.11:g.66741499_66741501dupClinGen:CA10638416C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.*1261dup23426GRIP1Conflicting interpretations of pathogenicityrs35499444RCV000366384; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052126674153766741538AATNC_000012.11:g.66741547dupClinGen:CA10638425C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.*1261del23426GRIP1Benignrs35499444RCV000308024; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052126674153866741538ATANC_000012.11:g.66741547delClinGen:CA10638424C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.*752TAT[3]23426GRIP1Uncertain significancers148302164RCV000262519; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052126674204166742042GGATANC_000012.11:g.66742042ATA[3]ClinGen:CA10643229C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.*753_*757del23426GRIP1Uncertain significancers886049793RCV000319962; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052126674204266742046GATAATGNC_000012.11:g.66742046_66742050delClinGen:CA10638435C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.*735_*738dup23426GRIP1Uncertain significancers551666983RCV000372545; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052126674206066742061AATGTTNC_000012.11:g.66742062_66742065dupClinGen:CA10633494C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.*723_*725dup23426GRIP1Uncertain significancers886049794RCV000280372; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052126674207366742074AACTCNC_000012.11:g.66742074_66742076dupClinGen:CA10642362C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.*695_*697dup23426GRIP1Likely benignrs201977256RCV000380569; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052126674210166742102CCTATNC_000012.11:g.66742104_66742106dupClinGen:CA10643233C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.*679dup23426GRIP1Uncertain significancers367709432RCV000282787; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052126674211966742120TTANC_000012.11:g.66742129dupClinGen:CA10633495C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.*655_*657dup23426GRIP1Likely benignrs138816960RCV000340093; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052126674214166742142AACATNC_000012.11:g.66742142_66742144dupClinGen:CA10642363C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.*647_*650dup23426GRIP1Likely benignrs200677568RCV000404098; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052126674214866742149CCTGTTNC_000012.11:g.66742151_66742154dupClinGen:CA10638437C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.*85_*87dup23426GRIP1Uncertain significancers553542220RCV000355925; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052126674271166742712TTATC12:g.66742711_66742712insATCClinGen:CA10643237C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.2464+15T>C23426GRIP1Benignrs7970076RCV000252195|RCV000290142|RCV001094207|RCV001597023; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MONDO:MONDO:0054739,MedGen:C4540040,OMIM:617667|MedGen:CN517202126678607366786073AG12:g.66786073A>GClinGen:CA6674124C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.2461C>G (p.Gln821Glu)23426GRIP1Benignrs13277RCV000247437|RCV000328734|RCV001094208|RCV001683102; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MONDO:MONDO:0054739,MedGen:C4540040,OMIM:617667|MedGen:CN517202126678609166786091GC12:g.66786091G>CClinGen:CA6674128C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.2361G>A (p.Lys787=)23426GRIP1Uncertain significancers886049797RCV000380986; NMONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052126678619166786191CT12:g.66786191C>TClinGen:CA10633500C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.1838+13G>T23426GRIP1Benignrs7397862RCV000244279|RCV000351116|RCV001094088|RCV002058308; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MONDO:MONDO:0054739,MedGen:C4540040,OMIM:617667|MedGen:CN517202126681448766814487CA12:g.66814487C>AClinGen:CA6674274C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.1355-10_1355-8del23426GRIP1Benign/Likely benignrs148083271RCV000174157|RCV000334394|RCV000965245; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MedGen:CN517202126683929666839298GAACG12:g.66839296_66839298delClinGen:CA200851C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.724+10G>A23426GRIP1Benignrs12316942RCV000249539|RCV000264282|RCV001094175|RCV002058309; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MONDO:MONDO:0054739,MedGen:C4540040,OMIM:617667|MedGen:CN517202126690938966909389CT12:g.66909389C>TClinGen:CA6674563C0265233 219000 Cryptophthalmos syndrome;
NM_001366722.1(GRIP1):c.503-15C>A23426GRIP1Benignrs11838180RCV000244788|RCV000273033|RCV001094212|RCV001610722; NMedGen:CN169374|MONDO:MONDO:0054737,MedGen:C4551480,OMIM:219000, Orphanet:2052|MONDO:MONDO:0054739,MedGen:C4540040,OMIM:617667|MedGen:CN517202126691177166911771GT12:g.66911771G>TClinGen:CA6674612C0265233 219000 Cryptophthalmos syndrome;
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