| NM_017617.5(NOTCH1):c.1023C>T (p.Ser341=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001450593]|Familial thoracic aortic aneurysm and aortic dissection [RCV003380763] |
Chr9:136518667 [GRCh38]
Chr9:139413119 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.20C>T (p.Pro7Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000532252] |
Chr9:136545767 [GRCh38]
Chr9:139440219 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2646A>T (p.Ala882=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000554756]|Aortic valve disease 1 [RCV002270685]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770639]|not provided [RCV003736817]|not specified [RCV000614432] |
Chr9:136510747 [GRCh38]
Chr9:139405199 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.6503G>A (p.Cys2168Tyr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000550878]|Familial thoracic aortic aneurysm and aortic dissection [RCV003159950] |
Chr9:136497236 [GRCh38]
Chr9:139391688 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.128C>T (p.Thr43Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002384008]|not provided [RCV000519931] |
Chr9:136544036 [GRCh38]
Chr9:139438488 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7585G>A (p.Val2529Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000543627]|Familial thoracic aortic aneurysm and aortic dissection [RCV002395495] |
Chr9:136496154 [GRCh38]
Chr9:139390606 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4879C>T (p.Arg1627Cys) |
single nucleotide variant |
not provided [RCV000520423] |
Chr9:136504812 [GRCh38]
Chr9:139399264 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3034G>A (p.Gly1012Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000549664]|Inborn genetic diseases [RCV003278920] |
Chr9:136509007 [GRCh38]
Chr9:139403459 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5347C>T (p.Arg1783Trp) |
single nucleotide variant |
not provided [RCV000522228] |
Chr9:136502309 [GRCh38]
Chr9:139396761 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5784C>T (p.Gly1928=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000525662]|Aortic valve disease 1 [RCV001335845] |
Chr9:136500702 [GRCh38]
Chr9:139395154 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.147C>T (p.Gly49=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000551633]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170717]|not provided [RCV000841992] |
Chr9:136523973 [GRCh38]
Chr9:139418425 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.7115G>A (p.Arg2372Gln) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000529611]|Aortic valve disease 1 [RCV002270710]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315058]|not provided [RCV001575211] |
Chr9:136496624 [GRCh38]
Chr9:139391076 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.3664G>A (p.Val1222Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000532992]|Aortic valve disease 1 [RCV002270691]|Aortic valve disease 1 [RCV002506375]|Connective tissue disorder [RCV000660159]|not provided [RCV003736818] |
Chr9:136506953 [GRCh38]
Chr9:139401405 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.4307C>T (p.Ala1436Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000549909]|Aortic valve disease 1 [RCV002270696]|Familial thoracic aortic aneurysm and aortic dissection [RCV002330986]|not provided [RCV001731787] |
Chr9:136505589 [GRCh38]
Chr9:139400041 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.702C>T (p.Arg234=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000553326] |
Chr9:136522890 [GRCh38]
Chr9:139417342 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5407G>A (p.Gly1803Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000528056] |
Chr9:136502066 [GRCh38]
Chr9:139396518 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2014+7G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001419233] |
Chr9:136515283 [GRCh38]
Chr9:139409735 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5282G>A (p.Arg1761Gln) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000551137]|Familial thoracic aortic aneurysm and aortic dissection [RCV002350402] |
Chr9:136502374 [GRCh38]
Chr9:139396826 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6895G>A (p.Gly2299Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000552480]|Aortic valve disease 1 [RCV002270636]|not provided [RCV000521367] |
Chr9:136496844 [GRCh38]
Chr9:139391296 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.6924C>T (p.Cys2308=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000528765] |
Chr9:136496815 [GRCh38]
Chr9:139391267 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000693083]|Aortic valve disease 1 [RCV002270629]|Aortic valve disease 1 [RCV003224309]|Familial thoracic aortic aneurysm and aortic dissection [RCV002367734]|Hypoplastic left heart syndrome [RCV001291516]|not provided [RCV000519706]|not specified [RCV003330741] |
Chr9:136506764 [GRCh38]
Chr9:139401216 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.5981A>G (p.Asp1994Gly) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000531729]|Aortic valve disease 1 [RCV002270628]|not provided [RCV000519774] |
Chr9:136499213 [GRCh38]
Chr9:139393665 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.235C>T (p.Arg79Cys) |
single nucleotide variant |
not provided [RCV000520005] |
Chr9:136523885 [GRCh38]
Chr9:139418337 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NC_000009.11:g.(?_139390503)_(139438574_?)dup |
duplication |
Adams-Oliver syndrome 5 [RCV000545220] |
Chr9:136496051..136544122 [GRCh38]
Chr9:139390503..139438574 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3510+3G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000527368]|Aortic valve disease 1 [RCV000764816]|Familial thoracic aortic aneurysm and aortic dissection [RCV003343924]|not provided [RCV000659138] |
Chr9:136507952 [GRCh38]
Chr9:139402404 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.5167+43_5167+44delinsT |
indel |
not specified [RCV000119868] |
Chr9:136503138..136503139 [GRCh38]
Chr9:139397590..139397591 [GRCh37]
Chr9:9q34.3 |
not provided |
| NM_017617.5(NOTCH1):c.3319C>T (p.Arg1107Ter) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001851821]|Aortic valve disease 1 [RCV000013294]|not provided [RCV001781254] |
Chr9:136508238 [GRCh38]
Chr9:139402690 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.4512del (p.Cys1505fs) |
deletion |
Aortic valve disease 1 [RCV000013295] |
Chr9:136505384 [GRCh38]
Chr9:139399836 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.2037C>T (p.Ile679=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000543786]|Aortic valve disease 1 [RCV002270678]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315044] |
Chr9:136514680 [GRCh38]
Chr9:139409132 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.1256-8C>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000546314] |
Chr9:136517945 [GRCh38]
Chr9:139412397 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5219C>T (p.Ala1740Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002527634]|Familial thoracic aortic aneurysm and aortic dissection [RCV002350154]|not provided [RCV000518862] |
Chr9:136502437 [GRCh38]
Chr9:139396889 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2218G>A (p.Asp740Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000545712]|Aortic valve disease 1 [RCV000764818]|Aortic valve disease 1 [RCV002270681]|Familial thoracic aortic aneurysm and aortic dissection [RCV002420545] |
Chr9:136513527 [GRCh38]
Chr9:139407979 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.3901+10G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000547192]|Aortic valve disease 1 [RCV002270695]|Connective tissue disorder [RCV000680589] |
Chr9:136506706 [GRCh38]
Chr9:139401158 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6836C>T (p.Ala2279Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655274]|Familial thoracic aortic aneurysm and aortic dissection [RCV002367736]|NOTCH1-related condition [RCV003925561]|not provided [RCV003133303]|not specified [RCV000522367] |
Chr9:136496903 [GRCh38]
Chr9:139391355 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.7529T>C (p.Leu2510Pro) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000542998] |
Chr9:136496210 [GRCh38]
Chr9:139390662 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1863C>T (p.Arg621=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000525044]|Familial thoracic aortic aneurysm and aortic dissection [RCV002413651]|not provided [RCV001579995] |
Chr9:136515523 [GRCh38]
Chr9:139409975 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5934+8G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000543610]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769591] |
Chr9:136500544 [GRCh38]
Chr9:139394996 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4027G>A (p.Ala1343Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000548273]|Familial thoracic aortic aneurysm and aortic dissection [RCV002358626]|not provided [RCV001764631] |
Chr9:136505869 [GRCh38]
Chr9:139400321 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2969+13C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002062822]|Aortic valve disease 1 [RCV002270726]|not specified [RCV000602986] |
Chr9:136509720 [GRCh38]
Chr9:139404172 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.3403G>A (p.Ala1135Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000551483] |
Chr9:136508062 [GRCh38]
Chr9:139402514 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1255+9C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000529146] |
Chr9:136518128 [GRCh38]
Chr9:139412580 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7313C>T (p.Pro2438Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001855283]|Aortic valve disease 1 [RCV000768032]|Aortic valve disease 1 [RCV002270918]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315135]|not provided [RCV001584443] |
Chr9:136496426 [GRCh38]
Chr9:139390878 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.5829C>A (p.Ala1943=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000542649] |
Chr9:136500657 [GRCh38]
Chr9:139395109 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3831C>T (p.Asp1277=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000546407]|Aortic valve disease 1 [RCV002270693]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315048]|not provided [RCV001550119] |
Chr9:136506786 [GRCh38]
Chr9:139401238 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.6666G>A (p.Pro2222=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000551815]|Aortic valve disease 1 [RCV002270707]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315057]|not provided [RCV000841268] |
Chr9:136497073 [GRCh38]
Chr9:139391525 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7223T>C (p.Leu2408Pro) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000546637]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769576]|not provided [RCV001545385] |
Chr9:136496516 [GRCh38]
Chr9:139390968 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5365G>A (p.Glu1789Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000547801] |
Chr9:136502291 [GRCh38]
Chr9:139396743 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3042G>A (p.Thr1014=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001081076]|Aortic valve disease 1 [RCV002270689]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315046]|NOTCH1-related condition [RCV003980044]|not provided [RCV000831024] |
Chr9:136508999 [GRCh38]
Chr9:139403451 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.6027C>T (p.Gly2009=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000544196] |
Chr9:136499167 [GRCh38]
Chr9:139393619 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.335G>A (p.Arg112His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001851497]|Aortic valve disease 1 [RCV001199078]|Familial thoracic aortic aneurysm and aortic dissection [RCV002323887]|not provided [RCV000522642] |
Chr9:136523785 [GRCh38]
Chr9:139418237 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.591C>T (p.Asn197=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000530850]|Aortic valve disease 1 [RCV002270704]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798896]|not provided [RCV001697417] |
Chr9:136523001 [GRCh38]
Chr9:139417453 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.2665G>A (p.Gly889Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000530923] |
Chr9:136510728 [GRCh38]
Chr9:139405180 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5780C>T (p.Thr1927Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000553914] |
Chr9:136500706 [GRCh38]
Chr9:139395158 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3341G>A (p.Arg1114His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000818617]|Aortic valve disease 1 [RCV002270635]|Aortic valve disease 1 [RCV002497034]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798869]|NOTCH1-related condition [RCV003419914]|not provided [RCV000521074] |
Chr9:136508124 [GRCh38]
Chr9:139402576 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.1590C>T (p.Asp530=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000528522]|Familial thoracic aortic aneurysm and aortic dissection [RCV002404578] |
Chr9:136516060 [GRCh38]
Chr9:139410512 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2292C>T (p.Asn764=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001443891]|Aortic valve disease 1 [RCV002270683]|Familial thoracic aortic aneurysm and aortic dissection [RCV002456266]|not provided [RCV000551033] |
Chr9:136513453 [GRCh38]
Chr9:139407905 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3555C>T (p.Asp1185=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000552306] |
Chr9:136507393 [GRCh38]
Chr9:139401845 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4137G>A (p.Thr1379=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000549287]|Familial thoracic aortic aneurysm and aortic dissection [RCV002330985] |
Chr9:136505759 [GRCh38]
Chr9:139400211 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1 |
copy number loss |
See cases [RCV000050344] |
Chr9:136323974..138014606 [GRCh38]
Chr9:139218428..140909058 [GRCh37]
Chr9:138338249..140028879 [NCBI36]
Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 |
copy number gain |
See cases [RCV000050348] |
Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 |
copy number gain |
See cases [RCV000051040] |
Chr9:122792658..138124532 [GRCh38]
Chr9:125554937..141018984 [GRCh37]
Chr9:124594758..140138805 [NCBI36]
Chr9:9q33.2-34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:136323974-138124532)x1 |
copy number loss |
See cases [RCV000051116] |
Chr9:136323974..138124532 [GRCh38]
Chr9:139218428..141018984 [GRCh37]
Chr9:138338249..140138805 [NCBI36]
Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 |
copy number gain |
See cases [RCV000051009] |
Chr9:121112395..138075224 [GRCh38]
Chr9:123874673..140969676 [GRCh37]
Chr9:122914494..140089497 [NCBI36]
Chr9:9q33.2-34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1 |
copy number loss |
See cases [RCV000052937] |
Chr9:135452016..137613738 [GRCh38]
Chr9:138343862..140508190 [GRCh37]
Chr9:137483683..139628011 [NCBI36]
Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1 |
copy number loss |
See cases [RCV000052936] |
Chr9:134428674..138154922 [GRCh38]
Chr9:137320520..141049374 [GRCh37]
Chr9:136460341..140169195 [NCBI36]
Chr9:9q34.2-34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:136015976-138124532)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052938]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052938]|See cases [RCV000052938] |
Chr9:136015976..138124532 [GRCh38]
Chr9:138907822..141018984 [GRCh37]
Chr9:138047643..140138805 [NCBI36]
Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:136323542-136565950)x1 |
copy number loss |
See cases [RCV000052939] |
Chr9:136323542..136565950 [GRCh38]
Chr9:139217996..139460402 [GRCh37]
Chr9:138337817..138580223 [NCBI36]
Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 |
copy number gain |
See cases [RCV000053745] |
Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3 |
copy number gain |
See cases [RCV000053779] |
Chr9:129068560..136495351 [GRCh38]
Chr9:131830839..139389803 [GRCh37]
Chr9:130870660..138509624 [NCBI36]
Chr9:9q34.11-34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] |
Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3 |
copy number gain |
See cases [RCV000053814] |
Chr9:134174698..138138735 [GRCh38]
Chr9:137091194..141033187 [GRCh37]
Chr9:136029641..140153008 [NCBI36]
Chr9:9q34.2-34.3 |
pathogenic |
| GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] |
Chr9:121586837..138179445 [GRCh38]
Chr9:124349116..141073897 [GRCh37]
Chr9:123388937..140193718 [NCBI36]
Chr9:9q33.2-34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 |
copy number gain |
See cases [RCV000053746] |
Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.5340G>A (p.Lys1780=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001418837]|Familial thoracic aortic aneurysm and aortic dissection [RCV003162466] |
Chr9:136502316 [GRCh38]
Chr9:139396768 [GRCh37]
Chr9:138516589 [NCBI36]
Chr9:9q34.3 |
likely benign|not provided |
| NM_017617.5(NOTCH1):c.4719G>A (p.Thr1573=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002270957]|Aortic valve disease 1 [RCV002270956]|Connective tissue disorder [RCV000660166]|not provided [RCV000842219] |
Chr9:136504972 [GRCh38]
Chr9:139399424 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7232CAC[6] (p.Pro2415dup) |
microsatellite |
Adams-Oliver syndrome 5 [RCV001861714]|Connective tissue disorder [RCV000660179] |
Chr9:136496492..136496493 [GRCh38]
Chr9:139390944..139390945 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.415C>T (p.Gln139Ter) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000662235] |
Chr9:136523177 [GRCh38]
Chr9:139417629 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.2704C>T (p.Arg902Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000662249] |
Chr9:136510689 [GRCh38]
Chr9:139405141 [GRCh37]
Chr9:9q34.3 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_017617.5(NOTCH1):c.4222G>T (p.Glu1408Ter) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000662251] |
Chr9:136505674 [GRCh38]
Chr9:139400126 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.5272C>G (p.Arg1758Gly) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000662255] |
Chr9:136502384 [GRCh38]
Chr9:139396836 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6128C>T (p.Ala2043Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000662257] |
Chr9:136498951 [GRCh38]
Chr9:139393403 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2047G>A (p.Ala683Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001372448]|Connective tissue disorder [RCV000660146] |
Chr9:136514670 [GRCh38]
Chr9:139409122 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4179C>T (p.Gly1393=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002270955]|Aortic valve disease 1 [RCV002270954]|Connective tissue disorder [RCV000660163]|Familial thoracic aortic aneurysm and aortic dissection [RCV002331295]|not provided [RCV001576391] |
Chr9:136505717 [GRCh38]
Chr9:139400169 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.5260G>A (p.Val1754Met) |
single nucleotide variant |
Connective tissue disorder [RCV000660173] |
Chr9:136502396 [GRCh38]
Chr9:139396848 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.865+10C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001469626]|Connective tissue disorder [RCV000660140]|NOTCH1-related condition [RCV003938013] |
Chr9:136519433 [GRCh38]
Chr9:139413885 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1699A>G (p.Ile567Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001086273]|Aortic valve disease 1 [RCV000764819]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170168]|not provided [RCV000826311]|not specified [RCV000121657] |
Chr9:136515687 [GRCh38]
Chr9:139410139 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance|not provided |
| NM_017617.5(NOTCH1):c.1754C>T (p.Ala585Val) |
single nucleotide variant |
not specified [RCV000121658] |
Chr9:136515632 [GRCh38]
Chr9:139410084 [GRCh37]
Chr9:9q34.3 |
not provided |
| NM_017617.5(NOTCH1):c.1702G>A (p.Asp568Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002055370]|not specified [RCV000121659] |
Chr9:136515684 [GRCh38]
Chr9:139410136 [GRCh37]
Chr9:9q34.3 |
likely benign|not provided |
| NM_017617.5(NOTCH1):c.1862G>A (p.Arg621His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000234523]|Aortic valve disease 1 [RCV002269848]|Connective tissue disorder [RCV000660145]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769600]|not provided [RCV001704035]|not specified [RCV000121660] |
Chr9:136515524 [GRCh38]
Chr9:139409976 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|not provided |
| NM_017617.5(NOTCH1):c.2080G>A (p.Glu694Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000988297]|Connective tissue disorder [RCV000660148]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170165]|NOTCH1-related condition [RCV003975082]|not provided [RCV001579914]|not specified [RCV000121661] |
Chr9:136514637 [GRCh38]
Chr9:139409089 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_017617.5(NOTCH1):c.2108G>A (p.Arg703His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000544874]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313933]|NOTCH1-related condition [RCV003945094]|not provided [RCV001358460]|not specified [RCV000121662] |
Chr9:136514609 [GRCh38]
Chr9:139409061 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance|not provided |
| NM_017617.5(NOTCH1):c.2192G>A (p.Arg731Gln) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003105792]|not specified [RCV000121663] |
Chr9:136514525 [GRCh38]
Chr9:139408977 [GRCh37]
Chr9:9q34.3 |
benign|not provided |
| NM_017617.5(NOTCH1):c.2247C>G (p.Asn749Lys) |
single nucleotide variant |
not specified [RCV000121665] |
Chr9:136513498 [GRCh38]
Chr9:139407950 [GRCh37]
Chr9:9q34.3 |
not provided |
| NM_017617.5(NOTCH1):c.2473A>G (p.Thr825Ala) |
single nucleotide variant |
not specified [RCV000121667] |
Chr9:136511266 [GRCh38]
Chr9:139405718 [GRCh37]
Chr9:9q34.3 |
not provided |
| NM_017617.5(NOTCH1):c.2495C>T (p.Pro832Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000470027]|Bicuspid aortic valve [RCV001263406]|Familial thoracic aortic aneurysm and aortic dissection [RCV002426670]|Inborn genetic diseases [RCV000254053]|NOTCH1-related condition [RCV003945095]|not provided [RCV001697110]|not specified [RCV000121668] |
Chr9:136511244 [GRCh38]
Chr9:139405696 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance|not provided |
| NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000229399]|Aortic valve disease 1 [RCV002269850]|Aortic valve disease 1 [RCV003227670]|Connective tissue disorder [RCV000660152]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170158]|not provided [RCV001573939]|not specified [RCV000121669] |
Chr9:136511197 [GRCh38]
Chr9:139405649 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_017617.5(NOTCH1):c.2635C>T (p.Arg879Trp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000529805]|not specified [RCV000121670] |
Chr9:136510758 [GRCh38]
Chr9:139405210 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance|not provided |
| NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001084013]|Aortic valve disease 1 [RCV000608304]|Aortic valve disease 1 [RCV001027797]|Connective tissue disorder [RCV000660154]|Familial thoracic aortic aneurysm and aortic dissection [RCV000143938]|not provided [RCV000727058]|not specified [RCV000121671] |
Chr9:136510659 [GRCh38]
Chr9:139405111 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_017617.5(NOTCH1):c.2981A>G (p.Asn994Ser) |
single nucleotide variant |
not specified [RCV000121672] |
Chr9:136509060 [GRCh38]
Chr9:139403512 [GRCh37]
Chr9:9q34.3 |
not provided |
| NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000232532]|Aortic valve disease 1 [RCV002269851]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769618]|NOTCH1-related condition [RCV003965023]|not provided [RCV001573152]|not specified [RCV000121673] |
Chr9:136544100 [GRCh38]
Chr9:139438552 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|not provided |
| NM_017617.5(NOTCH1):c.3192C>G (p.Asp1064Glu) |
single nucleotide variant |
not specified [RCV000121674] |
Chr9:136508365 [GRCh38]
Chr9:139402817 [GRCh37]
Chr9:9q34.3 |
not provided |
| NM_017617.5(NOTCH1):c.3211G>A (p.Gly1071Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001854665]|Aortic valve disease 1 [RCV002269852]|not provided [RCV001753503]|not specified [RCV000121675] |
Chr9:136508346 [GRCh38]
Chr9:139402798 [GRCh37]
Chr9:9q34.3 |
uncertain significance|not provided |
| NM_017617.5(NOTCH1):c.3401A>G (p.Gln1134Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000539156]|Aortic valve disease 1 [RCV002269853]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313935]|not provided [RCV001564352]|not specified [RCV000121676] |
Chr9:136508064 [GRCh38]
Chr9:139402516 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|not provided |
| NM_017617.5(NOTCH1):c.3338C>T (p.Ala1113Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001246312]|Aortic valve disease 1 [RCV002269854]|Aortic valve disease 1 [RCV002505065]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313936]|not specified [RCV000121677] |
Chr9:136508127 [GRCh38]
Chr9:139402579 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_017617.5(NOTCH1):c.3598G>A (p.Asp1200Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655259]|not provided [RCV002509228]|not specified [RCV000121678] |
Chr9:136507350 [GRCh38]
Chr9:139401802 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance|not provided |
| NM_017617.5(NOTCH1):c.3767C>T (p.Pro1256Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000988296]|Aortic valve disease 1 [RCV002269855]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770632]|not provided [RCV003430678]|not specified [RCV000121679] |
Chr9:136506850 [GRCh38]
Chr9:139401302 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|not provided |
| NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000229594]|Aortic valve disease 1 [RCV002269856]|Aortic valve disease 1 [RCV002492434]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313937]|Hypoplastic left heart syndrome [RCV001291515]|not provided [RCV001699039]|not specified [RCV000121680] |
Chr9:136506781 [GRCh38]
Chr9:139401233 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance|not provided |
| NM_017617.5(NOTCH1):c.4014G>A (p.Ala1338=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001087168]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313938]|not provided [RCV000727323]|not specified [RCV000121681] |
Chr9:136506527 [GRCh38]
Chr9:139400979 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000988295]|Aortic valve disease 1 [RCV002269857]|Connective tissue disorder [RCV000660161]|Familial thoracic aortic aneurysm and aortic dissection [RCV001171105]|not provided [RCV001573614]|not specified [RCV000121682] |
Chr9:136505868 [GRCh38]
Chr9:139400320 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|not provided |
| NM_017617.5(NOTCH1):c.4066C>T (p.Arg1356Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001201674]|Aortic valve disease 1 [RCV002269858]|not provided [RCV000658393]|not specified [RCV000121683] |
Chr9:136505830 [GRCh38]
Chr9:139400282 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000230241]|Aortic valve disease 1 [RCV002269859]|Aortic valve disease 1 [RCV002505066]|Familial thoracic aortic aneurysm and aortic dissection [RCV002312813]|Myeloproliferative neoplasm, unclassifiable [RCV002284189]|not provided [RCV003114267]|not specified [RCV000121684] |
Chr9:136505767 [GRCh38]
Chr9:139400219 [GRCh37]
Chr9:9q34.3 |
pathogenic|benign|likely benign|no classifications from unflagged records|not provided |
| NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000525275]|Aortic valve disease 1 [RCV002055371]|Connective tissue disorder [RCV000660162]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798385]|Heart, malformation of [RCV001836733]|NOTCH1-related condition [RCV003945096]|not provided [RCV001562831]|not specified [RCV000121685] |
Chr9:136505728 [GRCh38]
Chr9:139400180 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_017617.5(NOTCH1):c.4276C>T (p.His1426Tyr) |
single nucleotide variant |
not specified [RCV000121686] |
Chr9:136505620 [GRCh38]
Chr9:139400072 [GRCh37]
Chr9:9q34.3 |
not provided |
| NM_017617.5(NOTCH1):c.4049G>T (p.Arg1350Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000474130]|Connective tissue disorder [RCV000680588]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770629]|NOTCH1-related condition [RCV003965024]|not provided [RCV001719887]|not specified [RCV000121687] |
Chr9:136505847 [GRCh38]
Chr9:139400299 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_017617.5(NOTCH1):c.4222G>A (p.Glu1408Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000687309]|not specified [RCV000121688] |
Chr9:136505674 [GRCh38]
Chr9:139400126 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance|not provided |
| NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000227779]|Aortic valve disease 1 [RCV002269860]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770625]|not provided [RCV000424103]|not specified [RCV000121689] |
Chr9:136504868 [GRCh38]
Chr9:139399320 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|not provided |
| NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000233898]|Aortic valve disease 1 [RCV002269861]|Aortic valve disease 1 [RCV002492435]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769596]|not provided [RCV003430679]|not specified [RCV000121690] |
Chr9:136504680 [GRCh38]
Chr9:139399132 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|not provided |
| NM_017617.5(NOTCH1):c.5015G>A (p.Arg1672His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000806389]|not specified [RCV000121691] |
Chr9:136504676 [GRCh38]
Chr9:139399128 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance|not provided |
| NM_017617.5(NOTCH1):c.311A>G (p.Asn104Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000228385]|Aortic valve disease 1 [RCV002269862]|Connective tissue disorder [RCV000660138]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170714]|NOTCH1-related condition [RCV003905161]|not provided [RCV003422001]|not specified [RCV000121692] |
Chr9:136523809 [GRCh38]
Chr9:139418261 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|not provided |
| NM_017617.5(NOTCH1):c.361A>G (p.Thr121Ala) |
single nucleotide variant |
not specified [RCV000121693] |
Chr9:136523759 [GRCh38]
Chr9:139418211 [GRCh37]
Chr9:9q34.3 |
not provided |
| NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000226352]|Aortic valve disease 1 [RCV002269863]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170713]|NOTCH1-related condition [RCV003925201]|not provided [RCV001572783]|not specified [RCV000121694] |
Chr9:136523752 [GRCh38]
Chr9:139418204 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|not provided |
| NM_017617.5(NOTCH1):c.7648A>G (p.Ile2550Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000536903]|Aortic valve disease 1 [RCV002269864]|Aortic valve disease 1 [RCV002483223]|Familial thoracic aortic aneurysm and aortic dissection [RCV002390272]|NOTCH1-related condition [RCV003945097]|Pulmonary arterial hypertension [RCV002285141]|not provided [RCV001697074]|not specified [RCV000121695] |
Chr9:136496091 [GRCh38]
Chr9:139390543 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|not provided |
| NM_017617.5(NOTCH1):c.6409C>T (p.Pro2137Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001441642]|Familial thoracic aortic aneurysm and aortic dissection [RCV002312814]|NOTCH1-related condition [RCV003975083]|not provided [RCV000468297]|not specified [RCV000121696] |
Chr9:136497330 [GRCh38]
Chr9:139391782 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance|not provided |
| NM_017617.5(NOTCH1):c.7400C>T (p.Ser2467Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001462061]|Familial thoracic aortic aneurysm and aortic dissection [RCV000143942]|not provided [RCV001545848]|not specified [RCV000121697] |
Chr9:136496339 [GRCh38]
Chr9:139390791 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance|not provided |
| NM_017617.5(NOTCH1):c.7645C>T (p.Arg2549Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001417381]|Familial thoracic aortic aneurysm and aortic dissection [RCV002312815]|not provided [RCV001588969]|not specified [RCV000121698] |
Chr9:136496094 [GRCh38]
Chr9:139390546 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance|not provided |
| NM_017617.5(NOTCH1):c.6454G>C (p.Gly2152Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000470160]|Aortic valve disease 1 [RCV002269865]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769587]|not specified [RCV000121699] |
Chr9:136497285 [GRCh38]
Chr9:139391737 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|not provided |
| NM_017617.5(NOTCH1):c.6536G>A (p.Arg2179Gln) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655246]|not specified [RCV000121700] |
Chr9:136497203 [GRCh38]
Chr9:139391655 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance|not provided |
| NM_017617.5(NOTCH1):c.6733G>A (p.Gly2245Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000539993]|Connective tissue disorder [RCV000660177]|not provided [RCV001537847]|not specified [RCV000121701] |
Chr9:136497006 [GRCh38]
Chr9:139391458 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance|not provided |
| NM_017617.5(NOTCH1):c.6769G>A (p.Ala2257Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000815941]|not specified [RCV000121702] |
Chr9:136496970 [GRCh38]
Chr9:139391422 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance|not provided |
| NM_017617.5(NOTCH1):c.6788G>A (p.Arg2263Gln) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000662263]|Aortic valve disease 1 [RCV001335847]|Familial thoracic aortic aneurysm and aortic dissection [RCV002362750]|NOTCH1-related condition [RCV003915213]|not provided [RCV001577624]|not specified [RCV000121703] |
Chr9:136496951 [GRCh38]
Chr9:139391403 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000463376]|Aortic valve disease 1 [RCV002269866]|Familial thoracic aortic aneurysm and aortic dissection [RCV002312816]|Hypoplastic left heart syndrome [RCV001291517]|not provided [RCV001573999]|not specified [RCV000121704] |
Chr9:136496886 [GRCh38]
Chr9:139391338 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance|not provided |
| NM_017617.5(NOTCH1):c.6898G>A (p.Gly2300Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655236]|not specified [RCV000121705] |
Chr9:136496841 [GRCh38]
Chr9:139391293 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance|not provided |
| NM_017617.5(NOTCH1):c.6980G>A (p.Arg2327Gln) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000475178]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170917]|NOTCH1-related condition [RCV003925202]|not provided [RCV001567097]|not specified [RCV000121706] |
Chr9:136496759 [GRCh38]
Chr9:139391211 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_017617.5(NOTCH1):c.6991G>A (p.Ala2331Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000230734]|Aortic valve disease 1 [RCV002269867]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769580]|not specified [RCV000121707] |
Chr9:136496748 [GRCh38]
Chr9:139391200 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|not provided |
| NM_017617.5(NOTCH1):c.608G>A (p.Arg203His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001087556]|Aortic valve disease 1 [RCV002269868]|Familial thoracic aortic aneurysm and aortic dissection [RCV002354306]|not provided [RCV000841472]|not specified [RCV000121708] |
Chr9:136522984 [GRCh38]
Chr9:139417436 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance|not provided |
| NM_017617.5(NOTCH1):c.701G>A (p.Arg234His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000234727]|Connective tissue disorder [RCV000660139]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769613]|NOTCH1-related condition [RCV003945098]|not specified [RCV000121709] |
Chr9:136522891 [GRCh38]
Chr9:139417343 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_017617.5(NOTCH1):c.826G>A (p.Val276Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001237666]|Aortic valve disease 1 [RCV002269869]|Aortic valve disease 1 [RCV002483224]|NOTCH1-related condition [RCV003407520]|not provided [RCV001562983]|not specified [RCV000121710] |
Chr9:136519482 [GRCh38]
Chr9:139413934 [GRCh37]
Chr9:9q34.3 |
uncertain significance|not provided |
| NM_017617.5(NOTCH1):c.2263_2265del (p.Asn755del) |
deletion |
Adams-Oliver syndrome 5 [RCV000557976]|Adams-Oliver syndrome [RCV002508923]|Aortic valve disease 1 [RCV002269849]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313934]|not provided [RCV001545334]|not specified [RCV000121664] |
Chr9:136513480..136513482 [GRCh38]
Chr9:139407932..139407934 [GRCh37]
Chr9:9q34.3 |
uncertain significance|not provided |
| NM_017617.5(NOTCH1):c.2377_2379del (p.Asn793del) |
deletion |
Adams-Oliver syndrome 5 [RCV002514647]|not specified [RCV000121666] |
Chr9:136513109..136513111 [GRCh38]
Chr9:139407561..139407563 [GRCh37]
Chr9:9q34.3 |
uncertain significance|not provided |
| NM_017617.5(NOTCH1):c.5167+142A>C |
single nucleotide variant |
not specified [RCV000119863] |
Chr9:136503040 [GRCh38]
Chr9:139397492 [GRCh37]
Chr9:9q34.3 |
not provided |
| NM_017617.5(NOTCH1):c.5167+115G>A |
single nucleotide variant |
not specified [RCV000119864] |
Chr9:136503067 [GRCh38]
Chr9:139397519 [GRCh37]
Chr9:9q34.3 |
not provided |
| NM_017617.5(NOTCH1):c.5167+114C>T |
single nucleotide variant |
not specified [RCV000119865] |
Chr9:136503068 [GRCh38]
Chr9:139397520 [GRCh37]
Chr9:9q34.3 |
not provided |
| NM_017617.5(NOTCH1):c.5167+108C>T |
single nucleotide variant |
not specified [RCV000119866] |
Chr9:136503074 [GRCh38]
Chr9:139397526 [GRCh37]
Chr9:9q34.3 |
not provided |
| NM_017617.5(NOTCH1):c.5167+73G>A |
single nucleotide variant |
not specified [RCV000119867] |
Chr9:136503109 [GRCh38]
Chr9:139397561 [GRCh37]
Chr9:9q34.3 |
not provided |
| NM_017617.5(NOTCH1):c.5167+162G>A |
single nucleotide variant |
not specified [RCV000119862] |
Chr9:136503020 [GRCh38]
Chr9:139397472 [GRCh37]
Chr9:9q34.3 |
not provided |
| NM_017617.5(NOTCH1):c.5167+174G>A |
single nucleotide variant |
not specified [RCV000119861] |
Chr9:136503008 [GRCh38]
Chr9:139397460 [GRCh37]
Chr9:9q34.3 |
not provided |
| NM_017617.5(NOTCH1):c.5167+189C>G |
single nucleotide variant |
not specified [RCV000119860] |
Chr9:136502993 [GRCh38]
Chr9:139397445 [GRCh37]
Chr9:9q34.3 |
not provided |
| NM_017617.5(NOTCH1):c.5167+189delinsGG |
indel |
not specified [RCV000119859] |
Chr9:136502993 [GRCh38]
Chr9:139397445 [GRCh37]
Chr9:9q34.3 |
not provided |
| NM_017617.5(NOTCH1):c.5167+208C>T |
single nucleotide variant |
not provided [RCV000838330]|not specified [RCV000119858] |
Chr9:136502974 [GRCh38]
Chr9:139397426 [GRCh37]
Chr9:9q34.3 |
benign|not provided |
| NM_017617.5(NOTCH1):c.5167+228T>G |
single nucleotide variant |
not provided [RCV001576657]|not specified [RCV000119857] |
Chr9:136502954 [GRCh38]
Chr9:139397406 [GRCh37]
Chr9:9q34.3 |
likely benign|not provided |
| NM_017617.5(NOTCH1):c.6150C>T (p.Asn2050=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001445651]|Aortic valve disease 1 [RCV002270780]|not provided [RCV001718916] |
Chr9:136498929 [GRCh38]
Chr9:139393381 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.563T>C (p.Leu188Pro) |
single nucleotide variant |
not provided [RCV002288031] |
Chr9:136523029 [GRCh38]
Chr9:139417481 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.3:c.-84242_61+558del84861 |
deletion |
ADAMS-OLIVER SYNDROME 5 [RCV000144232] |
Chr9:136545168..136630028 [GRCh38]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.5965G>A (p.Asp1989Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000144233] |
Chr9:136499229 [GRCh38]
Chr9:139393681 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_017617.5(NOTCH1):c.743-1G>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000144234] |
Chr9:136519566 [GRCh38]
Chr9:139414018 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_017617.5(NOTCH1):c.1285T>C (p.Cys429Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000144235] |
Chr9:136517908 [GRCh38]
Chr9:139412360 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_017617.5(NOTCH1):c.6253G>C (p.Ala2085Pro) |
single nucleotide variant |
not provided [RCV000171428] |
Chr9:136497486 [GRCh38]
Chr9:139391938 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.2769A>G (p.Thr923=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000233036]|Aortic valve disease 1 [RCV002269935]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314605]|not specified [RCV000175337] |
Chr9:136509933 [GRCh38]
Chr9:139404385 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.6200T>C (p.Leu2067Pro) |
single nucleotide variant |
not provided [RCV000171429] |
Chr9:136497539 [GRCh38]
Chr9:139391991 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NC_000009.11:g.139414018G>T |
single nucleotide variant |
Adams-Oliver syndrome 1 [RCV000148349] |
Chr9:139414018 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NC_000009.11:g.139412360T>C |
single nucleotide variant |
Adams-Oliver syndrome 1 [RCV000148351] |
Chr9:139412360 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NC_000009.11:g.139393681G>A |
single nucleotide variant |
Adams-Oliver syndrome 1 [RCV000148352] |
Chr9:139393681 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.5168-10G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000234280]|Aortic valve disease 1 [RCV002269953]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769594]|NOTCH1-related condition [RCV003977446]|not specified [RCV000176887] |
Chr9:136502498 [GRCh38]
Chr9:139396950 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.426C>A (p.Asp142Glu) |
single nucleotide variant |
not provided [RCV003159451] |
Chr9:136523166 [GRCh38]
Chr9:139417618 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6777T>C (p.Gly2259=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000234317]|Aortic valve disease 1 [RCV002269961]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769583]|NOTCH1-related condition [RCV003907608]|not specified [RCV000177800] |
Chr9:136496962 [GRCh38]
Chr9:139391414 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.711C>T (p.Gly237=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000228554]|Aortic valve disease 1 [RCV002269962]|Aortic valve disease 1 [RCV002492781]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310743]|not provided [RCV003736622]|not specified [RCV000178308] |
Chr9:136522881 [GRCh38]
Chr9:139417333 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.1077C>A (p.Cys359Ter) |
single nucleotide variant |
Hypoplastic left heart syndrome [RCV001291512] |
Chr9:136518613 [GRCh38]
Chr9:139413065 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.7178A>G (p.Gln2393Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748337]|Hypoplastic left heart syndrome [RCV001291518] |
Chr9:136496561 [GRCh38]
Chr9:139391013 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2021T>C (p.Met674Thr) |
single nucleotide variant |
Aortic valve disease 1 [RCV000143937] |
Chr9:136514696 [GRCh38]
Chr9:139409148 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2812C>T (p.Arg938Trp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001497513]|Familial thoracic aortic aneurysm and aortic dissection [RCV000143939]|not provided [RCV000492876] |
Chr9:136509890 [GRCh38]
Chr9:139404342 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.3901+3G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000864876]|Aortic valve disease 1 [RCV002269926]|Connective tissue disorder [RCV000660160]|Familial thoracic aortic aneurysm and aortic dissection [RCV000143941]|Marfan syndrome [RCV000143940]|not provided [RCV001719910] |
Chr9:136506713 [GRCh38]
Chr9:139401165 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5168-79C>T |
single nucleotide variant |
not provided [RCV001572369] |
Chr9:136502567 [GRCh38]
Chr9:139397019 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4487G>A (p.Cys1496Tyr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000144236] |
Chr9:136505409 [GRCh38]
Chr9:139399861 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.2005G>C (p.Gly669Arg) |
single nucleotide variant |
not provided [RCV000174381] |
Chr9:136515299 [GRCh38]
Chr9:139409751 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) |
copy number gain |
See cases [RCV000133791] |
Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.2014+1G>A |
single nucleotide variant |
Heart, malformation of [RCV000128629] |
Chr9:136515289 [GRCh38]
Chr9:139409741 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.5061G>T (p.Gln1687His) |
single nucleotide variant |
Heart, malformation of [RCV000128630] |
Chr9:136503288 [GRCh38]
Chr9:139397740 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.5281del (p.Arg1761fs) |
deletion |
Heart, malformation of [RCV000128631] |
Chr9:136502375 [GRCh38]
Chr9:139396827 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3 |
copy number gain |
See cases [RCV000133778] |
Chr9:130513207..138124532 [GRCh38]
Chr9:133388594..141018984 [GRCh37]
Chr9:132378415..140138805 [NCBI36]
Chr9:9q34.11-34.3 |
pathogenic |
| GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3 |
copy number gain |
See cases [RCV000134916] |
Chr9:129068560..138179445 [GRCh38]
Chr9:131830839..141073897 [GRCh37]
Chr9:130870660..140193718 [NCBI36]
Chr9:9q34.11-34.3 |
pathogenic |
| GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 |
copy number gain |
See cases [RCV000134920] |
Chr9:121073102..138179445 [GRCh38]
Chr9:123835380..141073897 [GRCh37]
Chr9:122875201..140193718 [NCBI36]
Chr9:9q33.2-34.3 |
pathogenic |
| GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3 |
copy number gain |
See cases [RCV000136790] |
Chr9:132986903..138114463 [GRCh38]
Chr9:135862290..141008915 [GRCh37]
Chr9:134852111..140128736 [NCBI36]
Chr9:9q34.13-34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:136405220-136608638)x1 |
copy number loss |
See cases [RCV000137502] |
Chr9:136405220..136608638 [GRCh38]
Chr9:139299672..139503090 [GRCh37]
Chr9:138419493..138622911 [NCBI36]
Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3 |
copy number gain |
See cases [RCV000137825] |
Chr9:133504071..138159073 [GRCh38]
Chr9:136324358..141053525 [GRCh37]
Chr9:135314179..140173346 [NCBI36]
Chr9:9q34.2-34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 |
copy number gain |
See cases [RCV000138783] |
Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 |
copy number gain |
See cases [RCV000139207] |
Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 |
copy number gain |
See cases [RCV000138962] |
Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3 |
pathogenic|conflicting data from submitters |
| GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3 |
copy number gain |
See cases [RCV000139807] |
Chr9:133996227..138124524 [GRCh38]
Chr9:136861349..141018976 [GRCh37]
Chr9:135851170..140138797 [NCBI36]
Chr9:9q34.2-34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:136456142-136540904)x3 |
copy number gain |
See cases [RCV000140801] |
Chr9:136456142..136540904 [GRCh38]
Chr9:139350594..139435356 [GRCh37]
Chr9:138470415..138555177 [NCBI36]
Chr9:9q34.3 |
uncertain significance |
| GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 |
copy number gain |
See cases [RCV000141876] |
Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3 |
copy number gain |
See cases [RCV000142955] |
Chr9:133918071..138159073 [GRCh38]
Chr9:136783193..141053525 [GRCh37]
Chr9:135773014..140173346 [NCBI36]
Chr9:9q34.2-34.3 |
pathogenic |
| GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3 |
copy number gain |
See cases [RCV000142636] |
Chr9:132386553..138059695 [GRCh38]
Chr9:135261940..140954147 [GRCh37]
Chr9:134251761..140073968 [NCBI36]
Chr9:9q34.13-34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:135704780-138125937)x4 |
copy number gain |
See cases [RCV000143394] |
Chr9:135704780..138125937 [GRCh38]
Chr9:138596626..141020389 [GRCh37]
Chr9:137736447..140140210 [NCBI36]
Chr9:9q34.3 |
likely pathogenic |
| NC_000009.12:g.136545168_136630028del |
deletion |
Adams-Oliver syndrome 5 [RCV000144232] |
Chr9:136545168..136630028 [GRCh38]
Chr9:139439620..139524480 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 |
copy number gain |
See cases [RCV000143476] |
Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1 |
copy number loss |
See cases [RCV000148284] |
Chr9:136323974..138014606 [GRCh38]
Chr9:139218428..140909058 [GRCh37]
Chr9:138338249..140028879 [NCBI36]
Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 |
copy number gain |
See cases [RCV000148113] |
Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.2521G>A (p.Gly841Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001857555]|Aortic valve disease 1 [RCV002269928]|Arterial dissection [RCV000157394]|Familial thoracic aortic aneurysm and aortic dissection [RCV002426765]|not provided [RCV000426450] |
Chr9:136511218 [GRCh38]
Chr9:139405670 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.4971C>G (p.Ser1657Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000476688]|Aortic valve disease 1 [RCV002269929]|Familial thoracic aortic aneurysm and aortic dissection [RCV000157395]|not provided [RCV002253254] |
Chr9:136504720 [GRCh38]
Chr9:139399172 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.1100-8C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001084989]|NOTCH1-related condition [RCV003907630]|not provided [RCV000724764] |
Chr9:136518300 [GRCh38]
Chr9:139412752 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.2380del (p.Glu794fs) |
deletion |
Aortic valve disease 1 [RCV000198418] |
Chr9:136513108 [GRCh38]
Chr9:139407560 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.4775T>G (p.Phe1592Cys) |
single nucleotide variant |
Early T cell progenitor acute lymphoblastic leukemia [RCV000190416] |
Chr9:136504916 [GRCh38]
Chr9:139399368 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000204866]|Aortic valve disease 1 [RCV000602259]|Connective tissue disorder [RCV000660156]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770636]|not provided [RCV001705178]|not specified [RCV000420267] |
Chr9:136508263 [GRCh38]
Chr9:139402715 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.1345T>C (p.Cys449Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000205123] |
Chr9:136517848 [GRCh38]
Chr9:139412300 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.3171+9G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000205132]|not specified [RCV003323455] |
Chr9:136508861 [GRCh38]
Chr9:139403313 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.4120T>C (p.Cys1374Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000205222] |
Chr9:136505776 [GRCh38]
Chr9:139400228 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_017617.5(NOTCH1):c.5218G>T (p.Ala1740Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000205238]|Aortic valve disease 1 [RCV002270014] |
Chr9:136502438 [GRCh38]
Chr9:139396890 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3315G>T (p.Ala1105=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000205291]|Aortic valve disease 1 [RCV002270020]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770635]|not provided [RCV001723781]|not specified [RCV000612040] |
Chr9:136508242 [GRCh38]
Chr9:139402694 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.2664C>T (p.His888=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000205664]|Aortic valve disease 1 [RCV002270018]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310798]|not provided [RCV003736639]|not specified [RCV000299126] |
Chr9:136510729 [GRCh38]
Chr9:139405181 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.1220C>G (p.Pro407Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000205720]|Aortic valve disease 1 [RCV003137790] |
Chr9:136518172 [GRCh38]
Chr9:139412624 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.1367G>A (p.Cys456Tyr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000205841] |
Chr9:136517826 [GRCh38]
Chr9:139412278 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.4536C>T (p.Ala1512=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000206158]|Aortic valve disease 1 [RCV002270015]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770627]|NOTCH1-related condition [RCV003977571]|not provided [RCV001723778]|not specified [RCV000442941] |
Chr9:136505360 [GRCh38]
Chr9:139399812 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.4663G>T (p.Glu1555Ter) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000206255] |
Chr9:136505028 [GRCh38]
Chr9:139399480 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.4067G>A (p.Arg1356His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000206262] |
Chr9:136505829 [GRCh38]
Chr9:139400281 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1635C>T (p.Asp545=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000206348]|Aortic valve disease 1 [RCV002270017]|Aortic valve disease 1 [RCV002500659]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769606]|not provided [RCV003422112]|not specified [RCV000434406] |
Chr9:136516015 [GRCh38]
Chr9:139410467 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.6049_6050del (p.Ser2017fs) |
deletion |
Adams-Oliver syndrome 5 [RCV000206353] |
Chr9:136499144..136499145 [GRCh38]
Chr9:139393596..139393597 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.5175C>T (p.Thr1725=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000206483]|Aortic valve disease 1 [RCV002270016]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769593]|not provided [RCV001579878]|not specified [RCV000431633] |
Chr9:136502481 [GRCh38]
Chr9:139396933 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.1649dup (p.Tyr550Ter) |
duplication |
Adams-Oliver syndrome 5 [RCV000203698] |
Chr9:136516000..136516001 [GRCh38]
Chr9:139410452..139410453 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.2691C>T (p.Ala897=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000206753]|Aortic valve disease 1 [RCV002270019]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310799]|not provided [RCV001723780]|not specified [RCV000287658] |
Chr9:136510702 [GRCh38]
Chr9:139405154 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.1343G>A (p.Arg448Gln) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000203986] |
Chr9:136517850 [GRCh38]
Chr9:139412302 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.4739dup (p.Met1580fs) |
duplication |
Adams-Oliver syndrome 5 [RCV000204161] |
Chr9:136504951..136504952 [GRCh38]
Chr9:139399403..139399404 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.6422C>T (p.Ser2141Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000804474]|Aortic valve disease 1 [RCV002270024]|Familial thoracic aortic aneurysm and aortic dissection [RCV000208147] |
Chr9:136497317 [GRCh38]
Chr9:139391769 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.695C>A (p.Thr232Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002515549]|Ehlers-Danlos syndrome, type 3 [RCV000208268] |
Chr9:136522897 [GRCh38]
Chr9:139417349 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2727C>T (p.Asp909=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000543256]|Familial thoracic aortic aneurysm and aortic dissection [RCV002456267] |
Chr9:136510666 [GRCh38]
Chr9:139405118 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5014C>T (p.Arg1672Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002517402]|Aortic valve disease 1 [RCV000208387] |
Chr9:136504677 [GRCh38]
Chr9:139399129 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1342C>T (p.Arg448Ter) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748207]|Familial thoracic aortic aneurysm and aortic dissection [RCV000208487] |
Chr9:136517851 [GRCh38]
Chr9:139412303 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic |
| NM_017617.5(NOTCH1):c.6284G>A (p.Arg2095His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000545147]|Familial thoracic aortic aneurysm and aortic dissection [RCV003159949] |
Chr9:136497455 [GRCh38]
Chr9:139391907 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.68G>T (p.Arg23Leu) |
single nucleotide variant |
Anophthalmia-microphthalmia syndrome [RCV000207428] |
Chr9:136544096 [GRCh38]
Chr9:139438548 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2434G>A (p.Gly812Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001450102]|Anophthalmia-microphthalmia syndrome [RCV000207430]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315640]|NOTCH1-related condition [RCV003917851]|not provided [RCV000540543] |
Chr9:136513054 [GRCh38]
Chr9:139407506 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001060006]|Aortic valve disease 1 [RCV002270023]|Aortic valve disease 1 [RCV002500668]|Familial thoracic aortic aneurysm and aortic dissection [RCV002363043]|Marfan syndrome [RCV000208466]|not provided [RCV001509385]|not specified [RCV003401116] |
Chr9:136497534 [GRCh38]
Chr9:139391986 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.1676C>T (p.Thr559Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001064894]|Aortic valve disease 1 [RCV002271178]|not provided [RCV001551775] |
Chr9:136515710 [GRCh38]
Chr9:139410162 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000229557]|Aortic valve disease 1 [RCV002270055]|Connective tissue disorder [RCV000660175]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313954]|NOTCH1-related condition [RCV003919975]|not provided [RCV001726067]|not specified [RCV000293191] |
Chr9:136499206 [GRCh38]
Chr9:139393658 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_017617.5(NOTCH1):c.2712C>T (p.Cys904=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000229780]|Familial thoracic aortic aneurysm and aortic dissection [RCV002429131] |
Chr9:136510681 [GRCh38]
Chr9:139405133 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6870C>T (p.Ser2290=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000227887]|Aortic valve disease 1 [RCV002270060]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769581]|NOTCH1-related condition [RCV003977681]|not provided [RCV001727652]|not specified [RCV000435657] |
Chr9:136496869 [GRCh38]
Chr9:139391321 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.2951C>T (p.Thr984Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000227995] |
Chr9:136509751 [GRCh38]
Chr9:139404203 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5676G>A (p.Gly1892=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000230010]|Aortic valve disease 1 [RCV002270051]|Familial thoracic aortic aneurysm and aortic dissection [RCV001171093]|not provided [RCV001697265]|not specified [RCV003330600] |
Chr9:136500810 [GRCh38]
Chr9:139395262 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000230290]|Aortic valve disease 1 [RCV002270049]|Aortic valve disease 1 [RCV002500804]|Connective tissue disorder [RCV000660171]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769595]|not provided [RCV001723823]|not specified [RCV000430521] |
Chr9:136503225 [GRCh38]
Chr9:139397677 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.5226C>T (p.Ala1742=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000228130]|Aortic valve disease 1 [RCV002270050]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769592]|not provided [RCV001723824]|not specified [RCV000420932] |
Chr9:136502430 [GRCh38]
Chr9:139396882 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.3109C>G (p.Gln1037Glu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000230547]|Inborn genetic diseases [RCV003258713] |
Chr9:136508932 [GRCh38]
Chr9:139403384 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2207+10G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000228731]|Aortic valve disease 1 [RCV002270035]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170162]|not provided [RCV000426893]|not specified [RCV001579649] |
Chr9:136514500 [GRCh38]
Chr9:139408952 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|benign|likely benign |
| NM_017617.5(NOTCH1):c.7279G>A (p.Gly2427Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000228959]|Aortic valve disease 1 [RCV002270062]|not provided [RCV000788485] |
Chr9:136496460 [GRCh38]
Chr9:139390912 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.1293C>T (p.Asn431=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001423730] |
Chr9:136517900 [GRCh38]
Chr9:139412352 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2743C>G (p.Pro915Ala) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000231293]|Inborn genetic diseases [RCV003278714] |
Chr9:136509959 [GRCh38]
Chr9:139404411 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2388G>A (p.Ala796=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000231578]|Aortic valve disease 1 [RCV002270036]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770640]|not provided [RCV001572372]|not specified [RCV003987470] |
Chr9:136513100 [GRCh38]
Chr9:139407552 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.6376G>A (p.Gly2126Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000229962]|Familial thoracic aortic aneurysm and aortic dissection [RCV002365212]|not provided [RCV002225529] |
Chr9:136497363 [GRCh38]
Chr9:139391815 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.7338G>A (p.Leu2446=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000231798]|Aortic valve disease 1 [RCV002270063]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313956]|NOTCH1-related condition [RCV003907891]|not specified [RCV000601328] |
Chr9:136496401 [GRCh38]
Chr9:139390853 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.5471G>A (p.Arg1824Gln) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000232106] |
Chr9:136502002 [GRCh38]
Chr9:139396454 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.663C>T (p.Pro221=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000230337]|Aortic valve disease 1 [RCV002270059]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769614]|not specified [RCV000602843] |
Chr9:136522929 [GRCh38]
Chr9:139417381 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.743-4G>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000232196]|Aortic valve disease 1 [RCV002270066]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313958]|not provided [RCV001697266]|not specified [RCV003323471] |
Chr9:136519569 [GRCh38]
Chr9:139414021 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.4827C>T (p.Asp1609=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000230616]|Aortic valve disease 1 [RCV002270046]|Familial thoracic aortic aneurysm and aortic dissection [RCV001171102]|NOTCH1-related condition [RCV003929990]|not specified [RCV000603497] |
Chr9:136504864 [GRCh38]
Chr9:139399316 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.17_18delinsTT (p.Ala6Val) |
indel |
Adams-Oliver syndrome 5 [RCV000230821]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769619]|not provided [RCV001697683] |
Chr9:136545769..136545770 [GRCh38]
Chr9:139440221..139440222 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.3835C>T (p.Arg1279Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001088972]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798740]|NOTCH1-related condition [RCV003947790]|not provided [RCV000484160] |
Chr9:136506782 [GRCh38]
Chr9:139401234 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.3198G>A (p.Ser1066=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000230983]|Aortic valve disease 1 [RCV002270041]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770638]|not provided [RCV000606980]|not specified [RCV003479076] |
Chr9:136508359 [GRCh38]
Chr9:139402811 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.4971C>T (p.Ser1657=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000231030]|Aortic valve disease 1 [RCV002270047]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313952]|not provided [RCV001697684] |
Chr9:136504720 [GRCh38]
Chr9:139399172 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|benign|likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.7515T>G (p.Pro2505=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000226039]|Aortic valve disease 1 [RCV002270067]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769574]|not provided [RCV003736665]|not specified [RCV000611404] |
Chr9:136496224 [GRCh38]
Chr9:139390676 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.5605G>T (p.Ala1869Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000226317] |
Chr9:136501781 [GRCh38]
Chr9:139396233 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.256G>T (p.Ala86Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000233097] |
Chr9:136523864 [GRCh38]
Chr9:139418316 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3644-4G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000231657]|Aortic valve disease 1 [RCV002270044]|Connective tissue disorder [RCV000660158]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313950]|NOTCH1-related condition [RCV003955359]|not provided [RCV001580003]|not specified [RCV003330599] |
Chr9:136506977 [GRCh38]
Chr9:139401429 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|benign|likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5679C>T (p.Gly1893=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000231737]|Aortic valve disease 1 [RCV002270052]|Aortic valve disease 1 [RCV002500805]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313953]|not provided [RCV003736664]|not specified [RCV000438044] |
Chr9:136500807 [GRCh38]
Chr9:139395259 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.7390C>T (p.Leu2464=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000226495]|Aortic valve disease 1 [RCV002270064]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313957]|not provided [RCV001697590] |
Chr9:136496349 [GRCh38]
Chr9:139390801 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.5715C>T (p.Asp1905=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002270054]|Aortic valve disease 1 [RCV002270053]|Familial thoracic aortic aneurysm and aortic dissection [RCV002347909]|not provided [RCV000839775] |
Chr9:136500771 [GRCh38]
Chr9:139395223 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|likely benign |
| NM_017617.5(NOTCH1):c.4828G>T (p.Ala1610Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000233482]|Familial thoracic aortic aneurysm and aortic dissection [RCV002327142] |
Chr9:136504863 [GRCh38]
Chr9:139399315 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3768G>T (p.Pro1256=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001467908] |
Chr9:136506849 [GRCh38]
Chr9:139401301 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7209G>A (p.Gln2403=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000232262]|Aortic valve disease 1 [RCV002270061]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769578]|not specified [RCV000433777] |
Chr9:136496530 [GRCh38]
Chr9:139390982 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.5561G>A (p.Arg1854His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000232476]|Familial thoracic aortic aneurysm and aortic dissection [RCV002347908] |
Chr9:136501825 [GRCh38]
Chr9:139396277 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.62-8C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000227116]|Aortic valve disease 1 [RCV002270057]|Familial thoracic aortic aneurysm and aortic dissection [RCV003485567]|not specified [RCV000430700] |
Chr9:136544110 [GRCh38]
Chr9:139438562 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.3271G>A (p.Gly1091Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000233859]|Aortic valve disease 1 [RCV002270042]|Familial thoracic aortic aneurysm and aortic dissection [RCV002444917]|not provided [RCV001589195] |
Chr9:136508286 [GRCh38]
Chr9:139402738 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.7250C>T (p.Pro2417Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000233982]|not provided [RCV003126646] |
Chr9:136496489 [GRCh38]
Chr9:139390941 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2724C>T (p.Ile908=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000232649]|Aortic valve disease 1 [RCV002270039]|Familial thoracic aortic aneurysm and aortic dissection [RCV002450703]|not provided [RCV001533945] |
Chr9:136510669 [GRCh38]
Chr9:139405121 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.432C>T (p.Cys144=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000232818]|Aortic valve disease 1 [RCV002270045]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170712]|not provided [RCV001573043]|not specified [RCV000428430] |
Chr9:136523160 [GRCh38]
Chr9:139417612 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.6593C>T (p.Ser2198Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000227496]|Aortic valve disease 1 [RCV002270058]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313955] |
Chr9:136497146 [GRCh38]
Chr9:139391598 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.3114C>T (p.Asp1038=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000234548]|Aortic valve disease 1 [RCV002270040]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313949]|not provided [RCV003422153] |
Chr9:136508927 [GRCh38]
Chr9:139403379 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6105C>T (p.Ala2035=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000233274]|Aortic valve disease 1 [RCV002270056]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170923]|not provided [RCV001579505]|not specified [RCV003323470] |
Chr9:136498974 [GRCh38]
Chr9:139393426 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.1122C>T (p.Asp374=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000227593]|Aortic valve disease 1 [RCV002270030]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313946]|not provided [RCV001705279]|not specified [RCV000596170] |
Chr9:136518270 [GRCh38]
Chr9:139412722 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_017617.5(NOTCH1):c.5073G>A (p.Gln1691=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000227744]|Aortic valve disease 1 [RCV002270048]|Connective tissue disorder [RCV000660170]|Familial thoracic aortic aneurysm and aortic dissection [RCV001171098]|not provided [RCV001579392]|not specified [RCV000418388] |
Chr9:136503276 [GRCh38]
Chr9:139397728 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_017617.5(NOTCH1):c.2604C>T (p.Val868=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000225801]|Aortic valve disease 1 [RCV002270038]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313948]|not provided [RCV001705281]|not specified [RCV000591259] |
Chr9:136510789 [GRCh38]
Chr9:139405241 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.1077C>T (p.Cys359=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000233763]|not provided [RCV001354684] |
Chr9:136518613 [GRCh38]
Chr9:139413065 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000228362]|Aortic valve disease 1 [RCV002270033]|Aortic valve disease 1 [RCV002479924]|Connective tissue disorder [RCV000660147]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769599]|NOTCH1-related condition [RCV003955358]|not provided [RCV001532187]|not specified [RCV000429504] |
Chr9:136514668 [GRCh38]
Chr9:139409120 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.2205C>T (p.Asn735=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000226163]|Aortic valve disease 1 [RCV002270034]|Aortic valve disease 1 [RCV002500803]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310825]|not provided [RCV003736662]|not specified [RCV000421870] |
Chr9:136514512 [GRCh38]
Chr9:139408964 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.4096G>A (p.Gly1366Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000226269]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313951]|NOTCH1-related condition [RCV003947791]|not provided [RCV003736663]|not specified [RCV000616273] |
Chr9:136505800 [GRCh38]
Chr9:139400252 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1511G>A (p.Arg504His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000234132]|Aortic valve disease 1 [RCV002270031]|Familial thoracic aortic aneurysm and aortic dissection [RCV002392713]|NOTCH1-related condition [RCV003907889]|not provided [RCV001705280]|not specified [RCV000597266] |
Chr9:136517316 [GRCh38]
Chr9:139411768 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.5535_5536delinsAA (p.Gln1846Lys) |
indel |
Adams-Oliver syndrome 5 [RCV000228495] |
Chr9:136501850..136501851 [GRCh38]
Chr9:139396302..139396303 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3333C>T (p.Asp1111=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000228817]|Aortic valve disease 1 [RCV002270043]|Connective tissue disorder [RCV000660157]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770634]|not provided [RCV002292494]|not specified [RCV000357716] |
Chr9:136508132 [GRCh38]
Chr9:139402584 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
| NM_017617.5(NOTCH1):c.2496G>T (p.Pro832=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000226548]|Aortic valve disease 1 [RCV002270037]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313947]|NOTCH1-related condition [RCV003907890]|not provided [RCV001722261]|not specified [RCV003323469] |
Chr9:136511243 [GRCh38]
Chr9:139405695 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.5505C>T (p.Asp1835=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000234664]|Familial thoracic aortic aneurysm and aortic dissection [RCV002347907] |
Chr9:136501881 [GRCh38]
Chr9:139396333 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1665G>A (p.Thr555=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000229094]|Aortic valve disease 1 [RCV002270032]|Aortic valve disease 1 [RCV002500802]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769605]|not provided [RCV003114400]|not specified [RCV000440854] |
Chr9:136515985 [GRCh38]
Chr9:139410437 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.7397C>T (p.Thr2466Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000229341]|Aortic valve disease 1 [RCV002270065]|Familial thoracic aortic aneurysm and aortic dissection [RCV002379017]|NOTCH1-related condition [RCV003417833]|not provided [RCV000493754] |
Chr9:136496342 [GRCh38]
Chr9:139390794 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.4915G>A (p.Ala1639Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000227065] |
Chr9:136504776 [GRCh38]
Chr9:139399228 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6509G>A (p.Ser2170Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000526597]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769586]|not provided [RCV001544564]|not specified [RCV003403345] |
Chr9:136497230 [GRCh38]
Chr9:139391682 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.804C>T (p.Asn268=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000549126]|Familial thoracic aortic aneurysm and aortic dissection [RCV003159951] |
Chr9:136519504 [GRCh38]
Chr9:139413956 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.6851C>T (p.Thr2284Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001222420]|Aortic valve disease 1 [RCV002270924]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315143] |
Chr9:136496888 [GRCh38]
Chr9:139391340 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1295C>T (p.Thr432Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000687329]|Aortic valve disease 1 [RCV000764820]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315140]|not provided [RCV001662668] |
Chr9:136517898 [GRCh38]
Chr9:139412350 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.963C>T (p.Cys321=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000867381]|Aortic valve disease 1 [RCV002270822]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769611]|NOTCH1-related condition [RCV003905626]|not specified [RCV000606281] |
Chr9:136518727 [GRCh38]
Chr9:139413179 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.5398G>A (p.Ala1800Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001219139]|Aortic valve disease 1 [RCV002270876]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315076] |
Chr9:136502075 [GRCh38]
Chr9:139396527 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.4918G>A (p.Ala1640Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000544764]|Familial thoracic aortic aneurysm and aortic dissection [RCV002350401] |
Chr9:136504773 [GRCh38]
Chr9:139399225 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4798C>T (p.Leu1600=) |
single nucleotide variant |
not specified [RCV000603436] |
Chr9:136504893 [GRCh38]
Chr9:139399345 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4410C>T (p.His1470=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001487171]|Aortic valve disease 1 [RCV002270841]|Familial thoracic aortic aneurysm and aortic dissection [RCV002331072]|not provided [RCV001698407] |
Chr9:136505486 [GRCh38]
Chr9:139399938 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5103A>G (p.Ala1701=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001078670]|Aortic valve disease 1 [RCV002270700]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315054]|not provided [RCV000828009] |
Chr9:136503246 [GRCh38]
Chr9:139397698 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2352C>T (p.Ser784=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000547527]|Familial thoracic aortic aneurysm and aortic dissection [RCV002448806]|not provided [RCV001697385] |
Chr9:136513393 [GRCh38]
Chr9:139407845 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3510+3G>C |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001367883] |
Chr9:136507952 [GRCh38]
Chr9:139402404 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 |
copy number gain |
See cases [RCV000240081] |
Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.6594G>T (p.Ser2198=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748257]|not provided [RCV001698416] |
Chr9:136497145 [GRCh38]
Chr9:139391597 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2793C>T (p.Cys931=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002064226]|Aortic valve disease 1 [RCV002270835]|Familial thoracic aortic aneurysm and aortic dissection [RCV002438599]|not provided [RCV000863474] |
Chr9:136509909 [GRCh38]
Chr9:139404361 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.6597C>G (p.Pro2199=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000866749]|Aortic valve disease 1 [RCV002270754]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315909]|not provided [RCV001704743] |
Chr9:136497142 [GRCh38]
Chr9:139391594 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.5124G>A (p.Ser1708=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000862578]|Aortic valve disease 1 [RCV002270873]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315070] |
Chr9:136503225 [GRCh38]
Chr9:139397677 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6960G>A (p.Pro2320=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001398795]|Aortic valve disease 1 [RCV002270162]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310953] |
Chr9:136496779 [GRCh38]
Chr9:139391231 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1787C>T (p.Thr596Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001049180]|Aortic valve disease 1 [RCV000787043]|Connective tissue disorder [RCV000660144]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311202]|not provided [RCV001575577] |
Chr9:136515599 [GRCh38]
Chr9:139410051 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1701C>G (p.Ile567Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002518702]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310902] |
Chr9:136515685 [GRCh38]
Chr9:139410137 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4652G>T (p.Ser1551Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001365748]|Aortic valve disease 1 [RCV002270178]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311137] |
Chr9:136505039 [GRCh38]
Chr9:139399491 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.6222C>T (p.Tyr2074=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000473394]|Aortic valve disease 1 [RCV002270169]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310971]|not provided [RCV001697606] |
Chr9:136497517 [GRCh38]
Chr9:139391969 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.3970G>A (p.Val1324Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000863006]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311228]|not provided [RCV001541098] |
Chr9:136506571 [GRCh38]
Chr9:139401023 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.4251C>T (p.Pro1417=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001494216]|Familial thoracic aortic aneurysm and aortic dissection [RCV002329603] |
Chr9:136505645 [GRCh38]
Chr9:139400097 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3852C>T (p.Cys1284=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000530316]|Aortic valve disease 1 [RCV002270694]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315049]|not provided [RCV000830676] |
Chr9:136506765 [GRCh38]
Chr9:139401217 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.6228C>T (p.Thr2076=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001514004]|Aortic valve disease 1 [RCV002270174]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311112]|NOTCH1-related condition [RCV003967688]|not provided [RCV000864589] |
Chr9:136497511 [GRCh38]
Chr9:139391963 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.5776C>T (p.Arg1926Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000792055]|Aortic valve disease 1 [RCV002270183]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311169]|not provided [RCV000429642] |
Chr9:136500710 [GRCh38]
Chr9:139395162 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.1981G>A (p.Gly661Ser) |
single nucleotide variant |
Adams-Oliver syndrome 2 [RCV001535730]|Adams-Oliver syndrome 5 [RCV000555279]|Aortic valve disease 1 [RCV002272196]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311210]|Pulmonary arterial hypertension [RCV002285156]|not provided [RCV000519623] |
Chr9:136515323 [GRCh38]
Chr9:139409775 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance|not provided |
| NM_017617.5(NOTCH1):c.2068G>A (p.Gly690Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002270160]|Aortic valve disease 1 [RCV002270159]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310943]|not provided [RCV000788401] |
Chr9:136514649 [GRCh38]
Chr9:139409101 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1914C>T (p.Cys638=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000525839]|Aortic valve disease 1 [RCV002270191]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798760]|not provided [RCV003422187]|not specified [RCV000433084] |
Chr9:136515390 [GRCh38]
Chr9:139409842 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1038C>T (p.His346=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000460083]|Aortic valve disease 1 [RCV002270194]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170172]|not provided [RCV001697699] |
Chr9:136518652 [GRCh38]
Chr9:139413104 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.7291C>T (p.Arg2431Trp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001854978]|Aortic valve disease 1 [RCV002270158]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310938]|not provided [RCV003320625] |
Chr9:136496448 [GRCh38]
Chr9:139390900 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.558C>T (p.Pro186=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001078618]|Aortic valve disease 1 [RCV002270175]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798755]|not provided [RCV000842509] |
Chr9:136523034 [GRCh38]
Chr9:139417486 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6054C>T (p.His2018=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000875245]|Aortic valve disease 1 [RCV002270176]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311126] |
Chr9:136499140 [GRCh38]
Chr9:139393592 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.7289G>C (p.Gly2430Ala) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000471243]|Aortic valve disease 1 [RCV002270188]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311206]|not specified [RCV000423634] |
Chr9:136496450 [GRCh38]
Chr9:139390902 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.4626C>T (p.Asp1542=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000456873]|Aortic valve disease 1 [RCV002270190]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311209]|not specified [RCV000606907] |
Chr9:136505065 [GRCh38]
Chr9:139399517 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.4887C>T (p.His1629=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000456348]|Aortic valve disease 1 [RCV002270151]|Connective tissue disorder [RCV000660168]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770624]|NOTCH1-related condition [RCV003909882]|not provided [RCV001722374]|not specified [RCV003323479] |
Chr9:136504804 [GRCh38]
Chr9:139399256 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.2813G>A (p.Arg938Gln) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000544338]|Aortic valve disease 1 [RCV002270189]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311208]|not specified [RCV000601009] |
Chr9:136509889 [GRCh38]
Chr9:139404341 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.5500C>T (p.Leu1834=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000524749]|Aortic valve disease 1 [RCV002270166]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310964]|NOTCH1-related condition [RCV003947817]|not provided [RCV001580093]|not specified [RCV003330612] |
Chr9:136501886 [GRCh38]
Chr9:139396338 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.4078G>A (p.Gly1360Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002270153]|Aortic valve disease 1 [RCV002270152]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310901]|not provided [RCV000788669] |
Chr9:136505818 [GRCh38]
Chr9:139400270 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.3104C>T (p.Thr1035Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001854991]|Aortic valve disease 1 [RCV000764817]|Aortic valve disease 1 [RCV002270180]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311151] |
Chr9:136508937 [GRCh38]
Chr9:139403389 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3638C>G (p.Thr1213Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002518705]|Aortic valve disease 1 [RCV002494791]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310973] |
Chr9:136507310 [GRCh38]
Chr9:139401762 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1778C>T (p.Pro593Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001854980]|Aortic valve disease 1 [RCV002270167]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310965]|not provided [RCV001561515] |
Chr9:136515608 [GRCh38]
Chr9:139410060 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7311G>T (p.Glu2437Asp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001859456]|Aortic valve disease 1 [RCV002270170]|Cardiovascular phenotype [RCV000244758] |
Chr9:136496428 [GRCh38]
Chr9:139390880 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4746G>A (p.Pro1582=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002270156]|Aortic valve disease 1 [RCV002270155]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310904]|not specified [RCV000608215] |
Chr9:136504945 [GRCh38]
Chr9:139399397 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.5673C>T (p.Ser1891=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000461148]|Aortic valve disease 1 [RCV002270165]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310963]|NOTCH1-related condition [RCV003947816]|not provided [RCV001697732]|not specified [RCV003323480] |
Chr9:136500813 [GRCh38]
Chr9:139395265 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.6521A>G (p.Lys2174Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000692256]|Aortic valve disease 1 [RCV000766054]|Aortic valve disease 1 [RCV002270161]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310951]|not provided [RCV000493215] |
Chr9:136497218 [GRCh38]
Chr9:139391670 [GRCh37]
Chr9:9q34.3 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.2441A>G (p.Lys814Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748214]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311090] |
Chr9:136513047 [GRCh38]
Chr9:139407499 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5690C>T (p.Thr1897Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000687731]|Aortic valve disease 1 [RCV002270157]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310923] |
Chr9:136500796 [GRCh38]
Chr9:139395248 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.6130G>A (p.Ala2044Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001210978]|Aortic valve disease 1 [RCV002270154]|Cardiovascular phenotype [RCV000242723]|not provided [RCV001579834] |
Chr9:136498949 [GRCh38]
Chr9:139393401 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.3115G>A (p.Gly1039Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000456603]|Aortic valve disease 1 [RCV002270173]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311096]|NOTCH1-related condition [RCV003967687]|not provided [RCV001567151]|not specified [RCV003330614] |
Chr9:136508926 [GRCh38]
Chr9:139403378 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1374G>A (p.Ser458=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586174]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310966] |
Chr9:136517819 [GRCh38]
Chr9:139412271 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.*5C>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002311197]|not provided [RCV001549855] |
Chr9:136496066 [GRCh38]
Chr9:139390518 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4426G>A (p.Gly1476Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003105939]|Familial thoracic aortic aneurysm and aortic dissection [RCV003150255]|not provided [RCV000521514] |
Chr9:136505470 [GRCh38]
Chr9:139399922 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6397C>T (p.Pro2133Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000475797]|Aortic valve disease 1 [RCV002270196]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769588]|NOTCH1-related condition [RCV003977718]|not specified [RCV000417730] |
Chr9:136497342 [GRCh38]
Chr9:139391794 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.4551C>T (p.Asp1517=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000555355]|Aortic valve disease 1 [RCV002270181]|Connective tissue disorder [RCV000660165]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311158]|NOTCH1-related condition [RCV003955408]|not provided [RCV001660389] |
Chr9:136505345 [GRCh38]
Chr9:139399797 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7363A>G (p.Thr2455Ala) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000816086]|Aortic valve disease 1 [RCV000766053]|Aortic valve disease 1 [RCV002270179]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311142]|not provided [RCV001770223] |
Chr9:136496376 [GRCh38]
Chr9:139390828 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.7150C>G (p.Gln2384Glu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001318488]|Aortic valve disease 1 [RCV002270186]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311186]|not provided [RCV001753737] |
Chr9:136496589 [GRCh38]
Chr9:139391041 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.1775G>A (p.Arg592His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001854993]|Aortic valve disease 1 [RCV002270184]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311177] |
Chr9:136515611 [GRCh38]
Chr9:139410063 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.1950C>T (p.Cys650=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655267]|Aortic valve disease 1 [RCV002270182]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311161]|not specified [RCV003330615] |
Chr9:136515354 [GRCh38]
Chr9:139409806 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5967T>C (p.Asp1989=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000862614]|Aortic valve disease 1 [RCV002270163]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310955]|not provided [RCV001551863] |
Chr9:136499227 [GRCh38]
Chr9:139393679 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.6685G>A (p.Val2229Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000467175]|Aortic valve disease 1 [RCV002270195]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798762]|not provided [RCV001311043]|not specified [RCV001701928] |
Chr9:136497054 [GRCh38]
Chr9:139391506 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4917C>T (p.Ala1639=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000532297]|Aortic valve disease 1 [RCV002270150]|Aortic valve disease 1 [RCV002500946]|Connective tissue disorder [RCV000660169]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310877]|not provided [RCV001532183]|not specified [RCV000614152] |
Chr9:136504774 [GRCh38]
Chr9:139399226 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.5723C>T (p.Ala1908Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002311216] |
Chr9:136500763 [GRCh38]
Chr9:139395215 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4238G>A (p.Arg1413His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000471799]|Aortic valve disease 1 [RCV000766060]|Aortic valve disease 1 [RCV002270187]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798757]|not provided [RCV001536590] |
Chr9:136505658 [GRCh38]
Chr9:139400110 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.6636C>T (p.Asp2212=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000466065]|Aortic valve disease 1 [RCV002270171]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310980]|NOTCH1-related condition [RCV003939919]|not provided [RCV001697607] |
