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:5725
Name:Holt-Oram syndrome
Definition:
Alternative IDs:DO:DOID:0060468|OMIM:142900
ParentIDs:MESH:D000015|MESH:D006330|MESH:D006344|MESH:D038061|MESH:D038062
TreeNumbers:C05.660.585.512/C535326 |C05.660.585.988/C535326 |C14.240.400.560.375/C535326 |C14.240.400/C535326 |C14.280.400.560.375/C535326 |C14.280.400/C535326 |C16.131.077/C535326 |C16.131.240.400.560.375/C535326 |C16.131.240.400/C535326 |C16.131.621.585.512/C535326 |C16.13
Synonyms:Atriodigital dysplasia |Atrio-Digital Syndrome |Cardiac-Limb Syndrome |Cervico-Oculo-Acoustic Syndrome |Heart-hand syndrome |Heart-Hand Syndrome, Type 1 |HOS |HOS1 |Ventriculo-Radial Syndrome |Wildervanck syndrome
Slim Mappings:Cardiovascular disease|Congenital abnormality|Musculoskeletal disease
Reference: MedGen: C535326
MeSH: C535326
OMIM: 142900;
MSeqDR LSDB:  
Genes: TBX5;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003468Abnormal vertebral morphology
3 HP:0001191Abnormality of the carpal bones
4 HP:0003974Absent radiusHP:0040284
5 HP:0009777Absent thumbHP:0040284
6 HP:0009751Aplasia of the pectoralis major muscleHP:0040284
7 HP:0003982Aplasia of the ulnaHP:0040284
8 HP:0040019Finger clinodactylyHP:0040284
9 HP:0002984Hypoplasia of the radiusHP:0040284
10 HP:0003022Hypoplasia of the ulnaHP:0040284
11 HP:0004383Hypoplastic left heart
12 HP:0001377Limited elbow extensionHP:0040284
13 HP:0009944Partial duplication of thumb phalanx
14 HP:0001643Patent ductus arteriosusHP:0040284
15 HP:0000767Pectus excavatumHP:0040284
16 HP:0009829Phocomelia
17 HP:0001684Secundum atrial septal defectHP:0040284
18 HP:0000894Short claviclesHP:0040284
19 HP:0011927Short digitHP:0040284
20 HP:0005792Short humerusHP:0040284
21 HP:0001245Small thenar eminenceHP:0040284
22 HP:0001159SyndactylyHP:0040284
23 HP:0002943Thoracic scoliosis
24 HP:0001199Triphalangeal thumbHP:0040284
25 HP:0001629Ventricular septal defectHP:0040284
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
GRCh37/hg19 12q24.21(chr12:114791609-114793234)6910TBX5Pathogenic-1RCV000767748; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114791609114793234nana-
NM_181486.4(TBX5):c.*1548C>T6910TBX5Uncertain significance-1RCV001110019; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114791789114791789GA12:g.114791789G>A-
NM_000192.3(TBX5):c.*1511G>A6910TBX5Uncertain significancers886048983RCV000392542; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114791826114791826CT12:g.114791826C>TClinGen:CA10640986C0265264 142900 Holt-Oram syndrome;
NM_000192.3(TBX5):c.*1477_*1480del6910TBX5Likely benignrs564562667RCV000303527; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114791857114791860CACTTC12:g.114791857_114791860delClinGen:CA10640990
NM_000192.3(TBX5):c.*1446T>G6910TBX5Uncertain significancers576867150RCV000358353; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114791891114791891AC12:g.114791891A>CClinGen:CA10640993
NM_000192.3(TBX5):c.*1385del6910TBX5Benignrs35534655RCV000405964; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114791952114791952GAG12:g.114791952_114791952delClinGen:CA10632062
NM_000192.3(TBX5):c.*1373G>T6910TBX5Benignrs192527148RCV000309364; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114791964114791964CA12:g.114791964C>AClinGen:CA10632063
NM_181486.4(TBX5):c.*1344G>A6910TBX5Uncertain significance-1RCV001110798; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114791993114791993CT12:g.114791993C>T-
NM_000192.3(TBX5):c.*1331T>G6910TBX5Benignrs535072534RCV000362444; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114792006114792006AC12:g.114792006A>CClinGen:CA10636525
NM_000192.3(TBX5):c.*1196T>C6910TBX5Uncertain significancers886048984RCV000277231; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114792141114792141AG12:g.114792141A>GClinGen:CA10640994
NM_000192.3(TBX5):c.*1188T>C6910TBX5Benignrs141223729RCV000332304; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114792149114792149AG12:g.114792149A>GClinGen:CA10640995
NM_000192.3(TBX5):c.*1111T>C6910TBX5Uncertain significancers886048985RCV000368337; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114792226114792226AG12:g.114792226A>GClinGen:CA10640306
NM_000192.3(TBX5):c.*1101A>G6910TBX5Benignrs6489956RCV000273486; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114792236114792236TC12:g.114792236T>CClinGen:CA10632067
NM_181486.4(TBX5):c.*1071C>T6910TBX5Uncertain significance-1RCV001112789; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114792266114792266GA12:g.114792266G>A-
NM_000192.3(TBX5):c.*960A>G6910TBX5Benignrs566107581RCV000319160; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114792377114792377TC12:g.114792377T>CClinGen:CA10640312
NM_000192.3(TBX5):c.*926T>C6910TBX5Uncertain significancers886048986RCV000373795; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114792411114792411AG12:g.114792411A>GClinGen:CA10632068
NM_000192.3(TBX5):c.*909A>G6910TBX5Benignrs184360838RCV000279283; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114792428114792428TC12:g.114792428T>CClinGen:CA10641001
NM_000192.3(TBX5):c.*875A>C6910TBX5Uncertain significancers886048987RCV000316111; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114792462114792462TG12:g.114792462T>GClinGen:CA10640313
NM_000192.3(TBX5):c.*856T>A6910TBX5Uncertain significancers886048988RCV000380085; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114792481114792481AT12:g.114792481A>TClinGen:CA10632070
NM_000192.3(TBX5):c.*852C>T6910TBX5Uncertain significancers886048989RCV000285667; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114792485114792485GA12:g.114792485G>AClinGen:CA10636528
NM_181486.4(TBX5):c.*836A>C6910TBX5Likely benign-1RCV001114140; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114792501114792501TG12:g.114792501T>G-
NM_000192.3(TBX5):c.*812C>T6910TBX5Benignrs143511878RCV000340596; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114792525114792525GA12:g.114792525G>AClinGen:CA10636533
NM_000192.3(TBX5):c.*806C>G6910TBX5Uncertain significancers886048990RCV000399741; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114792531114792531GC12:g.114792531G>CClinGen:CA10640316
NM_000192.3(TBX5):c.*795G>T6910TBX5Uncertain significancers886048991RCV000291279; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114792542114792542CA12:g.114792542C>AClinGen:CA10640317
NM_000192.3(TBX5):c.*755_*759delinsGAATAAGATGCTGGGCTCTTATTCAGCTGG6910TBX5Uncertain significancers886048992RCV000346259; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114792578114792582TGGCACCAGCTGAATAAGAGCCCAGCATCTTATTC12:g.114792578_114792579insCAGCTGAATAAGAGCCCAGCATCTTATTCClinGen:CA10641007
NM_000192.3(TBX5):c.*739T>C6910TBX5Benignrs117414057RCV000393676; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114792598114792598AG12:g.114792598A>GClinGen:CA10641008
NM_000192.3(TBX5):c.*718G>A6910TBX5Uncertain significancers886048993RCV000306939; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114792619114792619CT12:g.114792619C>TClinGen:CA10641011
NM_181486.4(TBX5):c.*717C>T6910TBX5Uncertain significance-1RCV001114141; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114792620114792620GA12:g.114792620G>A-
NM_000192.3(TBX5):c.*702T>C6910TBX5Uncertain significancers759107305RCV000370909; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114792635114792635AG12:g.114792635A>GClinGen:CA10641018
NM_000192.3(TBX5):c.*673C>T6910TBX5Benignrs140532076RCV000403617; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114792664114792664GA12:g.114792664G>AClinGen:CA10641019
NM_000192.3(TBX5):c.*601G>A6910TBX5Benignrs116382074RCV000312696; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114792736114792736CT12:g.114792736C>TClinGen:CA10640319C0265264 142900 Holt-Oram syndrome;
