MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Abnormalities, Multiple (D000015)
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Bone Diseases, Developmental (D001848)
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Facies (D019066)
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Intellectual Disability (D008607)
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Tooth Abnormalities (D014071)
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KBG syndrome (C537015)

       Child Nodes:



 Sister Nodes: 
..expandAckerman syndrome (C538170)
..expandAnodontia (D000848) Child29
..expandAREDYLD Syndrome (C537427)
..expandBlepharo-cheilo-dontic syndrome (C536188)
..expandBook Syndrome (C562993)
..expandCarabelli Anomaly of Maxillary Molar Teeth (C566175)
..expandCleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only (C563974)
..expandCODAS syndrome (C536434)
..expandCRANIOSYNOSTOSIS AND DENTAL ANOMALIES (OMIM:614188)
..expandDeafness, Congenital, and Onychodystrophy, Autosomal Dominant (C567274)
..expandDeafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia (C565195)
..expandDens in Dente (D003719) Child1
..expandDental Enamel Hypoplasia (D003744) Child29
..expandDentin Dysplasia (D003805) Child3
..expandDentinogenesis Imperfecta (D003811) Child7
..expandDermoodontodysplasia (C565103)
..expandDiastema (D003970) Child1
..expandEuhidrotic ectodermal dysplasia (C535763)
..expandFacial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification (C567039)
..expandFaciocardiomelic Dysplasia, Lethal (C565578)
..expandFused Teeth (D005671)
..expandGrubben de Cock Borghgraef syndrome (C537621)
..expandHypoglossia-Hypodactylia (C566308)
..expandIridogoniodysgenesis, dominant type (C535536)
..expandKallmann Syndrome 2 with Selective Tooth Agenesis (C566948)
..expandKBG syndrome (C537015)
..expandLacrimoauriculodentodigital syndrome (C538132)
..expandLarsen syndrome, dominant type (C537873)
..expandNance-Horan syndrome (C538336)
..expandOculodentodigital Dysplasia (C563160)
..expandOculodentodigital Dysplasia, Autosomal Recessive (C567605)
..expandOculotrichodysplasia (C564934)
..expandOdontodysplasia (D018126) Child3
..expandOdontomicronychial dysplasia (C537741)
..expandOdontotrichoungual-Digital-Palmar Syndrome (C566598)
..expandOroacral Syndrome, Verloes-Koulischer Type (C566374)
..expandOtodental Dysplasia (C563482)
..expandPolydactyly, Postaxial, with Dental and Vertebral Anomalies (C564880)
..expandRodrigues blindness (C535865)
..expandSpondyloepimetaphyseal Dysplasia With Abnormal Dentition (C566644)
..expandTaurodontism (C536946)
..expandTaurodontism, microdontia, and dens invaginatus (C536947)
..expandTeeth noneruption of with maxillary hypoplasia and genu valgum (C536952)
..expandTeeth, Odd Shapes Of (C566076)
..expandTemtamy preaxial brachydactyly syndrome (C536958)
..expandTOOTH AGENESIS, SELECTIVE, 7 (OMIM:616724)
..expandTOOTH AGENESIS, SELECTIVE, 8 (OMIM:617073)
..expandTOOTH AGENESIS, SELECTIVE, 9 (OMIM:617275)
..expandTooth, Supernumerary (D014096) Child3
..expandTricho-dento-osseous syndrome 1 (C536550)
..expandTRICHODENTOOSSEOUS SYNDROME (OMIM:190320)
..expandWeyers acrofacial dysostosis (C536695)
..expandZazam Sheriff Phillips syndrome (C536723)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:6614
Name:KBG syndrome
Definition:
Alternative IDs:DO:DOID:14780|OMIM:148050
ParentIDs:MESH:D000015|MESH:D001848|MESH:D008607|MESH:D014071|MESH:D019066
TreeNumbers:C05.116.099/C537015 |C07.650.800/C537015 |C07.793.700/C537015 |C10.597.606.360/C537015 |C16.131.077/C537015 |C16.131.850.800/C537015 |C23.550.291.812/C537015 |C23.888.592.604.646/C537015 |F03.625.539/C537015
Synonyms:KBGS |MACRODONTIA, MENTAL RETARDATION, CHARACTERISTIC FACIES, SHORT STATURE, AND SKELETAL ANOMALIES |Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies
Slim Mappings:Congenital abnormality|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Pathology (process)|Signs and symptoms
Reference: MedGen: C537015
MeSH: C537015
OMIM: 148050;
MSeqDR LSDB:  
Genes: ANKRD11;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000463Anteverted nares
3 HP:0000891Cervical ribs
4 HP:0030084Clinodactyly
5 HP:0000028Cryptorchidism
6 HP:0002750Delayed skeletal maturation
7 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
8 HP:0001263Global developmental delay
NAMDC:  Mental retardation
9 HP:0000316Hypertelorism
10 HP:0001249Intellectual disability
11 HP:0000637Long palpebral fissure
12 HP:0000343Long philtrum
13 HP:0000294Low anterior hairline
14 HP:0002162Low posterior hairline
15 HP:0001572Macrodontia
16 HP:0000400Macrotia
17 HP:0000252Microcephaly
18 HP:0000677Oligodontia
19 HP:0009466Radial deviation of finger
20 HP:0000902Rib fusion
21 HP:0000311Round face
22 HP:0001250Seizures
NAMDC:  Seizures
HP:0040283
23 HP:0004322Short stature
NAMDC:  Short stature (patient¡¯s height is below the 3rd percentile)
24 HP:0000954Single transverse palmar crease
25 HP:0001159Syndactyly
26 HP:0000506Telecanthus
27 HP:0000574Thick eyebrow
28 HP:0002942Thoracic kyphosis
29 HP:0000325Triangular face
30 HP:0000430Underdeveloped nasal alae
31 HP:0008438Vertebral arch anomaly
32 HP:0002948Vertebral fusion
33 HP:0001566Widely-spaced maxillary central incisors
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000016.10:g.(?_89268458)_(89317039_?)del29123ANKRD11Pathogenic-1RCV000708207; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168933486689383447nana-
NC_000016.10:g.(?_89268458)_(89288690_?)del29123ANKRD11Pathogenic-1RCV000708517; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168933486689355098nana-
NM_013275.6(ANKRD11):c.7944C>A (p.Tyr2648Ter)29123ANKRD11Likely pathogenic-1RCV001261291; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168933493489334934GT16:g.89334934G>T-
NM_013275.6(ANKRD11):c.7839C>G (p.Ala2613=)29123ANKRD11Benign/Likely benignrs143287644RCV000719992|RCV000951729; NMONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168933503989335039GC16:g.89335039G>C-
NM_013275.6(ANKRD11):c.7807-5C>T29123ANKRD11Likely benignrs776041550RCV000865078; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168933507689335076GA16:g.89335076G>A-
NM_013275.6(ANKRD11):c.7801A>C (p.Met2601Leu)29123ANKRD11Likely benignrs767216450RCV000872747; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168933723089337230TG16:g.89337230T>G-
NM_013275.6(ANKRD11):c.7789A>T (p.Lys2597Ter)29123ANKRD11Uncertain significance-1RCV001265429; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168933724289337242TA16:g.89337242T>A-
NM_013275.6(ANKRD11):c.7758del (p.Gln2586fs)29123ANKRD11Uncertain significance-1RCV001216561; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168933727389337273ACA16:g.89337273_89337273del-
NM_013275.6(ANKRD11):c.7751C>A (p.Ala2584Asp)29123ANKRD11Likely pathogenicrs1555521799RCV000498680; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168933728089337280GT16:g.89337280G>TClinGen:CA397146575C0220687 148050 KBG syndrome;
NM_013275.6(ANKRD11):c.7735C>T (p.Arg2579Cys)29123ANKRD11Uncertain significancers1567537413RCV000761965|RCV000820125; NMedGen:CN517202|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168933729689337296GA16:g.89337296G>A-