Chr9:136497103 [GRCh38]
Chr9:139391555 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6429C>T (p.Asn2143=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000533845]|Aortic valve disease 1 [RCV002270185]|Connective tissue disorder [RCV000680583]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170921]|NOTCH1-related condition [RCV003967690]|not provided [RCV001579856] |
Chr9:136497310 [GRCh38]
Chr9:139391762 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.775G>A (p.Asp259Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001054792]|Aortic valve disease 1 [RCV000764822]|Aortic valve disease 1 [RCV002270168]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310968]|NOTCH1-related condition [RCV003409382]|not provided [RCV000523362] |
Chr9:136519533 [GRCh38]
Chr9:139413985 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.4024G>A (p.Gly1342Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001058313]|Aortic valve disease 1 [RCV002270164]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310958]|not provided [RCV000999290] |
Chr9:136505872 [GRCh38]
Chr9:139400324 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3597C>T (p.Leu1199=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000864453]|Aortic valve disease 1 [RCV002270193]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311217] |
Chr9:136507351 [GRCh38]
Chr9:139401803 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.1962C>T (p.Thr654=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000458260]|Aortic valve disease 1 [RCV002270172]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311094]|not provided [RCV001697630]|not specified [RCV003323481] |
Chr9:136515342 [GRCh38]
Chr9:139409794 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.236G>A (p.Arg79His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000527952]|Aortic valve disease 1 [RCV002476206] |
Chr9:136523884 [GRCh38]
Chr9:139418336 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4698C>T (p.Pro1566=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001078834]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314032]|not provided [RCV000269673] |
Chr9:136504993 [GRCh38]
Chr9:139399445 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.5639-12C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001517577]|Aortic valve disease 1 [RCV002270210]|not specified [RCV000269079] |
Chr9:136500859 [GRCh38]
Chr9:139395311 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.2740+12C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001510930]|Aortic valve disease 1 [RCV001785545]|not specified [RCV000272824] |
Chr9:136510641 [GRCh38]
Chr9:139405093 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.1725C>T (p.Cys575=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003298336]|not provided [RCV000378950] |
Chr9:136515661 [GRCh38]
Chr9:139410113 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.3231C>G (p.Thr1077=) |
single nucleotide variant |
not provided [RCV000311925] |
Chr9:136508326 [GRCh38]
Chr9:139402778 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6555C>T (p.Asp2185=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001519881]|Aortic valve disease 1 [RCV000607860]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314018]|not specified [RCV000313125] |
Chr9:136497184 [GRCh38]
Chr9:139391636 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.2588-4G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001519882]|Aortic valve disease 1 [RCV000614135]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313993]|not specified [RCV000347835] |
Chr9:136510809 [GRCh38]
Chr9:139405261 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.1670-9A>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001514267]|Aortic valve disease 1 [RCV000608734]|not specified [RCV000384550] |
Chr9:136515725 [GRCh38]
Chr9:139410177 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.1555+10A>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001514268]|Aortic valve disease 1 [RCV000616716]|not specified [RCV000283888] |
Chr9:136517262 [GRCh38]
Chr9:139411714 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.5126T>C (p.Leu1709Pro) |
single nucleotide variant |
not provided [RCV000320089] |
Chr9:136503223 [GRCh38]
Chr9:139397675 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6648G>A (p.Pro2216=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000461829]|Aortic valve disease 1 [RCV002270209]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769585]|not provided [RCV003114452]|not specified [RCV000357259] |
Chr9:136497091 [GRCh38]
Chr9:139391543 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.3528C>T (p.His1176=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000539966]|Familial thoracic aortic aneurysm and aortic dissection [RCV001171110]|NOTCH1-related condition [RCV003940072]|not provided [RCV000726368]|not specified [RCV000260648] |
Chr9:136507420 [GRCh38]
Chr9:139401872 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.1380G>A (p.Pro460=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002059219]|Familial thoracic aortic aneurysm and aortic dissection [RCV002379140]|not provided [RCV000327683] |
Chr9:136517813 [GRCh38]
Chr9:139412265 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.825C>T (p.Gly275=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001087100]|Familial thoracic aortic aneurysm and aortic dissection [RCV002429234]|not provided [RCV000329314] |
Chr9:136519483 [GRCh38]
Chr9:139413935 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.312T>C (p.Asn104=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001519886]|Aortic valve disease 1 [RCV000615067]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314019]|not specified [RCV000367819] |
Chr9:136523808 [GRCh38]
Chr9:139418260 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.578G>A (p.Gly193Asp) |
single nucleotide variant |
Tetralogy of Fallot [RCV000408653] |
Chr9:136523014 [GRCh38]
Chr9:139417466 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.7233A>G (p.Pro2411=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000467212]|Aortic valve disease 1 [RCV002270206]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769575]|not provided [RCV003736687]|not specified [RCV000268202] |
Chr9:136496506 [GRCh38]
Chr9:139390958 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.*6G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002270202]|Aortic valve disease 1 [RCV002270201]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770359]|not specified [RCV000406847] |
Chr9:136496065 [GRCh38]
Chr9:139390517 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.6028A>T (p.Met2010Leu) |
single nucleotide variant |
not provided [RCV000490218] |
Chr9:136499166 [GRCh38]
Chr9:139393618 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5492T>C (p.Leu1831Pro) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655224]|Aortic valve disease 1 [RCV002270586]|Familial thoracic aortic aneurysm and aortic dissection [RCV002350089]|not provided [RCV000489091] |
Chr9:136501894 [GRCh38]
Chr9:139396346 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6593C>A (p.Ser2198Ter) |
single nucleotide variant |
not provided [RCV000489297] |
Chr9:136497146 [GRCh38]
Chr9:139391598 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.6131C>T (p.Ala2044Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748233]|not provided [RCV000489510] |
Chr9:136498948 [GRCh38]
Chr9:139393400 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6815G>A (p.Arg2272His) |
single nucleotide variant |
not provided [RCV000489575] |
Chr9:136496924 [GRCh38]
Chr9:139391376 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6428A>G (p.Asn2143Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003766749]|Familial thoracic aortic aneurysm and aortic dissection [RCV003168998]|not provided [RCV000489747] |
Chr9:136497311 [GRCh38]
Chr9:139391763 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5935-178C>T |
single nucleotide variant |
not provided [RCV001564189] |
Chr9:136499437 [GRCh38]
Chr9:139393889 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3320G>A (p.Arg1107Gln) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000526555]|Familial thoracic aortic aneurysm and aortic dissection [RCV002325109] |
Chr9:136508237 [GRCh38]
Chr9:139402689 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5387C>A (p.Pro1796His) |
single nucleotide variant |
not provided [RCV001573748] |
Chr9:136502086 [GRCh38]
Chr9:139396538 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5916C>T (p.Asp1972=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000554819]|Aortic valve disease 1 [RCV002270703]|Familial thoracic aortic aneurysm and aortic dissection [RCV002358627]|not provided [RCV001662609] |
Chr9:136500570 [GRCh38]
Chr9:139395022 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7210C>T (p.Gln2404Ter) |
single nucleotide variant |
not specified [RCV000578841] |
Chr9:136496529 [GRCh38]
Chr9:139390981 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.62G>A (p.Gly21Asp) |
single nucleotide variant |
not provided [RCV000523036] |
Chr9:136544102 [GRCh38]
Chr9:139438554 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3643+14C>T |
single nucleotide variant |
not specified [RCV000601153] |
Chr9:136507291 [GRCh38]
Chr9:139401743 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2326G>A (p.Val776Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000527166] |
Chr9:136513419 [GRCh38]
Chr9:139407871 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.865+4C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000550311] |
Chr9:136519439 [GRCh38]
Chr9:139413891 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7175T>C (p.Met2392Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002525197]|not provided [RCV000520989] |
Chr9:136496564 [GRCh38]
Chr9:139391016 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2500G>T (p.Ala834Ser) |
single nucleotide variant |
not provided [RCV000521013] |
Chr9:136511239 [GRCh38]
Chr9:139405691 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3270C>T (p.Thr1090=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000550713]|Aortic valve disease 1 [RCV002270690]|Familial thoracic aortic aneurysm and aortic dissection [RCV002448807]|not specified [RCV000602759] |
Chr9:136508287 [GRCh38]
Chr9:139402739 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.3765C>A (p.Cys1255Ter) |
single nucleotide variant |
Aortic valve disease 1 [RCV000408649] |
Chr9:136506852 [GRCh38]
Chr9:139401304 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.2439C>G (p.Tyr813Ter) |
single nucleotide variant |
Aortic valve disease 1 [RCV000408651] |
Chr9:136513049 [GRCh38]
Chr9:139407501 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.4045_4052del (p.Ala1349fs) |
deletion |
Adenoid cystic carcinoma [RCV000585751] |
Chr9:136505844..136505851 [GRCh38]
Chr9:139400296..139400303 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.6826C>T (p.Leu2276=) |
single nucleotide variant |
not specified [RCV000603449] |
Chr9:136496913 [GRCh38]
Chr9:139391365 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1442-12C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002528524]|not specified [RCV000603897] |
Chr9:136517397 [GRCh38]
Chr9:139411849 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2558_2560del (p.Phe853del) |
deletion |
Adams-Oliver syndrome 5 [RCV000803586]|Aortic valve disease 1 [RCV002270631]|Familial thoracic aortic aneurysm and aortic dissection [RCV002431488]|not provided [RCV000522624]|not specified [RCV003488652] |
Chr9:136511179..136511181 [GRCh38]
Chr9:139405631..139405633 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5223G>A (p.Ala1741=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000687161]|Familial thoracic aortic aneurysm and aortic dissection [RCV003160084]|NOTCH1-related condition [RCV003905595]|not provided [RCV001722649] |
Chr9:136502433 [GRCh38]
Chr9:139396885 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.7438C>T (p.Gln2480Ter) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002315124] |
Chr9:136496301 [GRCh38]
Chr9:139390753 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5092G>A (p.Asp1698Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001323610]|Aortic valve disease 1 [RCV002270885]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315091] |
Chr9:136503257 [GRCh38]
Chr9:139397709 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.3604C>T (p.Pro1202Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001855281]|Aortic valve disease 1 [RCV002270914]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315127] |
Chr9:136507344 [GRCh38]
Chr9:139401796 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3789C>T (p.Arg1263=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002315084] |
Chr9:136506828 [GRCh38]
Chr9:139401280 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.534T>C (p.Asp178=) |
single nucleotide variant |
not specified [RCV000599968] |
Chr9:136523058 [GRCh38]
Chr9:139417510 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.865+18C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002064338]|Aortic valve disease 1 [RCV002270857]|not specified [RCV000605391] |
Chr9:136519425 [GRCh38]
Chr9:139413877 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.4710G>A (p.Ala1570=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001078685]|Aortic valve disease 1 [RCV002270697]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315050]|not provided [RCV000827107] |
Chr9:136504981 [GRCh38]
Chr9:139399433 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3909C>T (p.Arg1303=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002315106] |
Chr9:136506632 [GRCh38]
Chr9:139401084 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7425C>T (p.Pro2475=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000866440]|Aortic valve disease 1 [RCV002270883]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170916]|not provided [RCV001824349] |
Chr9:136496314 [GRCh38]
Chr9:139390766 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.269_270delinsTG (p.Ala90Val) |
indel |
Adams-Oliver syndrome 5 [RCV000700446]|Aortic valve disease 1 [RCV002270915]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315128]|not provided [RCV003235312] |
Chr9:136523850..136523851 [GRCh38]
Chr9:139418302..139418303 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2917G>A (p.Ala973Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000703448]|Aortic valve disease 1 [RCV002270884]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315090]|not provided [RCV003236824] |
Chr9:136509785 [GRCh38]
Chr9:139404237 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.4262A>G (p.Asn1421Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000867558]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315907]|NOTCH1-related condition [RCV003927973]|not provided [RCV001697526] |
Chr9:136505634 [GRCh38]
Chr9:139400086 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1256-5G>A |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002314181] |
Chr9:136517942 [GRCh38]
Chr9:139412394 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4314C>T (p.Arg1438=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000526188]|Familial thoracic aortic aneurysm and aortic dissection [RCV003302892] |
Chr9:136505582 [GRCh38]
Chr9:139400034 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5500C>G (p.Leu1834Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000548714] |
Chr9:136501886 [GRCh38]
Chr9:139396338 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3643+17G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002063170]|Aortic valve disease 1 [RCV002270766]|not specified [RCV000600802] |
Chr9:136507288 [GRCh38]
Chr9:139401740 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4905C>T (p.Ala1635=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001419308]|Aortic valve disease 1 [RCV002270729]|Familial thoracic aortic aneurysm and aortic dissection [RCV002341544]|not specified [RCV000600923] |
Chr9:136504786 [GRCh38]
Chr9:139399238 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7138G>A (p.Val2380Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001240610]|Aortic valve disease 1 [RCV002270716]|Familial thoracic aortic aneurysm and aortic dissection [RCV002368007]|not provided [RCV000591716]|not specified [RCV003330813] |
Chr9:136496601 [GRCh38]
Chr9:139391053 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.197C>T (p.Thr66Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586204]|NOTCH1-related condition [RCV003905640]|not provided [RCV001719048] |
Chr9:136523923 [GRCh38]
Chr9:139418375 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.7554C>G (p.Asp2518Glu) |
single nucleotide variant |
not provided [RCV000592293] |
Chr9:136496185 [GRCh38]
Chr9:139390637 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.714C>T (p.Asp238=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002529551]|Familial thoracic aortic aneurysm and aortic dissection [RCV002368058]|NOTCH1-related condition [RCV003927979]|not specified [RCV000606749] |
Chr9:136522878 [GRCh38]
Chr9:139417330 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3350A>G (p.Gln1117Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001321816]|Aortic valve disease 1 [RCV002270921]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315139] |
Chr9:136508115 [GRCh38]
Chr9:139402567 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.3706C>T (p.Pro1236Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000553375]|not provided [RCV002281111] |
Chr9:136506911 [GRCh38]
Chr9:139401363 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.650G>A (p.Arg217Gln) |
single nucleotide variant |
not provided [RCV000520676] |
Chr9:136522942 [GRCh38]
Chr9:139417394 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6714C>T (p.Pro2238=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000527828]|Aortic valve disease 1 [RCV002270708]|Familial thoracic aortic aneurysm and aortic dissection [RCV002377195]|not provided [RCV001591307] |
Chr9:136497025 [GRCh38]
Chr9:139391477 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.3807C>T (p.Asn1269=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000529231] |
Chr9:136506810 [GRCh38]
Chr9:139401262 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6045del (p.Asn2016fs) |
deletion |
not provided [RCV000599316] |
Chr9:136499149 [GRCh38]
Chr9:139393601 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.1581C>T (p.Tyr527=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001475967]|Aortic valve disease 1 [RCV002270811]|Familial thoracic aortic aneurysm and aortic dissection [RCV002404665]|not specified [RCV000606538] |
Chr9:136516069 [GRCh38]
Chr9:139410521 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1753G>A (p.Ala585Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655245]|Aortic valve disease 1 [RCV002270625]|Aortic valve disease 1 [RCV002506270]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798867]|not provided [RCV000522085] |
Chr9:136515633 [GRCh38]
Chr9:139410085 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.6111C>G (p.Ala2037=) |
single nucleotide variant |
not specified [RCV000603590] |
Chr9:136498968 [GRCh38]
Chr9:139393420 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2514C>T (p.Cys838=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001445991]|Aortic valve disease 1 [RCV002270795]|not specified [RCV000603788] |
Chr9:136511225 [GRCh38]
Chr9:139405677 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4031C>T (p.Thr1344Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001078778]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770630]|not provided [RCV000523711]|not specified [RCV003987578] |
Chr9:136505865 [GRCh38]
Chr9:139400317 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.2442G>A (p.Lys814=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000868787]|Aortic valve disease 1 [RCV002270907]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315113] |
Chr9:136513046 [GRCh38]
Chr9:139407498 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.1553C>T (p.Thr518Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655289]|Familial thoracic aortic aneurysm and aortic dissection [RCV002402105]|NOTCH1-related condition [RCV003950321]|not provided [RCV001551946]|not specified [RCV000414547] |
Chr9:136517274 [GRCh38]
Chr9:139411726 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.2505C>A (p.Pro835=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000541326]|Aortic valve disease 1 [RCV002270684]|Familial thoracic aortic aneurysm and aortic dissection [RCV002431727]|NOTCH1-related condition [RCV003945340]|not provided [RCV001722525] |
Chr9:136511234 [GRCh38]
Chr9:139405686 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.6348C>G (p.Tyr2116Ter) |
single nucleotide variant |
Aortic valve disease 1 [RCV000414999] |
Chr9:136497391 [GRCh38]
Chr9:139391843 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.4988G>A (p.Arg1663Gln) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000557460]|Aortic valve disease 1 [RCV000766056]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315052]|not provided [RCV001553148] |
Chr9:136504703 [GRCh38]
Chr9:139399155 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3908G>A (p.Arg1303His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000559743]|Aortic valve disease 1 [RCV000576544]|not provided [RCV003736819] |
Chr9:136506633 [GRCh38]
Chr9:139401085 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2970-9C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000537325]|Aortic valve disease 1 [RCV002270688]|Connective tissue disorder [RCV000660155]|NOTCH1-related condition [RCV003945341]|not provided [RCV001579888]|not specified [RCV003488696] |
Chr9:136509080 [GRCh38]
Chr9:139403532 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.6259C>T (p.Arg2087Trp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002535356]|Familial thoracic aortic aneurysm and aortic dissection [RCV002360860]|not provided [RCV000733892] |
Chr9:136497480 [GRCh38]
Chr9:139391932 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4809C>T (p.Asn1603=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000539534]|Aortic valve disease 1 [RCV002270698]|Connective tissue disorder [RCV000660167]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315051]|not provided [RCV001722526] |
Chr9:136504882 [GRCh38]
Chr9:139399334 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.851C>T (p.Pro284Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000537829]|Aortic valve disease 1 [RCV002270714]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315062]|not provided [RCV001815410] |
Chr9:136519457 [GRCh38]
Chr9:139413909 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.3468C>T (p.Asn1156=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001087810]|NOTCH1-related condition [RCV003928236]|not provided [RCV000731642] |
Chr9:136507997 [GRCh38]
Chr9:139402449 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.7545G>T (p.Glu2515Asp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000535696]|Aortic valve disease 1 [RCV002270713]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315061]|not provided [RCV001764632] |
Chr9:136496194 [GRCh38]
Chr9:139390646 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3694G>A (p.Val1232Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000540757]|Aortic valve disease 1 [RCV002270692]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315047]|not provided [RCV001579924] |
Chr9:136506923 [GRCh38]
Chr9:139401375 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.1903+10C>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000541895]|Aortic valve disease 1 [RCV002270676]|Familial thoracic aortic aneurysm and aortic dissection [RCV003150275]|not specified [RCV000612528] |
Chr9:136515473 [GRCh38]
Chr9:139409925 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.4197C>T (p.Asn1399=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000541974] |
Chr9:136505699 [GRCh38]
Chr9:139400151 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4335C>G (p.Ile1445Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002270244]|Aortic valve disease 1 [RCV002270243]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314115]|not specified [RCV000412831] |
Chr9:136505561 [GRCh38]
Chr9:139400013 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.6173ACA[1] (p.Asn2059del) |
microsatellite |
not provided [RCV000413535] |
Chr9:136498901..136498903 [GRCh38]
Chr9:139393353..139393355 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.4413G>A (p.Ala1471=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000538614] |
Chr9:136505483 [GRCh38]
Chr9:139399935 [GRCh37]
Chr9:9q34.3 |
likely benign |
| GRCh37/hg19 9q34.3(chr9:139378932-139418309)x3 |
copy number gain |
not provided [RCV000753197] |
Chr9:139378932..139418309 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.2501C>G (p.Ala834Gly) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000552895]|Aortic valve disease 1 [RCV002270239]|Familial thoracic aortic aneurysm and aortic dissection [RCV002429340]|not specified [RCV000413713] |
Chr9:136511238 [GRCh38]
Chr9:139405690 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1749C>T (p.Gly583=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000548902]|Aortic valve disease 1 [RCV002270675]|not provided [RCV001697384] |
Chr9:136515637 [GRCh38]
Chr9:139410089 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2501C>T (p.Ala834Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000529019]|Familial thoracic aortic aneurysm and aortic dissection [RCV002431726] |
Chr9:136511238 [GRCh38]
Chr9:139405690 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1543G>C (p.Glu515Gln) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001300961]|Aortic valve disease 1 [RCV002270242]|not specified [RCV000414177] |
Chr9:136517284 [GRCh38]
Chr9:139411736 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.141-2A>T |
single nucleotide variant |
not provided [RCV000523920] |
Chr9:136523981 [GRCh38]
Chr9:139418433 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) |
copy number gain |
See cases [RCV000449375] |
Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9q34.3(chr9:138222049-141018925)x1 |
copy number loss |
See cases [RCV000446074] |
Chr9:138222049..141018925 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 |
copy number gain |
not specified [RCV003986800] |
Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3 |
copy number gain |
See cases [RCV000447080] |
Chr9:128652785..141044751 [GRCh37]
Chr9:9q33.3-34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.7356G>A (p.Ala2452=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001395243]|Aortic valve disease 1 [RCV002270433]|not specified [RCV000423806] |
Chr9:136496383 [GRCh38]
Chr9:139390835 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6979C>T (p.Arg2327Trp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000701504]|Aortic valve disease 1 [RCV001198791]|Familial thoracic aortic aneurysm and aortic dissection [RCV002374625]|Non-small cell lung carcinoma [RCV000420862] |
Chr9:136496760 [GRCh38]
Chr9:139391212 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_017617.5(NOTCH1):c.5094C>T (p.Asp1698=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001510321]|Aortic valve disease 1 [RCV000613771]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313080]|not provided [RCV003736765]|not specified [RCV000434401] |
Chr9:136503255 [GRCh38]
Chr9:139397707 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.4586+11G>C |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586183]|not specified [RCV000445165] |
Chr9:136505299 [GRCh38]
Chr9:139399751 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6313A>G (p.Met2105Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000697858]|Familial thoracic aortic aneurysm and aortic dissection [RCV002352169]|not provided [RCV003328621] |
Chr9:136497426 [GRCh38]
Chr9:139391878 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2353+14G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002063628]|Aortic valve disease 1 [RCV002270482]|not provided [RCV001579562]|not specified [RCV000431530] |
Chr9:136513378 [GRCh38]
Chr9:139407830 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.2970-20G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002060021]|Aortic valve disease 1 [RCV002270456]|not provided [RCV001724002]|not specified [RCV000441751] |
Chr9:136509091 [GRCh38]
Chr9:139403543 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.2443T>A (p.Cys815Ser) |
single nucleotide variant |
not provided [RCV000522843] |
Chr9:136513045 [GRCh38]
Chr9:139407497 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3511-10G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000468796]|Aortic valve disease 1 [RCV002270399]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770633]|not provided [RCV003422410]|not specified [RCV000418093] |
Chr9:136507447 [GRCh38]
Chr9:139401899 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.4924G>C (p.Asp1642His) |
single nucleotide variant |
Non-small cell lung carcinoma [RCV000434852] |
Chr9:136504767 [GRCh38]
Chr9:139399219 [GRCh37]
Chr9:9q34.3 |
not provided |
| NM_017617.5(NOTCH1):c.1099+9C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002059990]|Aortic valve disease 1 [RCV002270445]|not specified [RCV000438284] |
Chr9:136518582 [GRCh38]
Chr9:139413034 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6396G>C (p.Thr2132=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000862398]|Aortic valve disease 1 [RCV002270468]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313143]|not provided [RCV001721451]|not specified [RCV003323542] |
Chr9:136497343 [GRCh38]
Chr9:139391795 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.5019-13A>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002063540]|Aortic valve disease 1 [RCV002270446]|not specified [RCV000442406] |
Chr9:136503343 [GRCh38]
Chr9:139397795 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.2588-2A>C |
single nucleotide variant |
not provided [RCV000417942] |
Chr9:136510807 [GRCh38]
Chr9:139405259 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.6363C>T (p.Ser2121=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000557525]|Aortic valve disease 1 [RCV002270486]|Familial thoracic aortic aneurysm and aortic dissection [RCV002365571]|NOTCH1-related condition [RCV003960007]|not provided [RCV001696762] |
Chr9:136497376 [GRCh38]
Chr9:139391828 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.3902-4C>T |
single nucleotide variant |
not specified [RCV000418690] |
Chr9:136506643 [GRCh38]
Chr9:139401095 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.852G>A (p.Pro284=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001519885]|Aortic valve disease 1 [RCV000609106]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313079]|not specified [RCV000418721] |
Chr9:136519456 [GRCh38]
Chr9:139413908 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.5638+19A>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002063648]|Aortic valve disease 1 [RCV002270491]|not provided [RCV001579656]|not specified [RCV000421270] |
Chr9:136501729 [GRCh38]
Chr9:139396181 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4560C>T (p.Asp1520=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002063500]|Aortic valve disease 1 [RCV002270438]|not specified [RCV000424765] |
Chr9:136505336 [GRCh38]
Chr9:139399788 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1278G>A (p.Ala426=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001406805]|Aortic valve disease 1 [RCV002270490]|not provided [RCV003431015]|not specified [RCV000428466] |
Chr9:136517915 [GRCh38]
Chr9:139412367 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2265T>C (p.Asn755=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001510322]|Aortic valve disease 1 [RCV000602700]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313081]|not specified [RCV000435319] |
Chr9:136513480 [GRCh38]
Chr9:139407932 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.6583G>A (p.Gly2195Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001861639]|Aortic valve disease 1 [RCV002270478]|Familial thoracic aortic aneurysm and aortic dissection [RCV002374721]|not provided [RCV000438766] |
Chr9:136497156 [GRCh38]
Chr9:139391608 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.6083-15G>C |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002522589]|not specified [RCV000442451] |
Chr9:136499011 [GRCh38]
Chr9:139393463 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6582C>T (p.Ser2194=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000868655]|Aortic valve disease 1 [RCV002270435]|Familial thoracic aortic aneurysm and aortic dissection [RCV002374696]|not specified [RCV000418936] |
Chr9:136497157 [GRCh38]
Chr9:139391609 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.2136C>A (p.Thr712=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000460150]|Aortic valve disease 1 [RCV002270472]|Connective tissue disorder [RCV000660150]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313144]|not provided [RCV001698331]|not specified [RCV003323543] |
Chr9:136514581 [GRCh38]
Chr9:139409033 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.4860C>T (p.Tyr1620=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655293]|Aortic valve disease 1 [RCV002270483]|Familial thoracic aortic aneurysm and aortic dissection [RCV003168703]|not provided [RCV001696787] |
Chr9:136504831 [GRCh38]
Chr9:139399283 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5718G>A (p.Ala1906=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000463751]|Aortic valve disease 1 [RCV002270432]|Familial thoracic aortic aneurysm and aortic dissection [RCV002348224]|NOTCH1-related condition [RCV003959977]|not provided [RCV001698283] |
Chr9:136500768 [GRCh38]
Chr9:139395220 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.5421C>T (p.Asp1807=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000475470]|Aortic valve disease 1 [RCV002270444]|not provided [RCV001702483] |
Chr9:136502052 [GRCh38]
Chr9:139396504 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5805C>T (p.Ala1935=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001415209]|Aortic valve disease 1 [RCV002270451]|Familial thoracic aortic aneurysm and aortic dissection [RCV003380562]|not specified [RCV000421759] |
Chr9:136500681 [GRCh38]
Chr9:139395133 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.5018+14G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002063516]|Aortic valve disease 1 [RCV002270441]|not specified [RCV000425324] |
Chr9:136504659 [GRCh38]
Chr9:139399111 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5224G>T (p.Ala1742Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000471204]|Familial thoracic aortic aneurysm and aortic dissection [RCV002339103]|not provided [RCV000428861] |
Chr9:136502432 [GRCh38]
Chr9:139396884 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1929T>C (p.Asp643=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001405528]|Aortic valve disease 1 [RCV002270467]|not provided [RCV000908079] |
Chr9:136515375 [GRCh38]
Chr9:139409827 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.1680G>A (p.Gly560=) |
single nucleotide variant |
not specified [RCV000439416] |
Chr9:136515706 [GRCh38]
Chr9:139410158 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5019-6G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000472071]|Aortic valve disease 1 [RCV002270449]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798813]|not provided [RCV003736771]|not specified [RCV000442898] |
Chr9:136503336 [GRCh38]
Chr9:139397788 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2969+14G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002063610]|Aortic valve disease 1 [RCV002270473]|not specified [RCV000419428] |
Chr9:136509719 [GRCh38]
Chr9:139404171 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.2496G>A (p.Pro832=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001430973]|Aortic valve disease 1 [RCV002270437]|Familial thoracic aortic aneurysm and aortic dissection [RCV002429431]|not provided [RCV000923209] |
Chr9:136511243 [GRCh38]
Chr9:139405695 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2083G>T (p.Asp695Tyr) |
single nucleotide variant |
not provided [RCV000439431] |
Chr9:136514634 [GRCh38]
Chr9:139409086 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2427C>T (p.Asp809=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001449119]|Aortic valve disease 1 [RCV002270458]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170160]|not provided [RCV001704544] |
Chr9:136513061 [GRCh38]
Chr9:139407513 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1389C>T (p.Asn463=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000476306]|Aortic valve disease 1 [RCV002270431]|Connective tissue disorder [RCV000660141]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313120]|not provided [RCV001704501]|not specified [RCV003479116] |
Chr9:136517804 [GRCh38]
Chr9:139412256 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.1146C>T (p.Asn382=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000472213]|Aortic valve disease 1 [RCV002270440]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170171]|not provided [RCV001704512] |
Chr9:136518246 [GRCh38]
Chr9:139412698 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.927C>T (p.Gly309=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001059165]|Familial thoracic aortic aneurysm and aortic dissection [RCV003343827]|not specified [RCV000432668] |
Chr9:136518763 [GRCh38]
Chr9:139413215 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1670-18G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002056674]|Aortic valve disease 1 [RCV002270489]|Connective tissue disorder [RCV000660143]|not specified [RCV000425985] |
Chr9:136515734 [GRCh38]
Chr9:139410186 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2868C>T (p.Asn956=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001426893]|Aortic valve disease 1 [RCV002270439]|Familial thoracic aortic aneurysm and aortic dissection [RCV003485584]|not provided [RCV000459479] |
Chr9:136509834 [GRCh38]
Chr9:139404286 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7369C>G (p.Leu2457Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000554225]|Aortic valve disease 1 [RCV002270257]|Connective tissue disorder [RCV000660180]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313051]|not provided [RCV000429580]|not specified [RCV003479113] |
Chr9:136496370 [GRCh38]
Chr9:139390822 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.1441+7C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001519884]|Aortic valve disease 1 [RCV000603198]|not specified [RCV000429617] |
Chr9:136517745 [GRCh38]
Chr9:139412197 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.3288G>C (p.Val1096=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000473979]|Aortic valve disease 1 [RCV002270479]|Familial thoracic aortic aneurysm and aortic dissection [RCV002323662]|NOTCH1-related condition [RCV003912781]|not provided [RCV001696759]|not specified [RCV003330682] |
Chr9:136508269 [GRCh38]
Chr9:139402721 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.7269A>C (p.Ser2423=) |
single nucleotide variant |
not specified [RCV000443651] |
Chr9:136496470 [GRCh38]
Chr9:139390922 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3510+11C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002522699]|not specified [RCV000422652] |
Chr9:136507944 [GRCh38]
Chr9:139402396 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5018+13C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002056672]|Aortic valve disease 1 [RCV002270488]|Aortic valve disease 1 [RCV002488982]|not specified [RCV000426235] |
Chr9:136504660 [GRCh38]
Chr9:139399112 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.6358C>T (p.Arg2120Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002522725]|not provided [RCV000429779] |
Chr9:136497381 [GRCh38]
Chr9:139391833 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2587+20G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001517825]|Aortic valve disease 1 [RCV002270358]|not provided [RCV003114561]|not specified [RCV000433217] |
Chr9:136511132 [GRCh38]
Chr9:139405584 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.6814C>T (p.Arg2272Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001209653]|Aortic valve disease 1 [RCV002270469]|Connective tissue disorder [RCV000680580]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170918]|not provided [RCV000440204] |
Chr9:136496925 [GRCh38]
Chr9:139391377 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.7047G>A (p.Pro2349=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000868330]|Aortic valve disease 1 [RCV002270455]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313135]|not specified [RCV000422810] |
Chr9:136496692 [GRCh38]
Chr9:139391144 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.1100-16G>C |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002063582]|Aortic valve disease 1 [RCV002270461]|not specified [RCV000440438] |
Chr9:136518308 [GRCh38]
Chr9:139412760 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.1393G>A (p.Ala465Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000662246]|not provided [RCV000434097] |
Chr9:136517800 [GRCh38]
Chr9:139412252 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.383G>A (p.Arg128His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000558664]|Aortic valve disease 1 [RCV002270484]|not provided [RCV000430313] |
Chr9:136523737 [GRCh38]
Chr9:139418189 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.2354-5T>C |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000475073]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313123]|NOTCH1-related condition [RCV003925287]|not provided [RCV001721400]|not specified [RCV003323538] |
Chr9:136513139 [GRCh38]
Chr9:139407591 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1272G>A (p.Glu424=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000951809]|Aortic valve disease 1 [RCV002270457]|Familial thoracic aortic aneurysm and aortic dissection [RCV002446746]|not provided [RCV001704540] |
Chr9:136517921 [GRCh38]
Chr9:139412373 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1440C>T (p.Pro480=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000558570]|Aortic valve disease 1 [RCV002270485]|Aortic valve disease 1 [RCV002506081]|Familial thoracic aortic aneurysm and aortic dissection [RCV002393061]|not provided [RCV001696789] |
Chr9:136517753 [GRCh38]
Chr9:139412205 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.263G>A (p.Ser88Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001086567]|Aortic valve disease 1 [RCV002270247]|Aortic valve disease 1 [RCV002502458]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314122]|NOTCH1-related condition [RCV003950333]|not provided [RCV000436384] |
Chr9:136523857 [GRCh38]
Chr9:139418309 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.5733C>T (p.Ser1911=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002270430]|Aortic valve disease 1 [RCV002270429]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170924]|NOTCH1-related condition [RCV003912757]|not provided [RCV001721383] |
Chr9:136500753 [GRCh38]
Chr9:139395205 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.1953C>T (p.Asp651=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001476758]|Aortic valve disease 1 [RCV002270434]|Familial thoracic aortic aneurysm and aortic dissection [RCV002418320]|not provided [RCV000862234] |
Chr9:136515351 [GRCh38]
Chr9:139409803 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.3172-12A>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002060005]|Aortic valve disease 1 [RCV002270450]|not specified [RCV000437290] |
Chr9:136508397 [GRCh38]
Chr9:139402849 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1669+13G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002059758]|Aortic valve disease 1 [RCV002270381]|Connective tissue disorder [RCV000660142]|not specified [RCV000440811] |
Chr9:136515968 [GRCh38]
Chr9:139410420 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.3643+8C>G |
single nucleotide variant |
not specified [RCV000420441] |
Chr9:136507297 [GRCh38]
Chr9:139401749 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5562C>T (p.Arg1854=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001338321]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313138]|not provided [RCV003431011]|not specified [RCV000423385] |
Chr9:136501824 [GRCh38]
Chr9:139396276 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4718C>T (p.Thr1573Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001222877]|Aortic valve disease 1 [RCV002270386]|not provided [RCV000427061] |
Chr9:136504973 [GRCh38]
Chr9:139399425 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.2468-19G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002063475]|Aortic valve disease 1 [RCV002270428]|Aortic valve disease 1 [RCV002488956]|not provided [RCV003736770]|not specified [RCV000430662] |
Chr9:136511290 [GRCh38]
Chr9:139405742 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.1669+9T>C |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001519883]|Aortic valve disease 1 [RCV001785613]|not specified [RCV000437412] |
Chr9:136515972 [GRCh38]
Chr9:139410424 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.6375C>T (p.His2125=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000467879]|Aortic valve disease 1 [RCV002270462]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170922]|not specified [RCV000441158] |
Chr9:136497364 [GRCh38]
Chr9:139391816 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.4930C>T (p.Leu1644=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001084979]|Connective tissue disorder [RCV000680587]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770623]|not provided [RCV000729393]|not specified [RCV003323539] |
Chr9:136504761 [GRCh38]
Chr9:139399213 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 |
copy number gain |
See cases [RCV000448784] |
Chr9:124642754..141146461 [GRCh37]
Chr9:9q33.2-34.3 |
pathogenic |
| GRCh37/hg19 9q34.3(chr9:139282807-141020389)x1 |
copy number loss |
See cases [RCV000448743] |
Chr9:139282807..141020389 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 |
copy number gain |
See cases [RCV000448978] |
Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.3901+9C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001497468] |
Chr9:136506707 [GRCh38]
Chr9:139401159 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2425G>A (p.Asp809Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000458945] |
Chr9:136513063 [GRCh38]
Chr9:139407515 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2127C>T (p.His709=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000459011]|Aortic valve disease 1 [RCV002270523]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170164]|not provided [RCV001696886] |
Chr9:136514590 [GRCh38]
Chr9:139409042 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.6094C>T (p.Leu2032=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001413480] |
Chr9:136498985 [GRCh38]
Chr9:139393437 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3405G>A (p.Ala1135=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000462896]|Aortic valve disease 1 [RCV002270534]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313218] |
Chr9:136508060 [GRCh38]
Chr9:139402512 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3874C>T (p.His1292Tyr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000466504]|not provided [RCV000786381] |
Chr9:136506743 [GRCh38]
Chr9:139401195 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3213C>T (p.Gly1071=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001426410]|Familial thoracic aortic aneurysm and aortic dissection [RCV002323796]|NOTCH1-related condition [RCV003960086] |
Chr9:136508344 [GRCh38]
Chr9:139402796 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7539C>T (p.Ser2513=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001455035] |
Chr9:136496200 [GRCh38]
Chr9:139390652 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1441+8G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001451976]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798850] |
Chr9:136517744 [GRCh38]
Chr9:139412196 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2503C>T (p.Pro835Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000462955] |
Chr9:136511236 [GRCh38]
Chr9:139405688 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3966C>T (p.Cys1322=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000463128]|Aortic valve disease 1 [RCV002270516]|Familial thoracic aortic aneurysm and aortic dissection [RCV003168902]|not provided [RCV001552267] |
Chr9:136506575 [GRCh38]
Chr9:139401027 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7090A>G (p.Ser2364Gly) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000466763]|Aortic valve disease 1 [RCV002270511]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313173]|not provided [RCV001696875]|not specified [RCV003488613] |
Chr9:136496649 [GRCh38]
Chr9:139391101 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.7251G>A (p.Pro2417=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000466808]|Aortic valve disease 1 [RCV002270529]|Familial thoracic aortic aneurysm and aortic dissection [RCV002374855]|not provided [RCV001579466] |
Chr9:136496488 [GRCh38]
Chr9:139390940 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.687C>T (p.Asn229=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000470400]|Aortic valve disease 1 [RCV002270547]|not specified [RCV000600171] |
Chr9:136522905 [GRCh38]
Chr9:139417357 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4794C>T (p.Arg1598=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001487908]|Familial thoracic aortic aneurysm and aortic dissection [RCV002341098]|not provided [RCV003424035] |
Chr9:136504897 [GRCh38]
Chr9:139399349 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4880G>A (p.Arg1627His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000460526]|Aortic valve disease 1 [RCV002270504]|Familial thoracic aortic aneurysm and aortic dissection [RCV002339159]|not specified [RCV000825645] |
Chr9:136504811 [GRCh38]
Chr9:139399263 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.3974C>A (p.Ala1325Asp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000461377]|Aortic valve disease 1 [RCV002270505]|not provided [RCV001770342] |
Chr9:136506567 [GRCh38]
Chr9:139401019 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5361C>T (p.Leu1787=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000474469]|Familial thoracic aortic aneurysm and aortic dissection [RCV003168903] |
Chr9:136502295 [GRCh38]
Chr9:139396747 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6227C>T (p.Thr2076Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000464193]|Connective tissue disorder [RCV000660176] |
Chr9:136497512 [GRCh38]
Chr9:139391964 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6568C>T (p.Leu2190=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000465080]|Aortic valve disease 1 [RCV002270537]|Familial thoracic aortic aneurysm and aortic dissection [RCV002367597]|not provided [RCV001731704] |
Chr9:136497171 [GRCh38]
Chr9:139391623 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1752C>T (p.Val584=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001447388]|Familial thoracic aortic aneurysm and aortic dissection [RCV003150229] |
Chr9:136515634 [GRCh38]
Chr9:139410086 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.246G>C (p.Val82=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001494225] |
Chr9:136523874 [GRCh38]
Chr9:139418326 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7449G>A (p.Thr2483=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000459622]|Aortic valve disease 1 [RCV002270532]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313217]|not provided [RCV001721528]|not specified [RCV000610441] |
Chr9:136496290 [GRCh38]
Chr9:139390742 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.3374C>T (p.Ala1125Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000463462]|Aortic valve disease 1 [RCV002270494]|NOTCH1-related condition [RCV003942485]|not provided [RCV001546754] |
Chr9:136508091 [GRCh38]
Chr9:139402543 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.873C>T (p.Tyr291=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000463513]|Aortic valve disease 1 [RCV002270526]|Aortic valve disease 1 [RCV002475912]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769612]|not specified [RCV000603896] |
Chr9:136518817 [GRCh38]
Chr9:139413269 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.6362G>A (p.Ser2121Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000467318] |
Chr9:136497377 [GRCh38]
Chr9:139391829 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5193G>A (p.Pro1731=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000470830]|Familial thoracic aortic aneurysm and aortic dissection [RCV003168810] |
Chr9:136502463 [GRCh38]
Chr9:139396915 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2124C>T (p.Tyr708=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000471034]|Aortic valve disease 1 [RCV002270515]|Aortic valve disease 1 [RCV002489122]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769597]|NOTCH1-related condition [RCV003899981]|not provided [RCV001696885] |
Chr9:136514593 [GRCh38]
Chr9:139409045 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.5452C>G (p.Leu1818Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000662262]|Aortic valve disease 1 [RCV002270583]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313260]|NOTCH1-related condition [RCV003942599]|not provided [RCV000484133] |
Chr9:136502021 [GRCh38]
Chr9:139396473 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6084C>G (p.Gly2028=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001448725] |
Chr9:136498995 [GRCh38]
Chr9:139393447 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2806G>A (p.Gly936Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000456343]|Thoracic aortic aneurysm [RCV001753891] |
Chr9:136509896 [GRCh38]
Chr9:139404348 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6476G>A (p.Arg2159His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000467441]|Familial thoracic aortic aneurysm and aortic dissection [RCV002356680] |
Chr9:136497263 [GRCh38]
Chr9:139391715 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6573G>A (p.Leu2191=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001392576]|Familial thoracic aortic aneurysm and aortic dissection [RCV002367596]|not provided [RCV003736783] |
Chr9:136497166 [GRCh38]
Chr9:139391618 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6938G>A (p.Arg2313Gln) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000474849]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313168]|not provided [RCV001546211] |
Chr9:136496801 [GRCh38]
Chr9:139391253 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3249C>T (p.Cys1083=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000474955]|Aortic valve disease 1 [RCV002270536]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770637]|not provided [RCV003736784]|not specified [RCV000607038] |
Chr9:136508308 [GRCh38]
Chr9:139402760 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4586+10C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001450101]|Aortic valve disease 1 [RCV002489123]|NOTCH1-related condition [RCV003932749]|not provided [RCV000456384] |
Chr9:136505300 [GRCh38]
Chr9:139399752 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1670-10_1670-9inv |
inversion |
Adams-Oliver syndrome 5 [RCV000460103] |
Chr9:136515725..136515726 [GRCh38]
Chr9:139410177..139410178 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6120T>C (p.Asn2040=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000463857]|Aortic valve disease 1 [RCV002270541]|NOTCH1-related condition [RCV003902694]|not provided [RCV001707703] |
Chr9:136498959 [GRCh38]
Chr9:139393411 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.839A>G (p.Asn280Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000471470]|Aortic valve disease 1 [RCV000764821]|Aortic valve disease 1 [RCV002270509]|Familial thoracic aortic aneurysm and aortic dissection [RCV002436431]|not provided [RCV002253448]|not specified [RCV003330695] |
Chr9:136519469 [GRCh38]
Chr9:139413921 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.3384G>A (p.Thr1128=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000471583]|Aortic valve disease 1 [RCV002270521]|Familial thoracic aortic aneurysm and aortic dissection [RCV002455878]|not provided [RCV001721527] |
Chr9:136508081 [GRCh38]
Chr9:139402533 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.5506G>A (p.Asp1836Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000475092]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313216]|NOTCH1-related condition [RCV003972788]|not provided [RCV001707702]|not specified [RCV003323555] |
Chr9:136501880 [GRCh38]
Chr9:139396332 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6083-5C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000475214]|Aortic valve disease 1 [RCV002270539]|not provided [RCV001551583] |
Chr9:136499001 [GRCh38]
Chr9:139393453 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3150C>A (p.Gly1050=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000475284] |
Chr9:136508891 [GRCh38]
Chr9:139403343 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3780G>C (p.Val1260=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000456717]|Aortic valve disease 1 [RCV002270543]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313222]|not provided [RCV001573259]|not specified [RCV000615526] |
Chr9:136506837 [GRCh38]
Chr9:139401289 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.751G>A (p.Gly251Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000456752]|Aortic valve disease 1 [RCV002270501]|not provided [RCV002223848] |
Chr9:136519557 [GRCh38]
Chr9:139414009 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.4372G>A (p.Ala1458Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000468014]|Aortic valve disease 1 [RCV002270506]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313172]|not provided [RCV001557539] |
Chr9:136505524 [GRCh38]
Chr9:139399976 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.1309G>A (p.Glu437Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000457059]|Familial thoracic aortic aneurysm and aortic dissection [RCV002379458] |
Chr9:136517884 [GRCh38]
Chr9:139412336 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6291G>A (p.Pro2097=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000460493]|Connective tissue disorder [RCV000680584]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769589]|not provided [RCV001591123] |
Chr9:136497448 [GRCh38]
Chr9:139391900 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.339C>T (p.Asn113=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001444763]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769615] |
Chr9:136523781 [GRCh38]
Chr9:139418233 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.999C>T (p.Ser333=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000460657]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313169]|NOTCH1-related condition [RCV003970285]|not specified [RCV000613652] |
Chr9:136518691 [GRCh38]
Chr9:139413143 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5069C>T (p.Ser1690Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000464312]|Aortic valve disease 1 [RCV002270510]|Inborn genetic diseases [RCV002525579]|not provided [RCV001799662] |
Chr9:136503280 [GRCh38]
Chr9:139397732 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.6365C>T (p.Pro2122Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000468254]|Familial thoracic aortic aneurysm and aortic dissection [RCV002365638] |
Chr9:136497374 [GRCh38]
Chr9:139391826 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4472C>T (p.Thr1491Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000471927]|Aortic valve disease 1 [RCV000766058]|Aortic valve disease 1 [RCV002270500]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313171]|not provided [RCV001580497] |
Chr9:136505424 [GRCh38]
Chr9:139399876 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.4371C>T (p.Asp1457=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001398770]|Familial thoracic aortic aneurysm and aortic dissection [RCV003298527]|NOTCH1-related condition [RCV003925362] |
Chr9:136505525 [GRCh38]
Chr9:139399977 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3918C>T (p.Ser1306=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000475671]|Aortic valve disease 1 [RCV002270544]|Familial thoracic aortic aneurysm and aortic dissection [RCV001171106] |
Chr9:136506623 [GRCh38]
Chr9:139401075 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6294C>T (p.Arg2098=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001430871]|Aortic valve disease 1 [RCV002270546]|Familial thoracic aortic aneurysm and aortic dissection [RCV002367598]|not provided [RCV000475768] |
Chr9:136497445 [GRCh38]
Chr9:139391897 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.5403A>G (p.Ser1801=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001467492]|Aortic valve disease 1 [RCV002270540]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313220]|not provided [RCV000457227] |
Chr9:136502070 [GRCh38]
Chr9:139396522 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.823G>A (p.Gly275Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000460912]|Aortic valve disease 1 [RCV002270497]|Familial thoracic aortic aneurysm and aortic dissection [RCV002411472]|not provided [RCV001584157] |
Chr9:136519485 [GRCh38]
Chr9:139413937 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.912T>C (p.Asn304=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000464618] |
Chr9:136518778 [GRCh38]
Chr9:139413230 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4407C>T (p.Asn1469=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000464765]|Aortic valve disease 1 [RCV002270520]|Connective tissue disorder [RCV000660164]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313214]|not provided [RCV001696908] |
Chr9:136505489 [GRCh38]
Chr9:139399941 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.6109G>T (p.Ala2037Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000468389]|Aortic valve disease 1 [RCV000709944] |
Chr9:136498970 [GRCh38]
Chr9:139393422 [GRCh37]
Chr9:9q34.3 |
uncertain significance|not provided |
| NM_017617.5(NOTCH1):c.5019-13_5019-10del |
deletion |
Adams-Oliver syndrome 5 [RCV000468475]|Aortic valve disease 1 [RCV002270524]|Familial thoracic aortic aneurysm and aortic dissection [RCV001171099]|not specified [RCV000604130] |
Chr9:136503340..136503343 [GRCh38]
Chr9:139397792..139397795 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.390G>A (p.Pro130=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000457357]|Aortic valve disease 1 [RCV002270535]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798849]|NOTCH1-related condition [RCV003932750]|not provided [RCV001721530]|not specified [RCV003330708] |
Chr9:136523730 [GRCh38]
Chr9:139418182 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.1650C>T (p.Tyr550=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001088296]|Aortic valve disease 1 [RCV002270530]|Familial thoracic aortic aneurysm and aortic dissection [RCV002393200]|not provided [RCV000841945] |
Chr9:136516000 [GRCh38]
Chr9:139410452 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.156C>T (p.Phe52=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000464964]|Aortic valve disease 1 [RCV002270542]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313221]|not provided [RCV001704575] |
Chr9:136523964 [GRCh38]
Chr9:139418416 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.6577A>G (p.Ser2193Gly) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000472324]|Aortic valve disease 1 [RCV002270496]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798837]|not provided [RCV001726177] |
Chr9:136497162 [GRCh38]
Chr9:139391614 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.4653C>T (p.Ser1551=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000476198]|Aortic valve disease 1 [RCV002270531]|Familial thoracic aortic aneurysm and aortic dissection [RCV002329126]|NOTCH1-related condition [RCV003915305]|not provided [RCV001550775] |
Chr9:136505038 [GRCh38]
Chr9:139399490 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.328C>T (p.Pro110Ser) |
single nucleotide variant |
not provided [RCV000486049] |
Chr9:136523792 [GRCh38]
Chr9:139418244 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6745G>A (p.Val2249Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000457692]|Aortic valve disease 1 [RCV002496769] |
Chr9:136496994 [GRCh38]
Chr9:139391446 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5023A>G (p.Ile1675Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000468891]|Aortic valve disease 1 [RCV002270498]|Familial thoracic aortic aneurysm and aortic dissection [RCV002348311]|not provided [RCV001546235] |
Chr9:136503326 [GRCh38]
Chr9:139397778 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5550C>T (p.Ala1850=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000468933]|Aortic valve disease 1 [RCV002270533]|Familial thoracic aortic aneurysm and aortic dissection [RCV001171094]|not provided [RCV001721529] |
Chr9:136501836 [GRCh38]
Chr9:139396288 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5698A>G (p.Ser1900Gly) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000472507] |
Chr9:136500788 [GRCh38]
Chr9:139395240 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6475C>T (p.Arg2159Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000472536] |
Chr9:136497264 [GRCh38]
Chr9:139391716 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4157C>T (p.Pro1386Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000472629]|Aortic valve disease 1 [RCV002270503]|Familial thoracic aortic aneurysm and aortic dissection [RCV002329051]|not provided [RCV001591091] |
Chr9:136505739 [GRCh38]
Chr9:139400191 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.2882C>T (p.Thr961Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000476425]|Aortic valve disease 1 [RCV002270508]|Familial thoracic aortic aneurysm and aortic dissection [RCV003298488]|not provided [RCV001557233] |
Chr9:136509820 [GRCh38]
Chr9:139404272 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.454G>A (p.Gly152Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000476532]|Aortic valve disease 1 [RCV002270507]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798838]|NOTCH1-related condition [RCV003960028]|not provided [RCV001805069] |
Chr9:136523138 [GRCh38]
Chr9:139417590 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.4319T>C (p.Ile1440Thr) |
single nucleotide variant |
not specified [RCV000455808] |
Chr9:136505577 [GRCh38]
Chr9:139400029 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4010C>G (p.Pro1337Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655253]|Aortic valve disease 1 [RCV002270582]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313255]|not provided [RCV000481924] |
Chr9:136506531 [GRCh38]
Chr9:139400983 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2511C>T (p.Pro837=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000553930]|not provided [RCV003884643] |
Chr9:136511228 [GRCh38]
Chr9:139405680 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.165G>A (p.Pro55=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000461559]|Aortic valve disease 1 [RCV002270514]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313213]|not provided [RCV001579473] |
Chr9:136523955 [GRCh38]
Chr9:139418407 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.621C>T (p.Arg207=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002063680]|Aortic valve disease 1 [RCV002270538]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313219]|not provided [RCV000461673] |
Chr9:136522971 [GRCh38]
Chr9:139417423 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4185C>T (p.Asn1395=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001417865]|Aortic valve disease 1 [RCV002270522]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313215]|not provided [RCV000465269] |
Chr9:136505711 [GRCh38]
Chr9:139400163 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.3118T>C (p.Cys1040Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000465408] |
Chr9:136508923 [GRCh38]
Chr9:139403375 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1277C>G (p.Ala426Gly) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000472903] |
Chr9:136517916 [GRCh38]
Chr9:139412368 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1567C>T (p.His523Tyr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000457982]|Aortic valve disease 1 [RCV002270519]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170170]|not provided [RCV001721526] |
Chr9:136516083 [GRCh38]
Chr9:139410535 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.5685G>A (p.Leu1895=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001427361] |
Chr9:136500801 [GRCh38]
Chr9:139395253 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4313G>A (p.Arg1438His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000461782]|Aortic valve disease 1 [RCV000766059]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313170]|not provided [RCV001565647] |
Chr9:136505583 [GRCh38]
Chr9:139400035 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6517G>A (p.Ala2173Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000461898] |
Chr9:136497222 [GRCh38]
Chr9:139391674 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2640C>T (p.His880=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000465703]|Aortic valve disease 1 [RCV002270527]|Connective tissue disorder [RCV000660153]|Familial thoracic aortic aneurysm and aortic dissection [RCV002455879]|not specified [RCV003401502] |
Chr9:136510753 [GRCh38]
Chr9:139405205 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.186G>C (p.Pro62=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000469297]|Aortic valve disease 1 [RCV002270545]|Connective tissue disorder [RCV000680598]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170715]|not provided [RCV001721531]|not specified [RCV003323556] |
Chr9:136523934 [GRCh38]
Chr9:139418386 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.5220G>A (p.Ala1740=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001453248]|Familial thoracic aortic aneurysm and aortic dissection [RCV002341096] |
Chr9:136502436 [GRCh38]
Chr9:139396888 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2636G>A (p.Arg879Gln) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000476977]|Aortic valve disease 1 [RCV002270495]|Familial thoracic aortic aneurysm and aortic dissection [RCV002451109]|not provided [RCV000523567] |
Chr9:136510757 [GRCh38]
Chr9:139405209 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.4290C>T (p.Tyr1430=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000462061]|Familial thoracic aortic aneurysm and aortic dissection [RCV002329127] |
Chr9:136505606 [GRCh38]
Chr9:139400058 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.79C>A (p.Pro27Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000462159]|Familial thoracic aortic aneurysm and aortic dissection [RCV002418394] |
Chr9:136544085 [GRCh38]
Chr9:139438537 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3245G>T (p.Arg1082Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000465938] |
Chr9:136508312 [GRCh38]
Chr9:139402764 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7224G>A (p.Leu2408=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001477264] |
Chr9:136496515 [GRCh38]
Chr9:139390967 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6058G>A (p.Asp2020Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000469574]|Aortic valve disease 1 [RCV002481433] |
Chr9:136499136 [GRCh38]
Chr9:139393588 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1514G>A (p.Cys505Tyr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000473399] |
Chr9:136517313 [GRCh38]
Chr9:139411765 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.892G>C (p.Glu298Gln) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000477031] |
Chr9:136518798 [GRCh38]
Chr9:139413250 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2023del (p.Cys675fs) |
deletion |
not provided [RCV000486605] |
Chr9:136514694 [GRCh38]
Chr9:139409146 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.4656G>A (p.Ala1552=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000458451]|Familial thoracic aortic aneurysm and aortic dissection [RCV002341097]|not specified [RCV003987549] |
Chr9:136505035 [GRCh38]
Chr9:139399487 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.527G>A (p.Arg176Gln) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000466090]|Aortic valve disease 1 [RCV002270502]|Familial thoracic aortic aneurysm and aortic dissection [RCV002348312]|Pulmonary arterial hypertension [RCV002285159]|not provided [RCV001508285] |
Chr9:136523065 [GRCh38]
Chr9:139417517 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.5189C>T (p.Pro1730Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000469842]|Aortic valve disease 1 [RCV000766055]|Familial thoracic aortic aneurysm and aortic dissection [RCV001171097]|NOTCH1-related condition [RCV003392282]|not provided [RCV001551722] |
Chr9:136502467 [GRCh38]
Chr9:139396919 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.5830G>A (p.Ala1944Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000477303]|not provided [RCV003488612] |
Chr9:136500656 [GRCh38]
Chr9:139395108 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.157G>A (p.Val53Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000477441]|Aortic valve disease 1 [RCV002270499]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170716]|not provided [RCV003133272] |
Chr9:136523963 [GRCh38]
Chr9:139418415 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.3469G>A (p.Gly1157Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000458674] |
Chr9:136507996 [GRCh38]
Chr9:139402448 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1441+4C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000462483] |
Chr9:136517748 [GRCh38]
Chr9:139412200 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6949G>A (p.Gly2317Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000462592]|Inborn genetic diseases [RCV002523316] |
Chr9:136496790 [GRCh38]
Chr9:139391242 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3325+10T>C |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001489999] |
Chr9:136508222 [GRCh38]
Chr9:139402674 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3442G>A (p.Glu1148Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000466390] |
Chr9:136508023 [GRCh38]
Chr9:139402475 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1125A>G (p.Ala375=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002270518]|Aortic valve disease 1 [RCV002270517]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798848]|NOTCH1-related condition [RCV003960084]|not provided [RCV000469932] |
Chr9:136518267 [GRCh38]
Chr9:139412719 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3644-5C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000470082]|Aortic valve disease 1 [RCV002270525]|Familial thoracic aortic aneurysm and aortic dissection [RCV002350026]|NOTCH1-related condition [RCV003960085]|not provided [RCV001552411] |
Chr9:136506978 [GRCh38]
Chr9:139401430 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2355T>C (p.Gly785=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000473707]|Aortic valve disease 1 [RCV002270528]|Aortic valve disease 1 [RCV002475913]|Familial thoracic aortic aneurysm and aortic dissection [RCV003343849]|not specified [RCV000605043] |
Chr9:136513133 [GRCh38]
Chr9:139407585 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.2588-9G>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000473823]|NOTCH1-related condition [RCV003942555] |
Chr9:136510814 [GRCh38]
Chr9:139405266 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4635C>T (p.Cys1545=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000473857]|not provided [RCV001580130] |
Chr9:136505056 [GRCh38]
Chr9:139399508 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4121G>T (p.Cys1374Phe) |
single nucleotide variant |
not provided [RCV000480388] |
Chr9:136505775 [GRCh38]
Chr9:139400227 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.1093C>T (p.Arg365Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002526596]|not provided [RCV000480413] |
Chr9:136518597 [GRCh38]
Chr9:139413049 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|uncertain significance |
| NM_017617.5(NOTCH1):c.3869A>G (p.Asp1290Gly) |
single nucleotide variant |
not provided [RCV000497332] |
Chr9:136506748 [GRCh38]
Chr9:139401200 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| Single allele |
deletion |
Adams-Oliver syndrome 5 [RCV000148350] |
Chr9:139439621..139524760 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic |
| NM_017617.5(NOTCH1):c.2206G>A (p.Gly736Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001216676]|Connective tissue disorder [RCV000660151]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770643]|NOTCH1-related condition [RCV003419843]|not provided [RCV000498590] |
Chr9:136514511 [GRCh38]
Chr9:139408963 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| GRCh37/hg19 9q34.3(chr9:138209358-141020389)x1 |
copy number loss |
See cases [RCV000510584] |
Chr9:138209358..141020389 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.1870G>A (p.Ala624Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586189]|Familial thoracic aortic aneurysm and aortic dissection [RCV002413355]|not provided [RCV000493470] |
Chr9:136515516 [GRCh38]
Chr9:139409968 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1711G>A (p.Asp571Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000541112]|Aortic valve disease 1 [RCV002270591]|Familial thoracic aortic aneurysm and aortic dissection [RCV002404296]|not provided [RCV000494050] |
Chr9:136515675 [GRCh38]
Chr9:139410127 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.6283C>T (p.Arg2095Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001301819]|Aortic valve disease 1 [RCV002270590]|Familial thoracic aortic aneurysm and aortic dissection [RCV002356809]|not provided [RCV000494409] |
Chr9:136497456 [GRCh38]
Chr9:139391908 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.4016G>C (p.Gly1339Ala) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001201458]|Aortic valve disease 1 [RCV002270592]|not provided [RCV000494578] |
Chr9:136505880 [GRCh38]
Chr9:139400332 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6867C>A (p.Ser2289Arg) |
single nucleotide variant |
not provided [RCV000494579] |
Chr9:136496872 [GRCh38]
Chr9:139391324 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.244G>A (p.Val82Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000701769]|Aortic valve disease 1 [RCV002270589]|Familial thoracic aortic aneurysm and aortic dissection [RCV002431437]|not provided [RCV000494580] |
Chr9:136523876 [GRCh38]
Chr9:139418328 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.4898G>A (p.Arg1633His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002063856]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314848]|NOTCH1-related condition [RCV003925425]|Shone complex [RCV000678731]|not provided [RCV000869038] |
Chr9:136504793 [GRCh38]
Chr9:139399245 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.7316G>C (p.Ser2439Thr) |
single nucleotide variant |
not provided [RCV000493397] |
Chr9:136496423 [GRCh38]
Chr9:139390875 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4013C>T (p.Ala1338Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001307582]|Aortic valve disease 1 [RCV002270878]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315078]|not provided [RCV001770554] |
Chr9:136506528 [GRCh38]
Chr9:139400980 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7498C>G (p.His2500Asp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001859994]|Aortic valve disease 1 [RCV000576306]|Aortic valve disease 1 [RCV002270715]|Familial thoracic aortic aneurysm and aortic dissection [RCV002395498]|not provided [RCV002259354] |
Chr9:136496241 [GRCh38]
Chr9:139390693 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 9q34.3(chr9:138275621-141020389)x3 |
copy number gain |
See cases [RCV000511188] |
Chr9:138275621..141020389 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.3017C>T (p.Thr1006Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001215796]|Familial thoracic aortic aneurysm and aortic dissection [RCV003294037]|not provided [RCV003148947] |
Chr9:136509024 [GRCh38]
Chr9:139403476 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| GRCh37/hg19 9q34.3(chr9:139356957-139431947)x3 |
copy number gain |
See cases [RCV000511305] |
Chr9:139356957..139431947 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.166C>T (p.Arg56Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV000624179]|not provided [RCV003228963] |
Chr9:136523954 [GRCh38]
Chr9:139418406 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.5472+19G>C |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002062893]|Aortic valve disease 1 [RCV002270734]|Connective tissue disorder [RCV000680586]|not specified [RCV000606795] |
Chr9:136501982 [GRCh38]
Chr9:139396434 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.3171+12G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001484608]|Aortic valve disease 1 [RCV002270864]|not specified [RCV000601676] |
Chr9:136508858 [GRCh38]
Chr9:139403310 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6018C>T (p.Ala2006=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002060677]|Aortic valve disease 1 [RCV002270891]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315098] |
Chr9:136499176 [GRCh38]
Chr9:139393628 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6597C>T (p.Pro2199=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002060679]|Aortic valve disease 1 [RCV002270903]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315109] |
Chr9:136497142 [GRCh38]
Chr9:139391594 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3061G>A (p.Asp1021Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002531839]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315074]|NOTCH1-related condition [RCV003424191] |
Chr9:136508980 [GRCh38]
Chr9:139403432 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2864G>A (p.Arg955His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000556587]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170155]|not provided [RCV001770494] |
Chr9:136509838 [GRCh38]
Chr9:139404290 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.6108C>T (p.Ala2036=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000556881]|Aortic valve disease 1 [RCV002270705]|Familial thoracic aortic aneurysm and aortic dissection [RCV002358628]|NOTCH1-related condition [RCV003952900]|not provided [RCV001591306]|not specified [RCV003330797] |
Chr9:136498971 [GRCh38]
Chr9:139393423 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.2588-16T>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002064258]|Aortic valve disease 1 [RCV002270839]|not specified [RCV000603509] |
Chr9:136510821 [GRCh38]
Chr9:139405273 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5914G>A (p.Asp1972Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002315094] |
Chr9:136500572 [GRCh38]
Chr9:139395024 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2338C>T (p.Arg780Trp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002531843]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315129] |
Chr9:136513407 [GRCh38]
Chr9:139407859 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.743-17G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003767688]|not specified [RCV000607285] |
Chr9:136519582 [GRCh38]
Chr9:139414034 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.19C>T (p.Pro7Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000802034]|Aortic valve disease 1 [RCV002270917]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315134] |
Chr9:136545768 [GRCh38]
Chr9:139440220 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.4542C>T (p.Cys1514=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002315117] |
Chr9:136505354 [GRCh38]
Chr9:139399806 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3486C>T (p.Asp1162=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002315086] |
Chr9:136507979 [GRCh38]
Chr9:139402431 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5901G>C (p.Ala1967=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003278136] |
Chr9:136500585 [GRCh38]
Chr9:139395037 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1046C>T (p.Thr349Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003278137] |
Chr9:136518644 [GRCh38]
Chr9:139413096 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1477G>A (p.Glu493Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000534753] |
Chr9:136517350 [GRCh38]
Chr9:139411802 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5307C>T (p.Phe1769=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000535329] |
Chr9:136502349 [GRCh38]
Chr9:139396801 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.153C>T (p.Ala51=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000535496]|Familial thoracic aortic aneurysm and aortic dissection [RCV002404577] |
Chr9:136523967 [GRCh38]
Chr9:139418419 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5168-4G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000558100]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315055]|not provided [RCV001579909]|not specified [RCV003987603] |
Chr9:136502492 [GRCh38]
Chr9:139396944 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2015-13G>C |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002528613]|not specified [RCV000599796] |
Chr9:136514715 [GRCh38]
Chr9:139409167 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.573C>T (p.His191=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001465709]|Aortic valve disease 1 [RCV002270906]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315112] |
Chr9:136523019 [GRCh38]
Chr9:139417471 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.5572A>C (p.Met1858Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000698240]|Aortic valve disease 1 [RCV002270920]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315138]|not provided [RCV001788302] |
Chr9:136501814 [GRCh38]
Chr9:139396266 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.2784G>A (p.Thr928=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000536250]|Aortic valve disease 1 [RCV002270687]|Familial thoracic aortic aneurysm and aortic dissection [RCV002438506]|not provided [RCV001538707] |
Chr9:136509918 [GRCh38]
Chr9:139404370 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7203C>T (p.Asn2401=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001404514]|Aortic valve disease 1 [RCV002270871]|Familial thoracic aortic aneurysm and aortic dissection [RCV002377330]|not specified [RCV000605867] |
Chr9:136496536 [GRCh38]
Chr9:139390988 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6727G>A (p.Gly2243Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001868117]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314178]|not provided [RCV001567286] |
Chr9:136497012 [GRCh38]
Chr9:139391464 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2825G>A (p.Cys942Tyr) |
single nucleotide variant |
Adenoid cystic carcinoma [RCV000585786] |
Chr9:136509877 [GRCh38]
Chr9:139404329 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic |
| NM_017617.5(NOTCH1):c.7017C>T (p.Ala2339=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000540852]|Aortic valve disease 1 [RCV002270709]|not provided [RCV001564625] |
Chr9:136496722 [GRCh38]
Chr9:139391174 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6180+9G>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655297]|Aortic valve disease 1 [RCV002270831]|not specified [RCV000600908] |
Chr9:136498890 [GRCh38]
Chr9:139393342 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3326-11A>C |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002062919]|Aortic valve disease 1 [RCV002270737]|Connective tissue disorder [RCV000680591]|not provided [RCV001697434]|not specified [RCV003323630] |
Chr9:136508150 [GRCh38]
Chr9:139402602 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.1363G>C (p.Glu455Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV000623875] |
Chr9:136517830 [GRCh38]
Chr9:139412282 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2266G>T (p.Glu756Ter) |
single nucleotide variant |
Aortic valve disease 1 [RCV003313018] |
Chr9:136513479 [GRCh38]
Chr9:139407931 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.7536G>A (p.Pro2512=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000559954]|Aortic valve disease 1 [RCV002270712]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315060]|not provided [RCV001707741] |
Chr9:136496203 [GRCh38]
Chr9:139390655 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.5568T>C (p.Ser1856=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001511526]|Familial thoracic aortic aneurysm and aortic dissection [RCV002350403]|NOTCH1-related condition [RCV003900243] |
Chr9:136501818 [GRCh38]
Chr9:139396270 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.4571C>T (p.Ala1524Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001312893]|Aortic valve disease 1 [RCV002270630]|not provided [RCV000524021]|not specified [RCV003479150] |
Chr9:136505325 [GRCh38]
Chr9:139399777 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.2207+9C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000537636]|NOTCH1-related condition [RCV003935561] |
Chr9:136514501 [GRCh38]
Chr9:139408953 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2745G>A (p.Pro915=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000560353]|Aortic valve disease 1 [RCV002270686]|not specified [RCV000612338] |
Chr9:136509957 [GRCh38]
Chr9:139404409 [GRCh37]
Chr9:9q34.3 |
likely benign |
| GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1 |
copy number loss |
mTOR Inhibitor response [RCV000626442] |
Chr9:135377559..141213431 [GRCh37]
Chr9:9q34.13-34.3 |
drug response |
| NM_017617.5(NOTCH1):c.1162G>A (p.Asp388Asn) |
single nucleotide variant |
not provided [RCV000514368] |
Chr9:136518230 [GRCh38]
Chr9:139412682 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.5190G>A (p.Pro1730=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000534376]|Familial thoracic aortic aneurysm and aortic dissection [RCV003302893] |
Chr9:136502466 [GRCh38]
Chr9:139396918 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6570G>C (p.Leu2190=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000534494]|Aortic valve disease 1 [RCV002270706]|Familial thoracic aortic aneurysm and aortic dissection [RCV002367970]|not provided [RCV000840854] |
Chr9:136497169 [GRCh38]
Chr9:139391621 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1556-9C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000548117]|Aortic valve disease 1 [RCV002270674]|NOTCH1-related condition [RCV003925737]|not provided [RCV001697383] |
Chr9:136516103 [GRCh38]
Chr9:139410555 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.6300C>A (p.Ile2100=) |
single nucleotide variant |
not specified [RCV000602850] |
Chr9:136497439 [GRCh38]
Chr9:139391891 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3901+19C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001855229]|not specified [RCV000603043] |
Chr9:136506697 [GRCh38]
Chr9:139401149 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2741-13C>G |
single nucleotide variant |
not specified [RCV000603224] |
Chr9:136509974 [GRCh38]
Chr9:139404426 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4506C>T (p.Asp1502=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655280]|Aortic valve disease 1 [RCV002270893]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315100]|NOTCH1-related condition [RCV003892399]|not specified [RCV003330841] |
Chr9:136505390 [GRCh38]
Chr9:139399842 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.750C>A (p.Thr250=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000530247]|Aortic valve disease 1 [RCV002270711]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315059]|not provided [RCV001591308]|not specified [RCV003323618] |
Chr9:136519558 [GRCh38]
Chr9:139414010 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.6753C>T (p.Ala2251=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001855280]|Aortic valve disease 1 [RCV002270900]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315104] |
Chr9:136496986 [GRCh38]
Chr9:139391438 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1701C>A (p.Ile567=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001500595]|Aortic valve disease 1 [RCV002270896]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315101] |
Chr9:136515685 [GRCh38]
Chr9:139410137 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.645C>T (p.Cys215=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001860403]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315114]|not provided [RCV001764735] |