NM_000192.3(TBX5):c.*563G>A6910TBX5Benignrs78058633RCV000367556; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114792774114792774CT12:g.114792774C>TClinGen:CA10640320C0265264 142900 Holt-Oram syndrome;
NM_000192.3(TBX5):c.*545C>G6910TBX5Uncertain significancers886048994RCV000263486; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114792792114792792GC12:g.114792792G>CClinGen:CA10640321C0265264 142900 Holt-Oram syndrome;
NM_000192.3(TBX5):c.*524A>T6910TBX5Benignrs76799455RCV000300039; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114792813114792813TA12:g.114792813T>AClinGen:CA10641020C0265264 142900 Holt-Oram syndrome;
NM_000192.3(TBX5):c.*480G>A6910TBX5Benignrs569991822RCV000354860; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114792857114792857CT12:g.114792857C>TClinGen:CA10641021C0265264 142900 Holt-Oram syndrome;
NM_181486.4(TBX5):c.*439T>A6910TBX5Uncertain significance-1RCV001110102; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114792898114792898AT12:g.114792898A>T-
NM_000192.3(TBX5):c.*384T>C6910TBX5Benignrs12426660RCV000260111; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114792953114792953AG12:g.114792953A>GClinGen:CA10641022C0265264 142900 Holt-Oram syndrome;
NM_000192.3(TBX5):c.*306C>T6910TBX5Benignrs571901755RCV000324730; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114793031114793031GA12:g.114793031G>AClinGen:CA10632071C0265264 142900 Holt-Oram syndrome;
NM_000192.3(TBX5):c.*277C>T6910TBX5Uncertain significancers886048995RCV000379308; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114793060114793060GA12:g.114793060G>AClinGen:CA10632073C0265264 142900 Holt-Oram syndrome;
NM_000192.3(TBX5):c.*147T>C6910TBX5Uncertain significancers886048996RCV000264096; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114793190114793190AG12:g.114793190A>GClinGen:CA10641026C0265264 142900 Holt-Oram syndrome;
NM_000192.3(TBX5):c.*129A>G6910TBX5Uncertain significancers28730760RCV000321549; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114793208114793208TC12:g.114793208T>CClinGen:CA10641035C0265264 142900 Holt-Oram syndrome;
NM_181486.4(TBX5):c.*121A>G6910TBX5Benign-1RCV001110870; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114793216114793216TC12:g.114793216T>C-
NM_000192.3(TBX5):c.*97G>A6910TBX5Benignrs883079RCV000383069; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114793240114793240CT12:g.114793240C>TClinGen:CA6809291C0265264 142900 Holt-Oram syndrome;
NM_000192.3(TBX5):c.*77A>G6910TBX5Benignrs28730761RCV000290975; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114793260114793260TC12:g.114793260T>CClinGen:CA6809296C0265264 142900 Holt-Oram syndrome;
NM_000192.3(TBX5):c.*40A>G6910TBX5Benignrs10850326RCV000253579|RCV000343617; NMedGen:CN169374|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114793297114793297TC12:g.114793297T>CClinGen:CA6809305C0265264 142900 Holt-Oram syndrome;
NM_000192.3(TBX5):c.*4G>T6910TBX5Benignrs745708633RCV000388732; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114793333114793333CA12:g.114793333C>AClinGen:CA6809313C0265264 142900 Holt-Oram syndrome;
NM_181486.4(TBX5):c.1449G>A (p.Gln483=)6910TBX5Benign-1RCV001112862; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114793445114793445CT12:g.114793445C>T-
NM_181486.4(TBX5):c.1362G>A (p.Met454Ile)6910TBX5Uncertain significance-1RCV001112863; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114793532114793532CT12:g.114793532C>T-
NM_000192.3(TBX5):c.1346del (p.Gln449fs)6910TBX5Pathogenic-1RCV000782310; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114793548114793548CTC12:g.114793548_114793548del-
NM_000192.3(TBX5):c.1313G>A (p.Arg438Gln)6910TBX5Benignrs557758851RCV000296666; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114793581114793581CT12:g.114793581C>TClinGen:CA6809358C0265264 142900 Holt-Oram syndrome;
NM_000192.3(TBX5):c.1303del (p.Leu435fs)6910TBX5Pathogenic-1RCV000782294; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114793591114793591AGA12:g.114793591_114793591del-
NM_000192.3(TBX5):c.1281C>T (p.Ser427=)6910TBX5Benignrs6489957RCV000250546|RCV000349378|RCV000590823|RCV000621807|RCV001084555; NMedGen:CN169374|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:392|MedGen:CN517202|MedGen:CN230736|MONDO:MONDO:0013902,MedGen:C3542024,OMIM:61482312114793613114793613GA12:g.114793613G>AClinGen:CA6809366C3542024 614823 Aortic valve disease 2;
NM_000192.3(TBX5):c.1269C>G (p.Tyr423Ter)6910TBX5Pathogenicrs756049331RCV000782293; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114793625114793625GC12:g.114793625G>C-
NM_181486.4(TBX5):c.1233C>G (p.Thr411=)6910TBX5Likely benign-1RCV001112864; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114793661114793661GC12:g.114793661G>C-
NM_000192.3(TBX5):c.1203G>A (p.Trp401Ter)6910TBX5Pathogenicrs377649723RCV000782314; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114793691114793691CT12:g.114793691C>T-
NM_000192.3(TBX5):c.1158dup (p.Ser387fs)6910TBX5Pathogenicrs1064795870RCV000578349; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114793735114793736TTG12:g.114793735_114793736insGClinGen:CA658683792C0265264 142900 Holt-Oram syndrome;
NM_000192.3(TBX5):c.1152G>A (p.Ala384=)6910TBX5Benign/Likely benignrs200073406RCV000245819|RCV000407063; NMedGen:CN169374|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114793742114793742CT12:g.114793742C>TClinGen:CA6809396C0265264 142900 Holt-Oram syndrome;
NM_181486.4(TBX5):c.1135A>T (p.Met379Leu)6910TBX5Uncertain significance-1RCV001114220; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114793759114793759TA12:g.114793759T>A-
NM_000192.3(TBX5):c.1123C>T (p.Arg375Trp)6910TBX5Benignrs377532269RCV000300084; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114793771114793771GA12:g.114793771G>AClinGen:CA6809405C0265264 142900 Holt-Oram syndrome;
NM_181486.4(TBX5):c.1116G>A (p.Ser372=)6910TBX5Uncertain significance-1RCV001114221; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114793778114793778CT12:g.114793778C>T-
NM_000192.3(TBX5):c.1115C>T (p.Ser372Leu)6910TBX5Conflicting interpretations of pathogenicityrs143068551RCV000532471|RCV000621377|RCV001114222; NMONDO:MONDO:0013902,MedGen:C3542024,OMIM:614823|MedGen:CN230736|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114793779114793779GA12:g.114793779G>AClinGen:CA6809407
NM_000192.3(TBX5):c.1084C>T (p.Gln362Ter)6910TBX5Pathogenicrs765204502RCV000782302; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114793810114793810GA12:g.114793810G>A-
NM_000192.3(TBX5):c.1074del (p.Pro359fs)6910TBX5Pathogenic-1RCV000782345; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114793820114793820GAG12:g.114793820_114793820del-
NM_000192.3(TBX5):c.1045G>T (p.Glu349Ter)6910TBX5Pathogenicrs1565923887RCV000782300; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114793849114793849CA12:g.114793849C>A-
NM_000192.3(TBX5):c.978del (p.Glu328fs)6910TBX5Pathogenic-1RCV000782340; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114803974114803974TCT12:g.114803974_114803974del-
NM_000192.3(TBX5):c.943C>T (p.Gln315Ter)6910TBX5Pathogenicrs1565927645RCV000782347; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114804009114804009GA12:g.114804009G>A-
NM_000192.3(TBX5):c.933C>G (p.Tyr311Ter)6910TBX5Pathogenicrs1565927664RCV000782341; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114804019114804019GC12:g.114804019G>C-
NM_000192.3(TBX5):c.924del (p.Asn309fs)6910TBX5Pathogenic-1RCV000782333; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114804028114804028TGT12:g.114804028_114804028del-
NM_181486.4(TBX5):c.922C>T (p.Pro308Ser)6910TBX5Likely benign-1RCV001114223; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114804030114804030GA12:g.114804030G>A-