NM_013275.6(ANKRD11):c.7713+10G>A29123ANKRD11Likely benignrs201416489RCV000944927; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934121289341212CT16:g.89341212C>T-
NM_013275.6(ANKRD11):c.7713+8C>T29123ANKRD11Likely benignrs200599560RCV000877690; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934121489341214GA16:g.89341214G>A-
NM_013275.6(ANKRD11):c.7683C>T (p.Ser2561=)29123ANKRD11Likely benignrs781285799RCV000945738; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934125289341252GA16:g.89341252G>A-
NM_013275.6(ANKRD11):c.7618C>T (p.Arg2540Trp)29123ANKRD11Uncertain significancers1555523386RCV000595302|RCV000765318; NMedGen:CN517202|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934131789341317GA16:g.89341317G>AClinGen:CA397147655CN169374 not specified;
NM_013275.6(ANKRD11):c.7571A>G (p.Glu2524Gly)29123ANKRD11Pathogenic-1RCV001031010; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934136489341364TC16:g.89341364T>C-
NM_013275.6(ANKRD11):c.7570-1G>C29123ANKRD11Pathogenicrs863223319RCV000023875; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934136689341366CG16:g.89341366C>GClinGen:CA278904,OMIM:611192.0001C0220687 148050 KBG syndrome;
NM_013275.6(ANKRD11):c.7569+1G>A29123ANKRD11Pathogenicrs797044890RCV000190712|RCV000335440|RCV001265123; NMeSH:D030342,MedGen:C0950123|MedGen:CN517202|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934150089341500CT16:g.89341500C>TClinGen:CA204700C0950123 Inborn genetic diseases;
NM_013275.6(ANKRD11):c.7564G>A (p.Glu2522Lys)29123ANKRD11Likely pathogenic-1RCV001261290; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934150689341506CT16:g.89341506C>T-
NM_013275.6(ANKRD11):c.7535G>A (p.Arg2512Gln)29123ANKRD11Pathogenic/Likely pathogenic-1RCV001199356|RCV001268505; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332|MedGen:CN517202168934153589341535CT16:g.89341535C>T-
NM_013275.6(ANKRD11):c.7494G>A (p.Ala2498=)29123ANKRD11Uncertain significance-1RCV001230361; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934157689341576CT16:g.89341576C>T-
NM_013275.6(ANKRD11):c.7311_7314dup (p.Phe2439fs)29123ANKRD11Pathogenic-1RCV001261289; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934563589345636AAGTAG16:g.89345635_89345636insGTAG-
NM_013275.6(ANKRD11):c.7111G>T (p.Ala2371Ser)29123ANKRD11Uncertain significance-1RCV001069182; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934583989345839CA16:g.89345839C>A-
NM_013275.6(ANKRD11):c.7103_7106del (p.Arg2368fs)29123ANKRD11Pathogenic-1RCV001251664; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934584489345847GGCCCG16:g.89345844_89345847del-
NM_013275.6(ANKRD11):c.7095G>A (p.Pro2365=)29123ANKRD11Uncertain significancers1343429737RCV000701555; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934585589345855CT16:g.89345855C>T-
NM_013275.6(ANKRD11):c.6985G>A (p.Val2329Met)29123ANKRD11Uncertain significance-1RCV001213507; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934596589345965CT16:g.89345965C>T-
NM_013275.6(ANKRD11):c.6982dup (p.Arg2328fs)29123ANKRD11Pathogenic/Likely pathogenicrs1555525088RCV000522776|RCV001223320|RCV001249518; NMedGen:CN517202|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:000168934596789345968CCG16:g.89345967_89345968insGClinGen:CA658658515
NM_013275.6(ANKRD11):c.6978C>T (p.Ala2326=)29123ANKRD11Likely benignrs558301893RCV000877065; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934597289345972GA16:g.89345972G>A-
NM_013275.6(ANKRD11):c.6968_6975dup (p.Ala2326fs)29123ANKRD11Pathogenic-1RCV001249676; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934597489345975CCCTTCGGGG16:g.89345974_89345975insCTTCGGGG-
NM_013275.6(ANKRD11):c.6968_6975del (p.Ala2323fs)29123ANKRD11Pathogenicrs1555525115RCV000658333|RCV000691327; NMedGen:CN517202|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934597589345982CCTTCGGGGC16:g.89345975_89345982del-
NM_013275.6(ANKRD11):c.6959C>A (p.Thr2320Lys)29123ANKRD11Uncertain significance-1RCV001219097; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934599189345991GT16:g.89345991G>T-
NM_013275.6(ANKRD11):c.6924C>T (p.Gly2308=)29123ANKRD11Benign/Likely benignrs146575027RCV000716482|RCV000870820; NMONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934602689346026GA16:g.89346026G>A-
NM_013275.6(ANKRD11):c.6919C>T (p.Pro2307Ser)29123ANKRD11Conflicting interpretations of pathogenicityrs575642464RCV000625153|RCV000626913|RCV000710575|RCV000719886; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332|Human Phenotype Ontology:HP:0000754,Human Phenotype Ontology:HP:0001255,Human Phenotype Ontology:HP:0001263,Human Phenotype Ontology:HP:0001277,Human Phenotype Ontology:HP:0001292,Human Pheno168934603189346031GA16:g.89346031G>AClinGen:CA286509669
NM_013275.6(ANKRD11):c.6847C>T (p.Gln2283Ter)29123ANKRD11Pathogenicrs1221781038RCV000509301|RCV000624386; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332|MeSH:D030342,MedGen:C0950123168934610389346103GA16:g.89346103G>AClinGen:CA397149854
NM_013275.6(ANKRD11):c.6827C>T (p.Pro2276Leu)29123ANKRD11Benignrs573355746RCV000865079; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934612389346123GA16:g.89346123G>A-
NM_013275.6(ANKRD11):c.6826C>T (p.Pro2276Ser)29123ANKRD11Benign/Likely benignrs201957371RCV000718784|RCV000872029|RCV001088985; NMONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106|MedGen:CN517202|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934612489346124GA16:g.89346124G>A-
NM_013275.6(ANKRD11):c.6805_6806TG[1] (p.Ala2270fs)29123ANKRD11Pathogenicrs1597435393RCV000995490; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934614289346143GCAG16:g.89346142_89346143del-
NM_013275.6(ANKRD11):c.6792del (p.Ala2265fs)29123ANKRD11Pathogenicrs878855327RCV000234805; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934615889346158CGC16:g.89346158_89346158delClinGen:CA10583990C0220687 148050 KBG syndrome;
NM_013275.6(ANKRD11):c.6786_6787insA (p.Pro2263fs)29123ANKRD11Pathogenicrs1135401815RCV000496121; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934616389346164GGT16:g.89346163_89346164insTClinGen:CA645373063C0220687 148050 KBG syndrome;
NM_013275.6(ANKRD11):c.6745C>T (p.Arg2249Cys)29123ANKRD11Benign/Likely benignrs202081612RCV000514386|RCV000718237|RCV001082874; NMedGen:CN517202|MONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934620589346205GA16:g.89346205G>AClinGen:CA8241348
NM_013275.6(ANKRD11):c.6742C>T (p.Gln2248Ter)29123ANKRD11Pathogenicrs1597435896RCV000851508; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934620889346208GA16:g.89346208G>A-
NM_013275.6(ANKRD11):c.6730G>A (p.Val2244Ile)29123ANKRD11Benign/Likely benignrs200852197RCV000875522|RCV001085268; NMedGen:CN517202|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934622089346220CT16:g.89346220C>T-
NM_013275.6(ANKRD11):c.6670G>T (p.Glu2224Ter)29123ANKRD11Pathogenicrs1381957912RCV000503738; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934628089346280CA16:g.89346280C>AClinGen:CA397150251
NM_013275.6(ANKRD11):c.6622T>G (p.Ser2208Ala)29123ANKRD11Benign-1RCV001034330; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934632889346328AC16:g.89346328A>C-
