MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:7505
Name:McKusick Kaufman syndrome
Definition:
Alternative IDs:OMIM:236700
ParentIDs:MESH:D000015|MESH:D006330|MESH:D014591|MESH:D017689|MESH:D052202
TreeNumbers:C05.660.585.600/C538159 |C13.351.500.852/C538159 |C13.351.500.894.500/C538159 |C14.240.400/C538159 |C14.280.400/C538159 |C16.131.077/C538159 |C16.131.240.400/C538159 |C16.131.621.585.600/C538159
Synonyms:HMCS |Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation |Hydrometrocolpos syndrome |Kaufman-Mckusick Syndrome |Kaufman McKusick syndrome |Mckusick-Kaufman Syndrome |MKKS
Slim Mappings:Cardiovascular disease|Congenital abnormality|Musculoskeletal disease|Urogenital disease (female)
Reference: MedGen: C538159
MeSH: C538159
OMIM: 236700;
MSeqDR LSDB:  
Genes: MKKS;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0030680Abnormality of cardiovascular system morphology
3 HP:0002251Aganglionic megacolon
4 HP:0002023Anal atresia
5 HP:0001374Congenital hip dislocation
6 HP:0000028Cryptorchidism
7 HP:0000969Edema
8 HP:0010741Edema of the lower limbs
9 HP:0030010Hydrometrocolpos
10 HP:0000126Hydronephrosis
11 HP:0000072Hydroureter
12 HP:0006159Mesoaxial hand polydactyly
13 HP:0000113Polycystic kidney dysplasia
14 HP:0001162Postaxial hand polydactyly
15 HP:0002089Pulmonary hypoplasia
16 HP:0000143Rectovaginal fistula
17 HP:0001159Syndactyly
18 HP:0000145Transverse vaginal septum
19 HP:0000148Vaginal atresia
20 HP:0001586Vesicovaginal fistula
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_018848.3(MKKS):c.*460T>C8195MKKSUncertain significancers886056496RCV000293443|RCV000385684; NMONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201038543510385435AG20:g.10385435A>GClinGen:CA10643468C0752166 Bardet-Biedl syndrome;
NM_018848.3(MKKS):c.*435G>A8195MKKSBenignrs6108549RCV000350666|RCV000388837; NMONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201038546010385460CT20:g.10385460C>TClinGen:CA10649325C0752166 Bardet-Biedl syndrome;
NM_018848.3(MKKS):c.*392T>C8195MKKSBenignrs2294901RCV000287490|RCV000344980; NMONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473|MONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110201038550310385503AG20:g.10385503A>GClinGen:CA10649326C0752166 Bardet-Biedl syndrome;
NM_170784.3(MKKS):c.*112C>T8195MKKSUncertain significance-1RCV001140576|RCV001140577; NMONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201038578310385783GA20:g.10385783G>A-
NM_170784.3(MKKS):c.*103A>G8195MKKSUncertain significance-1RCV001140578|RCV001140579; NMONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201038579210385792TC20:g.10385792T>C-
NM_018848.3(MKKS):c.*46G>T8195MKKSBenign/Likely benignrs74703166RCV000245522|RCV000291235|RCV000407504; NMedGen:CN169374|MONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201038584910385849CA20:g.10385849C>AClinGen:CA9763428
NM_018848.3(MKKS):c.*38A>G8195MKKSBenign/Likely benignrs79940214RCV000253524|RCV000339174|RCV000407401; NMedGen:CN169374|MONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201038585710385857TC20:g.10385857T>CClinGen:CA9763430
NM_018848.3(MKKS):c.*21A>G8195MKKSUncertain significancers532973454RCV000306005|RCV000353841; NMONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473|MONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110201038587410385874TC20:g.10385874T>CClinGen:CA9763432C0752166 Bardet-Biedl syndrome;
NC_000020.11:g.(?_10405227)_(10413534_?)del8195MKKSPathogenic-1RCV000708480; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110; MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201038587510394182nana-C0752166 Bardet-Biedl syndrome;
NM_018848.3(MKKS):c.1702G>C (p.Asp568His)8195MKKSUncertain significancers886056497RCV000299897|RCV000404351; NMONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201038590610385906CG20:g.10385906C>GClinGen:CA10649331C0752166 Bardet-Biedl syndrome;
NM_170784.3(MKKS):c.1682A>T (p.Asp561Val)8195MKKSUncertain significance-1RCV001209088; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110; MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201038592610385926TA20:g.10385926T>A-
NM_170784.3(MKKS):c.1670A>G (p.Asn557Ser)8195MKKSUncertain significance-1RCV001142432|RCV001142433; NMONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201038593810385938TC20:g.10385938T>C-
NM_018848.3(MKKS):c.1654G>A (p.Ala552Thr)8195MKKSUncertain significancers532487848RCV000793349; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110; MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201038595410385954CT20:g.10385954C>T-