NM_181486.4(TBX5):c.905del (p.Gln302fs)6910TBX5Pathogenic-1RCV001257575; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114804047114804047CTC12:g.114804047_114804047del-
NM_000192.3(TBX5):c.879T>A (p.Cys293Ter)6910TBX5Pathogenicrs1565927740RCV000782296; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114804073114804073AT12:g.114804073A>T-
NM_000192.3(TBX5):c.868C>T (p.Gln290Ter)6910TBX5Pathogenicrs1565927747RCV000690734|RCV000782303; NMONDO:MONDO:0013902,MedGen:C3542024,OMIM:614823|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114804084114804084GA12:g.114804084G>A-
NM_000192.3(TBX5):c.846C>T (p.Ser282=)6910TBX5Uncertain significancers886048997RCV000338670; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114804106114804106GA12:g.114804106G>AClinGen:CA10641040C0265264 142900 Holt-Oram syndrome;
NM_000192.3(TBX5):c.845C>T (p.Ser282Phe)6910TBX5Pathogenicrs1565927794RCV000782316; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114804107114804107GA12:g.114804107G>A-
NM_000192.3(TBX5):c.835C>T (p.Arg279Ter)6910TBX5Pathogenicrs863223788RCV000196593|RCV000459213|RCV000782289; NMedGen:CN517202|MONDO:MONDO:0013902,MedGen:C3542024,OMIM:614823|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114804117114804117GA12:g.114804117G>AClinGen:CA321019
NM_000192.3(TBX5):c.804C>G (p.Ala268=)6910TBX5Benign/Likely benignrs35110399RCV000618351|RCV000733933|RCV000862030|RCV001114224; NMedGen:CN230736|MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114804148114804148GC12:g.114804148G>CClinGen:CA6809496CN230736 Cardiovascular phenotype;
NM_000192.3(TBX5):c.791G>A (p.Arg264Lys)6910TBX5Benign/Likely benignrs201071418RCV000407548|RCV000867185; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:392|MedGen:CN51720212114804161114804161CT12:g.114804161C>TClinGen:CA6809499C0265264 142900 Holt-Oram syndrome;
NM_000192.3(TBX5):c.787G>A (p.Val263Met)6910TBX5Conflicting interpretations of pathogenicityrs147405081RCV000180104|RCV000299054|RCV000515032|RCV000620833|RCV001087118; NMedGen:CN169374|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:392|MedGen:CN517202|MedGen:CN230736|MONDO:MONDO:0013902,MedGen:C3542024,OMIM:61482312114804165114804165CT12:g.114804165C>TClinGen:CA247496C3542024 614823 Aortic valve disease 2;
NM_000192.3(TBX5):c.786C>T (p.Thr262=)6910TBX5Benign/Likely benignrs375955080RCV000314668|RCV000360501|RCV000864590; NMedGen:CN169374|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:392|MedGen:CN51720212114804166114804166GA12:g.114804166G>AClinGen:CA6809500C0265264 142900 Holt-Oram syndrome;
NM_181486.4(TBX5):c.769G>A (p.Val257Met)6910TBX5Benign-1RCV001110182; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114804183114804183CT12:g.114804183C>T-
NM_181486.4(TBX5):c.756-2A>G6910TBX5Pathogenic/Likely pathogenic-1RCV001229255|RCV001270727; NMONDO:MONDO:0013902,MedGen:C3542024,OMIM:614823|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114804198114804198TC12:g.114804198T>C-
NM_000192.3(TBX5):c.755+2T>C6910TBX5Likely pathogenicrs1565935314RCV000782298; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114823279114823279AG12:g.114823279A>G-
NM_000192.3(TBX5):c.755G>C (p.Ser252Thr)6910TBX5Likely pathogenicrs863223776RCV000255260|RCV000782337; NMedGen:CN517202|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114823281114823281CG12:g.114823281C>GClinGen:CA10588541CN517202 not provided;
NM_000192.3(TBX5):c.729G>T (p.Glu243Asp)6910TBX5Conflicting interpretations of pathogenicityrs186183947RCV000620918|RCV001071468|RCV001110183; NMedGen:CN230736|MONDO:MONDO:0013902,MedGen:C3542024,OMIM:614823|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114823307114823307CA12:g.114823307C>AClinGen:CA6809524CN230736 Cardiovascular phenotype;
NM_000192.3(TBX5):c.728_729del (p.Glu243fs)6910TBX5Pathogenic-1RCV000782311; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114823307114823308GCTG12:g.114823307_114823308del-
NM_000192.3(TBX5):c.713dup (p.Ser239fs)6910TBX5Pathogenic-1RCV000782299; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114823322114823323GGC12:g.114823322_114823323insC-
NM_181486.4(TBX5):c.710G>A (p.Arg237Gln)6910TBX5Pathogenic/Likely pathogenicrs104894378RCV000008457|RCV000196777|RCV000474989; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:392|MedGen:CN517202|MONDO:MONDO:0013902,MedGen:C3542024,OMIM:61482312114823326114823326CT12:g.114823326C>TClinGen:CA254298,UniProtKB:Q99593#VAR_007456,OMIM:601620.0003C3542024 614823 Aortic valve disease 2;
NM_000192.3(TBX5):c.709C>T (p.Arg237Trp)6910TBX5Pathogenicrs104894382RCV000008459|RCV000128627|RCV000473181; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:392|Human Phenotype Ontology:HP:0001627,Human Phenotype Ontology:HP:3000001,MONDO:MONDO:0009327,MedGen:C0018798,OMIM:140500,OMIM:234750, Orphanet:88991|MONDO:MONDO:0013902,MedGen:C3542024,OMIM:614812114823327114823327GA12:g.114823327G>AClinGen:CA163404,UniProtKB:Q99593#VAR_009702,OMIM:601620.0005C3542024 614823 Aortic valve disease 2;
NM_000192.3(TBX5):c.703G>T (p.Gly235Ter)6910TBX5Pathogenicrs1565935397RCV000782327; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114823333114823333CA12:g.114823333C>A-
NM_000192.3(TBX5):c.694T>G (p.Phe232Val)6910TBX5Uncertain significancers1565935405RCV000782318; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114823342114823342AC12:g.114823342A>C-
NM_000192.3(TBX5):c.680_683del (p.Ile227fs)6910TBX5Pathogenicrs1565935410RCV000782317; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114823353114823356CTCAAC12:g.114823353_114823356del-
NM_000192.3(TBX5):c.677A>G (p.Lys226Arg)6910TBX5Likely pathogenicrs1565935426RCV000782325; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114823359114823359TC12:g.114823359T>C-
NM_000192.3(TBX5):c.674T>G (p.Leu225Ter)6910TBX5Pathogenicrs1565935432RCV000782346; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114823362114823362AC12:g.114823362A>C-
NM_000192.3(TBX5):c.668C>T (p.Thr223Met)6910TBX5Pathogenicrs1555225344RCV000519158|RCV000654913|RCV000782334; NMedGen:CN517202|MONDO:MONDO:0013902,MedGen:C3542024,OMIM:614823|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114823368114823368GA12:g.114823368G>AClinGen:CA386859862C3542024 614823 Aortic valve disease 2;
NM_000192.3(TBX5):c.664-2A>G6910TBX5Likely pathogenicrs1565935458RCV000782324; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114823374114823374TC12:g.114823374T>C-
NM_181486.4(TBX5):c.664-11C>T6910TBX5Uncertain significance-1RCV001110184; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114823383114823383GA12:g.114823383G>A-
NM_080717.3(TBX5):c.483_484TA[1] (p.Ile162fs)6910TBX5Pathogenic-1RCV000782312; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114832573114832574CTAC12:g.114832573_114832574del-
NM_000192.3(TBX5):c.593dup (p.Asn198fs)6910TBX5Pathogenic-1RCV000782297|RCV001056565; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:392|MONDO:MONDO:0013902,MedGen:C3542024,OMIM:61482312114832615114832616AAT12:g.114832615_114832616insT-
NM_000192.3(TBX5):c.587C>A (p.Ser196Ter)6910TBX5Pathogenicrs886041247RCV000277503|RCV000654912|RCV000782331|RCV001265928; NMedGen:CN517202|MONDO:MONDO:0013902,MedGen:C3542024,OMIM:614823|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:392|MeSH:D030342,MedGen:C095012312114832622114832622GT12:g.114832622G>TClinGen:CA10603231C3542024 614823 Aortic valve disease 2;
NM_181486.4(TBX5):c.585C>T (p.Gly195=)6910TBX5Uncertain significance-1RCV001110185; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114832624114832624GA12:g.114832624G>A-
NM_000192.3(TBX5):c.559_572dup (p.Asn191fs)6910TBX5Pathogenicrs1565939303RCV000782329; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114832636114832637AATTTTCATCCGCTTT12:g.114832636_114832637insTTTTCATCCGCTTT-