NM_013275.6(ANKRD11):c.6597C>G (p.Leu2199=)29123ANKRD11Benign/Likely benignrs762643863RCV000945378|RCV001080697; NMedGen:CN517202|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934635389346353GC16:g.89346353G>C-
NM_013275.6(ANKRD11):c.6581A>G (p.Gln2194Arg)29123ANKRD11not providedrs1364705691RCV000509546; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934636989346369TC16:g.89346369T>CClinGen:CA397150495C0220687 148050 KBG syndrome;
NM_013275.6(ANKRD11):c.6580C>G (p.Gln2194Glu)29123ANKRD11Conflicting interpretations of pathogenicityrs201589586RCV000710567|RCV000719919|RCV000810332; NMedGen:CN517202|MONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934637089346370GC16:g.89346370G>C-
NM_013275.6(ANKRD11):c.6571C>T (p.Pro2191Ser)29123ANKRD11Uncertain significance-1RCV001037777; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934637989346379GA16:g.89346379G>A-
NM_013275.6(ANKRD11):c.6560C>T (p.Pro2187Leu)29123ANKRD11Likely benignrs202216051RCV000876950; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934639089346390GA16:g.89346390G>A-
NM_013275.6(ANKRD11):c.6560C>G (p.Pro2187Arg)29123ANKRD11Uncertain significance-1RCV001198859; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934639089346390GC16:g.89346390G>C-
NM_013275.6(ANKRD11):c.6497T>G (p.Met2166Arg)29123ANKRD11Benignrs74033733RCV000717111|RCV000870604; NMONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934645389346453AC16:g.89346453A>C-
NM_013275.6(ANKRD11):c.6472G>T (p.Glu2158Ter)29123ANKRD11Pathogenicrs869312713RCV000209927; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934647889346478CA16:g.89346478C>AClinGen:CA353445C0220687 148050 KBG syndrome;
NM_013275.6(ANKRD11):c.6469del (p.Glu2157fs)29123ANKRD11Likely pathogenic-1RCV001253007|RCV001255363; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Pheno168934648189346481TCT16:g.89346481_89346481del-
NM_013275.6(ANKRD11):c.6436A>G (p.Lys2146Glu)29123ANKRD11Uncertain significancers1283976400RCV000818820; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934651489346514TC16:g.89346514T>C-
NM_013275.6(ANKRD11):c.6366C>T (p.Asp2122=)29123ANKRD11Likely benignrs202049186RCV000715732|RCV000870855; NMONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934658489346584GA16:g.89346584G>A-
NM_013275.6(ANKRD11):c.6261C>T (p.Ala2087=)29123ANKRD11Likely benignrs370993869RCV000951014; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934668989346689GA16:g.89346689G>A-
NM_013275.6(ANKRD11):c.6221A>C (p.Glu2074Ala)29123ANKRD11Likely benignrs201401760RCV000877957; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934672989346729TG16:g.89346729T>G-
NM_013275.6(ANKRD11):c.6212C>G (p.Ser2071Ter)29123ANKRD11Pathogenicrs763407068RCV000417107; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934673889346738GC16:g.89346738G>CClinGen:CA16044381C0220687 148050 KBG syndrome;
NM_013275.6(ANKRD11):c.6210_6211del (p.Lys2070fs)29123ANKRD11Pathogenicrs863225257RCV000201845; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934673989346740GACG16:g.89346739_89346740delClinGen:CA279569,OMIM:611192.0004C0220687 148050 KBG syndrome;
NM_013275.6(ANKRD11):c.6197_6198delinsAA (p.Phe2066Ter)29123ANKRD11Pathogenicrs1555525977RCV000554773; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934675289346753GATTNC_000016.9:g.89346752_89346753delinsTTClinGen:CA658658517C0220687 148050 KBG syndrome;
NM_013275.6(ANKRD11):c.6193T>C (p.Phe2065Leu)29123ANKRD11Likely benignrs200351209RCV000877958; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934675789346757AG16:g.89346757A>G-
NM_013275.6(ANKRD11):c.6140C>G (p.Ala2047Gly)29123ANKRD11Likely benignrs199691161RCV000710565|RCV000719451|RCV001078903; NMedGen:CN517202|MONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934681089346810GC16:g.89346810G>C-
NM_013275.6(ANKRD11):c.6112_6132del (p.Lys2038_Val2044del)29123ANKRD11Uncertain significancers748553966RCV000660598; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934681889346838GGACGGCGTCCACTCCGTCCTTG16:g.89346818_89346838del-C0220687 148050 KBG syndrome;
NM_013275.6(ANKRD11):c.6130G>A (p.Val2044Ile)29123ANKRD11Uncertain significance-1RCV001232466; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934682089346820CT16:g.89346820C>T-
NM_013275.6(ANKRD11):c.6111C>G (p.Val2037=)29123ANKRD11Benignrs376468392RCV000877959; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934683989346839GC16:g.89346839G>C-
NM_013275.6(ANKRD11):c.6106G>A (p.Asp2036Asn)29123ANKRD11Benign/Likely benignrs201636725RCV000435253|RCV000717467|RCV001088930; NMedGen:CN517202|MONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934684489346844CT16:g.89346844C>TClinGen:CA8241587
NM_013275.6(ANKRD11):c.6085G>A (p.Val2029Ile)29123ANKRD11Benignrs199785661RCV000983851; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934686589346865CT16:g.89346865C>T-
NM_013275.6(ANKRD11):c.6084C>T (p.Pro2028=)29123ANKRD11Benignrs189297725RCV000710564|RCV000717218|RCV001083445; NMedGen:CN517202|MONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934686689346866GA16:g.89346866G>A-
NM_013275.6(ANKRD11):c.6083C>T (p.Pro2028Leu)29123ANKRD11Uncertain significancers1387729666RCV000815241; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934686789346867GA16:g.89346867G>A-
NM_013275.6(ANKRD11):c.6065C>T (p.Pro2022Leu)29123ANKRD11Likely benignrs373218212RCV000719246|RCV000875069|RCV001252406; NMONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Onto168934688589346885GA16:g.89346885G>A-
NM_013275.6(ANKRD11):c.6052_6060del (p.Pro2018_Ala2020del)29123ANKRD11Uncertain significancers775221712RCV000785126; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934689089346898AGGCGGGAGGA16:g.89346890_89346898del-
NM_013275.6(ANKRD11):c.6015dup (p.Gly2006fs)29123ANKRD11Pathogenicrs879253753RCV000234963; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934693489346935CCT16:g.89346934_89346935insTClinGen:CA10584038C0220687 148050 KBG syndrome;
NM_013275.6(ANKRD11):c.5951_5952CA[1] (p.Gln1985fs)29123ANKRD11Pathogenicrs863223321RCV000023877; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934699689346997CTGC16:g.89346996_89346997delClinGen:CA278906,OMIM:611192.0003C0220687 148050 KBG syndrome;
NM_013275.6(ANKRD11):c.5916C>T (p.Ser1972=)29123ANKRD11Likely benignrs1025761111RCV000719319|RCV000871102; NMONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934703489347034GA16:g.89347034G>A-
NM_013275.6(ANKRD11):c.5865del (p.Glu1955fs)29123ANKRD11Likely pathogenic-1RCV001197169; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934708589347085GCG16:g.89347085_89347085del-
NM_013275.6(ANKRD11):c.5859del (p.Ser1954fs)29123ANKRD11Pathogenic-1RCV001220653; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934709189347091AGA16:g.89347091_89347091del-
NM_013275.6(ANKRD11):c.5833G>T (p.Glu1945Ter)29123ANKRD11Pathogenic-1RCV001233188; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934711789347117CA16:g.89347117C>A-
NM_013275.6(ANKRD11):c.5786G>A (p.Ser1929Asn)29123ANKRD11Uncertain significancers1191174024RCV000808546; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934716489347164CT16:g.89347164C>T-