Chr9:136522947 [GRCh38]
Chr9:139417399 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5532T>C (p.Thr1844=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586406]|Familial thoracic aortic aneurysm and aortic dissection [RCV003306649] |
Chr9:136501854 [GRCh38]
Chr9:139396306 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.631A>G (p.Thr211Ala) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001478491]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315069]|NOTCH1-related condition [RCV003935732]|not provided [RCV001591389] |
Chr9:136522961 [GRCh38]
Chr9:139417413 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5560C>T (p.Arg1854Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000814127]|Aortic valve disease 1 [RCV002270911]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315123]|not specified [RCV000825407] |
Chr9:136501826 [GRCh38]
Chr9:139396278 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.5016C>T (p.Arg1672=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002270818]|Aortic valve disease 1 [RCV002270817]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315927]|NOTCH1-related condition [RCV003403423]|not specified [RCV000607150] |
Chr9:136504675 [GRCh38]
Chr9:139399127 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1972A>G (p.Lys658Glu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000703349]|Aortic valve disease 1 [RCV002270881]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315082]|not provided [RCV001561367] |
Chr9:136515332 [GRCh38]
Chr9:139409784 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.7423C>T (p.Pro2475Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003281738] |
Chr9:136496316 [GRCh38]
Chr9:139390768 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4428C>T (p.Gly1476=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002064253]|Aortic valve disease 1 [RCV002270838]|Familial thoracic aortic aneurysm and aortic dissection [RCV002331071]|not specified [RCV000607304] |
Chr9:136505468 [GRCh38]
Chr9:139399920 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.500C>T (p.Pro167Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002270895]|Aortic valve disease 1 [RCV002270894]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170711]|not provided [RCV002260652] |
Chr9:136523092 [GRCh38]
Chr9:139417544 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.865+16G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002528548]|not specified [RCV000602101] |
Chr9:136519427 [GRCh38]
Chr9:139413879 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5922A>G (p.Gln1974=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002531723]|not specified [RCV000602148] |
Chr9:136500564 [GRCh38]
Chr9:139395016 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.5414T>C (p.Leu1805Pro) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655262]|Aortic valve disease 1 [RCV002270717]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315892]|NOTCH1-related condition [RCV003403396]|Pulmonary arterial hypertension [RCV002285163]|not provided [RCV000594908] |
Chr9:136502059 [GRCh38]
Chr9:139396511 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.6366G>A (p.Pro2122=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001472319]|Aortic valve disease 1 [RCV002270769]|Familial thoracic aortic aneurysm and aortic dissection [RCV002368054]|not specified [RCV000602243] |
Chr9:136497373 [GRCh38]
Chr9:139391825 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6546G>A (p.Lys2182=) |
single nucleotide variant |
not specified [RCV000602472] |
Chr9:136497193 [GRCh38]
Chr9:139391645 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6016G>A (p.Ala2006Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003293744] |
Chr9:136499178 [GRCh38]
Chr9:139393630 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1903+6C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000554489] |
Chr9:136515477 [GRCh38]
Chr9:139409929 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1205C>T (p.Ser402Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000700981]|Aortic valve disease 1 [RCV002270632]|not provided [RCV000523401] |
Chr9:136518187 [GRCh38]
Chr9:139412639 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.6481C>T (p.Pro2161Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001058437]|Adams-Oliver syndrome 5 [RCV001535474]|Aortic valve disease 1 [RCV001335846]|Aortic valve disease 1 [RCV002481696]|Familial thoracic aortic aneurysm and aortic dissection [RCV002367728]|not provided [RCV000727124] |
Chr9:136497258 [GRCh38]
Chr9:139391710 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_017617.5(NOTCH1):c.2576C>G (p.Thr859Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003286763] |
Chr9:136511163 [GRCh38]
Chr9:139405615 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.908C>T (p.Pro303Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003293743] |
Chr9:136518782 [GRCh38]
Chr9:139413234 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7458G>C (p.Ser2486=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003293746] |
Chr9:136496281 [GRCh38]
Chr9:139390733 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5017G>A (p.Gly1673Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000533504]|Aortic valve disease 1 [RCV002270699]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315053]|not provided [RCV003159134] |
Chr9:136504674 [GRCh38]
Chr9:139399126 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2014+16C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002066870]|Aortic valve disease 1 [RCV002270868]|not provided [RCV001580060]|not specified [RCV000609484] |
Chr9:136515274 [GRCh38]
Chr9:139409726 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4572G>A (p.Ala1524=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002062938]|Aortic valve disease 1 [RCV002270738]|not provided [RCV001697336] |
Chr9:136505324 [GRCh38]
Chr9:139399776 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2353+13C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002064274]|Aortic valve disease 1 [RCV002270843]|not specified [RCV000614998] |
Chr9:136513379 [GRCh38]
Chr9:139407831 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.51C>T (p.Leu17=) |
single nucleotide variant |
not specified [RCV000615029] |
Chr9:136545736 [GRCh38]
Chr9:139440188 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6061G>T (p.Val2021Phe) |
single nucleotide variant |
not provided [RCV003318031] |
Chr9:136499133 [GRCh38]
Chr9:139393585 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1262A>G (p.Asn421Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001860402]|Aortic valve disease 1 [RCV002270902]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315108] |
Chr9:136517931 [GRCh38]
Chr9:139412383 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.6204C>T (p.Ala2068=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002066600]|Aortic valve disease 1 [RCV002270855]|Familial thoracic aortic aneurysm and aortic dissection [RCV002368102]|not specified [RCV000609670] |
Chr9:136497535 [GRCh38]
Chr9:139391987 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6783C>T (p.Gly2261=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001491354]|Aortic valve disease 1 [RCV002270781]|Familial thoracic aortic aneurysm and aortic dissection [RCV002368069]|not provided [RCV001697506] |
Chr9:136496956 [GRCh38]
Chr9:139391408 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1441+18A>G |
single nucleotide variant |
not specified [RCV000609702] |
Chr9:136517734 [GRCh38]
Chr9:139412186 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4296C>T (p.Phe1432=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001493389]|Aortic valve disease 1 [RCV002270772]|Familial thoracic aortic aneurysm and aortic dissection [RCV002331043]|not provided [RCV000869251] |
Chr9:136505600 [GRCh38]
Chr9:139400052 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1100-14C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002065287]|Aortic valve disease 1 [RCV002270790]|not specified [RCV000601407] |
Chr9:136518306 [GRCh38]
Chr9:139412758 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.2207+16G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002063055]|Aortic valve disease 1 [RCV002270746]|not provided [RCV003424174]|not specified [RCV000606866] |
Chr9:136514494 [GRCh38]
Chr9:139408946 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.1788G>A (p.Thr596=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001443527]|Aortic valve disease 1 [RCV002270867]|not provided [RCV000899439] |
Chr9:136515598 [GRCh38]
Chr9:139410050 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3861C>T (p.Arg1287=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001451166]|Aortic valve disease 1 [RCV002270904]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315110] |
Chr9:136506756 [GRCh38]
Chr9:139401208 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7200A>G (p.Ala2400=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003278944]|not specified [RCV000605717] |
Chr9:136496539 [GRCh38]
Chr9:139390991 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1441+11C>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001860325]|not specified [RCV000606872] |
Chr9:136517741 [GRCh38]
Chr9:139412193 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2207+15C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002064260]|Aortic valve disease 1 [RCV002270842]|Aortic valve disease 1 [RCV002491281]|not provided [RCV001580095]|not specified [RCV000609786] |
Chr9:136514495 [GRCh38]
Chr9:139408947 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.456T>C (p.Gly152=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002531525]|Familial thoracic aortic aneurysm and aortic dissection [RCV002341568]|not specified [RCV000609888] |
Chr9:136523136 [GRCh38]
Chr9:139417588 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4015-7C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000869230]|Aortic valve disease 1 [RCV002270801]|not specified [RCV000615835] |
Chr9:136505888 [GRCh38]
Chr9:139400340 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1510C>T (p.Arg504Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000559630]|Aortic valve disease 1 [RCV002270673]|Familial thoracic aortic aneurysm and aortic dissection [RCV002395494]|not provided [RCV001557872] |
Chr9:136517317 [GRCh38]
Chr9:139411769 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.4927G>A (p.Ala1643Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002531841]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315089]|not provided [RCV001548292] |
Chr9:136504764 [GRCh38]
Chr9:139399216 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.211G>A (p.Ala71Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002532811]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315081] |
Chr9:136523909 [GRCh38]
Chr9:139418361 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.7401G>T (p.Ser2467=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002315083]|not provided [RCV003886423] |
Chr9:136496338 [GRCh38]
Chr9:139390790 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5384+14G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002063126]|Aortic valve disease 1 [RCV002270762]|not specified [RCV000601757] |
Chr9:136502258 [GRCh38]
Chr9:139396710 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.3099C>T (p.Gly1033=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002270799]|Aortic valve disease 1 [RCV002270798]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315925]|not provided [RCV001698008] |
Chr9:136508942 [GRCh38]
Chr9:139403394 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2805C>T (p.Pro935=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655284]|Aortic valve disease 1 [RCV002270777]|Aortic valve disease 1 [RCV002506465]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798921]|not provided [RCV001580006] |
Chr9:136509897 [GRCh38]
Chr9:139404349 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2126A>G (p.His709Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000700557]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315107]|not provided [RCV001731813] |
Chr9:136514591 [GRCh38]
Chr9:139409043 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2564G>A (p.Cys855Tyr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586210]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315137] |
Chr9:136511175 [GRCh38]
Chr9:139405627 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2112C>T (p.Cys704=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655294]|Aortic valve disease 1 [RCV002270874]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315071]|not provided [RCV000842214] |
Chr9:136514605 [GRCh38]
Chr9:139409057 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6744C>T (p.Asn2248=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001469649]|Aortic valve disease 1 [RCV002270872]|Connective tissue disorder [RCV000680582]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769584]|not provided [RCV000842227] |
Chr9:136496995 [GRCh38]
Chr9:139391447 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.140+20del |
deletion |
Adams-Oliver syndrome 5 [RCV003748251]|not specified [RCV000601785] |
Chr9:136544004 [GRCh38]
Chr9:139438456 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5438G>T (p.Trp1813Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001202314]|Aortic valve disease 1 [RCV002270913]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315126] |
Chr9:136502035 [GRCh38]
Chr9:139396487 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.6181-15G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002531625]|not specified [RCV000612813] |
Chr9:136497573 [GRCh38]
Chr9:139392025 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6180+8C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001868058]|not specified [RCV000616013] |
Chr9:136498891 [GRCh38]
Chr9:139393343 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.404-13C>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002065380]|Aortic valve disease 1 [RCV002270810]|not provided [RCV001698075] |
Chr9:136523201 [GRCh38]
Chr9:139417653 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6153G>A (p.Gly2051=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000537477]|Familial thoracic aortic aneurysm and aortic dissection [RCV002358629]|not specified [RCV003403344] |
Chr9:136498926 [GRCh38]
Chr9:139393378 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7568C>T (p.Ser2523Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002270889]|Aortic valve disease 1 [RCV002270888]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315093]|not provided [RCV001770555] |
Chr9:136496171 [GRCh38]
Chr9:139390623 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.411G>A (p.Ser137=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002270805]|Aortic valve disease 1 [RCV002270804]|Familial thoracic aortic aneurysm and aortic dissection [RCV002325168]|not specified [RCV000600576] |
Chr9:136523181 [GRCh38]
Chr9:139417633 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2295C>T (p.Gly765=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586203]|not provided [RCV001698101] |
Chr9:136513450 [GRCh38]
Chr9:139407902 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.5168-15C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586202]|not specified [RCV000616063] |
Chr9:136502503 [GRCh38]
Chr9:139396955 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3012G>A (p.Ser1004=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001462060]|Aortic valve disease 1 [RCV002270750]|Familial thoracic aortic aneurysm and aortic dissection [RCV003160083]|NOTCH1-related condition [RCV003915776]|not provided [RCV003311860]|not specified [RCV000616173] |
Chr9:136509029 [GRCh38]
Chr9:139403481 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2148G>A (p.Glu716=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000862593]|Aortic valve disease 1 [RCV002270840]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170163]|not provided [RCV001532186] |
Chr9:136514569 [GRCh38]
Chr9:139409021 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5721G>A (p.Pro1907=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002529432]|Familial thoracic aortic aneurysm and aortic dissection [RCV002350453]|not provided [RCV001697351] |
Chr9:136500765 [GRCh38]
Chr9:139395217 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.6743A>C (p.Asn2248Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001226693]|Aortic valve disease 1 [RCV002270919]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315136] |
Chr9:136496996 [GRCh38]
Chr9:139391448 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1670-19C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002066869]|Aortic valve disease 1 [RCV002270866]|not provided [RCV001580069]|not specified [RCV000602010] |
Chr9:136515735 [GRCh38]
Chr9:139410187 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4548C>T (p.Phe1516=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000866670]|Aortic valve disease 1 [RCV002270880]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315080]|NOTCH1-related condition [RCV003980205]|not provided [RCV001591390]|not specified [RCV003330840] |
Chr9:136505348 [GRCh38]
Chr9:139399800 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.123T>C (p.Asn41=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002060678]|Aortic valve disease 1 [RCV002270892]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315099] |
Chr9:136544041 [GRCh38]
Chr9:139438493 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.1554G>A (p.Thr518=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001070380]|Familial thoracic aortic aneurysm and aortic dissection [RCV002404633]|not provided [RCV001722638] |
Chr9:136517273 [GRCh38]
Chr9:139411725 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5972G>A (p.Arg1991His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000555969]|Aortic valve disease 1 [RCV001563587] |
Chr9:136499222 [GRCh38]
Chr9:139393674 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.3190G>A (p.Asp1064Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000538087]|not provided [RCV001797107]|not specified [RCV001201312] |
Chr9:136508367 [GRCh38]
Chr9:139402819 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.956A>G (p.Tyr319Cys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002315088] |
Chr9:136518734 [GRCh38]
Chr9:139413186 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3192C>T (p.Asp1064=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748259]|not specified [RCV000613342] |
Chr9:136508365 [GRCh38]
Chr9:139402817 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2085C>T (p.Asp695=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001424223]|Aortic valve disease 1 [RCV002270679]|Connective tissue disorder [RCV000660149]|Familial thoracic aortic aneurysm and aortic dissection [RCV003302891]|NOTCH1-related condition [RCV003962620]|not provided [RCV000556336] |
Chr9:136514632 [GRCh38]
Chr9:139409084 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7606G>A (p.Val2536Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000560852]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770361]|NOTCH1-related condition [RCV003925739]|not provided [RCV001579455]|not specified [RCV000606453] |
Chr9:136496133 [GRCh38]
Chr9:139390585 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.1956G>A (p.Ser652=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000538412]|Aortic valve disease 1 [RCV002270677]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170166] |
Chr9:136515348 [GRCh38]
Chr9:139409800 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6082+10C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001445204]|Aortic valve disease 1 [RCV002270749]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798918]|NOTCH1-related condition [RCV003945478]|not specified [RCV000607877] |
Chr9:136499102 [GRCh38]
Chr9:139393554 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2015-14C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748252]|not specified [RCV000602556] |
Chr9:136514716 [GRCh38]
Chr9:139409168 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5934+13T>C |
single nucleotide variant |
not specified [RCV000610655] |
Chr9:136500539 [GRCh38]
Chr9:139394991 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5168-5C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001456765]|Aortic valve disease 1 [RCV002270848]|Connective tissue disorder [RCV000660172]|not specified [RCV000613369] |
Chr9:136502493 [GRCh38]
Chr9:139396945 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.5892G>A (p.Pro1964=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001399210]|Aortic valve disease 1 [RCV002270770]|Familial thoracic aortic aneurysm and aortic dissection [RCV002358688]|not provided [RCV001707759] |
Chr9:136500594 [GRCh38]
Chr9:139395046 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3552C>T (p.Ile1184=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586200]|Familial thoracic aortic aneurysm and aortic dissection [RCV002456370]|not provided [RCV001697912] |
Chr9:136507396 [GRCh38]
Chr9:139401848 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2291A>G (p.Asn764Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000534147]|Aortic valve disease 1 [RCV002270682]|Familial thoracic aortic aneurysm and aortic dissection [RCV002448805]|not provided [RCV001770493] |
Chr9:136513454 [GRCh38]
Chr9:139407906 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.61+14C>T |
single nucleotide variant |
not specified [RCV000608009] |
Chr9:136545712 [GRCh38]
Chr9:139440164 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.743-18C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586201]|not specified [RCV000613626] |
Chr9:136519583 [GRCh38]
Chr9:139414035 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.2191C>T (p.Arg731Trp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000557195]|Aortic valve disease 1 [RCV002270680]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315045]|not provided [RCV001731786] |
Chr9:136514526 [GRCh38]
Chr9:139408978 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.5118C>T (p.Leu1706=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655285]|Aortic valve disease 1 [RCV002270809]|Familial thoracic aortic aneurysm and aortic dissection [RCV002333989]|not specified [RCV000608242] |
Chr9:136503231 [GRCh38]
Chr9:139397683 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5865C>T (p.Asn1955=) |
single nucleotide variant |
not specified [RCV000608336] |
Chr9:136500621 [GRCh38]
Chr9:139395073 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6180+9G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655300]|Aortic valve disease 1 [RCV002270834]|NOTCH1-related condition [RCV003905629]|not specified [RCV000610893] |
Chr9:136498890 [GRCh38]
Chr9:139393342 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.540C>T (p.Asn180=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002350444]|not specified [RCV000610931] |
Chr9:136523052 [GRCh38]
Chr9:139417504 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5385-18C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002063259]|Aortic valve disease 1 [RCV002270773]|not specified [RCV000611023] |
Chr9:136502106 [GRCh38]
Chr9:139396558 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.708G>A (p.Thr236=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001049003]|Familial thoracic aortic aneurysm and aortic dissection [RCV002368100]|not specified [RCV000613693] |
Chr9:136522884 [GRCh38]
Chr9:139417336 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2244C>A (p.Thr748=) |
single nucleotide variant |
not specified [RCV000613713] |
Chr9:136513501 [GRCh38]
Chr9:139407953 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5160C>T (p.Ala1720=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001456391]|Aortic valve disease 1 [RCV002270789]|not specified [RCV000616934] |
Chr9:136503189 [GRCh38]
Chr9:139397641 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3511-11C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002063083]|Aortic valve disease 1 [RCV002270753]|not specified [RCV000616957] |
Chr9:136507448 [GRCh38]
Chr9:139401900 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.2340G>A (p.Arg780=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000534934] |
Chr9:136513405 [GRCh38]
Chr9:139407857 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1625A>C (p.Lys542Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003292727] |
Chr9:136516025 [GRCh38]
Chr9:139410477 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2741-12G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002062175]|Aortic valve disease 1 [RCV002270724]|not specified [RCV000611098] |
Chr9:136509973 [GRCh38]
Chr9:139404425 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5384+13C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002062184]|Aortic valve disease 1 [RCV002270725]|not specified [RCV000611219] |
Chr9:136502259 [GRCh38]
Chr9:139396711 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.1100-7T>C |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000557774]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769609] |
Chr9:136518299 [GRCh38]
Chr9:139412751 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2092A>G (p.Asn698Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003278134] |
Chr9:136514625 [GRCh38]
Chr9:139409077 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5950C>T (p.Arg1984Ter) |
single nucleotide variant |
Aortic valve disease 1 [RCV003444001]|Inborn genetic diseases [RCV000623489]|KA-like vemurafenib-induced squamous lesions [RCV001849412] |
Chr9:136499244 [GRCh38]
Chr9:139393696 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.6181-7C>T |
single nucleotide variant |
not specified [RCV000608556] |
Chr9:136497565 [GRCh38]
Chr9:139392017 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2718C>T (p.Thr906=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000866623]|Aortic valve disease 1 [RCV002270792]|Familial thoracic aortic aneurysm and aortic dissection [RCV002431788]|NOTCH1-related condition [RCV003945509]|not provided [RCV001697984] |
Chr9:136510675 [GRCh38]
Chr9:139405127 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1555+16G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002064003]|Aortic valve disease 1 [RCV002270784]|not specified [RCV000608648] |
Chr9:136517256 [GRCh38]
Chr9:139411708 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3015C>T (p.Phe1005=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003117382]|Familial thoracic aortic aneurysm and aortic dissection [RCV002438556]|not specified [RCV000608944] |
Chr9:136509026 [GRCh38]
Chr9:139403478 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.404-5T>C |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001496944]|Aortic valve disease 1 [RCV002270752]|not specified [RCV000609041] |
Chr9:136523193 [GRCh38]
Chr9:139417645 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5184G>A (p.Pro1728=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001452604]|Aortic valve disease 1 [RCV002270828]|Familial thoracic aortic aneurysm and aortic dissection [RCV002333992]|not specified [RCV000614465] |
Chr9:136502472 [GRCh38]
Chr9:139396924 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3915G>A (p.Glu1305=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001394287]|Aortic valve disease 1 [RCV002270788]|not specified [RCV000614490] |
Chr9:136506626 [GRCh38]
Chr9:139401078 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.5445C>T (p.Asp1815=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000535931]|Aortic valve disease 1 [RCV002270702]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315056]|not specified [RCV000599705] |
Chr9:136502028 [GRCh38]
Chr9:139396480 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.622G>A (p.Ala208Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655223] |
Chr9:136522970 [GRCh38]
Chr9:139417422 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6275A>C (p.His2092Pro) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655225] |
Chr9:136497464 [GRCh38]
Chr9:139391916 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4686G>A (p.Ala1562=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655226] |
Chr9:136505005 [GRCh38]
Chr9:139399457 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2636G>T (p.Arg879Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655227]|Familial thoracic aortic aneurysm and aortic dissection [RCV002424554] |
Chr9:136510757 [GRCh38]
Chr9:139405209 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3100G>A (p.Gly1034Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655228]|Familial thoracic aortic aneurysm and aortic dissection [RCV002325329] |
Chr9:136508941 [GRCh38]
Chr9:139403393 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2207+7G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655229] |
Chr9:136514503 [GRCh38]
Chr9:139408955 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2359A>G (p.Asn787Asp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655230]|Familial thoracic aortic aneurysm and aortic dissection [RCV003163024]|not provided [RCV003133475] |
Chr9:136513129 [GRCh38]
Chr9:139407581 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5195C>T (p.Ala1732Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655231] |
Chr9:136502461 [GRCh38]
Chr9:139396913 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2318G>C (p.Ser773Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655232] |
Chr9:136513427 [GRCh38]
Chr9:139407879 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6457G>A (p.Val2153Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655235] |
Chr9:136497282 [GRCh38]
Chr9:139391734 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5285G>A (p.Arg1762Gln) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655237] |
Chr9:136502371 [GRCh38]
Chr9:139396823 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6343G>A (p.Glu2115Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655239] |
Chr9:136497396 [GRCh38]
Chr9:139391848 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4699G>A (p.Glu1567Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655240] |
Chr9:136504992 [GRCh38]
Chr9:139399444 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3269C>G (p.Thr1090Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655241]|not provided [RCV003226964] |
Chr9:136508288 [GRCh38]
Chr9:139402740 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.707C>T (p.Thr236Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655242]|Aortic valve disease 1 [RCV002270938]|not provided [RCV001756111] |
Chr9:136522885 [GRCh38]
Chr9:139417337 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.2863C>T (p.Arg955Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655243]|Familial thoracic aortic aneurysm and aortic dissection [RCV002440398]|not provided [RCV001771914] |
Chr9:136509839 [GRCh38]
Chr9:139404291 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1094G>A (p.Arg365His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655244]|Aortic valve disease 1 [RCV002270939]|not provided [RCV001584514] |
Chr9:136518596 [GRCh38]
Chr9:139413048 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.1837C>T (p.Arg613Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655247]|Aortic valve disease 1 [RCV002270940]|not provided [RCV001552731] |
Chr9:136515549 [GRCh38]
Chr9:139410001 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.6784G>A (p.Gly2262Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655248]|not provided [RCV003480745] |
Chr9:136496955 [GRCh38]
Chr9:139391407 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4640A>G (p.Gln1547Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655249]|Familial thoracic aortic aneurysm and aortic dissection [RCV002334215] |
Chr9:136505051 [GRCh38]
Chr9:139399503 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1582G>A (p.Asp528Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655250]|Aortic valve disease 1 [RCV002270925] |
Chr9:136516068 [GRCh38]
Chr9:139410520 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2365C>T (p.Gln789Ter) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655251] |
Chr9:136513123 [GRCh38]
Chr9:139407575 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.3266G>A (p.Trp1089Ter) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655252] |
Chr9:136508291 [GRCh38]
Chr9:139402743 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.1904-3C>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655254] |
Chr9:136515403 [GRCh38]
Chr9:139409855 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6463G>A (p.Gly2155Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655255] |
Chr9:136497276 [GRCh38]
Chr9:139391728 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1918A>G (p.Ile640Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655256] |
Chr9:136515386 [GRCh38]
Chr9:139409838 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3954T>A (p.Asn1318Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655257]|Aortic valve disease 1 [RCV002270941]|Familial thoracic aortic aneurysm and aortic dissection [RCV002352063]|not provided [RCV001584515] |
Chr9:136506587 [GRCh38]
Chr9:139401039 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.2014+6C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655258]|not provided [RCV001562268] |
Chr9:136515284 [GRCh38]
Chr9:139409736 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3829G>A (p.Asp1277Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655260] |
Chr9:136506788 [GRCh38]
Chr9:139401240 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2666G>T (p.Gly889Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655261] |
Chr9:136510727 [GRCh38]
Chr9:139405179 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6083-4G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002062991]|Aortic valve disease 1 [RCV002270741]|not provided [RCV001580037]|not specified [RCV000609160] |
Chr9:136499000 [GRCh38]
Chr9:139393452 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.3644-17G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002063332]|Aortic valve disease 1 [RCV002270776]|not specified [RCV000609234] |
Chr9:136506990 [GRCh38]
Chr9:139401442 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4049G>C (p.Arg1350Pro) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655263]|Aortic valve disease 1 [RCV002270942]|not provided [RCV001731849] |
Chr9:136505847 [GRCh38]
Chr9:139400299 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4271T>C (p.Leu1424Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655264]|Adams-Oliver syndrome 5 [RCV001535555] |
Chr9:136505625 [GRCh38]
Chr9:139400077 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance|not provided |
| NM_017617.5(NOTCH1):c.1250C>T (p.Ser417Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655265]|Aortic valve disease 1 [RCV001281020]|Aortic valve disease 1 [RCV002270943]|Familial thoracic aortic aneurysm and aortic dissection [RCV002406493]|not provided [RCV001766427] |
Chr9:136518142 [GRCh38]
Chr9:139412594 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.2207+5G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655266]|Aortic valve disease 1 [RCV002270944]|not provided [RCV001771915] |
Chr9:136514505 [GRCh38]
Chr9:139408957 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3788G>A (p.Arg1263His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655268]|Aortic valve disease 1 [RCV002270945]|Aortic valve disease 1 [RCV002493062]|Familial thoracic aortic aneurysm and aortic dissection [RCV002343398]|not provided [RCV001546444] |
Chr9:136506829 [GRCh38]
Chr9:139401281 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.6149A>G (p.Asn2050Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655269]|Familial thoracic aortic aneurysm and aortic dissection [RCV002352064] |
Chr9:136498930 [GRCh38]
Chr9:139393382 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5716G>A (p.Ala1906Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655270] |
Chr9:136500770 [GRCh38]
Chr9:139395222 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3901G>A (p.Gly1301Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655271]|not provided [RCV003117457] |
Chr9:136506716 [GRCh38]
Chr9:139401168 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5777G>A (p.Arg1926His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655272] |
Chr9:136500709 [GRCh38]
Chr9:139395161 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6396G>A (p.Thr2132=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655273] |
Chr9:136497343 [GRCh38]
Chr9:139391795 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.975C>T (p.Asn325=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655276]|Aortic valve disease 1 [RCV002270946]|Connective tissue disorder [RCV000680597]|Familial thoracic aortic aneurysm and aortic dissection [RCV002386125]|not provided [RCV003424260] |
Chr9:136518715 [GRCh38]
Chr9:139413167 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.4143C>T (p.Pro1381=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001463533]|Aortic valve disease 1 [RCV002270947]|Familial thoracic aortic aneurysm and aortic dissection [RCV002331279]|not provided [RCV000655277] |
Chr9:136505753 [GRCh38]
Chr9:139400205 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6321C>T (p.His2107=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001467918]|Aortic valve disease 1 [RCV002270948]|Familial thoracic aortic aneurysm and aortic dissection [RCV002360671]|not provided [RCV000655278] |
Chr9:136497418 [GRCh38]
Chr9:139391870 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6111C>T (p.Ala2037=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655279] |
Chr9:136498968 [GRCh38]
Chr9:139393420 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1185G>A (p.Lys395=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655281] |
Chr9:136518207 [GRCh38]
Chr9:139412659 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4263C>T (p.Asn1421=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655299]|Aortic valve disease 1 [RCV002270951]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798953] |
Chr9:136505633 [GRCh38]
Chr9:139400085 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7161A>T (p.Pro2387=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655298] |
Chr9:136496578 [GRCh38]
Chr9:139391030 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4374G>A (p.Ala1458=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655296]|Familial thoracic aortic aneurysm and aortic dissection [RCV002331280]|NOTCH1-related condition [RCV003938003] |
Chr9:136505522 [GRCh38]
Chr9:139399974 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3663C>T (p.Asn1221=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001452475]|Aortic valve disease 1 [RCV002270950]|Familial thoracic aortic aneurysm and aortic dissection [RCV001171108] |
Chr9:136506954 [GRCh38]
Chr9:139401406 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6993A>G (p.Ala2331=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655292] |
Chr9:136496746 [GRCh38]
Chr9:139391198 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5115G>A (p.Ala1705=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002534227]|Familial thoracic aortic aneurysm and aortic dissection [RCV003303084] |
Chr9:136503234 [GRCh38]
Chr9:139397686 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3582C>T (p.Asn1194=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655290] |
Chr9:136507366 [GRCh38]
Chr9:139401818 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.501A>T (p.Pro167=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655287] |
Chr9:136523091 [GRCh38]
Chr9:139417543 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5781G>A (p.Thr1927=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655286]|Aortic valve disease 1 [RCV002270949]|Familial thoracic aortic aneurysm and aortic dissection [RCV002352065]|NOTCH1-related condition [RCV003965417]|not provided [RCV001584516] |
Chr9:136500705 [GRCh38]
Chr9:139395157 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6177C>T (p.Asn2059=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655283] |
Chr9:136498902 [GRCh38]
Chr9:139393354 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6976C>T (p.Leu2326=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001439373] |
Chr9:136496763 [GRCh38]
Chr9:139391215 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4101G>A (p.Pro1367=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001448249]|Aortic valve disease 1 [RCV002270821]|Aortic valve disease 1 [RCV002491273]|Familial thoracic aortic aneurysm and aortic dissection [RCV002325171]|not provided [RCV000655275] |
Chr9:136505795 [GRCh38]
Chr9:139400247 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5284C>T (p.Arg1762Trp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000558986]|Aortic valve disease 1 [RCV002270701]|not provided [RCV001770496] |
Chr9:136502372 [GRCh38]
Chr9:139396824 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4056C>T (p.Cys1352=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000536502]|Aortic valve disease 1 [RCV001335843]|Familial thoracic aortic aneurysm and aortic dissection [RCV001171104]|NOTCH1-related condition [RCV003925738]|not provided [RCV001704685]|not specified [RCV003330796] |
Chr9:136505840 [GRCh38]
Chr9:139400292 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2853T>C (p.Ser951=) |
single nucleotide variant |
not specified [RCV000605032] |
Chr9:136509849 [GRCh38]
Chr9:139404301 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1556-12C>T |
single nucleotide variant |
not specified [RCV000605084] |
Chr9:136516106 [GRCh38]
Chr9:139410558 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.114A>G (p.Glu38=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001488804]|Aortic valve disease 1 [RCV002270775]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315912]|not specified [RCV000602206] |
Chr9:136544050 [GRCh38]
Chr9:139438502 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.7033G>A (p.Gly2345Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002270898]|Aortic valve disease 1 [RCV002270897]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315102]|not provided [RCV001591391] |
Chr9:136496706 [GRCh38]
Chr9:139391158 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5208C>T (p.Phe1736=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002531840]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315087] |
Chr9:136502448 [GRCh38]
Chr9:139396900 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.4344G>A (p.Ala1448=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002060680]|Aortic valve disease 1 [RCV002270905]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315111] |
Chr9:136505552 [GRCh38]
Chr9:139400004 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2753A>G (p.Asn918Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655233]|Aortic valve disease 1 [RCV002270923]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315142] |
Chr9:136509949 [GRCh38]
Chr9:139404401 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.4793G>A (p.Arg1598His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655234]|Aortic valve disease 1 [RCV002270890]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315097]|not provided [RCV001653955] |
Chr9:136504898 [GRCh38]
Chr9:139399350 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) |
copy number gain |
Global developmental delay [RCV000626548] |
Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.6591C>G (p.Leu2197=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002315120] |
Chr9:136497148 [GRCh38]
Chr9:139391600 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4077C>T (p.Asn1359=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000863782]|Aortic valve disease 1 [RCV002270879]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315079]|not provided [RCV001559847] |
Chr9:136505819 [GRCh38]
Chr9:139400271 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.3679C>T (p.Pro1227Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000806940]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315132]|NOTCH1-related condition [RCV003420072]|not provided [RCV001556320] |
Chr9:136506938 [GRCh38]
Chr9:139401390 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2654A>G (p.Gln885Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001445220]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315119]|NOTCH1-related condition [RCV003935733] |
Chr9:136510739 [GRCh38]
Chr9:139405191 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6975T>C (p.Pro2325=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000861985]|Aortic valve disease 1 [RCV002270771]|Familial thoracic aortic aneurysm and aortic dissection [RCV002368055]|not provided [RCV001697462]|not specified [RCV003987620] |
Chr9:136496764 [GRCh38]
Chr9:139391216 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.6822C>A (p.Ser2274=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000867446]|Aortic valve disease 1 [RCV002270742]|Familial thoracic aortic aneurysm and aortic dissection [RCV002368047]|not specified [RCV000603924] |
Chr9:136496917 [GRCh38]
Chr9:139391369 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2916C>T (p.Pro972=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002060681]|Aortic valve disease 1 [RCV002270908]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315115] |
Chr9:136509786 [GRCh38]
Chr9:139404238 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.2353+15C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002529570]|not specified [RCV000599787] |
Chr9:136513377 [GRCh38]
Chr9:139407829 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4326G>A (p.Pro1442=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000866208]|Aortic valve disease 1 [RCV002270743]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315900]|NOTCH1-related condition [RCV003905587]|not specified [RCV000599817] |
Chr9:136505570 [GRCh38]
Chr9:139400022 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.7667A>G (p.Ter2556=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003767815]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315075] |
Chr9:136496072 [GRCh38]
Chr9:139390524 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1689C>T (p.Cys563=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002060675]|Aortic valve disease 1 [RCV002270875]|Connective tissue disorder [RCV000680596]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315072]|NOTCH1-related condition [RCV003905666]|not specified [RCV003323642] |
Chr9:136515697 [GRCh38]
Chr9:139410149 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.2674C>T (p.Arg892Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000692753]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315121] |
Chr9:136510719 [GRCh38]
Chr9:139405171 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5215G>A (p.Val1739Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001470049]|Aortic valve disease 1 [RCV001198164]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315073]|Narrow palate [RCV000626939]|not provided [RCV002060676] |
Chr9:136502441 [GRCh38]
Chr9:139396893 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1904-16C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002063029]|Aortic valve disease 1 [RCV002270745]|not specified [RCV000607527] |
Chr9:136515416 [GRCh38]
Chr9:139409868 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3326-16A>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002063106]|Aortic valve disease 1 [RCV002270759]|not specified [RCV000604661] |
Chr9:136508155 [GRCh38]
Chr9:139402607 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6454G>A (p.Gly2152Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001868074]|Familial thoracic aortic aneurysm and aortic dissection [RCV002368103]|not provided [RCV001698487] |
Chr9:136497285 [GRCh38]
Chr9:139391737 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6284G>T (p.Arg2095Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002270887]|Aortic valve disease 1 [RCV002270886]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315092]|not provided [RCV001756010] |
Chr9:136497455 [GRCh38]
Chr9:139391907 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5100C>T (p.Ala1700=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000893329]|Aortic valve disease 1 [RCV002270800]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315926]|not specified [RCV000605172] |
Chr9:136503249 [GRCh38]
Chr9:139397701 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.59G>T (p.Arg20Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001855279]|Aortic valve disease 1 [RCV002270877]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315077] |
Chr9:136545728 [GRCh38]
Chr9:139440180 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6082+18C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002066849]|Aortic valve disease 1 [RCV002270865]|not specified [RCV000605283] |
Chr9:136499094 [GRCh38]
Chr9:139393546 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2107C>T (p.Arg703Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002531842]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315095] |
Chr9:136514610 [GRCh38]
Chr9:139409062 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2705G>A (p.Arg902His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001855282]|Aortic valve disease 1 [RCV002270916]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315130]|not provided [RCV001591392] |
Chr9:136510688 [GRCh38]
Chr9:139405140 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.4829C>T (p.Ala1610Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000552023] |
Chr9:136504862 [GRCh38]
Chr9:139399314 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7386C>T (p.Pro2462=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002063076]|Aortic valve disease 1 [RCV002270751]|Aortic valve disease 1 [RCV002498910]|NOTCH1-related condition [RCV003892333]|not provided [RCV001697453] |
Chr9:136496353 [GRCh38]
Chr9:139390805 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3001G>A (p.Gly1001Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000796996]|Aortic valve disease 1 [RCV002270910]|Aortic valve disease 1 [RCV002483734]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315122]|not provided [RCV001557407] |
Chr9:136509040 [GRCh38]
Chr9:139403492 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.2576C>T (p.Thr859Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655238]|Aortic valve disease 1 [RCV002270922]|Aortic valve disease 1 [RCV002483735]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315141]|NOTCH1-related condition [RCV003980206]|not provided [RCV001558346] |
Chr9:136511163 [GRCh38]
Chr9:139405615 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.6983G>A (p.Gly2328Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002315096] |
Chr9:136496756 [GRCh38]
Chr9:139391208 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.18G>A (p.Ala6=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002315133] |
Chr9:136545769 [GRCh38]
Chr9:139440221 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1096A>G (p.Thr366Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002315131] |
Chr9:136518594 [GRCh38]
Chr9:139413046 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7569G>A (p.Ser2523=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000655288]|Aortic valve disease 1 [RCV002270882]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315085]|not provided [RCV001568613] |
Chr9:136496170 [GRCh38]
Chr9:139390622 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.632C>G (p.Thr211Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001219136]|Aortic valve disease 1 [RCV002270901]|Aortic valve disease 1 [RCV003483690]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315105]|not provided [RCV002248818] |
Chr9:136522960 [GRCh38]
Chr9:139417412 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_017617.5(NOTCH1):c.1669+5G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000662247]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315118] |
Chr9:136515976 [GRCh38]
Chr9:139410428 [GRCh37]
Chr9:9q34.3 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.7387G>A (p.Ala2463Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001458130]|Aortic valve disease 1 [RCV001335848]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315934]|NOTCH1-related condition [RCV003905642]|not provided [RCV001698048] |
Chr9:136496352 [GRCh38]
Chr9:139390804 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.949G>A (p.Gly317Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001860404]|Aortic valve disease 1 [RCV002270912]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315125]|not provided [RCV001771834] |
Chr9:136518741 [GRCh38]
Chr9:139413193 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.597C>T (p.Val199=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001455976]|Aortic valve disease 1 [RCV002270899]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315103]|not provided [RCV001570101] |
Chr9:136522995 [GRCh38]
Chr9:139417447 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1903+17G>T |
single nucleotide variant |
not specified [RCV000605830] |
Chr9:136515466 [GRCh38]
Chr9:139409918 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1815C>T (p.Asn605=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002060682]|Aortic valve disease 1 [RCV002270909]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315116] |
Chr9:136515571 [GRCh38]
Chr9:139410023 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.3643+10G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001441633]|Aortic valve disease 1 [RCV002270787]|not specified [RCV000605863] |
Chr9:136507295 [GRCh38]
Chr9:139401747 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3052del (p.Cys1018fs) |
deletion |
Inborn genetic diseases [RCV000622516] |
Chr9:136508989 [GRCh38]
Chr9:139403441 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.6768G>A (p.Ala2256=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002528614]|Familial thoracic aortic aneurysm and aortic dissection [RCV003485616]|not specified [RCV000606494] |
Chr9:136496971 [GRCh38]
Chr9:139391423 [GRCh37]
Chr9:9q34.3 |
likely benign |
| GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) |
copy number gain |
See cases [RCV000512392] |
Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.6069C>T (p.Ala2023=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001454557]|Aortic valve disease 1 [RCV002270765]|Familial thoracic aortic aneurysm and aortic dissection [RCV003160085]|not provided [RCV001707754] |
Chr9:136499125 [GRCh38]
Chr9:139393577 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.607C>A (p.Arg203Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003486460] |
Chr9:136522985 [GRCh38]
Chr9:139417437 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.794_797delinsCC (p.Asn265fs) |
indel |
Adams-Oliver syndrome 5 [RCV000662236] |
Chr9:136519511..136519514 [GRCh38]
Chr9:139413963..139413966 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.1935_1936del (p.Ala646fs) |
microsatellite |
Adams-Oliver syndrome 5 [RCV000662237] |
Chr9:136515368..136515369 [GRCh38]
Chr9:139409820..139409821 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.2380G>T (p.Glu794Ter) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000662248] |
Chr9:136513108 [GRCh38]
Chr9:139407560 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.4549G>A (p.Asp1517Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000662252]|not provided [RCV003223659] |
Chr9:136505347 [GRCh38]
Chr9:139399799 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic |
| NM_017617.5(NOTCH1):c.5724C>G (p.Ala1908=) |
single nucleotide variant |
Connective tissue disorder [RCV000660174] |
Chr9:136500762 [GRCh38]
Chr9:139395214 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7229C>T (p.Pro2410Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001069195]|Connective tissue disorder [RCV000660178]|Familial thoracic aortic aneurysm and aortic dissection [RCV002369784] |
Chr9:136496510 [GRCh38]
Chr9:139390962 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1664C>T (p.Thr555Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000803515]|Aortic valve disease 1 [RCV002270953]|not provided [RCV000658427] |
Chr9:136515986 [GRCh38]
Chr9:139410438 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.3281G>A (p.Cys1094Tyr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000662250] |
Chr9:136508276 [GRCh38]
Chr9:139402728 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.4241G>C (p.Cys1414Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000662254] |
Chr9:136505655 [GRCh38]
Chr9:139400107 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6100T>C (p.Trp2034Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000662256] |
Chr9:136498979 [GRCh38]
Chr9:139393431 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3262G>C (p.Gly1088Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001855363]|Aortic valve disease 1 [RCV002270952]|not provided [RCV000657938] |
Chr9:136508295 [GRCh38]
Chr9:139402747 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5901G>A (p.Ala1967=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000699968]|Familial thoracic aortic aneurysm and aortic dissection [RCV003163243]|not provided [RCV003424293] |
Chr9:136500585 [GRCh38]
Chr9:139395037 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6293G>A (p.Arg2098His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000686127] |
Chr9:136497446 [GRCh38]
Chr9:139391898 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4985G>A (p.Arg1662Gln) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001869058]|Aortic valve disease 1 [RCV000768033]|Aortic valve disease 1 [RCV002271020]|not provided [RCV001702558] |
Chr9:136504706 [GRCh38]
Chr9:139399158 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| Single allele |
duplication |
Seizure [RCV000677108] |
Chr9:139362970..139607528 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2458C>T (p.Pro820Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000693849]|Aortic valve disease 1 [RCV002270958]|Chronic adenoiditis [RCV000678730]|Familial thoracic aortic aneurysm and aortic dissection [RCV002442404]|not provided [RCV001546581] |
Chr9:136513030 [GRCh38]
Chr9:139407482 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.7482G>A (p.Val2494=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002531415]|Connective tissue disorder [RCV000680578] |
Chr9:136496257 [GRCh38]
Chr9:139390709 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3 |
copy number gain |
not provided [RCV000683160] |
Chr9:135105971..141020389 [GRCh37]
Chr9:9q34.13-34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.7232CAC[4] (p.Pro2415del) |
microsatellite |
Adams-Oliver syndrome 5 [RCV002066997]|Aortic valve disease 1 [RCV002270959]|Connective tissue disorder [RCV000680579]|Familial thoracic aortic aneurysm and aortic dissection [RCV003150328] |
Chr9:136496493..136496495 [GRCh38]
Chr9:139390945..139390947 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2354-14C>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586213]|Connective tissue disorder [RCV000680593] |
Chr9:136513148 [GRCh38]
Chr9:139407600 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6057C>T (p.Ala2019=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000865331]|Aortic valve disease 1 [RCV002270960]|Connective tissue disorder [RCV000680585]|Familial thoracic aortic aneurysm and aortic dissection [RCV003343986]|not provided [RCV001549628] |
Chr9:136499137 [GRCh38]
Chr9:139393589 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6758C>T (p.Pro2253Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748269]|Connective tissue disorder [RCV000680581] |
Chr9:136496981 [GRCh38]
Chr9:139391433 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3011C>T (p.Ser1004Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000868987]|Connective tissue disorder [RCV000680592]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170153]|NOTCH1-related condition [RCV003980306]|not provided [RCV001568838]|not specified [RCV003330897] |
Chr9:136509030 [GRCh38]
Chr9:139403482 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.2266G>A (p.Glu756Lys) |
single nucleotide variant |
Connective tissue disorder [RCV000680594] |
Chr9:136513479 [GRCh38]
Chr9:139407931 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1977C>A (p.Ile659=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001445219]|Aortic valve disease 1 [RCV002270962]|Connective tissue disorder [RCV000680595] |
Chr9:136515327 [GRCh38]
Chr9:139409779 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.3860G>A (p.Arg1287His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000690352]|Aortic valve disease 1 [RCV002270961]|Connective tissue disorder [RCV000680590]|not provided [RCV003432725] |
Chr9:136506757 [GRCh38]
Chr9:139401209 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2983G>A (p.Gly995Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000687952] |
Chr9:136509058 [GRCh38]
Chr9:139403510 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6229G>A (p.Ala2077Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000699543]|Familial thoracic aortic aneurysm and aortic dissection [RCV003163236] |
Chr9:136497510 [GRCh38]
Chr9:139391962 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4237C>A (p.Arg1413Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000706936]|Familial thoracic aortic aneurysm and aortic dissection [RCV002332514] |
Chr9:136505659 [GRCh38]
Chr9:139400111 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4795G>A (p.Val1599Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000704495]|Aortic valve disease 1 [RCV000766057]|Aortic valve disease 1 [RCV002270978] |
Chr9:136504896 [GRCh38]
Chr9:139399348 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.2908A>G (p.Thr970Ala) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000707223]|Aortic valve disease 1 [RCV002270987]|Familial thoracic aortic aneurysm and aortic dissection [RCV003303197]|not provided [RCV001571863] |
Chr9:136509794 [GRCh38]
Chr9:139404246 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.3417C>T (p.Gly1139=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000707294] |
Chr9:136508048 [GRCh38]
Chr9:139402500 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.389C>T (p.Pro130Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002534485]|NOTCH1-Related Disorders [RCV000709909] |
Chr9:136523731 [GRCh38]
Chr9:139418183 [GRCh37]
Chr9:9q34.3 |
benign|not provided |
| NM_017617.5(NOTCH1):c.4663G>A (p.Glu1555Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000702684]|Familial thoracic aortic aneurysm and aortic dissection [RCV002334364] |
Chr9:136505028 [GRCh38]
Chr9:139399480 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.301C>A (p.Pro101Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000705656] |
Chr9:136523819 [GRCh38]
Chr9:139418271 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.274G>C (p.Gly92Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000694054] |
Chr9:136523846 [GRCh38]
Chr9:139418298 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7130C>T (p.Pro2377Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000691648]|Aortic valve disease 1 [RCV002270967]|Familial thoracic aortic aneurysm and aortic dissection [RCV002360742]|not provided [RCV001547731] |
Chr9:136496609 [GRCh38]
Chr9:139391061 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.1109G>A (p.Cys370Tyr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000699375] |
Chr9:136518283 [GRCh38]
Chr9:139412735 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.102C>T (p.Gly34=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000705872] |
Chr9:136544062 [GRCh38]
Chr9:139438514 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5971C>T (p.Arg1991Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000699600]|NOTCH1-related condition [RCV003892556] |
Chr9:136499223 [GRCh38]
Chr9:139393675 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4071C>A (p.Cys1357Ter) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000685921] |
Chr9:136505825 [GRCh38]
Chr9:139400277 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.4336G>A (p.Glu1446Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000686188] |
Chr9:136505560 [GRCh38]
Chr9:139400012 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.7145C>T (p.Thr2382Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000689599] |
Chr9:136496594 [GRCh38]
Chr9:139391046 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3642G>A (p.Gln1214=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000706388]|Familial thoracic aortic aneurysm and aortic dissection [RCV002343570] |
Chr9:136507306 [GRCh38]
Chr9:139401758 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1815C>G (p.Asn605Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000692364] |
Chr9:136515571 [GRCh38]
Chr9:139410023 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1237G>A (p.Val413Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000700880]|Aortic valve disease 1 [RCV002270970]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769608] |
Chr9:136518155 [GRCh38]
Chr9:139412607 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.1441G>C (p.Gly481Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000694504] |
Chr9:136517752 [GRCh38]
Chr9:139412204 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6470A>C (p.Lys2157Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000697365] |
Chr9:136497269 [GRCh38]
Chr9:139391721 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3569A>G (p.His1190Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000697399]|Aortic valve disease 1 [RCV002270969]|Aortic valve disease 1 [RCV002485700]|Familial thoracic aortic aneurysm and aortic dissection [RCV003163215]|not provided [RCV001557790] |
Chr9:136507379 [GRCh38]
Chr9:139401831 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1682C>T (p.Thr561Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000687258]|Aortic valve disease 1 [RCV002493151]|Familial thoracic aortic aneurysm and aortic dissection [RCV002397373] |
Chr9:136515704 [GRCh38]
Chr9:139410156 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3250G>C (p.Glu1084Gln) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000701733] |
Chr9:136508307 [GRCh38]
Chr9:139402759 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6760G>A (p.Glu2254Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000697430]|Familial thoracic aortic aneurysm and aortic dissection [RCV003163217] |
Chr9:136496979 [GRCh38]
Chr9:139391431 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.7366A>G (p.Ile2456Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000687491] |
Chr9:136496373 [GRCh38]
Chr9:139390825 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5416A>G (p.Met1806Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000706747]|Aortic valve disease 1 [RCV002270986]|Aortic valve disease 1 [RCV002507239]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798967] |
Chr9:136502057 [GRCh38]
Chr9:139396509 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.16G>A (p.Ala6Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000697592] |
Chr9:136545771 [GRCh38]
Chr9:139440223 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4046C>T (p.Ala1349Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000687982] |
Chr9:136505850 [GRCh38]
Chr9:139400302 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4790G>T (p.Ser1597Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000690432] |
Chr9:136504901 [GRCh38]
Chr9:139399353 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1396del (p.Thr466fs) |
deletion |
Adams-Oliver syndrome 5 [RCV000693336] |
Chr9:136517797 [GRCh38]
Chr9:139412249 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.4C>G (p.Pro2Ala) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000693595] |
Chr9:136545783 [GRCh38]
Chr9:139440235 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3370G>A (p.Asp1124Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000705126] |
Chr9:136508095 [GRCh38]
Chr9:139402547 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6413C>T (p.Pro2138Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000705179] |
Chr9:136497326 [GRCh38]
Chr9:139391778 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.527_528delinsTT (p.Arg176Leu) |
indel |
Adams-Oliver syndrome 5 [RCV000696237] |
Chr9:136523064..136523065 [GRCh38]
Chr9:139417516..139417517 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4412C>T (p.Ala1471Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000705534] |
Chr9:136505484 [GRCh38]
Chr9:139399936 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1843G>A (p.Gly615Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000699565]|Familial thoracic aortic aneurysm and aortic dissection [RCV003150335] |
Chr9:136515543 [GRCh38]
Chr9:139409995 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1693G>A (p.Val565Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000696741] |
Chr9:136515693 [GRCh38]
Chr9:139410145 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7193A>G (p.Gln2398Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000703458] |
Chr9:136496546 [GRCh38]
Chr9:139390998 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7541_7542del (p.Pro2514fs) |
deletion |
Adams-Oliver syndrome 5 [RCV000705932]|Aortic valve disease 1 [RCV002270983]|not provided [RCV000788171] |
Chr9:136496197..136496198 [GRCh38]
Chr9:139390649..139390650 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3741G>C (p.Gln1247His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000694420]|Familial thoracic aortic aneurysm and aortic dissection [RCV002343485]|not provided [RCV002510959] |
Chr9:136506876 [GRCh38]
Chr9:139401328 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6897C>T (p.Gly2299=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000703583]|not provided [RCV001572040] |
Chr9:136496842 [GRCh38]
Chr9:139391294 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4348G>A (p.Glu1450Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000697092]|Aortic valve disease 1 [RCV002270968]|Familial thoracic aortic aneurysm and aortic dissection [RCV002332463]|not provided [RCV001547938]|not specified [RCV003403619] |
Chr9:136505548 [GRCh38]
Chr9:139400000 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.4049G>A (p.Arg1350His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000689421]|Familial thoracic aortic aneurysm and aortic dissection [RCV002325370]|not provided [RCV002245589] |
Chr9:136505847 [GRCh38]
Chr9:139400299 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3334G>A (p.Val1112Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000706361]|Aortic valve disease 1 [RCV001281019]|Familial thoracic aortic aneurysm and aortic dissection [RCV002325430]|not provided [RCV001537475] |
Chr9:136508131 [GRCh38]
Chr9:139402583 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| GRCh37/hg19 9q34.3(chr9:139371940-139424343)x3 |
copy number gain |
not provided [RCV000753194] |
Chr9:139371940..139424343 [GRCh37]
Chr9:9q34.3 |
benign |
| GRCh37/hg19 9q34.3(chr9:139374952-139418309)x3 |
copy number gain |
not provided [RCV000753195] |
Chr9:139374952..139418309 [GRCh37]
Chr9:9q34.3 |
benign |
| GRCh37/hg19 9q34.3(chr9:139378932-139425634)x3 |
copy number gain |
not provided [RCV000753198] |
Chr9:139378932..139425634 [GRCh37]
Chr9:9q34.3 |
benign |
| GRCh37/hg19 9q34.3(chr9:139390822-139391737)x1 |
copy number loss |
not provided [RCV000753199] |
Chr9:139390822..139391737 [GRCh37]
Chr9:9q34.3 |
benign |
| GRCh37/hg19 9q34.3(chr9:139371049-139418309)x3 |
copy number gain |
not provided [RCV000753193] |
Chr9:139371049..139418309 [GRCh37]
Chr9:9q34.3 |
benign |
| GRCh37/hg19 9q34.3(chr9:139375962-139427066)x3 |
copy number gain |
not provided [RCV000753196] |
Chr9:139375962..139427066 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.6180+151C>T |
single nucleotide variant |
not provided [RCV001546897] |
Chr9:136498748 [GRCh38]
Chr9:139393200 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6061G>A (p.Val2021Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000806126]|NOTCH1-related condition [RCV003413616] |
Chr9:136499133 [GRCh38]
Chr9:139393585 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1747G>A (p.Gly583Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000794046]|Aortic valve disease 1 [RCV002271024]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769601]|not provided [RCV001759450] |
Chr9:136515639 [GRCh38]
Chr9:139410091 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 9q34.3(chr9:139371031-139418309)x3 |
copy number gain |
not provided [RCV000753192] |
Chr9:139371031..139418309 [GRCh37]
Chr9:9q34.3 |
benign |
| GRCh37/hg19 9q34.3(chr9:139390822-139403378)x1 |
copy number loss |
not provided [RCV000753200] |
Chr9:139390822..139403378 [GRCh37]
Chr9:9q34.3 |
benign |
| GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 |
copy number gain |
not provided [RCV000748055] |
Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9q34.3(chr9:137816459-141114095)x1 |
copy number loss |
not provided [RCV000748787] |
Chr9:137816459..141114095 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 |
copy number gain |
not provided [RCV000748053] |
Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 |
copy number gain |
not provided [RCV000748063] |
Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 |
copy number gain |
not provided [RCV000748054] |
Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.2587+74G>A |
single nucleotide variant |
not provided [RCV001609715] |
Chr9:136511078 [GRCh38]
Chr9:139405530 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.5384+10C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000937894] |
Chr9:136502262 [GRCh38]
Chr9:139396714 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5018+212G>A |
single nucleotide variant |
not provided [RCV001585583] |
Chr9:136504461 [GRCh38]
Chr9:139398913 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.865+4C>A |
single nucleotide variant |
not provided [RCV001585046] |
Chr9:136519439 [GRCh38]
Chr9:139413891 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3644-140T>C |
single nucleotide variant |
not provided [RCV001534402] |
Chr9:136507113 [GRCh38]
Chr9:139401565 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.2574C>T (p.Pro858=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001391718] |
Chr9:136511165 [GRCh38]
Chr9:139405617 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5853C>T (p.Ser1951=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000875159]|Aortic valve disease 1 [RCV002271100]|NOTCH1-related condition [RCV003895360]|not provided [RCV001593101] |
Chr9:136500633 [GRCh38]
Chr9:139395085 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2970-54G>A |
single nucleotide variant |
not provided [RCV001574728] |
Chr9:136509125 [GRCh38]
Chr9:139403577 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5682C>T (p.Gly1894=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001437106]|Familial thoracic aortic aneurysm and aortic dissection [RCV003169092]|not specified [RCV003323743] |
Chr9:136500804 [GRCh38]
Chr9:139395256 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6237G>A (p.Val2079=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001479632] |
Chr9:136497502 [GRCh38]
Chr9:139391954 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4587-55G>A |
single nucleotide variant |
not provided [RCV001564162] |
Chr9:136505159 [GRCh38]
Chr9:139399611 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1978G>A (p.Asp660Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001065653] |
Chr9:136515326 [GRCh38]
Chr9:139409778 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.512A>G (p.His171Arg) |
single nucleotide variant |
not provided [RCV003314924] |
Chr9:136523080 [GRCh38]
Chr9:139417532 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.649C>T (p.Arg217Trp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001044587]|Familial thoracic aortic aneurysm and aortic dissection [RCV002363592] |
Chr9:136522943 [GRCh38]
Chr9:139417395 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5724C>T (p.Ala1908=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002271267]|Aortic valve disease 1 [RCV002271266]|Aortic valve disease 1 [RCV002501918]|Familial thoracic aortic aneurysm and aortic dissection [RCV001799104]|not provided [RCV001570229] |
Chr9:136500762 [GRCh38]
Chr9:139395214 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.2741-51A>G |
single nucleotide variant |
not provided [RCV001643259] |
Chr9:136510012 [GRCh38]
Chr9:139404464 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.5138A>C (p.Asn1713Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001889014] |
Chr9:136503211 [GRCh38]
Chr9:139397663 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4742C>T (p.Pro1581Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002271270]|Aortic valve disease 1 [RCV002271269]|Familial thoracic aortic aneurysm and aortic dissection [RCV001799107]|not provided [RCV001575799] |
Chr9:136504949 [GRCh38]
Chr9:139399401 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3510+27T>G |
single nucleotide variant |
not provided [RCV001583287] |
Chr9:136507928 [GRCh38]
Chr9:139402380 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3778G>A (p.Val1260Met) |
single nucleotide variant |
not provided [RCV001576247] |
Chr9:136506839 [GRCh38]
Chr9:139401291 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2128G>A (p.Asp710Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001359412]|Aortic valve disease 1 [RCV002271162]|not provided [RCV000999292] |
Chr9:136514589 [GRCh38]
Chr9:139409041 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1924C>G (p.Leu642Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001056561]|Aortic valve disease 1 [RCV002271163]|not provided [RCV000999293] |
Chr9:136515380 [GRCh38]
Chr9:139409832 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.5019C>G (p.Gly1673=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001068326]|NOTCH1-related condition [RCV003963030] |
Chr9:136503330 [GRCh38]
Chr9:139397782 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6753C>G (p.Ala2251=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002541537]|Familial thoracic aortic aneurysm and aortic dissection [RCV002372575] |
Chr9:136496986 [GRCh38]
Chr9:139391438 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1845G>A (p.Gly615=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001457351] |
Chr9:136515541 [GRCh38]
Chr9:139409993 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5382C>G (p.Leu1794=) |
single nucleotide variant |
not provided [RCV000925029] |
Chr9:136502274 [GRCh38]
Chr9:139396726 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1296G>A (p.Thr432=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003307697]|not provided [RCV000925030] |
Chr9:136517897 [GRCh38]
Chr9:139412349 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1670-8C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000864977]|NOTCH1-related condition [RCV003955624] |
Chr9:136515724 [GRCh38]
Chr9:139410176 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2349C>T (p.Phe783=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000866492]|Familial thoracic aortic aneurysm and aortic dissection [RCV002442824]|not specified [RCV003330975] |
Chr9:136513396 [GRCh38]
Chr9:139407848 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.4086A>G (p.Thr1362=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001426039] |
Chr9:136505810 [GRCh38]
Chr9:139400262 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1986C>T (p.Tyr662=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000883219]|Familial thoracic aortic aneurysm and aortic dissection [RCV003169224] |
Chr9:136515318 [GRCh38]
Chr9:139409770 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5919A>G (p.Ala1973=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002065695] |
Chr9:136500567 [GRCh38]
Chr9:139395019 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5604C>T (p.Asp1868=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000864541]|Familial thoracic aortic aneurysm and aortic dissection [RCV002345963] |
Chr9:136501782 [GRCh38]
Chr9:139396234 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4467C>T (p.Asn1489=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000907032]|Aortic valve disease 1 [RCV002271111]|Familial thoracic aortic aneurysm and aortic dissection [RCV001799008] |
Chr9:136505429 [GRCh38]
Chr9:139399881 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.866-7C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000923144] |
Chr9:136518831 [GRCh38]
Chr9:139413283 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5397C>T (p.Asn1799=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000866745]|Familial thoracic aortic aneurysm and aortic dissection [RCV002345977] |
Chr9:136502076 [GRCh38]
Chr9:139396528 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5638+7G>C |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001451077]|Familial thoracic aortic aneurysm and aortic dissection [RCV003150366] |
Chr9:136501741 [GRCh38]
Chr9:139396193 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2394C>T (p.Asn798=) |
single nucleotide variant |
NOTCH1-related condition [RCV003895730]|not provided [RCV000943266] |
Chr9:136513094 [GRCh38]
Chr9:139407546 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1116C>G (p.Leu372=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001483240]|Familial thoracic aortic aneurysm and aortic dissection [RCV003307619]|NOTCH1-related condition [RCV003965718] |
Chr9:136518276 [GRCh38]
Chr9:139412728 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5373C>T (p.Ser1791=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000867702]|Familial thoracic aortic aneurysm and aortic dissection [RCV002345986] |
Chr9:136502283 [GRCh38]
Chr9:139396735 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4095C>T (p.Ser1365=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000869379]|Aortic valve disease 1 [RCV002271097]|Familial thoracic aortic aneurysm and aortic dissection [RCV002320002]|not provided [RCV001593087] |
Chr9:136505801 [GRCh38]
Chr9:139400253 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.1728C>T (p.His576=) |
single nucleotide variant |
not provided [RCV000869397] |
Chr9:136515658 [GRCh38]
Chr9:139410110 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.429G>A (p.Pro143=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002539071]|Familial thoracic aortic aneurysm and aortic dissection [RCV003307632]|not specified [RCV003489950] |
Chr9:136523163 [GRCh38]
Chr9:139417615 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1256-9C>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001464486] |
Chr9:136517946 [GRCh38]
Chr9:139412398 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5384+7G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748293] |
Chr9:136502265 [GRCh38]
Chr9:139396717 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7455C>A (p.Pro2485=) |
single nucleotide variant |
not provided [RCV000973034] |
Chr9:136496284 [GRCh38]
Chr9:139390736 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.672C>T (p.Pro224=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002271141]|Aortic valve disease 1 [RCV002271140]|not provided [RCV000973035] |
Chr9:136522920 [GRCh38]
Chr9:139417372 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3786G>A (p.Glu1262=) |
single nucleotide variant |
not provided [RCV000906305] |
Chr9:136506831 [GRCh38]
Chr9:139401283 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.351C>T (p.Cys117=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002271110]|Aortic valve disease 1 [RCV002271109]|not provided [RCV000903848] |
Chr9:136523769 [GRCh38]
Chr9:139418221 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.865+3G>A |
single nucleotide variant |
not provided [RCV000903853] |
Chr9:136519440 [GRCh38]
Chr9:139413892 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.3261C>T (p.Ser1087=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748298]|Familial thoracic aortic aneurysm and aortic dissection [RCV003307763] |
Chr9:136508296 [GRCh38]
Chr9:139402748 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.62-4del |
deletion |
not provided [RCV000899827] |
Chr9:136544106 [GRCh38]
Chr9:139438558 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7431C>T (p.Thr2477=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000945472]|Familial thoracic aortic aneurysm and aortic dissection [RCV002382171] |
Chr9:136496308 [GRCh38]
Chr9:139390760 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1275T>C (p.His425=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002064882] |
Chr9:136517918 [GRCh38]
Chr9:139412370 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2982C>T (p.Asn994=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000863972]|Aortic valve disease 1 [RCV002271087]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170154]|not provided [RCV001550167] |
Chr9:136509059 [GRCh38]
Chr9:139403511 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.2415G>A (p.Thr805=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001459432] |
Chr9:136513073 [GRCh38]
Chr9:139407525 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3723C>T (p.Asn1241=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001434432]|Aortic valve disease 1 [RCV002271092]|Familial thoracic aortic aneurysm and aortic dissection [RCV002345979]|NOTCH1-related condition [RCV003948127]|not provided [RCV000867071] |
Chr9:136506894 [GRCh38]
Chr9:139401346 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6666G>C (p.Pro2222=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586243] |
Chr9:136497073 [GRCh38]
Chr9:139391525 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4587-6C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002064907]|not provided [RCV003736935] |
Chr9:136505110 [GRCh38]
Chr9:139399562 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2325C>T (p.Tyr775=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000865910]|Aortic valve disease 1 [RCV002271090]|Familial thoracic aortic aneurysm and aortic dissection [RCV003307605]|not provided [RCV001567532] |
Chr9:136513420 [GRCh38]
Chr9:139407872 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.2217C>T (p.Cys739=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000884052] |
Chr9:136513528 [GRCh38]
Chr9:139407980 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1026C>T (p.Ala342=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001476332] |
Chr9:136518664 [GRCh38]
Chr9:139413116 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7189C>T (p.Leu2397=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001404521]|Aortic valve disease 1 [RCV002271086]|Familial thoracic aortic aneurysm and aortic dissection [RCV002372406]|not provided [RCV000863690] |
Chr9:136496550 [GRCh38]
Chr9:139391002 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.6414G>A (p.Pro2138=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001441251]|Familial thoracic aortic aneurysm and aortic dissection [RCV002363355] |
Chr9:136497325 [GRCh38]
Chr9:139391777 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6032T>C (p.Leu2011Pro) |
single nucleotide variant |
Esophageal atresia [RCV000984757] |
Chr9:136499162 [GRCh38]
Chr9:139393614 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2928C>T (p.Ser976=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002539003] |
Chr9:136509774 [GRCh38]
Chr9:139404226 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.438C>T (p.Ser146=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001487174] |
Chr9:136523154 [GRCh38]
Chr9:139417606 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4074C>T (p.Leu1358=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000869126]|Familial thoracic aortic aneurysm and aortic dissection [RCV002320001] |
Chr9:136505822 [GRCh38]
Chr9:139400274 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3095A>G (p.His1032Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001055529]|Aortic valve disease 1 [RCV002271176]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170151]|not provided [RCV002298863] |
Chr9:136508946 [GRCh38]
Chr9:139403398 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2577G>A (p.Thr859=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001069540] |
Chr9:136511162 [GRCh38]
Chr9:139405614 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3456C>A (p.Ser1152Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001042484] |
Chr9:136508009 [GRCh38]
Chr9:139402461 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1017_1018del (p.Ala340fs) |
microsatellite |
Adams-Oliver syndrome 5 [RCV001048164] |
Chr9:136518672..136518673 [GRCh38]
Chr9:139413124..139413125 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.1242T>G (p.Asp414Glu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001035888]|Aortic valve disease 1 [RCV002271167]|not provided [RCV001759726] |
Chr9:136518150 [GRCh38]
Chr9:139412602 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NC_000009.11:g.(?_138645763)_(140729425_?)del |
deletion |
Developmental and epileptic encephalopathy, 14 [RCV001362982]|Kleefstra syndrome 1 [RCV001031921] |
Chr9:138645763..140729425 [GRCh37]
Chr9:9q34.3 |
pathogenic|uncertain significance |
| NM_017617.5(NOTCH1):c.5350C>T (p.Arg1784Trp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001050854] |
Chr9:136502306 [GRCh38]
Chr9:139396758 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1067C>T (p.Ser356Phe) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001050861] |
Chr9:136518623 [GRCh38]
Chr9:139413075 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1945C>A (p.Pro649Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000988298]|Familial thoracic aortic aneurysm and aortic dissection [RCV002409318] |
Chr9:136515359 [GRCh38]
Chr9:139409811 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.1762A>C (p.Thr588Pro) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000988299] |
Chr9:136515624 [GRCh38]
Chr9:139410076 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1760T>C (p.Phe587Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000988300] |
Chr9:136515626 [GRCh38]
Chr9:139410078 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1756A>C (p.Thr586Pro) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000988301] |
Chr9:136515630 [GRCh38]
Chr9:139410082 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1042G>C (p.Ala348Pro) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000988303] |
Chr9:136518648 [GRCh38]
Chr9:139413100 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.931A>C (p.Thr311Pro) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000988304] |
Chr9:136518759 [GRCh38]
Chr9:139413211 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.580A>C (p.Thr194Pro) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000988305]|Aortic valve disease 1 [RCV002271146]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170710] |
Chr9:136523012 [GRCh38]
Chr9:139417464 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.1255+15_1255+16del |
deletion |
not provided [RCV000828391] |
Chr9:136518121..136518122 [GRCh38]
Chr9:139412573..139412574 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NC_000009.11:g.(?_138683633)_(139440248_?)del |
deletion |
Adams-Oliver syndrome 5 [RCV000793489] |
Chr9:138683633..139440248 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.4953G>T (p.Ser1651=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002533967]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770621] |
Chr9:136504738 [GRCh38]
Chr9:139399190 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.2725G>A (p.Asp909Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000808349] |
Chr9:136510668 [GRCh38]
Chr9:139405120 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4952C>T (p.Ser1651Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000801209]|Aortic valve disease 1 [RCV002271031]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770622] |
Chr9:136504739 [GRCh38]
Chr9:139399191 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2243C>A (p.Thr748Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002271035]|Aortic valve disease 1 [RCV002271034]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770642]|not provided [RCV001799707] |
Chr9:136513502 [GRCh38]
Chr9:139407954 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4057G>A (p.Gly1353Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002535793]|not provided [RCV000788866] |
Chr9:136505839 [GRCh38]
Chr9:139400291 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 |
copy number gain |
not provided [RCV000845900] |
Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.7209G>C (p.Gln2403His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001305494]|Aortic valve disease 1 [RCV002271021]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769577]|not provided [RCV001662808] |
Chr9:136496530 [GRCh38]
Chr9:139390982 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7075C>T (p.Leu2359=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001503611]|Aortic valve disease 1 [RCV002271022]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769579] |