NM_181486.4(TBX5):c.538del (p.Gln180fs)6910TBX5Pathogenicrs1593876058RCV000988919; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114832671114832671TGT12:g.114832671_114832671del-
NM_000192.3(TBX5):c.537C>A (p.Tyr179Ter)6910TBX5Pathogenicrs1565939337RCV000782304; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114832672114832672GT12:g.114832672G>T-
NM_000192.3(TBX5):c.520A>G (p.Asn174Asp)6910TBX5Uncertain significancers1565939347RCV000782343; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114832689114832689TC12:g.114832689T>C-
NM_000192.3(TBX5):c.510+5G>A6910TBX5Uncertain significancers1555226301RCV000618557|RCV000685360|RCV000763794; NMedGen:CN230736|MONDO:MONDO:0013902,MedGen:C3542024,OMIM:614823|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114836373114836373CT12:g.114836373C>TClinGen:CA658797964
NM_000192.3(TBX5):c.510+5G>C6910TBX5Likely pathogenicrs1555226301RCV000782336; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114836373114836373CG12:g.114836373C>G-
NM_000192.3(TBX5):c.510+1G>T6910TBX5Likely pathogenicrs1565940841RCV000782291; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114836377114836377CA12:g.114836377C>A-
NM_000192.3(TBX5):c.500del (p.Pro167fs)6910TBX5Pathogenic-1RCV000782307; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114836388114836388TGT12:g.114836388_114836388del-
NM_000192.3(TBX5):c.496del (p.Asp166fs)6910TBX5Pathogenic-1RCV000782320; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114836392114836392TCT12:g.114836392_114836392del-
NM_000192.3(TBX5):c.457dup (p.Val153fs)6910TBX5Pathogenic-1RCV000782326; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114836430114836431AAC12:g.114836430_114836431insC-
NM_181486.4(TBX5):c.456C>T (p.Leu152=)6910TBX5Uncertain significance-1RCV001110186; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114836432114836432GA12:g.114836432G>A-
NM_000192.3(TBX5):c.444G>A (p.Trp148Ter)6910TBX5Pathogenicrs1555226315RCV000508630|RCV000782309; NMONDO:MONDO:0007172,MedGen:C1862389,OMIM:108800, Orphanet:1478|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114836444114836444CT12:g.114836444C>TClinGen:CA386862088
NM_000192.3(TBX5):c.426del (p.Ala143fs)6910TBX5Pathogenic-1RCV000782323; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114836462114836462CGC12:g.114836462_114836462del-
NM_000192.3(TBX5):c.416del (p.Pro139fs)6910TBX5Pathogenicrs1593880204RCV000008460; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114836472114836472TGT12:g.114836472_114836472delOMIM:601620.0006C0265264 142900 Holt-Oram syndrome;
NM_000192.3(TBX5):c.408C>A (p.Tyr136Ter)6910TBX5Pathogenicrs104894379RCV000008463; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114836480114836480GT12:g.114836480G>TClinGen:CA254306,OMIM:601620.0009C0265264 142900 Holt-Oram syndrome;
NM_181486.4(TBX5):c.372G>C (p.Thr124=)6910TBX5Uncertain significance-1RCV001110187; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114836516114836516CG12:g.114836516C>G-
NM_181486.4(TBX5):c.363-6A>G6910TBX5Benign/Likely benignrs757819289RCV000870581|RCV001110942; NMedGen:CN517202|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114836531114836531TC12:g.114836531T>C-
NM_000192.3(TBX5):c.354T>C (p.Asp118=)6910TBX5Benign/Likely benignrs151249768RCV000268178|RCV000621058; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:392|MedGen:CN23073612114837326114837326AG12:g.114837326A>GClinGen:CA6809638CN230736 Cardiovascular phenotype;
NM_000192.3(TBX5):c.342C>A (p.Tyr114Ter)6910TBX5Pathogenicrs1565941422RCV000782301; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114837338114837338GT12:g.114837338G>T-
NM_000192.3(TBX5):c.336del (p.His112fs)6910TBX5Pathogenic-1RCV000782339; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114837344114837344TGT12:g.114837344_114837344del-
NM_000192.3(TBX5):c.331G>T (p.Asp111Tyr)6910TBX5Benign/Likely benignrs77357563RCV000198075|RCV000246432|RCV000302138|RCV000420809|RCV001079884; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:392|MedGen:CN517202|MONDO:MONDO:0013902,MedGen:C3542024,OMIM:61482312114837349114837349CA12:g.114837349C>AClinGen:CA322552C3542024 614823 Aortic valve disease 2;
NM_000192.3(TBX5):c.318T>C (p.Ile106=)6910TBX5Benignrs141457646RCV000359278; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114837362114837362AG12:g.114837362A>GClinGen:CA6809644C0265264 142900 Holt-Oram syndrome;
NM_000192.3(TBX5):c.316A>G (p.Ile106Val)6910TBX5Benign/Likely benignrs147710408RCV000271791|RCV000514832|RCV000618876|RCV001080388; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:392|MedGen:CN517202|MedGen:CN230736|MONDO:MONDO:0013902,MedGen:C3542024,OMIM:61482312114837364114837364TC12:g.114837364T>CClinGen:CA323941
NM_000192.3(TBX5):c.309C>T (p.Leu103=)6910TBX5Benignrs28730763RCV000329123|RCV000468582|RCV000587262|RCV000621453; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:392|MONDO:MONDO:0013902,MedGen:C3542024,OMIM:614823|MedGen:CN517202|MedGen:CN23073612114837371114837371GA12:g.114837371G>AClinGen:CA323106
NM_000192.3(TBX5):c.295A>T (p.Lys99Ter)6910TBX5Pathogenicrs1565941529RCV000782328; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114837385114837385TA12:g.114837385T>A-
NM_000192.3(TBX5):c.261C>A (p.Tyr87Ter)6910TBX5Pathogenicrs767197919RCV000782348; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114837419114837419GT12:g.114837419G>T-
NM_000192.3(TBX5):c.254C>T (p.Pro85Leu)6910TBX5Uncertain significancers1565941576RCV000782342; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114837426114837426GA12:g.114837426G>A-
NM_000192.3(TBX5):c.253C>T (p.Pro85Ser)6910TBX5Likely pathogenicrs1565941579RCV000782306; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114837427114837427GA12:g.114837427G>A-
NM_000192.3(TBX5):c.246_249del (p.Met83fs)6910TBX5Pathogenicrs1565941587RCV000760294; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114837431114837434ACATCA12:g.114837431_114837434del-
NM_000192.3(TBX5):c.242+5G>A6910TBX5Likely pathogenicrs1555226575RCV000782292; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114839626114839626CT12:g.114839626C>T-
NM_000192.3(TBX5):c.238G>A (p.Gly80Arg)6910TBX5Pathogenicrs104894381RCV000008458; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114839635114839635CT12:g.114839635C>TClinGen:CA254300,UniProtKB:Q99593#VAR_009701,OMIM:601620.0004C0265264 142900 Holt-Oram syndrome;
NM_000192.3(TBX5):c.205G>T (p.Glu69Ter)6910TBX5Pathogenicrs104894377RCV000008456|RCV000760324; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:392|MedGen:CN51720212114839668114839668CA12:g.114839668C>AClinGen:CA254295,OMIM:601620.0002C0265264 142900 Holt-Oram syndrome;
NM_181486.4(TBX5):c.192G>A (p.Trp64Ter)6910TBX5Pathogenic/Likely pathogenic-1RCV001193147|RCV001268738; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:392|MedGen:CN51720212114839681114839681CT12:g.114839681C>T-
NM_000192.3(TBX5):c.174C>T (p.Leu58=)6910TBX5Uncertain significancers886048998RCV000381544; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114839699114839699GA12:g.114839699G>AClinGen:CA10636535C0265264 142900 Holt-Oram syndrome;
NM_000192.3(TBX5):c.161T>C (p.Ile54Thr)6910TBX5Pathogenicrs104894384RCV000008462; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114839712114839712AG12:g.114839712A>GClinGen:CA254304,UniProtKB:Q99593#VAR_015382,OMIM:601620.0008C0265264 142900 Holt-Oram syndrome;
NM_000192.3(TBX5):c.148-2A>G6910TBX5Likely pathogenicrs1565942511RCV000782338; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114839727114839727TC12:g.114839727T>C-
NM_000192.3(TBX5):c.145C>A (p.Gln49Lys)6910TBX5Pathogenicrs104894383RCV000008461; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114841559114841559GT12:g.114841559G>TClinGen:CA254302,UniProtKB:Q99593#VAR_015381,OMIM:601620.0007C0265264 142900 Holt-Oram syndrome;