NM_170784.3(MKKS):c.1645C>T (p.Leu549=)8195MKKSUncertain significance-1RCV001142434|RCV001142435; NMONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201038596310385963GA20:g.10385963G>A-
NM_170784.3(MKKS):c.1598C>T (p.Ser533Leu)8195MKKSUncertain significance-1RCV001137685|RCV001137686; NMONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473|MONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110201038601010386010GA20:g.10386010G>A-
NM_018848.3(MKKS):c.1595G>T (p.Gly532Val)8195MKKSBenignrs1545RCV000081972|RCV000273938|RCV000357044|RCV000860330; NMedGen:CN169374|MONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110; MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700,Orp201038601310386013CA20:g.10386013C>AClinGen:CA149046,UniProtKB:Q9NPJ1#VAR_009869C0752166 Bardet-Biedl syndrome;
NM_018848.3(MKKS):c.1553G>A (p.Arg518His)8195MKKSConflicting interpretations of pathogenicityrs149051148RCV000782192|RCV000990283|RCV001087733|RCV001137687; NMedGen:CN517202|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110; MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473|MONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231,Or201038605510386055CT20:g.10386055C>TClinGen:CA338007,UniProtKB:Q9NPJ1#VAR_017039
NM_018848.3(MKKS):c.1549C>T (p.Arg517Cys)8195MKKSBenignrs1547RCV000081971|RCV000331388|RCV000370207|RCV000860331; NMedGen:CN169374|MONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110; MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700,Orp201038605910386059GA20:g.10386059G>AClinGen:CA149043,UniProtKB:Q9NPJ1#VAR_009868C0752166 Bardet-Biedl syndrome;
NM_018848.3(MKKS):c.1474G>A (p.Asp492Asn)8195MKKSUncertain significancers142327258RCV000513875|RCV000765483|RCV001139907|RCV001139908|RCV001219232; NMedGen:CN517202|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473; MONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110|MONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700,Orpha201038613410386134CT20:g.10386134C>TClinGen:CA223542,UniProtKB:Q9NPJ1#VAR_038903CN517202 not provided;
NM_170784.3(MKKS):c.1474G>C (p.Asp492His)8195MKKSUncertain significance-1RCV001056869; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110; MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201038613410386134CG20:g.10386134C>G-
NM_018848.3(MKKS):c.1462G>A (p.Ala488Thr)8195MKKSBenign/Likely benignrs61734546RCV000245802|RCV000277938|RCV000326048|RCV000528510; NMedGen:CN169374|MONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110; MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700,Orp201038614610386146CT20:g.10386146C>TUniProtKB:Q9NPJ1#VAR_066265,ClinGen:CA9763469C0752166 Bardet-Biedl syndrome;
NM_018848.3(MKKS):c.1372G>T (p.Val458Phe)8195MKKSUncertain significancers1600843195RCV000804083; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110; MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201038623610386236CA20:g.10386236C>A-
NM_170784.3(MKKS):c.1363G>A (p.Glu455Lys)8195MKKSUncertain significance-1RCV001056555|RCV001139909|RCV001139910; NMONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473; MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201038624510386245CT20:g.10386245C>T-
NM_170784.2(MKKS):c.1334T>G (p.Leu445Ter)8195MKKSPathogenicrs1057516054RCV000408846; NMONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201038627410386274AC20:g.10386274A>CClinGen:CA10654836C0948368 236700 McKusick Kaufman syndrome;
NM_170784.3(MKKS):c.1318C>G (p.Gln440Glu)8195MKKSUncertain significance-1RCV001236334; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110; MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201038629010386290GC20:g.10386290G>C-
NM_170784.3(MKKS):c.1307A>T (p.Asp436Val)8195MKKSUncertain significance-1RCV001139911|RCV001139912; NMONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201038630110386301TA20:g.10386301T>A-
NM_170784.3(MKKS):c.1307A>G (p.Asp436Gly)8195MKKSUncertain significance-1RCV001140679|RCV001140680; NMONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473|MONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110201038630110386301TC20:g.10386301T>C-
NM_170784.3(MKKS):c.1294A>T (p.Ile432Phe)8195MKKSUncertain significance-1RCV001238705; NMONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473; MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110201038631410386314TA20:g.10386314T>A-