Chr9:136496664 [GRCh38]
Chr9:139391116 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1446C>T (p.Tyr482=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001450137]|Aortic valve disease 1 [RCV002271026]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769607] |
Chr9:136517381 [GRCh38]
Chr9:139411833 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7642G>A (p.Ala2548Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001855726]|Aortic valve disease 1 [RCV002271029]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770360] |
Chr9:136496097 [GRCh38]
Chr9:139390549 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.7575G>C (p.Pro2525=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001416979]|Aortic valve disease 1 [RCV002271030]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770362]|not specified [RCV003489857] |
Chr9:136496164 [GRCh38]
Chr9:139390616 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4587-10dup |
duplication |
Adams-Oliver syndrome 5 [RCV000868979]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770626]|not provided [RCV001585696] |
Chr9:136505108..136505109 [GRCh38]
Chr9:139399560..139399561 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4031C>G (p.Thr1344Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002536610]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770631] |
Chr9:136505865 [GRCh38]
Chr9:139400317 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2297G>T (p.Gly766Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001855990]|Aortic valve disease 1 [RCV002271033]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770641] |
Chr9:136513448 [GRCh38]
Chr9:139407900 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.6291G>T (p.Pro2097=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000865843]|Familial thoracic aortic aneurysm and aortic dissection [RCV002352532] |
Chr9:136497448 [GRCh38]
Chr9:139391900 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1371C>T (p.Val457=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001494016] |
Chr9:136517822 [GRCh38]
Chr9:139412274 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6384G>A (p.Pro2128=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000945607]|Familial thoracic aortic aneurysm and aortic dissection [RCV002354840]|NOTCH1-related condition [RCV003942985] |
Chr9:136497355 [GRCh38]
Chr9:139391807 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5247C>T (p.Phe1749=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001414774]|Familial thoracic aortic aneurysm and aortic dissection [RCV003169136] |
Chr9:136502409 [GRCh38]
Chr9:139396861 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6129C>T (p.Ala2043=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002064593]|Familial thoracic aortic aneurysm and aortic dissection [RCV003169151] |
Chr9:136498950 [GRCh38]
Chr9:139393402 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3516G>A (p.Val1172=) |
single nucleotide variant |
not provided [RCV000933139] |
Chr9:136507432 [GRCh38]
Chr9:139401884 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6984G>A (p.Gly2328=) |
single nucleotide variant |
not provided [RCV000876965] |
Chr9:136496755 [GRCh38]
Chr9:139391207 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2541C>T (p.Ser847=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000863210]|Familial thoracic aortic aneurysm and aortic dissection [RCV002453941] |
Chr9:136511198 [GRCh38]
Chr9:139405650 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2439C>T (p.Tyr813=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001502827] |
Chr9:136513049 [GRCh38]
Chr9:139407501 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5661C>T (p.Ile1887=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001432240] |
Chr9:136500825 [GRCh38]
Chr9:139395277 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.201C>A (p.Pro67=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000878577] |
Chr9:136523919 [GRCh38]
Chr9:139418371 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6063C>T (p.Val2021=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002066481] |
Chr9:136499131 [GRCh38]
Chr9:139393583 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1903+7G>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001394808]|NOTCH1-related condition [RCV003938218] |
Chr9:136515476 [GRCh38]
Chr9:139409928 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4356C>T (p.Pro1452=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001418812] |
Chr9:136505540 [GRCh38]
Chr9:139399992 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6564C>A (p.Gly2188=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000878928]|Familial thoracic aortic aneurysm and aortic dissection [RCV002363319] |
Chr9:136497175 [GRCh38]
Chr9:139391627 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3210C>T (p.Asn1070=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000864238]|Familial thoracic aortic aneurysm and aortic dissection [RCV002319965] |
Chr9:136508347 [GRCh38]
Chr9:139402799 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1698C>T (p.Asp566=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003768674]|Familial thoracic aortic aneurysm and aortic dissection [RCV003485654] |
Chr9:136515688 [GRCh38]
Chr9:139410140 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4473G>A (p.Thr1491=) |
single nucleotide variant |
not provided [RCV000877207] |
Chr9:136505423 [GRCh38]
Chr9:139399875 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6759C>T (p.Pro2253=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002538994] |
Chr9:136496980 [GRCh38]
Chr9:139391432 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4713C>T (p.Ala1571=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001417421]|Aortic valve disease 1 [RCV002271099]|Familial thoracic aortic aneurysm and aortic dissection [RCV003169177]|not provided [RCV000872198] |
Chr9:136504978 [GRCh38]
Chr9:139399430 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.870G>A (p.Gln290=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586230]|Familial thoracic aortic aneurysm and aortic dissection [RCV003307614] |
Chr9:136518820 [GRCh38]
Chr9:139413272 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1710C>T (p.Cys570=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000873337] |
Chr9:136515676 [GRCh38]
Chr9:139410128 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5631C>T (p.Arg1877=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000863444]|Aortic valve disease 1 [RCV002271083]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798994]|not provided [RCV001551725] |
Chr9:136501755 [GRCh38]
Chr9:139396207 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1236C>T (p.Asp412=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000865171]|Familial thoracic aortic aneurysm and aortic dissection [RCV003169115] |
Chr9:136518156 [GRCh38]
Chr9:139412608 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.393C>T (p.Pro131=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001435758]|Familial thoracic aortic aneurysm and aortic dissection [RCV002372392] |
Chr9:136523727 [GRCh38]
Chr9:139418179 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.186G>A (p.Pro62=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001490469] |
Chr9:136523934 [GRCh38]
Chr9:139418386 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1794C>T (p.His598=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001398952] |
Chr9:136515592 [GRCh38]
Chr9:139410044 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4866C>T (p.Arg1622=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001394812]|Familial thoracic aortic aneurysm and aortic dissection [RCV002336764] |
Chr9:136504825 [GRCh38]
Chr9:139399277 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5019-9T>C |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000980502] |
Chr9:136503339 [GRCh38]
Chr9:139397791 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4393C>T (p.Leu1465=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001403676]|Familial thoracic aortic aneurysm and aortic dissection [RCV003169185]|not provided [RCV003424416] |
Chr9:136505503 [GRCh38]
Chr9:139399955 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2588-8C>T |
single nucleotide variant |
not provided [RCV000894931] |
Chr9:136510813 [GRCh38]
Chr9:139405265 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7278C>T (p.Ser2426=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001399769] |
Chr9:136496461 [GRCh38]
Chr9:139390913 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2014+10C>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001481926] |
Chr9:136515280 [GRCh38]
Chr9:139409732 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7584C>T (p.Asn2528=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001440718]|Familial thoracic aortic aneurysm and aortic dissection [RCV002390757] |
Chr9:136496155 [GRCh38]
Chr9:139390607 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5049G>A (p.Arg1683=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001429662] |
Chr9:136503300 [GRCh38]
Chr9:139397752 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2054A>C (p.Asn685Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000769598] |
Chr9:136514663 [GRCh38]
Chr9:139409115 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.334C>T (p.Arg112Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003768312]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769616] |
Chr9:136523786 [GRCh38]
Chr9:139418238 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4451A>G (p.Asn1484Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000805083]|Aortic valve disease 1 [RCV002271032]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770628]|not provided [RCV003148859] |
Chr9:136505445 [GRCh38]
Chr9:139399897 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.6057C>G (p.Ala2019=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000769590] |
Chr9:136499137 [GRCh38]
Chr9:139393589 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1045A>C (p.Thr349Pro) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000988302]|Aortic valve disease 1 [RCV002271027]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769610] |
Chr9:136518645 [GRCh38]
Chr9:139413097 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.210C>T (p.Asn70=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002061044]|Aortic valve disease 1 [RCV002271028]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769617] |
Chr9:136523910 [GRCh38]
Chr9:139418362 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1334C>T (p.Thr445Met) |
single nucleotide variant |
not provided [RCV002280308] |
Chr9:136517859 [GRCh38]
Chr9:139412311 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1712A>C (p.Asp571Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000769604] |
Chr9:136515674 [GRCh38]
Chr9:139410126 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7541C>T (p.Pro2514Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000769573] |
Chr9:136496198 [GRCh38]
Chr9:139390650 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6852C>T (p.Thr2284=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001397551]|Aortic valve disease 1 [RCV002271023]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769582] |
Chr9:136496887 [GRCh38]
Chr9:139391339 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1741A>G (p.Lys581Glu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001869066]|Aortic valve disease 1 [RCV002271025]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769602] |
Chr9:136515645 [GRCh38]
Chr9:139410097 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.1718A>C (p.Asp573Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000769603] |
Chr9:136515668 [GRCh38]
Chr9:139410120 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1510C>G (p.Arg504Gly) |
single nucleotide variant |
not provided [RCV003314824] |
Chr9:136517317 [GRCh38]
Chr9:139411769 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5422G>A (p.Asp1808Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001944962]|Aortic valve disease 1 [RCV002478160]|Familial thoracic aortic aneurysm and aortic dissection [RCV002343923] |
Chr9:136502051 [GRCh38]
Chr9:139396503 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5019-51C>T |
single nucleotide variant |
not provided [RCV000839149] |
Chr9:136503381 [GRCh38]
Chr9:139397833 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.382C>T (p.Arg128Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000804334]|Inborn genetic diseases [RCV002534779] |
Chr9:136523738 [GRCh38]
Chr9:139418190 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5344A>C (p.Lys1782Gln) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000805996] |
Chr9:136502312 [GRCh38]
Chr9:139396764 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2468-287G>A |
single nucleotide variant |
not provided [RCV000841117] |
Chr9:136511558 [GRCh38]
Chr9:139406010 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1670-10C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000916178]|Aortic valve disease 1 [RCV002271113]|NOTCH1-related condition [RCV003970429]|not provided [RCV001585867] |
Chr9:136515726 [GRCh38]
Chr9:139410178 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.6966A>G (p.Gln2322=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001472312]|Aortic valve disease 1 [RCV002271056]|not provided [RCV000827621] |
Chr9:136496773 [GRCh38]
Chr9:139391225 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2134A>G (p.Thr712Ala) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000793563] |
Chr9:136514583 [GRCh38]
Chr9:139409035 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1800C>T (p.Cys600=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000812945] |
Chr9:136515586 [GRCh38]
Chr9:139410038 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.7232CAC[7] (p.Pro2414_Pro2415dup) |
microsatellite |
Adams-Oliver syndrome 5 [RCV000815652] |
Chr9:136496492..136496493 [GRCh38]
Chr9:139390944..139390945 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1555+102C>T |
single nucleotide variant |
not provided [RCV000837413] |
Chr9:136517170 [GRCh38]
Chr9:139411622 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.1100-85T>C |
single nucleotide variant |
not provided [RCV000839327] |
Chr9:136518377 [GRCh38]
Chr9:139412829 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.404-117T>C |
single nucleotide variant |
not provided [RCV000839349] |
Chr9:136523305 [GRCh38]
Chr9:139417757 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3171+78dup |
duplication |
not provided [RCV000838154] |
Chr9:136508788..136508789 [GRCh38]
Chr9:139403240..139403241 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.6223G>A (p.Glu2075Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002067456]|Aortic valve disease 1 [RCV002271055]|Familial thoracic aortic aneurysm and aortic dissection [RCV002363182]|not provided [RCV000827503] |
Chr9:136497516 [GRCh38]
Chr9:139391968 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3172-122T>C |
single nucleotide variant |
not provided [RCV000837589] |
Chr9:136508507 [GRCh38]
Chr9:139402959 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.140+71G>A |
single nucleotide variant |
not provided [RCV000839501] |
Chr9:136543953 [GRCh38]
Chr9:139438405 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3171+153G>A |
single nucleotide variant |
not provided [RCV000839517] |
Chr9:136508717 [GRCh38]
Chr9:139403169 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2699G>A (p.Ser900Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000822842]|not provided [RCV003132108] |
Chr9:136510694 [GRCh38]
Chr9:139405146 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NC_000009.11:g.(?_138594085)_(139440258_?)dup |
duplication |
Developmental and epileptic encephalopathy, 14 [RCV000817958] |
Chr9:138594085..139440258 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4015-73G>A |
single nucleotide variant |
not provided [RCV000837718] |
Chr9:136505954 [GRCh38]
Chr9:139400406 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.3511-175G>A |
single nucleotide variant |
not provided [RCV000839595] |
Chr9:136507612 [GRCh38]
Chr9:139402064 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3684C>T (p.Pro1228=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001498758]|Aortic valve disease 1 [RCV002271072]|Familial thoracic aortic aneurysm and aortic dissection [RCV002453923]|NOTCH1-related condition [RCV003928315]|not provided [RCV000841698] |
Chr9:136506933 [GRCh38]
Chr9:139401385 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2326G>T (p.Val776Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000793806]|Aortic valve disease 1 [RCV002271040]|not provided [RCV001508283] |
Chr9:136513419 [GRCh38]
Chr9:139407871 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.5418G>A (p.Met1806Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000798000] |
Chr9:136502055 [GRCh38]
Chr9:139396507 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6739C>T (p.Leu2247=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002068613]|Aortic valve disease 1 [RCV002271074]|Familial thoracic aortic aneurysm and aortic dissection [RCV003150361]|not provided [RCV000842270] |
Chr9:136497000 [GRCh38]
Chr9:139391452 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6570G>A (p.Leu2190=) |
single nucleotide variant |
not provided [RCV000842282] |
Chr9:136497169 [GRCh38]
Chr9:139391621 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1269C>T (p.Cys423=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000814949] |
Chr9:136517924 [GRCh38]
Chr9:139412376 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2744C>T (p.Pro915Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000801431]|Familial thoracic aortic aneurysm and aortic dissection [RCV002440677] |
Chr9:136509958 [GRCh38]
Chr9:139404410 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1869C>T (p.Asn623=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002068627]|Aortic valve disease 1 [RCV002271079]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170167]|NOTCH1-related condition [RCV003965629]|not provided [RCV000842560] |
Chr9:136515517 [GRCh38]
Chr9:139409969 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.4015-10T>C |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001485090] |
Chr9:136505891 [GRCh38]
Chr9:139400343 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1441+131A>G |
single nucleotide variant |
not provided [RCV000838145] |
Chr9:136517621 [GRCh38]
Chr9:139412073 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.3644-152G>C |
single nucleotide variant |
not provided [RCV000838162] |
Chr9:136507125 [GRCh38]
Chr9:139401577 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.3644-79C>T |
single nucleotide variant |
not provided [RCV000838163] |
Chr9:136507052 [GRCh38]
Chr9:139401504 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.4014+75G>A |
single nucleotide variant |
not provided [RCV000838164] |
Chr9:136506452 [GRCh38]
Chr9:139400904 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.5804C>T (p.Ala1935Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000807847] |
Chr9:136500682 [GRCh38]
Chr9:139395134 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2740+295C>T |
single nucleotide variant |
not provided [RCV000832577] |
Chr9:136510358 [GRCh38]
Chr9:139404810 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4282C>G (p.Leu1428Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000814450] |
Chr9:136505614 [GRCh38]
Chr9:139400066 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5934+45G>A |
single nucleotide variant |
not provided [RCV000838220] |
Chr9:136500507 [GRCh38]
Chr9:139394959 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.6010C>T (p.Arg2004Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000807979]|NOTCH1-related condition [RCV003983209] |
Chr9:136499184 [GRCh38]
Chr9:139393636 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2611A>G (p.Asn871Asp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000798101]|Familial thoracic aortic aneurysm and aortic dissection [RCV002424834] |
Chr9:136510782 [GRCh38]
Chr9:139405234 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5987C>T (p.Thr1996Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000798259] |
Chr9:136499207 [GRCh38]
Chr9:139393659 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6532G>A (p.Ala2178Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000795696] |
Chr9:136497207 [GRCh38]
Chr9:139391659 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1801G>A (p.Glu601Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000816736]|Familial thoracic aortic aneurysm and aortic dissection [RCV002406862]|not provided [RCV001529461] |
Chr9:136515585 [GRCh38]
Chr9:139410037 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.866-257G>A |
single nucleotide variant |
not provided [RCV000840488] |
Chr9:136519081 [GRCh38]
Chr9:139413533 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.6180+284G>A |
single nucleotide variant |
not provided [RCV000840491] |
Chr9:136498615 [GRCh38]
Chr9:139393067 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.5499C>T (p.Asp1833=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000869919]|Familial thoracic aortic aneurysm and aortic dissection [RCV003380764] |
Chr9:136501887 [GRCh38]
Chr9:139396339 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6152G>C (p.Gly2051Ala) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000816806] |
Chr9:136498927 [GRCh38]
Chr9:139393379 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3632G>A (p.Arg1211Gln) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000815309]|Aortic valve disease 1 [RCV002501119]|Familial thoracic aortic aneurysm and aortic dissection [RCV002453853]|not provided [RCV002305542] |
Chr9:136507316 [GRCh38]
Chr9:139401768 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3887G>A (p.Arg1296His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000800498] |
Chr9:136506730 [GRCh38]
Chr9:139401182 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5423A>G (p.Asp1808Gly) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000802329] |
Chr9:136502050 [GRCh38]
Chr9:139396502 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.140+257A>T |
single nucleotide variant |
not provided [RCV000840812] |
Chr9:136543767 [GRCh38]
Chr9:139438219 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2467+28A>G |
single nucleotide variant |
not provided [RCV000840829] |
Chr9:136512993 [GRCh38]
Chr9:139407445 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.452A>G (p.Asn151Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000822286]|Aortic valve disease 1 [RCV002271051]|Familial thoracic aortic aneurysm and aortic dissection [RCV002336712]|not provided [RCV002223955] |
Chr9:136523140 [GRCh38]
Chr9:139417592 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1669+125_1669+132del |
deletion |
not provided [RCV000838152] |
Chr9:136515849..136515856 [GRCh38]
Chr9:139410301..139410308 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.550C>T (p.Gln184Ter) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000799106] |
Chr9:136523042 [GRCh38]
Chr9:139417494 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.7292G>A (p.Arg2431Gln) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000799117]|Familial thoracic aortic aneurysm and aortic dissection [RCV002386413] |
Chr9:136496447 [GRCh38]
Chr9:139390899 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3373G>A (p.Ala1125Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000802441]|Inborn genetic diseases [RCV002534706]|not provided [RCV003432769] |
Chr9:136508092 [GRCh38]
Chr9:139402544 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.7631A>G (p.Gln2544Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000820626]|Familial thoracic aortic aneurysm and aortic dissection [RCV002390690] |
Chr9:136496108 [GRCh38]
Chr9:139390560 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6180+126G>A |
single nucleotide variant |
not provided [RCV000839112] |
Chr9:136498773 [GRCh38]
Chr9:139393225 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1512C>A (p.Arg504=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586222]|not provided [RCV000840866] |
Chr9:136517315 [GRCh38]
Chr9:139411767 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6789G>C (p.Arg2263=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001453538]|Aortic valve disease 1 [RCV002271067]|not provided [RCV000840876] |
Chr9:136496950 [GRCh38]
Chr9:139391402 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.1669+16C>T |
single nucleotide variant |
not provided [RCV000840889] |
Chr9:136515965 [GRCh38]
Chr9:139410417 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NC_000009.11:g.(?_138683633)_(139440248_?)dup |
duplication |
Adams-Oliver syndrome 5 [RCV000811364] |
Chr9:138683633..139440248 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7417G>A (p.Val2473Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000802967]|NOTCH1-related condition [RCV003947991] |
Chr9:136496322 [GRCh38]
Chr9:139390774 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1100-140G>A |
single nucleotide variant |
not provided [RCV000838144] |
Chr9:136518432 [GRCh38]
Chr9:139412884 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.1556-43T>C |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001785736]|Aortic valve disease 1 [RCV001785735]|not provided [RCV000838146] |
Chr9:136516137 [GRCh38]
Chr9:139410589 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.1442-43C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001785738]|Aortic valve disease 1 [RCV001785737]|not provided [RCV000838147] |
Chr9:136517428 [GRCh38]
Chr9:139411880 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.2207+70G>A |
single nucleotide variant |
not provided [RCV000838148] |
Chr9:136514440 [GRCh38]
Chr9:139408892 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.1555+245C>T |
single nucleotide variant |
not provided [RCV000838149] |
Chr9:136517027 [GRCh38]
Chr9:139411479 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.1556-133A>G |
single nucleotide variant |
not provided [RCV000838151] |
Chr9:136516227 [GRCh38]
Chr9:139410679 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.2588-104T>C |
single nucleotide variant |
not provided [RCV000838153] |
Chr9:136510909 [GRCh38]
Chr9:139405361 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.3171+220A>G |
single nucleotide variant |
not provided [RCV000838155] |
Chr9:136508650 [GRCh38]
Chr9:139403102 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.3172-71A>G |
single nucleotide variant |
not provided [RCV000838156] |
Chr9:136508456 [GRCh38]
Chr9:139402908 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.6082+5G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000799475] |
Chr9:136499107 [GRCh38]
Chr9:139393559 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1731C>T (p.Tyr577=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002271060]|Aortic valve disease 1 [RCV002271059]|not provided [RCV000828229] |
Chr9:136515655 [GRCh38]
Chr9:139410107 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3510+148G>A |
single nucleotide variant |
not provided [RCV000838329] |
Chr9:136507807 [GRCh38]
Chr9:139402259 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3553G>A (p.Asp1185Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000799752]|Aortic valve disease 1 [RCV002271041]|Familial thoracic aortic aneurysm and aortic dissection [RCV002458453]|not provided [RCV001555791] |
Chr9:136507395 [GRCh38]
Chr9:139401847 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.7653G>A (p.Pro2551=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000806268]|Familial thoracic aortic aneurysm and aortic dissection [RCV002388518] |
Chr9:136496086 [GRCh38]
Chr9:139390538 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4654G>A (p.Ala1552Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000816395] |
Chr9:136505037 [GRCh38]
Chr9:139399489 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4655C>T (p.Ala1552Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000822729]|Aortic valve disease 1 [RCV002271052]|not specified [RCV003323736] |
Chr9:136505036 [GRCh38]
Chr9:139399488 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.5935-148G>A |
single nucleotide variant |
not provided [RCV000838745] |
Chr9:136499407 [GRCh38]
Chr9:139393859 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.1369G>A (p.Val457Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000820315] |
Chr9:136517824 [GRCh38]
Chr9:139412276 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.7298T>C (p.Phe2433Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000822987]|Inborn genetic diseases [RCV002535968] |
Chr9:136496441 [GRCh38]
Chr9:139390893 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NOTCH1, PRO1797HIS |
single nucleotide variant |
Aortic valve disease 1 [RCV000787044] |
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.7432G>A (p.Ala2478Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000813239]|Familial thoracic aortic aneurysm and aortic dissection [RCV002381814] |
Chr9:136496307 [GRCh38]
Chr9:139390759 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.516C>T (p.Gly172=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002536139]|Familial thoracic aortic aneurysm and aortic dissection [RCV003169074]|not provided [RCV000841686] |
Chr9:136523076 [GRCh38]
Chr9:139417528 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3172-5C>T |
single nucleotide variant |
not provided [RCV000788244] |
Chr9:136508390 [GRCh38]
Chr9:139402842 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.3970G>T (p.Val1324Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001241066]|Aortic valve disease 1 [RCV002271036]|Aortic valve disease 1 [RCV002477793]|Familial thoracic aortic aneurysm and aortic dissection [RCV003307420]|not provided [RCV000788284] |
Chr9:136506571 [GRCh38]
Chr9:139401023 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.2363G>T (p.Cys788Phe) |
single nucleotide variant |
not provided [RCV000788360] |
Chr9:136513125 [GRCh38]
Chr9:139407577 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1539G>C (p.Gln513His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000813652] |
Chr9:136517288 [GRCh38]
Chr9:139411740 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2728G>A (p.Asp910Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000807630]|Aortic valve disease 1 [RCV002271046]|not provided [RCV001731935] |
Chr9:136510665 [GRCh38]
Chr9:139405117 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.7357G>A (p.Val2453Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000804415] |
Chr9:136496382 [GRCh38]
Chr9:139390834 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2772C>T (p.Asp924=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001494694]|Aortic valve disease 1 [RCV002271073]|Familial thoracic aortic aneurysm and aortic dissection [RCV002434044]|not provided [RCV000842172] |
Chr9:136509930 [GRCh38]
Chr9:139404382 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6342C>G (p.Asp2114Glu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000823657] |
Chr9:136497397 [GRCh38]
Chr9:139391849 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5167+189C>A |
single nucleotide variant |
not provided [RCV000839567] |
Chr9:136502993 [GRCh38]
Chr9:139397445 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.5385-70C>T |
single nucleotide variant |
not provided [RCV000839568] |
Chr9:136502158 [GRCh38]
Chr9:139396610 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.5935-209G>A |
single nucleotide variant |
not provided [RCV000839569] |
Chr9:136499468 [GRCh38]
Chr9:139393920 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.2588-93C>T |
single nucleotide variant |
not provided [RCV000839572] |
Chr9:136510898 [GRCh38]
Chr9:139405350 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2740+128G>A |
single nucleotide variant |
not provided [RCV000839573] |
Chr9:136510525 [GRCh38]
Chr9:139404977 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2740+188G>A |
single nucleotide variant |
not provided [RCV000839574] |
Chr9:136510465 [GRCh38]
Chr9:139404917 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3365G>A (p.Cys1122Tyr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000821445] |
Chr9:136508100 [GRCh38]
Chr9:139402552 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.152C>A (p.Ala51Asp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000798007] |
Chr9:136523968 [GRCh38]
Chr9:139418420 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4492A>G (p.Lys1498Glu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000805121]|Aortic valve disease 1 [RCV002271044]|Familial thoracic aortic aneurysm and aortic dissection [RCV001798981]|not provided [RCV001580068] |
Chr9:136505404 [GRCh38]
Chr9:139399856 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.3171+8C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002067519]|Aortic valve disease 1 [RCV002271066]|not provided [RCV000840190] |
Chr9:136508862 [GRCh38]
Chr9:139403314 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.1041C>T (p.Gly347=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001208776]|not provided [RCV000840311] |
Chr9:136518649 [GRCh38]
Chr9:139413101 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2467+21G>A |
single nucleotide variant |
not provided [RCV000837464] |
Chr9:136513000 [GRCh38]
Chr9:139407452 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.2969+308C>T |
single nucleotide variant |
not provided [RCV000840766] |
Chr9:136509425 [GRCh38]
Chr9:139403877 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5019-286G>A |
single nucleotide variant |
not provided [RCV000840768] |
Chr9:136503616 [GRCh38]
Chr9:139398068 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5273G>A (p.Arg1758His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000805845]|Aortic valve disease 1 [RCV002271045]|Familial thoracic aortic aneurysm and aortic dissection [RCV001171095]|NOTCH1-related condition [RCV003955515]|not provided [RCV002464326] |
Chr9:136502383 [GRCh38]
Chr9:139396835 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.4507G>C (p.Gly1503Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000815294] |
Chr9:136505389 [GRCh38]
Chr9:139399841 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5168-7C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002067454]|Aortic valve disease 1 [RCV002271054]|not provided [RCV000827447] |
Chr9:136502495 [GRCh38]
Chr9:139396947 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2970-31A>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001785734]|Aortic valve disease 1 [RCV001785733]|not provided [RCV000837659] |
Chr9:136509102 [GRCh38]
Chr9:139403554 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.2207+206T>C |
single nucleotide variant |
not provided [RCV000837709] |
Chr9:136514304 [GRCh38]
Chr9:139408756 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.141-230T>C |
single nucleotide variant |
not provided [RCV000837715] |
Chr9:136524209 [GRCh38]
Chr9:139418661 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.2587+103T>C |
single nucleotide variant |
not provided [RCV000837716] |
Chr9:136511049 [GRCh38]
Chr9:139405501 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.3171+54A>G |
single nucleotide variant |
not provided [RCV000837717] |
Chr9:136508816 [GRCh38]
Chr9:139403268 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.7172A>T (p.Gln2391Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001066348] |
Chr9:136496567 [GRCh38]
Chr9:139391019 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4417G>A (p.Gly1473Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000811787] |
Chr9:136505479 [GRCh38]
Chr9:139399931 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5913C>T (p.Ala1971=) |
single nucleotide variant |
not provided [RCV000828383] |
Chr9:136500573 [GRCh38]
Chr9:139395025 [GRCh37]
Chr9:9q34.3 |
likely benign |
| GRCh37/hg19 9q34.3(chr9:139356584-139435463)x3 |
copy number gain |
not provided [RCV000847061] |
Chr9:139356584..139435463 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3985G>A (p.Ala1329Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001068357] |
Chr9:136506556 [GRCh38]
Chr9:139401008 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2868C>A (p.Asn956Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000796260] |
Chr9:136509834 [GRCh38]
Chr9:139404286 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5384+6C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000810972] |
Chr9:136502266 [GRCh38]
Chr9:139396718 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4064T>C (p.Leu1355Pro) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000793424] |
Chr9:136505832 [GRCh38]
Chr9:139400284 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.-6G>T |
single nucleotide variant |
not provided [RCV000828219] |
Chr9:136545792 [GRCh38]
Chr9:139440244 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.879C>T (p.Thr293=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000876547]|Familial thoracic aortic aneurysm and aortic dissection [RCV002444962]|not provided [RCV001724183] |
Chr9:136518811 [GRCh38]
Chr9:139413263 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1407C>T (p.Asp469=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002067482]|Aortic valve disease 1 [RCV002271061]|not provided [RCV000828379] |
Chr9:136517786 [GRCh38]
Chr9:139412238 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.244G>T (p.Val82Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000818288] |
Chr9:136523876 [GRCh38]
Chr9:139418328 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1392C>T (p.Asp464=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000894966] |
Chr9:136517801 [GRCh38]
Chr9:139412253 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4127del (p.Gly1376fs) |
deletion |
Adams-Oliver syndrome 5 [RCV000796002] |
Chr9:136505769 [GRCh38]
Chr9:139400221 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.6937C>T (p.Arg2313Trp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000818382] |
Chr9:136496802 [GRCh38]
Chr9:139391254 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3372C>T (p.Asp1124=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002538940] |
Chr9:136508093 [GRCh38]
Chr9:139402545 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.866-263G>A |
single nucleotide variant |
not provided [RCV000840487] |
Chr9:136519087 [GRCh38]
Chr9:139413539 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.1555+272C>T |
single nucleotide variant |
not provided [RCV000840498] |
Chr9:136517000 [GRCh38]
Chr9:139411452 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.2467+34C>G |
single nucleotide variant |
not provided [RCV000828770] |
Chr9:136512987 [GRCh38]
Chr9:139407439 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.4141C>T (p.Pro1381Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000810654] |
Chr9:136505755 [GRCh38]
Chr9:139400207 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2452C>T (p.Leu818=) |
single nucleotide variant |
not provided [RCV000828878] |
Chr9:136513036 [GRCh38]
Chr9:139407488 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.674C>G (p.Ser225Trp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000815491]|Aortic valve disease 1 [RCV002271047]|Familial thoracic aortic aneurysm and aortic dissection [RCV002372300]|not provided [RCV001545874] |
Chr9:136522918 [GRCh38]
Chr9:139417370 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.865+251G>A |
single nucleotide variant |
not provided [RCV000840659] |
Chr9:136519192 [GRCh38]
Chr9:139413644 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.743-6C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002536123]|not provided [RCV000840663] |
Chr9:136519571 [GRCh38]
Chr9:139414023 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.411G>T (p.Ser137=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003768590]|not provided [RCV000840698] |
Chr9:136523181 [GRCh38]
Chr9:139417633 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5639-174G>A |
single nucleotide variant |
not provided [RCV000837474] |
Chr9:136501021 [GRCh38]
Chr9:139395473 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.6449A>G (p.Lys2150Arg) |
single nucleotide variant |
not provided [RCV000788243] |
Chr9:136497290 [GRCh38]
Chr9:139391742 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6310C>T (p.Arg2104Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000819162] |
Chr9:136497429 [GRCh38]
Chr9:139391881 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6180+176T>C |
single nucleotide variant |
not provided [RCV000837691] |
Chr9:136498723 [GRCh38]
Chr9:139393175 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.1220C>T (p.Pro407Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001856231]|Aortic valve disease 1 [RCV002271039]|Cholesteatoma of middle ear [RCV003159074]|Familial thoracic aortic aneurysm and aortic dissection [RCV002352303]|not provided [RCV000788985] |
Chr9:136518172 [GRCh38]
Chr9:139412624 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance|other |
| NM_017617.5(NOTCH1):c.376A>G (p.Lys126Glu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000810958]|Familial thoracic aortic aneurysm and aortic dissection [RCV003307505] |
Chr9:136523744 [GRCh38]
Chr9:139418196 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1864G>A (p.Asp622Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000815975]|Familial thoracic aortic aneurysm and aortic dissection [RCV002406855] |
Chr9:136515522 [GRCh38]
Chr9:139409974 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3852C>G (p.Cys1284Trp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002536908]|not provided [RCV000788673] |
Chr9:136506765 [GRCh38]
Chr9:139401217 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5819G>A (p.Arg1940His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001345011]|Aortic valve disease 1 [RCV002271038]|not provided [RCV000788742] |
Chr9:136500667 [GRCh38]
Chr9:139395119 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.-152T>C |
single nucleotide variant |
not provided [RCV000838142] |
Chr9:136545938 [GRCh38]
Chr9:139440390 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.6180+189C>T |
single nucleotide variant |
not provided [RCV000838157] |
Chr9:136498710 [GRCh38]
Chr9:139393162 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.3325+21A>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001785740]|Aortic valve disease 1 [RCV001785739]|not provided [RCV000838158]|not specified [RCV001725200] |
Chr9:136508211 [GRCh38]
Chr9:139402663 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.5473-43T>C |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001785742]|Aortic valve disease 1 [RCV001785741]|not provided [RCV000838168] |
Chr9:136501956 [GRCh38]
Chr9:139396408 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.1555+60G>T |
single nucleotide variant |
not provided [RCV000838188] |
Chr9:136517212 [GRCh38]
Chr9:139411664 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3768G>A (p.Pro1256=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002064791]|Familial thoracic aortic aneurysm and aortic dissection [RCV003344113] |
Chr9:136506849 [GRCh38]
Chr9:139401301 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1792C>T (p.His598Tyr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000811265] |
Chr9:136515594 [GRCh38]
Chr9:139410046 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NC_000009.12:g.136502974G>A |
single nucleotide variant |
not provided [RCV000838330] |
Chr9:139397426 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.1100-141C>G |
single nucleotide variant |
not provided [RCV000838739] |
Chr9:136518433 [GRCh38]
Chr9:139412885 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6607C>T (p.Leu2203=) |
single nucleotide variant |
not provided [RCV000841969] |
Chr9:136497132 [GRCh38]
Chr9:139391584 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3631C>T (p.Arg1211Trp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001219827]|Aortic valve disease 1 [RCV000845088] |
Chr9:136507317 [GRCh38]
Chr9:139401769 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance|not provided |
| NM_017617.5(NOTCH1):c.1442-3C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000795268] |
Chr9:136517388 [GRCh38]
Chr9:139411840 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2468-197C>T |
single nucleotide variant |
not provided [RCV000839088] |
Chr9:136511468 [GRCh38]
Chr9:139405920 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2740+187C>T |
single nucleotide variant |
not provided [RCV000839089] |
Chr9:136510466 [GRCh38]
Chr9:139404918 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3245G>A (p.Arg1082His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000817527]|not provided [RCV003156296] |
Chr9:136508312 [GRCh38]
Chr9:139402764 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.865+240A>G |
single nucleotide variant |
not provided [RCV000839322] |
Chr9:136519203 [GRCh38]
Chr9:139413655 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1956G>T (p.Ser652=) |
single nucleotide variant |
not provided [RCV000830244] |
Chr9:136515348 [GRCh38]
Chr9:139409800 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2467+177G>A |
single nucleotide variant |
not provided [RCV000839571] |
Chr9:136512844 [GRCh38]
Chr9:139407296 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2969+182C>T |
single nucleotide variant |
not provided [RCV000839594] |
Chr9:136509551 [GRCh38]
Chr9:139404003 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2446A>G (p.Asn816Asp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001869206]|Aortic valve disease 1 [RCV002271037]|Inborn genetic diseases [RCV002536906]|not provided [RCV000788443] |
Chr9:136513042 [GRCh38]
Chr9:139407494 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 |
copy number gain |
not provided [RCV000847808] |
Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3 |
pathogenic |
| GRCh37/hg19 9q34.3(chr9:139356957-139435463)x3 |
copy number gain |
not provided [RCV000847870] |
Chr9:139356957..139435463 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3326-4G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748302]|not provided [RCV000999291] |
Chr9:136508143 [GRCh38]
Chr9:139402595 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1896_1897delinsTG (p.Thr633Ala) |
indel |
Adams-Oliver syndrome 5 [RCV001043407] |
Chr9:136515489..136515490 [GRCh38]
Chr9:139409941..139409942 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3496G>A (p.Gly1166Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001209861]|Familial thoracic aortic aneurysm and aortic dissection [RCV002451453] |
Chr9:136507969 [GRCh38]
Chr9:139402421 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2448dup (p.Cys817fs) |
duplication |
Adams-Oliver syndrome 5 [RCV001224858]|not provided [RCV001009237] |
Chr9:136513039..136513040 [GRCh38]
Chr9:139407491..139407492 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.4717A>G (p.Thr1573Ala) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001206747]|Aortic valve disease 1 [RCV002271193]|not provided [RCV001760172] |
Chr9:136504974 [GRCh38]
Chr9:139399426 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.2467+7G>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001216648] |
Chr9:136513014 [GRCh38]
Chr9:139407466 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2963C>T (p.Thr988Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001213252]|Aortic valve disease 1 [RCV002271195]|not provided [RCV001760187] |
Chr9:136509739 [GRCh38]
Chr9:139404191 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6383C>T (p.Pro2128Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001236732]|Aortic valve disease 1 [RCV002271198]|Familial thoracic aortic aneurysm and aortic dissection [RCV002357013]|not provided [RCV001587265] |
Chr9:136497356 [GRCh38]
Chr9:139391808 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.5296C>A (p.Gln1766Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001242923] |
Chr9:136502360 [GRCh38]
Chr9:139396812 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3363C>G (p.Leu1121=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001208011] |
Chr9:136508102 [GRCh38]
Chr9:139402554 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1135A>C (p.Asn379His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001214021] |
Chr9:136518257 [GRCh38]
Chr9:139412709 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5430G>C (p.Gln1810His) |
single nucleotide variant |
Aortic valve disease 1 [RCV001195758] |
Chr9:136502043 [GRCh38]
Chr9:139396495 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.620G>A (p.Arg207His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001224948]|Aortic valve disease 1 [RCV002271197]|not provided [RCV001587253] |
Chr9:136522972 [GRCh38]
Chr9:139417424 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.7072G>A (p.Ala2358Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001240393] |
Chr9:136496667 [GRCh38]
Chr9:139391119 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1081T>C (p.Cys361Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001201640] |
Chr9:136518609 [GRCh38]
Chr9:139413061 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2620G>A (p.Val874Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001230592]|Familial thoracic aortic aneurysm and aortic dissection [RCV002436893]|NOTCH1-related condition [RCV003945934] |
Chr9:136510773 [GRCh38]
Chr9:139405225 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5181G>T (p.Glu1727Asp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001233882] |
Chr9:136502475 [GRCh38]
Chr9:139396927 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5605G>A (p.Ala1869Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001204593] |
Chr9:136501781 [GRCh38]
Chr9:139396233 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.506G>A (p.Ser169Asn) |
single nucleotide variant |
not provided [RCV003318262] |
Chr9:136523086 [GRCh38]
Chr9:139417538 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7279G>C (p.Gly2427Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748485]|not provided [RCV003312749] |
Chr9:136496460 [GRCh38]
Chr9:139390912 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1108T>C (p.Cys370Arg) |
single nucleotide variant |
not provided [RCV003312750] |
Chr9:136518284 [GRCh38]
Chr9:139412736 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.125G>T (p.Gly42Val) |
single nucleotide variant |
not provided [RCV003313560] |
Chr9:136544039 [GRCh38]
Chr9:139438491 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5362G>A (p.Gly1788Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001243985] |
Chr9:136502294 [GRCh38]
Chr9:139396746 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2293G>A (p.Gly765Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001233101] |
Chr9:136513452 [GRCh38]
Chr9:139407904 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1756A>G (p.Thr586Ala) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001222339] |
Chr9:136515630 [GRCh38]
Chr9:139410082 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6351C>A (p.Asn2117Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001223766] |
Chr9:136497388 [GRCh38]
Chr9:139391840 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3244C>T (p.Arg1082Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001065418]|Familial thoracic aortic aneurysm and aortic dissection [RCV003283949] |
Chr9:136508313 [GRCh38]
Chr9:139402765 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1120G>A (p.Asp374Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001226717]|not provided [RCV003132299] |
Chr9:136518272 [GRCh38]
Chr9:139412724 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6106G>A (p.Ala2036Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001227002] |
Chr9:136498973 [GRCh38]
Chr9:139393425 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3076G>A (p.Asp1026Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001065470] |
Chr9:136508965 [GRCh38]
Chr9:139403417 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2950A>G (p.Thr984Ala) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001235252]|Aortic valve disease 1 [RCV002504323] |
Chr9:136509752 [GRCh38]
Chr9:139404204 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4583G>A (p.Cys1528Tyr) |
single nucleotide variant |
not provided [RCV003234345] |
Chr9:136505313 [GRCh38]
Chr9:139399765 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NC_000009.11:g.(?_139089171)_(141016451_?)del |
deletion |
Rafiq syndrome [RCV003122293]|not provided [RCV003105304] |
Chr9:139089171..141016451 [GRCh37]
Chr9:9q34.3 |
pathogenic|no classifications from unflagged records |
| NM_017617.5(NOTCH1):c.5934+146G>A |
single nucleotide variant |
not provided [RCV001576367] |
Chr9:136500406 [GRCh38]
Chr9:139394858 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2740+142del |
deletion |
not provided [RCV001643862] |
Chr9:136510511 [GRCh38]
Chr9:139404963 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.6181-274dup |
duplication |
not provided [RCV001545400] |
Chr9:136497825..136497826 [GRCh38]
Chr9:139392277..139392278 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.742+185C>T |
single nucleotide variant |
not provided [RCV001569292] |
Chr9:136522665 [GRCh38]
Chr9:139417117 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2740+73G>T |
single nucleotide variant |
not provided [RCV001566912] |
Chr9:136510580 [GRCh38]
Chr9:139405032 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5018+80C>T |
single nucleotide variant |
not provided [RCV001567672] |
Chr9:136504593 [GRCh38]
Chr9:139399045 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1442-35G>A |
single nucleotide variant |
not provided [RCV001560057] |
Chr9:136517420 [GRCh38]
Chr9:139411872 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1846G>A (p.Gly616Ser) |
single nucleotide variant |
not provided [RCV001588579] |
Chr9:136515540 [GRCh38]
Chr9:139409992 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2740+210G>A |
single nucleotide variant |
not provided [RCV001657347] |
Chr9:136510443 [GRCh38]
Chr9:139404895 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.3325+26G>A |
single nucleotide variant |
not provided [RCV001638664] |
Chr9:136508206 [GRCh38]
Chr9:139402658 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.403+243C>G |
single nucleotide variant |
not provided [RCV001568603] |
Chr9:136523474 [GRCh38]
Chr9:139417926 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2970-247C>T |
single nucleotide variant |
not provided [RCV001537415] |
Chr9:136509318 [GRCh38]
Chr9:139403770 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.52G>A (p.Ala18Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002072991]|Aortic valve disease 1 [RCV002271280]|Myeloproliferative neoplasm, unclassifiable [RCV002284222]|NOTCH1-related condition [RCV003948649]|not provided [RCV001648232] |
Chr9:136545735 [GRCh38]
Chr9:139440187 [GRCh37]
Chr9:9q34.3 |
pathogenic|benign|likely benign |
| NM_017617.5(NOTCH1):c.2093A>G (p.Asn698Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002421247]|not provided [RCV001723261] |
Chr9:136514624 [GRCh38]
Chr9:139409076 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.403+125T>C |
single nucleotide variant |
not provided [RCV001556071] |
Chr9:136523592 [GRCh38]
Chr9:139418044 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3644-47G>T |
single nucleotide variant |
not provided [RCV001589587] |
Chr9:136507020 [GRCh38]
Chr9:139401472 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2467+49A>G |
single nucleotide variant |
not provided [RCV001671562] |
Chr9:136512972 [GRCh38]
Chr9:139407424 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.1245G>A (p.Glu415=) |
single nucleotide variant |
not provided [RCV001579497] |
Chr9:136518147 [GRCh38]
Chr9:139412599 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2353+93A>G |
single nucleotide variant |
not provided [RCV001561774] |
Chr9:136513299 [GRCh38]
Chr9:139407751 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2587+129G>A |
single nucleotide variant |
not provided [RCV001663108] |
Chr9:136511023 [GRCh38]
Chr9:139405475 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.2353+91C>G |
single nucleotide variant |
not provided [RCV001550981] |
Chr9:136513301 [GRCh38]
Chr9:139407753 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3483G>A (p.Thr1161=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001866191]|Familial thoracic aortic aneurysm and aortic dissection [RCV003382629]|not provided [RCV001593617] |
Chr9:136507982 [GRCh38]
Chr9:139402434 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5638+292_5638+293insC |
insertion |
not provided [RCV001557070] |
Chr9:136501455..136501456 [GRCh38]
Chr9:139395907..139395908 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1442-50T>G |
single nucleotide variant |
not provided [RCV001590031] |
Chr9:136517435 [GRCh38]
Chr9:139411887 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5638+287dup |
duplication |
not provided [RCV001670460] |
Chr9:136501450..136501451 [GRCh38]
Chr9:139395902..139395903 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.-215_-203del |
deletion |
not provided [RCV001617268] |
Chr9:136545989..136546001 [GRCh38]
Chr9:139440441..139440453 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.*126G>A |
single nucleotide variant |
not provided [RCV001673459] |
Chr9:136495945 [GRCh38]
Chr9:139390397 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.5638+245T>C |
single nucleotide variant |
not provided [RCV001574169] |
Chr9:136501503 [GRCh38]
Chr9:139395955 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2226C>T (p.Asp742=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002569009]|Familial thoracic aortic aneurysm and aortic dissection [RCV002424981]|NOTCH1-related condition [RCV003900798]|not provided [RCV001559705] |
Chr9:136513519 [GRCh38]
Chr9:139407971 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.1810del (p.Ile604fs) |
deletion |
Heart, malformation of [RCV000853314] |
Chr9:136515576 [GRCh38]
Chr9:139410028 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.3231C>T (p.Thr1077=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001410422] |
Chr9:136508326 [GRCh38]
Chr9:139402778 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5460C>T (p.Thr1820=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001397445]|Familial thoracic aortic aneurysm and aortic dissection [RCV002345991] |
Chr9:136502013 [GRCh38]
Chr9:139396465 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.216G>A (p.Gly72=) |
single nucleotide variant |
not provided [RCV000927295] |
Chr9:136523904 [GRCh38]
Chr9:139418356 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2907C>T (p.Cys969=) |
single nucleotide variant |
not provided [RCV000929670] |
Chr9:136509795 [GRCh38]
Chr9:139404247 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4173C>T (p.Cys1391=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001443580] |
Chr9:136505723 [GRCh38]
Chr9:139400175 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6759C>G (p.Pro2253=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001463596] |
Chr9:136496980 [GRCh38]
Chr9:139391432 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1188C>G (p.Ala396=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000936578]|Familial thoracic aortic aneurysm and aortic dissection [RCV003169395] |
Chr9:136518204 [GRCh38]
Chr9:139412656 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7458G>A (p.Ser2486=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001437232]|Familial thoracic aortic aneurysm and aortic dissection [RCV002382085]|not provided [RCV003424471] |
Chr9:136496281 [GRCh38]
Chr9:139390733 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6948C>T (p.Ser2316=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001465003]|Familial thoracic aortic aneurysm and aortic dissection [RCV002363504] |
Chr9:136496791 [GRCh38]
Chr9:139391243 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.996C>T (p.Cys332=) |
single nucleotide variant |
not provided [RCV000888808] |
Chr9:136518694 [GRCh38]
Chr9:139413146 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5187C>T (p.Pro1729=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748290] |
Chr9:136502469 [GRCh38]
Chr9:139396921 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2433C>T (p.Ala811=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000866649]|Aortic valve disease 1 [RCV002271091]|Familial thoracic aortic aneurysm and aortic dissection [RCV002453969]|NOTCH1-related condition [RCV003908225]|not provided [RCV001547628] |
Chr9:136513055 [GRCh38]
Chr9:139407507 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4911C>T (p.Gly1637=) |
single nucleotide variant |
not provided [RCV000883778]|not specified [RCV003330987] |
Chr9:136504780 [GRCh38]
Chr9:139399232 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5301C>T (p.Leu1767=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000862867]|Familial thoracic aortic aneurysm and aortic dissection [RCV003344092] |
Chr9:136502355 [GRCh38]
Chr9:139396807 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4335C>T (p.Ile1445=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000862868]|Aortic valve disease 1 [RCV002271082]|Familial thoracic aortic aneurysm and aortic dissection [RCV003344093]|not provided [RCV001593074] |
Chr9:136505561 [GRCh38]
Chr9:139400013 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1044C>T (p.Ala348=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000872277] |
Chr9:136518646 [GRCh38]
Chr9:139413098 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.750C>T (p.Thr250=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000862916]|Familial thoracic aortic aneurysm and aortic dissection [RCV002390749]|not specified [RCV003323746] |
Chr9:136519558 [GRCh38]
Chr9:139414010 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.4761C>T (p.Asn1587=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000952403]|Familial thoracic aortic aneurysm and aortic dissection [RCV002337004] |
Chr9:136504930 [GRCh38]
Chr9:139399382 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1959C>A (p.Gly653=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001430557] |
Chr9:136515345 [GRCh38]
Chr9:139409797 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.569_586del (p.Arg190_Cys195del) |
deletion |
not provided [RCV001760840] |
Chr9:136523006..136523023 [GRCh38]
Chr9:139417458..139417475 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6476G>T (p.Arg2159Leu) |
single nucleotide variant |
not provided [RCV001760855] |
Chr9:136497263 [GRCh38]
Chr9:139391715 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.613G>A (p.Val205Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002544029]|Familial thoracic aortic aneurysm and aortic dissection [RCV002359236]|not provided [RCV001760858] |
Chr9:136522979 [GRCh38]
Chr9:139417431 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3325+9C>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001450274] |
Chr9:136508223 [GRCh38]
Chr9:139402675 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6724C>T (p.Leu2242=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002539305] |
Chr9:136497015 [GRCh38]
Chr9:139391467 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3513C>T (p.Cys1171=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001463524]|Familial thoracic aortic aneurysm and aortic dissection [RCV002454070]|not specified [RCV003489960] |
Chr9:136507435 [GRCh38]
Chr9:139401887 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.7641C>T (p.Ile2547=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000879680]|Familial thoracic aortic aneurysm and aortic dissection [RCV002390857] |
Chr9:136496098 [GRCh38]
Chr9:139390550 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2741-9C>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001464959] |
Chr9:136509970 [GRCh38]
Chr9:139404422 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3669C>T (p.Asp1223=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001396638]|Familial thoracic aortic aneurysm and aortic dissection [RCV003169487] |
Chr9:136506948 [GRCh38]
Chr9:139401400 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7071C>T (p.Ser2357=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000928732]|Familial thoracic aortic aneurysm and aortic dissection [RCV002363392]|NOTCH1-related condition [RCV003895646] |
Chr9:136496668 [GRCh38]
Chr9:139391120 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1308C>T (p.Phe436=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002066337]|Familial thoracic aortic aneurysm and aortic dissection [RCV003169471] |
Chr9:136517885 [GRCh38]
Chr9:139412337 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4458C>G (p.Pro1486=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001418268]|Familial thoracic aortic aneurysm and aortic dissection [RCV002332761] |
Chr9:136505438 [GRCh38]
Chr9:139399890 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6090C>T (p.Ser2030=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV000861873]|Familial thoracic aortic aneurysm and aortic dissection [RCV002352506]|NOTCH1-related condition [RCV003918330]|not provided [RCV003432792] |
Chr9:136498989 [GRCh38]
Chr9:139393441 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1442-7C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002068661] |
Chr9:136517392 [GRCh38]
Chr9:139411844 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3221G>A (p.Cys1074Tyr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001236590] |
Chr9:136508336 [GRCh38]
Chr9:139402788 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.559G>A (p.Gly187Arg) |
single nucleotide variant |
Aortic valve disease 1 [RCV001197227] |
Chr9:136523033 [GRCh38]
Chr9:139417485 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4313_4314delinsAA (p.Arg1438Gln) |
indel |
Familial thoracic aortic aneurysm and aortic dissection [RCV001171103] |
Chr9:136505582..136505583 [GRCh38]
Chr9:139400034..139400035 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2849C>T (p.Ala950Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001209658] |
Chr9:136509853 [GRCh38]
Chr9:139404305 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.961T>C (p.Cys321Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001043873] |
Chr9:136518729 [GRCh38]
Chr9:139413181 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3012G>C (p.Ser1004=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001170152] |
Chr9:136509029 [GRCh38]
Chr9:139403481 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2424C>A (p.Asp808Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001170161] |
Chr9:136513064 [GRCh38]
Chr9:139407516 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6630G>A (p.Leu2210=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001453374] |
Chr9:136497109 [GRCh38]
Chr9:139391561 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3756C>T (p.Ser1252=) |
single nucleotide variant |
not provided [RCV000935901] |
Chr9:136506861 [GRCh38]
Chr9:139401313 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5649C>T (p.Thr1883=) |
single nucleotide variant |
not provided [RCV000889815] |
Chr9:136500837 [GRCh38]
Chr9:139395289 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6300C>T (p.Ile2100=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001455581]|Familial thoracic aortic aneurysm and aortic dissection [RCV002363406] |
Chr9:136497439 [GRCh38]
Chr9:139391891 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.669C>T (p.Ser223=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001426118] |
Chr9:136522923 [GRCh38]
Chr9:139417375 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4272G>A (p.Leu1424=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001405506] |
Chr9:136505624 [GRCh38]
Chr9:139400076 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2354-6C>T |
single nucleotide variant |
not provided [RCV000912036] |
Chr9:136513140 [GRCh38]
Chr9:139407592 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1757C>T (p.Thr586Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748349]|not provided [RCV001537352] |
Chr9:136515629 [GRCh38]
Chr9:139410081 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5167+320A>G |
single nucleotide variant |
not provided [RCV001569625] |
Chr9:136502862 [GRCh38]
Chr9:139397314 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2326_2328del (p.Val776del) |
deletion |
Adams-Oliver syndrome 5 [RCV002857902] |
Chr9:136513417..136513419 [GRCh38]
Chr9:139407869..139407871 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1556-24C>T |
single nucleotide variant |
not provided [RCV001562566] |
Chr9:136516118 [GRCh38]
Chr9:139410570 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1206G>A (p.Ser402=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001866021]|Familial thoracic aortic aneurysm and aortic dissection [RCV002343745]|not provided [RCV001570052] |
Chr9:136518186 [GRCh38]
Chr9:139412638 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2467+115G>A |
single nucleotide variant |
not provided [RCV001557411] |
Chr9:136512906 [GRCh38]
Chr9:139407358 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2482G>A (p.Val828Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586297]|not provided [RCV001545808] |
Chr9:136511257 [GRCh38]
Chr9:139405709 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5425A>C (p.Asn1809His) |
single nucleotide variant |
not provided [RCV001545939] |
Chr9:136502048 [GRCh38]
Chr9:139396500 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2207+90A>G |
single nucleotide variant |
not provided [RCV001578143] |
Chr9:136514420 [GRCh38]
Chr9:139408872 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2759G>T (p.Gly920Val) |
single nucleotide variant |
not provided [RCV001559754] |
Chr9:136509943 [GRCh38]
Chr9:139404395 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1335G>A (p.Thr445=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002072152]|Aortic valve disease 1 [RCV002271261]|not provided [RCV001564429] |
Chr9:136517858 [GRCh38]
Chr9:139412310 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2668G>A (p.Gly890Ser) |
single nucleotide variant |
not provided [RCV001596482] |
Chr9:136510725 [GRCh38]
Chr9:139405177 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.743-14C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002072075]|Aortic valve disease 1 [RCV002271260]|not provided [RCV001555446] |
Chr9:136519579 [GRCh38]
Chr9:139414031 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.2207+155C>T |
single nucleotide variant |
not provided [RCV001560663] |
Chr9:136514355 [GRCh38]
Chr9:139408807 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4833C>G (p.His1611Gln) |
single nucleotide variant |
not provided [RCV003327940] |
Chr9:136504858 [GRCh38]
Chr9:139399310 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2740+311C>T |
single nucleotide variant |
not provided [RCV001547043] |
Chr9:136510342 [GRCh38]
Chr9:139404794 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3068A>G (p.Asn1023Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003771727]|Familial thoracic aortic aneurysm and aortic dissection [RCV003150446]|not provided [RCV001566468] |
Chr9:136508973 [GRCh38]
Chr9:139403425 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2467+34C>T |
single nucleotide variant |
not provided [RCV001561634] |
Chr9:136512987 [GRCh38]
Chr9:139407439 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5674G>A (p.Gly1892Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002271201]|Aortic valve disease 1 [RCV002271200]|Hemangioma [RCV001263415]|not provided [RCV001577372] |
Chr9:136500812 [GRCh38]
Chr9:139395264 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3715T>C (p.Phe1239Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001066644] |
Chr9:136506902 [GRCh38]
Chr9:139401354 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5248G>A (p.Val1750Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001066947]|Aortic valve disease 1 [RCV002271181]|not provided [RCV001847146] |
Chr9:136502408 [GRCh38]
Chr9:139396860 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.866-206G>A |
single nucleotide variant |
not provided [RCV001593384] |
Chr9:136519030 [GRCh38]
Chr9:139413482 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.866-74C>T |
single nucleotide variant |
not provided [RCV001538459] |
Chr9:136518898 [GRCh38]
Chr9:139413350 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4587-85C>T |
single nucleotide variant |
not provided [RCV001618968] |
Chr9:136505189 [GRCh38]
Chr9:139399641 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.3644-120T>C |
single nucleotide variant |
not provided [RCV001536840] |
Chr9:136507093 [GRCh38]
Chr9:139401545 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4443C>T (p.Leu1481=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748353]|not provided [RCV001723409] |
Chr9:136505453 [GRCh38]
Chr9:139399905 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5638+299dup |
duplication |
not provided [RCV001688124] |
Chr9:136501439..136501440 [GRCh38]
Chr9:139395891..139395892 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.3643+56A>T |
single nucleotide variant |
not provided [RCV001617235] |
Chr9:136507249 [GRCh38]
Chr9:139401701 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.3171+98G>T |
single nucleotide variant |
not provided [RCV001677819] |
Chr9:136508772 [GRCh38]
Chr9:139403224 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.5638+299T>C |
single nucleotide variant |
not provided [RCV001617242] |
Chr9:136501449 [GRCh38]
Chr9:139395901 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.1442-36C>T |
single nucleotide variant |
not provided [RCV001581572] |
Chr9:136517421 [GRCh38]
Chr9:139411873 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6680C>T (p.Pro2227Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002579461]|not provided [RCV001586952] |
Chr9:136497059 [GRCh38]
Chr9:139391511 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.7128G>T (p.Gln2376His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001882756]|Aortic valve disease 1 [RCV002271283]|not provided [RCV001658831] |
Chr9:136496611 [GRCh38]
Chr9:139391063 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.5167+77G>C |
single nucleotide variant |
not provided [RCV001718054] |
Chr9:136503105 [GRCh38]
Chr9:139397557 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.2643C>T (p.Gly881=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748350]|Familial thoracic aortic aneurysm and aortic dissection [RCV003382632]|NOTCH1-related condition [RCV003900828]|not provided [RCV001596463] |
Chr9:136510750 [GRCh38]
Chr9:139405202 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5019-10del |
deletion |
Familial thoracic aortic aneurysm and aortic dissection [RCV001171100] |
Chr9:136503340 [GRCh38]
Chr9:139397792 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3643+9C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002068048]|Familial thoracic aortic aneurysm and aortic dissection [RCV001171109]|not specified [RCV003331061] |
Chr9:136507296 [GRCh38]
Chr9:139401748 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5905G>A (p.Val1969Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001219805] |
Chr9:136500581 [GRCh38]
Chr9:139395033 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3455G>C (p.Ser1152Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001071293] |
Chr9:136508010 [GRCh38]
Chr9:139402462 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1636G>A (p.Gly546Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001071625] |
Chr9:136516014 [GRCh38]
Chr9:139410466 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3121G>A (p.Gly1041Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001043793]|Aortic valve disease 1 [RCV002271172]|not provided [RCV001569819] |
Chr9:136508920 [GRCh38]
Chr9:139403372 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.2869G>A (p.Gly957Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001050819]|Familial thoracic aortic aneurysm and aortic dissection [RCV003150380]|Inborn genetic diseases [RCV003243436] |
Chr9:136509833 [GRCh38]
Chr9:139404285 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1669+7G>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001170169] |
Chr9:136515974 [GRCh38]
Chr9:139410426 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2635C>A (p.Arg879=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001170156] |
Chr9:136510758 [GRCh38]
Chr9:139405210 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2593A>T (p.Thr865Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001170157] |
Chr9:136510800 [GRCh38]
Chr9:139405252 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4867G>A (p.Glu1623Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001171101] |
Chr9:136504824 [GRCh38]
Chr9:139399276 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4252G>A (p.Ala1418Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001069175] |
Chr9:136505644 [GRCh38]
Chr9:139400096 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NC_000009.12:g.(?_136496051)_(136523999_?)del |
deletion |
Adams-Oliver syndrome 5 [RCV001033124] |
Chr9:139390503..139418451 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5837G>A (p.Arg1946His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001069318]|Familial thoracic aortic aneurysm and aortic dissection [RCV003307929] |
Chr9:136500649 [GRCh38]
Chr9:139395101 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.148G>A (p.Gly50Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001047798]|Familial thoracic aortic aneurysm and aortic dissection [RCV002393235] |
Chr9:136523972 [GRCh38]
Chr9:139418424 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NC_000009.12:g.(?_136496071)_(136523980_?)del |
deletion |
Adams-Oliver syndrome 5 [RCV001033613] |
Chr9:139390523..139418432 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.3165C>A (p.Asn1055Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001223680] |
Chr9:136508876 [GRCh38]
Chr9:139403328 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2186C>T (p.Ala729Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001225548] |
Chr9:136514531 [GRCh38]
Chr9:139408983 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6738C>G (p.His2246Gln) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748314]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170919] |
Chr9:136497001 [GRCh38]
Chr9:139391453 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3643+111A>G |
single nucleotide variant |
not provided [RCV001614100] |
Chr9:136507194 [GRCh38]
Chr9:139401646 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.6180+44T>C |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001785835]|Aortic valve disease 1 [RCV001785834]|not provided [RCV001711048] |
Chr9:136498855 [GRCh38]
Chr9:139393307 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.2520C>T (p.Asn840=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002072306]|Aortic valve disease 1 [RCV002271271]|Familial thoracic aortic aneurysm and aortic dissection [RCV002425000]|not provided [RCV001584868] |
Chr9:136511219 [GRCh38]
Chr9:139405671 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.5168-43T>C |
single nucleotide variant |
not provided [RCV001652836] |
Chr9:136502531 [GRCh38]
Chr9:139396983 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.5638+298C>T |
single nucleotide variant |
not provided [RCV001671335] |
Chr9:136501450 [GRCh38]
Chr9:139395902 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.5019-132A>G |
single nucleotide variant |
not provided [RCV001587728] |
Chr9:136503462 [GRCh38]
Chr9:139397914 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NC_000009.12:g.(?_136496061)_(136523989_?)del |
deletion |
Adams-Oliver syndrome 5 [RCV001033315] |
Chr9:139390513..139418441 [GRCh37]
Chr9:9q34.3 |
pathogenic|uncertain significance |
| NM_017617.5(NOTCH1):c.3301T>C (p.Cys1101Arg) |
single nucleotide variant |
not provided [RCV001584789] |
Chr9:136508256 [GRCh38]
Chr9:139402708 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1669+4C>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001050208] |
Chr9:136515977 [GRCh38]
Chr9:139410429 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.62-230C>G |
single nucleotide variant |
not provided [RCV001583474] |
Chr9:136544332 [GRCh38]
Chr9:139438784 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NC_000009.11:g.(?_138594085)_(140062314_?)dup |
duplication |
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV001033771] |
Chr9:138594085..140062314 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5018+55C>T |
single nucleotide variant |
not provided [RCV001615835] |
Chr9:136504618 [GRCh38]
Chr9:139399070 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.5638+87A>T |
single nucleotide variant |
not provided [RCV001650420] |
Chr9:136501661 [GRCh38]
Chr9:139396113 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.1799G>T (p.Cys600Phe) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001070015] |
Chr9:136515587 [GRCh38]
Chr9:139410039 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2467+128G>T |
single nucleotide variant |
not provided [RCV001527758] |
Chr9:136512893 [GRCh38]
Chr9:139407345 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2740+14C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002070405]|not provided [RCV001579728] |
Chr9:136510639 [GRCh38]
Chr9:139405091 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3171+118C>G |
single nucleotide variant |
not provided [RCV001583731] |
Chr9:136508752 [GRCh38]
Chr9:139403204 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1442-27C>T |
single nucleotide variant |
not provided [RCV001586972] |
Chr9:136517412 [GRCh38]
Chr9:139411864 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1555+90G>A |
single nucleotide variant |
not provided [RCV001589657] |
Chr9:136517182 [GRCh38]
Chr9:139411634 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.*1339T>C |
single nucleotide variant |
not provided [RCV001709195] |
Chr9:136494732 [GRCh38]
Chr9:139389184 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.3172-118A>G |
single nucleotide variant |
not provided [RCV001539294] |
Chr9:136508503 [GRCh38]
Chr9:139402955 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.*2C>T |
single nucleotide variant |
not provided [RCV001587005] |
Chr9:136496069 [GRCh38]
Chr9:139390521 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3345G>T (p.Leu1115=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002072343]|Aortic valve disease 1 [RCV002271273]|not provided [RCV001590055] |
Chr9:136508120 [GRCh38]
Chr9:139402572 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3482C>T (p.Thr1161Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001866214]|Aortic valve disease 1 [RCV002271274]|not provided [RCV001590134] |
Chr9:136507983 [GRCh38]
Chr9:139402435 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.1496G>T (p.Cys499Phe) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001226818]|not provided [RCV003132301] |
Chr9:136517331 [GRCh38]
Chr9:139411783 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6393C>T (p.Gly2131=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001041607] |
Chr9:136497346 [GRCh38]
Chr9:139391798 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6254C>G (p.Ala2085Gly) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001059900] |
Chr9:136497485 [GRCh38]
Chr9:139391937 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5333C>G (p.Ala1778Gly) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001060044] |
Chr9:136502323 [GRCh38]
Chr9:139396775 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3583G>A (p.Gly1195Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001215732] |
Chr9:136507365 [GRCh38]
Chr9:139401817 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1760T>A (p.Phe587Tyr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001041675]|Aortic valve disease 1 [RCV002271171]|not provided [RCV001759741] |
Chr9:136515626 [GRCh38]
Chr9:139410078 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3685G>A (p.Val1229Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001236400]|Familial thoracic aortic aneurysm and aortic dissection [RCV002451568] |
Chr9:136506932 [GRCh38]
Chr9:139401384 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2226C>G (p.Asp742Glu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001035645] |
Chr9:136513519 [GRCh38]
Chr9:139407971 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.764A>G (p.Glu255Gly) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001232016] |
Chr9:136519544 [GRCh38]
Chr9:139413996 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.7238C>T (p.Pro2413Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001056562] |
Chr9:136496501 [GRCh38]
Chr9:139390953 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5725G>A (p.Val1909Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001236672] |
Chr9:136500761 [GRCh38]
Chr9:139395213 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4758_4759insCA (p.Asn1587fs) |
insertion |
Aortic valve disease 1 [RCV001249662] |
Chr9:136504932..136504933 [GRCh38]
Chr9:139399384..139399385 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.6392G>A (p.Gly2131Asp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001036508] |
Chr9:136497347 [GRCh38]
Chr9:139391799 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5720C>T (p.Pro1907Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001057243] |
Chr9:136500766 [GRCh38]
Chr9:139395218 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3441C>T (p.Asp1147=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002068049]|Aortic valve disease 1 [RCV002271188]|Familial thoracic aortic aneurysm and aortic dissection [RCV001171111]|NOTCH1-related condition [RCV003963110] |
Chr9:136508024 [GRCh38]
Chr9:139402476 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5768A>G (p.Gln1923Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001038926] |
Chr9:136500718 [GRCh38]
Chr9:139395170 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.658G>A (p.Val220Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001057341] |
Chr9:136522934 [GRCh38]
Chr9:139417386 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5385-1G>A |
single nucleotide variant |
Hypoplastic left heart syndrome [RCV001199408] |
Chr9:136502089 [GRCh38]
Chr9:139396541 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.4908G>T (p.Glu1636Asp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001208271] |
Chr9:136504783 [GRCh38]
Chr9:139399235 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4568G>A (p.Arg1523His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001061659]|Aortic valve disease 1 [RCV002505630]|Familial thoracic aortic aneurysm and aortic dissection [RCV003346293]|not provided [RCV002282446] |
Chr9:136505328 [GRCh38]
Chr9:139399780 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5608G>A (p.Asp1870Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001241489]|not provided [RCV003313198] |
Chr9:136501778 [GRCh38]
Chr9:139396230 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2644G>A (p.Ala882Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001211817]|Aortic valve disease 1 [RCV002069303]|Aortic valve disease 1 [RCV002271194]|Familial thoracic aortic aneurysm and aortic dissection [RCV002429900] |
Chr9:136510749 [GRCh38]
Chr9:139405201 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.5201T>A (p.Leu1734Gln) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001036836] |
Chr9:136502455 [GRCh38]
Chr9:139396907 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.547G>C (p.Gly183Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001058058] |
Chr9:136523045 [GRCh38]
Chr9:139417497 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5540A>C (p.His1847Pro) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001058177] |
Chr9:136501846 [GRCh38]
Chr9:139396298 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4513T>C (p.Cys1505Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001054189]|Cholesteatoma of middle ear [RCV003159075] |
Chr9:136505383 [GRCh38]
Chr9:139399835 [GRCh37]
Chr9:9q34.3 |
uncertain significance|other |
| NM_017617.5(NOTCH1):c.3181C>T (p.His1061Tyr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001246284]|Familial thoracic aortic aneurysm and aortic dissection [RCV002322160] |
Chr9:136508376 [GRCh38]
Chr9:139402828 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6748G>A (p.Ala2250Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001204693] |
Chr9:136496991 [GRCh38]
Chr9:139391443 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6397C>A (p.Pro2133Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001205231]|Aortic valve disease 1 [RCV002271192]|not provided [RCV001546821] |
Chr9:136497342 [GRCh38]
Chr9:139391794 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5026G>A (p.Val1676Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001245123] |
Chr9:136503323 [GRCh38]
Chr9:139397775 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2527G>A (p.Glu843Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001246930]|Familial thoracic aortic aneurysm and aortic dissection [RCV002430046]|not provided [RCV003738024]|not specified [RCV003331089] |
Chr9:136511212 [GRCh38]
Chr9:139405664 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.103G>A (p.Gly35Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001216503] |
Chr9:136544061 [GRCh38]
Chr9:139438513 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.428C>T (p.Pro143Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001052417]|NOTCH1-related condition [RCV003413856] |
Chr9:136523164 [GRCh38]
Chr9:139417616 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|uncertain significance |
| NM_017617.5(NOTCH1):c.4468T>G (p.Cys1490Gly) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001041134] |
Chr9:136505428 [GRCh38]
Chr9:139399880 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.931A>G (p.Thr311Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001170709] |
Chr9:136518759 [GRCh38]
Chr9:139413211 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5836C>T (p.Arg1946Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001204307] |
Chr9:136500650 [GRCh38]
Chr9:139395102 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2520CGG[1] (p.Gly842del) |
microsatellite |
Adams-Oliver syndrome 5 [RCV001059662]|Aortic valve disease 1 [RCV002271177]|not provided [RCV001760016] |
Chr9:136511214..136511216 [GRCh38]
Chr9:139405666..139405668 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6453C>T (p.Pro2151=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002067841]|Aortic valve disease 1 [RCV002271187]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170920]|not provided [RCV001725215] |
Chr9:136497286 [GRCh38]
Chr9:139391738 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.4984C>T (p.Arg1662Trp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001224400] |
Chr9:136504707 [GRCh38]
Chr9:139399159 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4136C>T (p.Thr1379Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001221907] |
Chr9:136505760 [GRCh38]
Chr9:139400212 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3040A>T (p.Thr1014Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001064053] |
Chr9:136509001 [GRCh38]
Chr9:139403453 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2003C>T (p.Pro668Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001035413]|Aortic valve disease 1 [RCV002271166]|not provided [RCV001530048] |
Chr9:136515301 [GRCh38]
Chr9:139409753 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.2474C>T (p.Thr825Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001222689] |
Chr9:136511265 [GRCh38]
Chr9:139405717 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1774C>T (p.Arg592Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001223355]|Aortic valve disease 1 [RCV002480736]|not provided [RCV001702090] |
Chr9:136515612 [GRCh38]
Chr9:139410064 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5214C>T (p.Tyr1738=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586272]|Familial thoracic aortic aneurysm and aortic dissection [RCV001171096] |
Chr9:136502442 [GRCh38]
Chr9:139396894 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.2434G>C (p.Gly812Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001170159] |
Chr9:136513054 [GRCh38]
Chr9:139407506 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2735G>A (p.Arg912Gln) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001071658]|Adams-Oliver syndrome 5 [RCV001535572] |
Chr9:136510658 [GRCh38]
Chr9:139405110 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance|not provided |
| NM_017617.5(NOTCH1):c.6375C>G (p.His2125Gln) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001054791]|Familial thoracic aortic aneurysm and aortic dissection [RCV003160435] |
Chr9:136497364 [GRCh38]
Chr9:139391816 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3140G>A (p.Cys1047Tyr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001054934] |
Chr9:136508901 [GRCh38]
Chr9:139403353 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.691G>A (p.Gly231Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001037031]|Adams-Oliver syndrome 5 [RCV001535731]|Familial thoracic aortic aneurysm and aortic dissection [RCV002363553] |