NM_000192.3(TBX5):c.119C>A (p.Ser40Ter)6910TBX5Pathogenicrs903933027RCV000782330; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114841585114841585GT12:g.114841585G>T-
NM_000192.3(TBX5):c.114C>T (p.Ser38=)6910TBX5Benignrs34014008RCV000175545|RCV000270706|RCV000620844|RCV000861970; NMedGen:CN169374|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:392|MedGen:CN230736|MONDO:MONDO:0013902,MedGen:C3542024,OMIM:61482312114841590114841590GA12:g.114841590G>AClinGen:CA201505CN230736 Cardiovascular phenotype;
NM_181486.4(TBX5):c.105dup (p.Ser36fs)6910TBX5Pathogenic-1RCV001089629; NHuman Phenotype Ontology:HP:0011664,MedGen:C4021133; MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114841598114841599TTG12:g.114841598_114841599insG-
NM_000192.3(TBX5):c.105del (p.Ser36fs)6910TBX5Pathogenicrs1057516042RCV000408637; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114841599114841599TGT12:g.114841599_114841599delClinGen:CA10654762
NM_000192.3(TBX5):c.73_74insT (p.Asp25fs)6910TBX5Pathogenicrs1565943328RCV000782344; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114841630114841631TTA12:g.114841630_114841631insA-
NM_000192.3(TBX5):c.68C>A (p.Pro23His)6910TBX5Conflicting interpretations of pathogenicityrs141609745RCV000332226|RCV000621936|RCV001035070; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:392|MedGen:CN230736|MONDO:MONDO:0013902,MedGen:C3542024,OMIM:61482312114841636114841636GT12:g.114841636G>TClinGen:CA6809732CN230736 Cardiovascular phenotype;
NM_000192.3(TBX5):c.57A>G (p.Ala19=)6910TBX5Likely benignrs567785340RCV000389159; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114841647114841647TC12:g.114841647T>CClinGen:CA6809734
NM_000192.3(TBX5):c.55G>T (p.Ala19Ser)6910TBX5Conflicting interpretations of pathogenicityrs200461617RCV000244681|RCV000292317|RCV000596892|RCV001088685; NMedGen:CN230736|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:392|MedGen:CN517202|MONDO:MONDO:0013902,MedGen:C3542024,OMIM:61482312114841649114841649CA12:g.114841649C>AClinGen:CA6809736CN230736 Cardiovascular phenotype;
NM_000192.3(TBX5):c.54C>A (p.Asp18Glu)6910TBX5Uncertain significancers1479545982RCV000690141|RCV001112941; NMONDO:MONDO:0013902,MedGen:C3542024,OMIM:614823|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114841650114841650GT12:g.114841650G>T-
NM_181486.4(TBX5):c.16G>A (p.Glu6Lys)6910TBX5Benign-1RCV001112942; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114841688114841688CT12:g.114841688C>T-
NM_000192.3(TBX5):c.13G>A (p.Asp5Asn)6910TBX5Uncertain significancers886048999RCV000349562; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114841691114841691CT12:g.114841691C>TClinGen:CA10632086
NM_000192.3(TBX5):c.-39+12C>A6910TBX5Benignrs11837917RCV000373858|RCV000614532; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:392|MedGen:CN16937412114845607114845607GT12:g.114845607G>TClinGen:CA10641043
NM_000192.3(TBX5):c.-42G>A6910TBX5Uncertain significance-1RCV001112943; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114845622114845622CT12:g.114845622C>T-
NM_000192.3(TBX5):c.-107T>C6910TBX5Uncertain significance-1RCV001114294; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114845687114845687AG12:g.114845687A>G-
NM_000192.3(TBX5):c.-132G>A6910TBX5Uncertain significance-1RCV001114295; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114845712114845712CT12:g.114845712C>T-
NM_000192.3(TBX5):c.-153T>G6910TBX5Uncertain significance-1RCV001114296; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114845733114845733AC12:g.114845733A>C-
NM_000192.3(TBX5):c.-167G>A6910TBX5Benign-1RCV001114297; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114845747114845747CT12:g.114845747C>T-
NM_000192.3(TBX5):c.-255G>T6910TBX5Uncertain significancers186472610RCV000281703; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114845835114845835CA12:g.114845835C>AClinGen:CA10636547
NM_000192.3(TBX5):c.-305C>A6910TBX5Benignrs78462880RCV000334276; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114845885114845885GT12:g.114845885G>TClinGen:CA10636549
NM_000192.3(TBX5):c.-347C>G6910TBX5Uncertain significancers886049000RCV000400827; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114845927114845927GC12:g.114845927G>CClinGen:CA10640332
NM_000192.3(TBX5):c.-377C>T6910TBX5Benign-1RCV001114298; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114845957114845957GA12:g.114845957G>A-
NM_000192.3(TBX5):c.-403G>C6910TBX5Uncertain significance-1RCV001110281; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114845983114845983CG12:g.114845983C>G-
NM_000192.3(TBX5):c.-449G>C6910TBX5Benignrs148864662RCV000304380; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114846029114846029CG12:g.114846029C>GClinGen:CA10636554
NM_000192.3(TBX5):c.-481T>C6910TBX5Uncertain significancers575879858RCV000342848; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114846061114846061AG12:g.114846061A>GClinGen:CA10640333
NM_000192.3(TBX5):c.-487G>A6910TBX5Uncertain significance-1RCV001110282; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114846067114846067CT12:g.114846067C>T-
NM_000192.3(TBX5):c.-503C>T6910TBX5Uncertain significance-1RCV001110283; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114846083114846083GA12:g.114846083G>A-
NM_000192.3(TBX5):c.-545C>T6910TBX5Benignrs115599823RCV000392355; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114846125114846125GA12:g.114846125G>AClinGen:CA10640335
NM_000192.3(TBX5):c.-586C>G6910TBX5Benignrs76464487RCV000303286; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114846166114846166GC12:g.114846166G>CClinGen:CA10641044
NM_000192.3(TBX5):c.-637G>A6910TBX5Uncertain significancers886049001RCV000364733; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114846217114846217CT12:g.114846217C>TClinGen:CA10632087
NM_000192.3(TBX5):c.-648C>G6910TBX5Benignrs79465718RCV000406465; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114846228114846228GC12:g.114846228G>CClinGen:CA10632090
NM_000192.3(TBX5):c.-664G>A6910TBX5Benignrs186960328RCV000306716; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:39212114846244114846244CT12:g.114846244C>TClinGen:CA10632092
NC_000001.11:g.(?_218344334)_(218445619_?)del7042TGFB2Pathogenic-1RCV001033181; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218517676218618961nana-1-
NC_000001.11:g.(?_218345274)_(218347057_?)del7042TGFB2Pathogenic-1RCV000798827; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218518616218520399nana-
NC_000001.11:g.(?_218346682)_(218441382_?)del7042TGFB2Pathogenic-1RCV000634170; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218520024218614724nana-C0265264 142900 Holt-Oram syndrome;
NM_003238.5(TGFB2):c.13G>C (p.Val5Leu)7042TGFB2Uncertain significancers1571820552RCV000807292; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218520056218520056GC1:g.218520056G>C-
NM_003238.5(TGFB2):c.17T>C (p.Leu6Pro)7042TGFB2Uncertain significancers1553292060RCV000634159; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218520060218520060TC1:g.218520060T>CClinGen:CA344725105C0265264 142900 Holt-Oram syndrome;
NM_003238.5(TGFB2):c.37C>A (p.His13Asn)7042TGFB2Conflicting interpretations of pathogenicityrs763918203RCV000347838|RCV000634163; NMONDO:MONDO:0013897,MedGen:C3553762,OMIM:614816|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218520080218520080CA1:g.218520080C>AClinGen:CA1398364
NM_003238.6(TGFB2):c.59G>A (p.Ser20Asn)7042TGFB2Uncertain significance-1RCV001040138; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218520102218520102GA1:g.218520102G>A-
NM_003238.5(TGFB2):c.100C>T (p.Arg34Cys)7042TGFB2Uncertain significancers1571820734RCV000812434; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218520143218520143CT1:g.218520143C>T-
