| NM_000093.5(COL5A1):c.491+3A>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231049] |
Chr9:134700125 [GRCh38]
Chr9:137591971 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.753C>T (p.Thr251=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231314]|Familial thoracic aortic aneurysm and aortic dissection [RCV002395330]|not provided [RCV000524557] |
Chr9:134727364 [GRCh38]
Chr9:137619210 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.792G>A (p.Thr264=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231696]|Familial thoracic aortic aneurysm and aortic dissection [RCV002420391] |
Chr9:134728675 [GRCh38]
Chr9:137620521 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1143C>T (p.Ala381=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV000557329]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314954]|Fibromuscular dysplasia, multifocal [RCV002270637] |
Chr9:134730454 [GRCh38]
Chr9:137622300 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.1503del (p.Gly502fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231640]|not provided [RCV000522453] |
Chr9:134750550 [GRCh38]
Chr9:137642396 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.28C>T (p.Arg10Cys) |
single nucleotide variant |
COL5A1-related condition [RCV003419930]|Ehlers-Danlos syndrome, classic type, 1 [RCV002231289]|not provided [RCV001726218] |
Chr9:134642215 [GRCh38]
Chr9:137534061 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.3752dup (p.Pro1253fs) |
duplication |
Ehlers-Danlos syndrome, classic type [RCV000531960]|Ehlers-Danlos syndrome, classic type, 1 [RCV002231046]|not provided [RCV000627416] |
Chr9:134812606..134812607 [GRCh38]
Chr9:137704452..137704453 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic |
| NM_000093.5(COL5A1):c.3059C>T (p.Pro1020Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231043]|not provided [RCV002223861] |
Chr9:134802940 [GRCh38]
Chr9:137694786 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.787-9C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231315] |
Chr9:134728661 [GRCh38]
Chr9:137620507 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.3564C>A (p.Ile1188=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231044]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314957]|not provided [RCV000543214] |
Chr9:134811374 [GRCh38]
Chr9:137703220 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.315T>C (p.Thr105=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002060299] |
Chr9:134699946 [GRCh38]
Chr9:137591792 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4144G>A (p.Glu1382Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231047] |
Chr9:134817047 [GRCh38]
Chr9:137708893 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2724G>C (p.Pro908=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231682] |
Chr9:134795105 [GRCh38]
Chr9:137686951 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1638G>A (p.Ala546=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231286]|Familial thoracic aortic aneurysm and aortic dissection [RCV002404398] |
Chr9:134750858 [GRCh38]
Chr9:137642704 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1431+10C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231042] |
Chr9:134738525 [GRCh38]
Chr9:137630371 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3852+10G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231298] |
Chr9:134812722 [GRCh38]
Chr9:137704568 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4326C>A (p.Ile1442=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002528318] |
Chr9:134818751 [GRCh38]
Chr9:137710597 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4456G>A (p.Gly1486Ser) |
single nucleotide variant |
not provided [RCV000519840] |
Chr9:134820125 [GRCh38]
Chr9:137711971 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.3583-6dup |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231045] |
Chr9:134811483..134811484 [GRCh38]
Chr9:137703329..137703330 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) |
single nucleotide variant |
Connective tissue disorder [RCV000659443]|Ehlers-Danlos syndrome [RCV002277113]|Ehlers-Danlos syndrome type 7A [RCV000349789]|Ehlers-Danlos syndrome, classic type [RCV000032106]|Ehlers-Danlos syndrome, classic type, 1 [RCV001507191]|Ehlers-Danlos syndrome, classic type, 1 [RCV002490441]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313725]|Fibromuscular dysplasia, multifocal [RCV002269821]|not provided [RCV000587214]|not specified [RCV000174444] |
Chr9:134750808 [GRCh38]
Chr9:137642654 [GRCh37]
Chr9:9q34.3 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000093.5(COL5A1):c.3184C>T (p.Arg1062Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001290027]|not provided [RCV000199830] |
Chr9:134805044 [GRCh38]
Chr9:137696890 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.3906+3G>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV000018723]|not provided [RCV000578847] |
Chr9:134814039 [GRCh38]
Chr9:137705885 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.5370+3_5370+6del |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV000018724] |
Chr9:134835205..134835208 [GRCh38]
Chr9:137727051..137727054 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.4916G>C (p.Cys1639Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000032107]|Ehlers-Danlos syndrome, classic type, 1 [RCV001290029] |
Chr9:134824817 [GRCh38]
Chr9:137716663 [GRCh37]
Chr9:9q34.3 |
pathogenic|not provided |
| NM_000093.5(COL5A1):c.3260_3366+1del |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV000018726] |
Chr9:9q34.2-q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.5137-11T>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV000018727] |
Chr9:134834960 [GRCh38]
Chr9:137726806 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.2701-25T>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001290028] |
Chr9:134795057 [GRCh38]
Chr9:137686903 [GRCh37]
Chr9:9q34.3 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_000093.5(COL5A1):c.4466G>A (p.Gly1489Glu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV000018729] |
Chr9:134820135 [GRCh38]
Chr9:137711981 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.3752del (p.Pro1251fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV000018730] |
Chr9:134812607 [GRCh38]
Chr9:137704453 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.2374C>T (p.Arg792Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002276558]|Ehlers-Danlos syndrome, classic type, 1 [RCV000018731] |
Chr9:134774901 [GRCh38]
Chr9:137666747 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.655-2A>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV000018732] |
Chr9:134727264 [GRCh38]
Chr9:137619110 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic |
| NM_000093.4(COL5A1):c.4339-1delG |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV000018733] |
Chr9:134818847 [GRCh38]
Chr9:137710693 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.4598C>T (p.Pro1533Leu) |
single nucleotide variant |
not provided [RCV000723197] |
Chr9:134822140 [GRCh38]
Chr9:137713986 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.904G>T (p.Glu302Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002533159]|not provided [RCV000627300] |
Chr9:134728787 [GRCh38]
Chr9:137620633 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.4619G>T (p.Gly1540Val) |
single nucleotide variant |
not provided [RCV000722215] |
Chr9:134823008 [GRCh38]
Chr9:137714854 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2647-9C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231288] |
Chr9:134789146 [GRCh38]
Chr9:137680992 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1291G>A (p.Gly431Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000526749]|Ehlers-Danlos syndrome, classic type, 1 [RCV002231284]|not provided [RCV001775851] |
Chr9:134731622 [GRCh38]
Chr9:137623468 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.1044G>T (p.Thr348=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231678] |
Chr9:134730355 [GRCh38]
Chr9:137622201 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3263C>G (p.Ser1088Cys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231684] |
Chr9:134806193 [GRCh38]
Chr9:137698039 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3015G>T (p.Thr1005=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231291] |
Chr9:134802896 [GRCh38]
Chr9:137694742 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3398G>A (p.Arg1133Gln) |
single nucleotide variant |
COL5A1-related condition [RCV003424097]|Ehlers-Danlos syndrome, classic type [RCV000542708]|Ehlers-Danlos syndrome, classic type, 1 [RCV002231685]|not provided [RCV000999273] |
Chr9:134809214 [GRCh38]
Chr9:137701060 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.1410G>A (p.Pro470=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002232598]|Familial thoracic aortic aneurysm and aortic dissection [RCV002395585]|not provided [RCV000869310] |
Chr9:134738494 [GRCh38]
Chr9:137630340 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5234A>G (p.His1745Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231695]|not provided [RCV001764546] |
Chr9:134835068 [GRCh38]
Chr9:137726914 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.5497C>T (p.Pro1833Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231051] |
Chr9:134842283 [GRCh38]
Chr9:137734129 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4231-9G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000553614]|Ehlers-Danlos syndrome, classic type, 1 [RCV001507235]|Fibromuscular dysplasia, multifocal [RCV002270638]|not provided [RCV001584252] |
Chr9:134818647 [GRCh38]
Chr9:137710493 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.3805C>T (p.Gln1269Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231296]|not provided [RCV003328594] |
Chr9:134812665 [GRCh38]
Chr9:137704511 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.977G>A (p.Gly326Glu) |
single nucleotide variant |
not provided [RCV000520180] |
Chr9:134730288 [GRCh38]
Chr9:137622134 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.543C>T (p.Leu181=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231311] |
Chr9:134701222 [GRCh38]
Chr9:137593068 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4612C>A (p.Pro1538Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231691] |
Chr9:134823001 [GRCh38]
Chr9:137714847 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3465C>T (p.Asp1155=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231293]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314956]|not provided [RCV000827615] |
Chr9:134809281 [GRCh38]
Chr9:137701127 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3312A>G (p.Pro1104=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002527702] |
Chr9:134806242 [GRCh38]
Chr9:137698088 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4614G>A (p.Pro1538=) |
single nucleotide variant |
COL5A1-related condition [RCV003900144]|Ehlers-Danlos syndrome, classic type, 1 [RCV002231692] |
Chr9:134823003 [GRCh38]
Chr9:137714849 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5495G>A (p.Gly1832Glu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231050]|Familial thoracic aortic aneurysm and aortic dissection [RCV002350212] |
Chr9:134842281 [GRCh38]
Chr9:137734127 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1882-5del |
deletion |
Ehlers-Danlos syndrome, classic type [RCV000547040]|Ehlers-Danlos syndrome, classic type, 1 [RCV002231681] |
Chr9:134758234 [GRCh38]
Chr9:137650080 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.1797G>A (p.Pro599=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231680]|Familial thoracic aortic aneurysm and aortic dissection [RCV002413477] |
Chr9:134754296 [GRCh38]
Chr9:137646142 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1246TACTACGACCCC[1] (p.416YYDP[1]) |
microsatellite |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231283]|Familial thoracic aortic aneurysm and aortic dissection [RCV002420390]|not provided [RCV001090697] |
Chr9:134731576..134731587 [GRCh38]
Chr9:137623422..137623433 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.735C>T (p.Asp245=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV001000411]|Ehlers-Danlos syndrome, classic type, 1 [RCV002231313]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314958]|not provided [RCV001569950] |
Chr9:134727346 [GRCh38]
Chr9:137619192 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4044C>T (p.Gly1348=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231299]|Familial thoracic aortic aneurysm and aortic dissection [RCV002323935] |
Chr9:134815605 [GRCh38]
Chr9:137707451 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4402G>A (p.Gly1468Arg) |
single nucleotide variant |
not provided [RCV000521606] |
Chr9:134819009 [GRCh38]
Chr9:137710855 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.4378C>A (p.Pro1460Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231214]|not provided [RCV000518962] |
Chr9:134818887 [GRCh38]
Chr9:137710733 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.4276G>A (p.Gly1426Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231048] |
Chr9:134818701 [GRCh38]
Chr9:137710547 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NC_000009.11:g.(?_137582738)_(137593199_?)dup |
duplication |
Ehlers-Danlos syndrome, classic type [RCV000530669]|Ehlers-Danlos syndrome, classic type, 1 [RCV001858055] |
Chr9:134690892..134701353 [GRCh38]
Chr9:137582738..137593199 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.5321T>C (p.Met1774Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231309] |
Chr9:134835155 [GRCh38]
Chr9:137727001 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_001278074.1(COL5A1):c.3206dup (p.Ala1070Serfs) |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231292] |
Chr9:134805159..134805160 [GRCh38]
Chr9:137697005..137697006 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.3812C>T (p.Pro1271Leu) |
single nucleotide variant |
Abnormal bleeding [RCV000851983]|Ehlers-Danlos syndrome, classic type, 1 [RCV002231297]|Familial thoracic aortic aneurysm and aortic dissection [RCV002358473]|not provided [RCV001509377] |
Chr9:134812672 [GRCh38]
Chr9:137704518 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NC_000009.12:g.(?_134690892)_(134763757_?)del |
deletion |
Ehlers-Danlos syndrome, classic type [RCV000543426] |
Chr9:134690892..134763757 [GRCh38]
Chr9:137582738..137655603 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.110-3C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231679] |
Chr9:134690909 [GRCh38]
Chr9:137582755 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2088+4dup |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241803] |
Chr9:134765736..134765737 [GRCh38]
Chr9:137657582..137657583 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| 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 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 9q34.2-34.3(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 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 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 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 |
| 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 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 |
| NM_000093.4(COL5A1):c.3106G>A (p.Gly1036Arg) |
single nucleotide variant |
Malignant melanoma [RCV000068578] |
Chr9:134802987 [GRCh38]
Chr9:137694833 [GRCh37]
Chr9:136834654 [NCBI36]
Chr9:9q34.3 |
not provided |
| NM_000093.4(COL5A1):c.3107G>A (p.Gly1036Glu) |
single nucleotide variant |
Malignant melanoma [RCV000068579] |
Chr9:134802988 [GRCh38]
Chr9:137694834 [GRCh37]
Chr9:136834655 [NCBI36]
Chr9:9q34.3 |
not provided |
| NM_000093.4(COL5A1):c.3205G>A (p.Gly1069Arg) |
single nucleotide variant |
Malignant melanoma [RCV000068580] |
Chr9:134805161 [GRCh38]
Chr9:137697007 [GRCh37]
Chr9:136836828 [NCBI36]
Chr9:9q34.3 |
not provided |
| NM_000093.4(COL5A1):c.4875G>A (p.Met1625Ile) |
single nucleotide variant |
Malignant melanoma [RCV000068581] |
Chr9:134824776 [GRCh38]
Chr9:137716622 [GRCh37]
Chr9:136856443 [NCBI36]
Chr9:9q34.3 |
not provided |
| NM_000093.4(COL5A1):c.2859C>T (p.Pro953=) |
single nucleotide variant |
Malignant melanoma [RCV000061903] |
Chr9:134796862 [GRCh38]
Chr9:137688708 [GRCh37]
Chr9:136828529 [NCBI36]
Chr9:9q34.3 |
not provided |
| NM_000093.4(COL5A1):c.2860C>T (p.Gln954Ter) |
single nucleotide variant |
Malignant melanoma [RCV000061904] |
Chr9:134796863 [GRCh38]
Chr9:137688709 [GRCh37]
Chr9:136828530 [NCBI36]
Chr9:9q34.3 |
not provided |
| NM_000093.4(COL5A1):c.2878C>T (p.Pro960Ser) |
single nucleotide variant |
Malignant melanoma [RCV000061905] |
Chr9:134796881 [GRCh38]
Chr9:137688727 [GRCh37]
Chr9:136828548 [NCBI36]
Chr9:9q34.3 |
not provided |
| NM_000093.5(COL5A1):c.3258+7C>A |
single nucleotide variant |
Connective tissue disorder [RCV000659450]|Ehlers-Danlos syndrome, classic type, 1 [RCV002235527] |
Chr9:134805221 [GRCh38]
Chr9:137697067 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.4(COL5A1):c.*994G>T |
single nucleotide variant |
Lung cancer [RCV000108191] |
Chr9:134843297 [GRCh38]
Chr9:137735143 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.492-3C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000659438]|Ehlers-Danlos syndrome, classic type, 1 [RCV002534318] |
Chr9:134701168 [GRCh38]
Chr9:137593014 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3991G>A (p.Asp1331Asn) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000659457]|Ehlers-Danlos syndrome, classic type, 1 [RCV002235655]|not provided [RCV001766433]|not specified [RCV002249390] |
Chr9:134814881 [GRCh38]
Chr9:137706727 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.1881+13C>T |
single nucleotide variant |
Connective tissue disorder [RCV000659445] |
Chr9:134756831 [GRCh38]
Chr9:137648677 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1539C>T (p.Pro513=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV000539767]|Familial thoracic aortic aneurysm and aortic dissection [RCV002312830]|Fibromuscular dysplasia, multifocal [RCV002269870]|not specified [RCV000124417] |
Chr9:134750586 [GRCh38]
Chr9:137642432 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.1566G>A (p.Leu522=) |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000408348]|Ehlers-Danlos syndrome, classic type, 1 [RCV000475745]|Familial thoracic aortic aneurysm and aortic dissection [RCV002312831]|Fibromuscular dysplasia, multifocal [RCV002269871]|not specified [RCV000124418] |
Chr9:134750613 [GRCh38]
Chr9:137642459 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.1569+15C>T |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000292538]|Ehlers-Danlos syndrome, classic type, 1 [RCV002055481]|Fibromuscular dysplasia, multifocal [RCV002269872]|not specified [RCV000124419] |
Chr9:134750631 [GRCh38]
Chr9:137642477 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.1569+16A>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001657775]|Fibromuscular dysplasia, multifocal [RCV001657776]|not specified [RCV000124420] |
Chr9:134750632 [GRCh38]
Chr9:137642478 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1935+8T>G |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277195]|Ehlers-Danlos syndrome type 7A [RCV000402508]|Ehlers-Danlos syndrome, classic type, 1 [RCV001507212]|Fibromuscular dysplasia, multifocal [RCV002269873]|not provided [RCV001812010]|not specified [RCV000124422] |
Chr9:134758304 [GRCh38]
Chr9:137650150 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.2089-9C>T |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277196]|Ehlers-Danlos syndrome, classic type, 1 [RCV002228273]|Fibromuscular dysplasia, multifocal [RCV002269874]|not specified [RCV000124423] |
Chr9:134766445 [GRCh38]
Chr9:137658291 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.2331+16G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000659446]|Ehlers-Danlos syndrome, classic type, 1 [RCV002055482]|not specified [RCV000124424] |
Chr9:134772850 [GRCh38]
Chr9:137664696 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|benign|uncertain significance |
| NM_000093.5(COL5A1):c.2430+20C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001657777]|Fibromuscular dysplasia, multifocal [RCV001657778]|not provided [RCV000588611]|not specified [RCV000124425] |
Chr9:134780166 [GRCh38]
Chr9:137672012 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2439C>T (p.Asp813=) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277197]|Ehlers-Danlos syndrome, classic type [RCV000232121]|Ehlers-Danlos syndrome, classic type, 1 [RCV001507240]|Ehlers-Danlos syndrome, classic type, 1 [RCV002498592]|Familial thoracic aortic aneurysm and aortic dissection [RCV002312832]|Fibromuscular dysplasia, multifocal [RCV002269875]|not provided [RCV002512061]|not specified [RCV000124426] |
Chr9:134782675 [GRCh38]
Chr9:137674521 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.2592+16C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002055483]|Fibromuscular dysplasia, multifocal [RCV002269876]|not provided [RCV001812011]|not specified [RCV000124427] |
Chr9:134785112 [GRCh38]
Chr9:137676958 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2724G>A (p.Pro908=) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277198]|Ehlers-Danlos syndrome type 7A [RCV000273068]|Ehlers-Danlos syndrome, classic type, 1 [RCV001507186]|Familial thoracic aortic aneurysm and aortic dissection [RCV002312833]|Fibromuscular dysplasia, multifocal [RCV002269877]|not provided [RCV000587689]|not specified [RCV000124428] |
Chr9:134795105 [GRCh38]
Chr9:137686951 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.2745+15A>T |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000330504]|Ehlers-Danlos syndrome, classic type, 1 [RCV002055484]|Fibromuscular dysplasia, multifocal [RCV002269878]|not provided [RCV000589030]|not specified [RCV000124429] |
Chr9:134795141 [GRCh38]
Chr9:137686987 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.2799+4T>C |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277199]|Ehlers-Danlos syndrome type 7A [RCV000387561]|Ehlers-Danlos syndrome, classic type, 1 [RCV000231500]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310682]|Fibromuscular dysplasia, multifocal [RCV002269879]|not provided [RCV003736587]|not specified [RCV000124430] |
Chr9:134795319 [GRCh38]
Chr9:137687165 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.2799+11G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV001286355]|Ehlers-Danlos syndrome, classic type, 1 [RCV002055485]|Fibromuscular dysplasia, multifocal [RCV002269880]|not specified [RCV000124431] |
Chr9:134795326 [GRCh38]
Chr9:137687172 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.2799+13C>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002055486]|Fibromuscular dysplasia, multifocal [RCV002269881]|not specified [RCV000124432] |
Chr9:134795328 [GRCh38]
Chr9:137687174 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2800-18C>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002055487]|Fibromuscular dysplasia, multifocal [RCV002269882]|not provided [RCV001812012]|not specified [RCV000124433] |
Chr9:134796356 [GRCh38]
Chr9:137688202 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2852A>G (p.Asn951Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277200]|Ehlers-Danlos syndrome type 7A [RCV000295553]|Ehlers-Danlos syndrome, classic type, 1 [RCV001507162]|Familial thoracic aortic aneurysm and aortic dissection [RCV002312834]|Fibromuscular dysplasia, multifocal [RCV002269883]|not provided [RCV001705906]|not specified [RCV000124434] |
Chr9:134796855 [GRCh38]
Chr9:137688701 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.2892C>T (p.Gly964=) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277201]|Ehlers-Danlos syndrome type 7A [RCV000352863]|Ehlers-Danlos syndrome, classic type, 1 [RCV001507111]|Familial thoracic aortic aneurysm and aortic dissection [RCV002312835]|Fibromuscular dysplasia, multifocal [RCV002269884]|not provided [RCV000587504]|not specified [RCV000124435] |
Chr9:134796895 [GRCh38]
Chr9:137688741 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.2952+11A>T |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000372518]|Ehlers-Danlos syndrome, classic type, 1 [RCV001657779]|Fibromuscular dysplasia, multifocal [RCV001657780]|not provided [RCV000589494]|not specified [RCV000124436] |
Chr9:134798472 [GRCh38]
Chr9:137690318 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3114+12G>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002055488]|Fibromuscular dysplasia, multifocal [RCV002269885]|not specified [RCV000124437] |
Chr9:134803007 [GRCh38]
Chr9:137694853 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000093.5(COL5A1):c.3474+7C>T |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277202]|Ehlers-Danlos syndrome, classic type [RCV000541852]|Ehlers-Danlos syndrome, classic type, 1 [RCV001507197]|not provided [RCV001508655]|not specified [RCV000124438] |
Chr9:134809297 [GRCh38]
Chr9:137701143 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.3591C>T (p.Asp1197=) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277203]|Ehlers-Danlos syndrome type 7A [RCV000270024]|Ehlers-Danlos syndrome, classic type [RCV001085089]|Ehlers-Danlos syndrome, classic type, 1 [RCV002228455]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310683]|not provided [RCV000634678]|not specified [RCV000124439] |
Chr9:134811500 [GRCh38]
Chr9:137703346 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.3745-18G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002055489]|Fibromuscular dysplasia, multifocal [RCV002269886]|not provided [RCV000585906]|not specified [RCV000124440] |
Chr9:134812587 [GRCh38]
Chr9:137704433 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3855C>T (p.Gly1285=) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277204]|Ehlers-Danlos syndrome, classic type [RCV001085673]|Ehlers-Danlos syndrome, classic type, 1 [RCV001507137]|Ehlers-Danlos syndrome, classic type, 1 [RCV002477329]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310684]|Fibromuscular dysplasia, multifocal [RCV002269887]|not provided [RCV000755497]|not specified [RCV000124441] |
Chr9:134813985 [GRCh38]
Chr9:137705831 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000093.5(COL5A1):c.3888G>A (p.Pro1296=) |
single nucleotide variant |
COL5A1-related condition [RCV003915245]|Ehlers-Danlos syndrome [RCV002277205]|Ehlers-Danlos syndrome, classic type, 1 [RCV000634667]|Familial thoracic aortic aneurysm and aortic dissection [RCV002312836]|Fibromuscular dysplasia, multifocal [RCV002269888]|not specified [RCV000124442] |
Chr9:134814018 [GRCh38]
Chr9:137705864 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.3906+10C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002228456]|not provided [RCV000724462]|not specified [RCV000225733] |
Chr9:134814046 [GRCh38]
Chr9:137705892 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.3906+20G>A |
single nucleotide variant |
Connective tissue disorder [RCV000659456]|Ehlers-Danlos syndrome, classic type, 1 [RCV002055490]|Fibromuscular dysplasia, multifocal [RCV002269889]|not provided [RCV003656627]|not specified [RCV000124444] |
Chr9:134814056 [GRCh38]
Chr9:137705902 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000093.5(COL5A1):c.4015-19C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002055491]|Fibromuscular dysplasia, multifocal [RCV002269890]|not specified [RCV000124445] |
Chr9:134815557 [GRCh38]
Chr9:137707403 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4065C>T (p.Pro1355=) |
single nucleotide variant |
Connective tissue disorder [RCV000659458]|Ehlers-Danlos syndrome [RCV002277206]|Ehlers-Danlos syndrome type 7A [RCV000277049]|Ehlers-Danlos syndrome, classic type [RCV000476252]|Ehlers-Danlos syndrome, classic type, 1 [RCV001507167]|Familial thoracic aortic aneurysm and aortic dissection [RCV002312837]|Fibromuscular dysplasia, multifocal [RCV002269891]|not provided [RCV003430688]|not specified [RCV000124446] |
Chr9:134815626 [GRCh38]
Chr9:137707472 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.4068+7G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000767944]|Ehlers-Danlos syndrome, classic type, 1 [RCV002228274]|Ehlers-Danlos syndrome, classic type, 1 [RCV003224162]|not specified [RCV000124447] |
Chr9:134815636 [GRCh38]
Chr9:137707482 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.4122G>A (p.Thr1374=) |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000315775]|Ehlers-Danlos syndrome, classic type, 1 [RCV001517576]|Familial thoracic aortic aneurysm and aortic dissection [RCV002312838]|Fibromuscular dysplasia, multifocal [RCV002269892]|not provided [RCV000587906]|not specified [RCV000124448] |
Chr9:134815988 [GRCh38]
Chr9:137707834 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.4135C>T (p.Pro1379Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277207]|Ehlers-Danlos syndrome type 7A [RCV000372978]|Ehlers-Danlos syndrome, classic type, 1 [RCV001507242]|Ehlers-Danlos syndrome, classic type, 1 [RCV002498593]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310685]|Fibromuscular dysplasia, multifocal [RCV002269893]|not provided [RCV000589919]|not specified [RCV000124449] |
Chr9:134817038 [GRCh38]
Chr9:137708884 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.4176+9T>G |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000280803]|Ehlers-Danlos syndrome, classic type, 1 [RCV001514467]|Fibromuscular dysplasia, multifocal [RCV001657781]|not provided [RCV000586391]|not specified [RCV000124450] |
Chr9:134817088 [GRCh38]
Chr9:137708934 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4230+5C>T |
single nucleotide variant |
Connective tissue disorder [RCV000659459]|Ehlers-Danlos syndrome [RCV002277208]|Ehlers-Danlos syndrome type 7A [RCV000376400]|Ehlers-Danlos syndrome, classic type [RCV000999971]|Ehlers-Danlos syndrome, classic type, 1 [RCV001507189]|Ehlers-Danlos syndrome, classic type, 2 [RCV001198807]|Familial thoracic aortic aneurysm and aortic dissection [RCV000157145]|Fibromuscular dysplasia, multifocal [RCV002269894]|not provided [RCV001705907]|not specified [RCV000124451] |
Chr9:134817836 [GRCh38]
Chr9:137709682 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000093.5(COL5A1):c.4230+6G>A |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277209]|Ehlers-Danlos syndrome type 7A [RCV000284390]|Ehlers-Danlos syndrome, classic type, 1 [RCV001507193]|Fibromuscular dysplasia, multifocal [RCV002269895]|not provided [RCV001812013]|not specified [RCV000124452] |
Chr9:134817837 [GRCh38]
Chr9:137709683 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.4231-12G>A |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000341699]|Ehlers-Danlos syndrome, classic type [RCV001001777]|Ehlers-Danlos syndrome, classic type, 1 [RCV002055492]|Fibromuscular dysplasia, multifocal [RCV002269896]|not provided [RCV001812014]|not specified [RCV000124453] |
Chr9:134818644 [GRCh38]
Chr9:137710490 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.4383C>T (p.Pro1461=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000860952]|Ehlers-Danlos syndrome, classic type, 1 [RCV002228275]|Familial thoracic aortic aneurysm and aortic dissection [RCV002312839]|Fibromuscular dysplasia, multifocal [RCV002269897]|not provided [RCV001200197]|not specified [RCV000124454] |
Chr9:134818892 [GRCh38]
Chr9:137710738 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000093.5(COL5A1):c.4393-17C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002055493]|Fibromuscular dysplasia, multifocal [RCV002269898]|not provided [RCV001812015]|not specified [RCV000124455] |
Chr9:134818983 [GRCh38]
Chr9:137710829 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4393-9C>T |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277210]|Ehlers-Danlos syndrome type 7A [RCV000406682]|Ehlers-Danlos syndrome, classic type, 1 [RCV001507119]|Fibromuscular dysplasia, multifocal [RCV002269899]|not provided [RCV001812016]|not specified [RCV000124456] |
Chr9:134818991 [GRCh38]
Chr9:137710837 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=) |
single nucleotide variant |
Connective tissue disorder [RCV000680509]|Ehlers-Danlos syndrome [RCV002277211]|Ehlers-Danlos syndrome type 7A [RCV000311390]|Ehlers-Danlos syndrome, classic type [RCV001082267]|Ehlers-Danlos syndrome, classic type, 1 [RCV001507125]|Ehlers-Danlos syndrome, classic type, 1 [RCV002505081]|Familial thoracic aortic aneurysm and aortic dissection [RCV002312840]|Fibromuscular dysplasia, multifocal [RCV002269900]|not provided [RCV000204098]|not specified [RCV000124457] |
Chr9:134819017 [GRCh38]
Chr9:137710863 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.4482G>A (p.Pro1494=) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277212]|Ehlers-Danlos syndrome type 7A [RCV000368361]|Ehlers-Danlos syndrome, classic type, 1 [RCV000204057]|Familial thoracic aortic aneurysm and aortic dissection [RCV002312841]|Fibromuscular dysplasia, multifocal [RCV002269901]|not provided [RCV000588041]|not specified [RCV000179202] |
Chr9:134820151 [GRCh38]
Chr9:137711997 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.4482G>C (p.Pro1494=) |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000405317]|Ehlers-Danlos syndrome, classic type, 1 [RCV001513762]|Familial thoracic aortic aneurysm and aortic dissection [RCV002312842]|Fibromuscular dysplasia, multifocal [RCV001657782]|not provided [RCV000590016]|not specified [RCV000124459] |
Chr9:134820151 [GRCh38]
Chr9:137711997 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4560C>T (p.Ile1520=) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277213]|Ehlers-Danlos syndrome type 7A [RCV000314817]|Ehlers-Danlos syndrome, classic type, 1 [RCV000474132]|Familial thoracic aortic aneurysm and aortic dissection [RCV002312843]|Fibromuscular dysplasia, multifocal [RCV002269902]|not provided [RCV000587106]|not specified [RCV000124460] |
Chr9:134822102 [GRCh38]
Chr9:137713948 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.4683A>C (p.Gly1561=) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277214]|Ehlers-Danlos syndrome type 7A [RCV000260729]|Ehlers-Danlos syndrome, classic type, 1 [RCV000459775]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311009]|Fibromuscular dysplasia, multifocal [RCV002269903]|not provided [RCV003221811]|not specified [RCV000124461] |
Chr9:134823454 [GRCh38]
Chr9:137715300 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.4698G>A (p.Pro1566=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002514667]|not provided [RCV000999277]|not specified [RCV000124462] |
Chr9:134823469 [GRCh38]
Chr9:137715315 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.4699-6C>T |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277215]|Ehlers-Danlos syndrome type 7A [RCV000318140]|Ehlers-Danlos syndrome, classic type [RCV000465287]|Ehlers-Danlos syndrome, classic type, 1 [RCV001507249]|Fibromuscular dysplasia, multifocal [RCV002269904]|not provided [RCV001812017]|not specified [RCV000124463] |
Chr9:134824594 [GRCh38]
Chr9:137716440 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.4955-16C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002055494]|Fibromuscular dysplasia, multifocal [RCV002269905]|not provided [RCV001812018]|not specified [RCV000124464] |
Chr9:134825776 [GRCh38]
Chr9:137717622 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.5034G>A (p.Ser1678=) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277216]|Ehlers-Danlos syndrome, classic type [RCV000474631]|Ehlers-Danlos syndrome, classic type, 1 [RCV002228276]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311010]|Fibromuscular dysplasia, multifocal [RCV002269906]|not specified [RCV000124465] |
Chr9:134825871 [GRCh38]
Chr9:137717717 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.5067+20C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002055495]|Fibromuscular dysplasia, multifocal [RCV002269907]|not provided [RCV001812019]|not specified [RCV000124466] |
Chr9:134825924 [GRCh38]
Chr9:137717770 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.5068-7T>C |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277217]|Ehlers-Danlos syndrome type 7A [RCV000378385]|Ehlers-Danlos syndrome, classic type [RCV000465837]|Ehlers-Danlos syndrome, classic type, 1 [RCV001507107]|Fibromuscular dysplasia, multifocal [RCV002269908]|not provided [RCV001812020]|not specified [RCV000124467] |
Chr9:134829969 [GRCh38]
Chr9:137721815 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.5137-12C>T |
single nucleotide variant |
COL5A1-related condition [RCV003891657]|Connective tissue disorder [RCV000659464]|Ehlers-Danlos syndrome type 7A [RCV000286500]|Ehlers-Danlos syndrome, classic type, 1 [RCV002055496]|Ehlers-Danlos syndrome, classic type, 1 [RCV002492456]|Fibromuscular dysplasia, multifocal [RCV002269909]|not provided [RCV001812021]|not specified [RCV000124468] |
Chr9:134834959 [GRCh38]
Chr9:137726805 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.5137-11T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000325078]|Ehlers-Danlos syndrome, classic type, 1 [RCV001522228]|Ehlers-Danlos syndrome, classic type, 1 [RCV002492457]|Fibromuscular dysplasia, multifocal [RCV002269910]|not provided [RCV003736588]|not specified [RCV000124469] |
Chr9:134834960 [GRCh38]
Chr9:137726806 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.5151C>T (p.Asp1717=) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277218]|Ehlers-Danlos syndrome type 7A [RCV000382000]|Ehlers-Danlos syndrome, classic type [RCV001000046]|Ehlers-Danlos syndrome, classic type, 1 [RCV001507179]|Ehlers-Danlos syndrome, classic type, 1 [RCV002492458]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310686]|Fibromuscular dysplasia, multifocal [RCV002269911]|not provided [RCV003654202]|not specified [RCV000124470] |
Chr9:134834985 [GRCh38]
Chr9:137726831 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.5190C>T (p.Phe1730=) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277219]|Ehlers-Danlos syndrome type 7A [RCV000290747]|Ehlers-Danlos syndrome, classic type, 1 [RCV001507126]|Familial thoracic aortic aneurysm and aortic dissection [RCV002312844]|Fibromuscular dysplasia, multifocal [RCV002269912]|not provided [RCV003654203]|not specified [RCV000124471] |
Chr9:134835024 [GRCh38]
Chr9:137726870 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.5250G>A (p.Val1750=) |
single nucleotide variant |
COL5A1-related condition [RCV003915246]|Ehlers-Danlos syndrome [RCV002277220]|Ehlers-Danlos syndrome, classic type, 1 [RCV002228277]|Familial thoracic aortic aneurysm and aortic dissection [RCV002336273]|Fibromuscular dysplasia, multifocal [RCV002269913]|not provided [RCV000755974]|not specified [RCV000124472] |
Chr9:134835084 [GRCh38]
Chr9:137726930 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.5270C>T (p.Thr1757Met) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277221]|Ehlers-Danlos syndrome type 7A [RCV000407995]|Ehlers-Danlos syndrome, classic type [RCV000466128]|Ehlers-Danlos syndrome, classic type, 1 [RCV001507183]|Familial thoracic aortic aneurysm and aortic dissection [RCV002312845]|Fibromuscular dysplasia, multifocal [RCV002269914]|not provided [RCV000586099]|not specified [RCV000124473] |
Chr9:134835104 [GRCh38]
Chr9:137726950 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.5407G>A (p.Asp1803Asn) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277222]|Ehlers-Danlos syndrome, classic type, 1 [RCV001507164]|Ehlers-Danlos syndrome, classic type, 1 [RCV002483245]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311011]|Fibromuscular dysplasia, multifocal [RCV002269915]|not provided [RCV003103731]|not specified [RCV000124474] |
Chr9:134842193 [GRCh38]
Chr9:137734039 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.4(COL5A1):c.14C>T (p.Thr5Ile) |
single nucleotide variant |
not provided [RCV000124475] |
Chr9:134642201 [GRCh38]
Chr9:137534047 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.252C>T (p.Ser84=) |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000272105]|Ehlers-Danlos syndrome, classic type [RCV000634651]|Ehlers-Danlos syndrome, classic type, 1 [RCV001507154]|Familial thoracic aortic aneurysm and aortic dissection [RCV002312846]|Fibromuscular dysplasia, multifocal [RCV002269916]|not specified [RCV000124476] |
Chr9:134691054 [GRCh38]
Chr9:137582900 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.378G>T (p.Gln126His) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277223]|Ehlers-Danlos syndrome type 7A [RCV000332566]|Ehlers-Danlos syndrome, classic type, 1 [RCV000230136]|Ehlers-Danlos syndrome, classic type, 1 [RCV002505082]|Familial thoracic aortic aneurysm and aortic dissection [RCV002312847]|Fibromuscular dysplasia, multifocal [RCV002269917]|not specified [RCV000124477] |
Chr9:134700009 [GRCh38]
Chr9:137591855 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.573C>T (p.Leu191=) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277224]|Ehlers-Danlos syndrome type 7A [RCV000278708]|Ehlers-Danlos syndrome, classic type [RCV001001836]|Ehlers-Danlos syndrome, classic type, 1 [RCV001507232]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310687]|Fibromuscular dysplasia, multifocal [RCV002269918]|not provided [RCV003422011]|not specified [RCV000124478] |
Chr9:134701252 [GRCh38]
Chr9:137593098 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.574G>A (p.Asp192Asn) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277225]|Ehlers-Danlos syndrome type 7A [RCV000319752]|Ehlers-Danlos syndrome, classic type [RCV000226247]|Ehlers-Danlos syndrome, classic type, 1 [RCV001507169]|Familial thoracic aortic aneurysm and aortic dissection [RCV002312848]|Fibromuscular dysplasia, multifocal [RCV002269919]|not provided [RCV000588510]|not specified [RCV000124479] |
Chr9:134701253 [GRCh38]
Chr9:137593099 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.-37G>A |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000405541]|Ehlers-Danlos syndrome, classic type [RCV001169655]|Ehlers-Danlos syndrome, classic type, 1 [RCV002269920]|Fibromuscular dysplasia, multifocal [RCV002269921]|not provided [RCV001812022]|not specified [RCV000124480] |
Chr9:134642151 [GRCh38]
Chr9:137533997 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.738C>T (p.Thr246=) |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000374462]|Ehlers-Danlos syndrome, classic type, 1 [RCV001513760]|Familial thoracic aortic aneurysm and aortic dissection [RCV002312849]|Fibromuscular dysplasia, multifocal [RCV001657783]|not provided [RCV000589836]|not specified [RCV000124481] |
Chr9:134727349 [GRCh38]
Chr9:137619195 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.-15C>A |
single nucleotide variant |
not specified [RCV000124482] |
Chr9:134642173 [GRCh38]
Chr9:137534019 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.787-15G>A |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000393073]|Ehlers-Danlos syndrome, classic type [RCV000659440]|Ehlers-Danlos syndrome, classic type, 1 [RCV002055497]|not provided [RCV000586891]|not specified [RCV000124483] |
Chr9:134728655 [GRCh38]
Chr9:137620501 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.924+14G>A |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000403482]|Ehlers-Danlos syndrome, classic type [RCV001165742]|Ehlers-Danlos syndrome, classic type, 1 [RCV002055498]|not specified [RCV000124484] |
Chr9:134728821 [GRCh38]
Chr9:137620667 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.1062C>T (p.Asp354=) |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000369207]|Ehlers-Danlos syndrome, classic type, 1 [RCV000461997]|Familial thoracic aortic aneurysm and aortic dissection [RCV002312850]|Fibromuscular dysplasia, multifocal [RCV002269922]|not specified [RCV000124485] |
Chr9:134730373 [GRCh38]
Chr9:137622219 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.1092C>T (p.Pro364=) |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000315998]|Ehlers-Danlos syndrome, classic type, 1 [RCV000469094]|Familial thoracic aortic aneurysm and aortic dissection [RCV002312851]|Fibromuscular dysplasia, multifocal [RCV002269923]|not provided [RCV000586773]|not specified [RCV000124486] |
Chr9:134730403 [GRCh38]
Chr9:137622249 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1224G>C (p.Thr408=) |
single nucleotide variant |
COL5A1-related condition [RCV003952648]|Ehlers-Danlos syndrome [RCV002277226]|Ehlers-Danlos syndrome type 7A [RCV000261885]|Ehlers-Danlos syndrome, classic type [RCV001079755]|Ehlers-Danlos syndrome, classic type, 1 [RCV002228278]|Familial thoracic aortic aneurysm and aortic dissection [RCV002362756]|not provided [RCV000762588]|not specified [RCV000124487] |
Chr9:134731555 [GRCh38]
Chr9:137623401 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.1333-8A>G |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000286839]|Ehlers-Danlos syndrome, classic type [RCV001001465]|Ehlers-Danlos syndrome, classic type, 1 [RCV001507231]|Ehlers-Danlos syndrome, classic type, 1 [RCV002498594]|Fibromuscular dysplasia, multifocal [RCV002269924]|not provided [RCV001812023]|not specified [RCV000124488] |
Chr9:134732063 [GRCh38]
Chr9:137623909 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.1431G>A (p.Ala477=) |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000288071]|Ehlers-Danlos syndrome, classic type [RCV000473739]|Ehlers-Danlos syndrome, classic type, 1 [RCV001507117]|Familial thoracic aortic aneurysm and aortic dissection [RCV002312852]|Fibromuscular dysplasia, multifocal [RCV002269925]|not provided [RCV000588822]|not specified [RCV000124489] |
Chr9:134738515 [GRCh38]
Chr9:137630361 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1432-5T>C |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000347732]|Ehlers-Danlos syndrome, classic type, 1 [RCV001513761]|Familial thoracic aortic aneurysm and aortic dissection [RCV002312853]|Fibromuscular dysplasia, multifocal [RCV001657784]|not provided [RCV000590815]|not specified [RCV000124490] |
Chr9:134738741 [GRCh38]
Chr9:137630587 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.401G>A (p.Arg134His) |
single nucleotide variant |
Connective tissue disorder [RCV000659437]|Ehlers-Danlos syndrome, classic type, 1 [RCV002536340]|not provided [RCV002261164]|not specified [RCV003226351] |
Chr9:134700032 [GRCh38]
Chr9:137591878 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3595G>A (p.Glu1199Lys) |
single nucleotide variant |
Connective tissue disorder [RCV000659453]|Ehlers-Danlos syndrome, classic type, 1 [RCV001258203]|Familial thoracic aortic aneurysm and aortic dissection [RCV002458173]|not provided [RCV000788699] |
Chr9:134811504 [GRCh38]
Chr9:137703350 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1663-1G>C |
single nucleotide variant |
not provided [RCV000174659] |
Chr9:134752588 [GRCh38]
Chr9:137644434 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.240C>T (p.Asp80=) |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000366456]|Ehlers-Danlos syndrome, classic type [RCV000466242]|Ehlers-Danlos syndrome, classic type, 1 [RCV001507230]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314610]|Fibromuscular dysplasia, multifocal [RCV002269940]|not specified [RCV000175521] |
Chr9:134691042 [GRCh38]
Chr9:137582888 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.3055C>G (p.Pro1019Ala) |
single nucleotide variant |
Malignant tumor of prostate [RCV000148992] |
Chr9:134802936 [GRCh38]
Chr9:137694782 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2695G>A (p.Gly899Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV000539010]|Ehlers-Danlos syndrome, classic type, 1 [RCV002500499]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314633]|Fibromuscular dysplasia, multifocal [RCV002269960]|not provided [RCV001535402]|not specified [RCV000177591] |
Chr9:134789203 [GRCh38]
Chr9:137681049 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.3781G>A (p.Gly1261Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002517740]|not provided [RCV000178644] |
Chr9:134812641 [GRCh38]
Chr9:137704487 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|uncertain significance |
| NM_000093.5(COL5A1):c.4184del (p.Pro1395fs) |
deletion |
COL5A1-related condition [RCV003398899]|not provided [RCV000179137] |
Chr9:134817781 [GRCh38]
Chr9:137709627 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic |
| NM_000093.5(COL5A1):c.3204+3G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000576402]|Ehlers-Danlos syndrome, classic type, 1 [RCV001507248]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314644]|not provided [RCV001704851]|not specified [RCV000178422] |
Chr9:134805067 [GRCh38]