Chr9:136522901 [GRCh38]
Chr9:139417353 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance|not provided |
| NM_017617.5(NOTCH1):c.1136A>G (p.Asn379Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001205127] |
Chr9:136518256 [GRCh38]
Chr9:139412708 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5476G>A (p.Glu1826Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001244560]|Aortic valve disease 1 [RCV002271199]|Familial thoracic aortic aneurysm and aortic dissection [RCV002348832]|not provided [RCV001796412] |
Chr9:136501910 [GRCh38]
Chr9:139396362 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.3900C>T (p.Thr1300=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001873579]|Familial thoracic aortic aneurysm and aortic dissection [RCV001171107]|not specified [RCV003331060] |
Chr9:136506717 [GRCh38]
Chr9:139401169 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.677C>T (p.Pro226Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001217016] |
Chr9:136522915 [GRCh38]
Chr9:139417367 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6265A>G (p.Ile2089Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001204703] |
Chr9:136497474 [GRCh38]
Chr9:139391926 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4765T>C (p.Ser1589Pro) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001041526] |
Chr9:136504926 [GRCh38]
Chr9:139399378 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2580C>T (p.Gly860=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001041633] |
Chr9:136511159 [GRCh38]
Chr9:139405611 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3859C>T (p.Arg1287Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001209812] |
Chr9:136506758 [GRCh38]
Chr9:139401210 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.581C>T (p.Thr194Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001037840]|Aortic valve disease 1 [RCV002271168]|Familial thoracic aortic aneurysm and aortic dissection [RCV002354983]|not provided [RCV001759730] |
Chr9:136523011 [GRCh38]
Chr9:139417463 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.5356C>T (p.Pro1786Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001215731] |
Chr9:136502300 [GRCh38]
Chr9:139396752 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1721C>T (p.Pro574Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001228747] |
Chr9:136515665 [GRCh38]
Chr9:139410117 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7657G>A (p.Ala2553Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001062816] |
Chr9:136496082 [GRCh38]
Chr9:139390534 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7016C>A (p.Ala2339Asp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001048112]|Aortic valve disease 1 [RCV002271173]|Familial thoracic aortic aneurysm and aortic dissection [RCV001799033]|not provided [RCV001776105] |
Chr9:136496723 [GRCh38]
Chr9:139391175 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.752G>A (p.Gly251Asp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001063028] |
Chr9:136519556 [GRCh38]
Chr9:139414008 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1440C>A (p.Pro480=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001220001]|not provided [RCV001564308] |
Chr9:136517753 [GRCh38]
Chr9:139412205 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.448G>A (p.Ala150Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001220402]|Aortic valve disease 1 [RCV002271196]|not provided [RCV001508286] |
Chr9:136523144 [GRCh38]
Chr9:139417596 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.3700C>T (p.Arg1234Trp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001053271]|Familial thoracic aortic aneurysm and aortic dissection [RCV003160421] |
Chr9:136506917 [GRCh38]
Chr9:139401369 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4315G>A (p.Asp1439Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001053272]|Aortic valve disease 1 [RCV003448365]|not provided [RCV003130128] |
Chr9:136505581 [GRCh38]
Chr9:139400033 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1838G>A (p.Arg613His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001053602]|Familial thoracic aortic aneurysm and aortic dissection [RCV002409447] |
Chr9:136515548 [GRCh38]
Chr9:139410000 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2710T>C (p.Cys904Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001219931] |
Chr9:136510683 [GRCh38]
Chr9:139405135 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7151A>G (p.Gln2384Arg) |
single nucleotide variant |
Aortic valve disease 1 [RCV001253016] |
Chr9:136496588 [GRCh38]
Chr9:139391040 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| GRCh37/hg19 9q34.3(chr9:138225001-141015001) |
copy number loss |
Microcephaly [RCV001252947] |
Chr9:138225001..141015001 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NC_000009.11:g.(?_139018777)_(141018984_?)del |
deletion |
Kleefstra syndrome 1 [RCV001267844] |
Chr9:139018777..141018984 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| GRCh37/hg19 9q34.3(chr9:139420166-139787562)x1 |
copy number loss |
not provided [RCV001259535] |
Chr9:139420166..139787562 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1816G>A (p.Glu606Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV001265862] |
Chr9:136515570 [GRCh38]
Chr9:139410022 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.389del (p.Pro130fs) |
deletion |
Aortic valve disease 1 [RCV001255179] |
Chr9:136523731 [GRCh38]
Chr9:139418183 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.3853G>T (p.Val1285Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001350107]|Aortic valve disease 1 [RCV002271225]|Familial thoracic aortic aneurysm and aortic dissection [RCV003294374]|not provided [RCV001732132] |
Chr9:136506764 [GRCh38]
Chr9:139401216 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.5192C>T (p.Pro1731Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002573270]|not provided [RCV001581326] |
Chr9:136502464 [GRCh38]
Chr9:139396916 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1430T>A (p.Ile477Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV001266195] |
Chr9:136517763 [GRCh38]
Chr9:139412215 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1889T>C (p.Leu630Pro) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001257239]|not provided [RCV003318676] |
Chr9:136515497 [GRCh38]
Chr9:139409949 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2468-66C>T |
single nucleotide variant |
not provided [RCV001575640] |
Chr9:136511337 [GRCh38]
Chr9:139405789 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2252A>C (p.Asp751Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV001266833] |
Chr9:136513493 [GRCh38]
Chr9:139407945 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5384+34G>A |
single nucleotide variant |
not provided [RCV001641891] |
Chr9:136502238 [GRCh38]
Chr9:139396690 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.3609C>A (p.Asn1203Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001327907]|Familial thoracic aortic aneurysm and aortic dissection [RCV002456465] |
Chr9:136507339 [GRCh38]
Chr9:139401791 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7126C>A (p.Gln2376Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001338651]|Inborn genetic diseases [RCV002546851] |
Chr9:136496613 [GRCh38]
Chr9:139391065 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5661C>G (p.Ile1887Met) |
single nucleotide variant |
Aortic valve disease 1 [RCV001335844] |
Chr9:136500825 [GRCh38]
Chr9:139395277 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| GRCh37/hg19 9q34.3(chr9:139356644-139427066)x1 |
copy number loss |
not provided [RCV001281360] |
Chr9:139356644..139427066 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.3724G>A (p.Gly1242Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001296207] |
Chr9:136506893 [GRCh38]
Chr9:139401345 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3683C>T (p.Pro1228Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001296394] |
Chr9:136506934 [GRCh38]
Chr9:139401386 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5384+3G>C |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001330962] |
Chr9:136502269 [GRCh38]
Chr9:139396721 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NC_000009.11:g.(?_138594085)_(140062314_?)dup |
duplication |
Developmental and epileptic encephalopathy, 14 [RCV001305481]|Intellectual disability, autosomal dominant 8 [RCV001033771] |
Chr9:138594085..140062314 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6744C>G (p.Asn2248Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001306243]|Aortic valve disease 1 [RCV002271212]|Familial thoracic aortic aneurysm and aortic dissection [RCV002375376]|not provided [RCV001760364] |
Chr9:136496995 [GRCh38]
Chr9:139391447 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3544GAG[1] (p.Glu1183del) |
microsatellite |
Adams-Oliver syndrome 5 [RCV001306248] |
Chr9:136507399..136507401 [GRCh38]
Chr9:139401851..139401853 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4865G>A (p.Arg1622His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001339595]|Aortic valve disease 1 [RCV002271221]|not provided [RCV001552691] |
Chr9:136504826 [GRCh38]
Chr9:139399278 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5472+9C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001317524] |
Chr9:136501992 [GRCh38]
Chr9:139396444 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4675C>T (p.Leu1559=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001348908]|Familial thoracic aortic aneurysm and aortic dissection [RCV002341729] |
Chr9:136505016 [GRCh38]
Chr9:139399468 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.7472C>A (p.Ser2491Tyr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001315526] |
Chr9:136496267 [GRCh38]
Chr9:139390719 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2995G>A (p.Val999Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001339722]|Inborn genetic diseases [RCV002547390] |
Chr9:136509046 [GRCh38]
Chr9:139403498 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4297G>C (p.Gly1433Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001343100] |
Chr9:136505599 [GRCh38]
Chr9:139400051 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2898_2899delinsGA (p.Ser966_Tyr967delinsArgAsn) |
indel |
Adams-Oliver syndrome 5 [RCV001320336]|Aortic valve disease 1 [RCV002271217]|Familial thoracic aortic aneurysm and aortic dissection [RCV003166853]|not provided [RCV001760402] |
Chr9:136509803..136509804 [GRCh38]
Chr9:139404255..139404256 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2835C>G (p.Asp945Glu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001348439]|not specified [RCV003987844] |
Chr9:136509867 [GRCh38]
Chr9:139404319 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4294T>A (p.Phe1432Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001330961] |
Chr9:136505602 [GRCh38]
Chr9:139400054 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2002C>G (p.Pro668Ala) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001313537]|Aortic valve disease 1 [RCV002290688] |
Chr9:136515302 [GRCh38]
Chr9:139409754 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5473-8C>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001313755] |
Chr9:136501921 [GRCh38]
Chr9:139396373 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6739C>G (p.Leu2247Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001296857]|Aortic valve disease 1 [RCV002271208]|not provided [RCV001760339] |
Chr9:136497000 [GRCh38]
Chr9:139391452 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.1648T>G (p.Tyr550Asp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001335842] |
Chr9:136516002 [GRCh38]
Chr9:139410454 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6879C>T (p.Ala2293=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001397148] |
Chr9:136496860 [GRCh38]
Chr9:139391312 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2558T>G (p.Phe853Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001315786] |
Chr9:136511181 [GRCh38]
Chr9:139405633 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5573T>C (p.Met1858Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001339213]|Familial thoracic aortic aneurysm and aortic dissection [RCV003382535] |
Chr9:136501813 [GRCh38]
Chr9:139396265 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3520G>A (p.Gly1174Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001350631] |
Chr9:136507428 [GRCh38]
Chr9:139401880 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3771G>A (p.Pro1257=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001315973]|Familial thoracic aortic aneurysm and aortic dissection [RCV003294268]|not specified [RCV003323853] |
Chr9:136506846 [GRCh38]
Chr9:139401298 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1368C>T (p.Cys456=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001396677]|Familial thoracic aortic aneurysm and aortic dissection [RCV002384570]|NOTCH1-related condition [RCV003963267] |
Chr9:136517825 [GRCh38]
Chr9:139412277 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2937C>T (p.His979=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001394910]|Aortic valve disease 1 [RCV002070256] |
Chr9:136509765 [GRCh38]
Chr9:139404217 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2523C>T (p.Gly841=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001414771]|Familial thoracic aortic aneurysm and aortic dissection [RCV003160662] |
Chr9:136511216 [GRCh38]
Chr9:139405668 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2497T>A (p.Cys833Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001295971] |
Chr9:136511242 [GRCh38]
Chr9:139405694 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| GRCh37/hg19 9q34.3(chr9:139284464-141018984) |
copy number loss |
Cryptorchidism [RCV001352666] |
Chr9:139284464..141018984 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.4870G>C (p.Glu1624Gln) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001307310]|Familial thoracic aortic aneurysm and aortic dissection [RCV002327677] |
Chr9:136504821 [GRCh38]
Chr9:139399273 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1384C>G (p.Gln462Glu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001297823]|NOTCH1-related condition [RCV003399070] |
Chr9:136517809 [GRCh38]
Chr9:139412261 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6781G>T (p.Gly2261Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001368863]|Aortic valve disease 1 [RCV002271233]|Familial thoracic aortic aneurysm and aortic dissection [RCV002368192]|not provided [RCV001799764] |
Chr9:136496958 [GRCh38]
Chr9:139391410 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.2667C>T (p.Gly889=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001799349] |
Chr9:136510726 [GRCh38]
Chr9:139405178 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NC_000009.11:g.(?_139391202)_139531567del |
deletion |
Adams-Oliver syndrome 5 [RCV001382810] |
|
pathogenic |
| GRCh37/hg19 9q34.3(chr9:139315643-139465759)x1 |
copy number loss |
Hypoplastic left heart syndrome [RCV001353096] |
Chr9:139315643..139465759 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.2014+11del |
deletion |
Familial thoracic aortic aneurysm and aortic dissection [RCV001799347] |
Chr9:136515279 [GRCh38]
Chr9:139409731 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4835G>A (p.Gly1612Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001799354] |
Chr9:136504856 [GRCh38]
Chr9:139399308 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5447A>G (p.Glu1816Gly) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748359]|Familial thoracic aortic aneurysm and aortic dissection [RCV001799355] |
Chr9:136502026 [GRCh38]
Chr9:139396478 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5790C>T (p.Thr1930=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001415205]|Familial thoracic aortic aneurysm and aortic dissection [RCV003160664] |
Chr9:136500696 [GRCh38]
Chr9:139395148 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1661G>A (p.Cys554Tyr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001359588] |
Chr9:136515989 [GRCh38]
Chr9:139410441 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2889C>T (p.Cys963=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001413441]|Aortic valve disease 1 [RCV002271238]|Familial thoracic aortic aneurysm and aortic dissection [RCV002438957]|not provided [RCV001552005] |
Chr9:136509813 [GRCh38]
Chr9:139404265 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.705C>T (p.Pro235=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001433330] |
Chr9:136522887 [GRCh38]
Chr9:139417339 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1027G>A (p.Ala343Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001302994] |
Chr9:136518663 [GRCh38]
Chr9:139413115 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4103G>A (p.Arg1368His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001360317] |
Chr9:136505793 [GRCh38]
Chr9:139400245 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3980A>G (p.Asn1327Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001359164]|Aortic valve disease 1 [RCV002271227]|Familial thoracic aortic aneurysm and aortic dissection [RCV003150425]|not provided [RCV002261354] |
Chr9:136506561 [GRCh38]
Chr9:139401013 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.2630C>T (p.Pro877Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001349482] |
Chr9:136510763 [GRCh38]
Chr9:139405215 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3770C>T (p.Pro1257Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001370591] |
Chr9:136506847 [GRCh38]
Chr9:139401299 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.374A>T (p.Tyr125Phe) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001360577] |
Chr9:136523746 [GRCh38]
Chr9:139418198 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4537G>A (p.Gly1513Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001362613]|Aortic valve disease 1 [RCV002271228]|Familial thoracic aortic aneurysm and aortic dissection [RCV002341765]|not provided [RCV001664851] |
Chr9:136505359 [GRCh38]
Chr9:139399811 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.5795T>C (p.Leu1932Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001296599] |
Chr9:136500691 [GRCh38]
Chr9:139395143 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2851A>G (p.Ser951Gly) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002546427]|Aortic valve disease 1 [RCV001330960] |
Chr9:136509851 [GRCh38]
Chr9:139404303 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5350C>G (p.Arg1784Gly) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001373628] |
Chr9:136502306 [GRCh38]
Chr9:139396758 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3989G>A (p.Arg1330His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001373649]|Familial thoracic aortic aneurysm and aortic dissection [RCV002357275] |
Chr9:136506552 [GRCh38]
Chr9:139401004 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1851C>T (p.Thr617=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001422926] |
Chr9:136515535 [GRCh38]
Chr9:139409987 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2339G>A (p.Arg780Gln) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001434035] |
Chr9:136513406 [GRCh38]
Chr9:139407858 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7121C>T (p.Ala2374Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001373145] |
Chr9:136496618 [GRCh38]
Chr9:139391070 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.499C>T (p.Pro167Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001362244]|not provided [RCV003433123] |
Chr9:136523093 [GRCh38]
Chr9:139417545 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5455G>C (p.Glu1819Gln) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001373889]|Familial thoracic aortic aneurysm and aortic dissection [RCV002350720] |
Chr9:136502018 [GRCh38]
Chr9:139396470 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6585C>T (p.Gly2195=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001346302] |
Chr9:136497154 [GRCh38]
Chr9:139391606 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4312C>A (p.Arg1438Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001364033] |
Chr9:136505584 [GRCh38]
Chr9:139400036 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3905G>A (p.Arg1302His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001325304]|Aortic valve disease 1 [RCV002271218]|Aortic valve disease 1 [RCV002486302]|not provided [RCV001569169] |
Chr9:136506636 [GRCh38]
Chr9:139401088 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.5434G>A (p.Glu1812Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001299912]|Familial thoracic aortic aneurysm and aortic dissection [RCV003346436] |
Chr9:136502039 [GRCh38]
Chr9:139396491 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NC_000009.11:g.(?_139390513)_(139440248_?)dup |
duplication |
Adams-Oliver syndrome 5 [RCV001346440] |
Chr9:139390513..139440248 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6413dup (p.Leu2139fs) |
duplication |
Adams-Oliver syndrome 5 [RCV001346488] |
Chr9:136497325..136497326 [GRCh38]
Chr9:139391777..139391778 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4373C>T (p.Ala1458Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001368999]|Aortic valve disease 1 [RCV002271234]|Aortic valve disease 1 [RCV002493881]|Familial thoracic aortic aneurysm and aortic dissection [RCV003169892]|not provided [RCV001751728] |
Chr9:136505523 [GRCh38]
Chr9:139399975 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.3644-7C>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001364853] |
Chr9:136506980 [GRCh38]
Chr9:139401432 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5413C>T (p.Leu1805Phe) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001364904]|Aortic valve disease 1 [RCV002271231]|not provided [RCV001762630] |
Chr9:136502060 [GRCh38]
Chr9:139396512 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.4237C>T (p.Arg1413Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001316498] |
Chr9:136505659 [GRCh38]
Chr9:139400111 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3353A>G (p.His1118Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001345856] |
Chr9:136508112 [GRCh38]
Chr9:139402564 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1461C>T (p.Cys487=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001346685] |
Chr9:136517366 [GRCh38]
Chr9:139411818 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.7235C>G (p.Pro2412Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001364963] |
Chr9:136496504 [GRCh38]
Chr9:139390956 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6091G>A (p.Ala2031Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001340832]|Familial thoracic aortic aneurysm and aortic dissection [RCV003284225] |
Chr9:136498988 [GRCh38]
Chr9:139393440 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3230C>T (p.Thr1077Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001320235] |
Chr9:136508327 [GRCh38]
Chr9:139402779 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.748A>T (p.Thr250Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001301693] |
Chr9:136519560 [GRCh38]
Chr9:139414012 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4130C>T (p.Pro1377Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001324049] |
Chr9:136505766 [GRCh38]
Chr9:139400218 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4444A>G (p.Asn1482Asp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001365117]|NOTCH1-related condition [RCV003416269] |
Chr9:136505452 [GRCh38]
Chr9:139399904 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.700C>T (p.Arg234Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001323076]|Familial thoracic aortic aneurysm and aortic dissection [RCV002366190] |
Chr9:136522892 [GRCh38]
Chr9:139417344 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1750G>A (p.Val584Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001349486]|Aortic valve disease 1 [RCV002271224]|Familial thoracic aortic aneurysm and aortic dissection [RCV002413825]|not provided [RCV001527334] |
Chr9:136515636 [GRCh38]
Chr9:139410088 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.3547G>A (p.Glu1183Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001325611] |
Chr9:136507401 [GRCh38]
Chr9:139401853 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.578G>T (p.Gly193Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001373979] |
Chr9:136523014 [GRCh38]
Chr9:139417466 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.712G>A (p.Asp238Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001345090] |
Chr9:136522880 [GRCh38]
Chr9:139417332 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1868A>G (p.Asn623Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001361408]|not provided [RCV002509671] |
Chr9:136515518 [GRCh38]
Chr9:139409970 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.230T>G (p.Val77Gly) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001298251] |
Chr9:136523890 [GRCh38]
Chr9:139418342 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6668T>C (p.Phe2223Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001307804] |
Chr9:136497071 [GRCh38]
Chr9:139391523 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3404C>T (p.Ala1135Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001319103]|Aortic valve disease 1 [RCV002271216]|Familial thoracic aortic aneurysm and aortic dissection [RCV003382519]|not provided [RCV002222696] |
Chr9:136508061 [GRCh38]
Chr9:139402513 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.3879C>T (p.Cys1293=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001324290]|not provided [RCV003442847] |
Chr9:136506738 [GRCh38]
Chr9:139401190 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4741C>T (p.Pro1581Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001346158] |
Chr9:136504950 [GRCh38]
Chr9:139399402 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NC_000009.11:g.(?_139297240)_(139572028_?)dup |
duplication |
Familial aplasia of the vermis [RCV001372472] |
Chr9:139297240..139572028 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7372C>A (p.Pro2458Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001372476]|Aortic valve disease 1 [RCV002271235]|not provided [RCV001560052] |
Chr9:136496367 [GRCh38]
Chr9:139390819 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.5870A>C (p.Gln1957Pro) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001325796] |
Chr9:136500616 [GRCh38]
Chr9:139395068 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2207+6C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001344235] |
Chr9:136514504 [GRCh38]
Chr9:139408956 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2296G>A (p.Gly766Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586326]|Myeloproliferative neoplasm, unclassifiable [RCV002284274] |
Chr9:136513449 [GRCh38]
Chr9:139407901 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely benign |
| NM_017617.5(NOTCH1):c.6311G>A (p.Arg2104His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001322430] |
Chr9:136497428 [GRCh38]
Chr9:139391880 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1266C>G (p.Pro422=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001304984]|Familial thoracic aortic aneurysm and aortic dissection [RCV002447307] |
Chr9:136517927 [GRCh38]
Chr9:139412379 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2435G>C (p.Gly812Ala) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001298555] |
Chr9:136513053 [GRCh38]
Chr9:139407505 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.365T>G (p.Leu122Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001347835]|NOTCH1-related condition [RCV003918869] |
Chr9:136523755 [GRCh38]
Chr9:139418207 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.433G>A (p.Ala145Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001343127]|Aortic valve disease 1 [RCV002271223]|Cholesteatoma of middle ear [RCV003159076]|Familial thoracic aortic aneurysm and aortic dissection [RCV002329320]|not provided [RCV001751670] |
Chr9:136523159 [GRCh38]
Chr9:139417611 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance|other |
| NM_017617.5(NOTCH1):c.6456C>T (p.Gly2152=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001347941] |
Chr9:136497283 [GRCh38]
Chr9:139391735 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4142C>T (p.Pro1381Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001295657] |
Chr9:136505754 [GRCh38]
Chr9:139400206 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1070_1072del (p.Phe357del) |
deletion |
Aortic valve disease 1 [RCV001335840] |
Chr9:136518618..136518620 [GRCh38]
Chr9:139413070..139413072 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3866A>G (p.Asn1289Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001344522] |
Chr9:136506751 [GRCh38]
Chr9:139401203 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2420T>C (p.Ile807Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001344550] |
Chr9:136513068 [GRCh38]
Chr9:139407520 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2353G>A (p.Gly785Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001295713] |
Chr9:136513392 [GRCh38]
Chr9:139407844 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6536G>C (p.Arg2179Pro) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001309345] |
Chr9:136497203 [GRCh38]
Chr9:139391655 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6451C>T (p.Pro2151Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001324687] |
Chr9:136497288 [GRCh38]
Chr9:139391740 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5050C>A (p.Gln1684Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001350267]|Familial thoracic aortic aneurysm and aortic dissection [RCV003294376] |
Chr9:136503299 [GRCh38]
Chr9:139397751 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.242G>A (p.Gly81Asp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001358884] |
Chr9:136523878 [GRCh38]
Chr9:139418330 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.7157A>G (p.Gln2386Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001326853]|Aortic valve disease 1 [RCV002271219]|not provided [RCV001587347] |
Chr9:136496582 [GRCh38]
Chr9:139391034 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.7382G>T (p.Ser2461Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001308971] |
Chr9:136496357 [GRCh38]
Chr9:139390809 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.7175T>A (p.Met2392Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001297041] |
Chr9:136496564 [GRCh38]
Chr9:139391016 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NC_000009.11:g.(?_139258557)_(140003427_?)del |
deletion |
Predisposition to invasive fungal disease due to CARD9 deficiency [RCV001380370] |
Chr9:139258557..140003427 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.4587-8C>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001305950] |
Chr9:136505112 [GRCh38]
Chr9:139399564 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2153A>G (p.Asn718Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001330761]|not provided [RCV003324827] |
Chr9:136514564 [GRCh38]
Chr9:139409016 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.226G>A (p.Val76Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001367333] |
Chr9:136523894 [GRCh38]
Chr9:139418346 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1651dup (p.Thr551fs) |
duplication |
Hypoplastic left heart syndrome [RCV001291513] |
Chr9:136515998..136515999 [GRCh38]
Chr9:139410450..139410451 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.2741-1G>A |
single nucleotide variant |
Hypoplastic left heart syndrome [RCV001291514] |
Chr9:136509962 [GRCh38]
Chr9:139404414 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.4941G>A (p.Gln1647=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001365357] |
Chr9:136504750 [GRCh38]
Chr9:139399202 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5542C>A (p.Leu1848Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001366341]|Aortic valve disease 1 [RCV001353368] |
Chr9:136501844 [GRCh38]
Chr9:139396296 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.7114C>T (p.Arg2372Trp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001296336]|not provided [RCV003328668] |
Chr9:136496625 [GRCh38]
Chr9:139391077 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6767C>T (p.Ala2256Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001341249]|Aortic valve disease 1 [RCV002271222]|not provided [RCV001762570] |
Chr9:136496972 [GRCh38]
Chr9:139391424 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.1683G>A (p.Thr561=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001395764]|Familial thoracic aortic aneurysm and aortic dissection [RCV002404916] |
Chr9:136515703 [GRCh38]
Chr9:139410155 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4906G>A (p.Glu1636Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001297696] |
Chr9:136504785 [GRCh38]
Chr9:139399237 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5570C>G (p.Ala1857Gly) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001361169] |
Chr9:136501816 [GRCh38]
Chr9:139396268 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7327G>T (p.Val2443Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001370300] |
Chr9:136496412 [GRCh38]
Chr9:139390864 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4128C>G (p.Gly1376=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001395894] |
Chr9:136505768 [GRCh38]
Chr9:139400220 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3579G>T (p.Gln1193His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001303531]|Aortic valve disease 1 [RCV002271211]|Familial thoracic aortic aneurysm and aortic dissection [RCV002451682]|not provided [RCV001536208] |
Chr9:136507369 [GRCh38]
Chr9:139401821 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.3332A>G (p.Asp1111Gly) |
single nucleotide variant |
not provided [RCV001354680] |
Chr9:136508133 [GRCh38]
Chr9:139402585 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4763G>A (p.Ser1588Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001294373] |
Chr9:136504928 [GRCh38]
Chr9:139399380 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4309G>A (p.Gly1437Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001365835]|Aortic valve disease 1 [RCV002271232]|Familial thoracic aortic aneurysm and aortic dissection [RCV002329373]|not provided [RCV001586152] |
Chr9:136505587 [GRCh38]
Chr9:139400039 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.1256-15G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002070206]|Aortic valve disease 1 [RCV001335841] |
Chr9:136517952 [GRCh38]
Chr9:139412404 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1988A>T (p.Glu663Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001351717] |
Chr9:136515316 [GRCh38]
Chr9:139409768 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4587-9C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001469334] |
Chr9:136505113 [GRCh38]
Chr9:139399565 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3777C>T (p.Phe1259=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001478146] |
Chr9:136506840 [GRCh38]
Chr9:139401292 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4053C>A (p.Thr1351=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001416637] |
Chr9:136505843 [GRCh38]
Chr9:139400295 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5070G>A (p.Ser1690=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001495681]|Aortic valve disease 1 [RCV002271248]|Familial thoracic aortic aneurysm and aortic dissection [RCV002343671]|not provided [RCV001580598] |
Chr9:136503279 [GRCh38]
Chr9:139397731 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.636C>T (p.Gly212=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001470194] |
Chr9:136522956 [GRCh38]
Chr9:139417408 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2931G>C (p.Gly977=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001451225] |
Chr9:136509771 [GRCh38]
Chr9:139404223 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2631G>A (p.Pro877=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001435795] |
Chr9:136510762 [GRCh38]
Chr9:139405214 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4800G>A (p.Leu1600=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001436390]|Aortic valve disease 1 [RCV002271241]|NOTCH1-related condition [RCV003983896]|not provided [RCV001577727] |
Chr9:136504891 [GRCh38]
Chr9:139399343 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4363C>T (p.Gln1455Ter) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001385022] |
Chr9:136505533 [GRCh38]
Chr9:139399985 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.7230G>A (p.Pro2410=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001492545]|Familial thoracic aortic aneurysm and aortic dissection [RCV002377847] |
Chr9:136496509 [GRCh38]
Chr9:139390961 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4833C>T (p.His1611=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001468903] |
Chr9:136504858 [GRCh38]
Chr9:139399310 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6750G>A (p.Ala2250=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001475414]|Familial thoracic aortic aneurysm and aortic dissection [RCV002368457] |
Chr9:136496989 [GRCh38]
Chr9:139391441 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7251G>T (p.Pro2417=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001454641] |
Chr9:136496488 [GRCh38]
Chr9:139390940 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5502G>C (p.Leu1834=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001491453] |
Chr9:136501884 [GRCh38]
Chr9:139396336 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6083-10T>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001491471]|Aortic valve disease 1 [RCV002271247]|not provided [RCV001575463] |
Chr9:136499006 [GRCh38]
Chr9:139393458 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.1221G>A (p.Pro407=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001442099]|Familial thoracic aortic aneurysm and aortic dissection [RCV002358989] |
Chr9:136518171 [GRCh38]
Chr9:139412623 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3075C>T (p.Cys1025=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001474226]|Familial thoracic aortic aneurysm and aortic dissection [RCV002319719]|not specified [RCV003323886] |
Chr9:136508966 [GRCh38]
Chr9:139403418 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.474C>T (p.Phe158=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001480410] |
Chr9:136523118 [GRCh38]
Chr9:139417570 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2958C>T (p.Asp986=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001463292] |
Chr9:136509744 [GRCh38]
Chr9:139404196 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6135T>C (p.Val2045=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001400650]|not specified [RCV003399219] |
Chr9:136498944 [GRCh38]
Chr9:139393396 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5168-8G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001428656] |
Chr9:136502496 [GRCh38]
Chr9:139396948 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4590C>G (p.Pro1530=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001483003] |
Chr9:136505101 [GRCh38]
Chr9:139399553 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.612C>T (p.Cys204=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001403305] |
Chr9:136522980 [GRCh38]
Chr9:139417432 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3315G>A (p.Ala1105=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001486992]|Aortic valve disease 1 [RCV002271246]|not provided [RCV001555576] |
Chr9:136508242 [GRCh38]
Chr9:139402694 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2685C>T (p.Cys895=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001442505] |
Chr9:136510708 [GRCh38]
Chr9:139405160 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2754C>T (p.Asn918=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001474516]|not provided [RCV003130524] |
Chr9:136509948 [GRCh38]
Chr9:139404400 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1784_1787del (p.Tyr595fs) |
deletion |
Adams-Oliver syndrome 5 [RCV001388533] |
Chr9:136515599..136515602 [GRCh38]
Chr9:139410051..139410054 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.355C>T (p.Leu119=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001431831]|Familial thoracic aortic aneurysm and aortic dissection [RCV003346554] |
Chr9:136523765 [GRCh38]
Chr9:139418217 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6540G>A (p.Arg2180=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001398357]|Familial thoracic aortic aneurysm and aortic dissection [RCV002368253] |
Chr9:136497199 [GRCh38]
Chr9:139391651 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1555+9C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001404117] |
Chr9:136517263 [GRCh38]
Chr9:139411715 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.480C>T (p.Ala160=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001471539] |
Chr9:136523112 [GRCh38]
Chr9:139417564 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4743G>A (p.Pro1581=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001460504]|Familial thoracic aortic aneurysm and aortic dissection [RCV003298798] |
Chr9:136504948 [GRCh38]
Chr9:139399400 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1842C>T (p.His614=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001448442]|Familial thoracic aortic aneurysm and aortic dissection [RCV002414073] |
Chr9:136515544 [GRCh38]
Chr9:139409996 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5639-7T>C |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001448488] |
Chr9:136500854 [GRCh38]
Chr9:139395306 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6013C>T (p.Leu2005=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001406998] |
Chr9:136499181 [GRCh38]
Chr9:139393633 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3120C>T (p.Cys1040=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001409408] |
Chr9:136508921 [GRCh38]
Chr9:139403373 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2379C>T (p.Asn793=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001409467]|Familial thoracic aortic aneurysm and aortic dissection [RCV002456653] |
Chr9:136513109 [GRCh38]
Chr9:139407561 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6402C>T (p.Thr2134=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001411994] |
Chr9:136497337 [GRCh38]
Chr9:139391789 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2014+170C>T |
single nucleotide variant |
not provided [RCV001539274] |
Chr9:136515120 [GRCh38]
Chr9:139409572 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.3172-7T>C |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001443447] |
Chr9:136508392 [GRCh38]
Chr9:139402844 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3141C>T (p.Cys1047=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001406886]|Familial thoracic aortic aneurysm and aortic dissection [RCV003346543] |
Chr9:136508900 [GRCh38]
Chr9:139403352 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4329G>A (p.Pro1443=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001446323] |
Chr9:136505567 [GRCh38]
Chr9:139400019 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5271C>T (p.Ser1757=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001409877] |
Chr9:136502385 [GRCh38]
Chr9:139396837 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4396C>T (p.Gln1466Ter) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001387441] |
Chr9:136505500 [GRCh38]
Chr9:139399952 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.6096G>A (p.Leu2032=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001428966] |
Chr9:136498983 [GRCh38]
Chr9:139393435 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1476C>T (p.Asp492=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001443886]|Familial thoracic aortic aneurysm and aortic dissection [RCV003382586] |
Chr9:136517351 [GRCh38]
Chr9:139411803 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7554C>T (p.Asp2518=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001409861] |
Chr9:136496185 [GRCh38]
Chr9:139390637 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5473-6A>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001449122] |
Chr9:136501919 [GRCh38]
Chr9:139396371 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NC_000009.11:g.(?_139324107)_(139410566_?)del |
deletion |
Adams-Oliver syndrome 5 [RCV001378675] |
Chr9:139324107..139410566 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.2468-10C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001437532] |
Chr9:136511281 [GRCh38]
Chr9:139405733 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1770C>G (p.Leu590=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001407547] |
Chr9:136515616 [GRCh38]
Chr9:139410068 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.447C>T (p.Cys149=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001439014] |
Chr9:136523145 [GRCh38]
Chr9:139417597 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3262G>A (p.Gly1088Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001429078]|not provided [RCV001569885] |
Chr9:136508295 [GRCh38]
Chr9:139402747 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.213C>T (p.Ala71=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001405432] |
Chr9:136523907 [GRCh38]
Chr9:139418359 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4788C>T (p.Leu1596=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001440156] |
Chr9:136504903 [GRCh38]
Chr9:139399355 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6915T>C (p.Asn2305=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001447226] |
Chr9:136496824 [GRCh38]
Chr9:139391276 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1701C>T (p.Ile567=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001403202] |
Chr9:136515685 [GRCh38]
Chr9:139410137 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5183C>T (p.Pro1728Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001444778]|Familial thoracic aortic aneurysm and aortic dissection [RCV002341981]|not provided [RCV001562021] |
Chr9:136502473 [GRCh38]
Chr9:139396925 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4029C>A (p.Ala1343=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001408367] |
Chr9:136505867 [GRCh38]
Chr9:139400319 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5793C>A (p.Ala1931=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001398332] |
Chr9:136500693 [GRCh38]
Chr9:139395145 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6941T>C (p.Leu2314Pro) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001442090]|not provided [RCV001587413] |
Chr9:136496798 [GRCh38]
Chr9:139391250 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.27C>G (p.Leu9=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001437494]|not specified [RCV003323879] |
Chr9:136545760 [GRCh38]
Chr9:139440212 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.678C>G (p.Pro226=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001400050] |
Chr9:136522914 [GRCh38]
Chr9:139417366 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2820T>A (p.Thr940=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001410819] |
Chr9:136509882 [GRCh38]
Chr9:139404334 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5010C>T (p.Asp1670=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001437619] |
Chr9:136504681 [GRCh38]
Chr9:139399133 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1903+7G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001417829]|Familial thoracic aortic aneurysm and aortic dissection [RCV003150427] |
Chr9:136515476 [GRCh38]
Chr9:139409928 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1904-7C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001447633] |
Chr9:136515407 [GRCh38]
Chr9:139409859 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1977C>T (p.Ile659=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001416093] |
Chr9:136515327 [GRCh38]
Chr9:139409779 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.726G>A (p.Glu242=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001447963]|Familial thoracic aortic aneurysm and aortic dissection [RCV003160808] |
Chr9:136522866 [GRCh38]
Chr9:139417318 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2468-73C>G |
single nucleotide variant |
not provided [RCV001535010] |
Chr9:136511344 [GRCh38]
Chr9:139405796 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4830A>G (p.Ala1610=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001404132] |
Chr9:136504861 [GRCh38]
Chr9:139399313 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2844G>A (p.Glu948=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001429767] |
Chr9:136509858 [GRCh38]
Chr9:139404310 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5691G>A (p.Thr1897=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001411240]|Familial thoracic aortic aneurysm and aortic dissection [RCV002350789] |
Chr9:136500795 [GRCh38]
Chr9:139395247 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1556-8G>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001448066] |
Chr9:136516102 [GRCh38]
Chr9:139410554 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7605C>T (p.Gly2535=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001448247] |
Chr9:136496134 [GRCh38]
Chr9:139390586 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5222C>T (p.Ala1741Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002573256]|not provided [RCV001579814] |
Chr9:136502434 [GRCh38]
Chr9:139396886 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.5370C>T (p.Asp1790=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001427472] |
Chr9:136502286 [GRCh38]
Chr9:139396738 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2015-8G>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001411712] |
Chr9:136514710 [GRCh38]
Chr9:139409162 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.747C>T (p.Phe249=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001416641]|Familial thoracic aortic aneurysm and aortic dissection [RCV002395946] |
Chr9:136519561 [GRCh38]
Chr9:139414013 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.61+7G>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001401892]|not provided [RCV003433138] |
Chr9:136545719 [GRCh38]
Chr9:139440171 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2828A>G (p.Glu943Gly) |
single nucleotide variant |
not provided [RCV001532184] |
Chr9:136509874 [GRCh38]
Chr9:139404326 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2148G>C (p.Glu716Asp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001873774]|Aortic valve disease 1 [RCV002271257]|not provided [RCV001532185] |
Chr9:136514569 [GRCh38]
Chr9:139409021 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4596C>T (p.Tyr1532=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001450669]|Familial thoracic aortic aneurysm and aortic dissection [RCV003160820] |
Chr9:136505095 [GRCh38]
Chr9:139399547 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3326-9C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001481902] |
Chr9:136508148 [GRCh38]
Chr9:139402600 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4014+130_4014+131dup |
duplication |
not provided [RCV001655464] |
Chr9:136506383..136506384 [GRCh38]
Chr9:139400835..139400836 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.6770C>T (p.Ala2257Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002564287]|Familial thoracic aortic aneurysm and aortic dissection [RCV002368541]|not provided [RCV001509384] |
Chr9:136496969 [GRCh38]
Chr9:139391421 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4668G>A (p.Trp1556Ter) |
single nucleotide variant |
Adams-Oliver syndrome [RCV001693505] |
Chr9:136505023 [GRCh38]
Chr9:139399475 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.3579G>A (p.Gln1193=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001451065]|Aortic valve disease 1 [RCV002271243]|Familial thoracic aortic aneurysm and aortic dissection [RCV002456762]|not provided [RCV001587417] |
Chr9:136507369 [GRCh38]
Chr9:139401821 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4014+84G>A |
single nucleotide variant |
not provided [RCV001588149] |
Chr9:136506443 [GRCh38]
Chr9:139400895 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2588-5C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001479003]|Aortic valve disease 1 [RCV002271245]|Familial thoracic aortic aneurysm and aortic dissection [RCV002432341]|not provided [RCV001560180] |
Chr9:136510810 [GRCh38]
Chr9:139405262 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1555+105C>T |
single nucleotide variant |
not provided [RCV001645559] |
Chr9:136517167 [GRCh38]
Chr9:139411619 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.3354T>C (p.His1118=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001476345] |
Chr9:136508111 [GRCh38]
Chr9:139402563 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.404-147C>T |
single nucleotide variant |
not provided [RCV001581869] |
Chr9:136523335 [GRCh38]
Chr9:139417787 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2207+114G>A |
single nucleotide variant |
not provided [RCV001584726] |
Chr9:136514396 [GRCh38]
Chr9:139408848 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2354-28A>G |
single nucleotide variant |
not provided [RCV001593478] |
Chr9:136513162 [GRCh38]
Chr9:139407614 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3495C>T (p.Gly1165=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001496571]|Familial thoracic aortic aneurysm and aortic dissection [RCV003382612] |
Chr9:136507970 [GRCh38]
Chr9:139402422 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7413G>A (p.Ser2471=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001496574]|Aortic valve disease 1 [RCV002271249]|Familial thoracic aortic aneurysm and aortic dissection [RCV003298888]|not provided [RCV001581159] |
Chr9:136496326 [GRCh38]
Chr9:139390778 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.*14C>A |
single nucleotide variant |
not provided [RCV001592393] |
Chr9:136496057 [GRCh38]
Chr9:139390509 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1966C>T (p.Leu656=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001487618] |
Chr9:136515338 [GRCh38]
Chr9:139409790 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4671C>T (p.Asp1557=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001487631]|Familial thoracic aortic aneurysm and aortic dissection [RCV002329587] |
Chr9:136505020 [GRCh38]
Chr9:139399472 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4776C>T (p.Phe1592=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001470536] |
Chr9:136504915 [GRCh38]
Chr9:139399367 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1641C>G (p.Pro547=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001466815] |
Chr9:136516009 [GRCh38]
Chr9:139410461 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6496C>T (p.Leu2166=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001456013] |
Chr9:136497243 [GRCh38]
Chr9:139391695 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2067C>T (p.Asn689=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002573332]|not provided [RCV001585269] |
Chr9:136514650 [GRCh38]
Chr9:139409102 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.2740+117G>A |
single nucleotide variant |
not provided [RCV001714385] |
Chr9:136510536 [GRCh38]
Chr9:139404988 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.2014+94C>T |
single nucleotide variant |
not provided [RCV001654231] |
Chr9:136515196 [GRCh38]
Chr9:139409648 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.-2G>A |
single nucleotide variant |
not provided [RCV001592172] |
Chr9:136545788 [GRCh38]
Chr9:139440240 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5472+10G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001485230]|NOTCH1-related condition [RCV003900679] |
Chr9:136501991 [GRCh38]
Chr9:139396443 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5018+69C>T |
single nucleotide variant |
not provided [RCV001587563] |
Chr9:136504604 [GRCh38]
Chr9:139399056 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3171+42G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001785837]|Aortic valve disease 1 [RCV001785836]|not provided [RCV001714384] |
Chr9:136508828 [GRCh38]
Chr9:139403280 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.*136A>G |
single nucleotide variant |
not provided [RCV001679015] |
Chr9:136495935 [GRCh38]
Chr9:139390387 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.2811C>T (p.Phe937=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001456825] |
Chr9:136509891 [GRCh38]
Chr9:139404343 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2074A>G (p.Thr692Ala) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002271282]|Aortic valve disease 1 [RCV002271281]|Familial thoracic aortic aneurysm and aortic dissection [RCV001799112]|not provided [RCV001653081] |
Chr9:136514643 [GRCh38]
Chr9:139409095 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6498G>A (p.Leu2166=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001454106]|Familial thoracic aortic aneurysm and aortic dissection [RCV002359011] |
Chr9:136497241 [GRCh38]
Chr9:139391693 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6936C>T (p.Ser2312=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001456710] |
Chr9:136496803 [GRCh38]
Chr9:139391255 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3732C>T (p.Cys1244=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001456772]|Familial thoracic aortic aneurysm and aortic dissection [RCV002350921] |
Chr9:136506885 [GRCh38]
Chr9:139401337 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1670-7G>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001467042] |
Chr9:136515723 [GRCh38]
Chr9:139410175 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1215G>A (p.Thr405=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002564238]|not provided [RCV001508284] |
Chr9:136518177 [GRCh38]
Chr9:139412629 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5639-10G>C |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001482752] |
Chr9:136500857 [GRCh38]
Chr9:139395309 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2970-10C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001457004] |
Chr9:136509081 [GRCh38]
Chr9:139403533 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7134C>T (p.His2378=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001470600] |
Chr9:136496605 [GRCh38]
Chr9:139391057 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4137G>C (p.Thr1379=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001480030] |
Chr9:136505759 [GRCh38]
Chr9:139400211 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.94C>T (p.Leu32=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001458379]|Familial thoracic aortic aneurysm and aortic dissection [RCV003284335] |
Chr9:136544070 [GRCh38]
Chr9:139438522 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1599C>A (p.Ala533=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001496077] |
Chr9:136516051 [GRCh38]
Chr9:139410503 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7590C>T (p.Ser2530=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001455562]|Familial thoracic aortic aneurysm and aortic dissection [RCV002396063]|not provided [RCV003738074] |
Chr9:136496149 [GRCh38]
Chr9:139390601 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1556-23TCCCC[4] |
microsatellite |
Adams-Oliver syndrome 5 [RCV001468771] |
Chr9:136516102..136516103 [GRCh38]
Chr9:139410554..139410555 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.36G>T (p.Ala12=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001440124] |
Chr9:136545751 [GRCh38]
Chr9:139440203 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7401G>A (p.Ser2467=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001457707]|Familial thoracic aortic aneurysm and aortic dissection [RCV002384719] |
Chr9:136496338 [GRCh38]
Chr9:139390790 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1904-9C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001455755] |
Chr9:136515409 [GRCh38]
Chr9:139409861 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6756G>A (p.Lys2252=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001417810] |
Chr9:136496983 [GRCh38]
Chr9:139391435 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2969+7G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001466207]|not provided [RCV003238372] |
Chr9:136509726 [GRCh38]
Chr9:139404178 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.408A>G (p.Lys136=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001438485]|Aortic valve disease 1 [RCV002271242]|not provided [RCV001545155] |
Chr9:136523184 [GRCh38]
Chr9:139417636 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2859C>T (p.Pro953=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001467874] |
Chr9:136509843 [GRCh38]
Chr9:139404295 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1716C>T (p.Pro572=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001398398]|Familial thoracic aortic aneurysm and aortic dissection [RCV003169978] |
Chr9:136515670 [GRCh38]
Chr9:139410122 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4720C>T (p.Leu1574=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001430215] |
Chr9:136504971 [GRCh38]
Chr9:139399423 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6408G>A (p.Ser2136=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001462215]|Aortic valve disease 1 [RCV002271244]|Familial thoracic aortic aneurysm and aortic dissection [RCV003298803]|NOTCH1-related condition [RCV003938825]|not provided [RCV001577767] |
Chr9:136497331 [GRCh38]
Chr9:139391783 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1644C>T (p.Asn548=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001398806] |
Chr9:136516006 [GRCh38]
Chr9:139410458 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5019-7C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001428184] |
Chr9:136503337 [GRCh38]
Chr9:139397789 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1761C>T (p.Phe587=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001435626] |
Chr9:136515625 [GRCh38]
Chr9:139410077 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2895C>T (p.Asp965=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001418805]|Familial thoracic aortic aneurysm and aortic dissection [RCV002438976] |
Chr9:136509807 [GRCh38]
Chr9:139404259 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1356C>T (p.Asp452=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001481219]|Familial thoracic aortic aneurysm and aortic dissection [RCV002384783] |
Chr9:136517837 [GRCh38]
Chr9:139412289 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3819C>G (p.Ser1273=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001468372] |
Chr9:136506798 [GRCh38]
Chr9:139401250 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6749C>T (p.Ala2250Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002032770]|Aortic valve disease 1 [RCV002271289]|Familial thoracic aortic aneurysm and aortic dissection [RCV003382635]|not provided [RCV001756556] |
Chr9:136496990 [GRCh38]
Chr9:139391442 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.2670C>T (p.Gly890=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003108964] |
Chr9:136510723 [GRCh38]
Chr9:139405175 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4393C>G (p.Leu1465Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586304]|not provided [RCV001732451] |
Chr9:136505503 [GRCh38]
Chr9:139399955 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5168-20C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003108355] |
Chr9:136502508 [GRCh38]
Chr9:139396960 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3160C>A (p.Pro1054Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586305]|Familial thoracic aortic aneurysm and aortic dissection [RCV002324172]|not provided [RCV001732462] |
Chr9:136508881 [GRCh38]
Chr9:139403333 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5614A>G (p.Met1872Val) |
single nucleotide variant |
not provided [RCV001757017] |
Chr9:136501772 [GRCh38]
Chr9:139396224 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6403C>T (p.Leu2135=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748484]|Familial thoracic aortic aneurysm and aortic dissection [RCV003293745] |
Chr9:136497336 [GRCh38]
Chr9:139391788 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.1070T>C (p.Phe357Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002271291]|Aortic valve disease 1 [RCV002271290]|Familial thoracic aortic aneurysm and aortic dissection [RCV001799121]|not provided [RCV001763046] |
Chr9:136518620 [GRCh38]
Chr9:139413072 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5167+3A>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002544042]|Familial thoracic aortic aneurysm and aortic dissection [RCV002334668]|not provided [RCV001774061] |
Chr9:136503179 [GRCh38]
Chr9:139397631 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2773G>A (p.Gly925Ser) |
single nucleotide variant |
not provided [RCV001758354] |
Chr9:136509929 [GRCh38]
Chr9:139404381 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5140A>G (p.Ile1714Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002541031]|not provided [RCV003237996] |
Chr9:136503209 [GRCh38]
Chr9:139397661 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1646C>G (p.Thr549Ser) |
single nucleotide variant |
not provided [RCV001761111] |
Chr9:136516004 [GRCh38]
Chr9:139410456 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7046C>T (p.Pro2349Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002543907]|Familial thoracic aortic aneurysm and aortic dissection [RCV003485727]|not provided [RCV001733338] |
Chr9:136496693 [GRCh38]
Chr9:139391145 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1465G>T (p.Val489Phe) |
single nucleotide variant |
not provided [RCV001770966] |
Chr9:136517362 [GRCh38]
Chr9:139411814 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2368A>G (p.Thr790Ala) |
single nucleotide variant |
not provided [RCV001771015] |
Chr9:136513120 [GRCh38]
Chr9:139407572 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1719C>A (p.Asp573Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002414304]|not provided [RCV001754459] |
Chr9:136515667 [GRCh38]
Chr9:139410119 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4627G>A (p.Gly1543Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002538797]|not provided [RCV001767197] |
Chr9:136505064 [GRCh38]
Chr9:139399516 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6377G>C (p.Gly2126Ala) |
single nucleotide variant |
NOTCH1-related condition [RCV003976155]|not provided [RCV001767238] |
Chr9:136497362 [GRCh38]
Chr9:139391814 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3142C>T (p.Pro1048Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002324200]|not provided [RCV001787617] |
Chr9:136508899 [GRCh38]
Chr9:139403351 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1357G>A (p.Val453Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001882845]|Aortic valve disease 1 [RCV002271292]|not provided [RCV001752318] |
Chr9:136517836 [GRCh38]
Chr9:139412288 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.3710A>G (p.Lys1237Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002540537]|not provided [RCV001771361] |
Chr9:136506907 [GRCh38]
Chr9:139401359 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6721C>T (p.His2241Tyr) |
single nucleotide variant |
not provided [RCV001763229] |
Chr9:136497018 [GRCh38]
Chr9:139391470 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7426G>A (p.Val2476Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748354]|Familial thoracic aortic aneurysm and aortic dissection [RCV002386522]|not provided [RCV001767334] |
Chr9:136496313 [GRCh38]
Chr9:139390765 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.637C>G (p.Pro213Ala) |
single nucleotide variant |
not provided [RCV001773330] |
Chr9:136522955 [GRCh38]
Chr9:139417407 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1000G>A (p.Glu334Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001868654]|Aortic valve disease 1 [RCV002271298]|not provided [RCV001773334] |
Chr9:136518690 [GRCh38]
Chr9:139413142 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.2308G>A (p.Asp770Asn) |
single nucleotide variant |
not provided [RCV001787011] |
Chr9:136513437 [GRCh38]
Chr9:139407889 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5495C>G (p.Pro1832Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001868565]|Aortic valve disease 1 [RCV002271296]|not provided [RCV001763680] |
Chr9:136501891 [GRCh38]
Chr9:139396343 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.688G>A (p.Gly230Arg) |
single nucleotide variant |
not provided [RCV001752658] |
Chr9:136522904 [GRCh38]
Chr9:139417356 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2869G>C (p.Gly957Arg) |
single nucleotide variant |
not provided [RCV003237997] |
Chr9:136509833 [GRCh38]
Chr9:139404285 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2894A>G (p.Asp965Gly) |
single nucleotide variant |
not provided [RCV001767914] |
Chr9:136509808 [GRCh38]
Chr9:139404260 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3529G>A (p.Gly1177Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002544362]|Familial thoracic aortic aneurysm and aortic dissection [RCV001799351]|not provided [RCV002463034] |
Chr9:136507419 [GRCh38]
Chr9:139401871 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3990C>T (p.Arg1330=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002544363]|Familial thoracic aortic aneurysm and aortic dissection [RCV001799352]|not specified [RCV003323934] |
Chr9:136506551 [GRCh38]
Chr9:139401003 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.5155G>A (p.Glu1719Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001882862]|Aortic valve disease 1 [RCV002271293]|not provided [RCV001767064] |
Chr9:136503194 [GRCh38]
Chr9:139397646 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.19C>A (p.Pro7Thr) |
single nucleotide variant |
not provided [RCV001772648] |
Chr9:136545768 [GRCh38]
Chr9:139440220 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3832G>A (p.Ala1278Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002034475]|Aortic valve disease 1 [RCV002271294]|not provided [RCV001772712] |
Chr9:136506785 [GRCh38]
Chr9:139401237 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6623G>A (p.Gly2208Asp) |
single nucleotide variant |
not provided [RCV001767373] |
Chr9:136497116 [GRCh38]
Chr9:139391568 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7324G>C (p.Asp2442His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002386524]|not provided [RCV001754690] |
Chr9:136496415 [GRCh38]
Chr9:139390867 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6137T>C (p.Val2046Ala) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748358]|Familial thoracic aortic aneurysm and aortic dissection [RCV002359246]|not provided [RCV001772959] |
Chr9:136498942 [GRCh38]
Chr9:139393394 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2692G>A (p.Gly898Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002540249]|not provided [RCV001768557] |
Chr9:136510701 [GRCh38]
Chr9:139405153 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3862G>A (p.Val1288Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003771943]|not provided [RCV001768790] |
Chr9:136506755 [GRCh38]
Chr9:139401207 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1534T>C (p.Phe512Leu) |
single nucleotide variant |
not provided [RCV001768795] |
Chr9:136517293 [GRCh38]
Chr9:139411745 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.569G>A (p.Arg190His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586307]|not provided [RCV001766874] |
Chr9:136523023 [GRCh38]
Chr9:139417475 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3570C>A (p.His1190Gln) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586308]|not provided [RCV001766920] |
Chr9:136507378 [GRCh38]
Chr9:139401830 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3701G>A (p.Arg1234Gln) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001868479]|Aortic valve disease 1 [RCV002271295]|Familial thoracic aortic aneurysm and aortic dissection [RCV002343830]|not provided [RCV001767536] |
Chr9:136506916 [GRCh38]
Chr9:139401368 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.1739G>C (p.Cys580Ser) |
single nucleotide variant |
not provided [RCV001764862] |
Chr9:136515647 [GRCh38]
Chr9:139410099 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1441G>A (p.Gly481Ser) |
single nucleotide variant |
not provided [RCV001752179] |
Chr9:136517752 [GRCh38]
Chr9:139412204 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2417G>A (p.Cys806Tyr) |
single nucleotide variant |
not provided [RCV001751891] |
Chr9:136513071 [GRCh38]
Chr9:139407523 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.32T>G (p.Leu11Arg) |
single nucleotide variant |
not provided [RCV001751993] |
Chr9:136545755 [GRCh38]
Chr9:139440207 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3670G>A (p.Asp1224Asn) |
single nucleotide variant |
not provided [RCV001769001] |
Chr9:136506947 [GRCh38]
Chr9:139401399 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1681A>G (p.Thr561Ala) |
single nucleotide variant |
not provided [RCV001773888] |
Chr9:136515705 [GRCh38]
Chr9:139410157 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1267T>A (p.Cys423Ser) |
single nucleotide variant |
not provided [RCV001773902] |
Chr9:136517926 [GRCh38]
Chr9:139412378 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1961C>T (p.Thr654Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003772011]|not provided [RCV001752400] |
Chr9:136515343 [GRCh38]
Chr9:139409795 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3893G>C (p.Gly1298Ala) |
single nucleotide variant |
not provided [RCV001752058] |
Chr9:136506724 [GRCh38]
Chr9:139401176 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5513C>T (p.Thr1838Ile) |
single nucleotide variant |
not provided [RCV001764802] |
Chr9:136501873 [GRCh38]
Chr9:139396325 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2035A>G (p.Ile679Val) |
single nucleotide variant |
not provided [RCV001774145] |
Chr9:136514682 [GRCh38]
Chr9:139409134 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1619G>A (p.Gly540Asp) |
single nucleotide variant |
not provided [RCV001752544] |
Chr9:136516031 [GRCh38]
Chr9:139410483 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.29G>A (p.Cys10Tyr) |
single nucleotide variant |
not provided [RCV001757150] |
Chr9:136545758 [GRCh38]
Chr9:139440210 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4664A>G (p.Glu1555Gly) |
single nucleotide variant |
not provided [RCV001774437] |
Chr9:136505027 [GRCh38]
Chr9:139399479 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3845A>G (p.Gln1282Arg) |
single nucleotide variant |
not provided [RCV001765450] |
Chr9:136506772 [GRCh38]
Chr9:139401224 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6401C>T (p.Thr2134Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002544067]|Familial thoracic aortic aneurysm and aortic dissection [RCV002361030]|not provided [RCV001765458] |
Chr9:136497338 [GRCh38]
Chr9:139391790 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2842G>A (p.Glu948Lys) |
single nucleotide variant |
not provided [RCV001770684] |
Chr9:136509860 [GRCh38]
Chr9:139404312 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3496G>C (p.Gly1166Arg) |
single nucleotide variant |
not provided [RCV001769168] |
Chr9:136507969 [GRCh38]
Chr9:139402421 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3271G>C (p.Gly1091Arg) |
single nucleotide variant |
not provided [RCV001769171] |
Chr9:136508286 [GRCh38]
Chr9:139402738 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.35C>T (p.Ala12Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001868647]|Aortic valve disease 1 [RCV002271297]|Aortic valve disease 1 [RCV002503231]|Familial thoracic aortic aneurysm and aortic dissection [RCV002458593]|not provided [RCV001765924] |
Chr9:136545752 [GRCh38]
Chr9:139440204 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3395G>A (p.Arg1132His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003771903]|Familial thoracic aortic aneurysm and aortic dissection [RCV002458572]|not provided [RCV001754181] |
Chr9:136508070 [GRCh38]
Chr9:139402522 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.997A>C (p.Ser333Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002539852]|not provided [RCV001754255] |
Chr9:136518693 [GRCh38]
Chr9:139413145 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.718A>G (p.Thr240Ala) |
single nucleotide variant |
not provided [RCV001758350] |
Chr9:136522874 [GRCh38]
Chr9:139417326 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1A>C (p.Met1Leu) |
single nucleotide variant |
not provided [RCV001782535] |
Chr9:136545786 [GRCh38]
Chr9:139440238 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.2467+5G>A |
single nucleotide variant |
not provided [RCV001806956] |
Chr9:136513016 [GRCh38]
Chr9:139407468 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7385C>T (p.Pro2462Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002539813]|Familial thoracic aortic aneurysm and aortic dissection [RCV002386509]|not provided [RCV001732939] |
Chr9:136496354 [GRCh38]
Chr9:139390806 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.3555dup (p.Glu1186fs) |
duplication |
not provided [RCV001784751] |
Chr9:136507392..136507393 [GRCh38]
Chr9:139401844..139401845 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.1295C>G (p.Thr432Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002539825]|not provided [RCV001733349] |
Chr9:136517898 [GRCh38]
Chr9:139412350 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.951T>G (p.Gly317=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001799357] |
Chr9:136518739 [GRCh38]
Chr9:139413191 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5629C>T (p.Arg1877Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001945036]|Familial thoracic aortic aneurysm and aortic dissection [RCV002344021] |
Chr9:136501757 [GRCh38]
Chr9:139396209 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2970-10C>A |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001799350] |
Chr9:136509081 [GRCh38]
Chr9:139403533 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2679C>T (p.Cys893=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586312]|not provided [RCV001787568] |
Chr9:136510714 [GRCh38]
Chr9:139405166 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2528A>G (p.Glu843Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV001799348] |
Chr9:136511211 [GRCh38]
Chr9:139405663 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4588C>T (p.Pro1530Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002034668]|Aortic valve disease 1 [RCV002271304]|Familial thoracic aortic aneurysm and aortic dissection [RCV001799353] |
Chr9:136505103 [GRCh38]
Chr9:139399555 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5595T>A (p.Gly1865=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002271306]|Aortic valve disease 1 [RCV002271305]|Familial thoracic aortic aneurysm and aortic dissection [RCV001799356]|not provided [RCV001885233] |
Chr9:136501791 [GRCh38]
Chr9:139396243 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.541G>A (p.Glu181Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003120662]|not provided [RCV001758209] |
Chr9:136523051 [GRCh38]
Chr9:139417503 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.314C>G (p.Ala105Gly) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002540463]|not provided [RCV001763654] |
Chr9:136523806 [GRCh38]
Chr9:139418258 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5522G>A (p.Arg1841Gln) |
single nucleotide variant |
not provided [RCV001760986] |
Chr9:136501864 [GRCh38]
Chr9:139396316 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4020C>A (p.Phe1340Leu) |
single nucleotide variant |
not provided [RCV001757267] |
Chr9:136505876 [GRCh38]
Chr9:139400328 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4014G>C (p.Ala1338=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748356]|not provided [RCV001758420] |
Chr9:136506527 [GRCh38]
Chr9:139400979 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2743C>T (p.Pro915Ser) |
single nucleotide variant |
not provided [RCV001758542] |
Chr9:136509959 [GRCh38]
Chr9:139404411 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4096G>C (p.Gly1366Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002540416]|not provided [RCV001758713] |
Chr9:136505800 [GRCh38]
Chr9:139400252 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3746G>C (p.Gly1249Ala) |
single nucleotide variant |
not provided [RCV001806273] |
Chr9:136506871 [GRCh38]
Chr9:139401323 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.46G>A (p.Ala16Thr) |
single nucleotide variant |
not provided [RCV001806589] |
Chr9:136545741 [GRCh38]
Chr9:139440193 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2910C>T (p.Thr970=) |
single nucleotide variant |
Abnormality of connective tissue [RCV001814615] |
Chr9:136509792 [GRCh38]
Chr9:139404244 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6778G>C (p.Gly2260Arg) |
single nucleotide variant |
not provided [RCV001806578] |
Chr9:136496961 [GRCh38]
Chr9:139391413 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2125C>A (p.His709Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002009031] |
Chr9:136514592 [GRCh38]
Chr9:139409044 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6232A>G (p.Lys2078Glu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002008280] |
Chr9:136497507 [GRCh38]
Chr9:139391959 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.557C>T (p.Pro186Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002009058] |
Chr9:136523035 [GRCh38]
Chr9:139417487 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4662C>T (p.Cys1554=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001915371]|not provided [RCV003883718] |
Chr9:136505029 [GRCh38]
Chr9:139399481 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.7417del (p.Val2473fs) |
deletion |
Adams-Oliver syndrome 5 [RCV001895055] |
Chr9:136496322 [GRCh38]
Chr9:139390774 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6395C>T (p.Thr2132Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001950574]|not provided [RCV003234142] |
Chr9:136497344 [GRCh38]
Chr9:139391796 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6157A>C (p.Asn2053His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001837318] |
Chr9:136498922 [GRCh38]
Chr9:139393374 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4810G>A (p.Val1604Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002008933] |
Chr9:136504881 [GRCh38]
Chr9:139399333 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.7658C>T (p.Ala2553Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002009290] |
Chr9:136496081 [GRCh38]
Chr9:139390533 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4776C>A (p.Phe1592Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001914407] |
Chr9:136504915 [GRCh38]
Chr9:139399367 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3045C>T (p.Gly1015=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001950524] |
Chr9:136508996 [GRCh38]
Chr9:139403448 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.865+2C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001864462]|Familial thoracic aortic aneurysm and aortic dissection [RCV002370415] |
Chr9:136519441 [GRCh38]
Chr9:139413893 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6147G>C (p.Lys2049Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001971762] |
Chr9:136498932 [GRCh38]
Chr9:139393384 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2038G>A (p.Asp680Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001985981]|Familial thoracic aortic aneurysm and aortic dissection [RCV002423187] |
Chr9:136514679 [GRCh38]
Chr9:139409131 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5651C>T (p.Pro1884Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001863802] |
Chr9:136500835 [GRCh38]
Chr9:139395287 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1888C>G (p.Leu630Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001896275] |
Chr9:136515498 [GRCh38]
Chr9:139409950 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4383G>T (p.Lys1461Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001874721] |
Chr9:136505513 [GRCh38]
Chr9:139399965 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6551A>G (p.Gln2184Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001874077] |
Chr9:136497188 [GRCh38]
Chr9:139391640 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.428del (p.Pro143fs) |
deletion |
Adams-Oliver syndrome 5 [RCV001964937]|not provided [RCV003326595] |
Chr9:136523164 [GRCh38]
Chr9:139417616 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.773T>C (p.Ile258Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001967523]|Inborn genetic diseases [RCV002560717] |
Chr9:136519535 [GRCh38]
Chr9:139413987 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5731T>C (p.Ser1911Pro) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001895421] |
Chr9:136500755 [GRCh38]
Chr9:139395207 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6180+1G>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001966952] |
Chr9:136498898 [GRCh38]
Chr9:139393350 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3232C>T (p.His1078Tyr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001987432] |
Chr9:136508325 [GRCh38]
Chr9:139402777 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2039A>G (p.Asp680Gly) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002039550] |
Chr9:136514678 [GRCh38]
Chr9:139409130 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3649C>T (p.His1217Tyr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002008662] |
Chr9:136506968 [GRCh38]
Chr9:139401420 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4052C>T (p.Thr1351Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001896145] |
Chr9:136505844 [GRCh38]
Chr9:139400296 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6067G>A (p.Ala2023Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002008167] |
Chr9:136499127 [GRCh38]
Chr9:139393579 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6968A>G (p.Tyr2323Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001988736] |
Chr9:136496771 [GRCh38]
Chr9:139391223 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6869G>T (p.Ser2290Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001863918] |
Chr9:136496870 [GRCh38]
Chr9:139391322 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6924C>G (p.Cys2308Trp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001988085] |
Chr9:136496815 [GRCh38]
Chr9:139391267 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1214C>T (p.Thr405Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001929533]|Familial thoracic aortic aneurysm and aortic dissection [RCV002352600]|not provided [RCV002463073] |
Chr9:136518178 [GRCh38]
Chr9:139412630 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6029T>C (p.Met2010Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001968615] |
Chr9:136499165 [GRCh38]
Chr9:139393617 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) |
copy number gain |
not specified [RCV002053823] |
Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.505A>G (p.Ser169Gly) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002001902] |
Chr9:136523087 [GRCh38]
Chr9:139417539 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| GRCh37/hg19 9q34.3(chr9:139282807-141020389) |
copy number loss |
not specified [RCV002052852] |
Chr9:139282807..141020389 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.2786C>A (p.Ala929Asp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002022454] |
Chr9:136509916 [GRCh38]
Chr9:139404368 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.403+3del |
deletion |
Adams-Oliver syndrome 5 [RCV002004455] |
Chr9:136523714 [GRCh38]
Chr9:139418166 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4100C>T (p.Pro1367Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001966900] |
Chr9:136505796 [GRCh38]
Chr9:139400248 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3886C>A (p.Arg1296Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001982848] |
Chr9:136506731 [GRCh38]
Chr9:139401183 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6748G>T (p.Ala2250Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001892326] |
Chr9:136496991 [GRCh38]
Chr9:139391443 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4802A>G (p.His1601Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001889160] |
Chr9:136504889 [GRCh38]
Chr9:139399341 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3110A>G (p.Gln1037Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002021694] |
Chr9:136508931 [GRCh38]
Chr9:139403383 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6871G>A (p.Gly2291Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001894961] |
Chr9:136496868 [GRCh38]
Chr9:139391320 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2675G>A (p.Arg892His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001947761] |
Chr9:136510718 [GRCh38]
Chr9:139405170 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6921A>G (p.Gln2307=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001895619]|Familial thoracic aortic aneurysm and aortic dissection [RCV002370442] |
Chr9:136496818 [GRCh38]
Chr9:139391270 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5270C>T (p.Ser1757Phe) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002008149] |
Chr9:136502386 [GRCh38]
Chr9:139396838 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4162A>C (p.Ser1388Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001983256] |
Chr9:136505734 [GRCh38]
Chr9:139400186 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6637G>A (p.Val2213Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001913683]|Familial thoracic aortic aneurysm and aortic dissection [RCV002361222] |
Chr9:136497102 [GRCh38]
Chr9:139391554 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6791T>A (p.Leu2264Gln) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002024695] |
Chr9:136496948 [GRCh38]
Chr9:139391400 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| GRCh37/hg19 9q34.3(chr9:138740078-141020389) |
copy number loss |
not specified [RCV002052850] |
Chr9:138740078..141020389 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.6350A>C (p.Asn2117Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001872626]|Familial thoracic aortic aneurysm and aortic dissection [RCV003164210] |
Chr9:136497389 [GRCh38]
Chr9:139391841 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2468-5C>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001986229] |
Chr9:136511276 [GRCh38]
Chr9:139405728 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5234T>C (p.Val1745Ala) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001914081]|Inborn genetic diseases [RCV002560423]|not provided [RCV003134249] |
Chr9:136502422 [GRCh38]
Chr9:139396874 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3960C>T (p.Gly1320=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001890011] |
Chr9:136506581 [GRCh38]
Chr9:139401033 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4357G>A (p.Glu1453Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001926714] |
Chr9:136505539 [GRCh38]
Chr9:139399991 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.7260C>T (p.Gly2420=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001892158] |
Chr9:136496479 [GRCh38]
Chr9:139390931 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3214G>A (p.Gly1072Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002550514]|Familial thoracic aortic aneurysm and aortic dissection [RCV002324513]|not provided [RCV002052375] |
Chr9:136508343 [GRCh38]
Chr9:139402795 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2116G>A (p.Glu706Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002043807] |
Chr9:136514601 [GRCh38]
Chr9:139409053 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2155G>T (p.Glu719Ter) |
single nucleotide variant |
KA-like vemurafenib-induced squamous lesions [RCV001849872] |
Chr9:136514562 [GRCh38]
Chr9:139409014 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.5765A>G (p.Asn1922Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001948995]|Familial thoracic aortic aneurysm and aortic dissection [RCV003150473] |
Chr9:136500721 [GRCh38]
Chr9:139395173 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2207+14C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001911681] |
Chr9:136514496 [GRCh38]
Chr9:139408948 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.743-3C>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001984089] |
Chr9:136519568 [GRCh38]
Chr9:139414020 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5777G>T (p.Arg1926Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001947829] |
Chr9:136500709 [GRCh38]
Chr9:139395161 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3463C>T (p.Gln1155Ter) |
single nucleotide variant |
Keratoacanthoma [RCV001849784] |
Chr9:136508002 [GRCh38]