NM_003238.5(TGFB2):c.114G>A (p.Glu38=)7042TGFB2Benign/Likely benignrs149215818RCV000200359|RCV000254226|RCV000358235|RCV000590091|RCV000660310|RCV000769554|RCV001082164; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0013897,MedGen:C3553762,OMIM:614816|MedGen:CN517202|MONDO:MONDO:0003900,MedGen:C0009782|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet1218520157218520157GA1:g.218520157G>AClinGen:CA324920
NM_003238.5(TGFB2):c.133C>T (p.Leu45=)7042TGFB2Likely benignrs1553292084RCV000529883; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218520176218520176CT1:g.218520176C>TClinGen:CA423412690C0265264 142900 Holt-Oram syndrome;
NM_003238.5(TGFB2):c.193C>T (p.Pro65Ser)7042TGFB2Uncertain significancers747128130RCV000546758; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218520236218520236CT1:g.218520236C>TClinGen:CA1398383
NM_003238.5(TGFB2):c.199G>A (p.Val67Met)7042TGFB2Uncertain significancers201761868RCV000200774|RCV000249446|RCV000696533|RCV000765073; NMedGen:CN517202|MedGen:CN230736|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:392|MONDO:MONDO:0013897,MedGen:C3553762,OMIM:6148161218520242218520242GA1:g.218520242G>AClinGen:CA325359
NM_003238.5(TGFB2):c.209T>C (p.Ile70Thr)7042TGFB2Uncertain significancers1027195424RCV000477625; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218520252218520252TC1:g.218520252T>CClinGen:CA16610001
NM_003238.5(TGFB2):c.236A>G (p.Gln79Arg)7042TGFB2Uncertain significancers371241859RCV000196118|RCV000557999|RCV000621812; NMedGen:CN517202|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:392|MedGen:CN2307361218520279218520279AG1:g.218520279A>GClinGen:CA320534
NM_003238.5(TGFB2):c.238_239delinsAAG (p.Glu80fs)7042TGFB2Pathogenicrs1571821003RCV000820768; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218520281218520282GAAAG1:g.218520281_218520282insAG-
NM_003238.6(TGFB2):c.245C>T (p.Ala82Val)7042TGFB2Uncertain significancers1571821016RCV000994256|RCV001035482; NMedGen:CN517202|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218520288218520288CT1:g.218520288C>T-
NM_003238.5(TGFB2):c.252dup (p.Arg85fs)7042TGFB2Pathogenicrs1553292112RCV000472775; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218520293218520294CCG1:g.218520293_218520294insGClinGen:CA16610008C0265264 142900 Holt-Oram syndrome;
NM_003238.5(TGFB2):c.261C>T (p.Ala87=)7042TGFB2Likely benignrs746416777RCV000529630; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218520304218520304CT1:g.218520304C>TClinGen:CA1398391C0265264 142900 Holt-Oram syndrome;
NM_003238.6(TGFB2):c.268G>C (p.Glu90Gln)7042TGFB2Uncertain significance-1RCV001210511; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218520311218520311GC1:g.218520311G>C-
NM_003238.5(TGFB2):c.272G>A (p.Arg91His)7042TGFB2Conflicting interpretations of pathogenicityrs10482721RCV000196473|RCV000508622|RCV000586534|RCV000621813|RCV000986553|RCV001000016|RCV001171173; NMedGen:CN169374|MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623, Orphanet:388|MedGen:CN517202|MedGen:CN230736|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:392|MONDO:MONDO:0013897,MedGen:C3553762,OMIM:614816|MONDO:MONDO:0019625,MedGen:C47072431218520315218520315GA1:g.218520315G>AClinGen:CA320886,UniProtKB:P61812#VAR_012708CN230736 Cardiovascular phenotype;
NM_003238.5(TGFB2):c.294_308del (p.Ala100_Tyr104del)7042TGFB2Conflicting interpretations of pathogenicityrs398122883RCV000030733|RCV000468724; NMONDO:MONDO:0013897,MedGen:C3553762,OMIM:614816|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218520337218520351ACTACGCCAAGGAGGTA1:g.218520337_218520351delClinGen:CA281900,OMIM:190220.0002
NM_003238.6(TGFB2):c.297C>G (p.Tyr99Ter)7042TGFB2Pathogenic-1RCV001039270; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218520340218520340CG1:g.218520340C>G-
NM_003238.6(TGFB2):c.302AGG[1] (p.Glu102del)7042TGFB2Uncertain significance-1RCV001236364; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218520345218520347AAGGA1:g.218520345_218520347del-
NM_003238.5(TGFB2):c.303G>A (p.Lys101=)7042TGFB2Conflicting interpretations of pathogenicityrs147052890RCV000429951|RCV000462187|RCV000617824|RCV001093206|RCV001099535; NMedGen:CN169374|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:392|MedGen:CN230736|MedGen:CN517202|MONDO:MONDO:0013897,MedGen:C3553762,OMIM:6148161218520346218520346GA1:g.218520346G>AClinGen:CA1398401CN230736 Cardiovascular phenotype;
NM_003238.5(TGFB2):c.322A>T (p.Met108Leu)7042TGFB2Uncertain significancers1060501982RCV000462439; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218520365218520365AT1:g.218520365A>TClinGen:CA16609977
NM_003238.5(TGFB2):c.334T>C (p.Phe112Leu)7042TGFB2Uncertain significancers1553292141RCV000546519; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218520377218520377TC1:g.218520377T>CClinGen:CA344725808C0265264 142900 Holt-Oram syndrome;
NM_003238.5(TGFB2):c.346+1G>T7042TGFB2Likely pathogenicrs1553292145RCV000697723; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218520390218520390GT1:g.218520390G>T-
NC_000001.11:g.(?_218405159)_(219273649_?)del7042TGFB2Likely pathogenic-1RCV000809321; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218578501219446991nana-
NC_000001.11:g.(?_218405159)_(218405342_?)dup7042TGFB2Likely pathogenic-1RCV001031827; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218578501218578684nana-1-
NC_000001.11:g.(?_218405159)_(218444629_?)del7042TGFB2Likely pathogenic-1RCV001031063; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218578501218617971nana-1-
NM_003238.5(TGFB2):c.356C>T (p.Pro119Leu)7042TGFB2Conflicting interpretations of pathogenicityrs149533093RCV000196866|RCV000415640|RCV000477602|RCV000583868|RCV000621239|RCV000769556|RCV001093207; NMedGen:CN169374|MONDO:MONDO:0013897,MedGen:C3553762,OMIM:614816|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:392|Human Phenotype Ontology:HP:0004942,MedGen:C0003486|MedGen:CN230736|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91218578520218578520CT1:g.218578520C>TClinGen:CA321277C0003486 Aortic aneurysm;
NM_003238.5(TGFB2):c.357G>A (p.Pro119=)7042TGFB2Benign/Likely benignrs138514914RCV000198675|RCV000245471|RCV000354527|RCV000634167|RCV000680609; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0013897,MedGen:C3553762,OMIM:614816|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:392|MONDO:MONDO:0003900,MedGen:C00097821218578521218578521GA1:g.218578521G>AClinGen:CA323220CN230736 Cardiovascular phenotype;
NM_003238.5(TGFB2):c.362C>G (p.Thr121Ser)7042TGFB2Uncertain significancers1300823855RCV000520853|RCV000707281; NMedGen:CN517202|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218578526218578526CG1:g.218578526C>GClinGen:CA344725883
NM_003238.5(TGFB2):c.369C>T (p.Tyr123=)7042TGFB2Likely benignrs368157039RCV000559046; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218578533218578533CT1:g.218578533C>TClinGen:CA37597365C0265264 142900 Holt-Oram syndrome;
NM_003238.5(TGFB2):c.386T>C (p.Ile129Thr)7042TGFB2Uncertain significancers752823052RCV000705719|RCV000993706; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:392|MONDO:MONDO:0013897,MedGen:C3553762,OMIM:6148161218578550218578550TC1:g.218578550T>C-C0265264 142900 Holt-Oram syndrome;
NM_003238.5(TGFB2):c.391C>T (p.Arg131Ter)7042TGFB2Pathogenic/Likely pathogenicrs869025531RCV000208340|RCV000634164; NMONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192, Orphanet:60030|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218578555218578555CT1:g.218578555C>TClinGen:CA351959
NM_003238.6(TGFB2):c.392G>A (p.Arg131Gln)7042TGFB2Uncertain significance-1RCV001225831; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218578556218578556GA1:g.218578556G>A-
NM_003238.6(TGFB2):c.395T>C (p.Phe132Ser)7042TGFB2Uncertain significance-1RCV001229972; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218578559218578559TC1:g.218578559T>C-