NM_018848.3(MKKS):c.1282G>A (p.Asp428Asn)8195MKKSUncertain significancers779416496RCV000290691|RCV000382953|RCV001237953; NMONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110; MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201038632610386326CT20:g.10386326C>TClinGen:CA9763502C0752166 Bardet-Biedl syndrome;
NM_170784.3(MKKS):c.1280A>G (p.Asn427Ser)8195MKKSUncertain significance-1RCV001238283; NMONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473; MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110201038632810386328TC20:g.10386328T>C-
NM_170784.3(MKKS):c.1272+6T>C8195MKKSUncertain significance-1RCV001071375; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110; MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201038825810388258AG20:g.10388258A>G-
NM_018848.3(MKKS):c.1269C>T (p.His423=)8195MKKSUncertain significancers144313303RCV000329365|RCV000376996; NMONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473|MONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110201038826710388267GA20:g.10388267G>AClinGen:CA9763520C0752166 Bardet-Biedl syndrome;
NM_170784.3(MKKS):c.1259A>G (p.Tyr420Cys)8195MKKSUncertain significance-1RCV001214297; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110; MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201038827710388277TC20:g.10388277T>C-
NM_018848.3(MKKS):c.1225_1226del (p.Gly409fs)8195MKKSPathogenicrs1421664374RCV000005635; NMONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201038831010388311TCCT20:g.10388310_10388311delOMIM:604896.0004C0948368 236700 McKusick Kaufman syndrome;
NM_018848.3(MKKS):c.1161+4G>A8195MKKSUncertain significancers761886025RCV000593873|RCV001222609; NMedGen:CN517202|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473; MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110201038927210389272CT20:g.10389272C>TClinGen:CA9763553CN169374 not specified;
NM_170784.3(MKKS):c.1161+3A>G8195MKKSUncertain significance-1RCV001066770; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110; MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201038927310389273TC20:g.10389273T>C-
NM_170784.3(MKKS):c.1129A>G (p.Asn377Asp)8195MKKSUncertain significance-1RCV001240224; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110; MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201038930810389308TC20:g.10389308T>C-
NM_170784.3(MKKS):c.1111T>A (p.Cys371Ser)8195MKKSUncertain significance-1RCV001039666; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110; MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201038932610389326AT20:g.10389326A>T-
NM_170784.3(MKKS):c.1098T>A (p.Asn366Lys)8195MKKSUncertain significance-1RCV001232108; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110; MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201038933910389339AT20:g.10389339A>T-
NM_170784.3(MKKS):c.1088T>C (p.Leu363Pro)8195MKKSUncertain significance-1RCV001246454; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110; MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201038934910389349AG20:g.10389349A>G-
NM_170784.3(MKKS):c.1057G>A (p.Ala353Thr)8195MKKSUncertain significance-1RCV001140681|RCV001140682; NMONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473|MONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110201038938010389380CT20:g.10389380C>T-
NM_018848.3(MKKS):c.1015A>G (p.Ile339Val)8195MKKSConflicting interpretations of pathogenicityrs137853909RCV000086969|RCV000173033|RCV000585746|RCV000677321|RCV001083442; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473|MONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110; MONDO:MONDO:0009367,MedGen:C0948368201038942210389422TC20:g.10389422T>CClinGen:CA200249,UniProtKB:Q9NPJ1#VAR_017041C0752166 Bardet-Biedl syndrome;
NM_018848.3(MKKS):c.986-29A>T8195MKKSBenignrs764266RCV000248022|RCV000990284; NMedGen:CN169374|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201038948010389480TA20:g.10389480T>AClinGen:CA9763585CN169374 not specified;
NM_170784.3(MKKS):c.926G>A (p.Arg309His)8195MKKSUncertain significance-1RCV001067388; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110; MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201039323710393237CT20:g.10393237C>T-
NM_018848.3(MKKS):c.874C>T (p.Leu292=)8195MKKSConflicting interpretations of pathogenicityrs758645426RCV000284972|RCV000341367|RCV000865892; NMONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473|MONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110|MedGen:CN517202201039328910393289GA20:g.10393289G>AClinGen:CA9763609C0752166 Bardet-Biedl syndrome;