Chr9:137696913 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.4068+9T>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240879] |
Chr9:134815638 [GRCh38]
Chr9:137707484 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4005A>G (p.Lys1335=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002108872] |
Chr9:134814895 [GRCh38]
Chr9:137706741 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.67CTG[9] (p.Leu26_Leu28dup) |
microsatellite |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242390]|not provided [RCV003234053] |
Chr9:134642252..134642253 [GRCh38]
Chr9:137534098..137534099 [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_000093.5(COL5A1):c.4474G>T (p.Gly1492Cys) |
single nucleotide variant |
not provided [RCV001310683] |
Chr9:134820143 [GRCh38]
Chr9:137711989 [GRCh37]
Chr9:9q34.3 |
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 9q34.2-34.3(chr9:134492275-135456038)x3 |
copy number gain |
See cases [RCV000136609] |
Chr9:134492275..135456038 [GRCh38]
Chr9:137384121..138347884 [GRCh37]
Chr9:136523942..137487705 [NCBI36]
Chr9:9q34.2-34.3 |
uncertain significance |
| 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 |
| NM_000093.5(COL5A1):c.1896C>T (p.Phe632=) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277351]|Ehlers-Danlos syndrome, classic type, 1 [RCV002228784]|Familial thoracic aortic aneurysm and aortic dissection [RCV002408760]|not provided [RCV000724517]|not specified [RCV000225726] |
Chr9:134758257 [GRCh38]
Chr9:137650103 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| 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 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 9q34.3(chr9:134543703-134725867)x1 |
copy number loss |
See cases [RCV000142231] |
Chr9:134543703..134725867 [GRCh38]
Chr9:137435549..137617713 [GRCh37]
Chr9:136575370..136757534 [NCBI36]
Chr9:9q34.3 |
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 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 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_000093.5(COL5A1):c.514G>T (p.Val172Phe) |
single nucleotide variant |
Aortic valve disease 1 [RCV000157144]|COL5A1-related condition [RCV003907484]|Connective tissue disorder [RCV000659439]|Ehlers-Danlos syndrome, classic type [RCV001085122]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229378]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313004]|not provided [RCV000199784]|not specified [RCV003235074] |
Chr9:134701193 [GRCh38]
Chr9:137593039 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.4928A>G (p.Gln1643Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229379]|Familial thoracic aortic aneurysm and aortic dissection [RCV000157146]|not provided [RCV003151750] |
Chr9:134824829 [GRCh38]
Chr9:137716675 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr) |
single nucleotide variant |
Connective tissue disorder [RCV000659465]|Ehlers-Danlos syndrome [RCV002277312]|Ehlers-Danlos syndrome, classic type [RCV001000409]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229380]|Familial thoracic aortic aneurysm and aortic dissection [RCV000157147]|not provided [RCV000724350]|not specified [RCV003330515] |
Chr9:134835184 [GRCh38]
Chr9:137727030 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.4234G>A (p.Glu1412Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002228794]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314655]|not provided [RCV000179160] |
Chr9:134818659 [GRCh38]
Chr9:137710505 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.805G>A (p.Glu269Lys) |
single nucleotide variant |
COL5A1-related condition [RCV003947525]|Ehlers-Danlos syndrome type 7A [RCV000403793]|Ehlers-Danlos syndrome, classic type [RCV000818780]|Ehlers-Danlos syndrome, classic type, 1 [RCV002228795]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311031]|not provided [RCV000724142] |
Chr9:134728688 [GRCh38]
Chr9:137620534 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.1383C>T (p.Ile461=) |
single nucleotide variant |
COL5A1-related condition [RCV003955097]|Ehlers-Danlos syndrome [RCV002277432]|Ehlers-Danlos syndrome type 7A [RCV000382468]|Ehlers-Danlos syndrome, classic type [RCV001000020]|Ehlers-Danlos syndrome, classic type, 1 [RCV001507203]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314675]|not provided [RCV000724380]|not specified [RCV000225711] |
Chr9:134732121 [GRCh38]
Chr9:137623967 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.2593-3C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002228621]|not provided [RCV000724609]|not specified [RCV000177507] |
Chr9:134785992 [GRCh38]
Chr9:137677838 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.3069C>T (p.Pro1023=) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277397]|Ehlers-Danlos syndrome type 7A [RCV000337223]|Ehlers-Danlos syndrome, classic type [RCV001078638]|Ehlers-Danlos syndrome, classic type, 1 [RCV001507138]|Familial thoracic aortic aneurysm and aortic dissection [RCV002444711]|not provided [RCV000724140] |
Chr9:134802950 [GRCh38]
Chr9:137694796 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.406C>T (p.Pro136Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000191074]|Ehlers-Danlos syndrome, classic type, 1 [RCV002228828]|Familial thoracic aortic aneurysm and aortic dissection [RCV002321771]|not provided [RCV001753592] |
Chr9:134700037 [GRCh38]
Chr9:137591883 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.1970C>T (p.Pro657Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277490]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229463]|Familial thoracic aortic aneurysm and aortic dissection [RCV002415835]|not provided [RCV001579645] |
Chr9:134761959 [GRCh38]
Chr9:137653805 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.4474G>A (p.Gly1492Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229055]|not provided [RCV000200200] |
Chr9:134820143 [GRCh38]
Chr9:137711989 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000093.5(COL5A1):c.3691-9T>C |
single nucleotide variant |
Connective tissue disorder [RCV000659454]|Ehlers-Danlos syndrome [RCV002277466]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229035]|Fibromuscular dysplasia, multifocal [RCV002269993]|not provided [RCV001701556]|not specified [RCV000200238] |
Chr9:134812440 [GRCh38]
Chr9:137704286 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000093.5(COL5A1):c.3247C>T (p.Pro1083Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000341052]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229047]|Familial thoracic aortic aneurysm and aortic dissection [RCV003165443]|not provided [RCV000200293] |
Chr9:134805203 [GRCh38]
Chr9:137697049 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.4643C>T (p.Ser1548Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277481]|Ehlers-Danlos syndrome, classic type [RCV000634583]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229058]|Familial thoracic aortic aneurysm and aortic dissection [RCV002327031]|not provided [RCV000200315] |
Chr9:134823032 [GRCh38]
Chr9:137714878 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.5335A>G (p.Asn1779Asp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV001470053]|Familial thoracic aortic aneurysm and aortic dissection [RCV003298252]|not provided [RCV000200330] |
Chr9:134835169 [GRCh38]
Chr9:137727015 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.790A>C (p.Thr264Pro) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002228837]|not provided [RCV001508649] |
Chr9:134728673 [GRCh38]
Chr9:137620519 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.1388C>T (p.Pro463Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229461]|not provided [RCV003441775] |
Chr9:134732126 [GRCh38]
Chr9:137623972 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4906G>A (p.Ala1636Thr) |
single nucleotide variant |
COL5A1-related condition [RCV003967512]|Ehlers-Danlos syndrome [RCV002277494]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229466]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315563]|not provided [RCV000724954] |
Chr9:134824807 [GRCh38]
Chr9:137716653 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.3203T>G (p.Val1068Gly) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277477]|Ehlers-Danlos syndrome, classic type, 1 [RCV002228845]|Familial thoracic aortic aneurysm and aortic dissection [RCV002321782]|not provided [RCV000766817]|not specified [RCV000196527] |
Chr9:134805063 [GRCh38]
Chr9:137696909 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.598G>A (p.Asp200Asn) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277485]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229068]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315557]|not provided [RCV001721266]|not specified [RCV000196539] |
Chr9:134701277 [GRCh38]
Chr9:137593123 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.3345G>A (p.Pro1115=) |
single nucleotide variant |
COL5A1-related condition [RCV003977535]|Ehlers-Danlos syndrome type 7A [RCV000404216]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229034]|Familial thoracic aortic aneurysm and aortic dissection [RCV002321781]|not provided [RCV001726040]|not specified [RCV000196548] |
Chr9:134806275 [GRCh38]
Chr9:137698121 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.4288G>A (p.Ala1430Thr) |
single nucleotide variant |
not provided [RCV000196651] |
Chr9:134818713 [GRCh38]
Chr9:137710559 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4794C>T (p.Gly1598=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758717]|Familial thoracic aortic aneurysm and aortic dissection [RCV002327033]|not provided [RCV000196655] |
Chr9:134824695 [GRCh38]
Chr9:137716541 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.431C>T (p.Thr144Met) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229037]|not provided [RCV001721265] |
Chr9:134700062 [GRCh38]
Chr9:137591908 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.4892C>G (p.Thr1631Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593934]|not provided [RCV000196702] |
Chr9:134824793 [GRCh38]
Chr9:137716639 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.3291C>T (p.Ala1097=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002269991]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311034]|Fibromuscular dysplasia, multifocal [RCV002269992]|not specified [RCV000200448] |
Chr9:134806221 [GRCh38]
Chr9:137698067 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.149A>G (p.Asn50Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229458]|Familial thoracic aortic aneurysm and aortic dissection [RCV002390512]|not provided [RCV000200457] |
Chr9:134690951 [GRCh38]
Chr9:137582797 [GRCh37]
Chr9:9q34.3 |
pathogenic|benign|uncertain significance |
| NM_000093.5(COL5A1):c.2032C>T (p.Pro678Ser) |
single nucleotide variant |
not provided [RCV000200471] |
Chr9:134763735 [GRCh38]
Chr9:137655581 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.934C>G (p.Pro312Ala) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002228838]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315535]|not specified [RCV000200496] |
Chr9:134730245 [GRCh38]
Chr9:137622091 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.3622C>T (p.Leu1208Phe) |
single nucleotide variant |
not provided [RCV000200539] |
Chr9:134811531 [GRCh38]
Chr9:137703377 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.4(COL5A1):c.1332G>A (p.Gly444=) |
single nucleotide variant |
not provided [RCV000200548] |
Chr9:134731663 [GRCh38]
Chr9:137623509 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.1805C>T (p.Pro602Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002228842]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315541]|not provided [RCV000200619] |
Chr9:134754304 [GRCh38]
Chr9:137646150 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.1935+12C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002057021]|Fibromuscular dysplasia, multifocal [RCV002269976]|not specified [RCV000200653] |
Chr9:134758308 [GRCh38]
Chr9:137650154 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.5395G>A (p.Val1799Ile) |
single nucleotide variant |
not provided [RCV000200680] |
Chr9:134842181 [GRCh38]
Chr9:137734027 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|uncertain significance |
| NM_000093.5(COL5A1):c.4283del (p.Gln1428fs) |
deletion |
not provided [RCV000196736] |
Chr9:134818708 [GRCh38]
Chr9:137710554 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.3013A>G (p.Thr1005Ala) |
single nucleotide variant |
not provided [RCV000196742] |
Chr9:134802894 [GRCh38]
Chr9:137694740 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4139C>A (p.Thr1380Asn) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229446]|not specified [RCV000196780] |
Chr9:134817042 [GRCh38]
Chr9:137708888 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.157G>C (p.Asp53His) |
single nucleotide variant |
not provided [RCV000196786] |
Chr9:134690959 [GRCh38]
Chr9:137582805 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2555A>T (p.Asn852Ile) |
single nucleotide variant |
Connective tissue disorder [RCV000659447]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229464]|not provided [RCV000196815] |
Chr9:134785059 [GRCh38]
Chr9:137676905 [GRCh37]
Chr9:9q34.3 |
pathogenic|benign|uncertain significance |
| NM_000093.5(COL5A1):c.3350G>C (p.Gly1117Ala) |
single nucleotide variant |
not provided [RCV000196835] |
Chr9:134806280 [GRCh38]
Chr9:137698126 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.4753C>T (p.Arg1585Trp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000228177]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229060]|not provided [RCV000196862] |
Chr9:134824654 [GRCh38]
Chr9:137716500 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.2894C>T (p.Pro965Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229074]|not provided [RCV000196867] |
Chr9:134796897 [GRCh38]
Chr9:137688743 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1590C>T (p.Gly530=) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277463]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229443]|Familial thoracic aortic aneurysm and aortic dissection [RCV003372647]|Fibromuscular dysplasia, multifocal [RCV002269975]|not specified [RCV000196875] |
Chr9:134750810 [GRCh38]
Chr9:137642656 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.4554+5G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229056]|Familial thoracic aortic aneurysm and aortic dissection [RCV002336522]|not provided [RCV000196959] |
Chr9:134820228 [GRCh38]
Chr9:137712074 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3905C>T (p.Pro1302Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277467]|Ehlers-Danlos syndrome, classic type, 1 [RCV002228835]|not provided [RCV000196987] |
Chr9:134814035 [GRCh38]
Chr9:137705881 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.2483G>A (p.Arg828Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002228860]|Familial thoracic aortic aneurysm and aortic dissection [RCV002426929]|not provided [RCV000200762] |
Chr9:134782719 [GRCh38]
Chr9:137674565 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3299C>T (p.Pro1100Leu) |
single nucleotide variant |
COL5A1-related condition [RCV003967509]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229049]|Familial thoracic aortic aneurysm and aortic dissection [RCV002321784] |
Chr9:134806229 [GRCh38]
Chr9:137698075 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.3906+19C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002057023]|Fibromuscular dysplasia, multifocal [RCV002269995]|not provided [RCV003736632]|not specified [RCV000200773] |
Chr9:134814055 [GRCh38]
Chr9:137705901 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000093.5(COL5A1):c.2734C>T (p.Arg912Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229465]|not provided [RCV000200816] |
Chr9:134795115 [GRCh38]
Chr9:137686961 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.1147A>G (p.Thr383Ala) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229071]|not provided [RCV000200840] |
Chr9:134730458 [GRCh38]
Chr9:137622304 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.1688C>T (p.Pro563Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001857713]|not provided [RCV000200849] |
Chr9:134752614 [GRCh38]
Chr9:137644460 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.292G>A (p.Glu98Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000697085]|Ehlers-Danlos syndrome, classic type, 1 [RCV002228850]|not provided [RCV000196999] |
Chr9:134699923 [GRCh38]
Chr9:137591769 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.1281G>A (p.Pro427=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV000471369]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311036]|Fibromuscular dysplasia, multifocal [RCV002270008]|not specified [RCV000197035] |
Chr9:134731612 [GRCh38]
Chr9:137623458 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.4652C>T (p.Thr1551Ile) |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000353197]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229455]|Familial thoracic aortic aneurysm and aortic dissection [RCV002336523]|not provided [RCV000197090] |
Chr9:134823423 [GRCh38]
Chr9:137715269 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.804C>T (p.Gly268=) |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000343839]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229038]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315534]|not provided [RCV000725830]|not specified [RCV000197127] |
Chr9:134728687 [GRCh38]
Chr9:137620533 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.2038C>T (p.Pro680Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001853132]|Familial thoracic aortic aneurysm and aortic dissection [RCV002415833]|not provided [RCV000766814]|not specified [RCV000197159] |
Chr9:134765684 [GRCh38]
Chr9:137657530 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|benign|uncertain significance |
| NM_000093.5(COL5A1):c.65C>A (p.Pro22Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758714]|not provided [RCV000197175] |
Chr9:134642252 [GRCh38]
Chr9:137534098 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.191C>T (p.Thr64Met) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002228849]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315554]|not provided [RCV000197223]|not specified [RCV003323440] |
Chr9:134690993 [GRCh38]
Chr9:137582839 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|benign|uncertain significance |
| NM_000093.5(COL5A1):c.996C>T (p.Asp332=) |
single nucleotide variant |
Connective tissue disorder [RCV000680502]|Ehlers-Danlos syndrome type 7A [RCV000314504]|Ehlers-Danlos syndrome, classic type [RCV001001614]|Ehlers-Danlos syndrome, classic type, 1 [RCV001507143]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310765]|Fibromuscular dysplasia, multifocal [RCV002270005]|not provided [RCV002262792]|not specified [RCV000197255] |
Chr9:134730307 [GRCh38]
Chr9:137622153 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000093.5(COL5A1):c.5028G>T (p.Gly1676=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229079]|not provided [RCV000197275] |
Chr9:134825865 [GRCh38]
Chr9:137717711 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.1345C>T (p.Arg449Trp) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277489]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229072]|Familial thoracic aortic aneurysm and aortic dissection [RCV002381664]|not provided [RCV000197283] |
Chr9:134732083 [GRCh38]
Chr9:137623929 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.3770G>A (p.Arg1257Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229453]|not provided [RCV000197289] |
Chr9:134812630 [GRCh38]
Chr9:137704476 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.4393-19C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002057024]|Fibromuscular dysplasia, multifocal [RCV002269998]|not provided [RCV001812190]|not specified [RCV000197311] |
Chr9:134818981 [GRCh38]
Chr9:137710827 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.1831C>T (p.Arg611Trp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002228843]|Ehlers-Danlos syndrome, classic type, 2 [RCV001249369]|not provided [RCV001705094] |
Chr9:134756768 [GRCh38]
Chr9:137648614 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000093.5(COL5A1):c.1953C>T (p.Ser651=) |
single nucleotide variant |
COL5A1-related condition [RCV003927814]|Ehlers-Danlos syndrome, classic type, 1 [RCV002269977]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315526]|Fibromuscular dysplasia, multifocal [RCV002269978]|not provided [RCV001812188]|not specified [RCV000197394] |
Chr9:134761942 [GRCh38]
Chr9:137653788 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.5468C>T (p.Ala1823Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229067]|Familial thoracic aortic aneurysm and aortic dissection [RCV002345698]|not provided [RCV000197444] |
Chr9:134842254 [GRCh38]
Chr9:137734100 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.2947G>A (p.Glu983Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277476]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229045]|Ehlers-Danlos syndrome, classic type, 1 [RCV002478680]|not provided [RCV000197473] |
Chr9:134798456 [GRCh38]
Chr9:137690302 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.367C>G (p.Gln123Glu) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277484]|Ehlers-Danlos syndrome type 7A [RCV000277979]|Ehlers-Danlos syndrome, classic type [RCV000233603]|Ehlers-Danlos syndrome, classic type, 1 [RCV002228851]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315556]|not provided [RCV000197525] |
Chr9:134699998 [GRCh38]
Chr9:137591844 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.5357dup (p.Asp1787fs) |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV002492887]|not provided [RCV000197580] |
Chr9:134835190..134835191 [GRCh38]
Chr9:137727036..137727037 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic |
| NM_000093.5(COL5A1):c.3110C>T (p.Thr1037Met) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002228844]|Ehlers-Danlos syndrome, classic type, 1 [RCV002492885]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315544]|not provided [RCV000197609] |
Chr9:134802991 [GRCh38]
Chr9:137694837 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.2268C>T (p.Pro756=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229033]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315528]|Fibromuscular dysplasia, multifocal [RCV002269985]|not specified [RCV000197632] |
Chr9:134768445 [GRCh38]
Chr9:137660291 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|benign|likely benign |
| NM_000093.5(COL5A1):c.4613C>T (p.Pro1538Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001853135]|Familial thoracic aortic aneurysm and aortic dissection [RCV003165446]|not provided [RCV000197699] |
Chr9:134823002 [GRCh38]
Chr9:137714848 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.2354C>T (p.Pro785Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000536311]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229452]|Ehlers-Danlos syndrome, classic type, 1 [RCV003224217]|not provided [RCV000197703] |
Chr9:134774881 [GRCh38]
Chr9:137666727 [GRCh37]
Chr9:9q34.3 |
pathogenic|benign|uncertain significance |
| NM_000093.5(COL5A1):c.4240G>A (p.Gly1414Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000659460]|Ehlers-Danlos syndrome, classic type, 1 [RCV003114350]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315547]|not provided [RCV000755968] |
Chr9:134818665 [GRCh38]
Chr9:137710511 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.2398A>G (p.Ile800Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229445]|Familial thoracic aortic aneurysm and aortic dissection [RCV002444787]|not specified [RCV000197756] |
Chr9:134780114 [GRCh38]
Chr9:137671960 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.2784del (p.Lys929fs) |
deletion |
not provided [RCV000197781] |
Chr9:134795298 [GRCh38]
Chr9:137687144 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.4175G>A (p.Arg1392Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002492888]|Ehlers-Danlos syndrome, classic type, 1 [RCV002517172]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315562]|not provided [RCV000197819] |
Chr9:134817078 [GRCh38]
Chr9:137708924 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4879C>T (p.Arg1627Trp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000791851]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229063]|Ehlers-Danlos syndrome, classic type, 1 [RCV003224219]|Familial thoracic aortic aneurysm and aortic dissection [RCV002336525]|not provided [RCV000197869] |
Chr9:134824780 [GRCh38]
Chr9:137716626 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|benign|uncertain significance |
| NM_000093.5(COL5A1):c.2031G>A (p.Glu677=) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277464]|Ehlers-Danlos syndrome type 7A [RCV000356591]|Ehlers-Danlos syndrome, classic type [RCV000234447]|Ehlers-Danlos syndrome, classic type, 1 [RCV001507115]|Ehlers-Danlos syndrome, classic type, 1 [RCV002500598]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315527]|Fibromuscular dysplasia, multifocal [RCV002269982]|not provided [RCV001795315]|not specified [RCV000197871] |
Chr9:134763734 [GRCh38]
Chr9:137655580 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|benign|likely benign |
| NM_000093.5(COL5A1):c.110-19T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002054287]|Fibromuscular dysplasia, multifocal [RCV002270002]|not specified [RCV000197882] |
Chr9:134690893 [GRCh38]
Chr9:137582739 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000093.5(COL5A1):c.2159dup (p.Gly721fs) |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV001857716]|not provided [RCV000197899] |
Chr9:134767019..134767020 [GRCh38]
Chr9:137658865..137658866 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.4068G>A (p.Ala1356=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000808435]|Ehlers-Danlos syndrome, classic type, 1 [RCV002228846]|not provided [RCV000197960] |
Chr9:134815629 [GRCh38]
Chr9:137707475 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.4783G>A (p.Asp1595Asn) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002515349]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315551]|not provided [RCV000198003] |
Chr9:134824684 [GRCh38]
Chr9:137716530 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.476A>G (p.Asn159Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002228852]|Familial thoracic aortic aneurysm and aortic dissection [RCV002327032] |
Chr9:134700107 [GRCh38]
Chr9:137591953 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.1283C>T (p.Ser428Leu) |
single nucleotide variant |
Connective tissue disorder [RCV000680503]|Ehlers-Danlos syndrome, classic type, 1 [RCV002228863]|not provided [RCV000198034] |
Chr9:134731614 [GRCh38]
Chr9:137623460 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.1507C>T (p.Arg503Cys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229449]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315538]|not provided [RCV000198035] |
Chr9:134750554 [GRCh38]
Chr9:137642400 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.727G>A (p.Asp243Asn) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229069]|not provided [RCV000198064] |
Chr9:134727338 [GRCh38]
Chr9:137619184 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.3936C>T (p.Gly1312=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229051]|not provided [RCV000198091] |
Chr9:134814826 [GRCh38]
Chr9:137706672 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.3788C>T (p.Pro1263Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758716]|Familial thoracic aortic aneurysm and aortic dissection [RCV002363003]|not provided [RCV000198117] |
Chr9:134812648 [GRCh38]
Chr9:137704494 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.5266G>A (p.Ala1756Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758713]|Familial thoracic aortic aneurysm and aortic dissection [RCV002345697]|not specified [RCV000198131] |
Chr9:134835100 [GRCh38]
Chr9:137726946 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.4804G>A (p.Val1602Met) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229078]|Familial thoracic aortic aneurysm and aortic dissection [RCV002336527]|not provided [RCV000198173] |
Chr9:134824705 [GRCh38]
Chr9:137716551 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.4307C>T (p.Pro1436Leu) |
single nucleotide variant |
Connective tissue disorder [RCV000659461]|Ehlers-Danlos syndrome, classic type [RCV003483570]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229054]|Ehlers-Danlos syndrome, classic type, 1 [RCV002500601]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315548]|not provided [RCV000198189] |
Chr9:134818732 [GRCh38]
Chr9:137710578 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance|not provided |
| NM_000093.5(COL5A1):c.514G>A (p.Val172Ile) |
single nucleotide variant |
COL5A1-related condition [RCV003955180]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229448]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315533]|not provided [RCV000198204] |
Chr9:134701193 [GRCh38]
Chr9:137593039 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.145C>T (p.His49Tyr) |
single nucleotide variant |
Abnormal bleeding [RCV001270606]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229457]|not provided [RCV000415868] |
Chr9:134690947 [GRCh38]
Chr9:137582793 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.4892C>T (p.Thr1631Met) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000703884]|Ehlers-Danlos syndrome, classic type, 1 [RCV002225095]|not provided [RCV000198222] |
Chr9:134824793 [GRCh38]
Chr9:137716639 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.2844+20G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002269989]|Fibromuscular dysplasia, multifocal [RCV002269990]|not specified [RCV000198227] |
Chr9:134796438 [GRCh38]
Chr9:137688284 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000093.5(COL5A1):c.5097C>G (p.Asn1699Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229064]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315552]|not provided [RCV000762591] |
Chr9:134830005 [GRCh38]
Chr9:137721851 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.1303C>G (p.Pro435Ala) |
single nucleotide variant |
Abnormal bleeding [RCV000852013]|Ehlers-Danlos syndrome [RCV002277488]|Ehlers-Danlos syndrome, classic type [RCV000509171]|Ehlers-Danlos syndrome, classic type, 1 [RCV002228854]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315560]|not provided [RCV000198331] |
Chr9:134731634 [GRCh38]
Chr9:137623480 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance|not provided |
| NM_000093.5(COL5A1):c.278C>T (p.Ala93Val) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277470]|Ehlers-Danlos syndrome type 7A [RCV000331914]|Ehlers-Danlos syndrome, classic type [RCV001000026]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229447]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315531]|Fibromuscular dysplasia, multifocal [RCV002270003]|Marfan syndrome [RCV003128394]|not provided [RCV001580102]|not specified [RCV000198362] |
Chr9:134699909 [GRCh38]
Chr9:137591755 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.5338C>T (p.Pro1780Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229066]|not provided [RCV000198444] |
Chr9:134835172 [GRCh38]
Chr9:137727018 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.1726C>T (p.Pro576Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229041]|Familial thoracic aortic aneurysm and aortic dissection [RCV002399719]|not provided [RCV000198467] |
Chr9:134753856 [GRCh38]
Chr9:137645702 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.1561A>G (p.Met521Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002228840]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315539]|not provided [RCV000198488] |
Chr9:134750608 [GRCh38]
Chr9:137642454 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.4577C>T (p.Pro1526Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229057]|not provided [RCV000198510] |
Chr9:134822119 [GRCh38]
Chr9:137713965 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.3292G>A (p.Ala1098Thr) |
single nucleotide variant |
Connective tissue disorder [RCV000680506]|Ehlers-Danlos syndrome, classic type [RCV000549431]|Ehlers-Danlos syndrome, classic type, 1 [RCV002057027]|Ehlers-Danlos syndrome, classic type, 1 [RCV003224218]|Familial thoracic aortic aneurysm and aortic dissection [RCV002321783] |
Chr9:134806222 [GRCh38]
Chr9:137698068 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.2281C>T (p.Pro761Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002228859]|Familial thoracic aortic aneurysm and aortic dissection [RCV003380514]|not provided [RCV000198537] |
Chr9:134768458 [GRCh38]
Chr9:137660304 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.3906+14C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002054286]|Ehlers-Danlos syndrome, classic type, 1 [RCV002500599]|Fibromuscular dysplasia, multifocal [RCV002269994]|not specified [RCV000198550] |
Chr9:134814050 [GRCh38]
Chr9:137705896 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.4(COL5A1):c.1663-2A>G |
single nucleotide variant |
not provided [RCV000198601] |
Chr9:134752587 [GRCh38]
Chr9:137644433 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.*14C>T |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000355175]|Ehlers-Danlos syndrome, classic type, 1 [RCV002269973]|Fibromuscular dysplasia, multifocal [RCV002269974]|not specified [RCV000124475] |
Chr9:134842317 [GRCh38]
Chr9:137734163 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.944C>T (p.Thr315Met) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277486]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229070]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315559]|not provided [RCV000198620] |
Chr9:134730255 [GRCh38]
Chr9:137622101 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.4471A>T (p.Ile1491Phe) |
single nucleotide variant |
not provided [RCV000198651] |
Chr9:134820140 [GRCh38]
Chr9:137711986 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|uncertain significance |
| NM_000093.5(COL5A1):c.1840A>C (p.Ser614Arg) |
single nucleotide variant |
not provided [RCV000198660] |
Chr9:134756777 [GRCh38]
Chr9:137648623 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.924+13C>T |
single nucleotide variant |
Connective tissue disorder [RCV000659442]|Ehlers-Danlos syndrome type 7A [RCV000367960]|Ehlers-Danlos syndrome, classic type, 1 [RCV002054288]|not specified [RCV000198670] |
Chr9:134728820 [GRCh38]
Chr9:137620666 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.3236C>T (p.Pro1079Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229046]|not provided [RCV000198757] |
Chr9:134805192 [GRCh38]
Chr9:137697038 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3366+11C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593930]|not specified [RCV000198765] |
Chr9:134806307 [GRCh38]
Chr9:137698153 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|benign|likely benign |
| NM_000093.5(COL5A1):c.5060C>A (p.Ser1687Tyr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229080]|Familial thoracic aortic aneurysm and aortic dissection [RCV002345699]|not provided [RCV000198812] |
Chr9:134825897 [GRCh38]
Chr9:137717743 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.3815C>A (p.Pro1272Gln) |
single nucleotide variant |
not provided [RCV000198842] |
Chr9:134812675 [GRCh38]
Chr9:137704521 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1977C>T (p.Asp659=) |
single nucleotide variant |
COL5A1-related condition [RCV003927815]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229032]|Familial thoracic aortic aneurysm and aortic dissection [RCV002415831]|Fibromuscular dysplasia, multifocal [RCV002269979]|not provided [RCV003430750]|not specified [RCV000198876] |
Chr9:134761966 [GRCh38]
Chr9:137653812 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.4522C>A (p.Pro1508Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002228862]|Ehlers-Danlos syndrome, classic type, 1 [RCV002503762]|not provided [RCV000195410] |
Chr9:134820191 [GRCh38]
Chr9:137712037 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|benign|uncertain significance |
| NM_000093.5(COL5A1):c.2134-11G>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002054285]|Fibromuscular dysplasia, multifocal [RCV002269984]|not provided [RCV003114349]|not specified [RCV000195428] |
Chr9:134766989 [GRCh38]
Chr9:137658835 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000093.5(COL5A1):c.194G>A (p.Arg65Gln) |
single nucleotide variant |
COL5A1-related condition [RCV003927817]|Ehlers-Danlos syndrome, classic type [RCV000456512]|Ehlers-Danlos syndrome, classic type, 1 [RCV001507208]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311041]|Fibromuscular dysplasia, multifocal [RCV002270013]|not provided [RCV001705098]|not specified [RCV000195459] |
Chr9:134690996 [GRCh38]
Chr9:137582842 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.1351G>A (p.Glu451Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002228855]|not provided [RCV000512773] |
Chr9:134732089 [GRCh38]
Chr9:137623935 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.1888C>T (p.Arg630Trp) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277474]|Ehlers-Danlos syndrome, classic type [RCV000559592]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229042]|Familial thoracic aortic aneurysm and aortic dissection [RCV002408861]|not provided [RCV000198923] |
Chr9:134758249 [GRCh38]
Chr9:137650095 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.3815C>T (p.Pro1272Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593933]|not provided [RCV000198944] |
Chr9:134812675 [GRCh38]
Chr9:137704521 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3983C>G (p.Pro1328Arg) |
single nucleotide variant |
Connective tissue disorder [RCV000680508]|Ehlers-Danlos syndrome [RCV002277479]|Ehlers-Danlos syndrome type 7A [RCV000387669]|Ehlers-Danlos syndrome, classic type [RCV001086728]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229052]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315545]|not provided [RCV000755967]|not specified [RCV000198960] |
Chr9:134814873 [GRCh38]
Chr9:137706719 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.4308G>A (p.Pro1436=) |
single nucleotide variant |
COL5A1-related condition [RCV003907715]|Ehlers-Danlos syndrome [RCV002277468]|Ehlers-Danlos syndrome, classic type, 1 [RCV001511777]|Familial thoracic aortic aneurysm and aortic dissection [RCV002327030]|Fibromuscular dysplasia, multifocal [RCV002269996]|not specified [RCV000198985] |
Chr9:134818733 [GRCh38]
Chr9:137710579 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|benign|likely benign |
| NM_000093.5(COL5A1):c.458C>T (p.Pro153Leu) |
single nucleotide variant |
not provided [RCV000198990] |
Chr9:134700089 [GRCh38]
Chr9:137591935 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|uncertain significance |
| NM_000093.5(COL5A1):c.3361G>C (p.Ala1121Pro) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001857714]|Familial thoracic aortic aneurysm and aortic dissection [RCV002321785]|not provided [RCV000199057] |
Chr9:134806291 [GRCh38]
Chr9:137698137 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4754G>A (p.Arg1585Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002228848]|not provided [RCV000199080] |
Chr9:134824655 [GRCh38]
Chr9:137716501 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.4788G>C (p.Gly1596=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV000230918]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315530]|Fibromuscular dysplasia, multifocal [RCV002269999]|not specified [RCV000199117] |
Chr9:134824689 [GRCh38]
Chr9:137716535 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2285C>T (p.Pro762Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277475]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229451]|not provided [RCV000195484] |
Chr9:134768462 [GRCh38]
Chr9:137660308 [GRCh37]
Chr9:9q34.3 |
pathogenic|uncertain significance |
| NM_000093.5(COL5A1):c.2347_2348insT (p.Gln783fs) |
insertion |
not provided [RCV000195500] |
Chr9:134774874..134774875 [GRCh38]
Chr9:137666720..137666721 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.1158C>T (p.Ser386=) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277472]|Ehlers-Danlos syndrome type 7A [RCV000356708]|Ehlers-Danlos syndrome, classic type [RCV001088142]|Ehlers-Danlos syndrome, classic type, 1 [RCV001507114]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311035]|Fibromuscular dysplasia, multifocal [RCV002270007]|not provided [RCV000755244]|not specified [RCV000195584] |
Chr9:134730469 [GRCh38]
Chr9:137622315 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000093.5(COL5A1):c.3868G>A (p.Ala1290Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277478]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229050]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311038]|not provided [RCV000195614] |
Chr9:134813998 [GRCh38]
Chr9:137705844 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.4067C>T (p.Ala1356Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229076]|Familial thoracic aortic aneurysm and aortic dissection [RCV002321786]|not provided [RCV000195625] |
Chr9:134815628 [GRCh38]
Chr9:137707474 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|uncertain significance |
| NM_000093.5(COL5A1):c.1998C>T (p.Asp666=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002269980]|Familial thoracic aortic aneurysm and aortic dissection [RCV002415832]|Fibromuscular dysplasia, multifocal [RCV002269981]|not provided [RCV001812189]|not specified [RCV000195631] |
Chr9:134763701 [GRCh38]
Chr9:137655547 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.4848C>G (p.Asn1616Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229062]|not provided [RCV000195652] |
Chr9:134824749 [GRCh38]
Chr9:137716595 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5371-15C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002057026]|Fibromuscular dysplasia, multifocal [RCV002270001]|not specified [RCV000195685] |
Chr9:134842142 [GRCh38]
Chr9:137733988 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.1465A>G (p.Thr489Ala) |
single nucleotide variant |
not provided [RCV000195705] |
Chr9:134738779 [GRCh38]
Chr9:137630625 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3023C>T (p.Thr1008Met) |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000279787]|Ehlers-Danlos syndrome, classic type [RCV000509160]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229075]|Familial thoracic aortic aneurysm and aortic dissection [RCV002433874]|not provided [RCV000199147] |
Chr9:134802904 [GRCh38]
Chr9:137694750 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000093.5(COL5A1):c.2564C>G (p.Pro855Arg) |
single nucleotide variant |
COL5A1-related condition [RCV003937720]|Ehlers-Danlos syndrome, classic type [RCV001084568]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229043]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315542]|not provided [RCV000199153] |
Chr9:134785068 [GRCh38]
Chr9:137676914 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.5453A>G (p.Asn1818Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002517173]|not provided [RCV000199199] |
Chr9:134842239 [GRCh38]
Chr9:137734085 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.298T>G (p.Phe100Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001853133]|not provided [RCV000199230] |
Chr9:134699929 [GRCh38]
Chr9:137591775 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1293G>T (p.Gly431=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229039]|Familial thoracic aortic aneurysm and aortic dissection [RCV002381663]|Fibromuscular dysplasia, multifocal [RCV002270009]|not provided [RCV002054289]|not specified [RCV000199264] |
Chr9:134731624 [GRCh38]
Chr9:137623470 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|benign|likely benign |
| NM_000093.5(COL5A1):c.2588A>T (p.Glu863Val) |
single nucleotide variant |
COL5A1-related condition [RCV003937721]|Ehlers-Danlos syndrome [RCV002277492]|Ehlers-Danlos syndrome, classic type [RCV000550293]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229073]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311042]|not provided [RCV001721268]|not specified [RCV003401063] |
Chr9:134785092 [GRCh38]
Chr9:137676938 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.4658C>T (p.Pro1553Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229059]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315550]|not provided [RCV000199323]|not specified [RCV003488449] |
Chr9:134823429 [GRCh38]
Chr9:137715275 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.65C>G (p.Pro22Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002228856]|not provided [RCV000199376] |
Chr9:134642252 [GRCh38]
Chr9:137534098 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|benign|uncertain significance |
| NM_000093.5(COL5A1):c.2114C>T (p.Pro705Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000782351]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229450]|Familial thoracic aortic aneurysm and aortic dissection [RCV002415834]|not provided [RCV000199391] |
Chr9:134766479 [GRCh38]
Chr9:137658325 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.4066G>A (p.Ala1356Thr) |
single nucleotide variant |
COL5A1-related condition [RCV003907716]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229053]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311039]|not provided [RCV001705095] |
Chr9:134815627 [GRCh38]
Chr9:137707473 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.4374C>T (p.Asp1458=) |
single nucleotide variant |
COL5A1-related condition [RCV003927816]|Ehlers-Danlos syndrome, classic type [RCV001168080]|Ehlers-Danlos syndrome, classic type, 1 [RCV001513934]|Ehlers-Danlos syndrome, classic type, 1 [RCV002503761]|Familial thoracic aortic aneurysm and aortic dissection [RCV003165442]|Fibromuscular dysplasia, multifocal [RCV002269997]|not specified [RCV000195785] |
Chr9:134818883 [GRCh38]
Chr9:137710729 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.427C>A (p.His143Asn) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001853134]|not provided [RCV000195805] |
Chr9:134700058 [GRCh38]
Chr9:137591904 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1390-18CT[3] |
microsatellite |
Ehlers-Danlos syndrome, classic type, 1 [RCV002054290]|Fibromuscular dysplasia, multifocal [RCV002270011]|not provided [RCV001579643]|not specified [RCV000195808] |
Chr9:134738456..134738457 [GRCh38]
Chr9:137630302..137630303 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000093.5(COL5A1):c.597C>G (p.Ile199Met) |
single nucleotide variant |
COL5A1-related condition [RCV003917783]|Ehlers-Danlos syndrome, classic type [RCV001001681]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229467]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315564]|not provided [RCV001721269] |
Chr9:134701276 [GRCh38]
Chr9:137593122 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.4765G>A (p.Ala1589Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229061]|Familial thoracic aortic aneurysm and aortic dissection [RCV002336524]|not provided [RCV000195865]|not specified [RCV001199934] |
Chr9:134824666 [GRCh38]
Chr9:137716512 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.5154C>T (p.Ala1718=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000867326]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229036]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310763]|Fibromuscular dysplasia, multifocal [RCV002270000]|not specified [RCV000195880] |
Chr9:134834988 [GRCh38]
Chr9:137726834 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000093.5(COL5A1):c.3418G>A (p.Val1140Met) |
single nucleotide variant |
COL5A1-related condition [RCV003937722]|Ehlers-Danlos syndrome [RCV002277493]|Ehlers-Danlos syndrome, classic type, 1 [RCV002228861]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311043]|not provided [RCV001705100]|not specified [RCV003401064] |
Chr9:134809234 [GRCh38]
Chr9:137701080 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.341C>A (p.Ala114Asp) |
single nucleotide variant |
COL5A1-related condition [RCV003967511]|Connective tissue disorder [RCV000680501]|Ehlers-Danlos syndrome [RCV002277483]|Ehlers-Danlos syndrome, classic type [RCV001000088]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229459]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315555]|not provided [RCV001705099]|not specified [RCV000195922] |
Chr9:134699972 [GRCh38]
Chr9:137591818 [GRCh37]