NM_013275.6(ANKRD11):c.5777dup (p.Glu1927fs)29123ANKRD11Pathogenic/Likely pathogenicrs1597443966RCV001008924|RCV001230594; NMedGen:CN517202|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934717289347173CCG16:g.89347172_89347173insG-
NM_013275.6(ANKRD11):c.5738C>A (p.Thr1913Asn)29123ANKRD11Benign/Likely benignrs142373563RCV000710562|RCV001089218; NMedGen:CN517202|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934721289347212GT16:g.89347212G>T-
NM_013275.6(ANKRD11):c.5694G>T (p.Leu1898=)29123ANKRD11Likely benignrs771476134RCV000877699; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934725689347256CA16:g.89347256C>A-
NM_013275.6(ANKRD11):c.5688C>G (p.Ala1896=)29123ANKRD11Likely benignrs775035859RCV000951206; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934726289347262GC16:g.89347262G>C-
NM_013275.6(ANKRD11):c.5682dup (p.Arg1895fs)29123ANKRD11Pathogenicrs1163944246RCV000815068; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934726789347268TTG16:g.89347267_89347268insG-
NM_013275.6(ANKRD11):c.5665A>G (p.Lys1889Glu)29123ANKRD11Benignrs202034147RCV000718798|RCV000877134; NMONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934728589347285TC16:g.89347285T>C-
NM_013275.6(ANKRD11):c.5661A>G (p.Gln1887=)29123ANKRD11Benignrs147726863RCV000193420|RCV000872096; NMedGen:CN169374|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934728989347289TC16:g.89347289T>CClinGen:CA206897
NM_013275.6(ANKRD11):c.5629C>T (p.Pro1877Ser)29123ANKRD11Likely benignrs142527333RCV000710561|RCV000719444|RCV001078571; NMedGen:CN517202|MONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934732189347321GA16:g.89347321G>A-
NM_013275.6(ANKRD11):c.5625C>T (p.Val1875=)29123ANKRD11Benign/Likely benignrs201082380RCV000715427|RCV000877247; NMONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934732589347325GA16:g.89347325G>A-
NM_013275.6(ANKRD11):c.5586C>T (p.Val1862=)29123ANKRD11Benignrs772818159RCV000946256; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934736489347364GA16:g.89347364G>A-
NM_013275.6(ANKRD11):c.5578C>T (p.Pro1860Ser)29123ANKRD11Likely benignrs144516367RCV000717935|RCV000950973; NMONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934737289347372GA16:g.89347372G>A-
NM_013275.6(ANKRD11):c.5509C>T (p.Pro1837Ser)29123ANKRD11Benignrs145906515RCV000719512|RCV000864899|RCV001085144; NMONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106|MedGen:CN517202|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934744189347441GA16:g.89347441G>A-
NM_013275.6(ANKRD11):c.5504del (p.Leu1835fs)29123ANKRD11Pathogenicrs1057519399RCV000417088; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934744689347446CAC16:g.89347446_89347446delClinGen:CA16044382C0220687 148050 KBG syndrome;
NM_013275.6(ANKRD11):c.5438_5439insT (p.Gln1813fs)29123ANKRD11Pathogenic-1RCV001263000; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934751189347512CCA16:g.89347511_89347512insA-
NM_013275.6(ANKRD11):c.5413G>A (p.Val1805Ile)29123ANKRD11Benign/Likely benignrs151288302RCV000876760|RCV001086606; NMedGen:CN517202|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934753789347537CT16:g.89347537C>T-
NM_013275.6(ANKRD11):c.5380G>A (p.Asp1794Asn)29123ANKRD11Uncertain significance-1RCV001236485; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934757089347570CT16:g.89347570C>T-
NM_013275.6(ANKRD11):c.5351C>T (p.Ser1784Phe)29123ANKRD11Uncertain significancers751323481RCV000818790; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934759989347599GA16:g.89347599G>A-
NM_013275.6(ANKRD11):c.5338G>A (p.Ala1780Thr)29123ANKRD11Benignrs75362060RCV000710560|RCV000717489|RCV001080008; NMedGen:CN517202|MONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934761289347612CT16:g.89347612C>TClinGen:CA8241872
NM_013275.6(ANKRD11):c.5316G>A (p.Ser1772=)29123ANKRD11Uncertain significance-1RCV001039687; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934763489347634CT16:g.89347634C>T-
NM_013275.6(ANKRD11):c.5315C>T (p.Ser1772Leu)29123ANKRD11Uncertain significance-1RCV001053696; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934763589347635GA16:g.89347635G>A-
NM_013275.6(ANKRD11):c.5285A>G (p.Asp1762Gly)29123ANKRD11Uncertain significance-1RCV001253363; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934766589347665TC16:g.89347665T>C-
NM_013275.6(ANKRD11):c.5274C>T (p.Pro1758=)29123ANKRD11Likely benignrs367764283RCV000909062; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934767689347676GA16:g.89347676G>A-
NM_013275.6(ANKRD11):c.5233_5234del (p.Ser1745fs)29123ANKRD11Pathogenic-1RCV001232880; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934771689347717GGAG16:g.89347716_89347717del-
NM_013275.6(ANKRD11):c.5211C>T (p.Phe1737=)29123ANKRD11Likely benignrs373155396RCV000924379; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934773989347739GA16:g.89347739G>A-
NM_013275.6(ANKRD11):c.5198C>T (p.Ala1733Val)29123ANKRD11Benignrs148243995RCV000517028|RCV000945521; NMedGen:CN169374|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934775289347752GA16:g.89347752G>AClinGen:CA8241912CN169374 not specified;
NM_013275.6(ANKRD11):c.5112C>A (p.Pro1704=)29123ANKRD11Likely benignrs141292414RCV000716990|RCV000876945; NMONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934783889347838GT16:g.89347838G>T-
NM_013275.6(ANKRD11):c.5088C>G (p.Asp1696Glu)29123ANKRD11Benign/Likely benignrs146205997RCV000514936|RCV001078825; NMedGen:CN517202|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934786289347862GC16:g.89347862G>CClinGen:CA8241955CN517202 not provided;
NM_013275.6(ANKRD11):c.5065del (p.Leu1689fs)29123ANKRD11Pathogenicrs1567566026RCV000679911; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934788589347885AGA16:g.89347885_89347885del-C0220687 148050 KBG syndrome;
NM_013275.6(ANKRD11):c.5053del (p.His1684_Met1685insTer)29123ANKRD11Likely pathogenicrs1555527341RCV000677662; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934789789347897ATA16:g.89347897_89347897del-
NM_013275.6(ANKRD11):c.4990G>A (p.Ala1664Thr)29123ANKRD11Uncertain significance-1RCV001218960; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934796089347960CT16:g.89347960C>T-
NM_013275.6(ANKRD11):c.4887C>T (p.Asp1629=)29123ANKRD11Likely benignrs780135094RCV000892236; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934806389348063GA16:g.89348063G>A-
NM_013275.6(ANKRD11):c.4884C>T (p.Asp1628=)29123ANKRD11Benignrs144721281RCV000954009; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934806689348066GA16:g.89348066G>A-
NM_013275.6(ANKRD11):c.4880C>T (p.Ala1627Val)29123ANKRD11Uncertain significance-1RCV001199266; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934807089348070GA16:g.89348070G>A-
NM_013275.6(ANKRD11):c.4872G>A (p.Ala1624=)29123ANKRD11Benign/Likely benignrs143426579RCV000517541|RCV000715528|RCV000865167; NMedGen:CN169374|MONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934807889348078CT16:g.89348078C>TClinGen:CA8242025CN169374 not specified;
NM_013275.6(ANKRD11):c.4786G>T (p.Glu1596Ter)29123ANKRD11Pathogenic-1RCV001261258; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934816489348164CA16:g.89348164C>A-