NM_170784.3(MKKS):c.871G>A (p.Val291Ile)8195MKKSUncertain significance-1RCV001244292; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110; MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201039329210393292CT20:g.10393292C>T-
NM_170784.3(MKKS):c.803T>G (p.Leu268Arg)8195MKKSUncertain significance-1RCV001045009; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110; MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201039336010393360AC20:g.10393360A>C-
NM_170784.3(MKKS):c.796G>T (p.Val266Phe)8195MKKSUncertain significance-1RCV001045658; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110; MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201039336710393367CA20:g.10393367C>A-
NM_170784.3(MKKS):c.764C>T (p.Thr255Ile)8195MKKSUncertain significance-1RCV001241569; NMONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473; MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110201039339910393399GA20:g.10393399G>A-
NM_018848.3(MKKS):c.757T>C (p.Ser253Pro)8195MKKSConflicting interpretations of pathogenicityrs201785599RCV000530180|RCV001081965|RCV001142558|RCV001142559; NMedGen:CN517202|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473; MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473|MONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231,Or201039340610393406AG20:g.10393406A>GClinGen:CA9763633C0752166 Bardet-Biedl syndrome;
NM_170784.3(MKKS):c.751G>C (p.Asp251His)8195MKKSUncertain significance-1RCV001207573; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110; MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201039341210393412CG20:g.10393412C>G-
NM_018848.3(MKKS):c.749G>A (p.Gly250Glu)8195MKKSUncertain significancers972466774RCV000804082; NMONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473; MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110201039341410393414CT20:g.10393414C>T-
NM_170784.3(MKKS):c.748G>A (p.Gly250Arg)8195MKKSUncertain significance-1RCV001236723; NMONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473; MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110201039341510393415CT20:g.10393415C>T-
NM_018848.3(MKKS):c.724G>T (p.Ala242Ser)8195MKKSConflicting interpretations of pathogenicityrs74315394RCV000153503|RCV000436285|RCV000990285|RCV001084541; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110; MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201039343910393439CA20:g.10393439C>AClinVar:448914,ClinGen:CA090940,UniProtKB:Q9NPJ1#VAR_009867,OMIM:604896.0001C0752166 Bardet-Biedl syndrome;
NM_170784.3(MKKS):c.709A>G (p.Thr237Ala)8195MKKSUncertain significance-1RCV001066721; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110; MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201039345410393454TC20:g.10393454T>C-
NM_170784.3(MKKS):c.699C>G (p.Ile233Met)8195MKKSUncertain significance-1RCV001209208; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110; MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201039346410393464GC20:g.10393464G>C-
NM_018848.3(MKKS):c.697A>C (p.Ile233Leu)8195MKKSUncertain significancers141201812RCV000638613; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110; MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201039346610393466TG20:g.10393466T>GClinGen:CA9763642
NM_018848.3(MKKS):c.638C>G (p.Thr213Ser)8195MKKSUncertain significancers780570415RCV000227998; NMONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473; MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110201039352510393525GC20:g.10393525G>CClinGen:CA9763651C0752166 Bardet-Biedl syndrome;
NM_170784.3(MKKS):c.629T>C (p.Ile210Thr)8195MKKSUncertain significance-1RCV001245333; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110; MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201039353410393534AG20:g.10393534A>G-
NM_170784.3(MKKS):c.538A>G (p.Arg180Gly)8195MKKSUncertain significance-1RCV001064722; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110; MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201039362510393625TC20:g.10393625T>C-
NM_018848.3(MKKS):c.534C>T (p.Ile178=)8195MKKSBenignrs17852625RCV000020861|RCV000132694|RCV000177309|RCV000392530|RCV001082554|RCV001094636; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473; MONDO:MONDO:0015229,MedGen:C075216201039362910393629GA20:g.10393629G>AClinGen:CA202398C0752166 Bardet-Biedl syndrome;
NM_018848.3(MKKS):c.463C>T (p.Arg155Cys)8195MKKSUncertain significancers755050269RCV000335481|RCV000391079; NMONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201039370010393700GA20:g.10393700G>AClinGen:CA9763677C0752166 Bardet-Biedl syndrome;