Chr9:139402454 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NC_000009.11:g.(?_137534034)_(139440238_?)dup |
duplication |
Adams-Oliver syndrome 5 [RCV003120731]|Ehlers-Danlos syndrome, classic type, 1 [RCV001872736] |
Chr9:137534034..139440238 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5671A>G (p.Ser1891Gly) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002003561] |
Chr9:136500815 [GRCh38]
Chr9:139395267 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1800_1801dup (p.Glu601fs) |
duplication |
Adams-Oliver syndrome 5 [RCV001913506] |
Chr9:136515584..136515585 [GRCh38]
Chr9:139410036..139410037 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.6812C>T (p.Pro2271Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001969565] |
Chr9:136496927 [GRCh38]
Chr9:139391379 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3539G>A (p.Cys1180Tyr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002003674] |
Chr9:136507409 [GRCh38]
Chr9:139401861 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.68G>C (p.Arg23Pro) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002001927]|Familial thoracic aortic aneurysm and aortic dissection [RCV002370567] |
Chr9:136544096 [GRCh38]
Chr9:139438548 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4981C>T (p.Arg1661Trp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001945250] |
Chr9:136504710 [GRCh38]
Chr9:139399162 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2272G>T (p.Glu758Ter) |
single nucleotide variant |
Keratoacanthoma [RCV001849733] |
Chr9:136513473 [GRCh38]
Chr9:139407925 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.2876A>C (p.Asn959Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001890649] |
Chr9:136509826 [GRCh38]
Chr9:139404278 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2319_2354-74del |
deletion |
Adams-Oliver syndrome 5 [RCV002020259] |
Chr9:136513208..136513426 [GRCh38]
Chr9:139407660..139407878 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.305T>G (p.Leu102Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001888043] |
Chr9:136523815 [GRCh38]
Chr9:139418267 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6054C>A (p.His2018Gln) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001933759] |
Chr9:136499140 [GRCh38]
Chr9:139393592 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.587A>G (p.His196Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001975457] |
Chr9:136523005 [GRCh38]
Chr9:139417457 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6373C>T (p.His2125Tyr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001944531] |
Chr9:136497366 [GRCh38]
Chr9:139391818 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.362C>T (p.Thr121Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001959242] |
Chr9:136523758 [GRCh38]
Chr9:139418210 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.347C>T (p.Thr116Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001888592] |
Chr9:136523773 [GRCh38]
Chr9:139418225 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7198G>A (p.Ala2400Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001880571] |
Chr9:136496541 [GRCh38]
Chr9:139390993 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4740G>A (p.Met1580Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001940490] |
Chr9:136504951 [GRCh38]
Chr9:139399403 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4411G>A (p.Ala1471Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001886672] |
Chr9:136505485 [GRCh38]
Chr9:139399937 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.62-3T>C |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001961888] |
Chr9:136544105 [GRCh38]
Chr9:139438557 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2641G>A (p.Gly881Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002027314] |
Chr9:136510752 [GRCh38]
Chr9:139405204 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6025G>A (p.Gly2009Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001978767] |
Chr9:136499169 [GRCh38]
Chr9:139393621 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3787C>T (p.Arg1263Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002545283]|not provided [RCV002034871] |
Chr9:136506830 [GRCh38]
Chr9:139401282 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4664A>C (p.Glu1555Ala) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001887391] |
Chr9:136505027 [GRCh38]
Chr9:139399479 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4312C>T (p.Arg1438Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001939021] |
Chr9:136505584 [GRCh38]
Chr9:139400036 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4483C>T (p.Gln1495Ter) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001999794] |
Chr9:136505413 [GRCh38]
Chr9:139399865 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.1894G>A (p.Gly632Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001952316] |
Chr9:136515492 [GRCh38]
Chr9:139409944 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3748G>A (p.Gly1250Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001943387] |
Chr9:136506869 [GRCh38]
Chr9:139401321 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1442G>T (p.Gly481Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001962664] |
Chr9:136517385 [GRCh38]
Chr9:139411837 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7147C>T (p.Gln2383Ter) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002015207] |
Chr9:136496592 [GRCh38]
Chr9:139391044 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2655G>C (p.Gln885His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002038332] |
Chr9:136510738 [GRCh38]
Chr9:139405190 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3112G>A (p.Asp1038Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001883631] |
Chr9:136508929 [GRCh38]
Chr9:139403381 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.98A>G (p.Asn33Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001981025] |
Chr9:136544066 [GRCh38]
Chr9:139438518 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1007T>C (p.Ile336Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001960152]|Familial thoracic aortic aneurysm and aortic dissection [RCV002425282] |
Chr9:136518683 [GRCh38]
Chr9:139413135 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4328C>T (p.Pro1443Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001981091]|Familial thoracic aortic aneurysm and aortic dissection [RCV002331583] |
Chr9:136505568 [GRCh38]
Chr9:139400020 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1441+12G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001902852] |
Chr9:136517740 [GRCh38]
Chr9:139412192 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6270G>A (p.Thr2090=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001902869] |
Chr9:136497469 [GRCh38]
Chr9:139391921 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2719G>A (p.Asp907Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001943595]|not provided [RCV003434355] |
Chr9:136510674 [GRCh38]
Chr9:139405126 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1543G>A (p.Glu515Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001905258] |
Chr9:136517284 [GRCh38]
Chr9:139411736 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3733G>A (p.Val1245Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001938578] |
Chr9:136506884 [GRCh38]
Chr9:139401336 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2903C>T (p.Thr968Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001989476]|Familial thoracic aortic aneurysm and aortic dissection [RCV003348731]|NOTCH1-related condition [RCV003402028] |
Chr9:136509799 [GRCh38]
Chr9:139404251 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.520A>C (p.Thr174Pro) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001976359] |
Chr9:136523072 [GRCh38]
Chr9:139417524 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2597G>C (p.Cys866Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001887279] |
Chr9:136510796 [GRCh38]
Chr9:139405248 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.866-3C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001897624] |
Chr9:136518827 [GRCh38]
Chr9:139413279 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3408C>G (p.Gly1136=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001934878] |
Chr9:136508057 [GRCh38]
Chr9:139402509 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5945G>A (p.Arg1982Gln) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001921123] |
Chr9:136499249 [GRCh38]
Chr9:139393701 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.7045C>G (p.Pro2349Ala) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001951687] |
Chr9:136496694 [GRCh38]
Chr9:139391146 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.7632G>C (p.Gln2544His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002048007] |
Chr9:136496107 [GRCh38]
Chr9:139390559 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4919C>T (p.Ala1640Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001879009] |
Chr9:136504772 [GRCh38]
Chr9:139399224 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5374G>A (p.Val1792Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001916622] |
Chr9:136502282 [GRCh38]
Chr9:139396734 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4624G>A (p.Asp1542Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001901959]|Inborn genetic diseases [RCV003355580] |
Chr9:136505067 [GRCh38]
Chr9:139399519 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6295G>A (p.Asp2099Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002014590] |
Chr9:136497444 [GRCh38]
Chr9:139391896 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4756C>T (p.Arg1586Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001979237] |
Chr9:136504935 [GRCh38]
Chr9:139399387 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5697C>A (p.Asn1899Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001991231] |
Chr9:136500789 [GRCh38]
Chr9:139395241 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.865+5G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001899412] |
Chr9:136519438 [GRCh38]
Chr9:139413890 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3514G>A (p.Val1172Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001931410] |
Chr9:136507434 [GRCh38]
Chr9:139401886 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5101G>A (p.Ala1701Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001867579] |
Chr9:136503248 [GRCh38]
Chr9:139397700 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2614G>A (p.Glu872Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001902197]|not provided [RCV003434336] |
Chr9:136510779 [GRCh38]
Chr9:139405231 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7138G>C (p.Val2380Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001866527] |
Chr9:136496601 [GRCh38]
Chr9:139391053 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7510G>A (p.Val2504Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002028824] |
Chr9:136496229 [GRCh38]
Chr9:139390681 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2015-2del |
deletion |
Adams-Oliver syndrome 5 [RCV001975775] |
Chr9:136514704 [GRCh38]
Chr9:139409156 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.2185G>A (p.Ala729Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001899856] |
Chr9:136514532 [GRCh38]
Chr9:139408984 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6260G>A (p.Arg2087Gln) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001920938]|Aortic valve disease 1 [RCV002491881]|Familial thoracic aortic aneurysm and aortic dissection [RCV002359415]|not provided [RCV003442959] |
Chr9:136497479 [GRCh38]
Chr9:139391931 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4564C>G (p.Gln1522Glu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001956681] |
Chr9:136505332 [GRCh38]
Chr9:139399784 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2935C>T (p.His979Tyr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002011067] |
Chr9:136509767 [GRCh38]
Chr9:139404219 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6787C>T (p.Arg2263Trp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001936068] |
Chr9:136496952 [GRCh38]
Chr9:139391404 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.7273G>A (p.Ala2425Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001918495] |
Chr9:136496466 [GRCh38]
Chr9:139390918 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.352G>A (p.Asp118Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001930593]|Familial thoracic aortic aneurysm and aortic dissection [RCV002458788] |
Chr9:136523768 [GRCh38]
Chr9:139418220 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2086G>A (p.Gly696Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001972339] |
Chr9:136514631 [GRCh38]
Chr9:139409083 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6082+6C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002013984] |
Chr9:136499106 [GRCh38]
Chr9:139393558 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1951G>A (p.Asp651Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001903526] |
Chr9:136515353 [GRCh38]
Chr9:139409805 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3503C>T (p.Ser1168Phe) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001934787]|not provided [RCV003442927] |
Chr9:136507962 [GRCh38]
Chr9:139402414 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4235A>G (p.Tyr1412Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002031905] |
Chr9:136505661 [GRCh38]
Chr9:139400113 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4264G>A (p.Gly1422Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001902935] |
Chr9:136505632 [GRCh38]
Chr9:139400084 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6542A>G (p.Lys2181Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001933332]|not provided [RCV003481186] |
Chr9:136497197 [GRCh38]
Chr9:139391649 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2717C>T (p.Thr906Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001917622] |
Chr9:136510676 [GRCh38]
Chr9:139405128 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6257A>G (p.Asn2086Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002012891] |
Chr9:136497482 [GRCh38]
Chr9:139391934 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2416T>A (p.Cys806Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001956629] |
Chr9:136513072 [GRCh38]
Chr9:139407524 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4543C>T (p.Leu1515Phe) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001957598]|not specified [RCV003331237] |
Chr9:136505353 [GRCh38]
Chr9:139399805 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4045G>A (p.Ala1349Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002034197] |
Chr9:136505851 [GRCh38]
Chr9:139400303 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2428G>C (p.Val810Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001884427] |
Chr9:136513060 [GRCh38]
Chr9:139407512 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7188C>G (p.Asn2396Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001919183]|Familial thoracic aortic aneurysm and aortic dissection [RCV003167155] |
Chr9:136496551 [GRCh38]
Chr9:139391003 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6869G>A (p.Ser2290Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001877584] |
Chr9:136496870 [GRCh38]
Chr9:139391322 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1039G>A (p.Gly347Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001998843] |
Chr9:136518651 [GRCh38]
Chr9:139413103 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.7430C>T (p.Thr2477Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001867424]|Familial thoracic aortic aneurysm and aortic dissection [RCV002386630] |
Chr9:136496309 [GRCh38]
Chr9:139390761 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2405A>G (p.Asn802Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002029723] |
Chr9:136513083 [GRCh38]
Chr9:139407535 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7315A>C (p.Ser2439Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001961050] |
Chr9:136496424 [GRCh38]
Chr9:139390876 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4304G>C (p.Gly1435Ala) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001954781] |
Chr9:136505592 [GRCh38]
Chr9:139400044 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.763_773del (p.Glu255fs) |
deletion |
Adams-Oliver syndrome 5 [RCV001960502] |
Chr9:136519535..136519545 [GRCh38]
Chr9:139413987..139413997 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.4412C>G (p.Ala1471Gly) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001879269] |
Chr9:136505484 [GRCh38]
Chr9:139399936 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3286G>A (p.Val1096Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001978948]|Familial thoracic aortic aneurysm and aortic dissection [RCV002442917]|not provided [RCV003154225] |
Chr9:136508271 [GRCh38]
Chr9:139402723 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1904-3C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001925329] |
Chr9:136515403 [GRCh38]
Chr9:139409855 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6595C>T (p.Pro2199Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002029950] |
Chr9:136497144 [GRCh38]
Chr9:139391596 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7402C>A (p.Leu2468Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001975812] |
Chr9:136496337 [GRCh38]
Chr9:139390789 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2605G>A (p.Asp869Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001940500]|Aortic valve disease 1 [RCV002271309]|not provided [RCV002223326] |
Chr9:136510788 [GRCh38]
Chr9:139405240 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2261A>G (p.Asn754Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001936454]|not specified [RCV003323956] |
Chr9:136513484 [GRCh38]
Chr9:139407936 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2741-6T>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002015708] |
Chr9:136509967 [GRCh38]
Chr9:139404419 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NC_000009.11:g.(?_139390523)_(139438574_?)dup |
duplication |
Adams-Oliver syndrome 5 [RCV002026275] |
Chr9:139390523..139438574 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4180G>A (p.Gly1394Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001952454] |
Chr9:136505716 [GRCh38]
Chr9:139400168 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5073G>C (p.Gln1691His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001930478] |
Chr9:136503276 [GRCh38]
Chr9:139397728 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1487G>C (p.Ser496Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001930480] |
Chr9:136517340 [GRCh38]
Chr9:139411792 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4213C>T (p.Pro1405Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001957209] |
Chr9:136505683 [GRCh38]
Chr9:139400135 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2452C>G (p.Leu818Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001953931] |
Chr9:136513036 [GRCh38]
Chr9:139407488 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5594G>A (p.Gly1865Asp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001926102]|Inborn genetic diseases [RCV002558447] |
Chr9:136501792 [GRCh38]
Chr9:139396244 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.742+20G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001989328] |
Chr9:136522830 [GRCh38]
Chr9:139417282 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4709C>T (p.Ala1570Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001900160] |
Chr9:136504982 [GRCh38]
Chr9:139399434 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NC_000009.11:g.(?_139404165)_(139405277_?)del |
deletion |
Adams-Oliver syndrome 5 [RCV001972419] |
Chr9:139404165..139405277 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.2079C>T (p.Cys693=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002028011] |
Chr9:136514638 [GRCh38]
Chr9:139409090 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2012C>A (p.Thr671Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001897702] |
Chr9:136515292 [GRCh38]
Chr9:139409744 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5332G>C (p.Ala1778Pro) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001923898] |
Chr9:136502324 [GRCh38]
Chr9:139396776 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3326G>C (p.Gly1109Ala) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001905011] |
Chr9:136508139 [GRCh38]
Chr9:139402591 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2510C>G (p.Pro837Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002014908]|Aortic valve disease 1 [RCV002271313]|Familial thoracic aortic aneurysm and aortic dissection [RCV002441139]|not provided [RCV002224129] |
Chr9:136511229 [GRCh38]
Chr9:139405681 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2464A>G (p.Thr822Ala) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002017724] |
Chr9:136513024 [GRCh38]
Chr9:139407476 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6269C>T (p.Thr2090Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001884458] |
Chr9:136497470 [GRCh38]
Chr9:139391922 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1861C>G (p.Arg621Gly) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001924029] |
Chr9:136515525 [GRCh38]
Chr9:139409977 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4058G>A (p.Gly1353Asp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001938711]|Aortic valve disease 1 [RCV002507602] |
Chr9:136505838 [GRCh38]
Chr9:139400290 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5734G>A (p.Asp1912Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001998474]|Familial thoracic aortic aneurysm and aortic dissection [RCV002344155] |
Chr9:136500752 [GRCh38]
Chr9:139395204 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6119A>G (p.Asn2040Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002019244] |
Chr9:136498960 [GRCh38]
Chr9:139393412 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3110A>C (p.Gln1037Pro) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001925708] |
Chr9:136508931 [GRCh38]
Chr9:139403383 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3988C>T (p.Arg1330Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001938810]|Aortic valve disease 1 [RCV002503645] |
Chr9:136506553 [GRCh38]
Chr9:139401005 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.752G>T (p.Gly251Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001999179] |
Chr9:136519556 [GRCh38]
Chr9:139414008 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3902-6C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002035978] |
Chr9:136506645 [GRCh38]
Chr9:139401097 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5485G>A (p.Val1829Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001923661] |
Chr9:136501901 [GRCh38]
Chr9:139396353 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2311A>G (p.Met771Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001905618] |
Chr9:136513434 [GRCh38]
Chr9:139407886 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6747G>A (p.Val2249=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001884716] |
Chr9:136496992 [GRCh38]
Chr9:139391444 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6868A>G (p.Ser2290Gly) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001886178] |
Chr9:136496871 [GRCh38]
Chr9:139391323 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2689G>A (p.Ala897Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001981306] |
Chr9:136510704 [GRCh38]
Chr9:139405156 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1100-17C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001940568] |
Chr9:136518309 [GRCh38]
Chr9:139412761 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4149C>T (p.Cys1383=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001952019] |
Chr9:136505747 [GRCh38]
Chr9:139400199 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4961C>A (p.Pro1654His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001990898] |
Chr9:136504730 [GRCh38]
Chr9:139399182 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6910T>G (p.Leu2304Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001976411] |
Chr9:136496829 [GRCh38]
Chr9:139391281 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6889A>G (p.Thr2297Ala) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002029040] |
Chr9:136496850 [GRCh38]
Chr9:139391302 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1861C>T (p.Arg621Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001879195] |
Chr9:136515525 [GRCh38]
Chr9:139409977 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1462G>A (p.Glu488Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002030679] |
Chr9:136517365 [GRCh38]
Chr9:139411817 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5678G>T (p.Gly1893Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001956797] |
Chr9:136500808 [GRCh38]
Chr9:139395260 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4014+9A>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001956821] |
Chr9:136506518 [GRCh38]
Chr9:139400970 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3991G>A (p.Gly1331Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002028158]|Aortic valve disease 1 [RCV002271314]|Familial thoracic aortic aneurysm and aortic dissection [RCV002352704]|not provided [RCV002224131] |
Chr9:136506550 [GRCh38]
Chr9:139401002 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.6213G>A (p.Glu2071=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001918722] |
Chr9:136497526 [GRCh38]
Chr9:139391978 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2509C>T (p.Pro837Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002016565] |
Chr9:136511230 [GRCh38]
Chr9:139405682 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.781T>C (p.Cys261Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001875560] |
Chr9:136519527 [GRCh38]
Chr9:139413979 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.526C>T (p.Arg176Trp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001897500]|Familial thoracic aortic aneurysm and aortic dissection [RCV002343963] |
Chr9:136523066 [GRCh38]
Chr9:139417518 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4900G>A (p.Ala1634Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001995015] |
Chr9:136504791 [GRCh38]
Chr9:139399243 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1987G>A (p.Glu663Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001866435]|Familial thoracic aortic aneurysm and aortic dissection [RCV002422903] |
Chr9:136515317 [GRCh38]
Chr9:139409769 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NC_000009.11:g.(?_139438456)_(139440238_?)dup |
duplication |
Adams-Oliver syndrome 5 [RCV001923059] |
Chr9:139438456..139440238 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6665C>T (p.Pro2222Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV001952344] |
Chr9:136497074 [GRCh38]
Chr9:139391526 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2783C>T (p.Thr928Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002048299]|Aortic valve disease 1 [RCV002498052]|Familial thoracic aortic aneurysm and aortic dissection [RCV002441217]|not provided [RCV003130678] |
Chr9:136509919 [GRCh38]
Chr9:139404371 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2922C>T (p.Gly974=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002192125] |
Chr9:136509780 [GRCh38]
Chr9:139404232 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3643+13G>C |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002111656] |
Chr9:136507292 [GRCh38]
Chr9:139401744 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3033C>T (p.Pro1011=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002188751] |
Chr9:136509008 [GRCh38]
Chr9:139403460 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4497C>T (p.Tyr1499=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002185721] |
Chr9:136505399 [GRCh38]
Chr9:139399851 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2448C>T (p.Asn816=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002108810] |
Chr9:136513040 [GRCh38]
Chr9:139407492 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1971C>T (p.Asp657=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002190315] |
Chr9:136515333 [GRCh38]
Chr9:139409785 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.723C>T (p.His241=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002126773]|Familial thoracic aortic aneurysm and aortic dissection [RCV003161511] |
Chr9:136522869 [GRCh38]
Chr9:139417321 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2468-20C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002110134] |
Chr9:136511291 [GRCh38]
Chr9:139405743 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4014+8C>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002186520]|not specified [RCV003331329] |
Chr9:136506519 [GRCh38]
Chr9:139400971 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5384+11G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003093872]|not provided [RCV002224166] |
Chr9:136502261 [GRCh38]
Chr9:139396713 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5168-16G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002108638] |
Chr9:136502504 [GRCh38]
Chr9:139396956 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1556-4C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002208868] |
Chr9:136516098 [GRCh38]
Chr9:139410550 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.390G>T (p.Pro130=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002090488] |
Chr9:136523730 [GRCh38]
Chr9:139418182 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6981G>T (p.Arg2327=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002208938] |
Chr9:136496758 [GRCh38]
Chr9:139391210 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.742+12C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002090804] |
Chr9:136522838 [GRCh38]
Chr9:139417290 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3564C>T (p.Leu1188=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002072818] |
Chr9:136507384 [GRCh38]
Chr9:139401836 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1669+15C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002111230]|not specified [RCV003479401] |
Chr9:136515966 [GRCh38]
Chr9:139410418 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.5266C>T (p.Leu1756=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002111040]|not provided [RCV003434406] |
Chr9:136502390 [GRCh38]
Chr9:139396842 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1830G>A (p.Gln610=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002189549] |
Chr9:136515556 [GRCh38]
Chr9:139410008 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4080C>T (p.Gly1360=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002111713]|Familial thoracic aortic aneurysm and aortic dissection [RCV002325620] |
Chr9:136505816 [GRCh38]
Chr9:139400268 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3285C>T (p.Asp1095=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002091867] |
Chr9:136508272 [GRCh38]
Chr9:139402724 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5385-13C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002075020] |
Chr9:136502101 [GRCh38]
Chr9:139396553 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.61+11A>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002112635] |
Chr9:136545715 [GRCh38]
Chr9:139440167 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6082+19G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002165945] |
Chr9:136499093 [GRCh38]
Chr9:139393545 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5619C>T (p.Asp1873=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002210018] |
Chr9:136501767 [GRCh38]
Chr9:139396219 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2529G>A (p.Glu843=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002146152] |
Chr9:136511210 [GRCh38]
Chr9:139405662 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4587-11G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002075749] |
Chr9:136505115 [GRCh38]
Chr9:139399567 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7398G>A (p.Thr2466=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002148329]|Familial thoracic aortic aneurysm and aortic dissection [RCV002382432] |
Chr9:136496341 [GRCh38]
Chr9:139390793 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5018+12C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002192045] |
Chr9:136504661 [GRCh38]
Chr9:139399113 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1677G>A (p.Thr559=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002075613] |
Chr9:136515709 [GRCh38]
Chr9:139410161 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1555+15C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002147215] |
Chr9:136517257 [GRCh38]
Chr9:139411709 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1441+13G>C |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002148383] |
Chr9:136517739 [GRCh38]
Chr9:139412191 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2741-18C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002107571] |
Chr9:136509979 [GRCh38]
Chr9:139404431 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5167+19C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002190604] |
Chr9:136503163 [GRCh38]
Chr9:139397615 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.743-12del |
deletion |
Adams-Oliver syndrome 5 [RCV002185657] |
Chr9:136519577 [GRCh38]
Chr9:139414029 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.4959C>G (p.Leu1653=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002186534] |
Chr9:136504732 [GRCh38]
Chr9:139399184 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1556-15C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002148973] |
Chr9:136516109 [GRCh38]
Chr9:139410561 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.617G>A (p.Cys206Tyr) |
single nucleotide variant |
not provided [RCV002224402] |
Chr9:136522975 [GRCh38]
Chr9:139417427 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.363G>A (p.Thr121=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002145649]|NOTCH1-related condition [RCV003933597] |
Chr9:136523757 [GRCh38]
Chr9:139418209 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4834G>A (p.Gly1612Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748368]|not provided [RCV002223468] |
Chr9:136504857 [GRCh38]
Chr9:139399309 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5991G>A (p.Thr1997=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002106087] |
Chr9:136499203 [GRCh38]
Chr9:139393655 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5652G>A (p.Pro1884=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002145851]|Familial thoracic aortic aneurysm and aortic dissection [RCV002346511] |
Chr9:136500834 [GRCh38]
Chr9:139395286 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.657C>T (p.Tyr219=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002189620]|Familial thoracic aortic aneurysm and aortic dissection [RCV003303718] |
Chr9:136522935 [GRCh38]
Chr9:139417387 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3585G>A (p.Gly1195=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002209992] |
Chr9:136507363 [GRCh38]
Chr9:139401815 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2970-7del |
deletion |
Adams-Oliver syndrome 5 [RCV002129698] |
Chr9:136509078 [GRCh38]
Chr9:139403530 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.1758C>A (p.Thr586=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002206831] |
Chr9:136515628 [GRCh38]
Chr9:139410080 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1100-13G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002189903] |
Chr9:136518305 [GRCh38]
Chr9:139412757 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5472+13G>C |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002106805] |
Chr9:136501988 [GRCh38]
Chr9:139396440 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.822C>T (p.Asp274=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002104772] |
Chr9:136519486 [GRCh38]
Chr9:139413938 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3511-1G>A |
single nucleotide variant |
not provided [RCV002224738] |
Chr9:136507438 [GRCh38]
Chr9:139401890 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.5385-10C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002127881] |
Chr9:136502098 [GRCh38]
Chr9:139396550 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1284G>A (p.Lys428=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003774676]|not provided [RCV002226168] |
Chr9:136517909 [GRCh38]
Chr9:139412361 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.2415G>C (p.Thr805=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002169872]|NOTCH1-related condition [RCV003984171] |
Chr9:136513073 [GRCh38]
Chr9:139407525 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3549G>A (p.Glu1183=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002105756] |
Chr9:136507399 [GRCh38]
Chr9:139401851 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.865+19G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002104991] |
Chr9:136519424 [GRCh38]
Chr9:139413876 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.219A>G (p.Thr73=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002107447] |
Chr9:136523901 [GRCh38]
Chr9:139418353 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2883G>T (p.Thr961=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002187521] |
Chr9:136509819 [GRCh38]
Chr9:139404271 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.774C>T (p.Ile258=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002073528]|NOTCH1-related condition [RCV003978596] |
Chr9:136519534 [GRCh38]
Chr9:139413986 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1556-20C>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002191063] |
Chr9:136516114 [GRCh38]
Chr9:139410566 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3282C>T (p.Cys1094=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002117454]|Familial thoracic aortic aneurysm and aortic dissection [RCV003355808] |
Chr9:136508275 [GRCh38]
Chr9:139402727 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1266C>A (p.Pro422=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002079501]|Aortic valve disease 1 [RCV002480979] |
Chr9:136517927 [GRCh38]
Chr9:139412379 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7575G>A (p.Pro2525=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002214713]|Familial thoracic aortic aneurysm and aortic dissection [RCV002391196] |
Chr9:136496164 [GRCh38]
Chr9:139390616 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.429G>T (p.Pro143=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002172461] |
Chr9:136523163 [GRCh38]
Chr9:139417615 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3387C>T (p.His1129=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002174790] |
Chr9:136508078 [GRCh38]
Chr9:139402530 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2475G>A (p.Thr825=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002080937]|Familial thoracic aortic aneurysm and aortic dissection [RCV003303753] |
Chr9:136511264 [GRCh38]
Chr9:139405716 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.140+17C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002080248] |
Chr9:136544007 [GRCh38]
Chr9:139438459 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.1555+17C>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002167403] |
Chr9:136517255 [GRCh38]
Chr9:139411707 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2175C>T (p.Cys725=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002080546]|Aortic valve disease 1 [RCV002271317]|Familial thoracic aortic aneurysm and aortic dissection [RCV003485762]|not provided [RCV002080547] |
Chr9:136514542 [GRCh38]
Chr9:139408994 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.4024G>T (p.Gly1342Cys) |
single nucleotide variant |
not provided [RCV002223584] |
Chr9:136505872 [GRCh38]
Chr9:139400324 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2823C>T (p.Phe941=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002149920]|Familial thoracic aortic aneurysm and aortic dissection [RCV002434523] |
Chr9:136509879 [GRCh38]
Chr9:139404331 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5385-17G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002075257] |
Chr9:136502105 [GRCh38]
Chr9:139396557 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1904-10A>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002116131] |
Chr9:136515410 [GRCh38]
Chr9:139409862 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.3312T>A (p.Ala1104=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002093530] |
Chr9:136508245 [GRCh38]
Chr9:139402697 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.403+17A>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002135213] |
Chr9:136523700 [GRCh38]
Chr9:139418152 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7569G>C (p.Ser2523=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002085052] |
Chr9:136496170 [GRCh38]
Chr9:139390622 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.62-14C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002094281] |
Chr9:136544116 [GRCh38]
Chr9:139438568 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2587+19C>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002078804] |
Chr9:136511133 [GRCh38]
Chr9:139405585 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.6645G>A (p.Ser2215=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002213876]|Familial thoracic aortic aneurysm and aortic dissection [RCV002363720]|NOTCH1-related condition [RCV003951339] |
Chr9:136497094 [GRCh38]
Chr9:139391546 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4287C>T (p.Asp1429=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003093854]|Familial thoracic aortic aneurysm and aortic dissection [RCV003164308]|not provided [RCV002214501] |
Chr9:136505609 [GRCh38]
Chr9:139400061 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.453C>T (p.Asn151=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002117097]|Familial thoracic aortic aneurysm and aortic dissection [RCV003382840]|not specified [RCV003491038] |
Chr9:136523139 [GRCh38]
Chr9:139417591 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.2588-20G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002117354] |
Chr9:136510825 [GRCh38]
Chr9:139405277 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5167+19C>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002149747] |
Chr9:136503163 [GRCh38]
Chr9:139397615 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4362C>T (p.Cys1454=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002174059] |
Chr9:136505534 [GRCh38]
Chr9:139399986 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1099+16C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002214608] |
Chr9:136518575 [GRCh38]
Chr9:139413027 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5168-11C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002152302] |
Chr9:136502499 [GRCh38]
Chr9:139396951 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2970-15C>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002134273] |
Chr9:136509086 [GRCh38]
Chr9:139403538 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7104G>A (p.Leu2368=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002187941] |
Chr9:136496635 [GRCh38]
Chr9:139391087 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4158G>A (p.Pro1386=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002108906]|Familial thoracic aortic aneurysm and aortic dissection [RCV003307995] |
Chr9:136505738 [GRCh38]
Chr9:139400190 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1904-4T>C |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002097214] |
Chr9:136515404 [GRCh38]
Chr9:139409856 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.61+19G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002174734] |
Chr9:136545707 [GRCh38]
Chr9:139440159 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.4128C>T (p.Gly1376=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002115140]|Familial thoracic aortic aneurysm and aortic dissection [RCV003161504] |
Chr9:136505768 [GRCh38]
Chr9:139400220 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4953G>A (p.Ser1651=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002133692] |
Chr9:136504738 [GRCh38]
Chr9:139399190 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3171+1_5935-1del |
deletion |
Aortic valve disease 1 [RCV002071035] |
Chr9:136499260..136508869 [GRCh38]
Chr9:139393712..139403321 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.924C>T (p.Asn308=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002088141] |
Chr9:136518766 [GRCh38]
Chr9:139413218 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5473-10C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002147830] |
Chr9:136501923 [GRCh38]
Chr9:139396375 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1386G>A (p.Gln462=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002079537] |
Chr9:136517807 [GRCh38]
Chr9:139412259 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6969C>T (p.Tyr2323=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002113908]|Familial thoracic aortic aneurysm and aortic dissection [RCV002372977] |
Chr9:136496770 [GRCh38]
Chr9:139391222 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1904-13G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002105386] |
Chr9:136515413 [GRCh38]
Chr9:139409865 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2354-8C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002114627] |
Chr9:136513142 [GRCh38]
Chr9:139407594 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3291C>T (p.Pro1097=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002196706] |
Chr9:136508266 [GRCh38]
Chr9:139402718 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1099+8C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002105945] |
Chr9:136518583 [GRCh38]
Chr9:139413035 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2970-20G>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002208627] |
Chr9:136509091 [GRCh38]
Chr9:139403543 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7617T>G (p.Pro2539=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002146888]|Familial thoracic aortic aneurysm and aortic dissection [RCV002391266] |
Chr9:136496122 [GRCh38]
Chr9:139390574 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6234G>A (p.Lys2078=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002111758] |
Chr9:136497505 [GRCh38]
Chr9:139391957 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7284C>T (p.His2428=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002131088]|Familial thoracic aortic aneurysm and aortic dissection [RCV002382425] |
Chr9:136496455 [GRCh38]
Chr9:139390907 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5472+8G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002113048] |
Chr9:136501993 [GRCh38]
Chr9:139396445 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1527C>T (p.Ile509=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002079704] |
Chr9:136517300 [GRCh38]
Chr9:139411752 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.675G>A (p.Ser225=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002096312] |
Chr9:136522917 [GRCh38]
Chr9:139417369 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6903C>T (p.Ser2301=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002215649] |
Chr9:136496836 [GRCh38]
Chr9:139391288 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4212G>A (p.Glu1404=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002112033] |
Chr9:136505684 [GRCh38]
Chr9:139400136 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5385-9A>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002214987] |
Chr9:136502097 [GRCh38]
Chr9:139396549 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5406C>T (p.Asp1802=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002132802] |
Chr9:136502067 [GRCh38]
Chr9:139396519 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5639-17C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002173426] |
Chr9:136500864 [GRCh38]
Chr9:139395316 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5091C>T (p.Thr1697=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002172771]|Familial thoracic aortic aneurysm and aortic dissection [RCV002337194]|not specified [RCV003323977] |
Chr9:136503258 [GRCh38]
Chr9:139397710 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.2741-13C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002095865] |
Chr9:136509974 [GRCh38]
Chr9:139404426 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1100-16G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002173460] |
Chr9:136518308 [GRCh38]
Chr9:139412760 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2588-15C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002097147] |
Chr9:136510820 [GRCh38]
Chr9:139405272 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2008T>G (p.Tyr670Asp) |
single nucleotide variant |
not provided [RCV002224499] |
Chr9:136515296 [GRCh38]
Chr9:139409748 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5484C>T (p.Pro1828=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002145816]|not provided [RCV003426354] |
Chr9:136501902 [GRCh38]
Chr9:139396354 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3326-15C>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002192666] |
Chr9:136508154 [GRCh38]
Chr9:139402606 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1362C>T (p.Asn454=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002172140]|Familial thoracic aortic aneurysm and aortic dissection [RCV002382269] |
Chr9:136517831 [GRCh38]
Chr9:139412283 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5751C>A (p.Gly1917=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002157508]|NOTCH1-related condition [RCV003893121] |
Chr9:136500735 [GRCh38]
Chr9:139395187 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.62-16T>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002083033] |
Chr9:136544118 [GRCh38]
Chr9:139438570 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7230G>T (p.Pro2410=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002197657]|Familial thoracic aortic aneurysm and aortic dissection [RCV003161395] |
Chr9:136496509 [GRCh38]
Chr9:139390961 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5472+18C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002103811] |
Chr9:136501983 [GRCh38]
Chr9:139396435 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2613C>T (p.Asn871=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002178970]|Familial thoracic aortic aneurysm and aortic dissection [RCV003308035] |
Chr9:136510780 [GRCh38]
Chr9:139405232 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4308C>T (p.Ala1436=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002216707]|Familial thoracic aortic aneurysm and aortic dissection [RCV002331703]|not provided [RCV003434398] |
Chr9:136505588 [GRCh38]
Chr9:139400040 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6180+13C>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002154272] |
Chr9:136498886 [GRCh38]
Chr9:139393338 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6117C>T (p.Asn2039=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002202017] |
Chr9:136498962 [GRCh38]
Chr9:139393414 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4425C>T (p.Asp1475=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002098356] |
Chr9:136505471 [GRCh38]
Chr9:139399923 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1376A>G (p.Asn459Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002118063] |
Chr9:136517817 [GRCh38]
Chr9:139412269 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.2468-4G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002220950] |
Chr9:136511275 [GRCh38]
Chr9:139405727 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.792C>T (p.Asn264=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002158558] |
Chr9:136519516 [GRCh38]
Chr9:139413968 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.45C>G (p.Pro15=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002118698] |
Chr9:136545742 [GRCh38]
Chr9:139440194 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1441+11C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002142035]|not specified [RCV003331303] |
Chr9:136517741 [GRCh38]
Chr9:139412193 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.5018+20C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002120938]|not specified [RCV003323994] |
Chr9:136504653 [GRCh38]
Chr9:139399105 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.45C>T (p.Pro15=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002157499] |
Chr9:136545742 [GRCh38]
Chr9:139440194 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5154C>T (p.Ile1718=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002216441] |
Chr9:136503195 [GRCh38]
Chr9:139397647 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.901C>T (p.Leu301=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002083203] |
Chr9:136518789 [GRCh38]
Chr9:139413241 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1296G>T (p.Thr432=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002139136] |
Chr9:136517897 [GRCh38]
Chr9:139412349 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3300C>G (p.Ser1100=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002181045] |
Chr9:136508257 [GRCh38]
Chr9:139402709 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3504C>T (p.Ser1168=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002175347]|Familial thoracic aortic aneurysm and aortic dissection [RCV002454367] |
Chr9:136507961 [GRCh38]
Chr9:139402413 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1556-19C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002203975] |
Chr9:136516113 [GRCh38]
Chr9:139410565 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4587-4A>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002156369] |
Chr9:136505108 [GRCh38]
Chr9:139399560 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3325+18C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002216912] |
Chr9:136508214 [GRCh38]
Chr9:139402666 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1903+14C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002136005] |
Chr9:136515469 [GRCh38]
Chr9:139409921 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2115C>T (p.Pro705=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002200385]|NOTCH1-related condition [RCV003893178] |
Chr9:136514602 [GRCh38]
Chr9:139409054 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4921C>T (p.Pro1641Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002162107]|NOTCH1-related condition [RCV003968724] |
Chr9:136504770 [GRCh38]
Chr9:139399222 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.3511-18G>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002156651] |
Chr9:136507455 [GRCh38]
Chr9:139401907 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1125A>C (p.Ala375=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002176146] |
Chr9:136518267 [GRCh38]
Chr9:139412719 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.62-9C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002162349] |
Chr9:136544111 [GRCh38]
Chr9:139438563 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.360C>T (p.Leu120=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002142119] |
Chr9:136523760 [GRCh38]
Chr9:139418212 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5019-20CT[2] |
microsatellite |
Adams-Oliver syndrome 5 [RCV002084471] |
Chr9:136503345..136503346 [GRCh38]
Chr9:139397797..139397798 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2334C>T (p.Thr778=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002199182] |
Chr9:136513411 [GRCh38]
Chr9:139407863 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3901+12G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002136861] |
Chr9:136506704 [GRCh38]
Chr9:139401156 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.2919A>G (p.Ala973=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002082930]|Familial thoracic aortic aneurysm and aortic dissection [RCV003161333] |
Chr9:136509783 [GRCh38]
Chr9:139404235 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6819C>T (p.Leu2273=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002101596]|Familial thoracic aortic aneurysm and aortic dissection [RCV002363643] |
Chr9:136496920 [GRCh38]
Chr9:139391372 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3325+11G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002081295] |
Chr9:136508221 [GRCh38]
Chr9:139402673 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1100-4C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002161166] |
Chr9:136518296 [GRCh38]
Chr9:139412748 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5935-11C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002121689]|not provided [RCV003738152] |
Chr9:136499270 [GRCh38]
Chr9:139393722 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.7158G>A (p.Gln2386=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002180903]|Familial thoracic aortic aneurysm and aortic dissection [RCV002363629] |
Chr9:136496581 [GRCh38]
Chr9:139391033 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2757G>A (p.Gly919=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002083691] |
Chr9:136509945 [GRCh38]
Chr9:139404397 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4794C>G (p.Arg1598=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002119895]|not provided [RCV003434419] |
Chr9:136504897 [GRCh38]
Chr9:139399349 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3326-8C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002201888] |
Chr9:136508147 [GRCh38]
Chr9:139402599 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1161C>T (p.Cys387=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002135989]|Familial thoracic aortic aneurysm and aortic dissection [RCV002325679] |
Chr9:136518231 [GRCh38]
Chr9:139412683 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7461G>A (p.Gln2487=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002154601] |
Chr9:136496278 [GRCh38]
Chr9:139390730 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.225C>T (p.His75=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002179724]|Familial thoracic aortic aneurysm and aortic dissection [RCV002443101] |
Chr9:136523895 [GRCh38]
Chr9:139418347 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3644-18C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002099060] |
Chr9:136506991 [GRCh38]
Chr9:139401443 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1099+20G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002181562] |
Chr9:136518571 [GRCh38]
Chr9:139413023 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3326-5C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002120907] |
Chr9:136508144 [GRCh38]
Chr9:139402596 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1555+17C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002218177] |
Chr9:136517255 [GRCh38]
Chr9:139411707 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.948C>T (p.His316=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002155912]|Familial thoracic aortic aneurysm and aortic dissection [RCV003308023] |
Chr9:136518742 [GRCh38]
Chr9:139413194 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5004C>T (p.Pro1668=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002119462] |
Chr9:136504687 [GRCh38]
Chr9:139399139 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6G>A (p.Pro2=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002140627] |
Chr9:136545781 [GRCh38]
Chr9:139440233 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1555+18C>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002201729] |
Chr9:136517254 [GRCh38]
Chr9:139411706 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4098C>G (p.Gly1366=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002203225] |
Chr9:136505798 [GRCh38]
Chr9:139400250 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3129C>T (p.Tyr1043=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002198066] |
Chr9:136508912 [GRCh38]
Chr9:139403364 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3693C>T (p.Pro1231=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002219113]|Familial thoracic aortic aneurysm and aortic dissection [RCV003161430] |
Chr9:136506924 [GRCh38]
Chr9:139401376 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6156T>A (p.Ala2052=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002219060]|Familial thoracic aortic aneurysm and aortic dissection [RCV002352817] |
Chr9:136498923 [GRCh38]
Chr9:139393375 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1669+12C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002100619] |
Chr9:136515969 [GRCh38]
Chr9:139410421 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.866-9T>C |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002122181] |
Chr9:136518833 [GRCh38]
Chr9:139413285 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2014+11C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002124056] |
Chr9:136515279 [GRCh38]
Chr9:139409731 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6996A>G (p.Pro2332=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002123900] |
Chr9:136496743 [GRCh38]
Chr9:139391195 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2015-13G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002219623] |
Chr9:136514715 [GRCh38]
Chr9:139409167 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4866C>G (p.Arg1622=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002142065] |
Chr9:136504825 [GRCh38]
Chr9:139399277 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7641C>A (p.Ile2547=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002121156]|not specified [RCV003323995] |
Chr9:136496098 [GRCh38]
Chr9:139390550 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3519C>T (p.Ala1173=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002122543]|Familial thoracic aortic aneurysm and aortic dissection [RCV002454462]|NOTCH1-related condition [RCV003895807] |
Chr9:136507429 [GRCh38]
Chr9:139401881 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2424C>T (p.Asp808=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003110415] |
Chr9:136513064 [GRCh38]
Chr9:139407516 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.1256-15G>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003110436] |
Chr9:136517952 [GRCh38]
Chr9:139412404 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NC_000009.11:g.(?_135139626)_(140034216_?)dup |
duplication |
Developmental and epileptic encephalopathy, 14 [RCV003111109]|Leigh syndrome [RCV003122287]|Rafiq syndrome [RCV003122286]|Tuberous sclerosis 1 [RCV003111108] |
Chr9:135139626..140034216 [GRCh37]
Chr9:9q34.13-34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4411G>T (p.Ala1471Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003110664] |
Chr9:136505485 [GRCh38]
Chr9:139399937 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NC_000009.11:g.(?_138392557)_(141016451_?)del |
deletion |
Adams-Oliver syndrome 5 [RCV003119767]|Developmental and epileptic encephalopathy, 14 [RCV003109684]|Familial aplasia of the vermis [RCV003119768] |
Chr9:138392557..141016451 [GRCh37]
Chr9:9q34.3 |
pathogenic|uncertain significance |
| NM_017617.5(NOTCH1):c.5479G>A (p.Glu1827Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003112587] |
Chr9:136501907 [GRCh38]
Chr9:139396359 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3511-18G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003117013] |
Chr9:136507455 [GRCh38]
Chr9:139401907 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.387C>T (p.Cys129=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003115453] |
Chr9:136523733 [GRCh38]
Chr9:139418185 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1385A>G (p.Gln462Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003112672] |
Chr9:136517808 [GRCh38]
Chr9:139412260 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7389C>T (p.Ala2463=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003116218] |
Chr9:136496350 [GRCh38]
Chr9:139390802 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4015-19T>C |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003117958] |
Chr9:136505900 [GRCh38]
Chr9:139400352 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.164C>T (p.Pro55Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003121238] |
Chr9:136523956 [GRCh38]
Chr9:139418408 [GRCh37]
Chr9:9q34.3 |
benign |
| NC_000009.11:g.(?_131087402)_(141016451_?)dup |
duplication |
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome [RCV003119700] |
Chr9:131087402..141016451 [GRCh37]
Chr9:9q34.11-34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2883G>A (p.Thr961=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003121582] |
Chr9:136509819 [GRCh38]
Chr9:139404271 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1528A>G (p.Asn510Asp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003121749] |
Chr9:136517299 [GRCh38]
Chr9:139411751 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NC_000009.11:g.(?_136218768)_(141016451_?)dup |
duplication |
Kleefstra syndrome 1 [RCV003122719] |
Chr9:136218768..141016451 [GRCh37]
Chr9:9q34.2-34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7506A>G (p.Leu2502=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749018] |
Chr9:136496233 [GRCh38]
Chr9:139390685 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5168-18del |
deletion |
Adams-Oliver syndrome 5 [RCV003749076] |
Chr9:136502506 [GRCh38]
Chr9:139396958 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6349A>T (p.Asn2117Tyr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749079] |
Chr9:136497390 [GRCh38]
Chr9:139391842 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1542C>G (p.Cys514Trp) |
single nucleotide variant |
Aortic valve disease 1 [RCV003147925] |
Chr9:136517285 [GRCh38]
Chr9:139411737 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6281A>G (p.Asp2094Gly) |
single nucleotide variant |
not provided [RCV003129472] |
Chr9:136497458 [GRCh38]
Chr9:139391910 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4248C>G (p.Cys1416Trp) |
single nucleotide variant |
not provided [RCV003149288] |
Chr9:136505648 [GRCh38]
Chr9:139400100 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1542C>A (p.Cys514Ter) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002246189] |
Chr9:136517285 [GRCh38]
Chr9:139411737 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.2479G>A (p.Glu827Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003101320]|Pulmonary arterial hypertension [RCV002285185]|not provided [RCV002244509] |
Chr9:136511260 [GRCh38]
Chr9:139405712 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3905G>T (p.Arg1302Leu) |
single nucleotide variant |
not specified [RCV002248051] |
Chr9:136506636 [GRCh38]
Chr9:139401088 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2848G>A (p.Ala950Thr) |
single nucleotide variant |
not provided [RCV003154477] |
Chr9:136509854 [GRCh38]
Chr9:139404306 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2705G>C (p.Arg902Pro) |
single nucleotide variant |
not provided [RCV002269758] |
Chr9:136510688 [GRCh38]
Chr9:139405140 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2114C>G (p.Pro705Arg) |
single nucleotide variant |
not provided [RCV002286985] |
Chr9:136514603 [GRCh38]
Chr9:139409055 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3223T>A (p.Trp1075Arg) |
single nucleotide variant |
not provided [RCV002278927] |
Chr9:136508334 [GRCh38]
Chr9:139402786 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.62-4C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748401]|Familial thoracic aortic aneurysm and aortic dissection [RCV002366662] |
Chr9:136544106 [GRCh38]
Chr9:139438558 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6944A>G (p.Gln2315Arg) |
single nucleotide variant |
not provided [RCV002275878] |
Chr9:136496795 [GRCh38]
Chr9:139391247 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6258C>T (p.Asn2086=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002366698] |
Chr9:136497481 [GRCh38]
Chr9:139391933 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7431C>G (p.Thr2477=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002385026] |
Chr9:136496308 [GRCh38]
Chr9:139390760 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3899C>T (p.Thr1300Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002366379] |
Chr9:136506718 [GRCh38]
Chr9:139401170 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4552_4560del (p.Gly1518_Asp1520del) |
deletion |
not provided [RCV002276467] |
Chr9:136505336..136505344 [GRCh38]
Chr9:139399788..139399796 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.6636C>A (p.Asp2212Glu) |
single nucleotide variant |
not provided [RCV002261887] |
Chr9:136497103 [GRCh38]
Chr9:139391555 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6241C>T (p.Leu2081=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002366623] |
Chr9:136497498 [GRCh38]
Chr9:139391950 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6249C>T (p.His2083=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002366649] |
Chr9:136497490 [GRCh38]
Chr9:139391942 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1116_1118delinsAC (p.Asn373fs) |
indel |
Adams-Oliver syndrome 5 [RCV002269812] |
Chr9:136518274..136518276 [GRCh38]
Chr9:139412726..139412728 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.4680C>G (p.Asp1560Glu) |
single nucleotide variant |
not provided [RCV002293897] |
Chr9:136505011 [GRCh38]
Chr9:139399463 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.866-8C>A |
single nucleotide variant |
not provided [RCV002263524] |
Chr9:136518832 [GRCh38]
Chr9:139413284 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.287C>T (p.Pro96Leu) |
single nucleotide variant |
not provided [RCV002285883] |
Chr9:136523833 [GRCh38]
Chr9:139418285 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4852C>T (p.Pro1618Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003308098]|not provided [RCV002286001] |
Chr9:136504839 [GRCh38]
Chr9:139399291 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6947G>A (p.Ser2316Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002296868] |
Chr9:136496792 [GRCh38]
Chr9:139391244 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2372A>G (p.Asn791Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002272786] |
Chr9:136513116 [GRCh38]
Chr9:139407568 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.36G>A (p.Ala12=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002348910] |
Chr9:136545751 [GRCh38]
Chr9:139440203 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1077C>G (p.Cys359Trp) |
single nucleotide variant |
not provided [RCV002288041] |
Chr9:136518613 [GRCh38]
Chr9:139413065 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3999C>G (p.Ile1333Met) |
single nucleotide variant |
Aortic valve disease 1 [RCV002289193] |
Chr9:136506542 [GRCh38]
Chr9:139400994 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3732C>G (p.Cys1244Trp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748382]|Familial thoracic aortic aneurysm and aortic dissection [RCV002349187] |
Chr9:136506885 [GRCh38]
Chr9:139401337 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6231C>G (p.Ala2077=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002366574] |
Chr9:136497508 [GRCh38]
Chr9:139391960 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3295G>A (p.Val1099Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003097833]|not provided [RCV002293710] |
Chr9:136508262 [GRCh38]
Chr9:139402714 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3635G>T (p.Gly1212Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002452385] |
Chr9:136507313 [GRCh38]
Chr9:139401765 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7433C>G (p.Ala2478Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002385036] |
Chr9:136496306 [GRCh38]
Chr9:139390758 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.551A>G (p.Gln184Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002351756] |
Chr9:136523041 [GRCh38]
Chr9:139417493 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3010T>G (p.Ser1004Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002435782] |
Chr9:136509031 [GRCh38]
Chr9:139403483 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5536C>A (p.Gln1846Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002351856] |
Chr9:136501850 [GRCh38]
Chr9:139396302 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6769G>T (p.Ala2257Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002369293] |
Chr9:136496970 [GRCh38]
Chr9:139391422 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.896G>A (p.Cys299Tyr) |
single nucleotide variant |
not provided [RCV002274709] |
Chr9:136518794 [GRCh38]
Chr9:139413246 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3870C>G (p.Asp1290Glu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748386]|Familial thoracic aortic aneurysm and aortic dissection [RCV002366264] |
Chr9:136506747 [GRCh38]
Chr9:139401199 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5441G>C (p.Gly1814Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002349609] |
Chr9:136502032 [GRCh38]
Chr9:139396484 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7137G>A (p.Leu2379=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002367478] |
Chr9:136496602 [GRCh38]
Chr9:139391054 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1325A>C (p.Gln442Pro) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002385766] |
Chr9:136517868 [GRCh38]
Chr9:139412320 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7149G>A (p.Gln2383=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002367514] |
Chr9:136496590 [GRCh38]
Chr9:139391042 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.805G>A (p.Gly269Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002409637]|not provided [RCV002293878] |
Chr9:136519503 [GRCh38]
Chr9:139413955 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.289C>T (p.Leu97Phe) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003102851]|Familial thoracic aortic aneurysm and aortic dissection [RCV002438017]|not provided [RCV003328704] |
Chr9:136523831 [GRCh38]
Chr9:139418283 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6684C>T (p.Ser2228=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003098330]|Familial thoracic aortic aneurysm and aortic dissection [RCV002367029] |
Chr9:136497055 [GRCh38]
Chr9:139391507 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6687G>A (p.Val2229=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002367042] |
Chr9:136497052 [GRCh38]
Chr9:139391504 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2659A>G (p.Thr887Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002453116] |
Chr9:136510734 [GRCh38]
Chr9:139405186 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2613C>G (p.Asn871Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586372]|Familial thoracic aortic aneurysm and aortic dissection [RCV002437190] |
Chr9:136510780 [GRCh38]
Chr9:139405232 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6691C>G (p.Leu2231Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002367078] |
Chr9:136497048 [GRCh38]
Chr9:139391500 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2902A>G (p.Thr968Ala) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003102860]|Familial thoracic aortic aneurysm and aortic dissection [RCV002438092] |
Chr9:136509800 [GRCh38]
Chr9:139404252 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5474T>C (p.Phe1825Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002349812] |
Chr9:136501912 [GRCh38]
Chr9:139396364 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6715G>A (p.Asp2239Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003098342]|Familial thoracic aortic aneurysm and aortic dissection [RCV002367226] |
Chr9:136497024 [GRCh38]
Chr9:139391476 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3549G>T (p.Glu1183Asp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003099564]|Familial thoracic aortic aneurysm and aortic dissection [RCV002454841] |
Chr9:136507399 [GRCh38]
Chr9:139401851 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.354C>T (p.Asp118=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586335]|Familial thoracic aortic aneurysm and aortic dissection [RCV002454851] |
Chr9:136523766 [GRCh38]
Chr9:139418218 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6771G>A (p.Ala2257=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003103329]|Familial thoracic aortic aneurysm and aortic dissection [RCV002369329] |
Chr9:136496968 [GRCh38]
Chr9:139391420 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.111T>C (p.Cys37=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002438100] |
Chr9:136544053 [GRCh38]
Chr9:139438505 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6288G>C (p.Leu2096=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002368715] |
Chr9:136497451 [GRCh38]
Chr9:139391903 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2697C>T (p.Tyr899=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002437371] |
Chr9:136510696 [GRCh38]
Chr9:139405148 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.580A>G (p.Thr194Ala) |
single nucleotide variant |
not provided [RCV002283195] |
Chr9:136523012 [GRCh38]
Chr9:139417464 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5475C>T (p.Phe1825=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003102735]|Familial thoracic aortic aneurysm and aortic dissection [RCV002349814] |
Chr9:136501911 [GRCh38]
Chr9:139396363 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4917C>G (p.Ala1639=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002351235] |
Chr9:136504774 [GRCh38]
Chr9:139399226 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3556G>A (p.Glu1186Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748378]|Familial thoracic aortic aneurysm and aortic dissection [RCV002454895]|NOTCH1-related condition [RCV003418454] |
Chr9:136507392 [GRCh38]
Chr9:139401844 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3383C>T (p.Thr1128Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586331]|Familial thoracic aortic aneurysm and aortic dissection [RCV002451842] |
Chr9:136508082 [GRCh38]
Chr9:139402534 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.338A>G (p.Asn113Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003099443]|Familial thoracic aortic aneurysm and aortic dissection [RCV002451889] |
Chr9:136523782 [GRCh38]
Chr9:139418234 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5756G>A (p.Ser1919Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002349943] |
Chr9:136500730 [GRCh38]
Chr9:139395182 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.629A>G (p.His210Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002368756] |
Chr9:136522963 [GRCh38]
Chr9:139417415 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6303A>T (p.Ala2101=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002368795] |
Chr9:136497436 [GRCh38]
Chr9:139391888 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3667G>A (p.Asp1223Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003094287]|Familial thoracic aortic aneurysm and aortic dissection [RCV002452609] |
Chr9:136506950 [GRCh38]
Chr9:139401402 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2890G>A (p.Val964Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003102841]|Familial thoracic aortic aneurysm and aortic dissection [RCV002437931] |
Chr9:136509812 [GRCh38]
Chr9:139404264 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4478C>T (p.Ser1493Phe) |
single nucleotide variant |
not provided [RCV002469715] |
Chr9:136505418 [GRCh38]
Chr9:139399870 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4589C>T (p.Pro1530Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002342254] |
Chr9:136505102 [GRCh38]
Chr9:139399554 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5732C>G (p.Ser1911Cys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002347737] |
Chr9:136500754 [GRCh38]
Chr9:139395206 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4815_4816insCCCCCC (p.Val1605_Phe1606insProPro) |
insertion |
Adams-Oliver syndrome 5 [RCV002837661] |
Chr9:136504875..136504876 [GRCh38]
Chr9:139399327..139399328 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4343C>T (p.Ala1448Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586338]|Familial thoracic aortic aneurysm and aortic dissection [RCV002332209] |
Chr9:136505553 [GRCh38]
Chr9:139400005 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4987C>T (p.Arg1663Trp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003776007]|Familial thoracic aortic aneurysm and aortic dissection [RCV002342918] |
Chr9:136504704 [GRCh38]
Chr9:139399156 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| GRCh37/hg19 9q34.3(chr9:139307719-139563040)x3 |
copy number gain |
not provided [RCV002472762] |
Chr9:139307719..139563040 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1251G>C (p.Ser417=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748414]|Familial thoracic aortic aneurysm and aortic dissection [RCV002412206] |
Chr9:136518141 [GRCh38]
Chr9:139412593 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2133C>T (p.Pro711=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002417818] |
Chr9:136514584 [GRCh38]
Chr9:139409036 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6913_6916del (p.Asn2305fs) |
deletion |
Adams-Oliver syndrome 5 [RCV002470663] |
Chr9:136496823..136496826 [GRCh38]
Chr9:139391275..139391278 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.5372C>G (p.Ser1791Cys) |
single nucleotide variant |
not provided [RCV002467357] |
Chr9:136502284 [GRCh38]
Chr9:139396736 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5612G>A (p.Cys1871Tyr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002344969] |
Chr9:136501774 [GRCh38]
Chr9:139396226 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1364A>C (p.Glu455Ala) |
single nucleotide variant |
not provided [RCV003156598] |
Chr9:136517829 [GRCh38]
Chr9:139412281 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4583_4586+2dup |
duplication |
Aortic valve disease 1 [RCV003148119] |
Chr9:136505307..136505308 [GRCh38]
Chr9:139399759..139399760 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7490C>A (p.Thr2497Asn) |
single nucleotide variant |
not provided [RCV003149328] |
Chr9:136496249 [GRCh38]
Chr9:139390701 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5321A>G (p.Lys1774Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002346794] |
Chr9:136502335 [GRCh38]
Chr9:139396787 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2012_2013dup (p.Gly672fs) |
microsatellite |
Familial thoracic aortic aneurysm and aortic dissection [RCV002417368] |
Chr9:136515290..136515291 [GRCh38]
Chr9:139409742..139409743 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.7620C>A (p.Pro2540=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002396267] |
Chr9:136496119 [GRCh38]
Chr9:139390571 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7039G>C (p.Val2347Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002378271] |
Chr9:136496700 [GRCh38]
Chr9:139391152 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.715G>A (p.Val239Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586354]|Familial thoracic aortic aneurysm and aortic dissection [RCV002378351] |
Chr9:136522877 [GRCh38]
Chr9:139417329 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7164A>G (p.Gln2388=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002378368] |
Chr9:136496575 [GRCh38]
Chr9:139391027 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5386C>T (p.Pro1796Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002304090] |
Chr9:136502087 [GRCh38]
Chr9:139396539 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1018G>A (p.Ala340Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003098096]|Familial thoracic aortic aneurysm and aortic dissection [RCV002357950] |
Chr9:136518672 [GRCh38]
Chr9:139413124 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6990G>A (p.Val2330=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002364684] |
Chr9:136496749 [GRCh38]
Chr9:139391201 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2257A>C (p.Asn753His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002304461] |
Chr9:136513488 [GRCh38]
Chr9:139407940 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3283G>A (p.Asp1095Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002310602]|Familial thoracic aortic aneurysm and aortic dissection [RCV002443316] |
Chr9:136508274 [GRCh38]
Chr9:139402726 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_017617.5(NOTCH1):c.6900G>T (p.Gly2300=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002362322] |
Chr9:136496839 [GRCh38]
Chr9:139391291 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6951C>A (p.Gly2317=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002362458] |
Chr9:136496788 [GRCh38]
Chr9:139391240 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5128G>C (p.Gly1710Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002303446] |
Chr9:136503221 [GRCh38]
Chr9:139397673 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4026C>T (p.Gly1342=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003094488]|Familial thoracic aortic aneurysm and aortic dissection [RCV002359518] |
Chr9:136505870 [GRCh38]
Chr9:139400322 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6626_6629del (p.Tyr2209fs) |
deletion |
Abnormal cardiovascular system morphology [RCV002306280] |
Chr9:136497110..136497113 [GRCh38]
Chr9:139391562..139391565 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.2150T>C (p.Val717Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002432468] |
Chr9:136514567 [GRCh38]
Chr9:139409019 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1197C>A (p.Thr399=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002340866] |
Chr9:136518195 [GRCh38]
Chr9:139412647 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6487A>C (p.Ser2163Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002361980] |
Chr9:136497252 [GRCh38]
Chr9:139391704 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4482G>T (p.Leu1494=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003094724]|Familial thoracic aortic aneurysm and aortic dissection [RCV002328570] |
Chr9:136505414 [GRCh38]
Chr9:139399866 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.139G>C (p.Val47Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002389216] |
Chr9:136544025 [GRCh38]
Chr9:139438477 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7231C>T (p.Pro2411Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002371015] |
Chr9:136496508 [GRCh38]
Chr9:139390960 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5964G>C (p.Leu1988=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002356052] |
Chr9:136499230 [GRCh38]
Chr9:139393682 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.164C>G (p.Pro55Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002395029] |
Chr9:136523956 [GRCh38]
Chr9:139418408 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3343C>T (p.Leu1115=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002326615] |
Chr9:136508122 [GRCh38]
Chr9:139402574 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4792C>T (p.Arg1598Cys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002337821] |
Chr9:136504899 [GRCh38]
Chr9:139399351 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2218G>T (p.Asp740Tyr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003098725]|Familial thoracic aortic aneurysm and aortic dissection [RCV002425957] |
Chr9:136513527 [GRCh38]
Chr9:139407979 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1533G>T (p.Glu511Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002403006]|not provided [RCV003130714] |
Chr9:136517294 [GRCh38]
Chr9:139411746 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.829A>G (p.Asn277Asp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002301258] |
Chr9:136519479 [GRCh38]
Chr9:139413931 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7040T>C (p.Val2347Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002364956] |
Chr9:136496699 [GRCh38]
Chr9:139391151 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5132G>A (p.Ser1711Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002338179] |
Chr9:136503217 [GRCh38]
Chr9:139397669 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.772A>G (p.Ile258Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002400715] |
Chr9:136519536 [GRCh38]
Chr9:139413988 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4101G>T (p.Pro1367=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002323350] |
Chr9:136505795 [GRCh38]
Chr9:139400247 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3295G>T (p.Val1099Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002296287] |
Chr9:136508262 [GRCh38]
Chr9:139402714 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7271C>T (p.Ala2424Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002382593] |
Chr9:136496468 [GRCh38]
Chr9:139390920 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3600C>G (p.Asp1200Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002455208] |
Chr9:136507348 [GRCh38]
Chr9:139401800 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6963C>T (p.Asn2321=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002378159] |
Chr9:136496776 [GRCh38]
Chr9:139391228 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1574G>C (p.Cys525Ser) |
single nucleotide variant |
not provided [RCV002300934] |
Chr9:136516076 [GRCh38]
Chr9:139410528 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4778T>C (p.Leu1593Pro) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002301948] |
Chr9:136504913 [GRCh38]
Chr9:139399365 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3420C>T (p.Ser1140=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002456942] |
Chr9:136508045 [GRCh38]
Chr9:139402497 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3511-3C>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002459220] |
Chr9:136507440 [GRCh38]
Chr9:139401892 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2494C>T (p.Pro832Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002430985] |
Chr9:136511245 [GRCh38]
Chr9:139405697 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.182A>G (p.Asn61Ser) |
single nucleotide variant |
not provided [RCV002306361] |
Chr9:136523938 [GRCh38]
Chr9:139418390 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2408A>G (p.Gln803Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002459701] |
Chr9:136513080 [GRCh38]
Chr9:139407532 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7000C>T (p.Pro2334Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586353]|Familial thoracic aortic aneurysm and aortic dissection [RCV002378244] |
Chr9:136496739 [GRCh38]
Chr9:139391191 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6927G>C (p.Glu2309Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002362380] |
Chr9:136496812 [GRCh38]
Chr9:139391264 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3098G>A (p.Gly1033Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002325872] |
Chr9:136508943 [GRCh38]
Chr9:139403395 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2499T>C (p.Cys833=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002431034] |
Chr9:136511240 [GRCh38]
Chr9:139405692 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4327C>A (p.Pro1443Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002298092] |
Chr9:136505569 [GRCh38]
Chr9:139400021 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3148G>A (p.Gly1050Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002320779] |
Chr9:136508893 [GRCh38]
Chr9:139403345 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4728G>A (p.Val1576=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002335443] |
Chr9:136504963 [GRCh38]
Chr9:139399415 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7135C>T (p.Leu2379=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003098480]|Familial thoracic aortic aneurysm and aortic dissection [RCV002378348] |
Chr9:136496604 [GRCh38]
Chr9:139391056 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3527A>G (p.His1176Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002459362] |
Chr9:136507421 [GRCh38]
Chr9:139401873 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6849C>T (p.Ser2283=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002362095] |
Chr9:136496890 [GRCh38]
Chr9:139391342 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4841A>T (p.Gln1614Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002338145] |
Chr9:136504850 [GRCh38]
Chr9:139399302 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5567C>A (p.Ser1856Tyr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002301068] |
Chr9:136501819 [GRCh38]
Chr9:139396271 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2350A>G (p.Ser784Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002448396] |