NM_013275.6(ANKRD11):c.4686C>T (p.Gly1562=)29123ANKRD11Uncertain significance-1RCV001241369; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934826489348264GA16:g.89348264G>A-
NM_013275.6(ANKRD11):c.4630G>A (p.Asp1544Asn)29123ANKRD11Uncertain significance-1RCV001037630; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934832089348320CT16:g.89348320C>T-
NM_013275.6(ANKRD11):c.4619A>G (p.Lys1540Arg)29123ANKRD11Benignrs145415643RCV000950967; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934833189348331TC16:g.89348331T>C-
NM_013275.6(ANKRD11):c.4609G>A (p.Gly1537Ser)29123ANKRD11Conflicting interpretations of pathogenicityrs1347006212RCV000547170|RCV000719338; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332|MONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106168934834189348341CT16:g.89348341C>TClinGen:CA397157201C0220687 148050 KBG syndrome;
NM_013275.6(ANKRD11):c.4475_4498del (p.1484_1491LLRHHRDE[1])29123ANKRD11Likely benignrs534329317RCV000952429; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934845289348475TGCTCGTCCCTGTGATGCCGCAGGAT16:g.89348452_89348475del-
NM_013275.6(ANKRD11):c.4440T>C (p.His1480=)29123ANKRD11Benign/Likely benignrs139429949RCV000716588|RCV000945471; NMONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934851089348510AG16:g.89348510A>G-
NM_013275.6(ANKRD11):c.4394A>G (p.His1465Arg)29123ANKRD11Uncertain significancers960634497RCV000693145; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934855689348556TC16:g.89348556T>C-
NM_013275.6(ANKRD11):c.4383_4384GA[3] (p.Lys1464fs)29123ANKRD11Pathogenicrs1597451815RCV001008838|RCV001261294|RCV001267490; NMedGen:CN517202|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332|MeSH:D030342,MedGen:C0950123168934856089348561TTCT16:g.89348560_89348561del-
NM_013275.6(ANKRD11):c.4381_4384del (p.Lys1461fs)29123ANKRD11Pathogenic-1RCV001253386; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934856689348569CTCTTC16:g.89348566_89348569del-
NM_013275.6(ANKRD11):c.4381_4382del (p.Lys1461fs)29123ANKRD11Likely pathogenic-1RCV001261257; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934856889348569CTTC16:g.89348568_89348569del-
NM_013275.6(ANKRD11):c.4317G>A (p.Lys1439=)29123ANKRD11Benign/Likely benignrs61743619RCV000718641|RCV000874943; NMONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934863389348633CT16:g.89348633C>T-
NM_013275.6(ANKRD11):c.4288A>T (p.Lys1430Ter)29123ANKRD11Likely pathogenicrs1555527929RCV000578293; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934866289348662TA16:g.89348662T>AClinGen:CA397157902C0220687 148050 KBG syndrome;
NM_013275.6(ANKRD11):c.4270del (p.Ser1424fs)29123ANKRD11Pathogenicrs1597452422RCV000856782; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934868089348680GAG16:g.89348680_89348680del-
NM_013275.6(ANKRD11):c.4236_4238AGA[1] (p.Glu1413del)29123ANKRD11Likely benignrs778347369RCV000878797; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934870989348711ATCTA16:g.89348709_89348711del-
NM_013275.6(ANKRD11):c.4237G>A (p.Glu1413Lys)29123ANKRD11Likely benignrs140373729RCV000513923|RCV000718885|RCV001089026; NMedGen:CN517202|MONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934871389348713CT16:g.89348713C>TClinGen:CA8242175
NM_013275.6(ANKRD11):c.4206C>G (p.Tyr1402Ter)29123ANKRD11Pathogenicrs749632782RCV000703231|RCV001249512; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Pheno168934874489348744GC16:g.89348744G>C-
NM_013275.6(ANKRD11):c.4149C>T (p.Gly1383=)29123ANKRD11Benign/Likely benignrs146025366RCV000717479|RCV000864639; NMONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934880189348801GA16:g.89348801G>A-
NM_013275.6(ANKRD11):c.4087C>T (p.Arg1363Ter)29123ANKRD11Pathogenicrs1364690005RCV000579355|RCV001261256; NMedGen:CN517202|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934886389348863GA16:g.89348863G>AClinGen:CA397158341CN517202 not provided;
NM_013275.6(ANKRD11):c.3977C>T (p.Thr1326Met)29123ANKRD11Likely benignrs144673419RCV000436122|RCV000719739|RCV001078483; NMedGen:CN517202|MONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934897389348973GA16:g.89348973G>AClinGen:CA8242237
NM_013275.6(ANKRD11):c.3969C>T (p.Val1323=)29123ANKRD11Likely benignrs201938879RCV000719199|RCV000964759; NMONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934898189348981GA16:g.89348981G>A-
NM_013275.6(ANKRD11):c.3948del (p.Gly1316_Leu1317insTer)29123ANKRD11Pathogenic-1RCV001249677; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934900289349002GCG16:g.89349002_89349002del-
NM_013275.6(ANKRD11):c.3933_3945del (p.Gly1312_Gln1313insTer)29123ANKRD11Pathogenic-1RCV001063720; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934900589349017CCGGCTCCTGCCCTC16:g.89349005_89349017del-
NM_013275.6(ANKRD11):c.3942G>T (p.Glu1314Asp)29123ANKRD11Uncertain significance-1RCV001213506; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934900889349008CA16:g.89349008C>A-
NM_013275.6(ANKRD11):c.3931C>T (p.Arg1311Ter)29123ANKRD11Likely pathogenic-1RCV001261255; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934901989349019GA16:g.89349019G>A-
NM_013275.6(ANKRD11):c.3927G>A (p.Thr1309=)29123ANKRD11Benignrs143428884RCV000873423; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934902389349023CT16:g.89349023C>T-
NM_013275.6(ANKRD11):c.3926C>T (p.Thr1309Met)29123ANKRD11Uncertain significancers779550492RCV001007898; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934902489349024GA16:g.89349024G>A-
NM_013275.6(ANKRD11):c.3836G>T (p.Ser1279Ile)29123ANKRD11Uncertain significance-1RCV001236484; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934911489349114CA16:g.89349114C>A-
NM_013275.6(ANKRD11):c.3770_3773del (p.Lys1257fs)29123ANKRD11Pathogenicrs1567571990RCV000679910; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934917789349180CTCTTC16:g.89349177_89349180del-C0220687 148050 KBG syndrome;
NM_013275.6(ANKRD11):c.3770_3771del (p.Lys1257fs)29123ANKRD11Pathogenic/Likely pathogenicrs886039477RCV000256105|RCV000622880|RCV000679885|RCV001257013; NMedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332|MedGen:CN283358, Orphanet:183757168934917989349180CTTC16:g.89349179_89349180delClinGen:CA10588633C0950123 Inborn genetic diseases;
NM_013275.6(ANKRD11):c.3708_3709del (p.Lys1237fs)29123ANKRD11Pathogenicrs1567572265RCV000684841; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934924189349242TTCT16:g.89349241_89349242del-
NM_013275.6(ANKRD11):c.3704_3707del (p.Lys1235fs)29123ANKRD11Pathogenicrs1555528354RCV000627445|RCV001261293; NMedGen:CN517202|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934924389349246CTGTTC16:g.89349243_89349246delClinGen:CA658790756
NM_013275.6(ANKRD11):c.3706C>T (p.Gln1236Ter)29123ANKRD11Likely pathogenicrs1555528356RCV000656734; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934924489349244GA16:g.89349244G>A-
NM_013275.6(ANKRD11):c.3660G>A (p.Arg1220=)29123ANKRD11Benign/Likely benignrs150015583RCV000710555|RCV000716081|RCV001083814; NMedGen:CN517202|MONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934929089349290CT16:g.89349290C>T-