Chr9:9q34.3 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.2750C>T (p.Pro917Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229044]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315543]|not provided [RCV000195939] |
Chr9:134795266 [GRCh38]
Chr9:137687112 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|benign|uncertain significance |
| NM_000093.5(COL5A1):c.5486T>G (p.Phe1829Cys) |
single nucleotide variant |
not provided [RCV000195957] |
Chr9:134842272 [GRCh38]
Chr9:137734118 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.2058G>A (p.Pro686=) |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000263926]|Ehlers-Danlos syndrome, classic type [RCV000459763]|Ehlers-Danlos syndrome, classic type, 1 [RCV001507213]|Ehlers-Danlos syndrome, classic type, 1 [RCV002492884]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310762]|Fibromuscular dysplasia, multifocal [RCV002269983]|not specified [RCV000199410] |
Chr9:134765704 [GRCh38]
Chr9:137657550 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.2162dup (p.Gln722fs) |
duplication |
not provided [RCV000199436] |
Chr9:134767026..134767027 [GRCh38]
Chr9:137658872..137658873 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.193C>T (p.Arg65Trp) |
single nucleotide variant |
Connective tissue disorder [RCV000659435]|Ehlers-Danlos syndrome [RCV002277482]|Ehlers-Danlos syndrome type 7A [RCV000307176]|Ehlers-Danlos syndrome, classic type, 1 [RCV001507207]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310766]|Fibromuscular dysplasia, multifocal [RCV002270012]|not provided [RCV001705097]|not specified [RCV003323441] |
Chr9:134690995 [GRCh38]
Chr9:137582841 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.1077G>A (p.Glu359=) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277471]|Ehlers-Danlos syndrome type 7A [RCV000260767]|Ehlers-Danlos syndrome, classic type [RCV000459091]|Ehlers-Danlos syndrome, classic type, 1 [RCV001507124]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315536]|Fibromuscular dysplasia, multifocal [RCV002270006]|not specified [RCV000199495] |
Chr9:134730388 [GRCh38]
Chr9:137622234 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.4814C>T (p.Ala1605Val) |
single nucleotide variant |
COL5A1-related condition [RCV003947619]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229456]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311040]|not provided [RCV000199553] |
Chr9:134824715 [GRCh38]
Chr9:137716561 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.4561_4569del (p.Thr1521_Pro1523del) |
deletion |
not provided [RCV000199563] |
Chr9:134822103..134822111 [GRCh38]
Chr9:137713949..137713957 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1528G>A (p.Asp510Asn) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001853131]|Familial thoracic aortic aneurysm and aortic dissection [RCV003380513]|not provided [RCV000199581] |
Chr9:134750575 [GRCh38]
Chr9:137642421 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|benign|uncertain significance |
| NM_000093.5(COL5A1):c.5370+11C>T |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000351620]|Ehlers-Danlos syndrome, classic type [RCV001168154]|Ehlers-Danlos syndrome, classic type, 1 [RCV002057025]|not provided [RCV001815247]|not specified [RCV000199658] |
Chr9:134835215 [GRCh38]
Chr9:137727061 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.4697C>T (p.Pro1566Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001857715]|not provided [RCV000196005] |
Chr9:134823468 [GRCh38]
Chr9:137715314 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.1350C>T (p.Gly450=) |
single nucleotide variant |
COL5A1-related condition [RCV003967508]|Connective tissue disorder [RCV000680504]|Ehlers-Danlos syndrome type 7A [RCV000323070]|Ehlers-Danlos syndrome, classic type [RCV000227942]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229040]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311037]|not specified [RCV000196040] |
Chr9:134732088 [GRCh38]
Chr9:137623934 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic|benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.5026G>C (p.Gly1676Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593932]|not provided [RCV000726897] |
Chr9:134825863 [GRCh38]
Chr9:137717709 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1637C>T (p.Ala546Val) |
single nucleotide variant |
COL5A1-related condition [RCV003401062]|Ehlers-Danlos syndrome type 7A [RCV000408358]|Ehlers-Danlos syndrome, classic type [RCV000634643]|Ehlers-Danlos syndrome, classic type, 1 [RCV001537856]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315540]|not provided [RCV000196128] |
Chr9:134750857 [GRCh38]
Chr9:137642703 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic|likely benign|uncertain significance|not provided |
| NM_000093.5(COL5A1):c.1189G>A (p.Ala397Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277487]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229460]|Familial thoracic aortic aneurysm and aortic dissection [RCV002336526]|not provided [RCV000196134] |
Chr9:134731520 [GRCh38]
Chr9:137623366 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.754C>T (p.Pro252Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002228853]|Ehlers-Danlos syndrome, classic type, 2 [RCV001199249]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315558]|not provided [RCV000199670] |
Chr9:134727365 [GRCh38]
Chr9:137619211 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.309AAC[1] (p.Thr105del) |
microsatellite |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758715]|not provided [RCV000199699] |
Chr9:134699940..134699942 [GRCh38]
Chr9:137591786..137591788 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2989G>A (p.Gly997Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593931]|not provided [RCV000199703] |
Chr9:134801990 [GRCh38]
Chr9:137693836 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser) |
single nucleotide variant |
Connective tissue disorder [RCV000659434]|Ehlers-Danlos syndrome [RCV002277473]|Ehlers-Danlos syndrome type 7A [RCV000360850]|Ehlers-Danlos syndrome, classic type [RCV000232945]|Ehlers-Danlos syndrome, classic type, 1 [RCV002228839]|Ehlers-Danlos syndrome, classic type, 1 [RCV002500600]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315537]|Fibromuscular dysplasia, multifocal [RCV002270010]|not provided [RCV001711505]|not specified [RCV000199718] |
Chr9:134642248 [GRCh38]
Chr9:137534094 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000093.5(COL5A1):c.383T>C (p.Ile128Thr) |
single nucleotide variant |
not provided [RCV000199729] |
Chr9:134700014 [GRCh38]
Chr9:137591860 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4392+4A>C |
single nucleotide variant |
not provided [RCV000199733] |
Chr9:134818905 [GRCh38]
Chr9:137710751 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2310T>A (p.Pro770=) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277465]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229444]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315529]|Fibromuscular dysplasia, multifocal [RCV002269986]|not specified [RCV000199859] |
Chr9:134772813 [GRCh38]
Chr9:137664659 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000093.5(COL5A1):c.5182A>G (p.Met1728Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229065]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315553]|not provided [RCV001705096] |
Chr9:134835016 [GRCh38]
Chr9:137726862 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.279G>A (p.Ala93=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002228836]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315532]|Fibromuscular dysplasia, multifocal [RCV002270004]|not provided [RCV000585585]|not specified [RCV000199886] |
Chr9:134699910 [GRCh38]
Chr9:137591756 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.4762G>A (p.Asp1588Asn) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229077]|not provided [RCV000199900] |
Chr9:134824663 [GRCh38]
Chr9:137716509 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4230G>C (p.Lys1410Asn) |
single nucleotide variant |
not provided [RCV000196211] |
Chr9:134817831 [GRCh38]
Chr9:137709677 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.5329G>A (p.Asp1777Asn) |
single nucleotide variant |
not provided [RCV000196237] |
Chr9:134835163 [GRCh38]
Chr9:137727009 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2386-7C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV000471306]|Fibromuscular dysplasia, multifocal [RCV002269987]|not specified [RCV000196246] |
Chr9:134780095 [GRCh38]
Chr9:137671941 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1720-11T>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002054291]|not provided [RCV000196263] |
Chr9:134753839 [GRCh38]
Chr9:137645685 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic|likely benign |
| NM_000093.5(COL5A1):c.1535T>C (p.Leu512Pro) |
single nucleotide variant |
not provided [RCV000196287] |
Chr9:134750582 [GRCh38]
Chr9:137642428 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2096C>T (p.Thr699Met) |
single nucleotide variant |
COL5A1-related condition [RCV003927818]|Ehlers-Danlos syndrome [RCV002277491]|Ehlers-Danlos syndrome type 7A [RCV000302769]|Ehlers-Danlos syndrome, classic type [RCV000468094]|Ehlers-Danlos syndrome, classic type, 1 [RCV002228858]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315561]|not provided [RCV001721267]|not specified [RCV000196358] |
Chr9:134766461 [GRCh38]
Chr9:137658307 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000093.5(COL5A1):c.3258G>A (p.Ala1086=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229048]|Familial thoracic aortic aneurysm and aortic dissection [RCV003165444]|not provided [RCV000196395] |
Chr9:134805214 [GRCh38]
Chr9:137697060 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1574G>A (p.Arg525Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002228857]|Familial thoracic aortic aneurysm and aortic dissection [RCV002399720]|not provided [RCV000196460] |
Chr9:134750794 [GRCh38]
Chr9:137642640 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.4831A>C (p.Ile1611Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002288797]|not provided [RCV000199952] |
Chr9:134824732 [GRCh38]
Chr9:137716578 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.4282C>T (p.Gln1428Ter) |
single nucleotide variant |
not provided [RCV000199962] |
Chr9:134818707 [GRCh38]
Chr9:137710553 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.3069dup (p.Gly1024fs) |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229462]|Familial thoracic aortic aneurysm and aortic dissection [RCV002444788]|not provided [RCV000199987] |
Chr9:134802944..134802945 [GRCh38]
Chr9:137694790..137694791 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic |
| NM_000093.5(COL5A1):c.2485-11C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002057022]|Fibromuscular dysplasia, multifocal [RCV002269988]|not specified [RCV000200002] |
Chr9:134784978 [GRCh38]
Chr9:137676824 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000093.5(COL5A1):c.4934G>A (p.Cys1645Tyr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002515350]|Familial thoracic aortic aneurysm and aortic dissection [RCV003165445]|not provided [RCV000200017] |
Chr9:134824835 [GRCh38]
Chr9:137716681 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.4481C>T (p.Pro1494Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003765243]|not provided [RCV000200035] |
Chr9:134820150 [GRCh38]
Chr9:137711996 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.1595C>T (p.Ala532Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002228841]|Ehlers-Danlos syndrome, classic type, 1 [RCV003224216]|Familial thoracic aortic aneurysm and aortic dissection [RCV002399718]|not provided [RCV000200041]|not specified [RCV003323438] |
Chr9:134750815 [GRCh38]
Chr9:137642661 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.4162C>T (p.Pro1388Ser) |
single nucleotide variant |
COL5A1-related condition [RCV003967510]|Ehlers-Danlos syndrome, classic type, 1 [RCV002228847]|Ehlers-Danlos syndrome, classic type, 1 [RCV002492886]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315546]|not provided [RCV000200105] |
Chr9:134817065 [GRCh38]
Chr9:137708911 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.126C>T (p.Leu42=) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277469]|Ehlers-Danlos syndrome type 7A [RCV000405199]|Ehlers-Danlos syndrome, classic type [RCV000231383]|Ehlers-Danlos syndrome, classic type, 1 [RCV001507122]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310764]|not provided [RCV001701557]|not specified [RCV000200132] |
Chr9:134690928 [GRCh38]
Chr9:137582774 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.1719+7C>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240874] |
Chr9:134752652 [GRCh38]
Chr9:137644498 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1229G>A (p.Arg410Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758725]|not specified [RCV000203612] |
Chr9:134731560 [GRCh38]
Chr9:137623406 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.1089C>G (p.Asn363Lys) |
single nucleotide variant |
not provided [RCV002305463] |
Chr9:134730400 [GRCh38]
Chr9:137622246 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.431_432delinsAT (p.Thr144Asn) |
indel |
Ehlers-Danlos syndrome, classic type, 1 [RCV002228934]|Familial thoracic aortic aneurysm and aortic dissection [RCV002327058]|not provided [RCV001722116] |
Chr9:134700062..134700063 [GRCh38]
Chr9:137591908..137591909 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.1163A>G (p.Asn388Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV001167328]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229150]|Familial thoracic aortic aneurysm and aortic dissection [RCV002321803]|not provided [RCV000203616] |
Chr9:134730474 [GRCh38]
Chr9:137622320 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.409G>A (p.Val137Ile) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229510]|Familial thoracic aortic aneurysm and aortic dissection [RCV002321802]|not specified [RCV000203617] |
Chr9:134700040 [GRCh38]
Chr9:137591886 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.4717A>G (p.Ile1573Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229183]|Ehlers-Danlos syndrome, classic type, 1 [RCV002500661]|Familial thoracic aortic aneurysm and aortic dissection [RCV002336571]|not provided [RCV000482273] |
Chr9:134824618 [GRCh38]
Chr9:137716464 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.4909C>T (p.Arg1637Cys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000208258]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229534]|not provided [RCV001589097] |
Chr9:134824810 [GRCh38]
Chr9:137716656 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.4654G>A (p.Gly1552Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231303] |
Chr9:134823425 [GRCh38]
Chr9:137715271 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5162A>G (p.Asn1721Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231694] |
Chr9:134834996 [GRCh38]
Chr9:137726842 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.1401C>T (p.Ile467=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231041]|Ehlers-Danlos syndrome, classic type, 1 [RCV002490973]|Familial thoracic aortic aneurysm and aortic dissection [RCV002395329] |
Chr9:134738485 [GRCh38]
Chr9:137630331 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4905C>T (p.Pro1635=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231693]|Familial thoracic aortic aneurysm and aortic dissection [RCV002341286]|not provided [RCV000526238]|not specified [RCV003323593] |
Chr9:134824806 [GRCh38]
Chr9:137716652 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5217C>A (p.His1739Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003765340]|Marfan syndrome [RCV000208424]|not provided [RCV003148680] |
Chr9:134835051 [GRCh38]
Chr9:137726897 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.4126T>C (p.Ser1376Pro) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000208009] |
Chr9:134817029 [GRCh38]
Chr9:137708875 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.212C>T (p.Pro71Leu) |
single nucleotide variant |
COL5A1-related condition [RCV003411692]|Ehlers-Danlos syndrome, classic type, 1 [RCV002233748]|not provided [RCV000755969] |
Chr9:134691014 [GRCh38]
Chr9:137582860 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.3911C>T (p.Pro1304Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231686] |
Chr9:134814801 [GRCh38]
Chr9:137706647 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.423G>A (p.Glu141=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001907549] |
Chr9:134700054 [GRCh38]
Chr9:137591900 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4050C>T (p.Pro1350=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229646]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315678] |
Chr9:134815611 [GRCh38]
Chr9:137707457 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2386-6G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000228290]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229643]|not specified [RCV000254445] |
Chr9:134780096 [GRCh38]
Chr9:137671942 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1540G>A (p.Gly514Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229642]|Fibromuscular dysplasia, multifocal [RCV001420510]|not provided [RCV000999270] |
Chr9:134750587 [GRCh38]
Chr9:137642433 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000093.5(COL5A1):c.2676C>A (p.Gly892=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229644]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315677]|not provided [RCV000999272] |
Chr9:134789184 [GRCh38]
Chr9:137681030 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.110-10G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229794] |
Chr9:134690902 [GRCh38]
Chr9:137582748 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4200C>T (p.Pro1400=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229647]|Familial thoracic aortic aneurysm and aortic dissection [RCV003165592] |
Chr9:134817801 [GRCh38]
Chr9:137709647 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1476C>T (p.Val492=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229641]|Familial thoracic aortic aneurysm and aortic dissection [RCV002390595]|not provided [RCV001537848]|not specified [RCV000245959] |
Chr9:134738790 [GRCh38]
Chr9:137630636 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4943A>G (p.Asp1648Gly) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000233786]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229649]|Familial thoracic aortic aneurysm and aortic dissection [RCV002338702]|not provided [RCV001578244] |
Chr9:134824844 [GRCh38]
Chr9:137716690 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance|not provided |
| NM_000093.5(COL5A1):c.4467G>T (p.Gly1489=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229648] |
Chr9:134820136 [GRCh38]
Chr9:137711982 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3732C>T (p.Asp1244=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229645]|Familial thoracic aortic aneurysm and aortic dissection [RCV002347856]|not provided [RCV001582761] |
Chr9:134812490 [GRCh38]
Chr9:137704336 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3259-8C>T |
single nucleotide variant |
COL5A1-related condition [RCV003955296]|Connective tissue disorder [RCV000659451]|Ehlers-Danlos syndrome, classic type, 1 [RCV000226343]|Fibromuscular dysplasia, multifocal [RCV002270028]|not provided [RCV001722205]|not specified [RCV003987463] |
Chr9:134806181 [GRCh38]
Chr9:137698027 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.528T>C (p.Asn176=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229650]|Familial thoracic aortic aneurysm and aortic dissection [RCV002347857]|not specified [RCV000612646] |
Chr9:134701207 [GRCh38]
Chr9:137593053 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.502A>G (p.Ile168Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229795]|See cases [RCV002252059] |
Chr9:134701181 [GRCh38]
Chr9:137593027 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.761C>T (p.Ser254Leu) |
single nucleotide variant |
COL5A1-related condition [RCV003947739]|Ehlers-Danlos syndrome type 7A [RCV000339844]|Ehlers-Danlos syndrome, classic type [RCV000226638]|Ehlers-Danlos syndrome, classic type, 1 [RCV001507237]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310820]|Fibromuscular dysplasia, multifocal [RCV002270029]|not specified [RCV000428949] |
Chr9:134727372 [GRCh38]
Chr9:137619218 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.558G>A (p.Lys186=) |
single nucleotide variant |
not provided [RCV000757123] |
Chr9:134701237 [GRCh38]
Chr9:137593083 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.680T>C (p.Val227Ala) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233749]|Familial thoracic aortic aneurysm and aortic dissection [RCV002360865]|not provided [RCV000755972]|not specified [RCV003330937] |
Chr9:134727291 [GRCh38]
Chr9:137619137 [GRCh37]
Chr9:9q34.3 |
benign|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_000093.5(COL5A1):c.4507C>T (p.Arg1503Cys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231301] |
Chr9:134820176 [GRCh38]
Chr9:137712022 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NC_000009.11:g.(?_137721802)_(137734169_?)dup |
duplication |
Ehlers-Danlos syndrome, classic type [RCV000560385] |
Chr9:134829956..134842323 [GRCh38]
Chr9:137721802..137734169 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1390-4C>T |
single nucleotide variant |
not specified [RCV000599774] |
Chr9:134738470 [GRCh38]
Chr9:137630316 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4122+1_4122+42dup |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242622] |
Chr9:134815987..134815988 [GRCh38]
Chr9:137707833..137707834 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1308G>A (p.Ala436=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231285]|Familial thoracic aortic aneurysm and aortic dissection [RCV002384076]|not provided [RCV000549695] |
Chr9:134731639 [GRCh38]
Chr9:137623485 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3921A>G (p.Glu1307=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231687] |
Chr9:134814811 [GRCh38]
Chr9:137706657 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.233C>T (p.Thr78Ile) |
single nucleotide variant |
Connective tissue disorder [RCV000659436] |
Chr9:134691035 [GRCh38]
Chr9:137582881 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4447G>T (p.Gly1483Cys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000531144] |
Chr9:134820116 [GRCh38]
Chr9:137711962 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5012G>A (p.Cys1671Tyr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231307] |
Chr9:134825849 [GRCh38]
Chr9:137717695 [GRCh37]
Chr9:9q34.3 |
pathogenic|uncertain significance |
| NM_000093.5(COL5A1):c.4607C>T (p.Pro1536Leu) |
single nucleotide variant |
Aortic root aneurysm [RCV001263364]|Ehlers-Danlos syndrome, classic type, 1 [RCV002231689]|Familial thoracic aortic aneurysm and aortic dissection [RCV003159774]|not provided [RCV001755816] |
Chr9:134822149 [GRCh38]
Chr9:137713995 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.3999T>C (p.Gly1333=) |
single nucleotide variant |
COL5A1-related condition [RCV003942759]|Ehlers-Danlos syndrome, classic type, 1 [RCV002231688]|Familial thoracic aortic aneurysm and aortic dissection [RCV002323934] |
Chr9:134814889 [GRCh38]
Chr9:137706735 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.684G>A (p.Ser228=) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002279341]|Ehlers-Danlos syndrome, classic type, 1 [RCV002231312]|Familial thoracic aortic aneurysm and aortic dissection [RCV002367798]|not provided [RCV001653891]|not specified [RCV003488666] |
Chr9:134727295 [GRCh38]
Chr9:137619141 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.5299del (p.Leu1767fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231308] |
Chr9:134835132 [GRCh38]
Chr9:137726978 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.921C>T (p.Pro307=) |
single nucleotide variant |
COL5A1-related condition [RCV003935411]|Ehlers-Danlos syndrome, classic type, 1 [RCV002231697]|not provided [RCV000841574] |
Chr9:134728804 [GRCh38]
Chr9:137620650 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5067+7A>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002528319] |
Chr9:134825911 [GRCh38]
Chr9:137717757 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.256C>T (p.Pro86Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003153694] |
Chr9:134691058 [GRCh38]
Chr9:137582904 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.791C>T (p.Thr264Met) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002232756]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314227]|not provided [RCV003884667] |
Chr9:134728674 [GRCh38]
Chr9:137620520 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.5036C>A (p.Thr1679Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001868119]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314259] |
Chr9:134825873 [GRCh38]
Chr9:137717719 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.841del (p.Glu281fs) |
deletion |
Connective tissue disorder [RCV000659441] |
Chr9:134728724 [GRCh38]
Chr9:137620570 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.2802C>T (p.Gly934=) |
single nucleotide variant |
Connective tissue disorder [RCV000659448] |
Chr9:134796376 [GRCh38]
Chr9:137688222 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2883A>G (p.Gly961=) |
single nucleotide variant |
Connective tissue disorder [RCV000659449]|Ehlers-Danlos syndrome, classic type, 1 [RCV002066959] |
Chr9:134796886 [GRCh38]
Chr9:137688732 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4515C>T (p.Leu1505=) |
single nucleotide variant |
Connective tissue disorder [RCV000659462] |
Chr9:134820184 [GRCh38]
Chr9:137712030 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5371-17G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002065312]|Fibromuscular dysplasia, multifocal [RCV002270791]|not specified [RCV000604837] |
Chr9:134842140 [GRCh38]
Chr9:137733986 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.1720-47C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002270086]|Fibromuscular dysplasia, multifocal [RCV002270087]|not provided [RCV001682951]|not specified [RCV000243549] |
Chr9:134753803 [GRCh38]
Chr9:137645649 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3600G>A (p.Pro1200=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002059034]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311085] |
Chr9:134811509 [GRCh38]
Chr9:137703355 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3528+46G>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002270118]|Fibromuscular dysplasia, multifocal [RCV002270119]|not provided [RCV001682952]|not specified [RCV000248414] |
Chr9:134810354 [GRCh38]
Chr9:137702200 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1936-35C>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002270094]|Fibromuscular dysplasia, multifocal [RCV002270095]|not provided [RCV001594883]|not specified [RCV000253419] |
Chr9:134761890 [GRCh38]
Chr9:137653736 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4290C>T (p.Ala1430=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229940]|Familial thoracic aortic aneurysm and aortic dissection [RCV003165685]|not specified [RCV000243668] |
Chr9:134818715 [GRCh38]
Chr9:137710561 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2034+24C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002270096]|Fibromuscular dysplasia, multifocal [RCV002270097]|not provided [RCV000832393]|not specified [RCV000243788] |
Chr9:134763761 [GRCh38]
Chr9:137655607 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.5001C>T (p.Phe1667=) |
single nucleotide variant |
not specified [RCV000243842] |
Chr9:134825838 [GRCh38]
Chr9:137717684 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4608+31T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002270126]|Fibromuscular dysplasia, multifocal [RCV002270127]|not provided [RCV001651101]|not specified [RCV000246419] |
Chr9:134822181 [GRCh38]
Chr9:137714027 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3428C>T (p.Pro1143Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229715]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310969]|not provided [RCV000585054] |
Chr9:134809244 [GRCh38]
Chr9:137701090 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.1936-21G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV001000218]|Ehlers-Danlos syndrome, classic type, 1 [RCV002270092]|Fibromuscular dysplasia, multifocal [RCV002270093]|not specified [RCV000248846] |
Chr9:134761904 [GRCh38]
Chr9:137653750 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1569+3G>A |
single nucleotide variant |
not specified [RCV000251252] |
Chr9:134750619 [GRCh38]
Chr9:137642465 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4176+19A>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002518564]|not specified [RCV000251260] |
Chr9:134817098 [GRCh38]
Chr9:137708944 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4554+3G>A |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002310922] |
Chr9:134820226 [GRCh38]
Chr9:137712072 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3745-37G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002270120]|Fibromuscular dysplasia, multifocal [RCV002270121]|not provided [RCV001658145]|not specified [RCV000253673] |
Chr9:134812568 [GRCh38]
Chr9:137704414 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4954+16G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002057308]|not specified [RCV000241575] |
Chr9:134824871 [GRCh38]
Chr9:137716717 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2592+16C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002057304]|Fibromuscular dysplasia, multifocal [RCV002270102]|not specified [RCV000241669] |
Chr9:134785112 [GRCh38]
Chr9:137676958 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.1720-48T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002270088]|Fibromuscular dysplasia, multifocal [RCV002270089]|not provided [RCV000830148]|not specified [RCV000246505] |
Chr9:134753802 [GRCh38]
Chr9:137645648 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4176+48A>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002270122]|Fibromuscular dysplasia, multifocal [RCV002270123]|not provided [RCV001538724]|not specified [RCV000246539] |
Chr9:134817127 [GRCh38]
Chr9:137708973 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2238C>T (p.Pro746=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229823]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310961]|not provided [RCV001812759]|not specified [RCV000607817] |
Chr9:134768415 [GRCh38]
Chr9:137660261 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3753G>A (p.Pro1251=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758741]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311098] |
Chr9:134812613 [GRCh38]
Chr9:137704459 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.1827+45G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002270090]|Fibromuscular dysplasia, multifocal [RCV002270091]|not provided [RCV001651098]|not specified [RCV000251427] |
Chr9:134754371 [GRCh38]
Chr9:137646217 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3495G>A (p.Gly1165=) |
single nucleotide variant |
not specified [RCV000251452] |
Chr9:134810275 [GRCh38]
Chr9:137702121 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1440C>T (p.Pro480=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000634673]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229939]|Ehlers-Danlos syndrome, classic type, 1 [RCV002494694]|Familial thoracic aortic aneurysm and aortic dissection [RCV002392756]|Fibromuscular dysplasia, multifocal [RCV002270085]|not provided [RCV001532655]|not specified [RCV000253930] |
Chr9:134738754 [GRCh38]
Chr9:137630600 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000093.5(COL5A1):c.5437G>A (p.Val1813Met) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231310]|not provided [RCV002281106]|not specified [RCV003323594] |
Chr9:134842223 [GRCh38]
Chr9:137734069 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.2431-25G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002270100]|Fibromuscular dysplasia, multifocal [RCV002270101]|not provided [RCV000590631]|not specified [RCV000241759] |
Chr9:134782642 [GRCh38]
Chr9:137674488 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3303C>T (p.Ile1101=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229828]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311212]|Fibromuscular dysplasia, multifocal [RCV002270192]|not provided [RCV002512073]|not specified [RCV000606050] |
Chr9:134806233 [GRCh38]
Chr9:137698079 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.5136+40A>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002270131]|Fibromuscular dysplasia, multifocal [RCV002270132]|not provided [RCV001658150]|not specified [RCV000244302] |
Chr9:134830084 [GRCh38]
Chr9:137721930 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.295G>T (p.Asp99Tyr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229819]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310937] |
Chr9:134699926 [GRCh38]
Chr9:137591772 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.4954+17dup |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV002518565]|not specified [RCV000246760] |
Chr9:134824865..134824866 [GRCh38]
Chr9:137716711..137716712 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.1720-34C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001658139]|Fibromuscular dysplasia, multifocal [RCV001658140]|not provided [RCV000830149]|not specified [RCV000251544] |
Chr9:134753816 [GRCh38]
Chr9:137645662 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3014C>T (p.Thr1005Met) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV001168011]|Ehlers-Danlos syndrome, classic type, 1 [RCV001859457]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310982]|not provided [RCV001589303] |
Chr9:134802895 [GRCh38]
Chr9:137694741 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.3649C>T (p.Pro1217Ser) |
single nucleotide variant |
COL5A1-related condition [RCV003897590]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229721]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311163]|not provided [RCV003126657] |
Chr9:134811558 [GRCh38]
Chr9:137703404 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.4447-45G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002270124]|Fibromuscular dysplasia, multifocal [RCV002270125]|not provided [RCV000832874]|not specified [RCV000254088] |
Chr9:134820071 [GRCh38]
Chr9:137711917 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3475-36A>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002270112]|Fibromuscular dysplasia, multifocal [RCV002270113]|not provided [RCV001711520]|not specified [RCV000244415] |
Chr9:134810219 [GRCh38]
Chr9:137702065 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4955-48G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002270128]|Fibromuscular dysplasia, multifocal [RCV002270129]|not provided [RCV001575926]|not specified [RCV000246886] |
Chr9:134825744 [GRCh38]
Chr9:137717590 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.2991C>T (p.Gly997=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229827]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311201]|not specified [RCV000608179] |
Chr9:134801992 [GRCh38]
Chr9:137693838 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.4955-28T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001658148]|Fibromuscular dysplasia, multifocal [RCV001658149]|not provided [RCV000830157]|not specified [RCV000242081] |
Chr9:134825764 [GRCh38]
Chr9:137717610 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3006+17C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002055023]|Fibromuscular dysplasia, multifocal [RCV002270111]|not specified [RCV000242134] |
Chr9:134802024 [GRCh38]
Chr9:137693870 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.2593-15T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002057305]|Fibromuscular dysplasia, multifocal [RCV002270103]|not specified [RCV000247056] |
Chr9:134785980 [GRCh38]
Chr9:137677826 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000093.5(COL5A1):c.2700+46C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002270108]|Fibromuscular dysplasia, multifocal [RCV002270109]|not provided [RCV001541718]|not specified [RCV000247110] |
Chr9:134789254 [GRCh38]
Chr9:137681100 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1140C>T (p.Thr380=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229714]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310913] |
Chr9:134730451 [GRCh38]
Chr9:137622297 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1333-3dup |
duplication |
COL5A1-related condition [RCV003892123]|Ehlers-Danlos syndrome, classic type, 1 [RCV001516479]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311134]|Fibromuscular dysplasia, multifocal [RCV002270177] |
Chr9:134732063..134732064 [GRCh38]
Chr9:137623909..137623910 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.3475-42G>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002270114]|Fibromuscular dysplasia, multifocal [RCV002270115]|not provided [RCV001636738]|not specified [RCV000249530] |
Chr9:134810213 [GRCh38]
Chr9:137702059 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3096T>A (p.Ala1032=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002518709]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310986] |
Chr9:134802977 [GRCh38]
Chr9:137694823 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.2593-45G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002270104]|Fibromuscular dysplasia, multifocal [RCV002270105]|not provided [RCV000832661]|not specified [RCV000252019] |
Chr9:134785950 [GRCh38]
Chr9:137677796 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.5206G>A (p.Ala1736Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593944]|not provided [RCV003144174]|not specified [RCV000254377] |
Chr9:134835040 [GRCh38]
Chr9:137726886 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.2646+27C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002270106]|Fibromuscular dysplasia, multifocal [RCV002270107]|not provided [RCV001651099]|not specified [RCV000242329] |
Chr9:134786075 [GRCh38]
Chr9:137677921 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1754C>T (p.Pro585Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229716]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310974]|not provided [RCV001576207] |
Chr9:134753884 [GRCh38]
Chr9:137645730 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.4968C>T (p.Val1656=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000552824]|Ehlers-Danlos syndrome, classic type, 1 [RCV002230197]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313970]|Fibromuscular dysplasia, multifocal [RCV002270130]|not specified [RCV000252036] |
Chr9:134825805 [GRCh38]
Chr9:137717651 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000093.5(COL5A1):c.2088C>T (p.Pro696=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229723]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311213]|not specified [RCV000606777] |
Chr9:134765734 [GRCh38]
Chr9:137657580 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.4782C>T (p.Asp1594=) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002278248]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229722]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311181]|not provided [RCV001580114] |
Chr9:134824683 [GRCh38]
Chr9:137716529 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.787-42C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001658151]|Fibromuscular dysplasia, multifocal [RCV001658152]|not provided [RCV000830143]|not specified [RCV000247327] |
Chr9:134728628 [GRCh38]
Chr9:137620474 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3007-19A>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002518563]|not specified [RCV000247354] |
Chr9:134802869 [GRCh38]
Chr9:137694715 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1053G>A (p.Pro351=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229938]|Familial thoracic aortic aneurysm and aortic dissection [RCV003380530]|not provided [RCV001636737]|not specified [RCV000252253] |
Chr9:134730364 [GRCh38]
Chr9:137622210 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2701-22C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001658141]|Fibromuscular dysplasia, multifocal [RCV001658142]|not provided [RCV000830175]|not specified [RCV000252264] |
Chr9:134795060 [GRCh38]
Chr9:137686906 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.5280C>T (p.Tyr1760=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229820]|Ehlers-Danlos syndrome, classic type, 1 [RCV002500948]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310945]|not provided [RCV000827246] |
Chr9:134835114 [GRCh38]
Chr9:137726960 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3987C>T (p.Pro1329=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229821]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310950]|not provided [RCV000525688] |
Chr9:134814877 [GRCh38]
Chr9:137706723 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.925-43G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002270133]|Fibromuscular dysplasia, multifocal [RCV002270134]|not provided [RCV000830145]|not specified [RCV000242645] |
Chr9:134730193 [GRCh38]
Chr9:137622039 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2493C>T (p.Ile831=) |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000327066]|Ehlers-Danlos syndrome, classic type [RCV001165823]|Ehlers-Danlos syndrome, classic type, 1 [RCV001521595]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313969]|not provided [RCV000866278]|not specified [RCV000245129] |
Chr9:134784997 [GRCh38]
Chr9:137676843 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.825C>T (p.Tyr275=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229824]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311102]|not provided [RCV001589305] |
Chr9:134728708 [GRCh38]
Chr9:137620554 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2845-37A>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001658143]|Fibromuscular dysplasia, multifocal [RCV001658144]|not provided [RCV000830183]|not specified [RCV000245169] |
Chr9:134796811 [GRCh38]
Chr9:137688657 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1432-24C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002270083]|Fibromuscular dysplasia, multifocal [RCV002270084]|not provided [RCV000830147]|not specified [RCV000245231] |
Chr9:134738722 [GRCh38]
Chr9:137630568 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3205-18C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002057307]|not specified [RCV000252623] |
Chr9:134805143 [GRCh38]
Chr9:137696989 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4176+35A>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001658146]|Fibromuscular dysplasia, multifocal [RCV001658147]|not provided [RCV001651100]|not specified [RCV000242981] |
Chr9:134817114 [GRCh38]
Chr9:137708960 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1674G>A (p.Arg558=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230196]|not specified [RCV000247820] |
Chr9:134752600 [GRCh38]
Chr9:137644446 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.925-49A>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002270135]|Fibromuscular dysplasia, multifocal [RCV002270136]|not provided [RCV000830144]|not specified [RCV000247841] |
Chr9:134730187 [GRCh38]
Chr9:137622033 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.766G>A (p.Asp256Asn) |
single nucleotide variant |
not provided [RCV003144175]|not specified [RCV000250344] |
Chr9:134727377 [GRCh38]
Chr9:137619223 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.4158G>A (p.Ser1386=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003153695]|Familial thoracic aortic aneurysm and aortic dissection [RCV003159773]|not provided [RCV003424098] |
Chr9:134817061 [GRCh38]
Chr9:137708907 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3087G>A (p.Pro1029=) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002278241]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229718]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310978]|not provided [RCV001697733] |
Chr9:134802968 [GRCh38]
Chr9:137694814 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1024C>T (p.Pro342Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002310970] |
Chr9:134730335 [GRCh38]
Chr9:137622181 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2997C>T (p.Val999=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV000557896]|Fibromuscular dysplasia, multifocal [RCV002270110]|not specified [RCV000250386] |
Chr9:134801998 [GRCh38]
Chr9:137693844 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.1332+46T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000999942]|Ehlers-Danlos syndrome, classic type, 1 [RCV002270081]|Fibromuscular dysplasia, multifocal [RCV002270082]|not provided [RCV000830146]|not specified [RCV000252938] |
Chr9:134731709 [GRCh38]
Chr9:137623555 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2845-17C>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002057306]|not provided [RCV001705329]|not specified [RCV000252959] |
Chr9:134796831 [GRCh38]
Chr9:137688677 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4241G>C (p.Gly1414Ala) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002060281]|not provided [RCV000520717] |
Chr9:134818666 [GRCh38]
Chr9:137710512 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.3528+43G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002270116]|Fibromuscular dysplasia, multifocal [RCV002270117]|not provided [RCV001711521]|not specified [RCV000243245] |
Chr9:134810351 [GRCh38]
Chr9:137702197 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2232+36C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002270098]|Fibromuscular dysplasia, multifocal [RCV002270099]|not provided [RCV000832395]|not specified [RCV000245736] |
Chr9:134767390 [GRCh38]
Chr9:137659236 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.5307C>T (p.Ser1769=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758740]|not specified [RCV000248119] |
Chr9:134835141 [GRCh38]
Chr9:137726987 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.2845-15T>C |
single nucleotide variant |
not specified [RCV000248191] |
Chr9:134796833 [GRCh38]
Chr9:137688679 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.110-34C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002270077]|Fibromuscular dysplasia, multifocal [RCV002270078]|not provided [RCV001610551]|not specified [RCV000243445] |
Chr9:134690878 [GRCh38]
Chr9:137582724 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.5223C>T (p.Asn1741=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229822]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310954] |
Chr9:134835057 [GRCh38]
Chr9:137726903 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1332+25C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002270079]|Fibromuscular dysplasia, multifocal [RCV002270080]|not provided [RCV001618362]|not specified [RCV000248368] |
Chr9:134731688 [GRCh38]
Chr9:137623534 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3852+47A>T |
single nucleotide variant |
not specified [RCV000250692] |
Chr9:134812759 [GRCh38]
Chr9:137704605 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3698C>T (p.Pro1233Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001859460]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311110]|not provided [RCV002266941] |
Chr9:134812456 [GRCh38]
Chr9:137704302 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1430C>T (p.Ala477Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001854987]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311131] |
Chr9:134738514 [GRCh38]
Chr9:137630360 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2331+15C>T |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000267631]|Ehlers-Danlos syndrome, classic type [RCV001165822]|Ehlers-Danlos syndrome, classic type, 1 [RCV002058781]|not specified [RCV000443941] |
Chr9:134772849 [GRCh38]
Chr9:137664695 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.*55G>A |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000301460] |
Chr9:134842358 [GRCh38]
Chr9:137734204 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4955-13C>T |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000321678]|Ehlers-Danlos syndrome, classic type, 1 [RCV001865248] |