Chr9:136513395 [GRCh38]
Chr9:139407847 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4546T>C (p.Phe1516Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002340131] |
Chr9:136505350 [GRCh38]
Chr9:139399802 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6905C>T (p.Thr2302Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003776323]|Familial thoracic aortic aneurysm and aortic dissection [RCV002378071] |
Chr9:136496834 [GRCh38]
Chr9:139391286 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6512A>T (p.Lys2171Met) |
single nucleotide variant |
not provided [RCV002305937] |
Chr9:136497227 [GRCh38]
Chr9:139391679 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6879C>G (p.Ala2293=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002362209] |
Chr9:136496860 [GRCh38]
Chr9:139391312 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5712G>T (p.Glu1904Asp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002299004] |
Chr9:136500774 [GRCh38]
Chr9:139395226 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1156A>G (p.Asn386Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002355424] |
Chr9:136518236 [GRCh38]
Chr9:139412688 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2436G>T (p.Gly812=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002459943] |
Chr9:136513052 [GRCh38]
Chr9:139407504 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3160C>T (p.Pro1054Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003099245]|Familial thoracic aortic aneurysm and aortic dissection [RCV002320938] |
Chr9:136508881 [GRCh38]
Chr9:139403333 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3114C>G (p.Asp1038Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002326124] |
Chr9:136508927 [GRCh38]
Chr9:139403379 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2351G>C (p.Ser784Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003101751]|Familial thoracic aortic aneurysm and aortic dissection [RCV002448420] |
Chr9:136513394 [GRCh38]
Chr9:139407846 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1379C>T (p.Pro460Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748422]|Familial thoracic aortic aneurysm and aortic dissection [RCV002381112] |
Chr9:136517814 [GRCh38]
Chr9:139412266 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1726C>T (p.His576Tyr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002399126]|not provided [RCV003156385] |
Chr9:136515660 [GRCh38]
Chr9:139410112 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3465G>C (p.Gln1155His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003099501]|Familial thoracic aortic aneurysm and aortic dissection [RCV002337490] |
Chr9:136508000 [GRCh38]
Chr9:139402452 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4568G>T (p.Arg1523Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002340231] |
Chr9:136505328 [GRCh38]
Chr9:139399780 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1338C>A (p.Gly446=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002387629] |
Chr9:136517855 [GRCh38]
Chr9:139412307 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2595C>T (p.Thr865=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003102002]|Familial thoracic aortic aneurysm and aortic dissection [RCV002426172] |
Chr9:136510798 [GRCh38]
Chr9:139405250 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.1058G>A (p.Arg353His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003108086]|Familial thoracic aortic aneurysm and aortic dissection [RCV002401423] |
Chr9:136518632 [GRCh38]
Chr9:139413084 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3975C>G (p.Ala1325=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002321136] |
Chr9:136506566 [GRCh38]
Chr9:139401018 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2414C>A (p.Thr805Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002459743] |
Chr9:136513074 [GRCh38]
Chr9:139407526 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6525C>T (p.Asp2175=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002364257] |
Chr9:136497214 [GRCh38]
Chr9:139391666 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5168G>C (p.Ser1723Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002338353] |
Chr9:136502488 [GRCh38]
Chr9:139396940 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6533C>T (p.Ala2178Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002364292] |
Chr9:136497206 [GRCh38]
Chr9:139391658 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6388G>C (p.Gly2130Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002354084] |
Chr9:136497351 [GRCh38]
Chr9:139391803 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1591G>A (p.Glu531Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586363]|Familial thoracic aortic aneurysm and aortic dissection [RCV002398445]|not provided [RCV003322917] |
Chr9:136516059 [GRCh38]
Chr9:139410511 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.65C>T (p.Pro22Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002364561]|not provided [RCV002463204] |
Chr9:136544099 [GRCh38]
Chr9:139438551 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4020C>T (p.Phe1340=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003094486]|Familial thoracic aortic aneurysm and aortic dissection [RCV002359488] |
Chr9:136505876 [GRCh38]
Chr9:139400328 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.1553C>G (p.Thr518Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002403409] |
Chr9:136517274 [GRCh38]
Chr9:139411726 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.142T>A (p.Cys48Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002299468] |
Chr9:136523978 [GRCh38]
Chr9:139418430 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.330C>G (p.Pro110=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002326284] |
Chr9:136523790 [GRCh38]
Chr9:139418242 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4184A>T (p.Asn1395Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002327731] |
Chr9:136505712 [GRCh38]
Chr9:139400164 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1350G>A (p.Glu450=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586359]|Familial thoracic aortic aneurysm and aortic dissection [RCV002387942] |
Chr9:136517843 [GRCh38]
Chr9:139412295 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.7001C>A (p.Pro2334His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002364801] |
Chr9:136496738 [GRCh38]
Chr9:139391190 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7355C>T (p.Ala2452Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748410]|Familial thoracic aortic aneurysm and aortic dissection [RCV002380266]|not provided [RCV003443044] |
Chr9:136496384 [GRCh38]
Chr9:139390836 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.7365T>C (p.Thr2455=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002380325] |
Chr9:136496374 [GRCh38]
Chr9:139390826 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2741-3C>G |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002439248] |
Chr9:136509964 [GRCh38]
Chr9:139404416 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2759G>C (p.Gly920Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002439453] |
Chr9:136509943 [GRCh38]
Chr9:139404395 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3080C>T (p.Ser1027Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002319881] |
Chr9:136508961 [GRCh38]
Chr9:139403413 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4801C>A (p.His1601Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002337886] |
Chr9:136504890 [GRCh38]
Chr9:139399342 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4437C>T (p.Cys1479=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002328243] |
Chr9:136505459 [GRCh38]
Chr9:139399911 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7030C>T (p.His2344Tyr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002364934] |
Chr9:136496709 [GRCh38]
Chr9:139391161 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4913G>T (p.Trp1638Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002340703] |
Chr9:136504778 [GRCh38]
Chr9:139399230 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2549A>G (p.Tyr850Cys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002433280] |
Chr9:136511190 [GRCh38]
Chr9:139405642 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4200G>C (p.Gln1400His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002327871] |
Chr9:136505696 [GRCh38]
Chr9:139400148 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1196C>A (p.Thr399Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003096649]|Familial thoracic aortic aneurysm and aortic dissection [RCV002338629] |
Chr9:136518196 [GRCh38]
Chr9:139412648 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4867G>C (p.Glu1623Gln) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002340380] |
Chr9:136504824 [GRCh38]
Chr9:139399276 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2762C>T (p.Ser921Phe) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002439515] |
Chr9:136509940 [GRCh38]
Chr9:139404392 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5092G>T (p.Asp1698Tyr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002335946] |
Chr9:136503257 [GRCh38]
Chr9:139397709 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3770C>G (p.Pro1257Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748385]|Familial thoracic aortic aneurysm and aortic dissection [RCV002363864] |
Chr9:136506847 [GRCh38]
Chr9:139401299 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5235G>A (p.Val1745=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002340871] |
Chr9:136502421 [GRCh38]
Chr9:139396873 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7473C>T (p.Ser2491=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002391476] |
Chr9:136496266 [GRCh38]
Chr9:139390718 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6423G>A (p.Ser2141=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586350]|Familial thoracic aortic aneurysm and aortic dissection [RCV002361686] |
Chr9:136497316 [GRCh38]
Chr9:139391768 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6612G>A (p.Glu2204=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003098306]|Familial thoracic aortic aneurysm and aortic dissection [RCV002364593] |
Chr9:136497127 [GRCh38]
Chr9:139391579 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4929C>A (p.Ala1643=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586344]|Familial thoracic aortic aneurysm and aortic dissection [RCV002340745] |
Chr9:136504762 [GRCh38]
Chr9:139399214 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.2918C>T (p.Ala973Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586376]|Familial thoracic aortic aneurysm and aortic dissection [RCV002439899] |
Chr9:136509784 [GRCh38]
Chr9:139404236 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3061G>C (p.Asp1021His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003103020]|Familial thoracic aortic aneurysm and aortic dissection [RCV002444227] |
Chr9:136508980 [GRCh38]
Chr9:139403432 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7488C>T (p.Asn2496=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002391533] |
Chr9:136496251 [GRCh38]
Chr9:139390703 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7494C>T (p.Pro2498=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002391575] |
Chr9:136496245 [GRCh38]
Chr9:139390697 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5402C>G (p.Ser1801Ter) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002302554] |
Chr9:136502071 [GRCh38]
Chr9:139396523 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.1684C>T (p.His562Tyr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748425]|Familial thoracic aortic aneurysm and aortic dissection [RCV002414557] |
Chr9:136515702 [GRCh38]
Chr9:139410154 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2914C>T (p.Pro972Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002439858] |
Chr9:136509788 [GRCh38]
Chr9:139404240 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7011A>C (p.Thr2337=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003776336]|Familial thoracic aortic aneurysm and aortic dissection [RCV002364836]|NOTCH1-related condition [RCV003961022] |
Chr9:136496728 [GRCh38]
Chr9:139391180 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4951T>G (p.Ser1651Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002342737] |
Chr9:136504740 [GRCh38]
Chr9:139399192 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6192C>T (p.Pro2064=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586348]|Familial thoracic aortic aneurysm and aortic dissection [RCV002353831] |
Chr9:136497547 [GRCh38]
Chr9:139391999 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6008C>T (p.Ala2003Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002358038] |
Chr9:136499186 [GRCh38]
Chr9:139393638 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6423G>T (p.Ser2141=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003776255]|Familial thoracic aortic aneurysm and aortic dissection [RCV002361688] |
Chr9:136497316 [GRCh38]
Chr9:139391768 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2839A>T (p.Asn947Tyr) |
single nucleotide variant |
not provided [RCV002308791] |
Chr9:136509863 [GRCh38]
Chr9:139404315 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4587-5C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748395]|Familial thoracic aortic aneurysm and aortic dissection [RCV002342243] |
Chr9:136505109 [GRCh38]
Chr9:139399561 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.536T>A (p.Val179Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002347058] |
Chr9:136523056 [GRCh38]
Chr9:139417508 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5373C>A (p.Ser1791=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002347072] |
Chr9:136502283 [GRCh38]
Chr9:139396735 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6314T>C (p.Met2105Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002353982] |
Chr9:136497425 [GRCh38]
Chr9:139391877 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6327C>T (p.Ile2109=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002354008] |
Chr9:136497412 [GRCh38]
Chr9:139391864 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3060C>T (p.His1020=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586377]|Familial thoracic aortic aneurysm and aortic dissection [RCV002444220] |
Chr9:136508981 [GRCh38]
Chr9:139403433 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.7080C>T (p.Ser2360=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003098466]|Familial thoracic aortic aneurysm and aortic dissection [RCV002365135] |
Chr9:136496659 [GRCh38]
Chr9:139391111 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.499C>G (p.Pro167Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002342990] |
Chr9:136523093 [GRCh38]
Chr9:139417545 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2928C>A (p.Ser976Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002440010] |
Chr9:136509774 [GRCh38]
Chr9:139404226 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1485C>T (p.Ala495=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002389569] |
Chr9:136517342 [GRCh38]
Chr9:139411794 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.922A>C (p.Asn308His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002371306] |
Chr9:136518768 [GRCh38]
Chr9:139413220 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3041C>T (p.Thr1014Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002444012] |
Chr9:136509000 [GRCh38]
Chr9:139403452 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2481G>C (p.Glu827Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002430800] |
Chr9:136511258 [GRCh38]
Chr9:139405710 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1062G>C (p.Val354=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003774516]|Familial thoracic aortic aneurysm and aortic dissection [RCV002410371]|not provided [RCV003427471] |
Chr9:136518628 [GRCh38]
Chr9:139413080 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1477G>C (p.Glu493Gln) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002295475] |
Chr9:136517350 [GRCh38]
Chr9:139411802 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2498G>A (p.Cys833Tyr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002431019]|not provided [RCV003319525] |
Chr9:136511241 [GRCh38]
Chr9:139405693 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6060C>T (p.Asp2020=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003098119]|Familial thoracic aortic aneurysm and aortic dissection [RCV002358323] |
Chr9:136499134 [GRCh38]
Chr9:139393586 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.6593C>G (p.Ser2198Trp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002302168] |
Chr9:136497146 [GRCh38]
Chr9:139391598 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5395A>C (p.Asn1799His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002347204] |
Chr9:136502078 [GRCh38]
Chr9:139396530 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6861C>T (p.Gly2287=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002362155] |
Chr9:136496878 [GRCh38]
Chr9:139391330 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2507G>A (p.Ser836Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002431149] |
Chr9:136511232 [GRCh38]
Chr9:139405684 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6864C>T (p.Ser2288=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748405]|Familial thoracic aortic aneurysm and aortic dissection [RCV002362162] |
Chr9:136496875 [GRCh38]
Chr9:139391327 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.6857T>A (p.Leu2286Gln) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586351]|Familial thoracic aortic aneurysm and aortic dissection [RCV002362134] |
Chr9:136496882 [GRCh38]
Chr9:139391334 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.891C>T (p.Asp297=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003100055]|Familial thoracic aortic aneurysm and aortic dissection [RCV002376118] |
Chr9:136518799 [GRCh38]
Chr9:139413251 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.6880C>G (p.Leu2294Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586352]|Familial thoracic aortic aneurysm and aortic dissection [RCV002362239] |
Chr9:136496859 [GRCh38]
Chr9:139391311 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6578G>A (p.Ser2193Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002364475] |
Chr9:136497161 [GRCh38]
Chr9:139391613 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.461A>G (p.Gln154Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586342]|Familial thoracic aortic aneurysm and aortic dissection [RCV002342502] |
Chr9:136523131 [GRCh38]
Chr9:139417583 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5236C>T (p.Leu1746Phe) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002344325] |
Chr9:136502420 [GRCh38]
Chr9:139396872 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1862G>T (p.Arg621Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002414946] |
Chr9:136515524 [GRCh38]
Chr9:139409976 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2346C>A (p.Gly782=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748437]|Familial thoracic aortic aneurysm and aortic dissection [RCV002448329] |
Chr9:136513399 [GRCh38]
Chr9:139407851 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5210T>C (p.Met1737Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002344271] |
Chr9:136502446 [GRCh38]
Chr9:139396898 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4335C>A (p.Ile1445=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002332147] |
Chr9:136505561 [GRCh38]
Chr9:139400013 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1915G>A (p.Glu639Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586365]|Familial thoracic aortic aneurysm and aortic dissection [RCV002410611] |
Chr9:136515389 [GRCh38]
Chr9:139409841 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.592G>A (p.Glu198Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003098066]|Familial thoracic aortic aneurysm and aortic dissection [RCV002355860] |
Chr9:136523000 [GRCh38]
Chr9:139417452 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5319C>G (p.Phe1773Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002344684] |
Chr9:136502337 [GRCh38]
Chr9:139396789 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2952G>A (p.Thr984=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002441886] |
Chr9:136509750 [GRCh38]
Chr9:139404202 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5760G>A (p.Leu1920=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002359594] |
Chr9:136500726 [GRCh38]
Chr9:139395178 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2658C>A (p.Asn886Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002428717] |
Chr9:136510735 [GRCh38]
Chr9:139405187 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5624A>G (p.Asn1875Ser) |
single nucleotide variant |
not provided [RCV002306149] |
Chr9:136501762 [GRCh38]
Chr9:139396214 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.7326C>T (p.Asp2442=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748409]|Familial thoracic aortic aneurysm and aortic dissection [RCV002380131]|not specified [RCV003324030] |
Chr9:136496413 [GRCh38]
Chr9:139390865 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.4210G>A (p.Glu1404Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002327962] |
Chr9:136505686 [GRCh38]
Chr9:139400138 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4636G>A (p.Asp1546Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002342584]|not provided [RCV003434467] |
Chr9:136505055 [GRCh38]
Chr9:139399507 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4347C>T (p.Cys1449=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002332228] |
Chr9:136505549 [GRCh38]
Chr9:139400001 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.569G>T (p.Arg190Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002347535] |
Chr9:136523023 [GRCh38]
Chr9:139417475 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2185G>T (p.Ala729Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003775131]|Familial thoracic aortic aneurysm and aortic dissection [RCV002425481] |
Chr9:136514532 [GRCh38]
Chr9:139408984 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1024G>A (p.Ala342Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002380566] |
Chr9:136518666 [GRCh38]
Chr9:139413118 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7389C>A (p.Ala2463=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002380427] |
Chr9:136496350 [GRCh38]
Chr9:139390802 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7356G>T (p.Ala2452=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002380272] |
Chr9:136496383 [GRCh38]
Chr9:139390835 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1189A>G (p.Ile397Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002342667] |
Chr9:136518203 [GRCh38]
Chr9:139412655 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5888C>A (p.Thr1963Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002302236] |
Chr9:136500598 [GRCh38]
Chr9:139395050 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5394G>T (p.Lys1798Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002347203] |
Chr9:136502079 [GRCh38]
Chr9:139396531 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4105A>G (p.Ser1369Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002323369] |
Chr9:136505791 [GRCh38]
Chr9:139400243 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5630G>A (p.Arg1877His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586346]|Familial thoracic aortic aneurysm and aortic dissection [RCV002345090] |
Chr9:136501756 [GRCh38]
Chr9:139396208 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4099C>A (p.Pro1367Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002323286] |
Chr9:136505797 [GRCh38]
Chr9:139400249 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3536A>T (p.Asn1179Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002337575] |
Chr9:136507412 [GRCh38]
Chr9:139401864 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7382G>A (p.Ser2461Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002380417] |
Chr9:136496357 [GRCh38]
Chr9:139390809 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4822C>T (p.Arg1608Cys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002338032] |
Chr9:136504869 [GRCh38]
Chr9:139399321 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4966G>A (p.Gly1656Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002342817] |
Chr9:136504725 [GRCh38]
Chr9:139399177 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6852C>A (p.Thr2284=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003120952]|Familial thoracic aortic aneurysm and aortic dissection [RCV002377991] |
Chr9:136496887 [GRCh38]
Chr9:139391339 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3694G>T (p.Val1232Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002346748] |
Chr9:136506923 [GRCh38]
Chr9:139401375 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2280C>A (p.Asn760Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003098774]|Familial thoracic aortic aneurysm and aortic dissection [RCV002446080] |
Chr9:136513465 [GRCh38]
Chr9:139407917 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4830A>C (p.Ala1610=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002338078] |
Chr9:136504861 [GRCh38]
Chr9:139399313 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6087G>A (p.Lys2029=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002360030] |
Chr9:136498992 [GRCh38]
Chr9:139393444 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4974G>C (p.Glu1658Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002342858] |
Chr9:136504717 [GRCh38]
Chr9:139399169 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.82G>A (p.Gly28Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002430338]|NOTCH1-related condition [RCV003418482] |
Chr9:136544082 [GRCh38]
Chr9:139438534 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2524G>A (p.Gly842Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002433081] |
Chr9:136511215 [GRCh38]
Chr9:139405667 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6825C>T (p.His2275=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002369625] |
Chr9:136496914 [GRCh38]
Chr9:139391366 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2619C>T (p.Cys873=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748444]|Familial thoracic aortic aneurysm and aortic dissection [RCV002426375] |
Chr9:136510774 [GRCh38]
Chr9:139405226 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.6860G>A (p.Gly2287Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002378001] |
Chr9:136496879 [GRCh38]
Chr9:139391331 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7608C>T (p.Val2536=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002396192] |
Chr9:136496131 [GRCh38]
Chr9:139390583 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7614C>T (p.Ser2538=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748411]|Familial thoracic aortic aneurysm and aortic dissection [RCV002396231] |
Chr9:136496125 [GRCh38]
Chr9:139390577 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4685C>T (p.Ala1562Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002335219] |
Chr9:136505006 [GRCh38]
Chr9:139399458 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5008G>T (p.Asp1670Tyr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002343086] |
Chr9:136504683 [GRCh38]
Chr9:139399135 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.272T>C (p.Leu91Pro) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002298117] |
Chr9:136523848 [GRCh38]
Chr9:139418300 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.900G>C (p.Gln300His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002300465] |
Chr9:136518790 [GRCh38]
Chr9:139413242 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3155C>T (p.Thr1052Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002303270] |
Chr9:136508886 [GRCh38]
Chr9:139403338 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2768C>T (p.Thr923Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586373]|Familial thoracic aortic aneurysm and aortic dissection [RCV002439571] |
Chr9:136509934 [GRCh38]
Chr9:139404386 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1239G>A (p.Val413=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003098504]|Familial thoracic aortic aneurysm and aortic dissection [RCV002370875] |
Chr9:136518153 [GRCh38]
Chr9:139412605 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.4302T>G (p.Gly1434=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002331907] |
Chr9:136505594 [GRCh38]
Chr9:139400046 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2771A>C (p.Asp924Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002439623] |
Chr9:136509931 [GRCh38]
Chr9:139404383 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3236C>T (p.Thr1079Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003102335]|Familial thoracic aortic aneurysm and aortic dissection [RCV002324762]|not provided [RCV002508354] |
Chr9:136508321 [GRCh38]
Chr9:139402773 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7042G>A (p.Gly2348Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003776339]|Familial thoracic aortic aneurysm and aortic dissection [RCV002378289]|NOTCH1-related condition [RCV003403801] |
Chr9:136496697 [GRCh38]
Chr9:139391149 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2778C>G (p.Ile926Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002439683] |
Chr9:136509924 [GRCh38]
Chr9:139404376 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5889C>A (p.Thr1963=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002353556] |
Chr9:136500597 [GRCh38]
Chr9:139395049 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1577A>G (p.Gln526Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002299666] |
Chr9:136516073 [GRCh38]
Chr9:139410525 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6433T>C (p.Tyr2145His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002361751] |
Chr9:136497306 [GRCh38]
Chr9:139391758 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6624C>T (p.Gly2208=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002364623] |
Chr9:136497115 [GRCh38]
Chr9:139391567 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6159C>A (p.Asn2053Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002353623] |
Chr9:136498920 [GRCh38]
Chr9:139393372 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7227GCC[3] (p.Pro2415_Gln2416insPro) |
microsatellite |
Familial thoracic aortic aneurysm and aortic dissection [RCV002371012]|not provided [RCV003222423] |
Chr9:136496506..136496507 [GRCh38]
Chr9:139390958..139390959 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1906C>T (p.Pro636Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002994647] |
Chr9:136515398 [GRCh38]
Chr9:139409850 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1255+19G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002816295] |
Chr9:136518118 [GRCh38]
Chr9:139412570 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7039_7047del (p.Val2347_Pro2349del) |
deletion |
Adams-Oliver syndrome 5 [RCV003013984] |
Chr9:136496692..136496700 [GRCh38]
Chr9:139391144..139391152 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.824G>C (p.Gly275Ala) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002839128] |
Chr9:136519484 [GRCh38]
Chr9:139413936 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2323T>C (p.Tyr775His) |
single nucleotide variant |
not provided [RCV002511320] |
Chr9:136513422 [GRCh38]
Chr9:139407874 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6301G>A (p.Ala2101Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002905340] |
Chr9:136497438 [GRCh38]
Chr9:139391890 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2041G>A (p.Glu681Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003015699] |
Chr9:136514676 [GRCh38]
Chr9:139409128 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1255+13dup |
duplication |
Adams-Oliver syndrome 5 [RCV003012403] |
Chr9:136518123..136518124 [GRCh38]
Chr9:139412575..139412576 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1556-17C>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002903930] |
Chr9:136516111 [GRCh38]
Chr9:139410563 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5032C>T (p.Leu1678=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002686171] |
Chr9:136503317 [GRCh38]
Chr9:139397769 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.788G>A (p.Gly263Glu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002730511] |
Chr9:136519520 [GRCh38]
Chr9:139413972 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2315C>A (p.Thr772Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003086287]|Inborn genetic diseases [RCV003076109] |
Chr9:136513430 [GRCh38]
Chr9:139407882 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3788G>T (p.Arg1263Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003075949] |
Chr9:136506829 [GRCh38]
Chr9:139401281 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.2594C>T (p.Thr865Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586380]|Inborn genetic diseases [RCV002687019]|NOTCH1-related condition [RCV003420415] |
Chr9:136510799 [GRCh38]
Chr9:139405251 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.5146T>C (p.Tyr1716His) |
single nucleotide variant |
not provided [RCV002462664] |
Chr9:136503203 [GRCh38]
Chr9:139397655 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6535C>T (p.Arg2179Trp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002780059]|not provided [RCV003149041] |
Chr9:136497204 [GRCh38]
Chr9:139391656 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4861G>A (p.Gly1621Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002681659] |
Chr9:136504830 [GRCh38]
Chr9:139399282 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7416G>T (p.Leu2472=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003095571] |
Chr9:136496323 [GRCh38]
Chr9:139390775 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3715T>G (p.Phe1239Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002904448] |
Chr9:136506902 [GRCh38]
Chr9:139401354 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.1809C>T (p.Asn603=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002866137] |
Chr9:136515577 [GRCh38]
Chr9:139410029 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2103C>G (p.Thr701=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002616558] |
Chr9:136514614 [GRCh38]
Chr9:139409066 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5438G>C (p.Trp1813Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002881860] |
Chr9:136502035 [GRCh38]
Chr9:139396487 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4864C>T (p.Arg1622Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002780076] |
Chr9:136504827 [GRCh38]
Chr9:139399279 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3495C>A (p.Gly1165=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002996078] |
Chr9:136507970 [GRCh38]
Chr9:139402422 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2677T>G (p.Cys893Gly) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002947330] |
Chr9:136510716 [GRCh38]
Chr9:139405168 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4814T>C (p.Val1605Ala) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003073851]|Familial thoracic aortic aneurysm and aortic dissection [RCV003348992] |
Chr9:136504877 [GRCh38]
Chr9:139399329 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.61+8C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002838104] |
Chr9:136545718 [GRCh38]
Chr9:139440170 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2970-9C>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002996154] |
Chr9:136509080 [GRCh38]
Chr9:139403532 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.743-19C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002994460] |
Chr9:136519584 [GRCh38]
Chr9:139414036 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4081G>A (p.Gly1361Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002775628] |
Chr9:136505815 [GRCh38]
Chr9:139400267 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.742+15T>C |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002861873] |
Chr9:136522835 [GRCh38]
Chr9:139417287 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7599C>T (p.Ser2533=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002995917] |
Chr9:136496140 [GRCh38]
Chr9:139390592 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6466A>G (p.Lys2156Glu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002863821] |
Chr9:136497273 [GRCh38]
Chr9:139391725 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.866-16C>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002907837] |
Chr9:136518840 [GRCh38]
Chr9:139413292 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7118T>C (p.Leu2373Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002841714] |
Chr9:136496621 [GRCh38]
Chr9:139391073 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5196G>A (p.Ala1732=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003095786] |
Chr9:136502460 [GRCh38]
Chr9:139396912 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6983G>T (p.Gly2328Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003097453] |
Chr9:136496756 [GRCh38]
Chr9:139391208 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.4806C>G (p.Thr1602=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003013660] |
Chr9:136504885 [GRCh38]
Chr9:139399337 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3747C>T (p.Gly1249=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003014222] |
Chr9:136506870 [GRCh38]
Chr9:139401322 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1014C>T (p.Asp338=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002862888] |
Chr9:136518676 [GRCh38]
Chr9:139413128 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5019-18C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002861946] |
Chr9:136503348 [GRCh38]
Chr9:139397800 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7622C>T (p.Thr2541Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002839398] |
Chr9:136496117 [GRCh38]
Chr9:139390569 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3901+11C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002903745] |
Chr9:136506705 [GRCh38]
Chr9:139401157 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.1923C>T (p.Asn641=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003034404] |
Chr9:136515381 [GRCh38]
Chr9:139409833 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1903+6C>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003076018] |
Chr9:136515477 [GRCh38]
Chr9:139409929 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2328G>A (p.Val776=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002907955]|Familial thoracic aortic aneurysm and aortic dissection [RCV003308318] |
Chr9:136513417 [GRCh38]
Chr9:139407869 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.4988G>T (p.Arg1663Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002843092] |
Chr9:136504703 [GRCh38]
Chr9:139399155 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.866G>C (p.Gly289Ala) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002755662] |
Chr9:136518824 [GRCh38]
Chr9:139413276 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6181-12C>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002842392] |
Chr9:136497570 [GRCh38]
Chr9:139392022 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2969+6C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003076570] |
Chr9:136509727 [GRCh38]
Chr9:139404179 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6925G>A (p.Glu2309Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002947200] |
Chr9:136496814 [GRCh38]
Chr9:139391266 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.880G>A (p.Glu294Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003075005] |
Chr9:136518810 [GRCh38]
Chr9:139413262 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.2673C>T (p.Tyr891=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003017030] |
Chr9:136510720 [GRCh38]
Chr9:139405172 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1951G>T (p.Asp651Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002906653]|not provided [RCV003332414] |
Chr9:136515353 [GRCh38]
Chr9:139409805 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3171+11C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002948586] |
Chr9:136508859 [GRCh38]
Chr9:139403311 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3401_3402delinsTT (p.Gln1134Leu) |
indel |
Adams-Oliver syndrome 5 [RCV002640354] |
Chr9:136508063..136508064 [GRCh38]
Chr9:139402515..139402516 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3511-15C>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002640216] |
Chr9:136507452 [GRCh38]
Chr9:139401904 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1277C>T (p.Ala426Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002785769] |
Chr9:136517916 [GRCh38]
Chr9:139412368 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.5018+5G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002870899] |
Chr9:136504668 [GRCh38]
Chr9:139399120 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2387C>T (p.Ala796Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002953570]|NOTCH1-related condition [RCV003409987]|not provided [RCV003481353] |
Chr9:136513101 [GRCh38]
Chr9:139407553 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.7001C>G (p.Pro2334Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003039254] |
Chr9:136496738 [GRCh38]
Chr9:139391190 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.804C>A (p.Asn268Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002663144] |
Chr9:136519504 [GRCh38]
Chr9:139413956 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5205C>T (p.His1735=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002622744]|Familial thoracic aortic aneurysm and aortic dissection [RCV003308203]|NOTCH1-related condition [RCV003898463] |
Chr9:136502451 [GRCh38]
Chr9:139396903 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.6254C>T (p.Ala2085Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003036565] |
Chr9:136497485 [GRCh38]
Chr9:139391937 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.2740+15G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003081666] |
Chr9:136510638 [GRCh38]
Chr9:139405090 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7036A>G (p.Met2346Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003081791] |
Chr9:136496703 [GRCh38]
Chr9:139391155 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5952A>G (p.Arg1984=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002889769] |
Chr9:136499242 [GRCh38]
Chr9:139393694 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.199C>T (p.Pro67Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003055681] |
Chr9:136523921 [GRCh38]
Chr9:139418373 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2588-7C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002695930] |
Chr9:136510812 [GRCh38]
Chr9:139405264 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3087C>T (p.Pro1029=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002695912] |
Chr9:136508954 [GRCh38]
Chr9:139403406 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4044C>T (p.Asp1348=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003100599] |
Chr9:136505852 [GRCh38]
Chr9:139400304 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.140+15T>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003052799] |
Chr9:136544009 [GRCh38]
Chr9:139438461 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1821C>T (p.Cys607=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002593152]|Familial thoracic aortic aneurysm and aortic dissection [RCV003167446] |
Chr9:136515565 [GRCh38]
Chr9:139410017 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2369C>T (p.Thr790Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002979598] |
Chr9:136513119 [GRCh38]
Chr9:139407571 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.5342A>G (p.Lys1781Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003077288] |
Chr9:136502314 [GRCh38]
Chr9:139396766 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.2538A>G (p.Gln846=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002999635] |
Chr9:136511201 [GRCh38]
Chr9:139405653 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3814C>T (p.Leu1272=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002910233]|Familial thoracic aortic aneurysm and aortic dissection [RCV003170607] |
Chr9:136506803 [GRCh38]
Chr9:139401255 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.4593G>A (p.Leu1531=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002619520] |
Chr9:136505098 [GRCh38]
Chr9:139399550 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.855A>G (p.Pro285=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002694842] |
Chr9:136519453 [GRCh38]
Chr9:139413905 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.5272C>T (p.Arg1758Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002619506] |
Chr9:136502384 [GRCh38]
Chr9:139396836 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5934+10G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002909846] |
Chr9:136500542 [GRCh38]
Chr9:139394994 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4881C>T (p.Arg1627=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002975727] |
Chr9:136504810 [GRCh38]
Chr9:139399262 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.3171+14C>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002637641] |
Chr9:136508856 [GRCh38]
Chr9:139403308 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6681G>A (p.Pro2227=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003100552] |
Chr9:136497058 [GRCh38]
Chr9:139391510 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.383G>T (p.Arg128Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002885586] |
Chr9:136523737 [GRCh38]
Chr9:139418189 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.3042G>C (p.Thr1014=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002820936] |
Chr9:136508999 [GRCh38]
Chr9:139403451 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4228C>T (p.Pro1410Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002735105] |
Chr9:136505668 [GRCh38]
Chr9:139400120 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5470C>T (p.Arg1824Trp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002619076] |
Chr9:136502003 [GRCh38]
Chr9:139396455 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3143C>A (p.Pro1048His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002695824] |
Chr9:136508898 [GRCh38]
Chr9:139403350 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.61+17C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002927564] |
Chr9:136545709 [GRCh38]
Chr9:139440161 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2740+16del |
deletion |
Adams-Oliver syndrome 5 [RCV002620153] |
Chr9:136510637 [GRCh38]
Chr9:139405089 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1005C>A (p.Asn335Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002780814] |
Chr9:136518685 [GRCh38]
Chr9:139413137 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1347C>T (p.Cys449=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002927601] |
Chr9:136517846 [GRCh38]
Chr9:139412298 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.2806G>C (p.Gly936Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002736145] |
Chr9:136509896 [GRCh38]
Chr9:139404348 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6450G>T (p.Lys2150Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002622703] |
Chr9:136497289 [GRCh38]
Chr9:139391741 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4917C>A (p.Ala1639=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002885164] |
Chr9:136504774 [GRCh38]
Chr9:139399226 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4311G>T (p.Gly1437=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002591438]|Familial thoracic aortic aneurysm and aortic dissection [RCV003161900] |
Chr9:136505585 [GRCh38]
Chr9:139400037 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7177C>G (p.Gln2393Glu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002780892] |
Chr9:136496562 [GRCh38]
Chr9:139391014 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3327T>C (p.Gly1109=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002949011] |
Chr9:136508138 [GRCh38]
Chr9:139402590 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3902-5C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002952970] |
Chr9:136506644 [GRCh38]
Chr9:139401096 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2854G>C (p.Asp952His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003077600] |
Chr9:136509848 [GRCh38]
Chr9:139404300 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.3977C>T (p.Ser1326Phe) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003020071] |
Chr9:136506564 [GRCh38]
Chr9:139401016 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.81C>T (p.Pro27=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003078618] |
Chr9:136544083 [GRCh38]
Chr9:139438535 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4015-6G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002621502] |
Chr9:136505887 [GRCh38]
Chr9:139400339 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5444A>G (p.Asp1815Gly) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003037610] |
Chr9:136502029 [GRCh38]
Chr9:139396481 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.2468-6C>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002927332] |
Chr9:136511277 [GRCh38]
Chr9:139405729 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6773T>C (p.Leu2258Pro) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002619860] |
Chr9:136496966 [GRCh38]
Chr9:139391418 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3551T>C (p.Ile1184Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002705999] |
Chr9:136507397 [GRCh38]
Chr9:139401849 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3919G>A (p.Val1307Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002886189] |
Chr9:136506622 [GRCh38]
Chr9:139401074 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.7455C>G (p.Pro2485=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003078243] |
Chr9:136496284 [GRCh38]
Chr9:139390736 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4932G>C (p.Leu1644=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002886212] |
Chr9:136504759 [GRCh38]
Chr9:139399211 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1505A>G (p.Asn502Ser) |
single nucleotide variant |
Megaloblastic anemia, folate-responsive [RCV002510248] |
Chr9:136517322 [GRCh38]
Chr9:139411774 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1530T>C (p.Asn510=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002979090] |
Chr9:136517297 [GRCh38]
Chr9:139411749 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5064C>G (p.Ala1688=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002979606] |
Chr9:136503285 [GRCh38]
Chr9:139397737 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4520G>A (p.Ser1507Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003081153] |
Chr9:136505376 [GRCh38]
Chr9:139399828 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3087C>A (p.Pro1029=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002691063] |
Chr9:136508954 [GRCh38]
Chr9:139403406 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.830A>G (p.Asn277Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003052851] |
Chr9:136519478 [GRCh38]
Chr9:139413930 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2871G>T (p.Gly957=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002824927] |
Chr9:136509831 [GRCh38]
Chr9:139404283 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.410C>A (p.Ser137Ter) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003055117] |
Chr9:136523182 [GRCh38]
Chr9:139417634 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.4791C>T (p.Ser1597=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003081217] |
Chr9:136504900 [GRCh38]
Chr9:139399352 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5167+20G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002785266] |
Chr9:136503162 [GRCh38]
Chr9:139397614 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.753C>T (p.Gly251=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003054791] |
Chr9:136519555 [GRCh38]
Chr9:139414007 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4902C>T (p.Ala1634=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002637628] |
Chr9:136504789 [GRCh38]
Chr9:139399241 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1670-11C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002644116] |
Chr9:136515727 [GRCh38]
Chr9:139410179 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3016A>T (p.Thr1006Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003024975] |
Chr9:136509025 [GRCh38]
Chr9:139403477 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5806G>T (p.Ala1936Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002851444] |
Chr9:136500680 [GRCh38]
Chr9:139395132 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7507C>T (p.Gln2503Ter) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002852359] |
Chr9:136496232 [GRCh38]
Chr9:139390684 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5168-5C>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002918816] |
Chr9:136502493 [GRCh38]
Chr9:139396945 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.3172-4C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002595127] |
Chr9:136508389 [GRCh38]
Chr9:139402841 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2014+17G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003058823] |
Chr9:136515273 [GRCh38]
Chr9:139409725 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6880C>T (p.Leu2294=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002667066] |
Chr9:136496859 [GRCh38]
Chr9:139391311 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3465G>A (p.Gln1155=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002890374] |
Chr9:136508000 [GRCh38]
Chr9:139402452 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.5472+16C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003084957] |
Chr9:136501985 [GRCh38]
Chr9:139396437 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2631G>C (p.Pro877=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002894176] |
Chr9:136510762 [GRCh38]
Chr9:139405214 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4183A>G (p.Asn1395Asp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002626477] |
Chr9:136505713 [GRCh38]
Chr9:139400165 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.4622G>C (p.Ser1541Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002958158] |
Chr9:136505069 [GRCh38]
Chr9:139399521 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2118G>A (p.Glu706=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002627209] |
Chr9:136514599 [GRCh38]
Chr9:139409051 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5907G>A (p.Val1969=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003084564] |
Chr9:136500579 [GRCh38]
Chr9:139395031 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6740T>C (p.Leu2247Pro) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002627102]|Familial thoracic aortic aneurysm and aortic dissection [RCV003485790] |
Chr9:136496999 [GRCh38]
Chr9:139391451 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.258C>G (p.Ala86=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002983088]|Familial thoracic aortic aneurysm and aortic dissection [RCV003150578] |
Chr9:136523862 [GRCh38]
Chr9:139418314 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5211G>T (p.Met1737Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002765528] |
Chr9:136502445 [GRCh38]
Chr9:139396897 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1904-17A>C |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002624945] |
Chr9:136515417 [GRCh38]
Chr9:139409869 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6219C>G (p.Ser2073Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002829859]|NOTCH1-related condition [RCV003973498] |
Chr9:136497520 [GRCh38]
Chr9:139391972 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1648T>C (p.Tyr550His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002828232] |
Chr9:136516002 [GRCh38]
Chr9:139410454 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1256-16C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003059054] |
Chr9:136517953 [GRCh38]
Chr9:139412405 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6000C>G (p.Ile2000Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002663919] |
Chr9:136499194 [GRCh38]
Chr9:139393646 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3261C>A (p.Ser1087Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002851564] |
Chr9:136508296 [GRCh38]
Chr9:139402748 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7652C>T (p.Pro2551Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003084050] |
Chr9:136496087 [GRCh38]
Chr9:139390539 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.3156T>G (p.Thr1052=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003022764] |
Chr9:136508885 [GRCh38]
Chr9:139403337 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5935-19G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002985487] |
Chr9:136499278 [GRCh38]
Chr9:139393730 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4586+11G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002985493] |
Chr9:136505299 [GRCh38]
Chr9:139399751 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3692C>A (p.Pro1231His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003040305] |
Chr9:136506925 [GRCh38]
Chr9:139401377 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4878G>A (p.Leu1626=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002929063] |
Chr9:136504813 [GRCh38]
Chr9:139399265 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6598G>A (p.Val2200Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002802007] |
Chr9:136497141 [GRCh38]
Chr9:139391593 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4480C>T (p.Leu1494=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003083610] |
Chr9:136505416 [GRCh38]
Chr9:139399868 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.607C>T (p.Arg203Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002766443]|not provided [RCV003238906] |
Chr9:136522985 [GRCh38]
Chr9:139417437 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2741-7C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002741195] |
Chr9:136509968 [GRCh38]
Chr9:139404420 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2491G>A (p.Ala831Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003082986] |
Chr9:136511248 [GRCh38]
Chr9:139405700 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1059T>C (p.Arg353=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002928644] |
Chr9:136518631 [GRCh38]
Chr9:139413083 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6138G>A (p.Val2046=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002574665] |
Chr9:136498941 [GRCh38]
Chr9:139393393 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5256C>T (p.Cys1752=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002890456]|Familial thoracic aortic aneurysm and aortic dissection [RCV003167870] |
Chr9:136502400 [GRCh38]
Chr9:139396852 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2410G>C (p.Gly804Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002593473] |
Chr9:136513078 [GRCh38]
Chr9:139407530 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4982G>A (p.Arg1661Gln) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002594021] |
Chr9:136504709 [GRCh38]
Chr9:139399161 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.1740C>T (p.Cys580=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003057802] |
Chr9:136515646 [GRCh38]
Chr9:139410098 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5944C>T (p.Arg1982Trp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003082385] |
Chr9:136499250 [GRCh38]
Chr9:139393702 [GRCh37]
Chr9:9q34.3 |
likely benign |
| GRCh38/hg38 9q34.3(chr9:134962336-137240181)x1 |
copy number loss |
See cases [RCV002640756] |
Chr9:134962336..137240181 [GRCh38]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.6252T>C (p.Phe2084=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002623366] |
Chr9:136497487 [GRCh38]
Chr9:139391939 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.924C>G (p.Asn308Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002741114] |
Chr9:136518766 [GRCh38]
Chr9:139413218 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4214C>T (p.Pro1405Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002624539] |
Chr9:136505682 [GRCh38]
Chr9:139400134 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1255+14C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002917589] |
Chr9:136518123 [GRCh38]
Chr9:139412575 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5180A>G (p.Glu1727Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002827385] |
Chr9:136502476 [GRCh38]
Chr9:139396928 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1555+11C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002871956] |
Chr9:136517261 [GRCh38]
Chr9:139411713 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2353+16G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002890281] |
Chr9:136513376 [GRCh38]
Chr9:139407828 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3328G>A (p.Val1110Ile) |
single nucleotide variant |
not provided [RCV002508611] |
Chr9:136508137 [GRCh38]
Chr9:139402589 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5019-3C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003083917] |
Chr9:136503333 [GRCh38]
Chr9:139397785 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1715C>A (p.Pro572His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002626529] |
Chr9:136515671 [GRCh38]
Chr9:139410123 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.5472+18C>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002929093] |
Chr9:136501983 [GRCh38]
Chr9:139396435 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5137A>G (p.Asn1713Asp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002624517] |
Chr9:136503212 [GRCh38]
Chr9:139397664 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6771G>C (p.Ala2257=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002667067] |
Chr9:136496968 [GRCh38]
Chr9:139391420 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.743-12C>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002593645] |
Chr9:136519577 [GRCh38]
Chr9:139414029 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2353+11T>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003082011] |
Chr9:136513381 [GRCh38]
Chr9:139407833 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5388C>T (p.Pro1796=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002872078] |
Chr9:136502085 [GRCh38]
Chr9:139396537 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2046T>C (p.Cys682=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003006420] |
Chr9:136514671 [GRCh38]
Chr9:139409123 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.6157A>G (p.Asn2053Asp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003057801] |
Chr9:136498922 [GRCh38]
Chr9:139393374 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5167+18C>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002933115] |
Chr9:136503164 [GRCh38]
Chr9:139397616 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6116A>G (p.Asn2039Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002954133] |
Chr9:136498963 [GRCh38]
Chr9:139393415 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1099+1G>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003043366]|Inborn genetic diseases [RCV003358056] |
Chr9:136518590 [GRCh38]
Chr9:139413042 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic |
| NM_017617.5(NOTCH1):c.1904-20G>C |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002932159]|not specified [RCV003331401] |
Chr9:136515420 [GRCh38]
Chr9:139409872 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5639-14C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002572507] |
Chr9:136500861 [GRCh38]
Chr9:139395313 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2354-16G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002623594] |
Chr9:136513150 [GRCh38]
Chr9:139407602 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6639G>A (p.Val2213=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002595628] |
Chr9:136497100 [GRCh38]
Chr9:139391552 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7261G>T (p.Val2421Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002894220] |
Chr9:136496478 [GRCh38]
Chr9:139390930 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3796G>A (p.Gly1266Arg) |
single nucleotide variant |
not provided [RCV002508428] |
Chr9:136506821 [GRCh38]
Chr9:139401273 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5814C>T (p.Tyr1938=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003057984] |
Chr9:136500672 [GRCh38]
Chr9:139395124 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5591A>G (p.Gln1864Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003025812] |
Chr9:136501795 [GRCh38]
Chr9:139396247 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4356C>A (p.Pro1452=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003058805] |
Chr9:136505540 [GRCh38]
Chr9:139399992 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.436_450dup (p.Ala150_Asn151insSerAsnProCysAla) |
duplication |
Adams-Oliver syndrome 5 [RCV003084883] |
Chr9:136523141..136523142 [GRCh38]
Chr9:139417593..139417594 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2014+10C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002710360] |
Chr9:136515280 [GRCh38]
Chr9:139409732 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1441+11del |
deletion |
Adams-Oliver syndrome 5 [RCV002643627] |
Chr9:136517741 [GRCh38]
Chr9:139412193 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3511-13G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002644324] |
Chr9:136507450 [GRCh38]
Chr9:139401902 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2296G>C (p.Gly766Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002710416] |
Chr9:136513449 [GRCh38]
Chr9:139407901 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5680G>A (p.Gly1894Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003042333] |
Chr9:136500806 [GRCh38]
Chr9:139395258 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4685C>A (p.Ala1562Glu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003023072] |
Chr9:136505006 [GRCh38]
Chr9:139399458 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6735G>A (p.Gly2245=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003057705] |
Chr9:136497004 [GRCh38]
Chr9:139391456 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.1363G>A (p.Glu455Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003056294] |
Chr9:136517830 [GRCh38]
Chr9:139412282 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6130G>T (p.Ala2044Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002624820] |
Chr9:136498949 [GRCh38]
Chr9:139393401 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6070G>A (p.Val2024Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002625290] |
Chr9:136499124 [GRCh38]
Chr9:139393576 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.1903+14C>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003058223] |
Chr9:136515469 [GRCh38]
Chr9:139409921 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6793G>C (p.Ala2265Pro) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002574848] |
Chr9:136496946 [GRCh38]
Chr9:139391398 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4749G>A (p.Glu1583=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002766807] |
Chr9:136504942 [GRCh38]
Chr9:139399394 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1474G>A (p.Asp492Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002712147] |
Chr9:136517353 [GRCh38]
Chr9:139411805 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1768C>T (p.Leu590Phe) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002624466] |
Chr9:136515618 [GRCh38]
Chr9:139410070 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.743-5G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002962842] |
Chr9:136519570 [GRCh38]
Chr9:139414022 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1549C>G (p.Pro517Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002835762] |
Chr9:136517278 [GRCh38]
Chr9:139411730 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7475C>T (p.Ser2492Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003061346]|Familial thoracic aortic aneurysm and aortic dissection [RCV003384322] |
Chr9:136496264 [GRCh38]
Chr9:139390716 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.619C>T (p.Arg207Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003088079]|NOTCH1-related condition [RCV003404078]|not provided [RCV003161788] |
Chr9:136522973 [GRCh38]
Chr9:139417425 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2414C>T (p.Thr805Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002651406] |
Chr9:136513074 [GRCh38]
Chr9:139407526 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.105G>C (p.Gly35=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002720887] |
Chr9:136544059 [GRCh38]
Chr9:139438511 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7120G>T (p.Ala2374Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002938612] |
Chr9:136496619 [GRCh38]
Chr9:139391071 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.214G>A (p.Gly72Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003088216] |
Chr9:136523906 [GRCh38]
Chr9:139418358 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1679G>A (p.Gly560Glu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003048615] |
Chr9:136515707 [GRCh38]
Chr9:139410159 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.478G>A (p.Ala160Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002581603] |
Chr9:136523114 [GRCh38]
Chr9:139417566 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.6298A>G (p.Ile2100Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002629649]|NOTCH1-related condition [RCV003404128] |
Chr9:136497441 [GRCh38]
Chr9:139391893 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2466A>G (p.Thr822=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002938004] |
Chr9:136513022 [GRCh38]
Chr9:139407474 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1746C>T (p.Asp582=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002939109]|Familial thoracic aortic aneurysm and aortic dissection [RCV003170654] |
Chr9:136515640 [GRCh38]
Chr9:139410092 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.3451C>T (p.Pro1151Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003063690] |
Chr9:136508014 [GRCh38]
Chr9:139402466 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2759dup (p.Ser921fs) |
duplication |
Adams-Oliver syndrome 5 [RCV002720845] |
Chr9:136509942..136509943 [GRCh38]
Chr9:139404394..139404395 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.6180+6C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002895271] |
Chr9:136498893 [GRCh38]
Chr9:139393345 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2314A>C (p.Thr772Pro) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003062106] |
Chr9:136513431 [GRCh38]
Chr9:139407883 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4927G>C (p.Ala1643Pro) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002577309] |
Chr9:136504764 [GRCh38]
Chr9:139399216 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6083-3C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002628955] |
Chr9:136498999 [GRCh38]
Chr9:139393451 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.721C>T (p.His241Tyr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002647837] |
Chr9:136522871 [GRCh38]
Chr9:139417323 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1442-17_1442-16del |
deletion |
Adams-Oliver syndrome 5 [RCV002933866] |
Chr9:136517401..136517402 [GRCh38]
Chr9:139411853..139411854 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6090C>G (p.Ser2030=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002646460] |
Chr9:136498989 [GRCh38]
Chr9:139393441 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7532C>A (p.Thr2511Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002833170] |
Chr9:136496207 [GRCh38]
Chr9:139390659 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1669+3G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002899745] |
Chr9:136515978 [GRCh38]
Chr9:139410430 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5161G>A (p.Val1721Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002832987] |
Chr9:136503188 [GRCh38]
Chr9:139397640 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7549C>T (p.Pro2517Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002792055] |
Chr9:136496190 [GRCh38]
Chr9:139390642 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7065T>C (p.Ala2355=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002646287] |
Chr9:136496674 [GRCh38]
Chr9:139391126 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.5639-16G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002933480] |
Chr9:136500863 [GRCh38]
Chr9:139395315 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3901+9C>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002876866] |
Chr9:136506707 [GRCh38]
Chr9:139401159 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4931T>C (p.Leu1644Pro) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002598341] |
Chr9:136504760 [GRCh38]
Chr9:139399212 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.742+12_742+19del |
deletion |
Adams-Oliver syndrome 5 [RCV002962990] |
Chr9:136522831..136522838 [GRCh38]
Chr9:139417283..139417290 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5310_5314dup (p.Gly1772fs) |
duplication |
Adams-Oliver syndrome 5 [RCV003062025] |
Chr9:136502341..136502342 [GRCh38]
Chr9:139396793..139396794 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.3510+17G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003009664]|not provided [RCV003738291] |
Chr9:136507938 [GRCh38]
Chr9:139402390 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6368A>G (p.Gln2123Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002632035] |
Chr9:136497371 [GRCh38]
Chr9:139391823 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.3036C>T (p.Gly1012=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002922054] |
Chr9:136509005 [GRCh38]
Chr9:139403457 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1255+10dup |
duplication |
Adams-Oliver syndrome 5 [RCV003027607] |
Chr9:136518126..136518127 [GRCh38]
Chr9:139412578..139412579 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.277T>G (p.Phe93Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003089506] |
Chr9:136523843 [GRCh38]
Chr9:139418295 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4664A>T (p.Glu1555Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002900258] |
Chr9:136505027 [GRCh38]
Chr9:139399479 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1551C>A (p.Pro517=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002811528] |
Chr9:136517276 [GRCh38]
Chr9:139411728 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4481T>G (p.Leu1494Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002720281] |
Chr9:136505415 [GRCh38]
Chr9:139399867 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4383G>A (p.Lys1461=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002599312] |
Chr9:136505513 [GRCh38]
Chr9:139399965 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6724C>G (p.Leu2242Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003011156]|Familial thoracic aortic aneurysm and aortic dissection [RCV003308407] |
Chr9:136497015 [GRCh38]
Chr9:139391467 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1373C>T (p.Ser458Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003088507] |
Chr9:136517820 [GRCh38]
Chr9:139412272 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4467C>G (p.Asn1489Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002811547] |
Chr9:136505429 [GRCh38]
Chr9:139399881 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2896A>G (p.Ser966Gly) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002647831] |
Chr9:136509806 [GRCh38]
Chr9:139404258 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4675C>A (p.Leu1559Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003029083] |
Chr9:136505016 [GRCh38]
Chr9:139399468 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5298G>A (p.Gln1766=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002895574] |
Chr9:136502358 [GRCh38]
Chr9:139396810 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5181G>A (p.Glu1727=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002937258] |
Chr9:136502475 [GRCh38]
Chr9:139396927 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2181C>T (p.His727=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002646938] |
Chr9:136514536 [GRCh38]
Chr9:139408988 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5934+20G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002938237] |
Chr9:136500532 [GRCh38]
Chr9:139394984 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3510+18G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003029644] |
Chr9:136507937 [GRCh38]
Chr9:139402389 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.140+11C>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002811873] |
Chr9:136544013 [GRCh38]
Chr9:139438465 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2969+9G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002895379] |
Chr9:136509724 [GRCh38]
Chr9:139404176 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3643+16C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003060936] |
Chr9:136507289 [GRCh38]
Chr9:139401741 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.2054A>G (p.Asn685Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003091227] |
Chr9:136514663 [GRCh38]
Chr9:139409115 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1670-7G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003062244] |
Chr9:136515723 [GRCh38]
Chr9:139410175 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.433G>T (p.Ala145Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003044209]|Familial thoracic aortic aneurysm and aortic dissection [RCV003170948] |
Chr9:136523159 [GRCh38]
Chr9:139417611 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2834A>T (p.Asp945Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003029975] |
Chr9:136509868 [GRCh38]
Chr9:139404320 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5384+8G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002601511] |
Chr9:136502264 [GRCh38]
Chr9:139396716 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3936A>C (p.Lys1312Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002895237] |
Chr9:136506605 [GRCh38]
Chr9:139401057 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1945C>T (p.Pro649Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002598606] |
Chr9:136515359 [GRCh38]
Chr9:139409811 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5472+18C>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002770906] |
Chr9:136501983 [GRCh38]
Chr9:139396435 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1555+6G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002599558] |
Chr9:136517266 [GRCh38]
Chr9:139411718 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2014+17G>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003061329] |
Chr9:136515273 [GRCh38]
Chr9:139409725 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2740+12C>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003088385] |
Chr9:136510641 [GRCh38]
Chr9:139405093 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1669+9_1669+10inv |
inversion |
Adams-Oliver syndrome 5 [RCV003064628] |
Chr9:136515971..136515972 [GRCh38]
Chr9:139410423..139410424 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4820A>G (p.Lys1607Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748453]|Inborn genetic diseases [RCV002812748] |
Chr9:136504871 [GRCh38]
Chr9:139399323 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6180+3G>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002835027] |
Chr9:136498896 [GRCh38]
Chr9:139393348 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4587-5C>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002938542] |
Chr9:136505109 [GRCh38]
Chr9:139399561 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.61+18C>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002933679] |
Chr9:136545708 [GRCh38]
Chr9:139440160 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1255+20G>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003009320] |
Chr9:136518117 [GRCh38]
Chr9:139412569 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6055G>A (p.Ala2019Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002672164] |
Chr9:136499139 [GRCh38]
Chr9:139393591 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6181-16C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003086903] |
Chr9:136497574 [GRCh38]
Chr9:139392026 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5191C>A (p.Pro1731Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002601081] |
Chr9:136502465 [GRCh38]
Chr9:139396917 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1256-13G>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002716747] |
Chr9:136517950 [GRCh38]
Chr9:139412402 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.410C>T (p.Ser137Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003088286] |
Chr9:136523182 [GRCh38]
Chr9:139417634 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.2702G>A (p.Gly901Glu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002633741] |
Chr9:136510691 [GRCh38]
Chr9:139405143 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6180+19T>C |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003092786] |
Chr9:136498880 [GRCh38]
Chr9:139393332 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1556-23_1556-20del |
microsatellite |
Adams-Oliver syndrome 5 [RCV002604494] |
Chr9:136516114..136516117 [GRCh38]
Chr9:139410566..139410569 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3394C>T (p.Arg1132Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003066819] |
Chr9:136508071 [GRCh38]
Chr9:139402523 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.760T>C (p.Cys254Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003050396] |
Chr9:136519548 [GRCh38]
Chr9:139414000 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5620G>A (p.Val1874Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002944266] |
Chr9:136501766 [GRCh38]
Chr9:139396218 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.5358C>T (p.Pro1786=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003067420] |
Chr9:136502298 [GRCh38]
Chr9:139396750 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5168G>A (p.Ser1723Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003069028] |
Chr9:136502488 [GRCh38]
Chr9:139396940 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7241C>T (p.Pro2414Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002658073]|not provided [RCV003222439] |
Chr9:136496498 [GRCh38]
Chr9:139390950 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2526G>A (p.Gly842=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003068356] |
Chr9:136511213 [GRCh38]
Chr9:139405665 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.485A>G (p.Tyr162Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003032269] |
Chr9:136523107 [GRCh38]
Chr9:139417559 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.742+12C>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002634129] |
Chr9:136522838 [GRCh38]
Chr9:139417290 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2053A>T (p.Asn685Tyr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003050128] |
Chr9:136514664 [GRCh38]
Chr9:139409116 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1256-9C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002606449] |
Chr9:136517946 [GRCh38]
Chr9:139412398 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4325C>T (p.Pro1442Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003069275]|Familial thoracic aortic aneurysm and aortic dissection [RCV003485814] |
Chr9:136505571 [GRCh38]
Chr9:139400023 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.736C>T (p.Leu246=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002582634] |
Chr9:136522856 [GRCh38]
Chr9:139417308 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6066C>T (p.Asn2022=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002634268] |
Chr9:136499128 [GRCh38]
Chr9:139393580 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.140+14C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002635697] |
Chr9:136544010 [GRCh38]
Chr9:139438462 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5333C>T (p.Ala1778Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003092242] |
Chr9:136502323 [GRCh38]
Chr9:139396775 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4891A>G (p.Ile1631Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002943282]|Familial thoracic aortic aneurysm and aortic dissection [RCV003170686] |
Chr9:136504800 [GRCh38]
Chr9:139399252 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2359A>C (p.Asn787His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003068357] |
Chr9:136513129 [GRCh38]
Chr9:139407581 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.3907C>T (p.Arg1303Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003050732] |
Chr9:136506634 [GRCh38]
Chr9:139401086 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2051G>C (p.Gly684Ala) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003032218] |
Chr9:136514666 [GRCh38]
Chr9:139409118 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1047C>T (p.Thr349=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003092534] |
Chr9:136518643 [GRCh38]
Chr9:139413095 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4587-12C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003052764] |
Chr9:136505116 [GRCh38]
Chr9:139399568 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4597G>A (p.Asp1533Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003052766] |
Chr9:136505094 [GRCh38]
Chr9:139399546 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.5340G>C (p.Lys1780Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002723410] |
Chr9:136502316 [GRCh38]
Chr9:139396768 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.865+11G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002607346] |
Chr9:136519432 [GRCh38]
Chr9:139413884 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7314G>A (p.Pro2438=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002942353] |
Chr9:136496425 [GRCh38]
Chr9:139390877 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.403+3G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002606469] |
Chr9:136523714 [GRCh38]
Chr9:139418166 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3912C>T (p.Cys1304=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002606477] |
Chr9:136506629 [GRCh38]
Chr9:139401081 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1218C>G (p.Gly406=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003070442] |
Chr9:136518174 [GRCh38]
Chr9:139412626 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3900C>G (p.Thr1300=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002603346] |
Chr9:136506717 [GRCh38]
Chr9:139401169 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1904-20G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003068680] |
Chr9:136515420 [GRCh38]
Chr9:139409872 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6065A>G (p.Asn2022Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003093417]|Familial thoracic aortic aneurysm and aortic dissection [RCV003161739] |
Chr9:136499129 [GRCh38]
Chr9:139393581 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4586+14G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003069543] |
Chr9:136505296 [GRCh38]
Chr9:139399748 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2467+17dup |
duplication |
Adams-Oliver syndrome 5 [RCV003052687] |
Chr9:136513003..136513004 [GRCh38]
Chr9:139407455..139407456 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.5961C>T (p.Asp1987=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002942692] |
Chr9:136499233 [GRCh38]
Chr9:139393685 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.1899C>G (p.Thr633=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002590022] |
Chr9:136515487 [GRCh38]
Chr9:139409939 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4021G>A (p.Glu1341Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003068027] |
Chr9:136505875 [GRCh38]
Chr9:139400327 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.3913G>C (p.Glu1305Gln) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002814723] |
Chr9:136506628 [GRCh38]
Chr9:139401080 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2447A>G (p.Asn816Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003073456] |
Chr9:136513041 [GRCh38]
Chr9:139407493 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2661C>T (p.Thr887=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003072334]|Familial thoracic aortic aneurysm and aortic dissection [RCV003274213] |
Chr9:136510732 [GRCh38]
Chr9:139405184 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5612G>T (p.Cys1871Phe) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002610937] |
Chr9:136501774 [GRCh38]
Chr9:139396226 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6923G>T (p.Cys2308Phe) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002610964] |
Chr9:136496816 [GRCh38]
Chr9:139391268 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6430G>A (p.Gly2144Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003071437] |
Chr9:136497309 [GRCh38]
Chr9:139391761 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.6810_6812del (p.Pro2271del) |
deletion |
Adams-Oliver syndrome 5 [RCV002611141] |
Chr9:136496927..136496929 [GRCh38]
Chr9:139391379..139391381 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2481G>A (p.Glu827=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003071795] |
Chr9:136511258 [GRCh38]
Chr9:139405710 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6181-5C>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002588852] |
Chr9:136497563 [GRCh38]
Chr9:139392015 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4761C>G (p.Asn1587Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002584003] |
Chr9:136504930 [GRCh38]
Chr9:139399382 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4643G>A (p.Gly1548Asp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003072096]|not provided [RCV003317647] |
Chr9:136505048 [GRCh38]
Chr9:139399500 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5766C>A (p.Asn1922Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002725414] |
Chr9:136500720 [GRCh38]
Chr9:139395172 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.240A>G (p.Arg80=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002584236] |
Chr9:136523880 [GRCh38]
Chr9:139418332 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5751C>T (p.Gly1917=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003072377] |
Chr9:136500735 [GRCh38]
Chr9:139395187 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.404-6C>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002612008] |
Chr9:136523194 [GRCh38]
Chr9:139417646 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.403+19C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002653728] |
Chr9:136523698 [GRCh38]
Chr9:139418150 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2841C>T (p.Asn947=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002587606]|Familial thoracic aortic aneurysm and aortic dissection [RCV003167444] |
Chr9:136509861 [GRCh38]
Chr9:139404313 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.3510+9C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003072659] |
Chr9:136507946 [GRCh38]
Chr9:139402398 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6884A>G (p.Asn2295Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003051987] |
Chr9:136496855 [GRCh38]
Chr9:139391307 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.1871C>G (p.Ala624Gly) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002606620] |
Chr9:136515515 [GRCh38]
Chr9:139409967 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6111C>A (p.Ala2037=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002612367] |
Chr9:136498968 [GRCh38]
Chr9:139393420 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3901+20G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002943286] |
Chr9:136506696 [GRCh38]