NM_013275.6(ANKRD11):c.3632_3633del (p.Lys1211fs)29123ANKRD11Pathogenicrs1555528400RCV000500373; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934931789349318CTTC16:g.89349317_89349318delClinGen:CA645373065
NM_013275.6(ANKRD11):c.3621G>C (p.Glu1207Asp)29123ANKRD11Uncertain significance-1RCV001089974; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934932989349329CG16:g.89349329C>G-
NM_013275.6(ANKRD11):c.3578C>T (p.Ala1193Val)29123ANKRD11Benignrs61744864RCV000717091|RCV000878176; NMONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934937289349372GA16:g.89349372G>A-
NM_013275.6(ANKRD11):c.3562C>T (p.Arg1188Ter)29123ANKRD11Pathogenicrs761848111RCV000266509|RCV000578369; NMedGen:CN517202|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934938889349388GA16:g.89349388G>AClinGen:CA10603423C0220687 148050 KBG syndrome;
NM_013275.6(ANKRD11):c.3483C>T (p.Ser1161=)29123ANKRD11Benign/Likely benignrs150642594RCV000717793|RCV000873112; NMONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934946789349467GA16:g.89349467G>A-
NM_013275.6(ANKRD11):c.3467G>A (p.Arg1156Gln)29123ANKRD11Likely benign-1RCV001197512; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934948389349483CT16:g.89349483C>T-
NM_013275.6(ANKRD11):c.3431C>T (p.Pro1144Leu)29123ANKRD11Benignrs137894790RCV000872710; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934951989349519GA16:g.89349519G>A-
NM_013275.6(ANKRD11):c.3423C>T (p.Ser1141=)29123ANKRD11Benignrs142005632RCV000959483; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934952789349527GA16:g.89349527G>A-
NM_013275.6(ANKRD11):c.3367_3368del (p.Glu1122_Ser1123insTer)29123ANKRD11Pathogenic-1RCV001234403; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934958289349583ACTA16:g.89349582_89349583del-
NM_013275.6(ANKRD11):c.3363T>C (p.Asp1121=)29123ANKRD11Likely benignrs146897971RCV000945343; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934958789349587AG16:g.89349587A>G-
NM_013275.6(ANKRD11):c.3268del (p.Ala1090fs)29123ANKRD11Likely pathogenic-1RCV001270384; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934968289349682GCG16:g.89349682_89349682del-
NM_013275.6(ANKRD11):c.3220_3223AAAG[1] (p.Glu1075fs)29123ANKRD11Pathogenicrs1064794330RCV000487274|RCV000679909; NMedGen:CN517202|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934972389349726CCTTTC16:g.89349723_89349726delClinGen:CA16620307
NM_013275.6(ANKRD11):c.3219_3220del (p.Asp1073fs)29123ANKRD11Pathogenic-1RCV001039787; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934973089349731TTGT16:g.89349730_89349731del-
NM_013275.6(ANKRD11):c.3198_3199del (p.His1066fs)29123ANKRD11Pathogenic-1RCV000760178; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934975189349752TTAT16:g.89349751_89349752del-
NM_013275.6(ANKRD11):c.3162A>G (p.Lys1054=)29123ANKRD11Benignrs61729371RCV000439082|RCV000710553|RCV000715743|RCV001082383; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934978889349788TC16:g.89349788T>CClinGen:CA8242416CN169374 not specified;
NM_013275.6(ANKRD11):c.3122C>A (p.Ser1041Ter)29123ANKRD11Pathogenicrs1057518663RCV000414961; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934982889349828GT16:g.89349828G>TClinGen:CA16043692
NM_013275.6(ANKRD11):c.3084C>A (p.Tyr1028Ter)29123ANKRD11Pathogenic/Likely pathogenicrs1064793539RCV000479193|RCV000824827|RCV001249507; NMedGen:CN517202|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:000168934986689349866GT16:g.89349866G>TClinGen:CA16620308
NM_013275.6(ANKRD11):c.3066del (p.Thr1023fs)29123ANKRD11Pathogenic-1RCV001261253; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934988489349884TCT16:g.89349884_89349884del-
NM_013275.6(ANKRD11):c.3046G>A (p.Asp1016Asn)29123ANKRD11Uncertain significance-1RCV001248165; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934990489349904CT16:g.89349904C>T-
NM_013275.6(ANKRD11):c.3019C>T (p.Arg1007Ter)29123ANKRD11Pathogenic/Likely pathogenic-1RCV001090541|RCV001195875|RCV001266682; NMedGen:CN517202|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332|MeSH:D030342,MedGen:C0950123168934993189349931GA16:g.89349931G>A-
NM_013275.6(ANKRD11):c.3005G>A (p.Arg1002Gln)29123ANKRD11Conflicting interpretations of pathogenicityrs757870881RCV000715708|RCV000919649; NMONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168934994589349945CT16:g.89349945C>T-
NM_013275.6(ANKRD11):c.2824_2825AG[1] (p.Arg942fs)29123ANKRD11Pathogenicrs1597459077RCV000856769; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935012189350124ACTCTA16:g.89350121_89350124del-
NM_013275.6(ANKRD11):c.2751dup (p.Glu918Ter)29123ANKRD11Pathogenic-1RCV001261252; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935019889350199CCA16:g.89350198_89350199insA-
NM_013275.6(ANKRD11):c.2716C>T (p.Arg906Ter)29123ANKRD11Pathogenicrs929007085RCV000995491; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935023489350234GA16:g.89350234G>A-
NM_013275.6(ANKRD11):c.2707C>T (p.Pro903Ser)29123ANKRD11Uncertain significancers764784295RCV000805540; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935024389350243GA16:g.89350243G>A-
NM_013275.6(ANKRD11):c.2704G>T (p.Glu902Ter)29123ANKRD11Pathogenicrs1597459649RCV000995492|RCV001268876; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332|MedGen:CN517202168935024689350246CA16:g.89350246C>A-
NM_013275.6(ANKRD11):c.2695G>A (p.Asp899Asn)29123ANKRD11Likely benign-1RCV001034115; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935025589350255CT16:g.89350255C>T-
NM_013275.6(ANKRD11):c.2684G>A (p.Arg895Gln)29123ANKRD11Conflicting interpretations of pathogenicityrs199800166RCV000493061|RCV000696596|RCV000719966; NMedGen:CN517202|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332|MONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106168935026689350266CT16:g.89350266C>TClinGen:CA8242536C0220687 148050 KBG syndrome;
NM_013275.6(ANKRD11):c.2647G>T (p.Glu883Ter)29123ANKRD11Pathogenicrs1135401804RCV000496122; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935030389350303CA16:g.89350303C>AClinGen:CA397161845C0220687 148050 KBG syndrome;
NM_013275.6(ANKRD11):c.2618_2619del (p.Val873fs)29123ANKRD11Pathogenic-1RCV001251663; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935033189350332CCAC16:g.89350331_89350332del-
NM_013275.6(ANKRD11):c.2609_2612dup (p.Asp871fs)29123ANKRD11Likely pathogenicrs1597459998RCV001027966; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935033789350338GGTCGC16:g.89350337_89350338insTCGC-
NM_013275.6(ANKRD11):c.2536del (p.Ser846fs)29123ANKRD11Pathogenicrs1597460246RCV001008340|RCV001265430; NMedGen:CN517202|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935041489350414GAG16:g.89350414_89350414del-
NM_013275.6(ANKRD11):c.2454dup (p.Asn819Ter)29123ANKRD11Pathogenicrs1597460545RCV000800175; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935049589350496TTA16:g.89350495_89350496insA-
NM_013275.6(ANKRD11):c.2408_2412del (p.Lys803fs)29123ANKRD11Pathogenicrs886039902RCV000256444|RCV000522964; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332|MedGen:CN517202168935053889350542CTTTTTC16:g.89350538_89350542delClinGen:CA10588953