Chr9:134825779 [GRCh38]
Chr9:137717625 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.1270A>G (p.Thr424Ala) |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000321966]|Ehlers-Danlos syndrome, classic type [RCV001167329]|Ehlers-Danlos syndrome, classic type, 1 [RCV003758759]|not provided [RCV001753842] |
Chr9:134731601 [GRCh38]
Chr9:137623447 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.*1562A>G |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000343846] |
Chr9:134843865 [GRCh38]
Chr9:137735711 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.739G>A (p.Ala247Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000284861]|Ehlers-Danlos syndrome, classic type [RCV001046554]|Ehlers-Danlos syndrome, classic type, 1 [RCV002230205]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314090]|not provided [RCV000481421] |
Chr9:134727350 [GRCh38]
Chr9:137619196 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance|not provided |
| NM_000093.5(COL5A1):c.*865dup |
duplication |
Ehlers-Danlos syndrome type 7A [RCV000302092] |
Chr9:134843155..134843156 [GRCh38]
Chr9:137735001..137735002 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3231A>G (p.Glu1077=) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002278629]|Ehlers-Danlos syndrome type 7A [RCV000302593]|Ehlers-Danlos syndrome, classic type, 1 [RCV002230206]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314092]|not provided [RCV000634690]|not specified [RCV000434210] |
Chr9:134805187 [GRCh38]
Chr9:137697033 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.*629A>G |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000303122] |
Chr9:134842932 [GRCh38]
Chr9:137734778 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4371G>A (p.Pro1457=) |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000346478]|Ehlers-Danlos syndrome, classic type [RCV001168079]|Ehlers-Danlos syndrome, classic type, 1 [RCV002230725]|Familial thoracic aortic aneurysm and aortic dissection [RCV002328892] |
Chr9:134818880 [GRCh38]
Chr9:137710726 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.*1845A>G |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000370168] |
Chr9:134844148 [GRCh38]
Chr9:137735994 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.*2294A>T |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000323460] |
Chr9:134844597 [GRCh38]
Chr9:137736443 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.*83C>T |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000323531]|Ehlers-Danlos syndrome, classic type, 1 [RCV002270229]|Fibromuscular dysplasia, multifocal [RCV002270230]|not provided [RCV001712165] |
Chr9:134842386 [GRCh38]
Chr9:137734232 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.*1260G>A |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000347272]|Ehlers-Danlos syndrome, classic type [RCV001168972] |
Chr9:134843563 [GRCh38]
Chr9:137735409 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.*894T>C |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000371804] |
Chr9:134843197 [GRCh38]
Chr9:137735043 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.*424A>G |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000372758]|Ehlers-Danlos syndrome, classic type [RCV001166024] |
Chr9:134842727 [GRCh38]
Chr9:137734573 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.*2252T>C |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000287206] |
Chr9:134844555 [GRCh38]
Chr9:137736401 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.*1642G>A |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000304055]|Ehlers-Danlos syndrome, classic type [RCV001166075] |
Chr9:134843945 [GRCh38]
Chr9:137735791 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.37C>T (p.Leu13Phe) |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000305176]|Ehlers-Danlos syndrome, classic type [RCV000458222]|Ehlers-Danlos syndrome, classic type, 1 [RCV002230718]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314089]|not provided [RCV001718788] |
Chr9:134642224 [GRCh38]
Chr9:137534070 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.5263G>A (p.Ala1755Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000348087]|Ehlers-Danlos syndrome, classic type [RCV001168153]|Ehlers-Danlos syndrome, classic type, 1 [RCV002230727]|not provided [RCV000755975] |
Chr9:134835097 [GRCh38]
Chr9:137726943 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.431C>A (p.Thr144Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000373170]|Ehlers-Danlos syndrome, classic type [RCV001167270] |
Chr9:134700062 [GRCh38]
Chr9:137591908 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.*1922G>A |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000272139]|Ehlers-Danlos syndrome, classic type [RCV001166077] |
Chr9:134844225 [GRCh38]
Chr9:137736071 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.4370C>T (p.Pro1457Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002278631]|Ehlers-Danlos syndrome type 7A [RCV000288001]|Ehlers-Danlos syndrome, classic type [RCV001168078]|Ehlers-Danlos syndrome, classic type, 1 [RCV002230724]|not provided [RCV000519661] |
Chr9:134818879 [GRCh38]
Chr9:137710725 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.*1443G>A |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000288611] |
Chr9:134843746 [GRCh38]
Chr9:137735592 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.787-9C>T |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000288812]|Ehlers-Danlos syndrome, classic type, 1 [RCV002523756]|not provided [RCV001675884] |
Chr9:134728661 [GRCh38]
Chr9:137620507 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.3564C>T (p.Ile1188=) |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000305969]|Ehlers-Danlos syndrome, classic type, 1 [RCV003593952]|Familial thoracic aortic aneurysm and aortic dissection [RCV003168576]|not provided [RCV000428862] |
Chr9:134811374 [GRCh38]
Chr9:137703220 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.*190G>A |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000327022] |
Chr9:134842493 [GRCh38]
Chr9:137734339 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.*2090C>T |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000327110]|Ehlers-Danlos syndrome, classic type [RCV001166078] |
Chr9:134844393 [GRCh38]
Chr9:137736239 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.3906+15G>C |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000273598]|Ehlers-Danlos syndrome, classic type [RCV001165893]|Ehlers-Danlos syndrome, classic type, 1 [RCV002270226]|Fibromuscular dysplasia, multifocal [RCV002270227]|not specified [RCV000431415] |
Chr9:134814051 [GRCh38]
Chr9:137705897 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.-364G>C |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000352010]|Ehlers-Danlos syndrome, classic type, 1 [RCV002488823] |
Chr9:134641824 [GRCh38]
Chr9:137533670 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.*2395G>T |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000378221] |
Chr9:134844698 [GRCh38]
Chr9:137736544 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3627C>T (p.Phe1209=) |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000308719]|Ehlers-Danlos syndrome, classic type [RCV001165892]|Ehlers-Danlos syndrome, classic type, 1 [RCV002230721] |
Chr9:134811536 [GRCh38]
Chr9:137703382 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.850G>A (p.Glu284Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002278628]|Ehlers-Danlos syndrome type 7A [RCV000308784]|Ehlers-Danlos syndrome, classic type [RCV001078492]|Ehlers-Danlos syndrome, classic type, 1 [RCV002230719]|Familial thoracic aortic aneurysm and aortic dissection [RCV002446627]|not provided [RCV000838662]|not specified [RCV000506113] |
Chr9:134728733 [GRCh38]
Chr9:137620579 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.*269C>T |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000330979]|not provided [RCV001558739] |
Chr9:134842572 [GRCh38]
Chr9:137734418 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.*2485G>A |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000401800] |
Chr9:134844788 [GRCh38]
Chr9:137736634 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.*42C>G |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000401933]|Ehlers-Danlos syndrome, classic type [RCV001168155] |
Chr9:134842345 [GRCh38]
Chr9:137734191 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.*1125A>T |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002278633]|Ehlers-Danlos syndrome type 7A [RCV000292278] |
Chr9:134843428 [GRCh38]
Chr9:137735274 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.*267C>T |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000292334]|Ehlers-Danlos syndrome, classic type, 1 [RCV002270231]|Fibromuscular dysplasia, multifocal [RCV002270232]|not provided [RCV001530877] |
Chr9:134842570 [GRCh38]
Chr9:137734416 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.-382C>G |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000292470]|Ehlers-Danlos syndrome, classic type [RCV001167783]|Ehlers-Danlos syndrome, classic type, 1 [RCV002270220]|Fibromuscular dysplasia, multifocal [RCV002270221]|not provided [RCV001557940] |
Chr9:134641806 [GRCh38]
Chr9:137533652 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.*2175G>A |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000381759] |
Chr9:134844478 [GRCh38]
Chr9:137736324 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.*1806C>T |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000260192] |
Chr9:134844109 [GRCh38]
Chr9:137735955 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.*948C>G |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000277167]|Ehlers-Danlos syndrome, classic type [RCV001168225] |
Chr9:134843251 [GRCh38]
Chr9:137735097 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.5293C>T (p.Arg1765Cys) |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000294248]|Ehlers-Danlos syndrome, classic type, 1 [RCV002230209]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314094]|not provided [RCV000999278]|not specified [RCV003230491] |
Chr9:134835127 [GRCh38]
Chr9:137726973 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.*311C>T |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000334498]|Ehlers-Danlos syndrome, classic type, 1 [RCV002270235]|Fibromuscular dysplasia, multifocal [RCV002270236]|not provided [RCV001653754] |
Chr9:134842614 [GRCh38]
Chr9:137734460 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.*1343A>G |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000383211]|Ehlers-Danlos syndrome, classic type [RCV001168974] |
Chr9:134843646 [GRCh38]
Chr9:137735492 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.2555A>G (p.Asn852Ser) |
single nucleotide variant |
COL5A1-related condition [RCV003902426]|Ehlers-Danlos syndrome type 7A [RCV000383952]|Ehlers-Danlos syndrome, classic type [RCV000525069]|Ehlers-Danlos syndrome, classic type, 1 [RCV002058782]|Familial thoracic aortic aneurysm and aortic dissection [RCV002429333]|not provided [RCV001764335] |
Chr9:134785059 [GRCh38]
Chr9:137676905 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.4275C>T (p.Ile1425=) |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000406672]|Ehlers-Danlos syndrome, classic type, 1 [RCV002230723]|Familial thoracic aortic aneurysm and aortic dissection [RCV002328891] |
Chr9:134818700 [GRCh38]
Chr9:137710546 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.*1637C>A |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000406721] |
Chr9:134843940 [GRCh38]
Chr9:137735786 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.*58C>T |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000358573]|Ehlers-Danlos syndrome, classic type [RCV001168914]|not provided [RCV002292545] |
Chr9:134842361 [GRCh38]
Chr9:137734207 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.2182G>A (p.Ala728Thr) |
single nucleotide variant |
COL5A1-related condition [RCV003912570]|Ehlers-Danlos syndrome type 7A [RCV000359905]|Ehlers-Danlos syndrome, classic type [RCV000864472]|Ehlers-Danlos syndrome, classic type, 1 [RCV002230720]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314091]|not provided [RCV001556719] |
Chr9:134767048 [GRCh38]
Chr9:137658894 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.5371-12C>T |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000407989] |
Chr9:134842145 [GRCh38]
Chr9:137733991 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.*2501T>C |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000279249] |
Chr9:134844804 [GRCh38]
Chr9:137736650 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.*302C>G |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000295926]|Ehlers-Danlos syndrome, classic type [RCV001166023] |
Chr9:134842605 [GRCh38]
Chr9:137734451 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.1734C>T (p.Ser578=) |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000314749]|Ehlers-Danlos syndrome, classic type, 1 [RCV002523757]|Familial thoracic aortic aneurysm and aortic dissection [RCV002402090]|not provided [RCV001778953] |
Chr9:134753864 [GRCh38]
Chr9:137645710 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.*1086ATCT[1] |
microsatellite |
Ehlers-Danlos syndrome type 7A [RCV000386820] |
Chr9:134843387..134843390 [GRCh38]
Chr9:137735233..137735236 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.*1807G>C |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000315434]|Ehlers-Danlos syndrome, classic type [RCV001166076] |
Chr9:134844110 [GRCh38]
Chr9:137735956 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.*2429T>C |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000337934]|Ehlers-Danlos syndrome, classic type [RCV001166551] |
Chr9:134844732 [GRCh38]
Chr9:137736578 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4192G>A (p.Ala1398Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000338075]|Ehlers-Danlos syndrome, classic type, 1 [RCV002230722]|Familial thoracic aortic aneurysm and aortic dissection [RCV003168577] |
Chr9:134817793 [GRCh38]
Chr9:137709639 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.*596A>G |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000338139] |
Chr9:134842899 [GRCh38]
Chr9:137734745 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.*145G>A |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000361921]|Ehlers-Danlos syndrome, classic type [RCV001168915] |
Chr9:134842448 [GRCh38]
Chr9:137734294 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.3573A>G (p.Pro1191=) |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000363015]|Ehlers-Danlos syndrome, classic type [RCV001165891]|Ehlers-Danlos syndrome, classic type, 1 [RCV001514703]|not specified [RCV000609068] |
Chr9:134811383 [GRCh38]
Chr9:137703229 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.*283G>A |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000387894]|Ehlers-Danlos syndrome, classic type [RCV001166022]|Ehlers-Danlos syndrome, classic type, 1 [RCV002270233]|Fibromuscular dysplasia, multifocal [RCV002270234]|not provided [RCV001584095] |
Chr9:134842586 [GRCh38]
Chr9:137734432 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.4795G>C (p.Glu1599Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000264146]|Ehlers-Danlos syndrome, classic type [RCV000866387]|Ehlers-Danlos syndrome, classic type, 1 [RCV002230208]|Familial thoracic aortic aneurysm and aortic dissection [RCV002328893]|Fibromuscular dysplasia, multifocal [RCV002270228]|not provided [RCV001697786] |
Chr9:134824696 [GRCh38]
Chr9:137716542 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.*870_*873dup |
duplication |
Ehlers-Danlos syndrome type 7A [RCV000317278] |
Chr9:134843171..134843172 [GRCh38]
Chr9:137735017..137735018 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.-110A>G |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000340121]|Ehlers-Danlos syndrome, classic type [RCV001169654]|Ehlers-Danlos syndrome, classic type, 1 [RCV002270224]|Fibromuscular dysplasia, multifocal [RCV002270225]|not provided [RCV000833282] |
Chr9:134642078 [GRCh38]
Chr9:137533924 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.*724C>T |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000363777] |
Chr9:134843027 [GRCh38]
Chr9:137734873 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.*733C>A |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002278632]|Ehlers-Danlos syndrome type 7A [RCV000265711]|Ehlers-Danlos syndrome, classic type [RCV001001378]|Ehlers-Danlos syndrome, classic type, 1 [RCV002270237]|Fibromuscular dysplasia, multifocal [RCV002270238] |
Chr9:134843036 [GRCh38]
Chr9:137734882 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1989G>C (p.Arg663Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000299460] |
Chr9:134761978 [GRCh38]
Chr9:137653824 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.*660G>A |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000341630] |
Chr9:134842963 [GRCh38]
Chr9:137734809 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3897C>T (p.Gly1299=) |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000365842]|Ehlers-Danlos syndrome, classic type, 1 [RCV001861348]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314093] |
Chr9:134814027 [GRCh38]
Chr9:137705873 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.*700G>C |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000390970] |
Chr9:134843003 [GRCh38]
Chr9:137734849 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.*608G>A |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000390979]|Ehlers-Danlos syndrome, classic type [RCV001167598] |
Chr9:134842911 [GRCh38]
Chr9:137734757 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.3111G>A (p.Thr1037=) |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000391515]|Ehlers-Danlos syndrome, classic type, 1 [RCV002058783]|Familial thoracic aortic aneurysm and aortic dissection [RCV003168575]|not provided [RCV001591037] |
Chr9:134802992 [GRCh38]
Chr9:137694838 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.-247T>G |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000392884]|Ehlers-Danlos syndrome, classic type, 1 [RCV002270222]|Fibromuscular dysplasia, multifocal [RCV002270223]|not provided [RCV000830142] |
Chr9:134641941 [GRCh38]
Chr9:137533787 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.*173C>T |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000269646] |
Chr9:134842476 [GRCh38]
Chr9:137734322 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.*589G>A |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000280557] |
Chr9:134842892 [GRCh38]
Chr9:137734738 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5148G>A (p.Val1716=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758748]|not provided [RCV000376760] |
Chr9:134834982 [GRCh38]
Chr9:137726828 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.*867_*868insATAGG |
insertion |
Ehlers-Danlos syndrome type 7A [RCV000262004] |
Chr9:134843170..134843171 [GRCh38]
Chr9:137735016..137735017 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.964G>A (p.Glu322Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758749]|not provided [RCV000347671] |
Chr9:134730275 [GRCh38]
Chr9:137622121 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2034+1G>A |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002278263]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229740]|not provided [RCV000724902] |
Chr9:134763738 [GRCh38]
Chr9:137655584 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic |
| NM_000093.5(COL5A1):c.4392+5G>A |
single nucleotide variant |
not provided [RCV000351632] |
Chr9:134818906 [GRCh38]
Chr9:137710752 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.*1849ACAA[3] |
microsatellite |
Ehlers-Danlos syndrome type 7A [RCV000275131] |
Chr9:134844151..134844152 [GRCh38]
Chr9:137735997..137735998 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1207G>T (p.Glu403Ter) |
single nucleotide variant |
not provided [RCV000379384] |
Chr9:134731538 [GRCh38]
Chr9:137623384 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.*68C>T |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000266199] |
Chr9:134842371 [GRCh38]
Chr9:137734217 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.277+6T>G |
single nucleotide variant |
COL5A1-related condition [RCV003920058]|Ehlers-Danlos syndrome, classic type, 1 [RCV000634682]|Fibromuscular dysplasia, multifocal [RCV002270205]|not specified [RCV000324632] |
Chr9:134691085 [GRCh38]
Chr9:137582931 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3397C>T (p.Arg1133Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV003987487]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229736]|not provided [RCV000399617] |
Chr9:134809213 [GRCh38]
Chr9:137701059 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.1752G>A (p.Glu584=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758744]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314008]|not provided [RCV000725334]|not specified [RCV000365354] |
Chr9:134753882 [GRCh38]
Chr9:137645728 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.3344C>T (p.Pro1115Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001855206]|not provided [RCV000726147] |
Chr9:134806274 [GRCh38]
Chr9:137698120 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.67CTG[7] (p.Leu28dup) |
microsatellite |
Ehlers-Danlos syndrome [RCV002278295]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229747]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314016]|not provided [RCV000824723] |
Chr9:134642252..134642253 [GRCh38]
Chr9:137534098..137534099 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.-287G>C |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000279509] |
Chr9:134641901 [GRCh38]
Chr9:137533747 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.94C>T (p.Pro32Ser) |
single nucleotide variant |
not provided [RCV000370242] |
Chr9:134642281 [GRCh38]
Chr9:137534127 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1850C>A (p.Ala617Asp) |
single nucleotide variant |
not provided [RCV003238985] |
Chr9:134756787 [GRCh38]
Chr9:137648633 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3341G>C (p.Gly1114Ala) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001856892]|Familial thoracic aortic aneurysm and aortic dissection [RCV002323849]|not provided [RCV000489324] |
Chr9:134806271 [GRCh38]
Chr9:137698117 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|uncertain significance |
| NM_000093.5(COL5A1):c.5339C>A (p.Pro1780His) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231205]|Ehlers-Danlos syndrome, classic type, 1 [RCV002497010]|Familial thoracic aortic aneurysm and aortic dissection [RCV002350147]|not provided [RCV000519699] |
Chr9:134835173 [GRCh38]
Chr9:137727019 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.5136+73G>A |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV000509316]|not provided [RCV000489504] |
Chr9:134830117 [GRCh38]
Chr9:137721963 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance|not provided |
| NM_000093.5(COL5A1):c.3551C>T (p.Pro1184Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230970]|not provided [RCV000489527] |
Chr9:134811361 [GRCh38]
Chr9:137703207 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.2484+25G>C |
single nucleotide variant |
not provided [RCV001545093] |
Chr9:134782745 [GRCh38]
Chr9:137674591 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.467G>A (p.Arg156Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231124]|not provided [RCV000489708] |
Chr9:134700098 [GRCh38]
Chr9:137591944 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.4703C>T (p.Pro1568Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593978]|not provided [RCV000523175] |
Chr9:134824604 [GRCh38]
Chr9:137716450 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.4955G>C (p.Gly1652Ala) |
single nucleotide variant |
not provided [RCV000723152] |
Chr9:134825792 [GRCh38]
Chr9:137717638 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.526A>C (p.Asn176His) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231637]|Familial thoracic aortic aneurysm and aortic dissection [RCV002350152]|not provided [RCV000519904] |
Chr9:134701205 [GRCh38]
Chr9:137593051 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.4367G>T (p.Gly1456Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233732]|not provided [RCV000722433] |
Chr9:134818876 [GRCh38]
Chr9:137710722 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4678C>G (p.Pro1560Ala) |
single nucleotide variant |
not provided [RCV000523899] |
Chr9:134823449 [GRCh38]
Chr9:137715295 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.962C>T (p.Pro321Leu) |
single nucleotide variant |
not provided [RCV000490128] |
Chr9:134730273 [GRCh38]
Chr9:137622119 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1502del (p.Pro501fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002250640]|not provided [RCV000490153] |
Chr9:134750544 [GRCh38]
Chr9:137642390 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.3260G>C (p.Gly1087Ala) |
single nucleotide variant |
COL5A1-related condition [RCV003960136]|Ehlers-Danlos syndrome, classic type [RCV000767943]|Ehlers-Danlos syndrome, classic type, 1 [RCV002231123]|Ehlers-Danlos syndrome, classic type, 1 [RCV003224299]|not provided [RCV000488963] |
Chr9:134806190 [GRCh38]
Chr9:137698036 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.*1848C>G |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000330198] |
Chr9:134844151 [GRCh38]
Chr9:137735997 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.350T>G (p.Val117Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002314236] |
Chr9:134699981 [GRCh38]
Chr9:137591827 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3939G>T (p.Glu1313Asp) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002278630]|Ehlers-Danlos syndrome type 7A [RCV000330772]|Ehlers-Danlos syndrome, classic type [RCV000820322]|Ehlers-Danlos syndrome, classic type, 1 [RCV002230207]|Familial thoracic aortic aneurysm and aortic dissection [RCV002356502]|not provided [RCV001567484] |
Chr9:134814829 [GRCh38]
Chr9:137706675 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.*1047_*1049dup |
duplication |
Ehlers-Danlos syndrome type 7A [RCV000332339] |
Chr9:134843347..134843348 [GRCh38]
Chr9:137735193..137735194 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.*235C>T |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000384349] |
Chr9:134842538 [GRCh38]
Chr9:137734384 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.*1887G>A |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000385278] |
Chr9:134844190 [GRCh38]
Chr9:137736036 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.*2410C>G |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000283726] |
Chr9:134844713 [GRCh38]
Chr9:137736559 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.*727dup |
duplication |
Ehlers-Danlos syndrome type 7A [RCV000306712] |
Chr9:134843026..134843027 [GRCh38]
Chr9:137734872..137734873 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.-276AGG[7] |
microsatellite |
Ehlers-Danlos syndrome type 7A [RCV000334416] |
Chr9:134641909..134641910 [GRCh38]
Chr9:137533755..137533756 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1830T>C (p.Gly610=) |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000334483] |
Chr9:134756767 [GRCh38]
Chr9:137648613 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.365A>G (p.Glu122Gly) |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000367781]|Ehlers-Danlos syndrome, classic type, 1 [RCV001865247] |
Chr9:134699996 [GRCh38]
Chr9:137591842 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.-357G>T |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000387884] |
Chr9:134641831 [GRCh38]
Chr9:137533677 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.*1734G>A |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000406718] |
Chr9:134844037 [GRCh38]
Chr9:137735883 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| GRCh37/hg19 9q34.2-34.3(chr9:137397915-138210649)x3 |
copy number gain |
See cases [RCV002285044] |
Chr9:137397915..138210649 [GRCh37]
Chr9:9q34.2-34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5439G>T (p.Val1813=) |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000297961]|Ehlers-Danlos syndrome, classic type, 1 [RCV002524591]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314095]|not provided [RCV001718789] |
Chr9:134842225 [GRCh38]
Chr9:137734071 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.*1788G>A |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000355033] |
Chr9:134844091 [GRCh38]
Chr9:137735937 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5371-19C>T |
single nucleotide variant |
not specified [RCV000605060] |
Chr9:134842138 [GRCh38]
Chr9:137733984 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.-139G>T |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000299247] |
Chr9:134642049 [GRCh38]
Chr9:137533895 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.*1653dup |
duplication |
Ehlers-Danlos syndrome type 7A [RCV000340263] |
Chr9:134843950..134843951 [GRCh38]
Chr9:137735796..137735797 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4791T>C (p.Asn1597=) |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000356542]|Ehlers-Danlos syndrome, classic type, 1 [RCV002230726]|Familial thoracic aortic aneurysm and aortic dissection [RCV003380554] |
Chr9:134824692 [GRCh38]
Chr9:137716538 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.*866_*867insTAG |
insertion |
Ehlers-Danlos syndrome type 7A [RCV000356875] |
Chr9:134843169..134843170 [GRCh38]
Chr9:137735015..137735016 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3225C>T (p.Gly1075=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002314249] |
Chr9:134805181 [GRCh38]
Chr9:137697027 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.*1787G>A |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000300088] |
Chr9:134844090 [GRCh38]
Chr9:137735936 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3403G>A (p.Gly1135Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231204]|not provided [RCV000523112] |
Chr9:134809219 [GRCh38]
Chr9:137701065 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.660C>G (p.Asp220Glu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003767794]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314263]|not provided [RCV000757122] |
Chr9:134727271 [GRCh38]
Chr9:137619117 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.1332+20C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002531539]|not specified [RCV000600134] |
Chr9:134731683 [GRCh38]
Chr9:137623529 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1332+4dup |
duplication |
Ehlers-Danlos syndrome type 7A [RCV000376607]|Ehlers-Danlos syndrome, classic type, 1 [RCV001861347]|Familial thoracic aortic aneurysm and aortic dissection [RCV002379259] |
Chr9:134731666..134731667 [GRCh38]
Chr9:137623512..137623513 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2385G>A (p.Lys795=) |
single nucleotide variant |
not provided [RCV000578701] |
Chr9:134774912 [GRCh38]
Chr9:137666758 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5389A>C (p.Lys1797Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233022]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314246] |
Chr9:134842175 [GRCh38]
Chr9:137734021 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.4805_4813dup (p.Val1602_Tyr1604dup) |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231305]|not provided [RCV003144324] |
Chr9:134824699..134824700 [GRCh38]
Chr9:137716545..137716546 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.82C>A (p.Leu28Met) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001860394]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314234]|not provided [RCV001553163] |
Chr9:134642269 [GRCh38]
Chr9:137534115 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.4423G>C (p.Asp1475His) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231300] |
Chr9:134819030 [GRCh38]
Chr9:137710876 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2988dup (p.Gly997fs) |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231290]|not provided [RCV001564063] |
Chr9:134801982..134801983 [GRCh38]
Chr9:137693828..137693829 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.4656_4660del (p.Pro1553fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231304] |
Chr9:134823427..134823431 [GRCh38]
Chr9:137715273..137715277 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.2184C>A (p.Ala728=) |
single nucleotide variant |
COL5A1-related condition [RCV003942758]|Ehlers-Danlos syndrome, classic type, 1 [RCV002231287]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314955]|not specified [RCV000615661] |
Chr9:134767050 [GRCh38]
Chr9:137658896 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1936-15C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002529639]|not specified [RCV000606320] |
Chr9:134761910 [GRCh38]
Chr9:137653756 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2065C>T (p.Pro689Ser) |
single nucleotide variant |
Aortic dilatation [RCV000583877] |
Chr9:134765711 [GRCh38]
Chr9:137657557 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3594C>T (p.Gly1198=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233018]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314226]|not provided [RCV001799691]|not specified [RCV003323639] |
Chr9:134811503 [GRCh38]
Chr9:137703349 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.2592+17G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002063915]|not specified [RCV000600791] |
Chr9:134785113 [GRCh38]
Chr9:137676959 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.628C>T (p.Arg210Trp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 2 [RCV001198012]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314251] |
Chr9:134701307 [GRCh38]
Chr9:137593153 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4508G>A (p.Arg1503His) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000560837]|Ehlers-Danlos syndrome, classic type, 1 [RCV002231302] |
Chr9:134820177 [GRCh38]
Chr9:137712023 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance|not provided |
| NM_000093.5(COL5A1):c.2709T>C (p.Pro903=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002526937]|not provided [RCV000579132] |
Chr9:134795090 [GRCh38]
Chr9:137686936 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.515T>A (p.Val172Asp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000582677]|Ehlers-Danlos syndrome, classic type, 1 [RCV002530825] |
Chr9:134701194 [GRCh38]
Chr9:137593040 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|uncertain significance |
| NM_000093.5(COL5A1):c.4844_4845del (p.Leu1615fs) |
microsatellite |
not provided [RCV000599336] |
Chr9:134824740..134824741 [GRCh38]
Chr9:137716586..137716587 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.732_733del (p.Cys244_Asp245delinsTer) |
microsatellite |
not provided [RCV000599250] |
Chr9:134727341..134727342 [GRCh38]
Chr9:137619187..137619188 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.4494_4502dup (p.Glu1499_Gly1501dup) |
duplication |
not provided [RCV000599362] |
Chr9:134820158..134820159 [GRCh38]
Chr9:137712004..137712005 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3720T>C (p.Gly1240=) |
single nucleotide variant |
not provided [RCV000593508] |
Chr9:134812478 [GRCh38]
Chr9:137704324 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4536C>T (p.Ser1512=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002232576]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315902]|not provided [RCV000755973] |
Chr9:134820205 [GRCh38]
Chr9:137712051 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4608+7A>T |
single nucleotide variant |
not specified [RCV000599719] |
Chr9:134822157 [GRCh38]
Chr9:137714003 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.219C>T (p.Val73=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758883]|Familial thoracic aortic aneurysm and aortic dissection [RCV002431795]|not provided [RCV000954803]|not specified [RCV000602953] |
Chr9:134691021 [GRCh38]
Chr9:137582867 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.803G>T (p.Gly268Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233024]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314265] |
Chr9:134728686 [GRCh38]
Chr9:137620532 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.5460C>T (p.Phe1820=) |
single nucleotide variant |
COL5A1-related condition [RCV003905590]|Ehlers-Danlos syndrome, classic type, 1 [RCV002063032]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315904]|not specified [RCV000601122] |
Chr9:134842246 [GRCh38]
Chr9:137734092 [GRCh37]
Chr9:9q34.3 |
likely benign |
| Single allele |
single nucleotide variant |
not provided [RCV000597921] |
Chr9:137703445 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.353C>G (p.Ser118Cys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002232761]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314255] |
Chr9:134699984 [GRCh38]
Chr9:137591830 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.301T>C (p.Ser101Pro) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594007]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314241] |
Chr9:134699932 [GRCh38]
Chr9:137591778 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.354C>T (p.Ser118=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002232758]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314233] |
Chr9:134699985 [GRCh38]
Chr9:137591831 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4748C>T (p.Thr1583Met) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV001036507]|Ehlers-Danlos syndrome, classic type, 1 [RCV002232209]|Loeys-Dietz syndrome [RCV000581971]|not provided [RCV001755978] |
Chr9:134824649 [GRCh38]
Chr9:137716495 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.4113C>T (p.Pro1371=) |
single nucleotide variant |
COL5A1-related condition [RCV003965301]|Ehlers-Danlos syndrome, classic type, 1 [RCV002232757]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314231]|not specified [RCV003330837] |
Chr9:134815979 [GRCh38]
Chr9:137707825 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4366G>A (p.Gly1456Ser) |
single nucleotide variant |
not provided [RCV000723115] |
Chr9:134818875 [GRCh38]
Chr9:137710721 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2722C>T (p.Pro908Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230750]|Ehlers-Danlos syndrome, classic type, 1 [RCV003224270]|Familial thoracic aortic aneurysm and aortic dissection [RCV002429341]|not provided [RCV001575732]|not specified [RCV000414656] |
Chr9:134795103 [GRCh38]
Chr9:137686949 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance|no classifications from unflagged records |
| NM_000093.5(COL5A1):c.1389G>A (p.Pro463=) |
single nucleotide variant |
Cardiac arrhythmia [RCV000414877]|Ehlers-Danlos syndrome, classic type, 1 [RCV003758762]|See cases [RCV001199297]|not provided [RCV000479910] |
Chr9:134732127 [GRCh38]
Chr9:137623973 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2903del (p.Pro968fs) |
deletion |
Clubfoot [RCV000415033] |
Chr9:134798410 [GRCh38]
Chr9:137690256 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.3762del (p.Gly1255fs) |
deletion |
Ehlers-Danlos syndrome, classic type [RCV000415258]|Familial thoracic aortic aneurysm and aortic dissection [RCV002348135] |
Chr9:134812622 [GRCh38]
Chr9:137704468 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.2382C>T (p.Val794=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002521474]|not provided [RCV000416112] |
Chr9:134774909 [GRCh38]
Chr9:137666755 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.2503G>A (p.Gly835Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002314117]|not specified [RCV000413344] |
Chr9:134785007 [GRCh38]
Chr9:137676853 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5473C>T (p.Gln1825Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV001069019]|not provided [RCV000413639] |
Chr9:134842259 [GRCh38]
Chr9:137734105 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|uncertain significance |
| NM_000093.5(COL5A1):c.3510G>A (p.Lys1170=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231295] |
Chr9:134810290 [GRCh38]
Chr9:137702136 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4941C>T (p.Pro1647=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000540186]|Ehlers-Danlos syndrome, classic type, 1 [RCV002231306]|Familial thoracic aortic aneurysm and aortic dissection [RCV002341287]|Fibromuscular dysplasia, multifocal [RCV002270639]|not provided [RCV002512111]|not specified [RCV000600177] |
Chr9:134824842 [GRCh38]
Chr9:137716688 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.2983C>G (p.Pro995Ala) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230751]|not provided [RCV001550910]|not specified [RCV000414225] |
Chr9:134801984 [GRCh38]
Chr9:137693830 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance|no classifications from unflagged records |
| NM_000093.5(COL5A1):c.2030A>T (p.Glu677Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000767942]|Ehlers-Danlos syndrome, classic type, 1 [RCV003224401] |
Chr9:134763733 [GRCh38]
Chr9:137655579 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2140C>T (p.Gln714Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV001218966]|not provided [RCV000521865] |
Chr9:134767006 [GRCh38]
Chr9:137658852 [GRCh37]
Chr9:9q34.3 |
pathogenic|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 |
| NM_000093.5(COL5A1):c.4048C>G (p.Pro1350Ala) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003153668]|not provided [RCV002225645] |
Chr9:134815609 [GRCh38]
Chr9:137707455 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.4176+3A>T |
single nucleotide variant |
not provided [RCV000522932] |
Chr9:134817082 [GRCh38]
Chr9:137708928 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| 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_000093.5(COL5A1):c.3114+10T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002522505]|not specified [RCV000423787] |
Chr9:134803005 [GRCh38]
Chr9:137694851 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2701-12C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002058893]|not specified [RCV000430939] |
Chr9:134795070 [GRCh38]
Chr9:137686916 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2484+6C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230050]|not provided [RCV001579964] |
Chr9:134782726 [GRCh38]
Chr9:137674572 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.363C>T (p.Asn121=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230271]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313101]|not provided [RCV001704349] |
Chr9:134699994 [GRCh38]
Chr9:137591840 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.655-16G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002059741]|not specified [RCV000431195] |
Chr9:134727250 [GRCh38]
Chr9:137619096 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2800-18C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002061363]|Ehlers-Danlos syndrome, classic type, 1 [RCV002502468]|Fibromuscular dysplasia, multifocal [RCV002270249]|not specified [RCV000441653] |
Chr9:134796356 [GRCh38]
Chr9:137688202 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.4555-15T>A |
single nucleotide variant |
not specified [RCV000445312] |
Chr9:134822082 [GRCh38]
Chr9:137713928 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.278-4C>A |
single nucleotide variant |
not specified [RCV000417858] |
Chr9:134699905 [GRCh38]
Chr9:137591751 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4287G>C (p.Gly1429=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002056666]|not specified [RCV000420963] |
Chr9:134818712 [GRCh38]
Chr9:137710558 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2187+10C>T |
single nucleotide variant |
not specified [RCV000431350] |
Chr9:134767063 [GRCh38]
Chr9:137658909 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5136+17C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002519532]|not specified [RCV000434731] |
Chr9:134830061 [GRCh38]
Chr9:137721907 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2898+20C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002063590]|not provided [RCV001698387] |
Chr9:134796921 [GRCh38]
Chr9:137688767 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3750C>G (p.Pro1250=) |
single nucleotide variant |
COL5A1-related condition [RCV003970157]|Ehlers-Danlos syndrome, classic type, 1 [RCV002230034]|Familial thoracic aortic aneurysm and aortic dissection [RCV002348188]|not specified [RCV000441884] |
Chr9:134812610 [GRCh38]
Chr9:137704456 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.277+20G>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002525335]|not specified [RCV000427952] |
Chr9:134691099 [GRCh38]
Chr9:137582945 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.12T>C (p.His4=) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002278674]|Ehlers-Danlos syndrome, classic type, 1 [RCV002230015]|Ehlers-Danlos syndrome, classic type, 1 [RCV002488905]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313055]|Fibromuscular dysplasia, multifocal [RCV002270258]|not specified [RCV000428015] |
Chr9:134642199 [GRCh38]
Chr9:137534045 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.497A>G (p.His166Arg) |
single nucleotide variant |
not provided [RCV000442383] |
Chr9:134701176 [GRCh38]
Chr9:137593022 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3402C>T (p.Asp1134=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV001087567]|Ehlers-Danlos syndrome, classic type, 1 [RCV002230046]|Familial thoracic aortic aneurysm and aortic dissection [RCV002450998]|not provided [RCV000757121] |
Chr9:134809218 [GRCh38]
Chr9:137701064 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5370+14G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002521585]|not specified [RCV000421339] |
Chr9:134835218 [GRCh38]
Chr9:137727064 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.3900C>T (p.Gly1300=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593960]|not specified [RCV000424836] |
Chr9:134814030 [GRCh38]
Chr9:137705876 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2676C>T (p.Gly892=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593956]|Familial thoracic aortic aneurysm and aortic dissection [RCV002436322]|not specified [RCV000428402] |
Chr9:134789184 [GRCh38]
Chr9:137681030 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2174A>G (p.Asn725Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000766048]|Ehlers-Danlos syndrome, classic type, 1 [RCV002230297]|not provided [RCV000438742] |
Chr9:134767040 [GRCh38]
Chr9:137658886 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.4231-16C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002521840]|not specified [RCV000438883] |
Chr9:134818640 [GRCh38]
Chr9:137710486 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3545C>T (p.Thr1182Ile) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001851110]|not provided [RCV000421483] |
Chr9:134811355 [GRCh38]
Chr9:137703201 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3528+14C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002061365]|Fibromuscular dysplasia, multifocal [RCV002270251]|not specified [RCV000421585] |
Chr9:134810322 [GRCh38]
Chr9:137702168 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.*15G>A |
single nucleotide variant |
not specified [RCV000421603] |
Chr9:134842318 [GRCh38]
Chr9:137734164 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4393-7C>T |
single nucleotide variant |
not specified [RCV000428628] |
Chr9:134818993 [GRCh38]
Chr9:137710839 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1197C>T (p.Asp399=) |
single nucleotide variant |
not specified [RCV000435591] |
Chr9:134731528 [GRCh38]
Chr9:137623374 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4386C>T (p.Gly1462=) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002279215]|Ehlers-Danlos syndrome, classic type, 1 [RCV002230286]|Familial thoracic aortic aneurysm and aortic dissection [RCV003168697]|not provided [RCV001698323] |
Chr9:134818895 [GRCh38]
Chr9:137710741 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.513C>T (p.Ser171=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002524760]|not provided [RCV001718819] |
Chr9:134701192 [GRCh38]
Chr9:137593038 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2700+16C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002525471]|not specified [RCV000421860] |
Chr9:134789224 [GRCh38]