Chr9:139401148 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2550T>C (p.Tyr850=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003150687] |
Chr9:136511189 [GRCh38]
Chr9:139405641 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4297G>A (p.Gly1433Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003073196] |
Chr9:136505599 [GRCh38]
Chr9:139400051 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6557G>T (p.Gly2186Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002612559]|not provided [RCV003128961] |
Chr9:136497182 [GRCh38]
Chr9:139391634 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.1255+19G>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV002612709] |
Chr9:136518118 [GRCh38]
Chr9:139412570 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4901CCG[1] (p.Ala1635del) |
microsatellite |
Familial thoracic aortic aneurysm and aortic dissection [RCV003150618] |
Chr9:136504785..136504787 [GRCh38]
Chr9:139399237..139399239 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1609T>G (p.Cys537Gly) |
single nucleotide variant |
not provided [RCV003131817] |
Chr9:136516041 [GRCh38]
Chr9:139410493 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4963G>C (p.Gly1655Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003278135] |
Chr9:136504728 [GRCh38]
Chr9:139399180 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5903C>T (p.Ala1968Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003172270] |
Chr9:136500583 [GRCh38]
Chr9:139395035 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.16G>T (p.Ala6Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003172271] |
Chr9:136545771 [GRCh38]
Chr9:139440223 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4233C>T (p.Phe1411=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003172272] |
Chr9:136505663 [GRCh38]
Chr9:139400115 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5625T>C (p.Asn1875=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003172273] |
Chr9:136501761 [GRCh38]
Chr9:139396213 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7019C>T (p.Pro2340Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003172274] |
Chr9:136496720 [GRCh38]
Chr9:139391172 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4389C>T (p.Cys1463=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748468]|Familial thoracic aortic aneurysm and aortic dissection [RCV003172283] |
Chr9:136505507 [GRCh38]
Chr9:139399959 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3326-3C>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003172284] |
Chr9:136508142 [GRCh38]
Chr9:139402594 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5118C>G (p.Leu1706=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003172285] |
Chr9:136503231 [GRCh38]
Chr9:139397683 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2374A>C (p.Ile792Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003172286] |
Chr9:136513114 [GRCh38]
Chr9:139407566 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2708A>C (p.Asn903Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003172289] |
Chr9:136510685 [GRCh38]
Chr9:139405137 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.946C>T (p.His316Tyr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003172290] |
Chr9:136518744 [GRCh38]
Chr9:139413196 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2566G>T (p.Val856Phe) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003172291] |
Chr9:136511173 [GRCh38]
Chr9:139405625 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3456C>G (p.Ser1152Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003172292] |
Chr9:136508009 [GRCh38]
Chr9:139402461 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4949C>A (p.Ala1650Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003172293] |
Chr9:136504742 [GRCh38]
Chr9:139399194 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6806G>A (p.Gly2269Asp) |
single nucleotide variant |
not provided [RCV003133042] |
Chr9:136496933 [GRCh38]
Chr9:139391385 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3171+3G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003778736]|not provided [RCV003133044] |
Chr9:136508867 [GRCh38]
Chr9:139403319 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5525A>G (p.Gln1842Arg) |
single nucleotide variant |
not provided [RCV003221600] |
Chr9:136501861 [GRCh38]
Chr9:139396313 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.140+2T>A |
single nucleotide variant |
not provided [RCV003223323] |
Chr9:136544022 [GRCh38]
Chr9:139438474 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.2740+5G>A |
single nucleotide variant |
not provided [RCV003133040] |
Chr9:136510648 [GRCh38]
Chr9:139405100 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2518A>C (p.Asn840His) |
single nucleotide variant |
Inborn genetic diseases [RCV003209188] |
Chr9:136511221 [GRCh38]
Chr9:139405673 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6167T>C (p.Met2056Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003172267] |
Chr9:136498912 [GRCh38]
Chr9:139393364 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6799G>C (p.Glu2267Gln) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003172268] |
Chr9:136496940 [GRCh38]
Chr9:139391392 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3201C>A (p.Pro1067=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003172269] |
Chr9:136508356 [GRCh38]
Chr9:139402808 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6343G>C (p.Glu2115Gln) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003172287] |
Chr9:136497396 [GRCh38]
Chr9:139391848 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5166G>C (p.Gln1722His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003172288] |
Chr9:136503183 [GRCh38]
Chr9:139397635 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5297A>G (p.Gln1766Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748473]|not provided [RCV003225346] |
Chr9:136502359 [GRCh38]
Chr9:139396811 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7556dup (p.Trp2520fs) |
duplication |
not provided [RCV003133043] |
Chr9:136496182..136496183 [GRCh38]
Chr9:139390634..139390635 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1489A>G (p.Ser497Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003195045] |
Chr9:136517338 [GRCh38]
Chr9:139411790 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6800A>G (p.Glu2267Gly) |
single nucleotide variant |
not provided [RCV003159385] |
Chr9:136496939 [GRCh38]
Chr9:139391391 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2969+1G>T |
single nucleotide variant |
Cholesteatoma of middle ear [RCV003159079] |
Chr9:136509732 [GRCh38]
Chr9:139404184 [GRCh37]
Chr9:9q34.3 |
other |
| NM_017617.5(NOTCH1):c.5995C>T (p.Leu1999=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748459]|Familial thoracic aortic aneurysm and aortic dissection [RCV003150617] |
Chr9:136499199 [GRCh38]
Chr9:139393651 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7627A>G (p.Met2543Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003199496] |
Chr9:136496112 [GRCh38]
Chr9:139390564 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4797G>C (p.Val1599=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748466]|Familial thoracic aortic aneurysm and aortic dissection [RCV003172276] |
Chr9:136504894 [GRCh38]
Chr9:139399346 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.5603A>T (p.Asp1868Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748467]|Familial thoracic aortic aneurysm and aortic dissection [RCV003172277] |
Chr9:136501783 [GRCh38]
Chr9:139396235 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1146C>A (p.Asn382Lys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003172278] |
Chr9:136518246 [GRCh38]
Chr9:139412698 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7109G>A (p.Ser2370Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003172279] |
Chr9:136496630 [GRCh38]
Chr9:139391082 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1050C>T (p.Cys350=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003172280] |
Chr9:136518640 [GRCh38]
Chr9:139413092 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1982G>C (p.Gly661Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003172281] |
Chr9:136515322 [GRCh38]
Chr9:139409774 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7116G>A (p.Arg2372=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003172282] |
Chr9:136496623 [GRCh38]
Chr9:139391075 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2899T>A (p.Tyr967Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003208931] |
Chr9:136509803 [GRCh38]
Chr9:139404255 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6151G>A (p.Gly2051Arg) |
single nucleotide variant |
not provided [RCV003149524] |
Chr9:136498928 [GRCh38]
Chr9:139393380 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3304G>T (p.Glu1102Ter) |
single nucleotide variant |
Cholesteatoma of middle ear [RCV003159080] |
Chr9:136508253 [GRCh38]
Chr9:139402705 [GRCh37]
Chr9:9q34.3 |
other |
| NM_017617.5(NOTCH1):c.1412T>C (p.Ile471Thr) |
single nucleotide variant |
Cholesteatoma of middle ear [RCV003159081] |
Chr9:136517781 [GRCh38]
Chr9:139412233 [GRCh37]
Chr9:9q34.3 |
other |
| NM_017617.5(NOTCH1):c.5497G>T (p.Asp1833Tyr) |
single nucleotide variant |
not provided [RCV003223784] |
Chr9:136501889 [GRCh38]
Chr9:139396341 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7377G>A (p.Gln2459=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586393]|Familial thoracic aortic aneurysm and aortic dissection [RCV003209053] |
Chr9:136496362 [GRCh38]
Chr9:139390814 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3556G>C (p.Glu1186Gln) |
single nucleotide variant |
Aortic valve disease 1 [RCV003224714] |
Chr9:136507392 [GRCh38]
Chr9:139401844 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5266C>G (p.Leu1756Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003172261]|not provided [RCV003235790] |
Chr9:136502390 [GRCh38]
Chr9:139396842 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4620C>T (p.Phe1540=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003172262] |
Chr9:136505071 [GRCh38]
Chr9:139399523 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4269C>T (p.Leu1423=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003172263] |
Chr9:136505627 [GRCh38]
Chr9:139400079 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5907G>T (p.Val1969=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003172264] |
Chr9:136500579 [GRCh38]
Chr9:139395031 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7124C>T (p.Thr2375Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003172265] |
Chr9:136496615 [GRCh38]
Chr9:139391067 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5712G>A (p.Glu1904=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003172266] |
Chr9:136500774 [GRCh38]
Chr9:139395226 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6881T>C (p.Leu2294Pro) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003172275] |
Chr9:136496858 [GRCh38]
Chr9:139391310 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6591C>T (p.Leu2197=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003176313] |
Chr9:136497148 [GRCh38]
Chr9:139391600 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.137G>A (p.Cys46Tyr) |
single nucleotide variant |
not provided [RCV003225302] |
Chr9:136544027 [GRCh38]
Chr9:139438479 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3326-12C>T |
single nucleotide variant |
not specified [RCV003324202] |
Chr9:136508151 [GRCh38]
Chr9:139402603 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1806C>A (p.Thr602=) |
single nucleotide variant |
not provided [RCV003324912] |
Chr9:136515580 [GRCh38]
Chr9:139410032 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.968G>A (p.Cys323Tyr) |
single nucleotide variant |
not provided [RCV003319899] |
Chr9:136518722 [GRCh38]
Chr9:139413174 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7096C>T (p.Gln2366Ter) |
single nucleotide variant |
Aortic valve disease 1 [RCV003319954] |
Chr9:136496643 [GRCh38]
Chr9:139391095 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.6152G>A (p.Gly2051Glu) |
single nucleotide variant |
not provided [RCV003327793] |
Chr9:136498927 [GRCh38]
Chr9:139393379 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5473-12C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003852750] |
Chr9:136501925 [GRCh38]
Chr9:139396377 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3984C>T (p.Thr1328=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003777133]|Familial thoracic aortic aneurysm and aortic dissection [RCV003310342] |
Chr9:136506557 [GRCh38]
Chr9:139401009 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.6946A>G (p.Ser2316Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003310343] |
Chr9:136496793 [GRCh38]
Chr9:139391245 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4548C>G (p.Phe1516Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748477]|Familial thoracic aortic aneurysm and aortic dissection [RCV003310344] |
Chr9:136505348 [GRCh38]
Chr9:139399800 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.4692T>C (p.His1564=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586402]|Familial thoracic aortic aneurysm and aortic dissection [RCV003310346] |
Chr9:136504999 [GRCh38]
Chr9:139399451 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.4032G>A (p.Thr1344=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003777134]|Familial thoracic aortic aneurysm and aortic dissection [RCV003310347] |
Chr9:136505864 [GRCh38]
Chr9:139400316 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4533A>G (p.Ser1511=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003306650] |
Chr9:136505363 [GRCh38]
Chr9:139399815 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.404G>C (p.Gly135Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003306651] |
Chr9:136523188 [GRCh38]
Chr9:139417640 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1209G>T (p.Gly403=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003306652] |
Chr9:136518183 [GRCh38]
Chr9:139412635 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2847T>C (p.Cys949=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003306654] |
Chr9:136509855 [GRCh38]
Chr9:139404307 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4014+3A>G |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003306656] |
Chr9:136506524 [GRCh38]
Chr9:139400976 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2626A>G (p.Ser876Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003306657]|not specified [RCV003479510] |
Chr9:136510767 [GRCh38]
Chr9:139405219 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.7410C>G (p.Ser2470=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003306658] |
Chr9:136496329 [GRCh38]
Chr9:139390781 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1119C>T (p.Asn373=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586407]|Familial thoracic aortic aneurysm and aortic dissection [RCV003306659] |
Chr9:136518273 [GRCh38]
Chr9:139412725 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.6192C>A (p.Pro2064=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003306660] |
Chr9:136497547 [GRCh38]
Chr9:139391999 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2541C>G (p.Ser847=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003306661] |
Chr9:136511198 [GRCh38]
Chr9:139405650 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1640C>T (p.Pro547Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003306662] |
Chr9:136516010 [GRCh38]
Chr9:139410462 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4696C>T (p.Pro1566Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003306664] |
Chr9:136504995 [GRCh38]
Chr9:139399447 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.985G>A (p.Gly329Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003306665] |
Chr9:136518705 [GRCh38]
Chr9:139413157 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5273G>T (p.Arg1758Leu) |
single nucleotide variant |
not provided [RCV003329928] |
Chr9:136502383 [GRCh38]
Chr9:139396835 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3282C>A (p.Cys1094Ter) |
single nucleotide variant |
Aortic valve disease 1 [RCV003326287]|Aortic valve disease 1 [RCV003985881] |
Chr9:136508275 [GRCh38]
Chr9:139402727 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.1873T>C (p.Tyr625His) |
single nucleotide variant |
not provided [RCV003329944] |
Chr9:136515513 [GRCh38]
Chr9:139409965 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2842G>T (p.Glu948Ter) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003326716] |
Chr9:136509860 [GRCh38]
Chr9:139404312 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.3176T>C (p.Leu1059Pro) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003341821] |
Chr9:136508381 [GRCh38]
Chr9:139402833 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6583G>C (p.Gly2195Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003341826] |
Chr9:136497156 [GRCh38]
Chr9:139391608 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4836C>G (p.Gly1612=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003341813] |
Chr9:136504855 [GRCh38]
Chr9:139399307 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.87G>T (p.Glu29Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003341810] |
Chr9:136544077 [GRCh38]
Chr9:139438529 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4131C>A (p.Pro1377=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003341820] |
Chr9:136505765 [GRCh38]
Chr9:139400217 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.249A>G (p.Ala83=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003341823] |
Chr9:136523871 [GRCh38]
Chr9:139418323 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4325C>G (p.Pro1442Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003341825]|not provided [RCV003481491] |
Chr9:136505571 [GRCh38]
Chr9:139400023 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2461T>C (p.Tyr821His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003341827] |
Chr9:136513027 [GRCh38]
Chr9:139407479 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.602C>T (p.Ser201Phe) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003358412] |
Chr9:136522990 [GRCh38]
Chr9:139417442 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3238C>G (p.Gln1080Glu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003358411] |
Chr9:136508319 [GRCh38]
Chr9:139402771 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.483C>T (p.Ser161=) |
single nucleotide variant |
not specified [RCV003331758] |
Chr9:136523109 [GRCh38]
Chr9:139417561 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4964G>A (p.Gly1655Asp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748490]|Familial thoracic aortic aneurysm and aortic dissection [RCV003387036] |
Chr9:136504727 [GRCh38]
Chr9:139399179 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2954C>T (p.Pro985Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003377219] |
Chr9:136509748 [GRCh38]
Chr9:139404200 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2176G>A (p.Val726Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586412]|Familial thoracic aortic aneurysm and aortic dissection [RCV003350290] |
Chr9:136514541 [GRCh38]
Chr9:139408993 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_017617.5(NOTCH1):c.6594G>A (p.Ser2198=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003350345] |
Chr9:136497145 [GRCh38]
Chr9:139391597 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4608C>G (p.Cys1536Trp) |
single nucleotide variant |
Aortic valve disease 1 [RCV003333412] |
Chr9:136505083 [GRCh38]
Chr9:139399535 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5923G>A (p.Gly1975Ser) |
single nucleotide variant |
Aortic valve disease 1 [RCV003333458] |
Chr9:136500563 [GRCh38]
Chr9:139395015 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.304C>T (p.Leu102=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003873773] |
Chr9:136523816 [GRCh38]
Chr9:139418268 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2453T>C (p.Leu818Pro) |
single nucleotide variant |
not provided [RCV003457175] |
Chr9:136513035 [GRCh38]
Chr9:139407487 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2969+2TG[3] |
microsatellite |
Adams-Oliver syndrome 5 [RCV003874894] |
Chr9:136509727..136509728 [GRCh38]
Chr9:139404179..139404180 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1078G>A (p.Glu360Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003874895] |
Chr9:136518612 [GRCh38]
Chr9:139413064 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.977dup (p.Trp327fs) |
duplication |
not provided [RCV003480485] |
Chr9:136518712..136518713 [GRCh38]
Chr9:139413164..139413165 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.6620A>G (p.His2207Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003825394] |
Chr9:136497119 [GRCh38]
Chr9:139391571 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.742+13G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003872684] |
Chr9:136522837 [GRCh38]
Chr9:139417289 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6538A>G (p.Arg2180Gly) |
single nucleotide variant |
NOTCH1-related condition [RCV003391471] |
Chr9:136497201 [GRCh38]
Chr9:139391653 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5557C>T (p.Leu1853=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003872717] |
Chr9:136501829 [GRCh38]
Chr9:139396281 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3856C>T (p.Gln1286Ter) |
single nucleotide variant |
NOTCH1-related condition [RCV003408601] |
Chr9:136506761 [GRCh38]
Chr9:139401213 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.6776G>T (p.Gly2259Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003388258] |
Chr9:136496963 [GRCh38]
Chr9:139391415 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| GRCh37/hg19 9q34.2-34.3(chr9:136988996-141020389)x3 |
copy number gain |
not provided [RCV003484786] |
Chr9:136988996..141020389 [GRCh37]
Chr9:9q34.2-34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.3684del (p.Val1229fs) |
deletion |
Adams-Oliver syndrome 5 [RCV003458329] |
Chr9:136506933 [GRCh38]
Chr9:139401385 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.503C>A (p.Pro168His) |
single nucleotide variant |
not provided [RCV003425873] |
Chr9:136523089 [GRCh38]
Chr9:139417541 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.719C>T (p.Thr240Ile) |
single nucleotide variant |
not provided [RCV003441434] |
Chr9:136522873 [GRCh38]
Chr9:139417325 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.751G>C (p.Gly251Arg) |
single nucleotide variant |
not provided [RCV003481960] |
Chr9:136519557 [GRCh38]
Chr9:139414009 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2794G>A (p.Asp932Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748932] |
Chr9:136509908 [GRCh38]
Chr9:139404360 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1506T>A (p.Asn502Lys) |
single nucleotide variant |
NOTCH1-related condition [RCV003400157] |
Chr9:136517321 [GRCh38]
Chr9:139411773 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.678C>T (p.Pro226=) |
single nucleotide variant |
not provided [RCV003430411] |
Chr9:136522914 [GRCh38]
Chr9:139417366 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5472+8G>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748495]|not provided [RCV003430407] |
Chr9:136501993 [GRCh38]
Chr9:139396445 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7098G>C (p.Gln2366His) |
single nucleotide variant |
not provided [RCV003457580] |
Chr9:136496641 [GRCh38]
Chr9:139391093 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4266G>A (p.Gly1422=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586421]|NOTCH1-related condition [RCV003954209]|not provided [RCV003425872] |
Chr9:136505630 [GRCh38]
Chr9:139400082 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2330G>A (p.Cys777Tyr) |
single nucleotide variant |
NOTCH1-related condition [RCV003404395] |
Chr9:136513415 [GRCh38]
Chr9:139407867 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7485C>A (p.Asp2495Glu) |
single nucleotide variant |
NOTCH1-related condition [RCV003394437] |
Chr9:136496254 [GRCh38]
Chr9:139390706 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1336G>T (p.Gly446Cys) |
single nucleotide variant |
not provided [RCV003443885] |
Chr9:136517857 [GRCh38]
Chr9:139412309 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2436del (p.Tyr813fs) |
deletion |
NOTCH1-related condition [RCV003400029] |
Chr9:136513052 [GRCh38]
Chr9:139407504 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.4821G>A (p.Lys1607=) |
single nucleotide variant |
not provided [RCV003430408] |
Chr9:136504870 [GRCh38]
Chr9:139399322 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3813C>T (p.Cys1271=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586422]|NOTCH1-related condition [RCV003966437]|not provided [RCV003430409] |
Chr9:136506804 [GRCh38]
Chr9:139401256 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2561C>T (p.Ser854Phe) |
single nucleotide variant |
not provided [RCV003430410] |
Chr9:136511178 [GRCh38]
Chr9:139405630 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4315_4318dup (p.Ile1440fs) |
duplication |
NOTCH1-related condition [RCV003408365] |
Chr9:136505577..136505578 [GRCh38]
Chr9:139400029..139400030 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.3997A>G (p.Ile1333Val) |
single nucleotide variant |
NOTCH1-related condition [RCV003408412] |
Chr9:136506544 [GRCh38]
Chr9:139400996 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2536C>T (p.Gln846Ter) |
single nucleotide variant |
NOTCH1-related condition [RCV003404425] |
Chr9:136511203 [GRCh38]
Chr9:139405655 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.3424T>C (p.Cys1142Arg) |
single nucleotide variant |
NOTCH1-related condition [RCV003412370] |
Chr9:136508041 [GRCh38]
Chr9:139402493 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7495A>C (p.Ser2499Arg) |
single nucleotide variant |
NOTCH1-related condition [RCV003412402] |
Chr9:136496244 [GRCh38]
Chr9:139390696 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3197C>T (p.Ser1066Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586416]|NOTCH1-related condition [RCV003399609] |
Chr9:136508360 [GRCh38]
Chr9:139402812 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.2049G>C (p.Ala683=) |
single nucleotide variant |
not specified [RCV003404715] |
Chr9:136514668 [GRCh38]
Chr9:139409120 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2354-16G>C |
single nucleotide variant |
not specified [RCV003404885] |
Chr9:136513150 [GRCh38]
Chr9:139407602 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7463A>G (p.His2488Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586415]|NOTCH1-related condition [RCV003397341] |
Chr9:136496276 [GRCh38]
Chr9:139390728 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4906G>T (p.Glu1636Ter) |
single nucleotide variant |
NOTCH1-related condition [RCV003416666] |
Chr9:136504785 [GRCh38]
Chr9:139399237 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.6427A>C (p.Asn2143His) |
single nucleotide variant |
not provided [RCV003430406] |
Chr9:136497312 [GRCh38]
Chr9:139391764 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7232C>G (p.Pro2411Arg) |
single nucleotide variant |
NOTCH1-related condition [RCV003416843] |
Chr9:136496507 [GRCh38]
Chr9:139390959 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1226G>A (p.Cys409Tyr) |
single nucleotide variant |
NOTCH1-related condition [RCV003405897] |
Chr9:136518166 [GRCh38]
Chr9:139412618 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3507C>T (p.Cys1169=) |
single nucleotide variant |
NOTCH1-related condition [RCV003404540] |
Chr9:136507958 [GRCh38]
Chr9:139402410 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6926A>G (p.Glu2309Gly) |
single nucleotide variant |
not provided [RCV003425869] |
Chr9:136496813 [GRCh38]
Chr9:139391265 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5631C>A (p.Arg1877=) |
single nucleotide variant |
not provided [RCV003425871] |
Chr9:136501755 [GRCh38]
Chr9:139396207 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1556-8G>A |
single nucleotide variant |
NOTCH1-related condition [RCV003402430] |
Chr9:136516102 [GRCh38]
Chr9:139410554 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6295G>C (p.Asp2099His) |
single nucleotide variant |
not provided [RCV003425870] |
Chr9:136497444 [GRCh38]
Chr9:139391896 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1537C>T (p.Gln513Ter) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586417]|NOTCH1-related condition [RCV003420876] |
Chr9:136517290 [GRCh38]
Chr9:139411742 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.670C>G (p.Pro224Ala) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586423]|not provided [RCV003442664] |
Chr9:136522922 [GRCh38]
Chr9:139417374 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4368G>A (p.Glu1456=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003831433] |
Chr9:136505528 [GRCh38]
Chr9:139399980 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.5927T>A (p.Val1976Asp) |
single nucleotide variant |
Aortic valve disease 1 [RCV003486372] |
Chr9:136500559 [GRCh38]
Chr9:139395011 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.5739C>T (p.Phe1913=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003878240] |
Chr9:136500747 [GRCh38]
Chr9:139395199 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5472+19G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003879550] |
Chr9:136501982 [GRCh38]
Chr9:139396434 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.140+9C>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003879506] |
Chr9:136544015 [GRCh38]
Chr9:139438467 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5078T>C (p.Phe1693Ser) |
single nucleotide variant |
NOTCH1-related condition [RCV003493382] |
Chr9:136503271 [GRCh38]
Chr9:139397723 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.959A>G (p.Asn320Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003486461] |
Chr9:136518731 [GRCh38]
Chr9:139413183 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6495C>T (p.Gly2165=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003877032] |
Chr9:136497244 [GRCh38]
Chr9:139391696 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2056C>T (p.Pro686Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003875961] |
Chr9:136514661 [GRCh38]
Chr9:139409113 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.260G>A (p.Cys87Tyr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003878061] |
Chr9:136523860 [GRCh38]
Chr9:139418312 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5733C>A (p.Ser1911=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003829223] |
Chr9:136500753 [GRCh38]
Chr9:139395205 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.390G>C (p.Pro130=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003881657] |
Chr9:136523730 [GRCh38]
Chr9:139418182 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4260C>T (p.Phe1420=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003486459] |
Chr9:136505636 [GRCh38]
Chr9:139400088 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3356G>T (p.Gly1119Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003825571] |
Chr9:136508109 [GRCh38]
Chr9:139402561 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4586+17C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003880240] |
Chr9:136505293 [GRCh38]
Chr9:139399745 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4853C>A (p.Pro1618His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003828602] |
Chr9:136504838 [GRCh38]
Chr9:139399290 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5427C>T (p.Asn1809=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003827372] |
Chr9:136502046 [GRCh38]
Chr9:139396498 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.2012C>T (p.Thr671Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003826447] |
Chr9:136515292 [GRCh38]
Chr9:139409744 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.262A>G (p.Ser88Gly) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749116] |
Chr9:136523858 [GRCh38]
Chr9:139418310 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.613G>C (p.Val205Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749415] |
Chr9:136522979 [GRCh38]
Chr9:139417431 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.5019-10G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749641] |
Chr9:136503340 [GRCh38]
Chr9:139397792 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5563A>C (p.Met1855Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749351] |
Chr9:136501823 [GRCh38]
Chr9:139396275 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.553A>C (p.Lys185Gln) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749354] |
Chr9:136523039 [GRCh38]
Chr9:139417491 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6567C>T (p.Cys2189=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749402] |
Chr9:136497172 [GRCh38]
Chr9:139391624 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.902T>C (p.Leu301Pro) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749513] |
Chr9:136518788 [GRCh38]
Chr9:139413240 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6480G>A (p.Lys2160=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749714] |
Chr9:136497259 [GRCh38]
Chr9:139391711 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6365C>G (p.Pro2122Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749962] |
Chr9:136497374 [GRCh38]
Chr9:139391826 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1256-10C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749644] |
Chr9:136517947 [GRCh38]
Chr9:139412399 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3326-13C>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749738] |
Chr9:136508152 [GRCh38]
Chr9:139402604 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6512A>G (p.Lys2171Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749846] |
Chr9:136497227 [GRCh38]
Chr9:139391679 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1698C>G (p.Asp566Glu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748979] |
Chr9:136515688 [GRCh38]
Chr9:139410140 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2172C>G (p.Pro724=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749062] |
Chr9:136514545 [GRCh38]
Chr9:139408997 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.242G>T (p.Gly81Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748972] |
Chr9:136523878 [GRCh38]
Chr9:139418330 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3891T>C (p.Ala1297=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749050] |
Chr9:136506726 [GRCh38]
Chr9:139401178 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4659G>A (p.Glu1553=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749205] |
Chr9:136505032 [GRCh38]
Chr9:139399484 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3667G>T (p.Asp1223Tyr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749129] |
Chr9:136506950 [GRCh38]
Chr9:139401402 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3542C>T (p.Ser1181Phe) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003850738] |
Chr9:136507406 [GRCh38]
Chr9:139401858 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3550A>T (p.Ile1184Phe) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749468] |
Chr9:136507398 [GRCh38]
Chr9:139401850 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2623C>A (p.Leu875Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749505] |
Chr9:136510770 [GRCh38]
Chr9:139405222 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5772A>C (p.Thr1924=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749686] |
Chr9:136500714 [GRCh38]
Chr9:139395166 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6712C>T (p.Pro2238Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749889] |
Chr9:136497027 [GRCh38]
Chr9:139391479 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2354-9T>C |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749945] |
Chr9:136513143 [GRCh38]
Chr9:139407595 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5599G>T (p.Val1867Phe) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003750021] |
Chr9:136501787 [GRCh38]
Chr9:139396239 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4773C>G (p.His1591Gln) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003750223] |
Chr9:136504918 [GRCh38]
Chr9:139399370 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7098G>A (p.Gln2366=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003750249] |
Chr9:136496641 [GRCh38]
Chr9:139391093 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2210A>T (p.Tyr737Phe) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003750272] |
Chr9:136513535 [GRCh38]
Chr9:139407987 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4412C>A (p.Ala1471Glu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003750287] |
Chr9:136505484 [GRCh38]
Chr9:139399936 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3778G>T (p.Val1260Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586475] |
Chr9:136506839 [GRCh38]
Chr9:139401291 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1555+13C>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586481] |
Chr9:136517259 [GRCh38]
Chr9:139411711 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2880C>A (p.Cys960Ter) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586488] |
Chr9:136509822 [GRCh38]
Chr9:139404274 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.3257C>G (p.Pro1086Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586502] |
Chr9:136508300 [GRCh38]
Chr9:139402752 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2208-11C>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586505] |
Chr9:136513548 [GRCh38]
Chr9:139408000 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6651A>C (p.Pro2217=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748930] |
Chr9:136497088 [GRCh38]
Chr9:139391540 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1652C>T (p.Thr551Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748978] |
Chr9:136515998 [GRCh38]
Chr9:139410450 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5934+6C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749034] |
Chr9:136500546 [GRCh38]
Chr9:139394998 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7010C>T (p.Thr2337Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749413] |
Chr9:136496729 [GRCh38]
Chr9:139391181 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2740+18T>C |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749500] |
Chr9:136510635 [GRCh38]
Chr9:139405087 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6181-7C>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749559] |
Chr9:136497565 [GRCh38]
Chr9:139392017 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1105C>T (p.Leu369=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749653] |
Chr9:136518287 [GRCh38]
Chr9:139412739 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.4897C>A (p.Arg1633Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749726] |
Chr9:136504794 [GRCh38]
Chr9:139399246 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5385-7C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749728] |
Chr9:136502095 [GRCh38]
Chr9:139396547 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4112C>T (p.Thr1371Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749760] |
Chr9:136505784 [GRCh38]
Chr9:139400236 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.743-10C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749788] |
Chr9:136519575 [GRCh38]
Chr9:139414027 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1017T>G (p.Cys339Trp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003750059] |
Chr9:136518673 [GRCh38]
Chr9:139413125 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1854C>T (p.Cys618=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003750191] |
Chr9:136515532 [GRCh38]
Chr9:139409984 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.6647C>G (p.Pro2216Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003750214] |
Chr9:136497092 [GRCh38]
Chr9:139391544 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6940C>G (p.Leu2314Val) |
single nucleotide variant |
not provided [RCV003740612] |
Chr9:136496799 [GRCh38]
Chr9:139391251 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3260G>A (p.Ser1087Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003839463] |
Chr9:136508297 [GRCh38]
Chr9:139402749 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6489C>G (p.Ser2163Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003833333] |
Chr9:136497250 [GRCh38]
Chr9:139391702 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7222C>G (p.Leu2408Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586470] |
Chr9:136496517 [GRCh38]
Chr9:139390969 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2587+19C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003838352] |
Chr9:136511133 [GRCh38]
Chr9:139405585 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6351C>T (p.Asn2117=) |
single nucleotide variant |
not provided [RCV003740655] |
Chr9:136497388 [GRCh38]
Chr9:139391840 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.62-17C>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749098] |
Chr9:136544119 [GRCh38]
Chr9:139438571 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3137C>A (p.Thr1046Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749178] |
Chr9:136508904 [GRCh38]
Chr9:139403356 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4587-1G>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749341] |
Chr9:136505105 [GRCh38]
Chr9:139399557 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.1369G>T (p.Val457Phe) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749436] |
Chr9:136517824 [GRCh38]
Chr9:139412276 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6082+3G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749484] |
Chr9:136499109 [GRCh38]
Chr9:139393561 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.788G>T (p.Gly263Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749368] |
Chr9:136519520 [GRCh38]
Chr9:139413972 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6950G>C (p.Gly2317Ala) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749754] |
Chr9:136496789 [GRCh38]
Chr9:139391241 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2033A>G (p.Asn678Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749764] |
Chr9:136514684 [GRCh38]
Chr9:139409136 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3171+6del |
deletion |
Adams-Oliver syndrome 5 [RCV003749980] |
Chr9:136508864 [GRCh38]
Chr9:139403316 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6980G>C (p.Arg2327Pro) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003750038] |
Chr9:136496759 [GRCh38]
Chr9:139391211 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4169C>T (p.Pro1390Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003750174] |
Chr9:136505727 [GRCh38]
Chr9:139400179 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1618G>C (p.Gly540Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003750266] |
Chr9:136516032 [GRCh38]
Chr9:139410484 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2931G>A (p.Gly977=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003750267] |
Chr9:136509771 [GRCh38]
Chr9:139404223 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.5836C>G (p.Arg1946Gly) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003814365] |
Chr9:136500650 [GRCh38]
Chr9:139395102 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4450A>G (p.Asn1484Asp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003851042] |
Chr9:136505446 [GRCh38]
Chr9:139399898 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3000C>T (p.Asp1000=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749053] |
Chr9:136509041 [GRCh38]
Chr9:139403493 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2066A>G (p.Asn689Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749061] |
Chr9:136514651 [GRCh38]
Chr9:139409103 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1904-15G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748970] |
Chr9:136515415 [GRCh38]
Chr9:139409867 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4374G>C (p.Ala1458=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749236] |
Chr9:136505522 [GRCh38]
Chr9:139399974 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5742C>T (p.Ile1914=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749242] |
Chr9:136500744 [GRCh38]
Chr9:139395196 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4221C>T (p.Ser1407=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749388] |
Chr9:136505675 [GRCh38]
Chr9:139400127 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.2318G>A (p.Ser773Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749451] |
Chr9:136513427 [GRCh38]
Chr9:139407879 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7407A>G (p.Pro2469=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749454] |
Chr9:136496332 [GRCh38]
Chr9:139390784 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2970-7C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749610] |
Chr9:136509078 [GRCh38]
Chr9:139403530 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4902C>G (p.Ala1634=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749725] |
Chr9:136504789 [GRCh38]
Chr9:139399241 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2208-10C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749781] |
Chr9:136513547 [GRCh38]
Chr9:139407999 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5559G>A (p.Leu1853=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749791] |
Chr9:136501827 [GRCh38]
Chr9:139396279 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5638+19A>C |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749837] |
Chr9:136501729 [GRCh38]
Chr9:139396181 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2952G>C (p.Thr984=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749914] |
Chr9:136509750 [GRCh38]
Chr9:139404202 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3596T>C (p.Leu1199Pro) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749935] |
Chr9:136507352 [GRCh38]
Chr9:139401804 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.865+8T>C |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003750028] |
Chr9:136519435 [GRCh38]
Chr9:139413887 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3172-14C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003750141] |
Chr9:136508399 [GRCh38]
Chr9:139402851 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.769A>G (p.Asn257Asp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003838113] |
Chr9:136519539 [GRCh38]
Chr9:139413991 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.62-15_62-13del |
deletion |
Adams-Oliver syndrome 5 [RCV003854575] |
Chr9:136544115..136544117 [GRCh38]
Chr9:139438567..139438569 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5899G>A (p.Ala1967Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749091] |
Chr9:136500587 [GRCh38]
Chr9:139395039 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3504C>G (p.Ser1168=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749304] |
Chr9:136507961 [GRCh38]
Chr9:139402413 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4482G>A (p.Leu1494=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749333] |
Chr9:136505414 [GRCh38]
Chr9:139399866 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1627_1669+11del |
deletion |
Adams-Oliver syndrome 5 [RCV003749474] |
Chr9:136515970..136516023 [GRCh38]
Chr9:139410422..139410475 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.2415G>T (p.Thr805=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749555] |
Chr9:136513073 [GRCh38]
Chr9:139407525 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2378A>T (p.Asn793Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749566] |
Chr9:136513110 [GRCh38]
Chr9:139407562 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4021G>T (p.Glu1341Ter) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749621] |
Chr9:136505875 [GRCh38]
Chr9:139400327 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.6647C>T (p.Pro2216Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749649] |
Chr9:136497092 [GRCh38]
Chr9:139391544 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3689A>C (p.Asp1230Ala) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749152] |
Chr9:136506928 [GRCh38]
Chr9:139401380 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4938C>A (p.Gly1646=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749276] |
Chr9:136504753 [GRCh38]
Chr9:139399205 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.5508C>A (p.Asp1836Glu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749238] |
Chr9:136501878 [GRCh38]
Chr9:139396330 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6082+6C>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749827] |
Chr9:136499106 [GRCh38]
Chr9:139393558 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6894G>A (p.Val2298=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003750022] |
Chr9:136496845 [GRCh38]
Chr9:139391297 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4780C>T (p.Arg1594Trp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749732] |
Chr9:136504911 [GRCh38]
Chr9:139399363 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.299C>T (p.Thr100Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749803] |
Chr9:136523821 [GRCh38]
Chr9:139418273 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6197T>G (p.Phe2066Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003750099] |
Chr9:136497542 [GRCh38]
Chr9:139391994 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3890C>T (p.Ala1297Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003750140] |
Chr9:136506727 [GRCh38]
Chr9:139401179 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3792_3793del (p.Cys1264_Glu1265delinsTer) |
microsatellite |
Adams-Oliver syndrome 5 [RCV003750146] |
Chr9:136506824..136506825 [GRCh38]
Chr9:139401276..139401277 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.5906dup (p.Ser1970fs) |
duplication |
Adams-Oliver syndrome 5 [RCV003750157] |
Chr9:136500579..136500580 [GRCh38]
Chr9:139395031..139395032 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.4587-18G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003750181] |
Chr9:136505122 [GRCh38]
Chr9:139399574 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7029G>C (p.Gln2343His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003750194] |
Chr9:136496710 [GRCh38]
Chr9:139391162 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3677A>G (p.Asn1226Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003750235] |
Chr9:136506940 [GRCh38]
Chr9:139401392 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.6706G>A (p.Gly2236Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003750245] |
Chr9:136497033 [GRCh38]
Chr9:139391485 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3728C>T (p.Thr1243Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003750259] |
Chr9:136506889 [GRCh38]
Chr9:139401341 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1601G>A (p.Ser534Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749904] |
Chr9:136516049 [GRCh38]
Chr9:139410501 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2379C>G (p.Asn793Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003749944] |
Chr9:136513109 [GRCh38]
Chr9:139407561 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1857G>A (p.Gln619=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003750041] |
Chr9:136515529 [GRCh38]
Chr9:139409981 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5965G>C (p.Asp1989His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003750179] |
Chr9:136499229 [GRCh38]
Chr9:139393681 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3725G>C (p.Gly1242Ala) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003750206] |
Chr9:136506892 [GRCh38]
Chr9:139401344 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2741-12G>C |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003750268] |
Chr9:136509973 [GRCh38]
Chr9:139404425 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3880G>A (p.Glu1294Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003750274] |
Chr9:136506737 [GRCh38]
Chr9:139401189 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4969A>T (p.Ser1657Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003855182] |
Chr9:136504722 [GRCh38]
Chr9:139399174 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4890C>T (p.Pro1630=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587489] |
Chr9:136504801 [GRCh38]
Chr9:139399253 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.3172-4C>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586643] |
Chr9:136508389 [GRCh38]
Chr9:139402841 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7028A>T (p.Gln2343Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586680] |
Chr9:136496711 [GRCh38]
Chr9:139391163 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5472+7C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587769] |
Chr9:136501994 [GRCh38]
Chr9:139396446 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3537C>G (p.Asn1179Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586888] |
Chr9:136507411 [GRCh38]
Chr9:139401863 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2740+17C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586913] |
Chr9:136510636 [GRCh38]
Chr9:139405088 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2318G>T (p.Ser773Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586901] |
Chr9:136513427 [GRCh38]
Chr9:139407879 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.232G>A (p.Asp78Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587572] |
Chr9:136523888 [GRCh38]
Chr9:139418340 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.168A>G (p.Arg56=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003845075] |
Chr9:136523952 [GRCh38]
Chr9:139418404 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6082+11G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587069] |
Chr9:136499101 [GRCh38]
Chr9:139393553 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5385-2dup |
duplication |
Adams-Oliver syndrome 5 [RCV003847637] |
Chr9:136502089..136502090 [GRCh38]
Chr9:139396541..139396542 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5007G>A (p.Met1669Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586882] |
Chr9:136504684 [GRCh38]
Chr9:139399136 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.523T>G (p.Cys175Gly) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586783] |
Chr9:136523069 [GRCh38]
Chr9:139417521 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5519A>G (p.His1840Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587762] |
Chr9:136501867 [GRCh38]
Chr9:139396319 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4903G>A (p.Ala1635Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586939] |
Chr9:136504788 [GRCh38]
Chr9:139399240 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.2460C>G (p.Pro820=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587299] |
Chr9:136513028 [GRCh38]
Chr9:139407480 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4144G>A (p.Glu1382Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586982] |
Chr9:136505752 [GRCh38]
Chr9:139400204 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5281C>T (p.Arg1761Trp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587042] |
Chr9:136502375 [GRCh38]
Chr9:139396827 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4586+6G>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587920] |
Chr9:136505304 [GRCh38]
Chr9:139399756 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4477T>C (p.Ser1493Pro) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586972] |
Chr9:136505419 [GRCh38]
Chr9:139399871 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4587-10C>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587099] |
Chr9:136505114 [GRCh38]
Chr9:139399566 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3271G>T (p.Gly1091Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586695] |
Chr9:136508286 [GRCh38]
Chr9:139402738 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3426T>C (p.Cys1142=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003864238] |
Chr9:136508039 [GRCh38]
Chr9:139402491 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6083-16T>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587222] |
Chr9:136499012 [GRCh38]
Chr9:139393464 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.178C>A (p.Pro60Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587488] |
Chr9:136523942 [GRCh38]
Chr9:139418394 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.6019G>A (p.Val2007Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587535] |
Chr9:136499175 [GRCh38]
Chr9:139393627 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5471G>T (p.Arg1824Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587312] |
Chr9:136502002 [GRCh38]
Chr9:139396454 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3901+4G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587626] |
Chr9:136506712 [GRCh38]
Chr9:139401164 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2169C>T (p.Asn723=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586872] |
Chr9:136514548 [GRCh38]
Chr9:139409000 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.1988A>G (p.Glu663Gly) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587704] |
Chr9:136515316 [GRCh38]
Chr9:139409768 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.62-5C>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587439] |
Chr9:136544107 [GRCh38]
Chr9:139438559 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1483G>A (p.Ala495Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587352] |
Chr9:136517344 [GRCh38]
Chr9:139411796 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.4384G>A (p.Val1462Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586554] |
Chr9:136505512 [GRCh38]
Chr9:139399964 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2468-5C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003819250] |
Chr9:136511276 [GRCh38]
Chr9:139405728 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4857C>T (p.Tyr1619=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586907] |
Chr9:136504834 [GRCh38]
Chr9:139399286 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1522A>G (p.Lys508Glu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587737] |
Chr9:136517305 [GRCh38]
Chr9:139411757 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5176G>A (p.Val1726Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587091] |
Chr9:136502480 [GRCh38]
Chr9:139396932 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1556-23TCCCC[2] |
microsatellite |
Adams-Oliver syndrome 5 [RCV003587150]|NOTCH1-related condition [RCV003909028] |
Chr9:136516103..136516107 [GRCh38]
Chr9:139410555..139410559 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4836C>T (p.Gly1612=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587161] |
Chr9:136504855 [GRCh38]
Chr9:139399307 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.6392del (p.Gly2131fs) |
deletion |
Adams-Oliver syndrome 5 [RCV003847176] |
Chr9:136497347 [GRCh38]
Chr9:139391799 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.44C>G (p.Pro15Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587555] |
Chr9:136545743 [GRCh38]
Chr9:139440195 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6180+9G>C |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587588] |
Chr9:136498890 [GRCh38]
Chr9:139393342 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2208-14G>C |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586714] |
Chr9:136513551 [GRCh38]
Chr9:139408003 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2802G>A (p.Leu934=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587936] |
Chr9:136509900 [GRCh38]
Chr9:139404352 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2588-17del |
deletion |
Adams-Oliver syndrome 5 [RCV003587989] |
Chr9:136510822 [GRCh38]
Chr9:139405274 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.844C>T (p.Arg282Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587217] |
Chr9:136519464 [GRCh38]
Chr9:139413916 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5057T>G (p.Val1686Gly) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587235] |
Chr9:136503292 [GRCh38]
Chr9:139397744 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6387G>T (p.Leu2129=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586794] |
Chr9:136497352 [GRCh38]
Chr9:139391804 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6256A>T (p.Asn2086Tyr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587273] |
Chr9:136497483 [GRCh38]
Chr9:139391935 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2994C>T (p.Cys998=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587292] |
Chr9:136509047 [GRCh38]
Chr9:139403499 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.2015-2A>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587680] |
Chr9:136514704 [GRCh38]
Chr9:139409156 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.5256C>G (p.Cys1752Trp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587411] |
Chr9:136502400 [GRCh38]
Chr9:139396852 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4812G>C (p.Val1604=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586540] |
Chr9:136504879 [GRCh38]
Chr9:139399331 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.254A>G (p.Tyr85Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586564] |
Chr9:136523866 [GRCh38]
Chr9:139418318 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.200C>T (p.Pro67Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586565] |
Chr9:136523920 [GRCh38]
Chr9:139418372 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.538A>G (p.Asn180Asp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587894] |
Chr9:136523054 [GRCh38]
Chr9:139417506 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3707C>T (p.Pro1236Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587892] |
Chr9:136506910 [GRCh38]
Chr9:139401362 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.556C>T (p.Pro186Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748554] |
Chr9:136523036 [GRCh38]
Chr9:139417488 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.651G>A (p.Arg217=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586655] |
Chr9:136522941 [GRCh38]
Chr9:139417393 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2157G>A (p.Glu719=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587981] |
Chr9:136514560 [GRCh38]
Chr9:139409012 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.2353+20C>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587975] |
Chr9:136513372 [GRCh38]
Chr9:139407824 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7119G>A (p.Leu2373=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003588020] |
Chr9:136496620 [GRCh38]
Chr9:139391072 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5472+15T>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003847140] |
Chr9:136501986 [GRCh38]
Chr9:139396438 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6198T>C (p.Phe2066=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748828] |
Chr9:136497541 [GRCh38]
Chr9:139391993 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4483_4504del (p.Gln1495fs) |
deletion |
Adams-Oliver syndrome 5 [RCV003748831] |
Chr9:136505392..136505413 [GRCh38]
Chr9:139399844..139399865 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.2220C>A (p.Asp740Glu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586595] |
Chr9:136513525 [GRCh38]
Chr9:139407977 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5763C>G (p.His1921Gln) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003863850] |
Chr9:136500723 [GRCh38]
Chr9:139395175 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6500C>A (p.Ala2167Asp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003871360] |
Chr9:136497239 [GRCh38]
Chr9:139391691 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.637C>T (p.Pro213Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587046] |
Chr9:136522955 [GRCh38]
Chr9:139417407 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5462A>G (p.Lys1821Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587101] |
Chr9:136502011 [GRCh38]
Chr9:139396463 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5154C>A (p.Ile1718=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587113] |
Chr9:136503195 [GRCh38]
Chr9:139397647 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5227G>A (p.Ala1743Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587142] |
Chr9:136502429 [GRCh38]
Chr9:139396881 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5607C>T (p.Ala1869=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587170] |
Chr9:136501779 [GRCh38]
Chr9:139396231 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.5006T>C (p.Met1669Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587267] |
Chr9:136504685 [GRCh38]
Chr9:139399137 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6732C>A (p.Ile2244=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003846043] |
Chr9:136497007 [GRCh38]
Chr9:139391459 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3902-7C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587295] |
Chr9:136506646 [GRCh38]
Chr9:139401098 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1755C>T (p.Ala585=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587349] |
Chr9:136515631 [GRCh38]
Chr9:139410083 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4587-10C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003871841] |
Chr9:136505114 [GRCh38]
Chr9:139399566 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5018+6_5018+9del |
microsatellite |
Adams-Oliver syndrome 5 [RCV003587432] |
Chr9:136504664..136504667 [GRCh38]
Chr9:139399116..139399119 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6180+11G>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003747714] |
Chr9:136498888 [GRCh38]
Chr9:139393340 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5326T>G (p.Ser1776Ala) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003747716] |
Chr9:136502330 [GRCh38]
Chr9:139396782 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6944A>C (p.Gln2315Pro) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003747843] |
Chr9:136496795 [GRCh38]
Chr9:139391247 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2839_2841del (p.Asn947del) |
deletion |
Adams-Oliver syndrome 5 [RCV003587444] |
Chr9:136509861..136509863 [GRCh38]
Chr9:139404313..139404315 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4926C>T (p.Asp1642=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587538] |
Chr9:136504765 [GRCh38]
Chr9:139399217 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.1110C>T (p.Cys370=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587628] |
Chr9:136518282 [GRCh38]
Chr9:139412734 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.17C>A (p.Ala6Glu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748018] |
Chr9:136545770 [GRCh38]
Chr9:139440222 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5571C>T (p.Ala1857=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748100] |
Chr9:136501815 [GRCh38]
Chr9:139396267 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2336G>C (p.Cys779Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748884] |
Chr9:136513409 [GRCh38]
Chr9:139407861 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.513T>C (p.His171=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748136] |
Chr9:136523079 [GRCh38]
Chr9:139417531 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.4911C>G (p.Gly1637=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748141] |
Chr9:136504780 [GRCh38]
Chr9:139399232 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1903+15G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748142] |
Chr9:136515468 [GRCh38]
Chr9:139409920 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4025G>A (p.Gly1342Asp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748159] |
Chr9:136505871 [GRCh38]
Chr9:139400323 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1555+5G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587491] |
Chr9:136517267 [GRCh38]
Chr9:139411719 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.167G>A (p.Arg56Gln) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748514] |
Chr9:136523953 [GRCh38]
Chr9:139418405 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.646G>A (p.Glu216Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748582] |
Chr9:136522946 [GRCh38]
Chr9:139417398 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4953GCT[1] (p.Leu1653del) |
microsatellite |
Adams-Oliver syndrome 5 [RCV003587553] |
Chr9:136504733..136504735 [GRCh38]
Chr9:139399185..139399187 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2969+18G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748604] |
Chr9:136509715 [GRCh38]
Chr9:139404167 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| GRCh37/hg19 9q34.3(chr9:139356644-139427066)x1 |
copy number loss |
not specified [RCV003986831] |
Chr9:139356644..139427066 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.5473-15A>C |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003841593] |
Chr9:136501928 [GRCh38]
Chr9:139396380 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5639-19C>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587836] |
Chr9:136500866 [GRCh38]
Chr9:139395318 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3263G>A (p.Gly1088Asp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587889] |
Chr9:136508294 [GRCh38]
Chr9:139402746 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.65C>G (p.Pro22Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003869791] |
Chr9:136544099 [GRCh38]
Chr9:139438551 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2103C>A (p.Thr701=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586691] |
Chr9:136514614 [GRCh38]
Chr9:139409066 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.475G>C (p.Glu159Gln) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586712] |
Chr9:136523117 [GRCh38]
Chr9:139417569 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3326-14C>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586764] |
Chr9:136508153 [GRCh38]
Chr9:139402605 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2521G>C (p.Gly841Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003853227] |
Chr9:136511218 [GRCh38]
Chr9:139405670 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2207+19C>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003870159] |
Chr9:136514491 [GRCh38]
Chr9:139408943 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5394G>A (p.Lys1798=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003822789] |
Chr9:136502079 [GRCh38]
Chr9:139396531 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1892A>G (p.Lys631Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003819777] |
Chr9:136515494 [GRCh38]
Chr9:139409946 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6292C>T (p.Arg2098Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586995] |
Chr9:136497447 [GRCh38]
Chr9:139391899 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2004G>A (p.Pro668=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587027] |
Chr9:136515300 [GRCh38]
Chr9:139409752 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.5934+12C>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003867735] |
Chr9:136500540 [GRCh38]
Chr9:139394992 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6026G>A (p.Gly2009Asp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587145] |
Chr9:136499168 [GRCh38]
Chr9:139393620 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3730T>G (p.Cys1244Gly) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587153] |
Chr9:136506887 [GRCh38]
Chr9:139401339 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.335G>T (p.Arg112Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587178] |
Chr9:136523785 [GRCh38]
Chr9:139418237 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.4855TAC[1] (p.Tyr1620del) |
microsatellite |
Adams-Oliver syndrome 5 [RCV003748623] |
Chr9:136504831..136504833 [GRCh38]
Chr9:139399283..139399285 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6009C>T (p.Ala2003=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748628] |
Chr9:136499185 [GRCh38]
Chr9:139393637 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5299C>G (p.Leu1767Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003747745] |
Chr9:136502357 [GRCh38]
Chr9:139396809 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4001G>A (p.Cys1334Tyr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003747747] |
Chr9:136506540 [GRCh38]
Chr9:139400992 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1467C>G (p.Val489=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003747757] |
Chr9:136517360 [GRCh38]
Chr9:139411812 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4236C>T (p.Tyr1412=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003747777] |
Chr9:136505660 [GRCh38]
Chr9:139400112 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.403+14C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003747780] |
Chr9:136523703 [GRCh38]
Chr9:139418155 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.271C>T (p.Leu91=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003747811] |
Chr9:136523849 [GRCh38]
Chr9:139418301 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2015-11C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587088] |
Chr9:136514713 [GRCh38]
Chr9:139409165 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.170G>A (p.Cys57Tyr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748655] |
Chr9:136523950 [GRCh38]
Chr9:139418402 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1848C>A (p.Gly616=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748680] |
Chr9:136515538 [GRCh38]
Chr9:139409990 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2740+12C>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748742] |
Chr9:136510641 [GRCh38]
Chr9:139405093 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5944C>A (p.Arg1982=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003747895] |
Chr9:136499250 [GRCh38]
Chr9:139393702 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2741-17C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003747896] |
Chr9:136509978 [GRCh38]
Chr9:139404430 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6563G>T (p.Gly2188Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003747897] |
Chr9:136497176 [GRCh38]
Chr9:139391628 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.1936G>A (p.Ala646Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003747930] |
Chr9:136515368 [GRCh38]
Chr9:139409820 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2014+8G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003747937] |
Chr9:136515282 [GRCh38]
Chr9:139409734 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2588-11C>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003747938] |
Chr9:136510816 [GRCh38]
Chr9:139405268 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2504_2506del (p.Pro835_Ser836delinsArg) |
deletion |
Adams-Oliver syndrome 5 [RCV003747941] |
Chr9:136511233..136511235 [GRCh38]
Chr9:139405685..139405687 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.865+18C>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003747944] |
Chr9:136519425 [GRCh38]
Chr9:139413877 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1669+4C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003844192] |
Chr9:136515977 [GRCh38]
Chr9:139410429 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2970-5T>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003869081] |
Chr9:136509076 [GRCh38]
Chr9:139403528 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.394G>A (p.Gly132Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748793] |
Chr9:136523726 [GRCh38]
Chr9:139418178 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5119G>A (p.Ala1707Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748813] |
Chr9:136503230 [GRCh38]
Chr9:139397682 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3344T>C (p.Leu1115Pro) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748837] |
Chr9:136508121 [GRCh38]
Chr9:139402573 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2759G>A (p.Gly920Asp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748847] |
Chr9:136509943 [GRCh38]
Chr9:139404395 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2015-10C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748848] |
Chr9:136514712 [GRCh38]
Chr9:139409164 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7312C>T (p.Pro2438Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748855] |
Chr9:136496427 [GRCh38]
Chr9:139390879 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4332G>A (p.Leu1444=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748775] |
Chr9:136505564 [GRCh38]
Chr9:139400016 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.2588-20G>C |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748766] |
Chr9:136510825 [GRCh38]
Chr9:139405277 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1068C>T (p.Ser356=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748827] |
Chr9:136518622 [GRCh38]
Chr9:139413074 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7405C>T (p.Pro2469Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748861] |
Chr9:136496334 [GRCh38]
Chr9:139390786 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3644-14A>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748866] |
Chr9:136506987 [GRCh38]
Chr9:139401439 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6072A>T (p.Val2024=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748868] |
Chr9:136499122 [GRCh38]
Chr9:139393574 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2740+13G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748870] |
Chr9:136510640 [GRCh38]
Chr9:139405092 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.6556G>A (p.Gly2186Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748871] |
Chr9:136497183 [GRCh38]
Chr9:139391635 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.403+16C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748872] |
Chr9:136523701 [GRCh38]
Chr9:139418153 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1904-16C>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748081] |
Chr9:136515416 [GRCh38]
Chr9:139409868 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7646G>A (p.Arg2549His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748113] |
Chr9:136496093 [GRCh38]
Chr9:139390545 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.405G>A (p.Gly135=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587536] |
Chr9:136523187 [GRCh38]
Chr9:139417639 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.17C>T (p.Ala6Val) |
single nucleotide variant |
NOTCH1-related condition [RCV003956553]|not provided [RCV003736381] |
Chr9:136545770 [GRCh38]
Chr9:139440222 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.18G>T (p.Ala6=) |
single nucleotide variant |
not provided [RCV003736382] |
Chr9:136545769 [GRCh38]
Chr9:139440221 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4091T>C (p.Ile1364Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587721] |
Chr9:136505805 [GRCh38]
Chr9:139400257 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5717C>T (p.Ala1906Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003846293] |
Chr9:136500769 [GRCh38]
Chr9:139395221 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3833C>T (p.Ala1278Val) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587600] |
Chr9:136506784 [GRCh38]
Chr9:139401236 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6363C>G (p.Ser2121Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587620] |
Chr9:136497376 [GRCh38]
Chr9:139391828 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2677T>C (p.Cys893Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587657] |
Chr9:136510716 [GRCh38]
Chr9:139405168 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.7110C>A (p.Ser2370Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587663] |
Chr9:136496629 [GRCh38]
Chr9:139391081 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1443C>T (p.Gly481=) |
single nucleotide variant |
not provided [RCV003736429] |
Chr9:136517384 [GRCh38]
Chr9:139411836 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.2468-7C>T |
single nucleotide variant |
not provided [RCV003736458] |
Chr9:136511278 [GRCh38]
Chr9:139405730 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6700C>T (p.Leu2234=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587683] |
Chr9:136497039 [GRCh38]
Chr9:139391491 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3868G>A (p.Asp1290Asn) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003588015] |
Chr9:136506749 [GRCh38]
Chr9:139401201 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5385-3C>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003588047] |
Chr9:136502091 [GRCh38]
Chr9:139396543 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6986G>C (p.Ser2329Thr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587564] |
Chr9:136496753 [GRCh38]
Chr9:139391205 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.525C>T (p.Cys175=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587695] |
Chr9:136523067 [GRCh38]
Chr9:139417519 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4449C>G (p.Phe1483Leu) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003841564] |
Chr9:136505447 [GRCh38]
Chr9:139399899 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1769T>G (p.Leu590Arg) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586527] |
Chr9:136515617 [GRCh38]
Chr9:139410069 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2587+1G>T |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586552] |
Chr9:136511151 [GRCh38]
Chr9:139405603 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.2540C>G (p.Ser847Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586553] |
Chr9:136511199 [GRCh38]
Chr9:139405651 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1527C>G (p.Ile509Met) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003840635] |
Chr9:136517300 [GRCh38]
Chr9:139411752 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2026A>T (p.Asn676Tyr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586545] |
Chr9:136514691 [GRCh38]
Chr9:139409143 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1483_1484delinsAA (p.Ala495Asn) |
indel |
Adams-Oliver syndrome 5 [RCV003586549] |
Chr9:136517343..136517344 [GRCh38]
Chr9:139411795..139411796 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.486C>T (p.Tyr162=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587773] |
Chr9:136523106 [GRCh38]
Chr9:139417558 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4185C>A (p.Asn1395Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003819363] |
Chr9:136505711 [GRCh38]
Chr9:139400163 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3067A>G (p.Asn1023Asp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586751] |
Chr9:136508974 [GRCh38]
Chr9:139403426 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3172-5C>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003847834] |
Chr9:136508390 [GRCh38]
Chr9:139402842 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3530G>C (p.Gly1177Ala) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586608] |
Chr9:136507418 [GRCh38]
Chr9:139401870 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6424C>T (p.Pro2142Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586807] |
Chr9:136497315 [GRCh38]
Chr9:139391767 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3693C>G (p.Pro1231=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586864] |
Chr9:136506924 [GRCh38]
Chr9:139401376 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4470C>T (p.Cys1490=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586931] |
Chr9:136505426 [GRCh38]
Chr9:139399878 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3901+5G>A |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586954] |
Chr9:136506711 [GRCh38]
Chr9:139401163 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6503G>C (p.Cys2168Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586968] |
Chr9:136497236 [GRCh38]
Chr9:139391688 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1713C>T (p.Asp571=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586955] |
Chr9:136515673 [GRCh38]
Chr9:139410125 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.6552G>T (p.Gln2184His) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003586991] |
Chr9:136497187 [GRCh38]
Chr9:139391639 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5920C>A (p.Gln1974Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587093] |
Chr9:136500566 [GRCh38]
Chr9:139395018 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4753C>T (p.Leu1585=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587204] |
Chr9:136504938 [GRCh38]
Chr9:139399390 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.1797C>A (p.His599Gln) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587221] |
Chr9:136515589 [GRCh38]
Chr9:139410041 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2969+13C>G |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587300] |
Chr9:136509720 [GRCh38]
Chr9:139404172 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.66G>C (p.Pro22=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003863249] |
Chr9:136544098 [GRCh38]
Chr9:139438550 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3812G>A (p.Cys1271Tyr) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003863639] |
Chr9:136506805 [GRCh38]
Chr9:139401257 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1719C>T (p.Asp573=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587283] |
Chr9:136515667 [GRCh38]
Chr9:139410119 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3541T>C (p.Ser1181Pro) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587386] |
Chr9:136507407 [GRCh38]
Chr9:139401859 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1353C>T (p.Ile451=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587323] |
Chr9:136517840 [GRCh38]
Chr9:139412292 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.5820C>T (p.Arg1940=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587169] |
Chr9:136500666 [GRCh38]
Chr9:139395118 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4181G>A (p.Gly1394Asp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003860472] |
Chr9:136505715 [GRCh38]
Chr9:139400167 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2333C>T (p.Thr778Ile) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587395] |
Chr9:136513412 [GRCh38]
Chr9:139407864 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5025C>T (p.Ile1675=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587410] |
Chr9:136503324 [GRCh38]
Chr9:139397776 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.7069A>T (p.Ser2357Cys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587445] |
Chr9:136496670 [GRCh38]
Chr9:139391122 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3660C>T (p.Ile1220=) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587438] |
Chr9:136506957 [GRCh38]
Chr9:139401409 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4507G>A (p.Gly1503Ser) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003587482] |
Chr9:136505389 [GRCh38]
Chr9:139399841 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_017617.5(NOTCH1):c.5914G>C (p.Asp1972His) |
single nucleotide variant |
NOTCH1-related condition [RCV003899505] |
Chr9:136500572 [GRCh38]
Chr9:139395024 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1629C>T (p.Cys543=) |
single nucleotide variant |
NOTCH1-related condition [RCV003973841] |
Chr9:136516021 [GRCh38]
Chr9:139410473 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.7457C>T (p.Ser2486Leu) |
single nucleotide variant |
NOTCH1-related condition [RCV003899738] |
Chr9:136496282 [GRCh38]
Chr9:139390734 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.*7C>T |
single nucleotide variant |
NOTCH1-related condition [RCV003914207] |
Chr9:136496064 [GRCh38]
Chr9:139390516 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.738G>C (p.Leu246=) |
single nucleotide variant |
NOTCH1-related condition [RCV003946911] |
Chr9:136522854 [GRCh38]
Chr9:139417306 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.5385-8C>G |
single nucleotide variant |
NOTCH1-related condition [RCV003911685] |
Chr9:136502096 [GRCh38]
Chr9:139396548 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2433C>G (p.Ala811=) |
single nucleotide variant |
NOTCH1-related condition [RCV003969787] |
Chr9:136513055 [GRCh38]
Chr9:139407507 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.4549G>C (p.Asp1517His) |
single nucleotide variant |
NOTCH1-related condition [RCV003952137] |
Chr9:136505347 [GRCh38]
Chr9:139399799 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.2407C>T (p.Gln803Ter) |
single nucleotide variant |
not provided [RCV003887717] |
Chr9:136513081 [GRCh38]
Chr9:139407533 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.11T>C (p.Leu4Pro) |
single nucleotide variant |
NOTCH1-related condition [RCV003897042] |
Chr9:136545776 [GRCh38]
Chr9:139440228 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5167+5G>A |
single nucleotide variant |
Aortic valve disease 1 [RCV003984950] |
Chr9:136503177 [GRCh38]
Chr9:139397629 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4249C>T (p.Pro1417Ser) |
single nucleotide variant |
NOTCH1-related condition [RCV003951656] |
Chr9:136505647 [GRCh38]
Chr9:139400099 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.728G>T (p.Cys243Phe) |
single nucleotide variant |
NOTCH1-related condition [RCV003897081] |
Chr9:136522864 [GRCh38]
Chr9:139417316 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.3170del (p.Gln1057fs) |
deletion |
NOTCH1-related condition [RCV003959663] |
Chr9:136508871 [GRCh38]
Chr9:139403323 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_017617.5(NOTCH1):c.5580C>A (p.Pro1860=) |
single nucleotide variant |
NOTCH1-related condition [RCV003971825] |
Chr9:136501806 [GRCh38]
Chr9:139396258 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3356G>A (p.Gly1119Glu) |
single nucleotide variant |
not provided [RCV003887444] |
Chr9:136508109 [GRCh38]
Chr9:139402561 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.231G>A (p.Val77=) |
single nucleotide variant |
NOTCH1-related condition [RCV003901884] |
Chr9:136523889 [GRCh38]
Chr9:139418341 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1113C>T (p.His371=) |
single nucleotide variant |
NOTCH1-related condition [RCV003951751] |
Chr9:136518279 [GRCh38]
Chr9:139412731 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1063G>T (p.Ala355Ser) |
single nucleotide variant |
NOTCH1-related condition [RCV003896849] |
Chr9:136518627 [GRCh38]
Chr9:139413079 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.5446G>A (p.Glu1816Lys) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748488]|not specified [RCV003330486] |
Chr9:136502027 [GRCh38]
Chr9:139396479 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_017617.5(NOTCH1):c.6175A>G (p.Asn2059Asp) |
single nucleotide variant |
Adams-Oliver syndrome 5 [RCV003748489]|Familial thoracic aortic aneurysm and aortic dissection [RCV003341819] |
Chr9:136498904 [GRCh38]
Chr9:139393356 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4166G>T (p.Ser1389Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003341811] |
Chr9:136505730 [GRCh38]
Chr9:139400182 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.4051A>G (p.Thr1351Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003341814] |
Chr9:136505845 [GRCh38]
Chr9:139400297 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.3268A>G (p.Thr1090Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003341816] |
Chr9:136508289 [GRCh38]
Chr9:139402741 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.1500G>A (p.Leu500=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003341817] |
Chr9:136517327 [GRCh38]
Chr9:139411779 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_017617.5(NOTCH1):c.1898C>T (p.Thr633Ile) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003341818] |
Chr9:136515488 [GRCh38]
Chr9:139409940 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.901C>G (p.Leu301Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003341815] |
Chr9:136518789 [GRCh38]
Chr9:139413241 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.6290C>T (p.Pro2097Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003341822] |
Chr9:136497449 [GRCh38]
Chr9:139391901 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_017617.5(NOTCH1):c.2112C>A (p.Cys704Ter) |
single nucleotide variant |
Aortic valve disease 1 [RCV003387570] |
Chr9:136514605 [GRCh38]
Chr9:139409057 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_017617.5(NOTCH1):c.3609C>T (p.Asn1203=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003358410] |
Chr9:136507339 [GRCh38]
Chr9:139401791 [GRCh37]
Chr9:9q34.3 |
likely benign |