NM_013275.6(ANKRD11):c.2409_2412del (p.Glu805fs)29123ANKRD11Pathogenic/Likely pathogenicrs886039902RCV000489189|RCV000826156; NMedGen:CN517202|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935053889350541CTTTTC16:g.89350538_89350541delClinGen:CA645294092
NM_013275.6(ANKRD11):c.2404_2407del (p.Leu802fs)29123ANKRD11Pathogenicrs1555529181RCV000660535; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935054389350546TTGAGT16:g.89350543_89350546del-
NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800fs)29123ANKRD11Pathogenicrs797045027RCV000191060|RCV000255252|RCV001256986|RCV001266330; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332|MedGen:CN517202|MedGen:CN283358, Orphanet:183757|MeSH:D030342,MedGen:C0950123168935054989350552TTTTCT16:g.89350549_89350552delClinGen:CA250332C0220687 148050 KBG syndrome;
NM_013275.6(ANKRD11):c.2373G>A (p.Lys791=)29123ANKRD11Likely benignrs138267414RCV000502598|RCV000719135|RCV000953988; NMedGen:CN169374|MONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935057789350577CT16:g.89350577C>TClinGen:CA8242590
NM_013275.6(ANKRD11):c.2350G>T (p.Glu784Ter)29123ANKRD11Pathogenic-1RCV001261250; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935060089350600CA16:g.89350600C>A-
NM_013275.6(ANKRD11):c.2327T>G (p.Leu776Ter)29123ANKRD11Pathogenic/Likely pathogenicrs1597461100RCV000824865|RCV001090543; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332|MedGen:CN517202168935062389350623AC16:g.89350623A>C-
NM_013275.6(ANKRD11):c.2305del (p.Ser769fs)29123ANKRD11Pathogenicrs863223320RCV000023876; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935064589350645GAG16:g.89350645_89350645delClinGen:CA278905,OMIM:611192.0002
NM_013275.6(ANKRD11):c.2297_2300del (p.Lys766fs)29123ANKRD11Pathogenic/Likely pathogenic-1RCV001253405|RCV001255321; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Pheno168935065089350653CTTCTC16:g.89350650_89350653del-
NM_013275.6(ANKRD11):c.2299A>T (p.Lys767Ter)29123ANKRD11Pathogenic-1RCV001261249; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935065189350651TA16:g.89350651T>A-
NM_013275.6(ANKRD11):c.2292G>A (p.Glu764=)29123ANKRD11Benignrs149626938RCV000878039; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935065889350658CT16:g.89350658C>T-
NM_013275.6(ANKRD11):c.2273_2274del (p.Leu758fs)29123ANKRD11Pathogenicrs1597461334RCV000805065; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935067689350677TCAT16:g.89350676_89350677del-
NM_013275.6(ANKRD11):c.2240C>T (p.Ser747Leu)29123ANKRD11Benignrs138898373RCV000864434; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935071089350710GA16:g.89350710G>A-
NM_013275.6(ANKRD11):c.2197C>T (p.Arg733Ter)29123ANKRD11Pathogenic/Likely pathogenicrs886041791RCV000389598|RCV000455520|RCV000622829; NMedGen:CN517202|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332|MeSH:D030342,MedGen:C0950123168935075389350753GA16:g.89350753G>AClinGen:CA10603433C0950123 Inborn genetic diseases;
NM_013275.6(ANKRD11):c.2171_2174CAAA[1] (p.Asn725fs)29123ANKRD11Pathogenic/Likely pathogenicrs886039734RCV000255546|RCV000505196; NMedGen:CN517202|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935077289350775CTTTGC16:g.89350772_89350775delClinGen:CA10588634C0220687 148050 KBG syndrome;
NM_013275.6(ANKRD11):c.2092_2096del (p.Glu698fs)29123ANKRD11Likely pathogenic-1RCV001253544; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935085489350858TTTCTCT16:g.89350854_89350858del-
NM_013275.6(ANKRD11):c.2047_2048del (p.Lys683fs)29123ANKRD11Pathogenicrs1567579092RCV000679908; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935090289350903CTTC16:g.89350902_89350903del-C0220687 148050 KBG syndrome;
NM_013275.6(ANKRD11):c.2006A>C (p.Asp669Ala)29123ANKRD11Likely pathogenicrs1597462279RCV000850526; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935094489350944TG16:g.89350944T>G-
NM_013275.6(ANKRD11):c.1977C>G (p.Tyr659Ter)29123ANKRD11Pathogenic/Likely pathogenicrs749201074RCV000579343|RCV000763390; NMedGen:CN517202|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935097389350973GC16:g.89350973G>CClinGen:CA397163483CN517202 not provided;
NM_013275.6(ANKRD11):c.1977C>T (p.Tyr659=)29123ANKRD11Likely benignrs749201074RCV000981486; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935097389350973GA16:g.89350973G>A-
NM_013275.6(ANKRD11):c.1948C>T (p.Gln650Ter)29123ANKRD11Pathogenicrs1567579525RCV000679907; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935100289351002GA16:g.89351002G>A-C0220687 148050 KBG syndrome;
NM_013275.6(ANKRD11):c.1898_1902AAACA[1] (p.Lys635fs)29123ANKRD11Pathogenic/Likely pathogenicrs886041125RCV000406838|RCV000496332|RCV000624014|RCV000626912|RCV001003618|RCV001249513|RCV001256985; NMedGen:CN517202|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332|MeSH:D030342,MedGen:C0950123|8 conditions|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:168935104389351047GTGTTTG16:g.89351043_89351047delClinGen:CA10603358C1850049 Clinodactyly of the 5th finger;
NM_013275.6(ANKRD11):c.1896_1897del (p.His632fs)29123ANKRD11Pathogenic-1RCV001258348; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935105389351054TTAT16:g.89351053_89351054del-
NM_013275.6(ANKRD11):c.1851C>T (p.Gly617=)29123ANKRD11Benign/Likely benignrs144309427RCV000717998|RCV000874717; NMONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935109989351099GA16:g.89351099G>A-
NM_013275.6(ANKRD11):c.1844C>G (p.Ala615Gly)29123ANKRD11Benignrs115797011RCV000710547|RCV000717354|RCV001087248; NMedGen:CN517202|MONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935110689351106GC16:g.89351106G>C-
NM_013275.6(ANKRD11):c.1801C>T (p.Arg601Ter)29123ANKRD11Pathogenicrs772229371RCV000317010|RCV001251665; NMedGen:CN517202|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935114989351149GA16:g.89351149G>AClinGen:CA10603567CN517202 not provided;
NM_013275.6(ANKRD11):c.1800dup (p.Arg601fs)29123ANKRD11Pathogenic-1RCV001199192; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935114989351150GGC16:g.89351149_89351150insC-
NM_013275.6(ANKRD11):c.1679C>G (p.Ser560Ter)29123ANKRD11Pathogenicrs1555529551RCV000677406; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935127189351271GC16:g.89351271G>C-C0220687 148050 KBG syndrome;
NM_013275.6(ANKRD11):c.1621C>T (p.Gln541Ter)29123ANKRD11Pathogenicrs1156815415RCV000856742; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935132989351329GA16:g.89351329G>A-
NM_013275.6(ANKRD11):c.1540C>T (p.Leu514=)29123ANKRD11Likely benignrs367970933RCV000915928; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935141089351410GA16:g.89351410G>A-
NM_013275.6(ANKRD11):c.1458_1459AG[2] (p.Ser488fs)29123ANKRD11Pathogenicrs1555529645RCV000622622|RCV000679906; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935148789351488ACTA16:g.89351487_89351488delClinGen:CA658798667
NM_013275.6(ANKRD11):c.1413G>A (p.Lys471=)29123ANKRD11Likely benignrs145731868RCV000718390|RCV000952019; NMONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935153789351537CT16:g.89351537C>T-
NM_013275.6(ANKRD11):c.1385_1388del (p.Thr462fs)29123ANKRD11Pathogenic-1RCV001261248; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935156289351565TTTTGT16:g.89351562_89351565del-