NM_170784.3(MKKS):c.432_435del (p.Phe144fs)8195MKKSPathogenic-1RCV001233877; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110; MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201039372810393731TACTAT20:g.10393728_10393731del-
NM_018848.3(MKKS):c.433_434del (p.Phe144_Ser145insTer)8195MKKSPathogenicrs764382536RCV000990286; NMONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201039372910393730ACTA20:g.10393729_10393730del-
NM_018848.3(MKKS):c.429_430del (p.Asp143_Phe144insTer)8195MKKSPathogenicrs762222223RCV000990287; NMONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201039373310393734AAGA20:g.10393733_10393734del-
NM_018848.3(MKKS):c.425T>C (p.Val142Ala)8195MKKSUncertain significancers863224773RCV000196621; NMONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473; MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110201039373810393738AG20:g.10393738A>GClinGen:CA336572C0752166 Bardet-Biedl syndrome;
NM_018848.3(MKKS):c.416G>A (p.Arg139Gln)8195MKKSBenign/Likely benignrs145045986RCV000541102|RCV001137798|RCV001137799; NMONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473; MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473|MONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110201039374710393747CT20:g.10393747C>TClinGen:CA9763690C0752166 Bardet-Biedl syndrome;
NM_170784.3(MKKS):c.409G>A (p.Gly137Ser)8195MKKSUncertain significance-1RCV001054337; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110; MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201039375410393754CT20:g.10393754C>T-
NM_170784.3(MKKS):c.380del (p.Cys127fs)8195MKKSPathogenic-1RCV001209091; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110; MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201039378310393783GCG20:g.10393783_10393783del-
NM_170784.3(MKKS):c.364C>T (p.His122Tyr)8195MKKSUncertain significance-1RCV001035488; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110; MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201039379910393799GA20:g.10393799G>A-
NM_170784.3(MKKS):c.329G>T (p.Gly110Val)8195MKKSUncertain significance-1RCV001137800|RCV001137801; NMONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473|MONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110201039383410393834CA20:g.10393834C>A-
NM_170784.3(MKKS):c.311A>G (p.Glu104Gly)8195MKKSUncertain significance-1RCV001053467; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110; MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201039385210393852TC20:g.10393852T>C-
NM_018848.3(MKKS):c.231G>A (p.Leu77=)8195MKKSLikely benignrs373913834RCV000862878; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110; MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201039393210393932CT20:g.10393932C>T-
NM_170784.3(MKKS):c.180C>T (p.Ser60=)8195MKKSUncertain significance-1RCV001137802|RCV001140039; NMONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201039398310393983GA20:g.10393983G>A-
NM_018848.3(MKKS):c.172_175dup (p.Gln59fs)8195MKKSPathogenicrs1600849412RCV000795896; NMONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473; MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110201039398710393988TTGTGA20:g.10393987_10393988insGTGA-
NM_170784.3(MKKS):c.175C>T (p.Gln59Ter)8195MKKSPathogenic-1RCV001247809; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110; MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201039398810393988GA20:g.10393988G>A-
NM_018848.3(MKKS):c.169A>G (p.Thr57Ala)8195MKKSPathogenicrs74315399RCV000005641|RCV000990288; NMONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201039399410393994TC20:g.10393994T>CClinGen:CA253464,UniProtKB:Q9NPJ1#VAR_009883,OMIM:604896.0010C1858054 605231 Bardet-Biedl syndrome 6;
NM_170784.3(MKKS):c.121G>C (p.Gly41Arg)8195MKKSUncertain significance-1RCV001043465; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110; MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201039404210394042CG20:g.10394042C>G-
NM_018848.3(MKKS):c.117C>T (p.Pro39=)8195MKKSBenignrs16991547RCV000020859|RCV000132693|RCV000177308|RCV000367016|RCV001083510|RCV001094689; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473; MONDO:MONDO:0015229,MedGen:C075216201039404610394046GA20:g.10394046G>AClinGen:CA202395C0752166 Bardet-Biedl syndrome;