NM_003238.5(TGFB2):c.400G>A (p.Val134Ile)7042TGFB2Uncertain significancers757551766RCV000796067; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218578564218578564GA1:g.218578564G>A-
NM_003238.5(TGFB2):c.428A>G (p.Asn143Ser)7042TGFB2Uncertain significancers141548795RCV000812503; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218578592218578592AG1:g.218578592A>G-
NM_003238.5(TGFB2):c.445T>G (p.Phe149Val)7042TGFB2Uncertain significancers896156575RCV000534948; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218578609218578609TG1:g.218578609T>GClinGen:CA37597444C0265264 142900 Holt-Oram syndrome;
NM_003238.6(TGFB2):c.447_448del (p.Phe149fs)7042TGFB2Pathogenic-1RCV001203162; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218578611218578612TCAT1:g.218578611_218578612del-
NM_003238.5(TGFB2):c.458G>A (p.Arg153His)7042TGFB2Uncertain significancers1057518684RCV000414990|RCV001213313; NMONDO:MONDO:0013897,MedGen:C3553762,OMIM:614816|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218578622218578622GA1:g.218578622G>AClinGen:CA16043643C3553762 614816 Loeys-Dietz syndrome 4;
NM_003238.6(TGFB2):c.490C>T (p.Gln164Ter)7042TGFB2Pathogenic-1RCV001239562; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218578654218578654CT1:g.218578654C>T-
NM_003238.5(TGFB2):c.493C>T (p.Arg165Trp)7042TGFB2Uncertain significancers773820426RCV000467653|RCV000619100; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:392|MedGen:CN2307361218578657218578657CT1:g.218578657C>TClinGen:CA1398460
NM_003238.5(TGFB2):c.501G>A (p.Glu167=)7042TGFB2Benign/Likely benignrs550789732RCV000616291|RCV000769557|RCV000865826; NMedGen:CN169374|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218578665218578665GA1:g.218578665G>AClinGen:CA1398461CN169374 not specified;
NM_003238.5(TGFB2):c.511-9C>T7042TGFB2Likely benignrs1309139149RCV000547562; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218607415218607415CT1:g.218607415C>TClinGen:CA529466416
NM_003238.5(TGFB2):c.511-8C>T7042TGFB2Likely benignrs770497232RCV000476005; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218607416218607416CT1:g.218607416C>TClinGen:CA1398533
NM_003238.5(TGFB2):c.544C>T (p.Gln182Ter)7042TGFB2Pathogenic/Likely pathogenicrs730880221RCV000157514|RCV001008708|RCV001050086; NMONDO:MONDO:0018954,MedGen:C2697932,OMIM:PS609192, Orphanet:60030|MedGen:CN517202|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218607457218607457CT1:g.218607457C>TClinGen:CA346685C2697932 Loeys-Dietz syndrome;
NM_003238.5(TGFB2):c.546G>A (p.Gln182=)7042TGFB2Likely benignrs1553302931RCV000634169; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218607459218607459GA1:g.218607459G>AClinGen:CA423413546C0265264 142900 Holt-Oram syndrome;
NM_003238.5(TGFB2):c.548G>A (p.Arg183His)7042TGFB2Uncertain significancers773177511RCV000619024|RCV000817127; NMedGen:CN230736|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218607461218607461GA1:g.218607461G>AClinGen:CA1398540
NM_003238.5(TGFB2):c.553A>G (p.Ile185Val)7042TGFB2Uncertain significancers1558262183RCV000696874; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218607466218607466AG1:g.218607466A>G-C0265264 142900 Holt-Oram syndrome;
NM_003238.5(TGFB2):c.555C>T (p.Ile185=)7042TGFB2Likely benignrs760740958RCV000559822; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218607468218607468CT1:g.218607468C>TClinGen:CA1398541C0265264 142900 Holt-Oram syndrome;
NM_003238.5(TGFB2):c.583G>T (p.Glu195Ter)7042TGFB2Pathogenicrs863223790RCV000199064|RCV000634160; NMedGen:CN517202|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218607496218607496GT1:g.218607496G>TClinGen:CA323602
NM_003238.5(TGFB2):c.588C>T (p.Gly196=)7042TGFB2Conflicting interpretations of pathogenicityrs192335285RCV000245913|RCV000421208|RCV000634166; NMedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218607501218607501CT1:g.218607501C>TClinGen:CA1398547CN230736 Cardiovascular phenotype;
NM_003238.5(TGFB2):c.589G>A (p.Glu197Lys)7042TGFB2Uncertain significancers764028978RCV000275080|RCV000536008; NMONDO:MONDO:0013897,MedGen:C3553762,OMIM:614816|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218607502218607502GA1:g.218607502G>AClinGen:CA1398548C0265264 142900 Holt-Oram syndrome;
NM_003238.6(TGFB2):c.611C>T (p.Thr204Ile)7042TGFB2Uncertain significance-1RCV001228917; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218607524218607524CT1:g.218607524C>T-
NM_001135599.3(TGFB2):c.703G>C (p.Val235Leu)7042TGFB2Benign/Likely benignrs10482810RCV000143953|RCV000196984|RCV000415676|RCV000514721|RCV000617048|RCV000986554; NMONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MedGen:CN169374|MONDO:MONDO:0013897,MedGen:C3553762,OMIM:614816|MedGen:CN517202|MedGen:CN230736|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218607532218607532GC1:g.218607532G>CClinGen:CA321408CN230736 Cardiovascular phenotype;
NM_001135599.3(TGFB2):c.727+7A>C7042TGFB2Benignrs7531245RCV000128393|RCV000234195|RCV000769559|RCV001000364; NMedGen:CN169374|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:392|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0013897,MedGen:C3553762,OMIM:6148161218607563218607563AC1:g.218607563A>CClinGen:CA293896
NM_003238.5(TGFB2):c.644-4C>T7042TGFB2Conflicting interpretations of pathogenicityrs11466408RCV000178188|RCV000549533; NMedGen:CN517202|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218607676218607676CT1:g.218607676C>TClinGen:CA245217C0265264 142900 Holt-Oram syndrome;
NM_003238.5(TGFB2):c.686G>T (p.Cys229Phe)7042TGFB2Uncertain significancers1185241582RCV000803851; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218607722218607722GT1:g.218607722G>T-
NM_003238.6(TGFB2):c.697C>T (p.Pro233Ser)7042TGFB2Uncertain significance-1RCV001053075; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218607733218607733CT1:g.218607733C>T-
NM_003238.5(TGFB2):c.739G>A (p.Glu247Lys)7042TGFB2Uncertain significancers1558262454RCV000695724|RCV000826057; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:392|MedGen:CN1693741218607775218607775GA1:g.218607775G>A-
NM_003238.5(TGFB2):c.747A>G (p.Arg249=)7042TGFB2Likely benignrs147960792RCV000435688|RCV000525659; NMedGen:CN169374|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218607783218607783AG1:g.218607783A>GClinGen:CA1398591C0265264 142900 Holt-Oram syndrome;
NC_000001.11:g.(?_218435960)_(218437506_?)del7042TGFB2Likely pathogenic-1RCV001031523; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218609302218610848nana-1-
NM_003238.5(TGFB2):c.755-5_755-2delinsG7042TGFB2Likely pathogenicrs1553303161RCV000634162; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218609307218609310TCAAG1:g.218609308_218609310delClinGen:CA658795609
NM_003238.5(TGFB2):c.759_760delinsAT (p.Asp254Tyr)7042TGFB2Uncertain significancers1553303162RCV000634161; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218609316218609317TGATNC_000001.10:g.218609316_218609317delinsATClinGen:CA658795610
NM_003238.5(TGFB2):c.773C>T (p.Thr258Ile)7042TGFB2Uncertain significancers373352179RCV000419049|RCV000688014|RCV001101517; NMedGen:CN517202|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:392|MONDO:MONDO:0013897,MedGen:C3553762,OMIM:6148161218609330218609330CT1:g.218609330C>TClinGen:CA1398609
NM_001135599.3(TGFB2):c.905dup (p.Asn302fs)7042TGFB2Pathogenic/Likely pathogenicrs863223796RCV000197799|RCV000507174|RCV001063952|RCV001170227; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:392|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:913871218609370218609371GGA1:g.218609370_218609371insAClinGen:CA322262CN517202 not provided;
NM_003238.6(TGFB2):c.817A>G (p.Lys273Glu)7042TGFB2Uncertain significance-1RCV001218140; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218609374218609374AG1:g.218609374A>G-