Chr9:137681070 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.2580C>A (p.Pro860=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002521815]|not specified [RCV000425212] |
Chr9:134785084 [GRCh38]
Chr9:137676930 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3201A>G (p.Pro1067=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002323611]|not specified [RCV000439321] |
Chr9:134805061 [GRCh38]
Chr9:137696907 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3960C>T (p.Ala1320=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV001475431]|not provided [RCV000634662] |
Chr9:134814850 [GRCh38]
Chr9:137706696 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1827+16G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001851073]|not specified [RCV000443045] |
Chr9:134754342 [GRCh38]
Chr9:137646188 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3744+19C>T |
single nucleotide variant |
Connective tissue disorder [RCV000659455]|Ehlers-Danlos syndrome, classic type, 1 [RCV002062385]|Fibromuscular dysplasia, multifocal [RCV002270259]|not specified [RCV000419228] |
Chr9:134812521 [GRCh38]
Chr9:137704367 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.2386-9C>T |
single nucleotide variant |
not specified [RCV000419406] |
Chr9:134780093 [GRCh38]
Chr9:137671939 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4659G>A (p.Pro1553=) |
single nucleotide variant |
COL5A1-related condition [RCV003899884]|Ehlers-Danlos syndrome, classic type, 1 [RCV000867483]|Familial thoracic aortic aneurysm and aortic dissection [RCV003168686]|Fibromuscular dysplasia, multifocal [RCV002270436]|not provided [RCV003457681]|not specified [RCV000432452] |
Chr9:134823430 [GRCh38]
Chr9:137715276 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.1794C>G (p.Gly598=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758766]|not specified [RCV000432533] |
Chr9:134754293 [GRCh38]
Chr9:137646139 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3690+6T>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230056]|not provided [RCV001721303]|not specified [RCV003330673] |
Chr9:134811605 [GRCh38]
Chr9:137703451 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.3912C>T (p.Pro1304=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229921]|Familial thoracic aortic aneurysm and aortic dissection [RCV002356522]|not provided [RCV001718820] |
Chr9:134814802 [GRCh38]
Chr9:137706648 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5469G>C (p.Ala1823=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV000634674]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314139]|Fibromuscular dysplasia, multifocal [RCV002270252]|not provided [RCV001705561] |
Chr9:134842255 [GRCh38]
Chr9:137734101 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.4123-10C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002060083]|not specified [RCV000432618] |
Chr9:134817016 [GRCh38]
Chr9:137708862 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4586C>A (p.Pro1529His) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230243]|not provided [RCV000432639] |
Chr9:134822128 [GRCh38]
Chr9:137713974 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.408C>T (p.Pro136=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230266]|Familial thoracic aortic aneurysm and aortic dissection [RCV002323625]|not provided [RCV001704275] |
Chr9:134700039 [GRCh38]
Chr9:137591885 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1774-7C>A |
single nucleotide variant |
COL5A1-related condition [RCV003932556]|Ehlers-Danlos syndrome, classic type, 1 [RCV002230235]|Fibromuscular dysplasia, multifocal [RCV002270248]|not specified [RCV000419740] |
Chr9:134754266 [GRCh38]
Chr9:137646112 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.4692C>A (p.Gly1564=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002062602]|Familial thoracic aortic aneurysm and aortic dissection [RCV003168650]|not specified [RCV000429456] |
Chr9:134823463 [GRCh38]
Chr9:137715309 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1809C>T (p.Ala603=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230280]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313116]|not provided [RCV000432834]|not specified [RCV003401430] |
Chr9:134754308 [GRCh38]
Chr9:137646154 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.36G>C (p.Ala12=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229919]|Familial thoracic aortic aneurysm and aortic dissection [RCV002348147]|not provided [RCV001712189] |
Chr9:134642223 [GRCh38]
Chr9:137534069 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2079C>T (p.Pro693=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002521806]|Familial thoracic aortic aneurysm and aortic dissection [RCV003168668]|not specified [RCV000439972] |
Chr9:134765725 [GRCh38]
Chr9:137657571 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3528+19G>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002060019]|Fibromuscular dysplasia, multifocal [RCV002270454]|not specified [RCV000419923] |
Chr9:134810327 [GRCh38]
Chr9:137702173 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.2181C>A (p.Gly727=) |
single nucleotide variant |
not specified [RCV000433005] |
Chr9:134767047 [GRCh38]
Chr9:137658893 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2544C>A (p.Arg848=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229920]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314138]|not specified [RCV000440260] |
Chr9:134785048 [GRCh38]
Chr9:137676894 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3366+18T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002062681]|not specified [RCV000440316] |
Chr9:134806314 [GRCh38]
Chr9:137698160 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2899-13G>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593959]|not provided [RCV001721459] |
Chr9:134798395 [GRCh38]
Chr9:137690241 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.231C>T (p.Val77=) |
single nucleotide variant |
not specified [RCV000426323] |
Chr9:134691033 [GRCh38]
Chr9:137582879 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4338+18G>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003766239]|not specified [RCV000426394] |
Chr9:134818781 [GRCh38]
Chr9:137710627 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5469G>A (p.Ala1823=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230029]|Familial thoracic aortic aneurysm and aortic dissection [RCV002348183]|not specified [RCV000429971] |
Chr9:134842255 [GRCh38]
Chr9:137734101 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3906+15G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002056668]|Fibromuscular dysplasia, multifocal [RCV002270487]|not specified [RCV000433303] |
Chr9:134814051 [GRCh38]
Chr9:137705897 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.5068-13G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002065018]|not provided [RCV001712233] |
Chr9:134829963 [GRCh38]
Chr9:137721809 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2424C>T (p.Gly808=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002522702]|Familial thoracic aortic aneurysm and aortic dissection [RCV002451054]|not provided [RCV000423003] |
Chr9:134780140 [GRCh38]
Chr9:137671986 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.2646+14G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002061362]|not specified [RCV000423043] |
Chr9:134786062 [GRCh38]
Chr9:137677908 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.*8C>T |
single nucleotide variant |
COL5A1-related condition [RCV003912769]|not provided [RCV001698380] |
Chr9:134842311 [GRCh38]
Chr9:137734157 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5313C>T (p.Asp1771=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230262]|not specified [RCV000430534] |
Chr9:134835147 [GRCh38]
Chr9:137726993 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3054G>A (p.Gly1018=) |
single nucleotide variant |
not specified [RCV000440875] |
Chr9:134802935 [GRCh38]
Chr9:137694781 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1774-16C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002059742]|not specified [RCV000441012] |
Chr9:134754257 [GRCh38]
Chr9:137646103 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2817C>T (p.Asp939=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002061364]|Familial thoracic aortic aneurysm and aortic dissection [RCV003168623]|Fibromuscular dysplasia, multifocal [RCV002270250]|not specified [RCV000423508] |
Chr9:134796391 [GRCh38]
Chr9:137688237 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.-33G>T |
single nucleotide variant |
not specified [RCV000441130] |
Chr9:134642155 [GRCh38]
Chr9:137534001 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4608+19C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002521695]|not specified [RCV000441147] |
Chr9:134822169 [GRCh38]
Chr9:137714015 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2203dup (p.Gln735fs) |
duplication |
Ehlers-Danlos syndrome, classic type [RCV000417109] |
Chr9:134767320..134767321 [GRCh38]
Chr9:137659166..137659167 [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 |
| 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 |
| NM_000093.5(COL5A1):c.4495G>A (p.Glu1499Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230389] |
Chr9:134820164 [GRCh38]
Chr9:137712010 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4954+6G>C |
single nucleotide variant |
Connective tissue disorder [RCV000659463]|Ehlers-Danlos syndrome, classic type, 1 [RCV002230823]|not provided [RCV001775809] |
Chr9:134824861 [GRCh38]
Chr9:137716707 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5414C>A (p.Pro1805His) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758789]|not provided [RCV000479399] |
Chr9:134842200 [GRCh38]
Chr9:137734046 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4203del (p.Gly1402fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230383] |
Chr9:134817803 [GRCh38]
Chr9:137709649 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.2232+4G>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230386] |
Chr9:134767358 [GRCh38]
Chr9:137659204 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.548G>A (p.Cys183Tyr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230826] |
Chr9:134701227 [GRCh38]
Chr9:137593073 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2049G>C (p.Leu683=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230854]|not specified [RCV000613359] |
Chr9:134765695 [GRCh38]
Chr9:137657541 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.4(COL5A1):c.4232delG |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230834] |
Chr9:134818655 [GRCh38]
Chr9:137710501 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.2089-8G>A |
single nucleotide variant |
COL5A1-related condition [RCV003962332]|Ehlers-Danlos syndrome, classic type, 1 [RCV002231084]|not provided [RCV000479445] |
Chr9:134766446 [GRCh38]
Chr9:137658292 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.3584_3585delinsAT (p.Gly1195Asp) |
indel |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230822] |
Chr9:134811493..134811494 [GRCh38]
Chr9:137703339..137703340 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2482C>T (p.Arg828Trp) |
single nucleotide variant |
COL5A1-related condition [RCV003960087]|Ehlers-Danlos syndrome, classic type, 1 [RCV002230680]|Familial thoracic aortic aneurysm and aortic dissection [RCV002431360]|not provided [RCV000470723] |
Chr9:134782718 [GRCh38]
Chr9:137674564 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2431-7T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230681] |
Chr9:134782660 [GRCh38]
Chr9:137674506 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.6C>G (p.Asp2Glu) |
single nucleotide variant |
not provided [RCV000479742] |
Chr9:134642193 [GRCh38]
Chr9:137534039 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4910G>A (p.Arg1637His) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230914]|Familial thoracic aortic aneurysm and aortic dissection [RCV002341135]|not provided [RCV000484010] |
Chr9:134824811 [GRCh38]
Chr9:137716657 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.2723C>T (p.Pro908Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000459576]|Ehlers-Danlos syndrome, classic type, 1 [RCV002230830] |
Chr9:134795104 [GRCh38]
Chr9:137686950 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.2425G>A (p.Glu809Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230380] |
Chr9:134780141 [GRCh38]
Chr9:137671987 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.2143G>T (p.Gly715Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230833] |
Chr9:134767009 [GRCh38]
Chr9:137658855 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.3257C>T (p.Ala1086Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230381]|Familial thoracic aortic aneurysm and aortic dissection [RCV002323718]|not provided [RCV001508653]|not specified [RCV000506345] |
Chr9:134805213 [GRCh38]
Chr9:137697059 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|uncertain significance |
| NC_000009.11:g.(?_137533651)_(137534142_?)dup |
duplication |
Ehlers-Danlos syndrome, classic type [RCV000467487] |
Chr9:134641805..134642296 [GRCh38]
Chr9:137533651..137534142 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3988G>A (p.Gly1330Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230382] |
Chr9:134814878 [GRCh38]
Chr9:137706724 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5311G>A (p.Asp1771Asn) |
single nucleotide variant |
COL5A1-related condition [RCV003431044]|Ehlers-Danlos syndrome, classic type, 1 [RCV001333205]|not provided [RCV000480520] |
Chr9:134835145 [GRCh38]
Chr9:137726991 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.1075G>T (p.Glu359Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230373] |
Chr9:134730386 [GRCh38]
Chr9:137622232 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.1271C>G (p.Thr424Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230376] |
Chr9:134731602 [GRCh38]
Chr9:137623448 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.1332+1G>T |
single nucleotide variant |
not provided [RCV000483216] |
Chr9:134731664 [GRCh38]
Chr9:137623510 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.3592G>A (p.Gly1198Ser) |
single nucleotide variant |
Connective tissue disorder [RCV000659452]|Ehlers-Danlos syndrome, classic type, 1 [RCV002230835]|Ehlers-Danlos syndrome, classic type, 2 [RCV001535469]|not provided [RCV001568182] |
Chr9:134811501 [GRCh38]
Chr9:137703347 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance|not provided |
| NM_000093.5(COL5A1):c.1920C>T (p.Gly640=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230379]|not provided [RCV003736776] |
Chr9:134758281 [GRCh38]
Chr9:137650127 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.792G>T (p.Thr264=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230856] |
Chr9:134728675 [GRCh38]
Chr9:137620521 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5370+3_5370+8delinsC |
indel |
not provided [RCV000483786] |
Chr9:134835207..134835212 [GRCh38]
Chr9:137727053..137727058 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.4651A>C (p.Thr1551Pro) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001865486]|not provided [RCV000480842] |
Chr9:134823422 [GRCh38]
Chr9:137715268 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4121C>T (p.Thr1374Met) |
single nucleotide variant |
COL5A1-related condition [RCV003942586]|Ehlers-Danlos syndrome [RCV002279240]|Ehlers-Danlos syndrome, classic type, 1 [RCV002231099]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313245]|not provided [RCV000762590] |
Chr9:134815987 [GRCh38]
Chr9:137707833 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.1787T>C (p.Val596Ala) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230831]|not provided [RCV000478013] |
Chr9:134754286 [GRCh38]
Chr9:137646132 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.922G>A (p.Glu308Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230832] |
Chr9:134728805 [GRCh38]
Chr9:137620651 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NC_000009.12:g.(?_134701171)_(134835204_?)del |
deletion |
Ehlers-Danlos syndrome, classic type [RCV000460838] |
Chr9:134701171..134835204 [GRCh38]
Chr9:137593017..137727050 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.52C>T (p.Pro18Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230387]|Familial thoracic aortic aneurysm and aortic dissection [RCV002348313]|not provided [RCV000518865] |
Chr9:134642239 [GRCh38]
Chr9:137534085 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2988del (p.Gly997fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230384] |
Chr9:134801983 [GRCh38]
Chr9:137693829 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.1402G>A (p.Glu468Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230390]|not provided [RCV002473016]|not specified [RCV003488614] |
Chr9:134738486 [GRCh38]
Chr9:137630332 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.3037G>A (p.Glu1013Lys) |
single nucleotide variant |
COL5A1-related condition [RCV003418185]|Ehlers-Danlos syndrome, classic type, 1 [RCV002230824]|not provided [RCV003313072] |
Chr9:134802918 [GRCh38]
Chr9:137694764 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.3367-14_3367-12del |
microsatellite |
Ehlers-Danlos syndrome, classic type, 1 [RCV002063772]|not specified [RCV000481529] |
Chr9:134809166..134809168 [GRCh38]
Chr9:137701012..137701014 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5227_5235del (p.Thr1743_His1745del) |
deletion |
not provided [RCV000481607] |
Chr9:134835060..134835068 [GRCh38]
Chr9:137726906..137726914 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2983C>A (p.Pro995Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230960]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313259]|not provided [RCV000485789] |
Chr9:134801984 [GRCh38]
Chr9:137693830 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.5141_5143del (p.Ser1714del) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230825] |
Chr9:134834973..134834975 [GRCh38]
Chr9:137726819..137726821 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.2946C>T (p.Gly982=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230828]|Familial thoracic aortic aneurysm and aortic dissection [RCV002436432]|not provided [RCV001561989] |
Chr9:134798455 [GRCh38]
Chr9:137690301 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1210T>C (p.Phe404Leu) |
single nucleotide variant |
not provided [RCV000485959] |
Chr9:134731541 [GRCh38]
Chr9:137623387 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4172A>G (p.Lys1391Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230924]|not provided [RCV000486127] |
Chr9:134817075 [GRCh38]
Chr9:137708921 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.5271G>A (p.Thr1757=) |
single nucleotide variant |
COL5A1-related condition [RCV003970337]|Ehlers-Danlos syndrome, classic type, 1 [RCV002230852]|Familial thoracic aortic aneurysm and aortic dissection [RCV002350027]|not specified [RCV003488622] |
Chr9:134835105 [GRCh38]
Chr9:137726951 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.3082C>T (p.Leu1028Phe) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230829] |
Chr9:134802963 [GRCh38]
Chr9:137694809 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1352A>T (p.Glu451Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230821] |
Chr9:134732090 [GRCh38]
Chr9:137623936 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4433C>T (p.Pro1478Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230391]|Familial thoracic aortic aneurysm and aortic dissection [RCV002329052] |
Chr9:134819040 [GRCh38]
Chr9:137710886 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.5447T>C (p.Met1816Thr) |
single nucleotide variant |
not provided [RCV000482052] |
Chr9:134842233 [GRCh38]
Chr9:137734079 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1263C>T (p.Tyr421=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230857]|Familial thoracic aortic aneurysm and aortic dissection [RCV002446886]|not provided [RCV000513578] |
Chr9:134731594 [GRCh38]
Chr9:137623440 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2070A>G (p.Pro690=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230853] |
Chr9:134765716 [GRCh38]
Chr9:137657562 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3812C>G (p.Pro1271Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230388] |
Chr9:134812672 [GRCh38]
Chr9:137704518 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4863G>T (p.Glu1621Asp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230921]|not provided [RCV000482255] |
Chr9:134824764 [GRCh38]
Chr9:137716610 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4192G>T (p.Ala1398Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230837] |
Chr9:134817793 [GRCh38]
Chr9:137709639 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5504G>C (p.Cys1835Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230377] |
Chr9:134842290 [GRCh38]
Chr9:137734136 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|uncertain significance |
| NM_000093.5(COL5A1):c.228_229del (p.Arg76fs) |
microsatellite |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230820] |
Chr9:134691028..134691029 [GRCh38]
Chr9:137582874..137582875 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.3764G>A (p.Gly1255Asp) |
single nucleotide variant |
not provided [RCV000482455] |
Chr9:134812624 [GRCh38]
Chr9:137704470 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.610A>G (p.Ile204Val) |
single nucleotide variant |
COL5A1-related condition [RCV003899923]|Ehlers-Danlos syndrome, classic type, 1 [RCV002230375] |
Chr9:134701289 [GRCh38]
Chr9:137593135 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.420C>T (p.Tyr140=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002525672]|not specified [RCV000603503] |
Chr9:134700051 [GRCh38]
Chr9:137591897 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1119G>A (p.Gly373=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230679]|Familial thoracic aortic aneurysm and aortic dissection [RCV002436498] |
Chr9:134730430 [GRCh38]
Chr9:137622276 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2430+1G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230378]|not provided [RCV002461193] |
Chr9:134780147 [GRCh38]
Chr9:137671993 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic |
| NM_000093.5(COL5A1):c.4043G>C (p.Gly1348Ala) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230827] |
Chr9:134815604 [GRCh38]
Chr9:137707450 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2464A>G (p.Met822Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230836] |
Chr9:134782700 [GRCh38]
Chr9:137674546 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3185G>A (p.Arg1062Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230385]|Familial thoracic aortic aneurysm and aortic dissection [RCV002323719]|not provided [RCV001568759] |
Chr9:134805045 [GRCh38]
Chr9:137696891 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.3582+4A>C |
single nucleotide variant |
not provided [RCV000478727] |
Chr9:134811396 [GRCh38]
Chr9:137703242 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5514C>T (p.Gly1838=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230855] |
Chr9:134842300 [GRCh38]
Chr9:137734146 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4050C>A (p.Pro1350=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000462528]|Ehlers-Danlos syndrome, classic type, 1 [RCV002230392]|not provided [RCV000999275] |
Chr9:134815611 [GRCh38]
Chr9:137707457 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.1316A>T (p.Asp439Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230374] |
Chr9:134731647 [GRCh38]
Chr9:137623493 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.273C>A (p.Tyr91Ter) |
single nucleotide variant |
not provided [RCV000497763] |
Chr9:134691075 [GRCh38]
Chr9:137582921 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.802G>A (p.Gly268Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002527160]|Familial thoracic aortic aneurysm and aortic dissection [RCV002413368]|not provided [RCV000497996] |
Chr9:134728685 [GRCh38]
Chr9:137620531 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.1191G>T (p.Ala397=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001507160]|Familial thoracic aortic aneurysm and aortic dissection [RCV002341194]|Fibromuscular dysplasia, multifocal [RCV002270606]|not provided [RCV001722431]|not specified [RCV003323575] |
Chr9:134731522 [GRCh38]
Chr9:137623368 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000093.5(COL5A1):c.2708C>T (p.Pro903Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231631]|not provided [RCV000493488] |
Chr9:134795089 [GRCh38]
Chr9:137686935 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.4126dup (p.Ser1376fs) |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231629]|not provided [RCV000493810] |
Chr9:134817028..134817029 [GRCh38]
Chr9:137708874..137708875 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.170A>G (p.Lys57Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593973]|not provided [RCV000494043] |
Chr9:134690972 [GRCh38]
Chr9:137582818 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4697dup (p.Glu1571fs) |
duplication |
Ehlers-Danlos syndrome [RCV002279271]|Ehlers-Danlos syndrome, classic type, 1 [RCV002527112]|not provided [RCV000494192] |
Chr9:134823462..134823463 [GRCh38]
Chr9:137715308..137715309 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.4230+103T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000505883]|Ehlers-Danlos syndrome, classic type, 1 [RCV002270600]|Fibromuscular dysplasia, multifocal [RCV002270601]|not provided [RCV001672815] |
Chr9:134817934 [GRCh38]
Chr9:137709780 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1332+92C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000506159]|Ehlers-Danlos syndrome, classic type, 1 [RCV002270596]|Fibromuscular dysplasia, multifocal [RCV002270597]|not provided [RCV000831483] |
Chr9:134731755 [GRCh38]
Chr9:137623601 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2818G>A (p.Gly940Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231630]|not provided [RCV000494429] |
Chr9:134796392 [GRCh38]
Chr9:137688238 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.1307C>T (p.Ala436Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230995]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314884]|not provided [RCV001555875]|not specified [RCV000506749] |
Chr9:134731638 [GRCh38]
Chr9:137623484 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.5182dup (p.Met1728fs) |
duplication |
not provided [RCV000507055] |
Chr9:134835015..134835016 [GRCh38]
Chr9:137726862 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.1570-59T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000507117]|Ehlers-Danlos syndrome, classic type, 1 [RCV002270598]|Fibromuscular dysplasia, multifocal [RCV002270599]|not provided [RCV000833073] |
Chr9:134750731 [GRCh38]
Chr9:137642577 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4302C>T (p.Pro1434=) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002279284]|Ehlers-Danlos syndrome, classic type, 1 [RCV002230994]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314883]|not provided [RCV001697008]|not specified [RCV000507121] |
Chr9:134818727 [GRCh38]
Chr9:137710573 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4230+118C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000507173]|Ehlers-Danlos syndrome, classic type, 1 [RCV002270602]|Fibromuscular dysplasia, multifocal [RCV002270603]|not provided [RCV001712466] |
Chr9:134817949 [GRCh38]
Chr9:137709795 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1496G>C (p.Gly499Ala) |
single nucleotide variant |
not specified [RCV000507441] |
Chr9:134750543 [GRCh38]
Chr9:137642389 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.2700+38G>A |
single nucleotide variant |
not specified [RCV000507525] |
Chr9:134789246 [GRCh38]
Chr9:137681092 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2646+12C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002056903]|not specified [RCV000508004] |
Chr9:134786060 [GRCh38]
Chr9:137677906 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1827+11C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001857260]|not provided [RCV001508652]|not specified [RCV000508065] |
Chr9:134754337 [GRCh38]
Chr9:137646183 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.4177-107T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000508109]|Ehlers-Danlos syndrome, classic type, 1 [RCV002270604]|Fibromuscular dysplasia, multifocal [RCV002270605]|not provided [RCV001683533] |
Chr9:134817671 [GRCh38]
Chr9:137709517 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.925-44C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000508115] |
Chr9:134730192 [GRCh38]
Chr9:137622038 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2635C>A (p.Gln879Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003444561]|not specified [RCV000508210] |
Chr9:134786037 [GRCh38]
Chr9:137677883 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.2754G>A (p.Arg918=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231683]|not specified [RCV000610047] |
Chr9:134795270 [GRCh38]
Chr9:137687116 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.34G>A (p.Ala12Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231294]|Familial thoracic aortic aneurysm and aortic dissection [RCV002341285]|not provided [RCV001538248] |
Chr9:134642221 [GRCh38]
Chr9:137534067 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.1701A>C (p.Thr567=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234464]|not provided [RCV001613418] |
Chr9:134752627 [GRCh38]
Chr9:137644473 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.491+9G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234465] |
Chr9:134700131 [GRCh38]
Chr9:137591977 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2538G>A (p.Lys846=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234468]|Familial thoracic aortic aneurysm and aortic dissection [RCV003303001] |
Chr9:134785042 [GRCh38]
Chr9:137676888 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5349C>T (p.Arg1783=) |
single nucleotide variant |
COL5A1-related condition [RCV003928061]|Ehlers-Danlos syndrome, classic type, 1 [RCV002234470]|Familial thoracic aortic aneurysm and aortic dissection [RCV002343235]|not provided [RCV001562226] |
Chr9:134835183 [GRCh38]
Chr9:137727029 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3906+7G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234474] |
Chr9:134814043 [GRCh38]
Chr9:137705889 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NC_000009.12:g.(?_134842137)_(134842323_?)del |
deletion |
Ehlers-Danlos syndrome, classic type [RCV000634699] |
Chr9:134842137..134842323 [GRCh38]
Chr9:137733983..137734169 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NC_000009.12:g.(?_134752569)_(134752665_?)del |
deletion |
Ehlers-Danlos syndrome, classic type [RCV000634700]|Ehlers-Danlos syndrome, classic type, 1 [RCV001868171] |
Chr9:134752569..134752665 [GRCh38]
Chr9:137644415..137644511 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.2504G>C (p.Gly835Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV000600683] |
Chr9:134785008 [GRCh38]
Chr9:137676854 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.305T>C (p.Ile102Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV000624893]|not provided [RCV002263837] |
Chr9:134699936 [GRCh38]
Chr9:137591782 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.599A>C (p.Asp200Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002314266] |
Chr9:134701278 [GRCh38]
Chr9:137593124 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1556T>C (p.Met519Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001860395]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314244] |
Chr9:134750603 [GRCh38]
Chr9:137642449 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5348G>A (p.Arg1783His) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000576704]|Ehlers-Danlos syndrome, classic type, 1 [RCV002232468] |
Chr9:134835182 [GRCh38]
Chr9:137727028 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.2971G>A (p.Gly991Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001258202]|Familial thoracic aortic aneurysm and aortic dissection [RCV002438676] |
Chr9:134801972 [GRCh38]
Chr9:137693818 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2497C>T (p.Pro833Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234445]|not provided [RCV001756051] |
Chr9:134785001 [GRCh38]
Chr9:137676847 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.2812G>C (p.Gly938Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234448] |
Chr9:134796386 [GRCh38]
Chr9:137688232 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.3170G>A (p.Gly1057Asp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233970] |
Chr9:134805030 [GRCh38]
Chr9:137696876 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2451G>T (p.Gly817=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234471] |
Chr9:134782687 [GRCh38]
Chr9:137674533 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3852+9C>T |
single nucleotide variant |
Connective tissue disorder [RCV000680507]|Ehlers-Danlos syndrome, classic type, 1 [RCV002234473] |
Chr9:134812721 [GRCh38]
Chr9:137704567 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1719+8A>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233976] |
Chr9:134752653 [GRCh38]
Chr9:137644499 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3115-10C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233978]|not provided [RCV001653961] |
Chr9:134804965 [GRCh38]
Chr9:137696811 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.417C>T (p.Leu139=) |
single nucleotide variant |
COL5A1-related condition [RCV003935774]|Ehlers-Danlos syndrome, classic type, 1 [RCV002234476]|Familial thoracic aortic aneurysm and aortic dissection [RCV002331132] |
Chr9:134700048 [GRCh38]
Chr9:137591894 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3276A>G (p.Arg1092=) |
single nucleotide variant |
not specified [RCV000604686] |
Chr9:134806206 [GRCh38]
Chr9:137698052 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3595G>C (p.Glu1199Gln) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002314261]|not provided [RCV003886422] |
Chr9:134811504 [GRCh38]
Chr9:137703350 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2543G>A (p.Arg848His) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002232764]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314258]|not provided [RCV001811120] |
Chr9:134785047 [GRCh38]
Chr9:137676893 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.446C>T (p.Pro149Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000804672]|Ehlers-Danlos syndrome, classic type, 1 [RCV002233021]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314239] |
Chr9:134700077 [GRCh38]
Chr9:137591923 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.2751G>A (p.Pro917=) |
single nucleotide variant |
COL5A1-related condition [RCV003965284]|Ehlers-Danlos syndrome, classic type [RCV000634653]|Ehlers-Danlos syndrome, classic type, 1 [RCV001507180]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315939]|Fibromuscular dysplasia, multifocal [RCV002270858]|not specified [RCV000609485] |
Chr9:134795267 [GRCh38]
Chr9:137687113 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.773A>G (p.Asn258Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002314262] |
Chr9:134727384 [GRCh38]
Chr9:137619230 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2744C>T (p.Thr915Met) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234434] |
Chr9:134795125 [GRCh38]
Chr9:137686971 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1264G>C (p.Asp422His) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233964] |
Chr9:134731595 [GRCh38]
Chr9:137623441 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.1462C>T (p.Pro488Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000634611] |
Chr9:134738776 [GRCh38]
Chr9:137630622 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4297A>G (p.Lys1433Glu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234451] |
Chr9:134818722 [GRCh38]
Chr9:137710568 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.668A>G (p.Gln223Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234454] |
Chr9:134727279 [GRCh38]
Chr9:137619125 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4351C>A (p.Leu1451Ile) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234456] |
Chr9:134818860 [GRCh38]
Chr9:137710706 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4212G>C (p.Gln1404His) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234459] |
Chr9:134817813 [GRCh38]
Chr9:137709659 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.999C>T (p.Val333=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234461]|Familial thoracic aortic aneurysm and aortic dissection [RCV002386003] |
Chr9:134730310 [GRCh38]
Chr9:137622156 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.603C>T (p.Ile201=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234462]|Familial thoracic aortic aneurysm and aortic dissection [RCV003162831] |
Chr9:134701282 [GRCh38]
Chr9:137593128 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4698+9C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234463] |
Chr9:134823478 [GRCh38]
Chr9:137715324 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.460C>T (p.Leu154Phe) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231690] |
Chr9:134700091 [GRCh38]
Chr9:137591937 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.583G>A (p.Asp195Asn) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000576860]|Ehlers-Danlos syndrome, classic type, 1 [RCV002232675]|Familial thoracic aortic aneurysm and aortic dissection [RCV002358635] |
Chr9:134701262 [GRCh38]
Chr9:137593108 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.4699-3del |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002065370]|Fibromuscular dysplasia, multifocal [RCV002270808]|not specified [RCV000601474] |
Chr9:134824593 [GRCh38]
Chr9:137716439 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.1432-18C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002529561]|not specified [RCV000606994] |
Chr9:134738728 [GRCh38]
Chr9:137630574 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5165dup (p.Val1723fs) |
duplication |
Familial thoracic aortic aneurysm and aortic dissection [RCV002314260] |
Chr9:134834996..134834997 [GRCh38]
Chr9:137726842..137726843 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.753C>A (p.Thr251=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002232759]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314240] |
Chr9:134727364 [GRCh38]
Chr9:137619210 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4020A>G (p.Pro1340=) |
single nucleotide variant |
COL5A1-related condition [RCV003962792]|Ehlers-Danlos syndrome, classic type, 1 [RCV003594003]|Familial thoracic aortic aneurysm and aortic dissection [RCV003302948]|not provided [RCV000788533]|not specified [RCV000601788] |
Chr9:134815581 [GRCh38]
Chr9:137707427 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.3780C>T (p.Ser1260=) |
single nucleotide variant |
COL5A1-related condition [RCV003953098]|Ehlers-Danlos syndrome, classic type, 1 [RCV002233020]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314232]|not specified [RCV003330838] |
Chr9:134812640 [GRCh38]
Chr9:137704486 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.5370+13C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002063027]|not specified [RCV000607282] |
Chr9:134835217 [GRCh38]
Chr9:137727063 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5432C>T (p.Pro1811Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002232765]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314264]|not provided [RCV001756007] |
Chr9:134842218 [GRCh38]
Chr9:137734064 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.202T>C (p.Ser68Pro) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002314248] |
Chr9:134691004 [GRCh38]
Chr9:137582850 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2022G>C (p.Leu674=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002314229] |
Chr9:134763725 [GRCh38]
Chr9:137655571 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1021G>A (p.Val341Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002314254]|not provided [RCV003229847] |
Chr9:134730332 [GRCh38]
Chr9:137622178 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4803C>T (p.Tyr1601=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002232577]|Familial thoracic aortic aneurysm and aortic dissection [RCV002341556]|Fibromuscular dysplasia, multifocal [RCV002270744]|not specified [RCV000602104] |
Chr9:134824704 [GRCh38]
Chr9:137716550 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.4296G>A (p.Gly1432=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003301402] |
Chr9:134818721 [GRCh38]
Chr9:137710567 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2982C>T (p.Gly994=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003301403] |
Chr9:134801983 [GRCh38]
Chr9:137693829 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.608G>T (p.Gly203Val) |
single nucleotide variant |
Inguinal hernia [RCV000626600] |
Chr9:134701287 [GRCh38]
Chr9:137593133 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| 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_000093.5(COL5A1):c.3760C>T (p.Pro1254Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758892]|Hypertelorism [RCV000626597] |
Chr9:134812620 [GRCh38]
Chr9:137704466 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5314G>A (p.Glu1772Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758893]|Skeletal dysplasia [RCV000626599]|not provided [RCV001509381] |
Chr9:134835148 [GRCh38]
Chr9:137726994 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5150_5158del (p.Asp1717_Glu1719del) |
deletion |
Hyperextensible skin [RCV000626598] |
Chr9:134834982..134834990 [GRCh38]
Chr9:137726828..137726836 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.5461G>A (p.Gly1821Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234436]|not provided [RCV001566141] |
Chr9:134842247 [GRCh38]
Chr9:137734093 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1295C>T (p.Pro432Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233966]|Familial thoracic aortic aneurysm and aortic dissection [RCV002386002]|not provided [RCV001796149] |
Chr9:134731626 [GRCh38]
Chr9:137623472 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.1926G>T (p.Lys642Asn) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234458] |
Chr9:134758287 [GRCh38]
Chr9:137650133 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1899C>T (p.Asp633=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233971] |
Chr9:134758260 [GRCh38]
Chr9:137650106 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.36G>A (p.Ala12=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233977]|Familial thoracic aortic aneurysm and aortic dissection [RCV002343236] |
Chr9:134642223 [GRCh38]
Chr9:137534069 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NC_000009.12:g.(?_134727246)_(134728827_?)del |
deletion |
Ehlers-Danlos syndrome, classic type [RCV000634702]|Ehlers-Danlos syndrome, classic type, 1 [RCV001860497] |
Chr9:134727246..134728827 [GRCh38]
Chr9:137619092..137620673 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2897del (p.Pro966fs) |
deletion |
Ehlers-Danlos syndrome [RCV003330852]|Ehlers-Danlos syndrome, classic type, 1 [RCV002233961]|not provided [RCV001544703] |
Chr9:134796895 [GRCh38]
Chr9:137688741 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.266A>G (p.Gln89Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234453] |
Chr9:134691068 [GRCh38]
Chr9:137582914 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NC_000009.12:g.(?_134834951)_(134835224_?)del |
deletion |
Ehlers-Danlos syndrome, classic type [RCV000634701]|Ehlers-Danlos syndrome, classic type, 1 [RCV001860496] |
Chr9:134834951..134835224 [GRCh38]
Chr9:137726797..137727070 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.3529-5C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758882]|not specified [RCV000609501] |
Chr9:134811334 [GRCh38]
Chr9:137703180 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2415C>T (p.Gly805=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002232592]|not specified [RCV000609537] |
Chr9:134780131 [GRCh38]
Chr9:137671977 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.4447-19T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002063974]|not specified [RCV000615012] |
Chr9:134820097 [GRCh38]
Chr9:137711943 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.615C>A (p.Ile205=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002232750]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314173]|not provided [RCV001719144] |
Chr9:134701294 [GRCh38]
Chr9:137593140 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.9C>A (p.Val3=) |
single nucleotide variant |
not specified [RCV000612308] |
Chr9:134642196 [GRCh38]
Chr9:137534042 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4473C>T (p.Ile1491=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV000634693]|Fibromuscular dysplasia, multifocal [RCV002270859]|not provided [RCV001704792]|not specified [RCV003330829] |
Chr9:134820142 [GRCh38]
Chr9:137711988 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.3369C>T (p.Gly1123=) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002279404]|Ehlers-Danlos syndrome, classic type [RCV000800695]|Ehlers-Danlos syndrome, classic type, 1 [RCV002232586]|Familial thoracic aortic aneurysm and aortic dissection [RCV002456340]|not provided [RCV001697490] |
Chr9:134809185 [GRCh38]
Chr9:137701031 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.4812C>T (p.Tyr1604=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV000634692]|Familial thoracic aortic aneurysm and aortic dissection [RCV002341566]|Fibromuscular dysplasia, multifocal [RCV002270774]|not provided [RCV001697573]|not specified [RCV003323632] |
Chr9:134824713 [GRCh38]
Chr9:137716559 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.1368A>G (p.Gly456=) |
single nucleotide variant |
not specified [RCV000609804] |
Chr9:134732106 [GRCh38]
Chr9:137623952 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2332-9T>G |
single nucleotide variant |
not provided [RCV000930020]|not specified [RCV000615360] |
Chr9:134774850 [GRCh38]
Chr9:137666696 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1720-3T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002529623]|not specified [RCV000601564] |
Chr9:134753847 [GRCh38]
Chr9:137645693 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.1410G>C (p.Pro470=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002066950]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314185]|not provided [RCV000999269] |
Chr9:134738494 [GRCh38]
Chr9:137630340 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.-14C>T |
single nucleotide variant |
not specified [RCV000605818] |
Chr9:134642174 [GRCh38]
Chr9:137534020 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1304C>T (p.Pro435Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002232760]|Ehlers-Danlos syndrome, classic type, 1 [RCV002491326]|Ehlers-Danlos syndrome, classic type, 2 [RCV003483689]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314247]|not provided [RCV001573546] |
Chr9:134731635 [GRCh38]
Chr9:137623481 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000093.5(COL5A1):c.-28_-7del |
deletion |
not specified [RCV000609926] |
Chr9:134642153..134642174 [GRCh38]
Chr9:137533999..137534020 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4609-18G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002528597]|not specified [RCV000615500] |
Chr9:134822980 [GRCh38]
Chr9:137714826 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2746-12C>G |
single nucleotide variant |
not provided [RCV001712657] |
Chr9:134795250 [GRCh38]
Chr9:137687096 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5394G>A (p.Thr1798=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002528654]|Familial thoracic aortic aneurysm and aortic dissection [RCV002343147]|not provided [RCV001698485] |
Chr9:134842180 [GRCh38]
Chr9:137734026 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.1527C>T (p.Ala509=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002232724]|Familial thoracic aortic aneurysm and aortic dissection [RCV002395586]|not provided [RCV001718963] |
Chr9:134750574 [GRCh38]