NM_018848.3(MKKS):c.110A>G (p.Tyr37Cys)8195MKKSPathogenicrs74315396RCV000005633|RCV000005634|RCV000144678|RCV000724561|RCV000763444|RCV000824067|RCV001075509|RCV001267323; NMONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473|MONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110|MedGen:C4016908|MedGen:CN517202|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473; MONDO:MONDO:0011523,MedGen:C1858054,201039405310394053TC20:g.10394053T>CClinGen:CA170910,UniProtKB:Q9NPJ1#VAR_009864,OMIM:604896.0003C4016908 Bardet-biedl syndrome 2/6, digenic;
NM_018848.3(MKKS):c.82G>C (p.Val28Leu)8195MKKSUncertain significancers368653529RCV000313518|RCV000402588; NMONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473|MONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110201039408110394081CG20:g.10394081C>GClinGen:CA9763746C0752166 Bardet-Biedl syndrome;
NM_018848.3(MKKS):c.67A>G (p.Arg23Gly)8195MKKSConflicting interpretations of pathogenicityrs147545395RCV000596293|RCV000862389|RCV001140040|RCV001140041; NMedGen:CN169374|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110; MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473|MONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231,Or201039409610394096TC20:g.10394096T>CClinGen:CA9763749CN169374 not specified;
NM_018848.3(MKKS):c.59A>G (p.Glu20Gly)8195MKKSUncertain significancers199553497RCV000593856|RCV001036412; NMedGen:CN517202|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473; MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110201039410410394104TC20:g.10394104T>CClinGen:CA9763752CN169374 not specified;
NM_170784.3(MKKS):c.47del (p.Pro16fs)8195MKKSPathogenic-1RCV001231414; NMONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473; MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110201039411610394116TGT20:g.10394116_10394116del-
NM_170784.3(MKKS):c.40A>T (p.Ser14Cys)8195MKKSUncertain significance-1RCV001228611; NMONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473; MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110201039412310394123TA20:g.10394123T>A-
NM_170784.3(MKKS):c.29C>A (p.Ser10Ter)8195MKKSPathogenic-1RCV001245839; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110; MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201039413410394134GT20:g.10394134G>T-
NM_018848.3(MKKS):c.16G>A (p.Ala6Thr)8195MKKSBenign/Likely benignrs150920905RCV000476421|RCV001140042|RCV001140796; NMONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473; MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473|MONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110201039414710394147CT20:g.10394147C>TClinGen:CA9763761
NM_018848.3(MKKS):c.15A>G (p.Glu5=)8195MKKSLikely benignrs145396188RCV000862032; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110; MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201039414810394148TC20:g.10394148T>C-
NM_170784.3(MKKS):c.8G>A (p.Arg3His)8195MKKSUncertain significance-1RCV001246911; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110; MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201039415510394155CT20:g.10394155C>T-
NM_170784.3(MKKS):c.7C>T (p.Arg3Cys)8195MKKSUncertain significance-1RCV001228518; NMONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473; MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110201039415610394156GA20:g.10394156G>A-
NM_018848.3(MKKS):c.-21C>G8195MKKSUncertain significancers886056498RCV000269430|RCV000370572; NMONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201039418310394183GC20:g.10394183G>CClinGen:CA10652346C0752166 Bardet-Biedl syndrome;
NM_018848.3(MKKS):c.-22A>C8195MKKSUncertain significancers531656259RCV000326794|RCV000365098; NMONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473|MONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110201039418410394184TG20:g.10394184T>GClinGen:CA9763768C0752166 Bardet-Biedl syndrome;
NM_018848.3(MKKS):c.-39A>C8195MKKSUncertain significancers886056499RCV000272887|RCV000320867|RCV000767332; NMONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473|MedGen:CN517202201039420110394201TG20:g.10394201T>GClinGen:CA10649334C0752166 Bardet-Biedl syndrome;
NM_018848.3(MKKS):c.-58T>C8195MKKSBenignrs114068950RCV000286755|RCV000377844; NMONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201039422010394220AG20:g.10394220A>GClinGen:CA10652930C0752166 Bardet-Biedl syndrome;
NM_018848.3(MKKS):c.-159A>G8195MKKSUncertain significancers566532177RCV000316072|RCV000373131; NMONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201039432110394321TC20:g.10394321T>CClinGen:CA10652931C0752166 Bardet-Biedl syndrome;