NM_013275.6(ANKRD11):c.1373_1376GAAA[2] (p.Glu461fs)29123ANKRD11Pathogenic/Likely pathogenicrs1597464953RCV000782091|RCV001056651|RCV001266760; NMedGen:CN517202|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332|MeSH:D030342,MedGen:C0950123168935156689351569GTTTCG16:g.89351566_89351569del-
NM_013275.6(ANKRD11):c.1372C>T (p.Arg458Ter)29123ANKRD11Pathogenicrs900492387RCV000856736; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935157889351578GA16:g.89351578G>A-
NM_013275.6(ANKRD11):c.1296G>C (p.Thr432=)29123ANKRD11Benignrs74033734RCV000517804|RCV000715968|RCV000864300; NMedGen:CN169374|MONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935165489351654CG16:g.89351654C>GClinGen:CA8242810CN169374 not specified;
NM_013275.6(ANKRD11):c.1245C>T (p.Asp415=)29123ANKRD11Benignrs79499872RCV000717837|RCV000870670; NMONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935170589351705GA16:g.89351705G>A-
NM_013275.6(ANKRD11):c.1080G>A (p.Pro360=)29123ANKRD11Likely benignrs144902113RCV000952542; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935187089351870CT16:g.89351870C>T-
NM_013275.6(ANKRD11):c.977del (p.Gly326fs)29123ANKRD11Likely pathogenicrs1555529979RCV000656397|RCV001268382; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332|MedGen:CN517202168935197389351973GCG16:g.89351973_89351973del-
NM_013275.6(ANKRD11):c.894_916del (p.Glu298fs)29123ANKRD11Pathogenic-1RCV001261292; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935203489352056GGTGCGTCTTCCTCTTCTGAGCTCG16:g.89352034_89352056del-
NM_013275.6(ANKRD11):c.893-1G>C29123ANKRD11Pathogenicrs1567583835RCV000679913; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935205889352058CG16:g.89352058C>G-C0220687 148050 KBG syndrome;
NM_013275.6(ANKRD11):c.890C>T (p.Thr297Met)29123ANKRD11Benign/Likely benignrs140998225RCV000716891|RCV000872749; NMONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935244989352449GA16:g.89352449G>A-
NM_013275.6(ANKRD11):c.867C>A (p.Tyr289Ter)29123ANKRD11Pathogenicrs761636251RCV000679912|RCV001200610; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332|MedGen:CN517202168935247289352472GT16:g.89352472G>T-C0220687 148050 KBG syndrome;
NM_013275.6(ANKRD11):c.630C>G (p.Asn210Lys)29123ANKRD11Uncertain significance-1RCV001239405; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935505089355050GC16:g.89355050G>C-
NM_013275.6(ANKRD11):c.618del (p.His206fs)29123ANKRD11Pathogenicrs1597477691RCV000824978; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935506289355062CGC16:g.89355062_89355062del-
NM_013275.6(ANKRD11):c.601+7A>G29123ANKRD11Benignrs202074713RCV000872377; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935702689357026TC16:g.89357026T>C-
NM_013275.6(ANKRD11):c.541G>A (p.Ala181Thr)29123ANKRD11Likely benignrs777123332RCV000442181|RCV000625836; NMedGen:CN169374|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935709389357093CT16:g.89357093C>TClinGen:CA8243066C0220687 148050 KBG syndrome;
NM_013275.6(ANKRD11):c.372G>A (p.Thr124=)29123ANKRD11Benignrs34016116RCV000710556|RCV000717213|RCV001083351; NMedGen:CN517202|MONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935744689357446CT16:g.89357446C>T-
NM_013275.6(ANKRD11):c.324C>G (p.Gly108=)29123ANKRD11Uncertain significance-1RCV001198776; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935749489357494GC16:g.89357494G>C-
NM_013275.6(ANKRD11):c.306G>C (p.Leu102=)29123ANKRD11Benign/Likely benignrs150497848RCV000710552|RCV000719950|RCV001088135; NMedGen:CN517202|MONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935751289357512CG16:g.89357512C>G-
NM_013275.6(ANKRD11):c.301G>A (p.Gly101Arg)29123ANKRD11Likely benign-1RCV001198183; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935751789357517CT16:g.89357517C>T-
NM_013275.6(ANKRD11):c.282C>G (p.Ala94=)29123ANKRD11Likely benignrs139469151RCV000717036|RCV000873087; NMONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935753689357536GC16:g.89357536G>C-
NM_013275.6(ANKRD11):c.280G>C (p.Ala94Pro)29123ANKRD11Benignrs190143218RCV000716007|RCV000872106; NMONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935753889357538CG16:g.89357538C>G-
NM_013275.6(ANKRD11):c.275G>A (p.Arg92Gln)29123ANKRD11Benignrs143894223RCV000908905; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935754389357543CT16:g.89357543C>T-
NM_013275.6(ANKRD11):c.249del (p.Arg84fs)29123ANKRD11Pathogenic-1RCV001261251; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935756989357569TCT16:g.89357569_89357569del-
NM_013275.6(ANKRD11):c.227-3_227-2del29123ANKRD11Uncertain significance-1RCV001247769; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935759389357594CTGC16:g.89357593_89357594del-
NM_013275.6(ANKRD11):c.227-10C>T29123ANKRD11Benignrs201226457RCV000887491; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168935760189357601GA16:g.89357601G>A-
NM_013275.6(ANKRD11):c.160C>T (p.Arg54Ter)29123ANKRD11Pathogenicrs749607205RCV000657789|RCV001218595; NMedGen:CN517202|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168937168089371680GA16:g.89371680G>A-CN517202 not provided;
NM_013275.6(ANKRD11):c.116C>T (p.Thr39Ile)29123ANKRD11Uncertain significancers149152296RCV000797710; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168937172489371724GA16:g.89371724G>A-
NM_013275.6(ANKRD11):c.69G>A (p.Glu23=)29123ANKRD11Benignrs533051571RCV000950896; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168938335989383359CT16:g.89383359C>T-
NM_013275.6(ANKRD11):c.7180C>T (p.Gln2394Ter)-1ANKRD11;TRAPPC2LLikely pathogenicrs863225296RCV000201945|RCV000989659; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332|MONDO:MONDO:0032681,MedGen:C5193033,OMIM:618331168934577089345770GA16:g.89345770G>AClinGen:CA279648C0220687 148050 KBG syndrome;
NM_013275.6(ANKRD11):c.5632T>C (p.Ser1878Pro)-1ANKRD11;TRAPPC2LLikely benignrs143743958RCV000717476|RCV000876635|RCV000989660; NMONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332|MONDO:MONDO:0032681,MedGen:C5193033,OMIM:618331168934731889347318AG16:g.89347318A>G-
NM_013275.6(ANKRD11):c.136G>A (p.Asp46Asn)-1ANKRD11;TRAPPC2LLikely benignrs144947610RCV000710545|RCV000719452|RCV000989663|RCV001078902; NMedGen:CN517202|MONDO:MONDO:0005258,MedGen:C1510586,OMIM:PS209850, Orphanet:106|MONDO:MONDO:0032681,MedGen:C5193033,OMIM:618331|MONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332168937170489371704CT16:g.89371704C>T-
NM_012330.4(KAT6B):c.2408_2412del (p.Asn803fs)23522KAT6BPathogenic-1RCV000760264; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332107674487276744876AACCTTA10:g.76744872_76744876del-
NM_001080517.3(SETD5):c.2143C>T (p.Gln715Ter)55209SETD5Pathogenic-1RCV001261244; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332394901119490111CT3:g.9490111C>T-
NM_001080517.3(SETD5):c.2268del (p.Arg757fs)55209SETD5Pathogenic-1RCV001261242; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332394902359490235ATA3:g.9490235_9490235del-
NM_001379200.1(TBX1):c.652del (p.Gln218fs)6899TBX1Pathogenic-1RCV001261282; NMONDO:MONDO:0007846,MedGen:C0220687,OMIM:148050, Orphanet:2332221975179019751790GCG22:g.19751790_19751790del-
MSeqDR Portal