Chr9:137642420 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1429G>A (p.Ala477Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002232753]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314187]|not provided [RCV000733968] |
Chr9:134738513 [GRCh38]
Chr9:137630359 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1900G>A (p.Gly634Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002232763]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314257] |
Chr9:134758261 [GRCh38]
Chr9:137650107 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1780C>T (p.Arg594Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233019]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314228]|not provided [RCV001269594] |
Chr9:134754279 [GRCh38]
Chr9:137646125 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.2034+18G>C |
single nucleotide variant |
Connective tissue disorder [RCV000680505]|Ehlers-Danlos syndrome, classic type, 1 [RCV002063089]|not specified [RCV000612874] |
Chr9:134763755 [GRCh38]
Chr9:137655601 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5205C>T (p.Ser1735=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233013]|Familial thoracic aortic aneurysm and aortic dissection [RCV002334027]|not provided [RCV000912083] |
Chr9:134835039 [GRCh38]
Chr9:137726885 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3983del (p.Pro1328fs) |
deletion |
Familial thoracic aortic aneurysm and aortic dissection [RCV002314242] |
Chr9:134814871 [GRCh38]
Chr9:137706717 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.4758C>T (p.Asn1586=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594008]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314243] |
Chr9:134824659 [GRCh38]
Chr9:137716505 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.67CTG[3] (p.Leu26_Leu28del) |
microsatellite |
Familial thoracic aortic aneurysm and aortic dissection [RCV002314235] |
Chr9:134642253..134642261 [GRCh38]
Chr9:137534099..137534107 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2092_2093delinsCA (p.Val698His) |
indel |
Ehlers-Danlos syndrome, classic type, 1 [RCV002232762]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314256] |
Chr9:134766457..134766458 [GRCh38]
Chr9:137658303..137658304 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3294T>C (p.Ala1098=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002232733]|Familial thoracic aortic aneurysm and aortic dissection [RCV002456374]|not specified [RCV000613145] |
Chr9:134806224 [GRCh38]
Chr9:137698070 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1936-16C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002528538]|not provided [RCV001579738]|not specified [RCV000616219] |
Chr9:134761909 [GRCh38]
Chr9:137653755 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3007-18C>G |
single nucleotide variant |
not specified [RCV000616370] |
Chr9:134802870 [GRCh38]
Chr9:137694716 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2542C>T (p.Arg848Cys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594006]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314237]|not provided [RCV003156265] |
Chr9:134785046 [GRCh38]
Chr9:137676892 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.1105G>C (p.Asp369His) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002314245] |
Chr9:134730416 [GRCh38]
Chr9:137622262 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1165-8C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002232595]|not provided [RCV001697868] |
Chr9:134731488 [GRCh38]
Chr9:137623334 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2433T>C (p.Gly811=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758880]|not specified [RCV000610480] |
Chr9:134782669 [GRCh38]
Chr9:137674515 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity |
| NM_000093.5(COL5A1):c.2526T>C (p.Pro842=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003767557]|not provided [RCV001697859] |
Chr9:134785030 [GRCh38]
Chr9:137676876 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5137-20C>T |
single nucleotide variant |
not specified [RCV000602428] |
Chr9:134834951 [GRCh38]
Chr9:137726797 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1431+11G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002063932]|not specified [RCV000613477] |
Chr9:134738526 [GRCh38]
Chr9:137630372 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.534C>T (p.Thr178=) |
single nucleotide variant |
not specified [RCV000616604] |
Chr9:134701213 [GRCh38]
Chr9:137593059 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5100G>T (p.Pro1700=) |
single nucleotide variant |
not specified [RCV000608167] |
Chr9:134830008 [GRCh38]
Chr9:137721854 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.-4C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV001169656]|Ehlers-Danlos syndrome, classic type, 1 [RCV002270727]|Familial thoracic aortic aneurysm and aortic dissection [RCV002341543]|Fibromuscular dysplasia, multifocal [RCV002270728]|not provided [RCV001704726] |
Chr9:134642184 [GRCh38]
Chr9:137534030 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.42C>T (p.Arg14=) |
single nucleotide variant |
not specified [RCV000610801] |
Chr9:134642229 [GRCh38]
Chr9:137534075 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4644+16C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002528598]|not specified [RCV000610882] |
Chr9:134823049 [GRCh38]
Chr9:137714895 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3303C>A (p.Ile1101=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002232741]|not provided [RCV003884666]|not specified [RCV000614007] |
Chr9:134806233 [GRCh38]
Chr9:137698079 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.2485-18C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002529465]|not specified [RCV000614037] |
Chr9:134784971 [GRCh38]
Chr9:137676817 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.210C>T (p.Gly70=) |
single nucleotide variant |
not specified [RCV000608647] |
Chr9:134691012 [GRCh38]
Chr9:137582858 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4039C>T (p.Pro1347Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234444] |
Chr9:134815600 [GRCh38]
Chr9:137707446 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2269G>A (p.Gly757Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233967]|Familial thoracic aortic aneurysm and aortic dissection [RCV002448959]|not provided [RCV002223893] |
Chr9:134768446 [GRCh38]
Chr9:137660292 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4275C>G (p.Ile1425Met) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234446] |
Chr9:134818700 [GRCh38]
Chr9:137710546 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3233G>A (p.Gly1078Glu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234457] |
Chr9:134805189 [GRCh38]
Chr9:137697035 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1668A>G (p.Ala556=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233973]|Familial thoracic aortic aneurysm and aortic dissection [RCV002404764] |
Chr9:134752594 [GRCh38]
Chr9:137644440 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4836C>T (p.Phe1612=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233975]|Familial thoracic aortic aneurysm and aortic dissection [RCV002331131] |
Chr9:134824737 [GRCh38]
Chr9:137716583 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5298C>T (p.Phe1766=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234475] |
Chr9:134835132 [GRCh38]
Chr9:137726978 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.186C>T (p.Cys62=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233979]|Familial thoracic aortic aneurysm and aortic dissection [RCV003162832] |
Chr9:134690988 [GRCh38]
Chr9:137582834 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1818C>T (p.Pro606=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002232739]|Familial thoracic aortic aneurysm and aortic dissection [RCV002413750]|not provided [RCV001719044]|not specified [RCV003323635] |
Chr9:134754317 [GRCh38]
Chr9:137646163 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5370+18C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002531702]|not specified [RCV000609007] |
Chr9:134835222 [GRCh38]
Chr9:137727068 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1044G>A (p.Thr348=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002064071]|not specified [RCV000609079] |
Chr9:134730355 [GRCh38]
Chr9:137622201 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1936-10C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002232751]|not specified [RCV000609096] |
Chr9:134761915 [GRCh38]
Chr9:137653761 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3171T>C (p.Gly1057=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002066887]|not specified [RCV000609206] |
Chr9:134805031 [GRCh38]
Chr9:137696877 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.597C>T (p.Ile199=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002062979]|Familial thoracic aortic aneurysm and aortic dissection [RCV002358679]|not provided [RCV001722610] |
Chr9:134701276 [GRCh38]
Chr9:137593122 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4068+17G>A |
single nucleotide variant |
not specified [RCV000611953] |
Chr9:134815646 [GRCh38]
Chr9:137707492 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.-17G>A |
single nucleotide variant |
not specified [RCV000614795] |
Chr9:134642171 [GRCh38]
Chr9:137534017 [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_000093.5(COL5A1):c.5436C>T (p.Ile1812=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002232755]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314225]|not provided [RCV000841697] |
Chr9:134842222 [GRCh38]
Chr9:137734068 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4197C>T (p.Gly1399=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002232734]|not specified [RCV000604846] |
Chr9:134817798 [GRCh38]
Chr9:137709644 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.5310C>T (p.Asn1770=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002232578]|Familial thoracic aortic aneurysm and aortic dissection [RCV002350457]|not provided [RCV001722620] |
Chr9:134835144 [GRCh38]
Chr9:137726990 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.655-1G>C |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002314230]|not provided [RCV001508648] |
Chr9:134727265 [GRCh38]
Chr9:137619111 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.3711C>T (p.Gly1237=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233023]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314252] |
Chr9:134812469 [GRCh38]
Chr9:137704315 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.4698+20C>T |
single nucleotide variant |
not specified [RCV000603687] |
Chr9:134823489 [GRCh38]
Chr9:137715335 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1224G>A (p.Thr408=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002232721]|Familial thoracic aortic aneurysm and aortic dissection [RCV002368066]|not provided [RCV000634684] |
Chr9:134731555 [GRCh38]
Chr9:137623401 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3726_3732del (p.Gly1243fs) |
deletion |
not provided [RCV000522876] |
Chr9:134812479..134812485 [GRCh38]
Chr9:137704325..137704331 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.1183G>T (p.Glu395Ter) |
single nucleotide variant |
not provided [RCV000579092] |
Chr9:134731514 [GRCh38]
Chr9:137623360 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.2701-14T>C |
single nucleotide variant |
not specified [RCV000603838] |
Chr9:134795068 [GRCh38]
Chr9:137686914 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.936G>A (p.Pro312=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002531815]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314253] |
Chr9:134730247 [GRCh38]
Chr9:137622093 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.2842C>T (p.Arg948Trp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594009]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314250] |
Chr9:134796416 [GRCh38]
Chr9:137688262 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4014+7A>G |
single nucleotide variant |
not specified [RCV000605865] |
Chr9:134814911 [GRCh38]
Chr9:137706757 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2391C>T (p.Ala797=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002232574]|Familial thoracic aortic aneurysm and aortic dissection [RCV002456328]|not provided [RCV001722599] |
Chr9:134780107 [GRCh38]
Chr9:137671953 [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_000093.5(COL5A1):c.3441C>A (p.Gly1147=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002062988]|not specified [RCV000600734] |
Chr9:134809257 [GRCh38]
Chr9:137701103 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.292G>T (p.Glu98Ter) |
single nucleotide variant |
not provided [RCV000627318] |
Chr9:134699923 [GRCh38]
Chr9:137591769 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.5317del (p.Glu1773fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234432] |
Chr9:134835150 [GRCh38]
Chr9:137726996 [GRCh37]
Chr9:9q34.3 |
pathogenic|uncertain significance |
| NM_000093.5(COL5A1):c.1280C>T (p.Pro427Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002279456]|Ehlers-Danlos syndrome, classic type [RCV000634591]|Ehlers-Danlos syndrome, classic type, 1 [RCV002233963]|not provided [RCV001766354] |
Chr9:134731611 [GRCh38]
Chr9:137623457 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.1389+7A>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234438] |
Chr9:134732134 [GRCh38]
Chr9:137623980 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.1175C>T (p.Pro392Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234440]|Familial thoracic aortic aneurysm and aortic dissection [RCV002331130] |
Chr9:134731506 [GRCh38]
Chr9:137623352 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.4911C>T (p.Arg1637=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234441] |
Chr9:134824812 [GRCh38]
Chr9:137716658 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.3733G>A (p.Val1245Met) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233965] |
Chr9:134812491 [GRCh38]
Chr9:137704337 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.2312C>G (p.Pro771Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234447] |
Chr9:134772815 [GRCh38]
Chr9:137664661 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.983G>A (p.Gly328Glu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234455]|not provided [RCV001756052] |
Chr9:134730294 [GRCh38]
Chr9:137622140 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.723C>T (p.Ser241=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233972] |
Chr9:134727334 [GRCh38]
Chr9:137619180 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4719C>T (p.Ile1573=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234467] |
Chr9:134824620 [GRCh38]
Chr9:137716466 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5371-8T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV001280963]|Ehlers-Danlos syndrome, classic type, 1 [RCV002060726]|Ehlers-Danlos syndrome, classic type, 1 [RCV003224356]|not specified [RCV003403456] |
Chr9:134842149 [GRCh38]
Chr9:137733995 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.945G>A (p.Thr315=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234477]|Familial thoracic aortic aneurysm and aortic dissection [RCV002448960]|not provided [RCV000634698] |
Chr9:134730256 [GRCh38]
Chr9:137622102 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4351C>G (p.Leu1451Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003767793]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314238] |
Chr9:134818860 [GRCh38]
Chr9:137710706 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.3421G>C (p.Gly1141Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233672] |
Chr9:134809237 [GRCh38]
Chr9:137701083 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1052C>A (p.Pro351Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233656]|not provided [RCV003324788] |
Chr9:134730363 [GRCh38]
Chr9:137622209 [GRCh37]
Chr9:9q34.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.4555-8C>G |
single nucleotide variant |
not provided [RCV000659132] |
Chr9:134822089 [GRCh38]
Chr9:137713935 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1719+10T>C |
single nucleotide variant |
Connective tissue disorder [RCV000659444] |
Chr9:134752655 [GRCh38]
Chr9:137644501 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2434G>A (p.Glu812Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235524]|not provided [RCV000659131] |
Chr9:134782670 [GRCh38]
Chr9:137674516 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2484+1G>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233121] |
Chr9:134782721 [GRCh38]
Chr9:137674567 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.2155C>T (p.Pro719Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001537853] |
Chr9:134767021 [GRCh38]
Chr9:137658867 [GRCh37]
Chr9:9q34.3 |
uncertain significance|not provided |
| GRCh37/hg19 9q34.3(chr9:137641609-138199640)x3 |
copy number gain |
not provided [RCV000683131] |
Chr9:137641609..138199640 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4446+14C>T |
single nucleotide variant |
Connective tissue disorder [RCV000680510]|Ehlers-Danlos syndrome, classic type, 1 [RCV002544698] |
Chr9:134819067 [GRCh38]
Chr9:137710913 [GRCh37]
Chr9:9q34.3 |
likely benign |
| 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 |
| GRCh37/hg19 9q34.3(chr9:137736478-138563159)x3 |
copy number gain |
not provided [RCV000683146] |
Chr9:137736478..138563159 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1239C>G (p.Asp413Glu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002232909] |
Chr9:134731570 [GRCh38]
Chr9:137623416 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5033C>G (p.Ser1678Trp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233354] |
Chr9:134825870 [GRCh38]
Chr9:137717716 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.1114G>A (p.Ala372Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002232858] |
Chr9:134730425 [GRCh38]
Chr9:137622271 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.2565del (p.Gly856fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233370] |
Chr9:134785066 [GRCh38]
Chr9:137676912 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.2931C>A (p.His977Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233377] |
Chr9:134798440 [GRCh38]
Chr9:137690286 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3684del (p.Leu1229fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002232877] |
Chr9:134811590 [GRCh38]
Chr9:137703436 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.5498dup (p.Ala1834fs) |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233174] |
Chr9:134842282..134842283 [GRCh38]
Chr9:137734128..137734129 [GRCh37]
Chr9:9q34.3 |
pathogenic|uncertain significance |
| NM_000093.5(COL5A1):c.4339-3C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233334] |
Chr9:134818845 [GRCh38]
Chr9:137710691 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1075G>A (p.Glu359Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002232843]|Familial thoracic aortic aneurysm and aortic dissection [RCV002422471] |
Chr9:134730386 [GRCh38]
Chr9:137622232 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.4238C>A (p.Ala1413Asp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002232844] |
Chr9:134818663 [GRCh38]
Chr9:137710509 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3130G>A (p.Ala1044Thr) |
single nucleotide variant |
COL5A1-related condition [RCV003965437]|Ehlers-Danlos syndrome, classic type, 1 [RCV002233128]|Familial thoracic aortic aneurysm and aortic dissection [RCV002325355]|not provided [RCV001537479] |
Chr9:134804990 [GRCh38]
Chr9:137696836 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.655-1917_690del |
deletion |
Ehlers-Danlos syndrome, classic type [RCV000701030] |
Chr9:134725349..134727301 [GRCh38]
Chr9:137617195..137619147 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.935C>T (p.Pro312Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233549] |
Chr9:134730246 [GRCh38]
Chr9:137622092 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.3864C>T (p.Gly1288=) |
single nucleotide variant |
COL5A1-related condition [RCV003953234]|Ehlers-Danlos syndrome [RCV002279485]|Ehlers-Danlos syndrome, classic type, 1 [RCV002233151]|Familial thoracic aortic aneurysm and aortic dissection [RCV002360722] |
Chr9:134813994 [GRCh38]
Chr9:137705840 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.4693C>T (p.Pro1565Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233203] |
Chr9:134823464 [GRCh38]
Chr9:137715310 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.4954+4A>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233411] |
Chr9:134824859 [GRCh38]
Chr9:137716705 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5159G>T (p.Gly1720Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233706] |
Chr9:134834993 [GRCh38]
Chr9:137726839 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1364del (p.Lys455fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002232972]|not provided [RCV001268536] |
Chr9:134732099 [GRCh38]
Chr9:137623945 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.484G>C (p.Asp162His) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233718] |
Chr9:134700115 [GRCh38]
Chr9:137591961 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4573G>A (p.Gly1525Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233722] |
Chr9:134822115 [GRCh38]
Chr9:137713961 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2222C>T (p.Pro741Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233228] |
Chr9:134767344 [GRCh38]
Chr9:137659190 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NC_000009.12:g.(?_134699889)_(134700142_?)del |
deletion |
Ehlers-Danlos syndrome, classic type [RCV000708081]|Ehlers-Danlos syndrome, classic type, 1 [RCV001861927] |
Chr9:134699889..134700142 [GRCh38]
Chr9:137591735..137591988 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.2386-3C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002232824] |
Chr9:134780099 [GRCh38]
Chr9:137671945 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000093.5(COL5A1):c.3235C>T (p.Pro1079Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234111]|not provided [RCV002464293] |
Chr9:134805191 [GRCh38]
Chr9:137697037 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.3309_3325dup (p.Pro1109fs) |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV002232885] |
Chr9:134806238..134806239 [GRCh38]
Chr9:137698084..137698085 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.2518G>C (p.Asp840His) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233684] |
Chr9:134785022 [GRCh38]
Chr9:137676868 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4333C>T (p.Pro1445Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233187]|not provided [RCV001569218] |
Chr9:134818758 [GRCh38]
Chr9:137710604 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.692G>A (p.Arg231Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002232839] |
Chr9:134727303 [GRCh38]
Chr9:137619149 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.4(COL5A1):c.2389delG |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002232889] |
Chr9:134780101 [GRCh38]
Chr9:137671947 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NC_000009.12:g.(?_134690892)_(134691099_?)del |
deletion |
Ehlers-Danlos syndrome, classic type [RCV000708507]|Ehlers-Danlos syndrome, classic type, 1 [RCV001861930] |
Chr9:134690892..134691099 [GRCh38]
Chr9:137582738..137582945 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4909del (p.Arg1637fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234099] |
Chr9:134824808 [GRCh38]
Chr9:137716654 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.35C>A (p.Ala12Glu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233634] |
Chr9:134642222 [GRCh38]
Chr9:137534068 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3656G>C (p.Gly1219Ala) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002232860] |
Chr9:134811565 [GRCh38]
Chr9:137703411 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2164C>T (p.Gln722Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233408] |
Chr9:134767030 [GRCh38]
Chr9:137658876 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.1384G>C (p.Glu462Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233410] |
Chr9:134732122 [GRCh38]
Chr9:137623968 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4069-1G>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233603] |
Chr9:134815934 [GRCh38]
Chr9:137707780 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.4(COL5A1):c.3746delG |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233285] |
Chr9:134812604 [GRCh38]
Chr9:137704450 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.1720-136_1929del |
deletion |
Ehlers-Danlos syndrome, classic type [RCV000695363] |
Chr9:134753714..134758290 [GRCh38]
Chr9:137645560..137650136 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.2321A>C (p.Lys774Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233296] |
Chr9:134772824 [GRCh38]
Chr9:137664670 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4554+1G>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233612] |
Chr9:134820224 [GRCh38]
Chr9:137712070 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.3086C>T (p.Pro1029Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233613]|not provided [RCV001775965] |
Chr9:134802967 [GRCh38]
Chr9:137694813 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.343T>A (p.Phe115Ile) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233307] |
Chr9:134699974 [GRCh38]
Chr9:137591820 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.67CTG[5] (p.Leu28del) |
microsatellite |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233219]|not provided [RCV001569389]|not specified [RCV001579986] |
Chr9:134642253..134642255 [GRCh38]
Chr9:137534099..137534101 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.126_128del (p.Leu43del) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233646] |
Chr9:134690926..134690928 [GRCh38]
Chr9:137582772..137582774 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3491C>T (p.Pro1164Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000694264]|Ehlers-Danlos syndrome, classic type, 1 [RCV002233579]|Familial thoracic aortic aneurysm and aortic dissection [RCV002458248]|not provided [RCV001556833] |
Chr9:134810271 [GRCh38]
Chr9:137702117 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.2902C>G (p.Pro968Ala) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002232953] |
Chr9:134798411 [GRCh38]
Chr9:137690257 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1209G>T (p.Glu403Asp) |
single nucleotide variant |
Brugada syndrome [RCV000714910] |
Chr9:134731540 [GRCh38]
Chr9:137623386 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1720-208G>A |
single nucleotide variant |
not provided [RCV001548006] |
Chr9:134753642 [GRCh38]
Chr9:137645488 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4880G>A (p.Arg1627Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235001] |
Chr9:134824781 [GRCh38]
Chr9:137716627 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.4446+209C>T |
single nucleotide variant |
not provided [RCV001574352] |
Chr9:134819262 [GRCh38]
Chr9:137711108 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3852+48GT[10] |
microsatellite |
not provided [RCV001565540] |
Chr9:134812759..134812760 [GRCh38]
Chr9:137704605..137704606 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1663-158del |
deletion |
not provided [RCV001537410] |
Chr9:134752420 [GRCh38]
Chr9:137644266 [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(chr9:137648314-137664433)x1 |
copy number loss |
not provided [RCV000748785] |
Chr9:137648314..137664433 [GRCh37]
Chr9:9q34.3 |
benign |
| GRCh37/hg19 9q34.3(chr9:137721555-137730384)x1 |
copy number loss |
not provided [RCV000748786] |
Chr9:137721555..137730384 [GRCh37]
Chr9:9q34.3 |
benign |
| 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_000093.5(COL5A1):c.5067+47G>A |
single nucleotide variant |
not provided [RCV001581812] |
Chr9:134825951 [GRCh38]
Chr9:137717797 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4699-140C>T |
single nucleotide variant |
not provided [RCV001690971] |
Chr9:134824460 [GRCh38]
Chr9:137716306 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1224G>T (p.Thr408=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235717] |
Chr9:134731555 [GRCh38]
Chr9:137623401 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1936-108G>A |
single nucleotide variant |
not provided [RCV001665947] |
Chr9:134761817 [GRCh38]
Chr9:137653663 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1936-21G>C |
single nucleotide variant |
not provided [RCV001583300] |
Chr9:134761904 [GRCh38]
Chr9:137653750 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1990-12T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001882677]|not provided [RCV001571253] |
Chr9:134763681 [GRCh38]
Chr9:137655527 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4230+52C>T |
single nucleotide variant |
not provided [RCV001544641] |
Chr9:134817883 [GRCh38]
Chr9:137709729 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3952G>A (p.Gly1318Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001866252]|not provided [RCV001597475] |
Chr9:134814842 [GRCh38]
Chr9:137706688 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4955-137C>T |
single nucleotide variant |
not provided [RCV001572406] |
Chr9:134825655 [GRCh38]
Chr9:137717501 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.655-219GGAT[9] |
microsatellite |
not provided [RCV001534570] |
Chr9:134727046..134727047 [GRCh38]
Chr9:137618892..137618893 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4176+162C>A |
single nucleotide variant |
not provided [RCV001681610] |
Chr9:134817241 [GRCh38]
Chr9:137709087 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1971G>A (p.Pro657=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594136]|not provided [RCV001535324] |
Chr9:134761960 [GRCh38]
Chr9:137653806 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3007-216G>A |
single nucleotide variant |
not provided [RCV001708349] |
Chr9:134802672 [GRCh38]
Chr9:137694518 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2133+236G>A |
single nucleotide variant |
not provided [RCV001669008] |
Chr9:134766734 [GRCh38]
Chr9:137658580 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.-180C>A |
single nucleotide variant |
not provided [RCV001566181] |
Chr9:134642008 [GRCh38]
Chr9:137533854 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1333-8A>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235733] |
Chr9:134732063 [GRCh38]
Chr9:137623909 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.277+70G>A |
single nucleotide variant |
not provided [RCV001567394] |
Chr9:134691149 [GRCh38]
Chr9:137582995 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4954+242C>G |
single nucleotide variant |
not provided [RCV001583890] |
Chr9:134825097 [GRCh38]
Chr9:137716943 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5031dup (p.Ser1678fs) |
duplication |
not provided [RCV001547410] |
Chr9:134825862..134825863 [GRCh38]
Chr9:137717708..137717709 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.5458_5459del (p.Phe1820fs) |
deletion |
not provided [RCV000755971] |
Chr9:134842244..134842245 [GRCh38]
Chr9:137734090..137734091 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.4338+1G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000760147] |
Chr9:134818764 [GRCh38]
Chr9:137710610 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.16C>G (p.Arg6Gly) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240158] |
Chr9:134642203 [GRCh38]
Chr9:137534049 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.691C>T (p.Arg231Trp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234126]|not provided [RCV000762587] |
Chr9:134727302 [GRCh38]
Chr9:137619148 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.2765G>T (p.Gly922Val) |
single nucleotide variant |
not provided [RCV000762589] |
Chr9:134795281 [GRCh38]
Chr9:137687127 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.683C>T (p.Ser228Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233763]|not provided [RCV000762586] |
Chr9:134727294 [GRCh38]
Chr9:137619140 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.1882-56G>A |
single nucleotide variant |
not provided [RCV001707342] |
Chr9:134758187 [GRCh38]
Chr9:137650033 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4339-22G>T |
single nucleotide variant |
not provided [RCV001586636] |
Chr9:134818826 [GRCh38]
Chr9:137710672 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.492-274C>T |
single nucleotide variant |
not provided [RCV001571636] |
Chr9:134700897 [GRCh38]
Chr9:137592743 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5136+122G>A |
single nucleotide variant |
not provided [RCV003314840] |
Chr9:134830166 [GRCh38]
Chr9:137722012 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2286+178A>C |
single nucleotide variant |
not provided [RCV001569678] |
Chr9:134768641 [GRCh38]
Chr9:137660487 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5414C>G (p.Pro1805Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002032561]|not provided [RCV001546448] |
Chr9:134842200 [GRCh38]
Chr9:137734046 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.243G>A (p.Ala81=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002568456]|not provided [RCV001570095] |
Chr9:134691045 [GRCh38]
Chr9:137582891 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.3852+62_3852+63del |
deletion |
not provided [RCV001581258] |
Chr9:134812773..134812774 [GRCh38]
Chr9:137704619..137704620 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2233-99G>A |
single nucleotide variant |
not provided [RCV001566229] |
Chr9:134768311 [GRCh38]
Chr9:137660157 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5194C>T (p.Arg1732Trp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240305]|not provided [RCV001509380] |
Chr9:134835028 [GRCh38]
Chr9:137726874 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.4650A>T (p.Pro1550=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233747]|not provided [RCV000755966] |
Chr9:134823421 [GRCh38]
Chr9:137715267 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1093G>A (p.Asp365Asn) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240541] |
Chr9:134730404 [GRCh38]
Chr9:137622250 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2485-34_2485-33insGGGGCA |
insertion |
not provided [RCV001612245] |
Chr9:134784955..134784956 [GRCh38]
Chr9:137676801..137676802 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1157C>T (p.Ser386Phe) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV003483773]|Ehlers-Danlos syndrome, classic type, 1 [RCV002240545] |
Chr9:134730468 [GRCh38]
Chr9:137622314 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance|not provided |
| NM_000093.5(COL5A1):c.3852+205del |
deletion |
not provided [RCV001645074] |
Chr9:134812915 [GRCh38]
Chr9:137704761 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2134-225C>T |
single nucleotide variant |
not provided [RCV001666251] |
Chr9:134766775 [GRCh38]
Chr9:137658621 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.277+57A>G |
single nucleotide variant |
not provided [RCV001666756] |
Chr9:134691136 [GRCh38]
Chr9:137582982 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4069-6C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235960] |
Chr9:134815929 [GRCh38]
Chr9:137707775 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3648T>C (p.Gly1216=) |
single nucleotide variant |
not provided [RCV000982431] |
Chr9:134811557 [GRCh38]
Chr9:137703403 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1428C>G (p.Pro476=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002390932]|not provided [RCV000925674] |
Chr9:134738512 [GRCh38]
Chr9:137630358 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.762G>A (p.Ser254=) |
single nucleotide variant |
not provided [RCV000945120] |
Chr9:134727373 [GRCh38]
Chr9:137619219 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2845-8G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235176]|not provided [RCV000868433]|not specified [RCV003330978] |
Chr9:134796840 [GRCh38]
Chr9:137688686 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.1569+10dup |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235482] |
Chr9:134750623..134750624 [GRCh38]
Chr9:137642469..137642470 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3975C>T (p.Pro1325=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235178] |
Chr9:134814865 [GRCh38]
Chr9:137706711 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4785C>T (p.Asp1595=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235168]|Familial thoracic aortic aneurysm and aortic dissection [RCV003169132]|not provided [RCV000866805] |
Chr9:134824686 [GRCh38]
Chr9:137716532 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.57G>A (p.Leu19=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235147]|Ehlers-Danlos syndrome, classic type, 2 [RCV001196361]|Familial thoracic aortic aneurysm and aortic dissection [RCV003169101]|not provided [RCV001811515] |
Chr9:134642244 [GRCh38]
Chr9:137534090 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.2988C>T (p.Pro996=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235487]|Familial thoracic aortic aneurysm and aortic dissection [RCV003169166] |
Chr9:134801989 [GRCh38]
Chr9:137693835 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4518T>C (p.Pro1506=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002336809]|not provided [RCV000869451] |
Chr9:134820187 [GRCh38]
Chr9:137712033 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1390-6C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235890] |
Chr9:134738468 [GRCh38]
Chr9:137630314 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4231-10C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235614] |
Chr9:134818646 [GRCh38]
Chr9:137710492 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4020A>C (p.Pro1340=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235483] |
Chr9:134815581 [GRCh38]
Chr9:137707427 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5451C>T (p.Phe1817=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235713] |
Chr9:134842237 [GRCh38]
Chr9:137734083 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.129G>A (p.Leu43=) |
single nucleotide variant |
not provided [RCV000882212] |
Chr9:134690931 [GRCh38]
Chr9:137582777 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3691-6T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002536267] |
Chr9:134812443 [GRCh38]
Chr9:137704289 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1570-10A>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235183] |
Chr9:134750780 [GRCh38]
Chr9:137642626 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4239C>T (p.Ala1413=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235184]|Familial thoracic aortic aneurysm and aortic dissection [RCV003169171]|not provided [RCV003432825] |
Chr9:134818664 [GRCh38]
Chr9:137710510 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4617T>C (p.Pro1539=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235715] |
Chr9:134823006 [GRCh38]
Chr9:137714852 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1074C>T (p.Gly358=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000865213]|Ehlers-Danlos syndrome, classic type, 1 [RCV002235156]|not provided [RCV001508650] |
Chr9:134730385 [GRCh38]
Chr9:137622231 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.447G>A (p.Pro149=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235767]|Familial thoracic aortic aneurysm and aortic dissection [RCV002327181] |
Chr9:134700078 [GRCh38]
Chr9:137591924 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2601C>T (p.Leu867=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235763]|Familial thoracic aortic aneurysm and aortic dissection [RCV002427375] |
Chr9:134786003 [GRCh38]
Chr9:137677849 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2463C>T (p.Asp821=) |
single nucleotide variant |
not provided [RCV000905322] |
Chr9:134782699 [GRCh38]
Chr9:137674545 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.774T>C (p.Asn258=) |
single nucleotide variant |
COL5A1-related condition [RCV003936163]|Ehlers-Danlos syndrome, classic type [RCV000973204]|Ehlers-Danlos syndrome, classic type, 1 [RCV002235857]|Familial thoracic aortic aneurysm and aortic dissection [RCV002409285]|not provided [RCV003145242]|not specified [RCV003396565] |
Chr9:134727385 [GRCh38]
Chr9:137619231 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.1239C>T (p.Asp413=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235937]|not provided [RCV001585849] |
Chr9:134731570 [GRCh38]
Chr9:137623416 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.582C>T (p.Ser194=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002236032] |
Chr9:134701261 [GRCh38]
Chr9:137593107 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1587C>T (p.Gly529=) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002279577]|Ehlers-Danlos syndrome, classic type, 1 [RCV002235173]|not provided [RCV001579618] |
Chr9:134750807 [GRCh38]
Chr9:137642653 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.2952+9C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002236040] |
Chr9:134798470 [GRCh38]
Chr9:137690316 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.780T>C (p.Asp260=) |
single nucleotide variant |
COL5A1-related condition [RCV003958207]|Ehlers-Danlos syndrome, classic type, 1 [RCV002542079] |
Chr9:134727391 [GRCh38]
Chr9:137619237 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1889G>A (p.Arg630Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000868342]|Ehlers-Danlos syndrome, classic type, 1 [RCV002235174]|Familial thoracic aortic aneurysm and aortic dissection [RCV002409064]|not provided [RCV002269325] |
Chr9:134758250 [GRCh38]
Chr9:137650096 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.1930C>T (p.His644Tyr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002237121] |
Chr9:134758291 [GRCh38]
Chr9:137650137 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3166C>T (p.Arg1056Cys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240479] |
Chr9:134805026 [GRCh38]
Chr9:137696872 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2677G>A (p.Ala893Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002237103]|not provided [RCV001585933] |
Chr9:134789185 [GRCh38]
Chr9:137681031 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NC_000009.12:g.134641590C>T |
single nucleotide variant |
not provided [RCV001571113] |
Chr9:134641590 [GRCh38]
Chr9:137533436 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4628del (p.Gly1543fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240218] |
Chr9:134823016 [GRCh38]
Chr9:137714862 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.5255G>C (p.Trp1752Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002276595]|Ehlers-Danlos syndrome, classic type, 1 [RCV002551483]|not provided [RCV001759740] |
Chr9:134835089 [GRCh38]
Chr9:137726935 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.4942G>A (p.Asp1648Asn) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240405]|not provided [RCV001759822] |
Chr9:134824843 [GRCh38]
Chr9:137716689 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.5126G>A (p.Arg1709His) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240566] |
Chr9:134830034 [GRCh38]
Chr9:137721880 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.2159del (p.Pro720fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240491] |
Chr9:134767020 [GRCh38]
Chr9:137658866 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.3297del (p.Ile1101fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240365] |
Chr9:134806225 [GRCh38]
Chr9:137698071 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.5128G>C (p.Gly1710Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240367] |
Chr9:134830036 [GRCh38]
Chr9:137721882 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4375G>A (p.Gly1459Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240632]|not provided [RCV002223986] |
Chr9:134818884 [GRCh38]
Chr9:137710730 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4114G>A (p.Gly1372Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240569] |
Chr9:134815980 [GRCh38]
Chr9:137707826 [GRCh37]
Chr9:9q34.3 |
pathogenic|uncertain significance |
| NM_000093.5(COL5A1):c.1165-4G>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240579] |
Chr9:134731492 [GRCh38]
Chr9:137623338 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NC_000009.12:g.(?_134842147)_(134842313_?)del |
deletion |
Ehlers-Danlos syndrome, classic type [RCV001032437] |
Chr9:137733993..137734159 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1639C>T (p.Gln547Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002239336] |
Chr9:134750859 [GRCh38]
Chr9:137642705 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.2831C>T (p.Pro944Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240375] |
Chr9:134796405 [GRCh38]
Chr9:137688251 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.609C>T (p.Gly203=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240380]|Familial thoracic aortic aneurysm and aortic dissection [RCV002355060] |
Chr9:134701288 [GRCh38]
Chr9:137593134 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.2951C>G (p.Thr984Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240556]|Ehlers-Danlos syndrome, classic type, 1 [RCV002489707] |
Chr9:134798460 [GRCh38]
Chr9:137690306 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4289C>G (p.Ala1430Gly) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240322]|not provided [RCV001788410] |
Chr9:134818714 [GRCh38]
Chr9:137710560 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.4111C>G (p.Pro1371Ala) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240327]|not provided [RCV001551974] |
Chr9:134815977 [GRCh38]
Chr9:137707823 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.5416A>G (p.Lys1806Glu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240391] |
Chr9:134842202 [GRCh38]
Chr9:137734048 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1246TACTACGACCCC[3] (p.416YYDP[3]) |
microsatellite |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234198]|not provided [RCV001759492] |
Chr9:134731575..134731576 [GRCh38]
Chr9:137623421..137623422 [GRCh37]
Chr9:9q34.3 |
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_000093.5(COL5A1):c.491+271C>T |
single nucleotide variant |
not provided [RCV000827923] |
Chr9:134700393 [GRCh38]
Chr9:137592239 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3562A>G (p.Ile1188Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235012]|not provided [RCV003432772] |
Chr9:134811372 [GRCh38]
Chr9:137703218 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3099A>G (p.Gly1033=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235160]|Familial thoracic aortic aneurysm and aortic dissection [RCV003307603] |
Chr9:134802980 [GRCh38]
Chr9:137694826 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2013C>T (p.Pro671=) |
single nucleotide variant |
COL5A1-related condition [RCV003965680]|Ehlers-Danlos syndrome, classic type, 1 [RCV002235150]|Familial thoracic aortic aneurysm and aortic dissection [RCV002415997]|not provided [RCV001575564] |
Chr9:134763716 [GRCh38]
Chr9:137655562 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4131C>T (p.Pro1377=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235163]|Familial thoracic aortic aneurysm and aortic dissection [RCV002332788]|not provided [RCV000865959] |
Chr9:134817034 [GRCh38]
Chr9:137708880 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3936C>A (p.Gly1312=) |
single nucleotide variant |
COL5A1-related condition [RCV003895292]|Ehlers-Danlos syndrome [RCV002279581]|Ehlers-Danlos syndrome, classic type, 1 [RCV002235177]|Familial thoracic aortic aneurysm and aortic dissection [RCV003169153]|not provided [RCV000868877] |
Chr9:134814826 [GRCh38]
Chr9:137706672 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3330G>A (p.Gln1110=) |
single nucleotide variant |
not provided [RCV000977706] |
Chr9:134806260 [GRCh38]
Chr9:137698106 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1920C>A (p.Gly640=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235162]|Familial thoracic aortic aneurysm and aortic dissection [RCV003372897] |
Chr9:134758281 [GRCh38]
Chr9:137650127 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5193G>A (p.Leu1731=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234896] |
Chr9:134835027 [GRCh38]