NM_170784.3(MKKS):c.-159A>C8195MKKSUncertain significance-1RCV001142647|RCV001142648; NMONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201039432110394321TG20:g.10394321T>G-
NM_018848.3(MKKS):c.-306A>G8195MKKSConflicting interpretations of pathogenicityrs3748466RCV000280947|RCV000338067; NMONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201039446810394468TC20:g.10394468T>CClinGen:CA10643473
NM_018848.3(MKKS):c.-349A>G8195MKKSLikely benignrs140884406RCV000293824|RCV000385614; NMONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201039451110394511TC20:g.10394511T>CClinGen:CA10649336
NM_170784.3(MKKS):c.-384C>T8195MKKSUncertain significance-1RCV001137909|RCV001137910; NMONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473|MONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110201039454610394546GA20:g.10394546G>A-
NM_170784.3(MKKS):c.-388A>G8195MKKSUncertain significance-1RCV001137911|RCV001137912; NMONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201039455010394550TC20:g.10394550T>C-
NM_018848.3(MKKS):c.-406G>C8195MKKSUncertain significancers886056500RCV000351007|RCV000393645; NMONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201039456810394568CG20:g.10394568C>GClinGen:CA10643482
NM_018848.3(MKKS):c.-417-20dup8195MKKSUncertain significancers528193828RCV000306351|RCV000344765; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201039459110394592TTA20:g.10394591_10394592insAClinGen:CA10652932
NM_018848.3(MKKS):c.-477G>T8195MKKSUncertain significancers886056501RCV000309930|RCV000393654; NMONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473|MONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110201040123510401235CA20:g.10401235C>AClinGen:CA10652347
NM_018848.3(MKKS):c.-481T>A8195MKKSUncertain significancers886056502RCV000265359|RCV000357665; NMONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473|MONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110201040123910401239AT20:g.10401239A>TClinGen:CA10652933
NM_018848.3(MKKS):c.-495C>A8195MKKSUncertain significancers536112369RCV000304153|RCV000361830; NMONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473|MONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110201040125310401253GT20:g.10401253G>TClinGen:CA9763776
NM_018848.3(MKKS):c.-496T>G8195MKKSUncertain significancers554863155RCV000260023|RCV000317554; NMONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473|MONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110201040125410401254AC20:g.10401254A>CClinGen:CA9763777
NM_018848.3(MKKS):c.-557A>G8195MKKSUncertain significancers145467994RCV000263425|RCV000374477; NMONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473|MONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110201040131510401315TC20:g.10401315T>CClinGen:CA10643483
NM_018848.3(MKKS):c.-562C>T8195MKKSUncertain significancers886056503RCV000330303|RCV000387031; NMONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201040132010401320GA20:g.10401320G>AClinGen:CA10652351
NM_170784.3(MKKS):c.-618C>T8195MKKSBenign-1RCV001140916|RCV001140917; NMONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473|MONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110201040137610401376GA20:g.10401376G>A-
NM_018848.3(MKKS):c.-649+6T>G8195MKKSLikely benignrs377246386RCV000295158|RCV000352781; NMONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201041232610412326AC20:g.10412326A>CClinGen:CA10652352
NM_018848.3(MKKS):c.-707C>T8195MKKSUncertain significancers886056504RCV000289709|RCV000381720; NMONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473|MONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110201041239010412390GA20:g.10412390G>AClinGen:CA10652935
NM_018848.3(MKKS):c.-781del8195MKKSUncertain significancers566962031RCV000347040|RCV000407539; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201041246410412464TCT20:g.10412464_10412464delClinGen:CA10643484
NM_018848.3(MKKS):c.-835A>T8195MKKSUncertain significancers541967798RCV000302663|RCV000341124; NMONDO:MONDO:0011523,MedGen:C1858054,OMIM:605231, Orphanet:110|MONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473201041251810412518TA20:g.10412518T>AClinGen:CA10652353
NM_018848.3(MKKS):c.-871_-869dup8195MKKSLikely benignrs143825746RCV000296929|RCV000407536; NMONDO:MONDO:0009367,MedGen:C0948368,OMIM:236700, Orphanet:2473|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110201041255110412552TTCAA20:g.10412551_10412552insCAAClinGen:CA10649344
MSeqDR Portal