NM_003238.6(TGFB2):c.821A>C (p.Asn274Thr)7042TGFB2Uncertain significance-1RCV001219434; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218609378218609378AC1:g.218609378A>C-
NM_003238.5(TGFB2):c.823A>G (p.Ser275Gly)7042TGFB2Conflicting interpretations of pathogenicityrs139825195RCV000197386|RCV000246616|RCV000542520; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218609380218609380AG1:g.218609380A>GClinGen:CA321837CN230736 Cardiovascular phenotype;
NM_003238.6(TGFB2):c.835C>T (p.Pro279Ser)7042TGFB2Uncertain significance-1RCV001047759; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218609392218609392CT1:g.218609392C>T-
NM_003238.5(TGFB2):c.845T>C (p.Leu282Pro)7042TGFB2Uncertain significancers1558263254RCV000686958; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218609402218609402TC1:g.218609402T>C-
NM_003238.5(TGFB2):c.892_901del (p.Arg298fs)7042TGFB2Pathogenicrs1553303203RCV000550583; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218609449218609458CCGGCGGAAGAC1:g.218609449_218609458delClinGen:CA658656986
NM_003238.5(TGFB2):c.893G>A (p.Arg298Gln)7042TGFB2Uncertain significancers762561484RCV000198949|RCV000806655; NMedGen:CN517202|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218609450218609450GA1:g.218609450G>AClinGen:CA323488
NM_001135599.3(TGFB2):c.979C>T (p.Arg327Trp)7042TGFB2Pathogenic/Likely pathogenicrs863223792RCV000195710|RCV000210465|RCV000811636|RCV001174570; NMedGen:CN517202|MONDO:MONDO:0013897,MedGen:C3553762,OMIM:614816|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:392|MedGen:CN0782141218609452218609452CT1:g.218609452C>TClinGen:CA320073,UniProtKB:P61812#VAR_068932C3553762 614816 Loeys-Dietz syndrome 4;
NM_003238.5(TGFB2):c.896G>A (p.Arg299Gln)7042TGFB2Pathogenic/Likely pathogenicrs1057521150RCV000418728|RCV000660312|RCV001170228|RCV001234378; NMedGen:CN517202|MONDO:MONDO:0013897,MedGen:C3553762,OMIM:614816|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218609453218609453GA1:g.218609453G>AClinGen:CA16603488C3553762 614816 Loeys-Dietz syndrome 4;
NM_003238.5(TGFB2):c.904C>T (p.Arg302Cys)7042TGFB2Pathogenic/Likely pathogenicrs869312903RCV000210476|RCV000255040|RCV000688826|RCV001267069; NMONDO:MONDO:0013897,MedGen:C3553762,OMIM:614816|MedGen:CN517202|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:392|MeSH:D030342,MedGen:C09501231218609461218609461CT1:g.218609461C>TClinGen:CA354091C0265264 142900 Holt-Oram syndrome;
NM_003238.5(TGFB2):c.904C>A (p.Arg302Ser)7042TGFB2Uncertain significancers869312903RCV000229032; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218609461218609461CA1:g.218609461C>AClinGen:CA10581764
NM_003238.5(TGFB2):c.905G>A (p.Arg302His)7042TGFB2Conflicting interpretations of pathogenicityrs1553303213RCV000509486|RCV000620397|RCV000687648; NMedGen:CN517202|MedGen:CN230736|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218609462218609462GA1:g.218609462G>AClinGen:CA344727314CN230736 Cardiovascular phenotype;
NM_003238.5(TGFB2):c.915T>A (p.Asp305Glu)7042TGFB2Uncertain significancers1553303217RCV000526438; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218609472218609472TA1:g.218609472T>AClinGen:CA344727336C0265264 142900 Holt-Oram syndrome;
NM_003238.6(TGFB2):c.918_923dup (p.Tyr308Ter)7042TGFB2Pathogenic-1RCV001222267; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218609474218609475CCGGCCTA1:g.218609474_218609475insGGCCTA-
NM_003238.5(TGFB2):c.918G>A (p.Ala306=)7042TGFB2Uncertain significancers767936611RCV000469219|RCV000769561|RCV001101518; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:392|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086, Orphanet:91387|MONDO:MONDO:0013897,MedGen:C3553762,OMIM:6148161218609475218609475GA1:g.218609475G>AClinGen:CA1398623
NM_003238.6(TGFB2):c.949T>C (p.Cys317Arg)7042TGFB2Uncertain significance-1RCV001061321; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218610701218610701TC1:g.218610701T>C-
NM_003238.5(TGFB2):c.950G>C (p.Cys317Ser)7042TGFB2Uncertain significancers1553303351RCV000539015; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218610702218610702GC1:g.218610702G>CClinGen:CA344727427
NM_003238.5(TGFB2):c.958C>T (p.Arg320Cys)7042TGFB2Pathogenic/Likely pathogenicrs1553303352RCV000585795|RCV001247561; NMONDO:MONDO:0013897,MedGen:C3553762,OMIM:614816|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218610710218610710CT1:g.218610710C>TClinGen:CA344727446,OMIM:190220.0005C3553762 614816 Loeys-Dietz syndrome 4;
NM_003238.6(TGFB2):c.976T>C (p.Phe326Leu)7042TGFB2Uncertain significance-1RCV001230617; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218610728218610728TC1:g.218610728T>C-
NM_003238.6(TGFB2):c.990dup (p.Gly331fs)7042TGFB2Pathogenicrs1571904218RCV000797098; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218610741218610742TTA1:g.218610741_218610742insA-
NM_003238.5(TGFB2):c.1008C>T (p.His336=)7042TGFB2Likely benignrs886038528RCV000244772|RCV000862963; NMedGen:CN169374|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218610760218610760CT1:g.218610760C>TClinGen:CA10586726
NM_003238.5(TGFB2):c.1009G>A (p.Glu337Lys)7042TGFB2Uncertain significancers1476361240RCV000801571; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218610761218610761GA1:g.218610761G>A-
NM_003238.5(TGFB2):c.1027G>A (p.Ala343Thr)7042TGFB2Uncertain significancers779554274RCV000699157; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218610779218610779GA1:g.218610779G>A-
NM_003238.6(TGFB2):c.1043G>A (p.Gly348Glu)7042TGFB2Uncertain significance-1RCV001243621; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218610795218610795GA1:g.218610795G>A-
NM_003238.5(TGFB2):c.1049G>A (p.Cys350Tyr)7042TGFB2Uncertain significancers1558264109RCV000697705; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218610801218610801GA1:g.218610801G>A-
NM_003238.5(TGFB2):c.1052C>T (p.Pro351Leu)7042TGFB2Uncertain significancers773943154RCV000824440; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218610804218610804CT1:g.218610804C>T-
NM_003238.6(TGFB2):c.1057T>G (p.Leu353Val)7042TGFB2Uncertain significance-1RCV001241378; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218610809218610809TG1:g.218610809T>G-
NM_003238.5(TGFB2):c.1062G>A (p.Trp354Ter)7042TGFB2Uncertain significancers1558264130RCV000699164; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218610814218610814GA1:g.218610814G>A-
NC_000001.11:g.(?_218441194)_(218444629_?)del7042TGFB2Uncertain significance-1RCV001032959; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218614536218617971nana-1-
NM_003238.5(TGFB2):c.1122A>T (p.Ala374=)7042TGFB2Likely benignrs1316829320RCV000634168; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218614581218614581AT1:g.218614581A>TClinGen:CA423174079C0265264 142900 Holt-Oram syndrome;
NM_003238.6(TGFB2):c.1136G>T (p.Cys379Phe)7042TGFB2Uncertain significance-1RCV001059197; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218614595218614595GT1:g.218614595G>T-
NM_003238.5(TGFB2):c.1140C>T (p.Cys380=)7042TGFB2Conflicting interpretations of pathogenicityrs201129153RCV000459106|RCV000615791; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:392|MedGen:CN1693741218614599218614599CT1:g.218614599C>TClinGen:CA1398687
NM_003238.6(TGFB2):c.1186A>C (p.Lys396Gln)7042TGFB2Uncertain significance-1RCV001042366; NMONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218614645218614645AC1:g.218614645A>C-
NM_003238.5(TGFB2):c.1239C>T (p.Cys413=)7042TGFB2Benign/Likely benignrs141225367RCV000198547|RCV000247661|RCV000634165; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0007732,MedGen:C0265264,OMIM:142900, Orphanet:3921218614698218614698CT1:g.218614698C>TClinGen:CA323064
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