Chr9:137726873 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4764C>T (p.Asp1588=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235949]|Familial thoracic aortic aneurysm and aortic dissection [RCV003169302] |
Chr9:134824665 [GRCh38]
Chr9:137716511 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1272C>A (p.Thr424=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235804] |
Chr9:134731603 [GRCh38]
Chr9:137623449 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3165A>G (p.Leu1055=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235978] |
Chr9:134805025 [GRCh38]
Chr9:137696871 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1428C>T (p.Pro476=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002064846]|not specified [RCV003330984] |
Chr9:134738512 [GRCh38]
Chr9:137630358 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.801C>T (p.Asp267=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235157]|not provided [RCV003736924] |
Chr9:134728684 [GRCh38]
Chr9:137620530 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1251C>T (p.Tyr417=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235155]|Familial thoracic aortic aneurysm and aortic dissection [RCV002409034] |
Chr9:134731582 [GRCh38]
Chr9:137623428 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2559T>C (p.Gly853=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235623] |
Chr9:134785063 [GRCh38]
Chr9:137676909 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4555-6T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235684] |
Chr9:134822091 [GRCh38]
Chr9:137713937 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4555-8C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235946] |
Chr9:134822089 [GRCh38]
Chr9:137713935 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3933G>A (p.Lys1311=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235812] |
Chr9:134814823 [GRCh38]
Chr9:137706669 [GRCh37]
Chr9:9q34.3 |
likely benign |
| GRCh37/hg19 9q34.3(chr9:137496881-137648441) |
copy number loss |
Ehlers-Danlos syndrome, classic type [RCV000767563] |
Chr9:137496881..137648441 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.5294dup (p.Phe1766fs) |
duplication |
not provided [RCV003314801] |
Chr9:134835127..134835128 [GRCh38]
Chr9:137726973..137726974 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4545_4549dup (p.Glu1517fs) |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235423] |
Chr9:134820213..134820214 [GRCh38]
Chr9:137712059..137712060 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.4554+247C>G |
single nucleotide variant |
not provided [RCV000827770] |
Chr9:134820470 [GRCh38]
Chr9:137712316 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.654+105G>A |
single nucleotide variant |
not provided [RCV000833871] |
Chr9:134701438 [GRCh38]
Chr9:137593284 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1389+139G>A |
single nucleotide variant |
not provided [RCV000833872] |
Chr9:134732266 [GRCh38]
Chr9:137624112 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1881+173G>A |
single nucleotide variant |
not provided [RCV000833873] |
Chr9:134756991 [GRCh38]
Chr9:137648837 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2332-177G>A |
single nucleotide variant |
not provided [RCV000833874] |
Chr9:134774682 [GRCh38]
Chr9:137666528 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2485-146T>C |
single nucleotide variant |
not provided [RCV000833879] |
Chr9:134784843 [GRCh38]
Chr9:137676689 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2485-90T>C |
single nucleotide variant |
not provided [RCV000833880] |
Chr9:134784899 [GRCh38]
Chr9:137676745 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2485-39_2485-38insTGT |
insertion |
not provided [RCV000833881] |
Chr9:134784950..134784951 [GRCh38]
Chr9:137676796..137676797 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3115-108C>T |
single nucleotide variant |
not provided [RCV000833882] |
Chr9:134804867 [GRCh38]
Chr9:137696713 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3258+150A>G |
single nucleotide variant |
not provided [RCV000833883] |
Chr9:134805364 [GRCh38]
Chr9:137697210 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3367-86C>T |
single nucleotide variant |
not provided [RCV000833884] |
Chr9:134809097 [GRCh38]
Chr9:137700943 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4014+209A>G |
single nucleotide variant |
not provided [RCV000833890] |
Chr9:134815113 [GRCh38]
Chr9:137706959 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2660del (p.Phe887fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235096] |
Chr9:134789167 [GRCh38]
Chr9:137681013 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.868C>T (p.Pro290Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235427] |
Chr9:134728751 [GRCh38]
Chr9:137620597 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5326T>C (p.Tyr1776His) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234773]|not provided [RCV001759559] |
Chr9:134835160 [GRCh38]
Chr9:137727006 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.654+73G>A |
single nucleotide variant |
not provided [RCV000833979] |
Chr9:134701406 [GRCh38]
Chr9:137593252 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.787-181C>T |
single nucleotide variant |
not provided [RCV000833996] |
Chr9:134728489 [GRCh38]
Chr9:137620335 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.787-99G>A |
single nucleotide variant |
not provided [RCV000833997] |
Chr9:134728571 [GRCh38]
Chr9:137620417 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2484+118G>A |
single nucleotide variant |
not provided [RCV000833998] |
Chr9:134782838 [GRCh38]
Chr9:137674684 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2485-191C>A |
single nucleotide variant |
not provided [RCV000833999] |
Chr9:134784798 [GRCh38]
Chr9:137676644 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2485-34_2485-33insGGCA |
insertion |
not provided [RCV000834000] |
Chr9:134784955..134784956 [GRCh38]
Chr9:137676801..137676802 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2592+209T>C |
single nucleotide variant |
not provided [RCV000834001] |
Chr9:134785305 [GRCh38]
Chr9:137677151 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4068+11A>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002068588]|not provided [RCV000841441] |
Chr9:134815640 [GRCh38]
Chr9:137707486 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.197G>C (p.Arg66Pro) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235437] |
Chr9:134690999 [GRCh38]
Chr9:137582845 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2655T>C (p.Ile885=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235976]|Familial thoracic aortic aneurysm and aortic dissection [RCV002427410]|not provided [RCV000977037] |
Chr9:134789163 [GRCh38]
Chr9:137681009 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5499G>A (p.Pro1833=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002062219]|Familial thoracic aortic aneurysm and aortic dissection [RCV002345919]|not provided [RCV000828079] |
Chr9:134842285 [GRCh38]
Chr9:137734131 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1442G>T (p.Gly481Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234219] |
Chr9:134738756 [GRCh38]
Chr9:137630602 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2799+22C>T |
single nucleotide variant |
not provided [RCV000832658] |
Chr9:134795337 [GRCh38]
Chr9:137687183 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3259-22C>T |
single nucleotide variant |
not provided [RCV000832660] |
Chr9:134806167 [GRCh38]
Chr9:137698013 [GRCh37]
Chr9:9q34.3 |
benign |
| NC_000009.12:g.134785950G>A |
single nucleotide variant |
not provided [RCV000832661] |
Chr9:137677796 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3115-67G>A |
single nucleotide variant |
not provided [RCV000832692] |
Chr9:134804908 [GRCh38]
Chr9:137696754 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4609-107G>A |
single nucleotide variant |
not provided [RCV000832693] |
Chr9:134822891 [GRCh38]
Chr9:137714737 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.987G>A (p.Lys329=) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002279555]|Ehlers-Danlos syndrome, classic type, 1 [RCV002538277]|not provided [RCV000831417] |
Chr9:134730298 [GRCh38]
Chr9:137622144 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.110-178G>A |
single nucleotide variant |
not provided [RCV000831474] |
Chr9:134690734 [GRCh38]
Chr9:137582580 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.654+213C>T |
single nucleotide variant |
not provided [RCV000831476] |
Chr9:134701546 [GRCh38]
Chr9:137593392 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1164+134A>C |
single nucleotide variant |
not provided [RCV000831481] |
Chr9:134730609 [GRCh38]
Chr9:137622455 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1591G>A (p.Asp531Asn) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234853] |
Chr9:134750811 [GRCh38]
Chr9:137642657 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.2845-70A>G |
single nucleotide variant |
not provided [RCV000831521] |
Chr9:134796778 [GRCh38]
Chr9:137688624 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4699-219A>G |
single nucleotide variant |
not provided [RCV000831522] |
Chr9:134824381 [GRCh38]
Chr9:137716227 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1923G>T (p.Glu641Asp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235329] |
Chr9:134758284 [GRCh38]
Chr9:137650130 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.3744+39C>T |
single nucleotide variant |
not provided [RCV000835807] |
Chr9:134812541 [GRCh38]
Chr9:137704387 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4015-30C>T |
single nucleotide variant |
not provided [RCV000835821] |
Chr9:134815546 [GRCh38]
Chr9:137707392 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5137-7C>G |
single nucleotide variant |
not provided [RCV000841719] |
Chr9:134834964 [GRCh38]
Chr9:137726810 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NC_000009.12:g.(?_134690902)_(134727407_?)del |
deletion |
Ehlers-Danlos syndrome, classic type [RCV000820578] |
Chr9:134690902..134727407 [GRCh38]
Chr9:137582748..137619253 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.1882-256C>T |
single nucleotide variant |
not provided [RCV000832555] |
Chr9:134757987 [GRCh38]
Chr9:137649833 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1936-299C>T |
single nucleotide variant |
not provided [RCV000832556] |
Chr9:134761626 [GRCh38]
Chr9:137653472 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4609-280del |
deletion |
not provided [RCV000832557] |
Chr9:134822718 [GRCh38]
Chr9:137714564 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2899-273C>T |
single nucleotide variant |
not provided [RCV000832872] |
Chr9:134798135 [GRCh38]
Chr9:137689981 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3852+181A>G |
single nucleotide variant |
not provided [RCV000832873] |
Chr9:134812893 [GRCh38]
Chr9:137704739 [GRCh37]
Chr9:9q34.3 |
benign |
| NC_000009.12:g.134820071G>A |
single nucleotide variant |
not provided [RCV000832874] |
Chr9:137711917 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4609-77G>C |
single nucleotide variant |
not provided [RCV000832875] |
Chr9:134822921 [GRCh38]
Chr9:137714767 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1850C>T (p.Ala617Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235366] |
Chr9:134756787 [GRCh38]
Chr9:137648633 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.491+92C>T |
single nucleotide variant |
not provided [RCV000833072] |
Chr9:134700214 [GRCh38]
Chr9:137592060 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1720-158C>G |
single nucleotide variant |
not provided [RCV000833074] |
Chr9:134753692 [GRCh38]
Chr9:137645538 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1720-157C>T |
single nucleotide variant |
not provided [RCV000833075] |
Chr9:134753693 [GRCh38]
Chr9:137645539 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2331+11G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594046]|not provided [RCV000842269] |
Chr9:134772845 [GRCh38]
Chr9:137664691 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1390-259G>A |
single nucleotide variant |
not provided [RCV000828772] |
Chr9:134738215 [GRCh38]
Chr9:137630061 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2953-301G>C |
single nucleotide variant |
not provided [RCV000828838] |
Chr9:134801653 [GRCh38]
Chr9:137693499 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4123-303C>A |
single nucleotide variant |
not provided [RCV000832128] |
Chr9:134816723 [GRCh38]
Chr9:137708569 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4123-302C>G |
single nucleotide variant |
not provided [RCV000832130] |
Chr9:134816724 [GRCh38]
Chr9:137708570 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2134-238A>G |
single nucleotide variant |
not provided [RCV000838051] |
Chr9:134766762 [GRCh38]
Chr9:137658608 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2845-11T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002536112]|not provided [RCV000829255] |
Chr9:134796837 [GRCh38]
Chr9:137688683 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1828-170C>T |
single nucleotide variant |
not provided [RCV000834604] |
Chr9:134756595 [GRCh38]
Chr9:137648441 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2485-39_2485-38insT |
insertion |
not provided [RCV000834615] |
Chr9:134784950..134784951 [GRCh38]
Chr9:137676796..137676797 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1228C>T (p.Arg410Trp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001766660]|not provided [RCV003238226] |
Chr9:134731559 [GRCh38]
Chr9:137623405 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.4676A>C (p.His1559Pro) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235127]|not provided [RCV001585756] |
Chr9:134823447 [GRCh38]
Chr9:137715293 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.3366+245C>A |
single nucleotide variant |
not provided [RCV000838171] |
Chr9:134806541 [GRCh38]
Chr9:137698387 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2484+14G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002538337]|not provided [RCV000842740] |
Chr9:134782734 [GRCh38]
Chr9:137674580 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.924+297C>A |
single nucleotide variant |
not provided [RCV000828711] |
Chr9:134729104 [GRCh38]
Chr9:137620950 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.278C>G (p.Ala93Gly) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234877] |
Chr9:134699909 [GRCh38]
Chr9:137591755 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4447-44C>T |
single nucleotide variant |
not provided [RCV000834635] |
Chr9:134820072 [GRCh38]
Chr9:137711918 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.925-180C>T |
single nucleotide variant |
not provided [RCV000834641] |
Chr9:134730056 [GRCh38]
Chr9:137621902 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1164+94C>T |
single nucleotide variant |
not provided [RCV000834642] |
Chr9:134730569 [GRCh38]
Chr9:137622415 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2430+4A>C |
single nucleotide variant |
COL5A1-related condition [RCV003918301]|Ehlers-Danlos syndrome, classic type, 1 [RCV003594044]|not provided [RCV000840097] |
Chr9:134780150 [GRCh38]
Chr9:137671996 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.888C>T (p.Pro296=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002538289]|Familial thoracic aortic aneurysm and aortic dissection [RCV002372377]|not provided [RCV000840148] |
Chr9:134728771 [GRCh38]
Chr9:137620617 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2253C>T (p.Gly751=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594045]|Familial thoracic aortic aneurysm and aortic dissection [RCV002442779]|not provided [RCV000840186] |
Chr9:134768430 [GRCh38]
Chr9:137660276 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.3007-96G>A |
single nucleotide variant |
not provided [RCV000832659] |
Chr9:134802792 [GRCh38]
Chr9:137694638 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4231-183G>A |
single nucleotide variant |
not provided [RCV000834753] |
Chr9:134818473 [GRCh38]
Chr9:137710319 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1967C>T (p.Pro656Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000869721]|Ehlers-Danlos syndrome, classic type, 1 [RCV002235485]|Familial thoracic aortic aneurysm and aortic dissection [RCV002416038]|Fibromuscular dysplasia, multifocal [RCV002271098]|not provided [RCV002508271] |
Chr9:134761956 [GRCh38]
Chr9:137653802 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.5137-7C>T |
single nucleotide variant |
COL5A1-related condition [RCV003965733]|Ehlers-Danlos syndrome, classic type, 1 [RCV002235179] |
Chr9:134834964 [GRCh38]
Chr9:137726810 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2385+250G>T |
single nucleotide variant |
not provided [RCV000828968] |
Chr9:134775162 [GRCh38]
Chr9:137667008 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1720-111G>A |
single nucleotide variant |
not provided [RCV000833076] |
Chr9:134753739 [GRCh38]
Chr9:137645585 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1827+94G>T |
single nucleotide variant |
not provided [RCV000833077] |
Chr9:134754420 [GRCh38]
Chr9:137646266 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4015-212C>T |
single nucleotide variant |
not provided [RCV000834886] |
Chr9:134815364 [GRCh38]
Chr9:137707210 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1936-170G>A |
single nucleotide variant |
not provided [RCV000834891] |
Chr9:134761755 [GRCh38]
Chr9:137653601 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5137-142C>T |
single nucleotide variant |
not provided [RCV000834893] |
Chr9:134834829 [GRCh38]
Chr9:137726675 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2390C>T (p.Ala797Val) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002279538]|Ehlers-Danlos syndrome, classic type, 1 [RCV002534754]|not provided [RCV001592995] |
Chr9:134780106 [GRCh38]
Chr9:137671952 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.1390-305C>T |
single nucleotide variant |
not provided [RCV000843519] |
Chr9:134738169 [GRCh38]
Chr9:137630015 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2287-260T>G |
single nucleotide variant |
not provided [RCV000843529] |
Chr9:134772530 [GRCh38]
Chr9:137664376 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.110-271C>T |
single nucleotide variant |
not provided [RCV000843531] |
Chr9:134690641 [GRCh38]
Chr9:137582487 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2332-291G>A |
single nucleotide variant |
not provided [RCV000843532] |
Chr9:134774568 [GRCh38]
Chr9:137666414 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.655-320G>A |
single nucleotide variant |
not provided [RCV000843533] |
Chr9:134726946 [GRCh38]
Chr9:137618792 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2592+288C>T |
single nucleotide variant |
not provided [RCV000843534] |
Chr9:134785384 [GRCh38]
Chr9:137677230 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2592+293A>G |
single nucleotide variant |
not provided [RCV000843535] |
Chr9:134785389 [GRCh38]
Chr9:137677235 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.786+271G>C |
single nucleotide variant |
not provided [RCV000843536] |
Chr9:134727668 [GRCh38]
Chr9:137619514 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2593-253A>C |
single nucleotide variant |
not provided [RCV000843537] |
Chr9:134785742 [GRCh38]
Chr9:137677588 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2899-318A>G |
single nucleotide variant |
not provided [RCV000843539] |
Chr9:134798090 [GRCh38]
Chr9:137689936 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3367-280T>G |
single nucleotide variant |
not provided [RCV000843540] |
Chr9:134808903 [GRCh38]
Chr9:137700749 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3474+255G>A |
single nucleotide variant |
not provided [RCV000843543] |
Chr9:134809545 [GRCh38]
Chr9:137701391 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1827+295A>G |
single nucleotide variant |
not provided [RCV000843545] |
Chr9:134754621 [GRCh38]
Chr9:137646467 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3475-299A>G |
single nucleotide variant |
not provided [RCV000843546] |
Chr9:134809956 [GRCh38]
Chr9:137701802 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3907-258A>G |
single nucleotide variant |
not provided [RCV000843547] |
Chr9:134814539 [GRCh38]
Chr9:137706385 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4122+287G>A |
single nucleotide variant |
not provided [RCV000843548] |
Chr9:134816275 [GRCh38]
Chr9:137708121 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4554+258C>G |
single nucleotide variant |
not provided [RCV000843549] |
Chr9:134820481 [GRCh38]
Chr9:137712327 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4554+263G>A |
single nucleotide variant |
not provided [RCV000843550] |
Chr9:134820486 [GRCh38]
Chr9:137712332 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4609-269G>A |
single nucleotide variant |
not provided [RCV000843562] |
Chr9:134822729 [GRCh38]
Chr9:137714575 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4955-311C>T |
single nucleotide variant |
not provided [RCV000843565] |
Chr9:134825481 [GRCh38]
Chr9:137717327 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.5068-279C>A |
single nucleotide variant |
not provided [RCV000843567] |
Chr9:134829697 [GRCh38]
Chr9:137721543 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4955-259C>A |
single nucleotide variant |
not provided [RCV000843571] |
Chr9:134825533 [GRCh38]
Chr9:137717379 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4955-258C>T |
single nucleotide variant |
not provided [RCV000843573] |
Chr9:134825534 [GRCh38]
Chr9:137717380 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2133+73G>A |
single nucleotide variant |
not provided [RCV000830151] |
Chr9:134766571 [GRCh38]
Chr9:137658417 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NC_000009.12:g.134795060C>T |
single nucleotide variant |
not provided [RCV000830175] |
Chr9:137686906 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.5371-42A>C |
single nucleotide variant |
not provided [RCV000830224] |
Chr9:134842115 [GRCh38]
Chr9:137733961 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4188C>T (p.Gly1396=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235022]|Familial thoracic aortic aneurysm and aortic dissection [RCV002332654] |
Chr9:134817789 [GRCh38]
Chr9:137709635 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.1816C>T (p.Pro606Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234244] |
Chr9:134754315 [GRCh38]
Chr9:137646161 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5224G>A (p.Val1742Ile) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235046]|not provided [RCV001796247] |
Chr9:134835058 [GRCh38]
Chr9:137726904 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.2042G>A (p.Arg681His) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235048]|not provided [RCV003318645] |
Chr9:134765688 [GRCh38]
Chr9:137657534 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.1340G>A (p.Gly447Glu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235052]|not provided [RCV003117606] |
Chr9:134732078 [GRCh38]
Chr9:137623924 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.925-63C>T |
single nucleotide variant |
not provided [RCV000833318] |
Chr9:134730173 [GRCh38]
Chr9:137622019 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.494G>A (p.Trp165Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234711] |
Chr9:134701173 [GRCh38]
Chr9:137593019 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.4177-151G>T |
single nucleotide variant |
not provided [RCV000834968] |
Chr9:134817627 [GRCh38]
Chr9:137709473 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5068-85A>G |
single nucleotide variant |
not provided [RCV000834982] |
Chr9:134829891 [GRCh38]
Chr9:137721737 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3529-1G>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235396] |
Chr9:134811338 [GRCh38]
Chr9:137703184 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.5336_5337delinsG (p.Asn1779fs) |
indel |
Ehlers-Danlos syndrome, classic type, 1 [RCV002536929] |
Chr9:134835170..134835171 [GRCh38]
Chr9:137727016..137727017 [GRCh37]
Chr9:9q34.3 |
pathogenic|uncertain significance |
| NM_000093.5(COL5A1):c.4698+146G>A |
single nucleotide variant |
not provided [RCV000835110] |
Chr9:134823615 [GRCh38]
Chr9:137715461 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2088+227G>A |
single nucleotide variant |
not provided [RCV000838701] |
Chr9:134765961 [GRCh38]
Chr9:137657807 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4698+135C>T |
single nucleotide variant |
not provided [RCV000833589] |
Chr9:134823604 [GRCh38]
Chr9:137715450 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3259-99A>T |
single nucleotide variant |
not provided [RCV000835194] |
Chr9:134806090 [GRCh38]
Chr9:137697936 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.297_304dup (p.Ile102fs) |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235355] |
Chr9:134699926..134699927 [GRCh38]
Chr9:137591772..137591773 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.2851A>C (p.Asn951His) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234742] |
Chr9:134796854 [GRCh38]
Chr9:137688700 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2386-8C>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234201] |
Chr9:134780094 [GRCh38]
Chr9:137671940 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.492-16A>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758940]|not provided [RCV000827356] |
Chr9:134701155 [GRCh38]
Chr9:137593001 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2899-261G>A |
single nucleotide variant |
not provided [RCV000830185] |
Chr9:134798147 [GRCh38]
Chr9:137689993 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4706C>T (p.Pro1569Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233873] |
Chr9:134824607 [GRCh38]
Chr9:137716453 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2799+33G>A |
single nucleotide variant |
not provided [RCV000830221] |
Chr9:134795348 [GRCh38]
Chr9:137687194 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.278-50T>C |
single nucleotide variant |
not provided [RCV000833633] |
Chr9:134699859 [GRCh38]
Chr9:137591705 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.655-106G>A |
single nucleotide variant |
not provided [RCV000833634] |
Chr9:134727160 [GRCh38]
Chr9:137619006 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.924+148G>C |
single nucleotide variant |
not provided [RCV000833635] |
Chr9:134728955 [GRCh38]
Chr9:137620801 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4446+134A>C |
single nucleotide variant |
not provided [RCV000833636] |
Chr9:134819187 [GRCh38]
Chr9:137711033 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2646+216G>A |
single nucleotide variant |
not provided [RCV000835320] |
Chr9:134786264 [GRCh38]
Chr9:137678110 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4954+21G>T |
single nucleotide variant |
not provided [RCV000835321] |
Chr9:134824876 [GRCh38]
Chr9:137716722 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2485-199G>A |
single nucleotide variant |
not provided [RCV000835356] |
Chr9:134784790 [GRCh38]
Chr9:137676636 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4990A>G (p.Arg1664Gly) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234744] |
Chr9:134825827 [GRCh38]
Chr9:137717673 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2700+2T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235400] |
Chr9:134789210 [GRCh38]
Chr9:137681056 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.2385+15C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002538296]|not provided [RCV000840834] |
Chr9:134774927 [GRCh38]
Chr9:137666773 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2800-18dup |
duplication |
not provided [RCV000826943] |
Chr9:134796350..134796351 [GRCh38]
Chr9:137688196..137688197 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2181C>T (p.Gly727=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234927]|Familial thoracic aortic aneurysm and aortic dissection [RCV002424855]|not provided [RCV000827231] |
Chr9:134767047 [GRCh38]
Chr9:137658893 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.1165-149C>T |
single nucleotide variant |
not provided [RCV000831482] |
Chr9:134731347 [GRCh38]
Chr9:137623193 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2134-116T>C |
single nucleotide variant |
not provided [RCV000831484] |
Chr9:134766884 [GRCh38]
Chr9:137658730 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2646+144T>C |
single nucleotide variant |
not provided [RCV000831485] |
Chr9:134786192 [GRCh38]
Chr9:137678038 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2799+153C>T |
single nucleotide variant |
not provided [RCV000831486] |
Chr9:134795468 [GRCh38]
Chr9:137687314 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2800-172T>C |
single nucleotide variant |
not provided [RCV000831487] |
Chr9:134796202 [GRCh38]
Chr9:137688048 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.787-8G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003106079]|not provided [RCV000831505] |
Chr9:134728662 [GRCh38]
Chr9:137620508 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.109+37G>A |
single nucleotide variant |
not provided [RCV000833764] |
Chr9:134642333 [GRCh38]
Chr9:137534179 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1773+130C>T |
single nucleotide variant |
not provided [RCV000835425] |
Chr9:134754033 [GRCh38]
Chr9:137645879 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2647-250C>T |
single nucleotide variant |
not provided [RCV000839106] |
Chr9:134788905 [GRCh38]
Chr9:137680751 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5371-289T>C |
single nucleotide variant |
not provided [RCV000827665] |
Chr9:134841868 [GRCh38]
Chr9:137733714 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.5136+421C>T |
single nucleotide variant |
not provided [RCV000827920] |
Chr9:134830465 [GRCh38]
Chr9:137722311 [GRCh37]
Chr9:9q34.3 |
benign |
| NC_000009.12:g.134728628C>T |
single nucleotide variant |
not provided [RCV000830143] |
Chr9:137620474 [GRCh37]
Chr9:9q34.3 |
benign |
| NC_000009.12:g.134753816C>T |
single nucleotide variant |
not provided [RCV000830149] |
Chr9:137645662 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2286+66A>G |
single nucleotide variant |
not provided [RCV000830153] |
Chr9:134768529 [GRCh38]
Chr9:137660375 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2318A>T (p.Glu773Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234332] |
Chr9:134772821 [GRCh38]
Chr9:137664667 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3007-36C>G |
single nucleotide variant |
not provided [RCV000830222] |
Chr9:134802852 [GRCh38]
Chr9:137694698 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2485-201C>T |
single nucleotide variant |
not provided [RCV000833875] |
Chr9:134784788 [GRCh38]
Chr9:137676634 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2485-183T>A |
single nucleotide variant |
not provided [RCV000833876] |
Chr9:134784806 [GRCh38]
Chr9:137676652 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2701-103C>A |
single nucleotide variant |
not provided [RCV000834002] |
Chr9:134794979 [GRCh38]
Chr9:137686825 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3055C>T (p.Pro1019Ser) |
single nucleotide variant |
not provided [RCV000788361] |
Chr9:134802936 [GRCh38]
Chr9:137694782 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2044G>A (p.Gly682Ser) |
single nucleotide variant |
not provided [RCV000788375] |
Chr9:134765690 [GRCh38]
Chr9:137657536 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.92C>A (p.Pro31Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234356] |
Chr9:134642279 [GRCh38]
Chr9:137534125 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3887C>T (p.Pro1296Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234833] |
Chr9:134814017 [GRCh38]
Chr9:137705863 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.860G>A (p.Gly287Glu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235031] |
Chr9:134728743 [GRCh38]
Chr9:137620589 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3667C>T (p.Pro1223Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234360] |
Chr9:134811576 [GRCh38]
Chr9:137703422 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.492-280C>T |
single nucleotide variant |
not provided [RCV000828477] |
Chr9:134700891 [GRCh38]
Chr9:137592737 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2952+2_2952+3del |
microsatellite |
Ehlers-Danlos syndrome [RCV002279550]|Ehlers-Danlos syndrome, classic type, 1 [RCV002235394]|not provided [RCV003317383] |
Chr9:134798461..134798462 [GRCh38]
Chr9:137690307..137690308 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic |
| NM_000093.5(COL5A1):c.1165-39G>A |
single nucleotide variant |
not provided [RCV000834618] |
Chr9:134731457 [GRCh38]
Chr9:137623303 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2430+196C>T |
single nucleotide variant |
not provided [RCV000834964] |
Chr9:134780342 [GRCh38]
Chr9:137672188 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2899-72G>A |
single nucleotide variant |
not provided [RCV000834965] |
Chr9:134798336 [GRCh38]
Chr9:137690182 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3906+34A>G |
single nucleotide variant |
not provided [RCV000834966] |
Chr9:134814070 [GRCh38]
Chr9:137705916 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4122+97C>A |
single nucleotide variant |
not provided [RCV000834967] |
Chr9:134816085 [GRCh38]
Chr9:137707931 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4447-101C>T |
single nucleotide variant |
not provided [RCV000834976] |
Chr9:134820015 [GRCh38]
Chr9:137711861 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4955-119C>T |
single nucleotide variant |
not provided [RCV000834977] |
Chr9:134825673 [GRCh38]
Chr9:137717519 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.5068-141C>A |
single nucleotide variant |
not provided [RCV000834978] |
Chr9:134829835 [GRCh38]
Chr9:137721681 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5068-128C>A |
single nucleotide variant |
not provided [RCV000834979] |
Chr9:134829848 [GRCh38]
Chr9:137721694 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5068-96G>A |
single nucleotide variant |
not provided [RCV000834980] |
Chr9:134829880 [GRCh38]
Chr9:137721726 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5068-86A>G |
single nucleotide variant |
not provided [RCV000834981] |
Chr9:134829890 [GRCh38]
Chr9:137721736 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4644+99C>G |
single nucleotide variant |
not provided [RCV000835108] |
Chr9:134823132 [GRCh38]
Chr9:137714978 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4644+129C>G |
single nucleotide variant |
not provided [RCV000835109] |
Chr9:134823162 [GRCh38]
Chr9:137715008 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.277+146G>A |
single nucleotide variant |
not provided [RCV000835195] |
Chr9:134691225 [GRCh38]
Chr9:137583071 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.924+35C>A |
single nucleotide variant |
not provided [RCV000835196] |
Chr9:134728842 [GRCh38]
Chr9:137620688 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1164+87T>A |
single nucleotide variant |
not provided [RCV000835197] |
Chr9:134730562 [GRCh38]
Chr9:137622408 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.278-224T>C |
single nucleotide variant |
not provided [RCV000838698] |
Chr9:134699685 [GRCh38]
Chr9:137591531 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2332-20C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002538315]|not provided [RCV000841601] |
Chr9:134774839 [GRCh38]
Chr9:137666685 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.492-56T>C |
single nucleotide variant |
not provided [RCV000831475] |
Chr9:134701115 [GRCh38]
Chr9:137592961 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.655-142G>A |
single nucleotide variant |
not provided [RCV000831477] |
Chr9:134727124 [GRCh38]
Chr9:137618970 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2845-117A>G |
single nucleotide variant |
not provided [RCV000831520] |
Chr9:134796731 [GRCh38]
Chr9:137688577 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.5067+119C>T |
single nucleotide variant |
not provided [RCV000831523] |
Chr9:134826023 [GRCh38]
Chr9:137717869 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.5136+280G>A |
single nucleotide variant |
not provided [RCV000831525] |
Chr9:134830324 [GRCh38]
Chr9:137722170 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3853-50G>A |
single nucleotide variant |
not provided [RCV000835415] |
Chr9:134813933 [GRCh38]
Chr9:137705779 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5303G>A (p.Gly1768Asp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235359] |
Chr9:134835137 [GRCh38]
Chr9:137726983 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2701-186T>C |
single nucleotide variant |
not provided [RCV000835463] |
Chr9:134794896 [GRCh38]
Chr9:137686742 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4698+121C>T |
single nucleotide variant |
not provided [RCV000835464] |
Chr9:134823590 [GRCh38]
Chr9:137715436 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1144G>A (p.Asp382Asn) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234967]|not provided [RCV001592996] |
Chr9:134730455 [GRCh38]
Chr9:137622301 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.2431-295_2431-294del |
deletion |
not provided [RCV000828489] |
Chr9:134782372..134782373 [GRCh38]
Chr9:137674218..137674219 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.409G>T (p.Val137Phe) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594041]|not provided [RCV000788872] |
Chr9:134700040 [GRCh38]
Chr9:137591886 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1222A>G (p.Thr408Ala) |
single nucleotide variant |
not provided [RCV000788938] |
Chr9:134731553 [GRCh38]
Chr9:137623399 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2905C>G (p.Pro969Ala) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234868] |
Chr9:134798414 [GRCh38]
Chr9:137690260 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.5068-260T>C |
single nucleotide variant |
not provided [RCV000832162] |
Chr9:134829716 [GRCh38]
Chr9:137721562 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1828-297T>C |
single nucleotide variant |
not provided [RCV000832199] |
Chr9:134756468 [GRCh38]
Chr9:137648314 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2425G>T (p.Glu809Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235371] |
Chr9:134780141 [GRCh38]
Chr9:137671987 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| GRCh37/hg19 9q34.3(chr9:137421583-138211368)x3 |
copy number gain |
not provided [RCV000847872] |
Chr9:137421583..138211368 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1390-277C>T |
single nucleotide variant |
not provided [RCV000828712] |
Chr9:134738197 [GRCh38]
Chr9:137630043 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4698+289C>T |
single nucleotide variant |
not provided [RCV000832558] |
Chr9:134823758 [GRCh38]
Chr9:137715604 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4940C>T (p.Pro1647Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235326] |
Chr9:134824841 [GRCh38]
Chr9:137716687 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.1508G>A (p.Arg503His) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235467] |
Chr9:134750555 [GRCh38]
Chr9:137642401 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.4609-272C>A |
single nucleotide variant |
not provided [RCV000828851] |
Chr9:134822726 [GRCh38]
Chr9:137714572 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1882-272C>T |
single nucleotide variant |
not provided [RCV000832827] |
Chr9:134757971 [GRCh38]
Chr9:137649817 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4739C>T (p.Ala1580Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000814856] |
Chr9:134824640 [GRCh38]
Chr9:137716486 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5204G>A (p.Ser1735Asn) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235045]|not provided [RCV001759582] |
Chr9:134835038 [GRCh38]
Chr9:137726884 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.5420T>A (p.Val1807Glu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234326] |
Chr9:134842206 [GRCh38]
Chr9:137734052 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2646+91C>T |
single nucleotide variant |
not provided [RCV000833194] |
Chr9:134786139 [GRCh38]
Chr9:137677985 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2196A>G (p.Pro732=) |
single nucleotide variant |
not provided [RCV000827288] |
Chr9:134767318 [GRCh38]
Chr9:137659164 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5068-116del |
deletion |
not provided [RCV000834613] |
Chr9:134829854 [GRCh38]
Chr9:137721700 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4358G>T (p.Gly1453Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233844] |
Chr9:134818867 [GRCh38]
Chr9:137710713 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2293C>T (p.Pro765Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV001165821]|not provided [RCV003145363] |
Chr9:134772796 [GRCh38]
Chr9:137664642 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.4609-278del |
deletion |
not provided [RCV000828688] |
Chr9:134822720 [GRCh38]
Chr9:137714566 [GRCh37]
Chr9:9q34.3 |
benign |
| NC_000009.12:g.134753802T>C |
single nucleotide variant |
not provided [RCV000830148] |
Chr9:137645648 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1774-73A>G |
single nucleotide variant |
not provided [RCV000830150] |
Chr9:134754200 [GRCh38]
Chr9:137646046 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4645-111T>G |
single nucleotide variant |
not provided [RCV000830156] |
Chr9:134823305 [GRCh38]
Chr9:137715151 [GRCh37]
Chr9:9q34.3 |
benign |
| NC_000009.12:g.134825764T>C |
single nucleotide variant |
not provided [RCV000830157] |
Chr9:137717610 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2745+66A>G |
single nucleotide variant |
not provided [RCV000830176] |
Chr9:134795192 [GRCh38]
Chr9:137687038 [GRCh37]
Chr9:9q34.3 |
benign |
| NC_000009.12:g.134796811A>G |
single nucleotide variant |
not provided [RCV000830183] |
Chr9:137688657 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2898+116G>A |
single nucleotide variant |
not provided [RCV000830184] |
Chr9:134797017 [GRCh38]
Chr9:137688863 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.3(COL5A1):c.-400C>G |
single nucleotide variant |
not provided [RCV000830220] |
Chr9:134641788 [GRCh38]
Chr9:137533634 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2430+290A>G |
single nucleotide variant |
not provided [RCV000828713] |
Chr9:134780436 [GRCh38]
Chr9:137672282 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2592+298G>A |
single nucleotide variant |
not provided [RCV000828714] |
Chr9:134785394 [GRCh38]
Chr9:137677240 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2898+287TC[3] |
microsatellite |
not provided [RCV000828718] |
Chr9:134797187..134797188 [GRCh38]
Chr9:137689033..137689034 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2809G>A (p.Gly937Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234364]|not provided [RCV002293484] |
Chr9:134796383 [GRCh38]
Chr9:137688229 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2592+314C>T |
single nucleotide variant |
not provided [RCV000828824] |
Chr9:134785410 [GRCh38]
Chr9:137677256 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3987C>G (p.Pro1329=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002068742] |
Chr9:134814877 [GRCh38]
Chr9:137706723 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4085C>T (p.Pro1362Leu) |
single nucleotide variant |
not provided [RCV000999276] |
Chr9:134815951 [GRCh38]
Chr9:137707797 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NC_000009.12:g.(?_134642178)_(134768473_?)del |
deletion |
Ehlers-Danlos syndrome, classic type [RCV000812005]|Ehlers-Danlos syndrome, classic type, 1 [RCV001856254] |
Chr9:134642178..134768473 [GRCh38]
Chr9:137534024..137660319 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.2646+287G>A |
single nucleotide variant |
not provided [RCV000828716] |
Chr9:134786335 [GRCh38]
Chr9:137678181 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2701-301G>A |
single nucleotide variant |
not provided [RCV000828717] |
Chr9:134794781 [GRCh38]
Chr9:137686627 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3258+258T>C |
single nucleotide variant |
not provided [RCV000828768] |
Chr9:134805472 [GRCh38]
Chr9:137697318 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.849C>T (p.Pro283=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234885]|not provided [RCV000830933]|not specified [RCV003323738] |
Chr9:134728732 [GRCh38]
Chr9:137620578 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1240G>A (p.Glu414Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234180]|not provided [RCV001811482] |
Chr9:134731571 [GRCh38]
Chr9:137623417 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.4638del (p.Ser1547fs) |
deletion |
not provided [RCV001091219] |
Chr9:134823027 [GRCh38]
Chr9:137714873 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.2431-289C>G |
single nucleotide variant |
not provided [RCV000829011] |
Chr9:134782378 [GRCh38]
Chr9:137674224 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3115-14G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV001168783]|Ehlers-Danlos syndrome, classic type, 1 [RCV002067830]|Fibromuscular dysplasia, multifocal [RCV002271186]|not specified [RCV003331056] |
Chr9:134804961 [GRCh38]
Chr9:137696807 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.3429G>A (p.Pro1143=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV001168784]|Ehlers-Danlos syndrome, classic type, 1 [RCV003117798]|Familial thoracic aortic aneurysm and aortic dissection [RCV002451348] |
Chr9:134809245 [GRCh38]
Chr9:137701091 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1569+6T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234241] |
Chr9:134750622 [GRCh38]
Chr9:137642468 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2187+4A>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234374] |
Chr9:134767057 [GRCh38]
Chr9:137658903 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2988C>A (p.Pro996=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234346] |
Chr9:134801989 [GRCh38]
Chr9:137693835 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.710G>A (p.Cys237Tyr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000795721] |
Chr9:134727321 [GRCh38]
Chr9:137619167 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4887G>A (p.Leu1629=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV003483729]|Ehlers-Danlos syndrome, classic type, 1 [RCV002234318] |
Chr9:134824788 [GRCh38]
Chr9:137716634 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance|not provided |
| NM_000093.5(COL5A1):c.1120G>A (p.Ala374Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235564]|Familial thoracic aortic aneurysm and aortic dissection [RCV002434014] |
Chr9:134730431 [GRCh38]
Chr9:137622277 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.1383C>G (p.Ile461Met) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235412] |
Chr9:134732121 [GRCh38]
Chr9:137623967 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.4487A>G (p.Glu1496Gly) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234831] |
Chr9:134820156 [GRCh38]
Chr9:137712002 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5039G>T (p.Cys1680Phe) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234923] |
Chr9:134825876 [GRCh38]
Chr9:137717722 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3528+295T>C |
single nucleotide variant |
not provided [RCV000828719] |
Chr9:134810603 [GRCh38]
Chr9:137702449 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1990-219G>A |
single nucleotide variant |
not provided [RCV000833591] |
Chr9:134763474 [GRCh38]
Chr9:137655320 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3853-125C>A |
single nucleotide variant |
not provided [RCV000833606] |
Chr9:134813858 [GRCh38]
Chr9:137705704 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1989+279T>C |
single nucleotide variant |
not provided [RCV000843523] |
Chr9:134762257 [GRCh38]
Chr9:137654103 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2034+256C>T |
single nucleotide variant |
not provided [RCV000843524] |
Chr9:134763993 [GRCh38]
Chr9:137655839 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1662+252G>A |
single nucleotide variant |
not provided [RCV000843542] |
Chr9:134751134 [GRCh38]
Chr9:137642980 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4554+307C>A |
single nucleotide variant |
not provided [RCV000843553] |
Chr9:134820530 [GRCh38]
Chr9:137712376 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4554+321T>C |
single nucleotide variant |
not provided [RCV000843555] |
Chr9:134820544 [GRCh38]
Chr9:137712390 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2089-288C>T |
single nucleotide variant |
not provided [RCV000843557] |
Chr9:134766166 [GRCh38]
Chr9:137658012 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4609-278G>C |
single nucleotide variant |
not provided [RCV000843559] |
Chr9:134822720 [GRCh38]
Chr9:137714566 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4176+257C>G |
single nucleotide variant |
not provided [RCV000843563] |
Chr9:134817336 [GRCh38]
Chr9:137709182 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1881+292G>A |
single nucleotide variant |
not provided [RCV000828778] |
Chr9:134757110 [GRCh38]
Chr9:137648956 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.109+296A>G |
single nucleotide variant |
not provided [RCV000828849] |
Chr9:134642592 [GRCh38]
Chr9:137534438 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5370+279G>T |
single nucleotide variant |
not provided [RCV000828865] |
Chr9:134835483 [GRCh38]
Chr9:137727329 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4927C>T (p.Gln1643Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235068] |
Chr9:134824828 [GRCh38]
Chr9:137716674 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.2485-160C>T |
single nucleotide variant |
not provided [RCV000833877] |
Chr9:134784829 [GRCh38]
Chr9:137676675 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2485-147G>C |
single nucleotide variant |
not provided [RCV000833878] |
Chr9:134784842 [GRCh38]
Chr9:137676688 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4897C>G (p.Gln1633Glu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234336] |
Chr9:134824798 [GRCh38]
Chr9:137716644 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4319G>A (p.Arg1440Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594040]|not provided [RCV000788116] |
Chr9:134818744 [GRCh38]
Chr9:137710590 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.2953-235AG[3] |
microsatellite |
not provided [RCV000837584] |
Chr9:134801718..134801719 [GRCh38]
Chr9:137693564..137693565 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1292G>A (p.Gly431Glu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234942]|not provided [RCV001836893]|not specified [RCV003489891] |
Chr9:134731623 [GRCh38]
Chr9:137623469 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.1134C>T (p.Thr378=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235843]|Familial thoracic aortic aneurysm and aortic dissection [RCV002320176] |
Chr9:134730445 [GRCh38]
Chr9:137622291 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1048T>C (p.Ser350Pro) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001258199]|not provided [RCV003424346] |
Chr9:134730359 [GRCh38]
Chr9:137622205 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3870A>G (p.Ala1290=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758942]|Familial thoracic aortic aneurysm and aortic dissection [RCV002352488]|not provided [RCV000841551] |
Chr9:134814000 [GRCh38]
Chr9:137705846 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3254C>T (p.Pro1085Leu) |
single nucleotide variant |
not provided [RCV000788683] |
Chr9:134805210 [GRCh38]
Chr9:137697056 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2286+223G>C |
single nucleotide variant |
not provided [RCV000838110] |
Chr9:134768686 [GRCh38]
Chr9:137660532 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2603del (p.Gly868fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV003314256] |
Chr9:134786004 [GRCh38]
Chr9:137677850 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.786+182T>G |
single nucleotide variant |
not provided [RCV000831478] |
Chr9:134727579 [GRCh38]
Chr9:137619425 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.787-180G>A |
single nucleotide variant |
not provided [RCV000831479] |
Chr9:134728490 [GRCh38]
Chr9:137620336 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.924+194A>C |
single nucleotide variant |
not provided [RCV000831480] |
Chr9:134729001 [GRCh38]
Chr9:137620847 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2844+41G>T |
single nucleotide variant |
not provided [RCV000831518] |
Chr9:134796459 [GRCh38]
Chr9:137688305 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2844+163T>G |
single nucleotide variant |
not provided [RCV000831519] |
Chr9:134796581 [GRCh38]
Chr9:137688427 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.5068-170C>T |
single nucleotide variant |
not provided [RCV000831524] |
Chr9:134829806 [GRCh38]
Chr9:137721652 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1935+133A>T |
single nucleotide variant |
not provided [RCV000834752] |
Chr9:134758429 [GRCh38]
Chr9:137650275 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1333-6_1333-5insAGATTGTC |
insertion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235349] |
Chr9:134732064..134732065 [GRCh38]
Chr9:137623910..137623911 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4231-228G>A |
single nucleotide variant |
not provided [RCV000838196] |
Chr9:134818428 [GRCh38]
Chr9:137710274 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2331+4G>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234377] |
Chr9:134772838 [GRCh38]
Chr9:137664684 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1882-133A>G |
single nucleotide variant |
not provided [RCV000835017] |
Chr9:134758110 [GRCh38]
Chr9:137649956 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1935+127G>C |
single nucleotide variant |
not provided [RCV000835018] |
Chr9:134758423 [GRCh38]
Chr9:137650269 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4372G>A (p.Asp1458Asn) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002279585]|Ehlers-Danlos syndrome, classic type, 1 [RCV002235916]|not provided [RCV001552506] |
Chr9:134818881 [GRCh38]
Chr9:137710727 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NC_000009.11:g.(?_134379574)_(138678377_?)dup |
duplication |
Ehlers-Danlos syndrome, classic type [RCV000807925] |
Chr9:134379574..138678377 [GRCh37]
Chr9:9q34.13-34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.492-76C>G |
single nucleotide variant |
not provided [RCV000835106] |
Chr9:134701095 [GRCh38]
Chr9:137592941 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3529-172G>A |
single nucleotide variant |
not provided [RCV000835107] |
Chr9:134811167 [GRCh38]
Chr9:137703013 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4955-297G>T |
single nucleotide variant |
not provided [RCV000832161] |
Chr9:134825495 [GRCh38]
Chr9:137717341 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3367-281C>T |
single nucleotide variant |
not provided [RCV000832210] |
Chr9:134808902 [GRCh38]
Chr9:137700748 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2287-180G>A |
single nucleotide variant |
not provided [RCV000835378] |
Chr9:134772610 [GRCh38]
Chr9:137664456 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2845-90G>A |
single nucleotide variant |
not provided [RCV000835379] |
Chr9:134796758 [GRCh38]
Chr9:137688604 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3916G>A (p.Gly1306Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233837] |
Chr9:134814806 [GRCh38]
Chr9:137706652 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NC_000009.12:g.134763761C>T |
single nucleotide variant |
not provided [RCV000832393] |
Chr9:137655607 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2187+101C>T |
single nucleotide variant |
not provided [RCV000832394] |
Chr9:134767154 [GRCh38]
Chr9:137659000 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NC_000009.12:g.134767390C>T |
single nucleotide variant |
not provided [RCV000832395] |
Chr9:137659236 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2286+146T>C |
single nucleotide variant |
not provided [RCV000832396] |
Chr9:134768609 [GRCh38]
Chr9:137660455 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2331+191G>C |
single nucleotide variant |
not provided [RCV000832397] |
Chr9:134773025 [GRCh38]
Chr9:137664871 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2331G>A (p.Gln777=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234725] |
Chr9:134772834 [GRCh38]
Chr9:137664680 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2431-57C>T |
single nucleotide variant |
not provided [RCV000839165] |
Chr9:134782610 [GRCh38]
Chr9:137674456 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5155G>T (p.Glu1719Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000795511] |
Chr9:134834989 [GRCh38]
Chr9:137726835 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.1832G>A (p.Arg611Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235561]|not provided [RCV001569341] |
Chr9:134756769 [GRCh38]
Chr9:137648615 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.4555-294G>A |
single nucleotide variant |
not provided [RCV000827973] |
Chr9:134821803 [GRCh38]
Chr9:137713649 [GRCh37]
Chr9:9q34.3 |
benign |
| NC_000009.12:g.134730187A>G |
single nucleotide variant |
not provided [RCV000830144] |
Chr9:137622033 [GRCh37]
Chr9:9q34.3 |
benign |
| NC_000009.12:g.134730193G>A |
single nucleotide variant |
not provided [RCV000830145] |
Chr9:137622039 [GRCh37]
Chr9:9q34.3 |
benign |
| NC_000009.12:g.134731709T>C |
single nucleotide variant |
not provided [RCV000830146] |
Chr9:137623555 [GRCh37]
Chr9:9q34.3 |
benign |
| NC_000009.12:g.134738722C>T |
single nucleotide variant |
not provided [RCV000830147] |
Chr9:137630568 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2233-62G>T |
single nucleotide variant |
not provided [RCV000830152] |
Chr9:134768348 [GRCh38]
Chr9:137660194 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4645-112A>T |
single nucleotide variant |
not provided [RCV000830155] |
Chr9:134823304 [GRCh38]
Chr9:137715150 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2898+114C>T |
single nucleotide variant |
not provided [RCV000830177] |
Chr9:134797015 [GRCh38]
Chr9:137688861 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3474+64G>A |
single nucleotide variant |
not provided [RCV000830223] |
Chr9:134809354 [GRCh38]
Chr9:137701200 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4609-279_4609-278insCCC |
insertion |
not provided [RCV000832828] |
Chr9:134822718..134822719 [GRCh38]
Chr9:137714564..137714565 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2524C>A (p.Pro842Thr) |
single nucleotide variant |
not provided [RCV000788146] |
Chr9:134785028 [GRCh38]
Chr9:137676874 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.-199C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV001169653] |
Chr9:134641989 [GRCh38]
Chr9:137533835 [GRCh37]
Chr9:9q34.3 |
benign |
| NC_000009.12:g.134824601del |
deletion |
Ehlers-Danlos syndrome, classic type [RCV000988286] |
Chr9:134824599 [GRCh38]
Chr9:137716445 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.*1287C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV001168973] |
Chr9:134843590 [GRCh38]
Chr9:137735436 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.508C>G (p.Leu170Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240157]|not provided [RCV002275187] |
Chr9:134701187 [GRCh38]
Chr9:137593033 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.756A>C (p.Pro252=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235710]|not provided [RCV000937075] |
Chr9:134727367 [GRCh38]
Chr9:137619213 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2700+191C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000985028] |
Chr9:134789399 [GRCh38]
Chr9:137681245 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2237C>G (p.Pro746Arg) |
single nucleotide variant |
not provided [RCV000999271] |
Chr9:134768414 [GRCh38]
Chr9:137660260 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NC_000009.12:g.(?_134642178)_(134701343_?)del |
deletion |
Ehlers-Danlos syndrome, classic type [RCV001031377]|Ehlers-Danlos syndrome, classic type, 1 [RCV001862444] |
Chr9:137534024..137593189 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.-249G>A |
single nucleotide variant |
not provided [RCV001564230] |
Chr9:134641939 [GRCh38]
Chr9:137533785 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2647-3C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241397] |
Chr9:134789152 [GRCh38]
Chr9:137680998 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.187G>A (p.Ala63Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241291] |
Chr9:134690989 [GRCh38]
Chr9:137582835 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.761C>A (p.Ser254Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241626] |
Chr9:134727372 [GRCh38]
Chr9:137619218 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.1750G>A (p.Glu584Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241627] |
Chr9:134753880 [GRCh38]
Chr9:137645726 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.1445C>T (p.Pro482Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241535]|not provided [RCV003145470] |
Chr9:134738759 [GRCh38]
Chr9:137630605 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.5067+1G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241243] |
Chr9:134825905 [GRCh38]
Chr9:137717751 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.4707G>A (p.Pro1569=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240989] |
Chr9:134824608 [GRCh38]
Chr9:137716454 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.1499C>T (p.Pro500Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241539] |
Chr9:134750546 [GRCh38]
Chr9:137642392 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.3583-7C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241787] |
Chr9:134811485 [GRCh38]
Chr9:137703331 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4869G>T (p.Glu1623Asp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241287] |
Chr9:134824770 [GRCh38]
Chr9:137716616 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1194_1196delinsG (p.Asp398fs) |
indel |
Ehlers-Danlos syndrome, classic type, 1 [RCV002564002] |
Chr9:134731525..134731527 [GRCh38]
Chr9:137623371..137623373 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.1100C>T (p.Pro367Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240990] |
Chr9:134730411 [GRCh38]
Chr9:137622257 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3041G>A (p.Arg1014His) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241078]|See cases [RCV002252330] |
Chr9:134802922 [GRCh38]
Chr9:137694768 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.4657C>T (p.Pro1553Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241532] |
Chr9:134823428 [GRCh38]
Chr9:137715274 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.695C>T (p.Ala232Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV001249310] |
Chr9:134727306 [GRCh38]
Chr9:137619152 [GRCh37]
Chr9:9q34.3 |
not provided |
| NM_000093.5(COL5A1):c.1825C>T (p.Arg609Trp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241533] |
Chr9:134754324 [GRCh38]
Chr9:137646170 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5065G>A (p.Gly1689Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241334] |
Chr9:134825902 [GRCh38]
Chr9:137717748 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1977C>A (p.Asp659Glu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241335]|Familial thoracic aortic aneurysm and aortic dissection [RCV003294078] |
Chr9:134761966 [GRCh38]
Chr9:137653812 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.4982G>A (p.Gly1661Glu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241560] |
Chr9:134825819 [GRCh38]
Chr9:137717665 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5136_5136+8delinsTGAATTCCCAC |
indel |
Ehlers-Danlos syndrome, classic type, 1 [RCV002564114] |
Chr9:134830044..134830052 [GRCh38]
Chr9:137721890..137721898 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| GRCh37/hg19 9q34.3(chr9:137434514-137638766)x3 |
copy number gain |
not provided [RCV000846779] |
Chr9:137434514..137638766 [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 |
| NM_000093.5(COL5A1):c.4393-4_4398del |
deletion |
Ehlers-Danlos syndrome [RCV003317695] |
Chr9:134818992..134819001 [GRCh38]
Chr9:137710838..137710847 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.3452C>G (p.Pro1151Arg) |
single nucleotide variant |
not provided [RCV003312746] |
Chr9:134809268 [GRCh38]
Chr9:137701114 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.594G>A (p.Met198Ile) |
single nucleotide variant |
not provided [RCV003313677] |
Chr9:134701273 [GRCh38]
Chr9:137593119 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2646+16del |
deletion |
Ehlers-Danlos syndrome, classic type, 2 [RCV001197286] |
Chr9:134786064 [GRCh38]
Chr9:137677910 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5154C>A (p.Ala1718=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241203] |
Chr9:134834988 [GRCh38]
Chr9:137726834 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5267C>G (p.Ala1756Gly) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241351] |
Chr9:134835101 [GRCh38]
Chr9:137726947 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4804_4805insCGTTCTCTACCAGCTGC (p.Val1602fs) |
insertion |
Ehlers-Danlos syndrome, classic type, 2 [RCV001195885] |
Chr9:134824705..134824706 [GRCh38]
Chr9:137716551..137716552 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.3804dup (p.Gln1269fs) |
duplication |
not provided [RCV001008762] |
Chr9:134812663..134812664 [GRCh38]
Chr9:137704509..137704510 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.5510T>C (p.Met1837Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003105003] |
Chr9:134842296 [GRCh38]
Chr9:137734142 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.212C>G (p.Pro71Arg) |
single nucleotide variant |
not provided [RCV003236972] |
Chr9:134691014 [GRCh38]
Chr9:137582860 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5038T>C (p.Cys1680Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV003123354] |
Chr9:134825875 [GRCh38]
Chr9:137717721 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.2431-1G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003104184] |
Chr9:134782666 [GRCh38]
Chr9:137674512 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.2089-210A>G |
single nucleotide variant |
not provided [RCV001641943] |
Chr9:134766244 [GRCh38]
Chr9:137658090 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4698+154G>A |
single nucleotide variant |
not provided [RCV001571759] |
Chr9:134823623 [GRCh38]
Chr9:137715469 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.924+322G>A |
single nucleotide variant |
not provided [RCV001550372] |
Chr9:134729129 [GRCh38]
Chr9:137620975 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.491+36G>C |
single nucleotide variant |
not provided [RCV001582229] |
Chr9:134700158 [GRCh38]
Chr9:137592004 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4699-60C>T |
single nucleotide variant |
not provided [RCV001565263] |
Chr9:134824540 [GRCh38]
Chr9:137716386 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4608+18G>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003107005] |
Chr9:134822168 [GRCh38]
Chr9:137714014 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1719+264C>T |
single nucleotide variant |
not provided [RCV001550938] |
Chr9:134752909 [GRCh38]
Chr9:137644755 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3258+292G>A |
single nucleotide variant |
not provided [RCV001577355] |
Chr9:134805506 [GRCh38]
Chr9:137697352 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3690+8_3690+9del |
microsatellite |
Ehlers-Danlos syndrome, classic type, 1 [RCV003107146] |
Chr9:134811605..134811606 [GRCh38]
Chr9:137703451..137703452 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2002G>A (p.Glu668Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001859411]|Familial thoracic aortic aneurysm and aortic dissection [RCV003375343]|not provided [RCV001566628] |
Chr9:134763705 [GRCh38]
Chr9:137655551 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.2661C>A (p.Phe887Leu) |
single nucleotide variant |
not provided [RCV001570203] |
Chr9:134789169 [GRCh38]
Chr9:137681015 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4608+232C>T |
single nucleotide variant |
not provided [RCV001574876] |
Chr9:134822382 [GRCh38]
Chr9:137714228 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2593-273C>A |
single nucleotide variant |
not provided [RCV001570865] |
Chr9:134785722 [GRCh38]
Chr9:137677568 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NC_000009.12:g.134641511C>G |
single nucleotide variant |
not provided [RCV001567995] |
Chr9:134641511 [GRCh38]
Chr9:137533357 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3852+303C>T |
single nucleotide variant |
not provided [RCV001553147] |
Chr9:134813015 [GRCh38]
Chr9:137704861 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3475-208G>T |
single nucleotide variant |
not provided [RCV001617258] |
Chr9:134810047 [GRCh38]
Chr9:137701893 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.277+294C>T |
single nucleotide variant |
not provided [RCV001588333] |
Chr9:134691373 [GRCh38]
Chr9:137583219 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3852+62_3852+69del |
deletion |
not provided [RCV001684454] |
Chr9:134812767..134812774 [GRCh38]
Chr9:137704613..137704620 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3366+52G>A |
single nucleotide variant |
not provided [RCV001614930] |
Chr9:134806348 [GRCh38]
Chr9:137698194 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1828-147G>A |
single nucleotide variant |
not provided [RCV001549859] |
Chr9:134756618 [GRCh38]
Chr9:137648464 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3475-66C>T |
single nucleotide variant |
not provided [RCV001678542] |
Chr9:134810189 [GRCh38]
Chr9:137702035 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2646+126T>C |
single nucleotide variant |
not provided [RCV001666476] |
Chr9:134786174 [GRCh38]
Chr9:137678020 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1828-79T>G |
single nucleotide variant |
not provided [RCV001550062] |
Chr9:134756686 [GRCh38]
Chr9:137648532 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4231-309C>T |
single nucleotide variant |
not provided [RCV001589335] |
Chr9:134818347 [GRCh38]
Chr9:137710193 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2953-153del |
deletion |
not provided [RCV001688521] |
Chr9:134801789 [GRCh38]
Chr9:137693635 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2331+247_2331+265dup |
duplication |
not provided [RCV001723241] |
Chr9:134773069..134773070 [GRCh38]
Chr9:137664915..137664916 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3852+48GT[8] |
microsatellite |
not provided [RCV001659230] |
Chr9:134812759..134812760 [GRCh38]
Chr9:137704605..137704606 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2386-210_2386-209del |
deletion |
not provided [RCV001692738] |
Chr9:134779891..134779892 [GRCh38]
Chr9:137671737..137671738 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.474C>T (p.Ile158=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002070414]|Familial thoracic aortic aneurysm and aortic dissection [RCV002334625]|not provided [RCV001589536] |
Chr9:134700105 [GRCh38]
Chr9:137591951 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3844G>A (p.Gly1282Arg) |
single nucleotide variant |
not provided [RCV001591617] |
Chr9:134812704 [GRCh38]
Chr9:137704550 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1936-119G>T |
single nucleotide variant |
not provided [RCV001672185] |
Chr9:134761806 [GRCh38]
Chr9:137653652 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3367-30G>A |
single nucleotide variant |
not provided [RCV001644065] |
Chr9:134809153 [GRCh38]
Chr9:137700999 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3258+156A>G |
single nucleotide variant |
not provided [RCV001692985] |
Chr9:134805370 [GRCh38]
Chr9:137697216 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1165-68G>A |
single nucleotide variant |
not provided [RCV001562113] |
Chr9:134731428 [GRCh38]
Chr9:137623274 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1081G>A (p.Glu361Lys) |
single nucleotide variant |
not provided [RCV001587070] |
Chr9:134730392 [GRCh38]
Chr9:137622238 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2431-122A>G |
single nucleotide variant |
not provided [RCV001672308] |
Chr9:134782545 [GRCh38]
Chr9:137674391 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2331+109G>A |
single nucleotide variant |
not provided [RCV001557064] |
Chr9:134772943 [GRCh38]
Chr9:137664789 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1663-273_1663-224dup |
duplication |
not provided [RCV001562497] |
Chr9:134752314..134752315 [GRCh38]
Chr9:137644160..137644161 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1990-109C>T |
single nucleotide variant |
not provided [RCV001649349] |
Chr9:134763584 [GRCh38]
Chr9:137655430 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.654+165T>G |
single nucleotide variant |
not provided [RCV001681764] |
Chr9:134701498 [GRCh38]
Chr9:137593344 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2952+216C>T |
single nucleotide variant |
not provided [RCV001557579] |
Chr9:134798677 [GRCh38]
Chr9:137690523 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4068+117A>G |
single nucleotide variant |
not provided [RCV001562732] |
Chr9:134815746 [GRCh38]
Chr9:137707592 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4699-24C>T |
single nucleotide variant |
not provided [RCV001676243] |
Chr9:134824576 [GRCh38]
Chr9:137716422 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1827+134C>T |
single nucleotide variant |
not provided [RCV001587492] |
Chr9:134754460 [GRCh38]
Chr9:137646306 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2484+196T>C |
single nucleotide variant |
not provided [RCV001714426] |
Chr9:134782916 [GRCh38]
Chr9:137674762 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1881+287G>A |
single nucleotide variant |
not provided [RCV001581425] |
Chr9:134757105 [GRCh38]
Chr9:137648951 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.924+293C>G |
single nucleotide variant |
not provided [RCV001544816] |
Chr9:134729100 [GRCh38]
Chr9:137620946 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3258+153C>T |
single nucleotide variant |
not provided [RCV001563217] |
Chr9:134805367 [GRCh38]
Chr9:137697213 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4176+50A>C |
single nucleotide variant |
not provided [RCV001620617] |
Chr9:134817129 [GRCh38]
Chr9:137708975 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4069-43T>A |
single nucleotide variant |
not provided [RCV001589749] |
Chr9:134815892 [GRCh38]
Chr9:137707738 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3475-139A>C |
single nucleotide variant |
not provided [RCV001551919] |
Chr9:134810116 [GRCh38]
Chr9:137701962 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4123-69A>G |
single nucleotide variant |
not provided [RCV001617313] |
Chr9:134816957 [GRCh38]
Chr9:137708803 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4267G>A (p.Gly1423Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001859408]|Familial thoracic aortic aneurysm and aortic dissection [RCV002329675]|not provided [RCV001566054] |
Chr9:134818692 [GRCh38]
Chr9:137710538 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4177-187C>G |
single nucleotide variant |
not provided [RCV001570748] |
Chr9:134817591 [GRCh38]
Chr9:137709437 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4068+87_4068+90del |
deletion |
not provided [RCV001558922] |
Chr9:134815714..134815717 [GRCh38]
Chr9:137707560..137707563 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2646+138G>A |
single nucleotide variant |
not provided [RCV001559050] |
Chr9:134786186 [GRCh38]
Chr9:137678032 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1936-54A>C |
single nucleotide variant |
not provided [RCV001681994] |
Chr9:134761871 [GRCh38]
Chr9:137653717 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.277+82G>A |
single nucleotide variant |
not provided [RCV001590537] |
Chr9:134691161 [GRCh38]
Chr9:137583007 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1663-166G>T |
single nucleotide variant |
not provided [RCV001650566] |
Chr9:134752423 [GRCh38]
Chr9:137644269 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4447-349G>A |
single nucleotide variant |
not provided [RCV001552852] |
Chr9:134819767 [GRCh38]
Chr9:137711613 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1390-306G>C |
single nucleotide variant |
not provided [RCV001552853] |
Chr9:134738168 [GRCh38]
Chr9:137630014 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1936-146T>C |
single nucleotide variant |
not provided [RCV001677149] |
Chr9:134761779 [GRCh38]
Chr9:137653625 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2089-236C>T |
single nucleotide variant |
not provided [RCV001592751] |
Chr9:134766218 [GRCh38]
Chr9:137658064 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2088+231C>G |
single nucleotide variant |
not provided [RCV001716788] |
Chr9:134765965 [GRCh38]
Chr9:137657811 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1936-227C>T |
single nucleotide variant |
not provided [RCV001683850] |
Chr9:134761698 [GRCh38]
Chr9:137653544 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2097G>A (p.Thr699=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235814]|not specified [RCV003331003] |
Chr9:134766462 [GRCh38]
Chr9:137658308 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2907A>G (p.Pro969=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235641] |
Chr9:134798416 [GRCh38]
Chr9:137690262 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4464C>A (p.Ile1488=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV001001203]|Ehlers-Danlos syndrome, classic type, 1 [RCV002235152]|Familial thoracic aortic aneurysm and aortic dissection [RCV003169112] |
Chr9:134820133 [GRCh38]
Chr9:137711979 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2184C>T (p.Ala728=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235657]|Familial thoracic aortic aneurysm and aortic dissection [RCV002427257] |
Chr9:134767050 [GRCh38]
Chr9:137658896 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2706C>T (p.Thr902=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234895]|Familial thoracic aortic aneurysm and aortic dissection [RCV002434066] |
Chr9:134795087 [GRCh38]
Chr9:137686933 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2985C>T (p.Pro995=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758944]|Familial thoracic aortic aneurysm and aortic dissection [RCV002434071] |
Chr9:134801986 [GRCh38]
Chr9:137693832 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.669G>A (p.Gln223=) |
single nucleotide variant |
not provided [RCV000980542] |
Chr9:134727280 [GRCh38]
Chr9:137619126 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2019G>T (p.Gly673=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235481]|Familial thoracic aortic aneurysm and aortic dissection [RCV002416023] |
Chr9:134763722 [GRCh38]
Chr9:137655568 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4392+8A>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000895500] |
Chr9:134818909 [GRCh38]
Chr9:137710755 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1170T>G (p.Ala390=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235492] |
Chr9:134731501 [GRCh38]
Chr9:137623347 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4818C>T (p.Asp1606=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV001081371]|Ehlers-Danlos syndrome, classic type, 1 [RCV002235720]|Familial thoracic aortic aneurysm and aortic dissection [RCV002336965]|not provided [RCV000938298] |
Chr9:134824719 [GRCh38]
Chr9:137716565 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.4464C>T (p.Ile1488=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002236199] |
Chr9:134820133 [GRCh38]
Chr9:137711979 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1377G>A (p.Ala459=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235695]|Familial thoracic aortic aneurysm and aortic dissection [RCV002382117] |
Chr9:134732115 [GRCh38]
Chr9:137623961 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2808C>T (p.Ser936=) |
single nucleotide variant |
COL5A1-related condition [RCV003895279]|Ehlers-Danlos syndrome, classic type, 1 [RCV002538988]|Familial thoracic aortic aneurysm and aortic dissection [RCV003169145] |
Chr9:134796382 [GRCh38]
Chr9:137688228 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.432G>A (p.Thr144=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002539971]|Familial thoracic aortic aneurysm and aortic dissection [RCV003169174] |
Chr9:134700063 [GRCh38]
Chr9:137591909 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5295C>T (p.Arg1765=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594060] |
Chr9:134835129 [GRCh38]
Chr9:137726975 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2188-8C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235774]|not provided [RCV001564906] |
Chr9:134767302 [GRCh38]
Chr9:137659148 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NC_000009.12:g.(?_134782657)_(134842313_?)del |
deletion |
Ehlers-Danlos syndrome, classic type [RCV001032336]|Ehlers-Danlos syndrome, classic type, 1 [RCV001873434] |
Chr9:137674503..137734159 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.5377_5380del (p.Lys1793fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241796] |
Chr9:134842160..134842163 [GRCh38]
Chr9:137734006..137734009 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.453C>G (p.Asp151Glu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241136] |
Chr9:134700084 [GRCh38]
Chr9:137591930 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.2715G>T (p.Lys905Asn) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241543] |
Chr9:134795096 [GRCh38]
Chr9:137686942 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.4(COL5A1):c.2594dup |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240844] |
Chr9:134785993..134785994 [GRCh38]
Chr9:137677839..137677840 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.3060del (p.Gly1021fs) |
deletion |
not provided [RCV001200196] |
Chr9:134802941 [GRCh38]
Chr9:137694787 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.1657G>A (p.Ala553Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241611] |
Chr9:134750877 [GRCh38]
Chr9:137642723 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.2726G>A (p.Arg909Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241425]|Familial thoracic aortic aneurysm and aortic dissection [RCV002429964] |
Chr9:134795107 [GRCh38]
Chr9:137686953 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.3167G>A (p.Arg1056His) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241545] |
Chr9:134805027 [GRCh38]
Chr9:137696873 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.3317G>A (p.Arg1106Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241546] |
Chr9:134806247 [GRCh38]
Chr9:137698093 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3476G>A (p.Gly1159Glu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241550]|not provided [RCV002224038] |
Chr9:134810256 [GRCh38]
Chr9:137702102 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3608G>A (p.Arg1203Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002237126]|not specified [RCV003331030] |
Chr9:134811517 [GRCh38]
Chr9:137703363 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.876dup (p.Ser293fs) |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240620] |
Chr9:134728754..134728755 [GRCh38]
Chr9:137620600..137620601 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NC_000009.12:g.(?_134789143)_(134789218_?)dup |
duplication |
Ehlers-Danlos syndrome, classic type [RCV001033108]|Ehlers-Danlos syndrome, classic type, 1 [RCV001873436] |
Chr9:137680989..137681064 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2998G>A (p.Gly1000Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240931]|not specified [RCV001192884] |
Chr9:134801999 [GRCh38]
Chr9:137693845 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1720-1G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241071] |
Chr9:134753849 [GRCh38]
Chr9:137645695 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.5041G>A (p.Val1681Ile) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240173] |
Chr9:134825878 [GRCh38]
Chr9:137717724 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.2731C>T (p.Gln911Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 2 [RCV001196398] |
Chr9:134795112 [GRCh38]
Chr9:137686958 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.1978G>A (p.Asp660Asn) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240998] |
Chr9:134761967 [GRCh38]
Chr9:137653813 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.1780C>G (p.Arg594Gly) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 2 [RCV001196833] |
Chr9:134754279 [GRCh38]
Chr9:137646125 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3114+1G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV001221478] |
Chr9:134802996 [GRCh38]
Chr9:137694842 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.459C>T (p.Pro153=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000913326] |
Chr9:134700090 [GRCh38]
Chr9:137591936 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2035-10C>T |
single nucleotide variant |
not provided [RCV000911149] |
Chr9:134765671 [GRCh38]
Chr9:137657517 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4962C>T (p.Tyr1654=) |
single nucleotide variant |
COL5A1-related condition [RCV003923191]|not provided [RCV000913458] |
Chr9:134825799 [GRCh38]
Chr9:137717645 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2019G>C (p.Gly673=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002544472]|Familial thoracic aortic aneurysm and aortic dissection [RCV002416174] |
Chr9:134763722 [GRCh38]
Chr9:137655568 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5421G>A (p.Val1807=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594061] |
Chr9:134842207 [GRCh38]
Chr9:137734053 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1230G>A (p.Arg410=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002542290]|Familial thoracic aortic aneurysm and aortic dissection [RCV003307719] |
Chr9:134731561 [GRCh38]
Chr9:137623407 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.364G>A (p.Glu122Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595386] |
Chr9:134699995 [GRCh38]
Chr9:137591841 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3367-4C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235795] |
Chr9:134809179 [GRCh38]
Chr9:137701025 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2970C>G (p.Thr990=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235652] |
Chr9:134801971 [GRCh38]
Chr9:137693817 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2187+106A>T |
single nucleotide variant |
not provided [RCV001537433] |
Chr9:134767159 [GRCh38]
Chr9:137659005 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.5136+152C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002501897]|not provided [RCV001556613] |
Chr9:134830196 [GRCh38]
Chr9:137722042 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.4230+219A>G |
single nucleotide variant |
not provided [RCV001562090] |
Chr9:134818050 [GRCh38]
Chr9:137709896 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1284G>A (p.Ser428=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001882683]|Familial thoracic aortic aneurysm and aortic dissection [RCV002386466]|not provided [RCV001572122] |
Chr9:134731615 [GRCh38]
Chr9:137623461 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5136+192G>A |
single nucleotide variant |
not provided [RCV001564968] |
Chr9:134830236 [GRCh38]
Chr9:137722082 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1662+134T>C |
single nucleotide variant |
not provided [RCV001656830] |
Chr9:134751016 [GRCh38]
Chr9:137642862 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4230+212C>T |
single nucleotide variant |
not provided [RCV001621008] |
Chr9:134818043 [GRCh38]
Chr9:137709889 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4645-13T>G |
single nucleotide variant |
not provided [RCV001557181] |
Chr9:134823403 [GRCh38]
Chr9:137715249 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.655-328G>T |
single nucleotide variant |
not provided [RCV001557532] |
Chr9:134726938 [GRCh38]
Chr9:137618784 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.110-148C>T |
single nucleotide variant |
not provided [RCV001575219] |
Chr9:134690764 [GRCh38]
Chr9:137582610 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1433G>C (p.Gly478Ala) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002470662] |
Chr9:134738747 [GRCh38]
Chr9:137630593 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.4084C>T (p.Pro1362Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003771707]|not provided [RCV001558492] |
Chr9:134815950 [GRCh38]
Chr9:137707796 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4954+128A>G |
single nucleotide variant |
not provided [RCV001563442] |
Chr9:134824983 [GRCh38]
Chr9:137716829 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4011C>T (p.Ser1337=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002072109]|not provided [RCV001558547] |
Chr9:134814901 [GRCh38]
Chr9:137706747 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2134-182G>C |
single nucleotide variant |
not provided [RCV001558617] |
Chr9:134766818 [GRCh38]
Chr9:137658664 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4954+230C>T |
single nucleotide variant |
not provided [RCV001593701] |
Chr9:134825085 [GRCh38]
Chr9:137716931 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.324C>T (p.Ala108=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002571165]|Familial thoracic aortic aneurysm and aortic dissection [RCV003298941]|not provided [RCV001581907] |
Chr9:134699955 [GRCh38]
Chr9:137591801 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.787-41G>A |
single nucleotide variant |
not provided [RCV001593774] |
Chr9:134728629 [GRCh38]
Chr9:137620475 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.277+74A>G |
single nucleotide variant |
not provided [RCV001641191] |
Chr9:134691153 [GRCh38]
Chr9:137582999 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3852+47_3852+48del |
deletion |
not provided [RCV001641391] |
Chr9:134812758..134812759 [GRCh38]
Chr9:137704604..137704605 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4167A>G (p.Pro1389=) |
single nucleotide variant |
not provided [RCV001552783] |
Chr9:134817070 [GRCh38]
Chr9:137708916 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4609-34G>A |
single nucleotide variant |
not provided [RCV001559587] |
Chr9:134822964 [GRCh38]
Chr9:137714810 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1663-159_1663-158del |
deletion |
not provided [RCV001682124] |
Chr9:134752420..134752421 [GRCh38]
Chr9:137644266..137644267 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.5136+121C>T |
single nucleotide variant |
not provided [RCV001565589] |
Chr9:134830165 [GRCh38]
Chr9:137722011 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3691-213T>C |
single nucleotide variant |
not provided [RCV001678322] |
Chr9:134812236 [GRCh38]
Chr9:137704082 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4554+105C>T |
single nucleotide variant |
not provided [RCV001568663] |
Chr9:134820328 [GRCh38]
Chr9:137712174 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2953-46C>T |
single nucleotide variant |
not provided [RCV001555157] |
Chr9:134801908 [GRCh38]
Chr9:137693754 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.491+124C>T |
single nucleotide variant |
not provided [RCV001546379] |
Chr9:134700246 [GRCh38]
Chr9:137592092 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3379_3382del (p.Pro1127fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV003234846] |
Chr9:134809194..134809197 [GRCh38]
Chr9:137701040..137701043 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.5137-104C>T |
single nucleotide variant |
not provided [RCV001689350] |
Chr9:134834867 [GRCh38]
Chr9:137726713 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.5351C>A (p.Ala1784Asp) |
single nucleotide variant |
not provided [RCV003230206] |
Chr9:134835185 [GRCh38]
Chr9:137727031 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1431+6T>G |
single nucleotide variant |
not provided [RCV001550493] |
Chr9:134738521 [GRCh38]
Chr9:137630367 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5136+55A>G |
single nucleotide variant |
COL5A1-related condition [RCV003910899]|not provided [RCV001574398] |
Chr9:134830099 [GRCh38]
Chr9:137721945 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1165-43G>A |
single nucleotide variant |
not provided [RCV001594538] |
Chr9:134731453 [GRCh38]
Chr9:137623299 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4230+13G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003106569] |
Chr9:134817844 [GRCh38]
Chr9:137709690 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.491+208T>A |
single nucleotide variant |
not provided [RCV001716951] |
Chr9:134700330 [GRCh38]
Chr9:137592176 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3006+179C>A |
single nucleotide variant |
not provided [RCV001655395] |
Chr9:134802186 [GRCh38]
Chr9:137694032 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3528+155G>A |
single nucleotide variant |
not provided [RCV001651892] |
Chr9:134810463 [GRCh38]
Chr9:137702309 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2826T>C (p.Ala942=) |
single nucleotide variant |
not provided [RCV001538601] |
Chr9:134796400 [GRCh38]
Chr9:137688246 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5371-46C>T |
single nucleotide variant |
not provided [RCV001592729] |
Chr9:134842111 [GRCh38]
Chr9:137733957 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2331+140G>A |
single nucleotide variant |
not provided [RCV001660901] |
Chr9:134772974 [GRCh38]
Chr9:137664820 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3691-237T>A |
single nucleotide variant |
not provided [RCV001655973] |
Chr9:134812212 [GRCh38]
Chr9:137704058 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4176+163T>A |
single nucleotide variant |
not provided [RCV001688151] |
Chr9:134817242 [GRCh38]
Chr9:137709088 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.5068-177C>A |
single nucleotide variant |
not provided [RCV001660881] |
Chr9:134829799 [GRCh38]
Chr9:137721645 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2386-134A>G |
single nucleotide variant |
not provided [RCV001660889] |
Chr9:134779968 [GRCh38]
Chr9:137671814 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2233-21G>C |
single nucleotide variant |
not provided [RCV001580933] |
Chr9:134768389 [GRCh38]
Chr9:137660235 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4122+108T>C |
single nucleotide variant |
not provided [RCV001641392] |
Chr9:134816096 [GRCh38]
Chr9:137707942 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3852+224G>A |
single nucleotide variant |
not provided [RCV001715192] |
Chr9:134812936 [GRCh38]
Chr9:137704782 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4231-240G>A |
single nucleotide variant |
not provided [RCV001637447] |
Chr9:134818416 [GRCh38]
Chr9:137710262 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.405T>C (p.Ser135=) |
single nucleotide variant |
not provided [RCV001587584] |
Chr9:134700036 [GRCh38]
Chr9:137591882 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4608+195G>A |
single nucleotide variant |
not provided [RCV001676534] |
Chr9:134822345 [GRCh38]
Chr9:137714191 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4609-269dup |
duplication |
not provided [RCV001673967] |
Chr9:134822728..134822729 [GRCh38]
Chr9:137714574..137714575 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3529-60C>G |
single nucleotide variant |
not provided [RCV001637684] |
Chr9:134811279 [GRCh38]
Chr9:137703125 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4068+28G>A |
single nucleotide variant |
not provided [RCV001575409] |
Chr9:134815657 [GRCh38]
Chr9:137707503 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5281G>A (p.Asp1761Asn) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001882707]|not provided [RCV001591596] |
Chr9:134835115 [GRCh38]
Chr9:137726961 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.2034+154G>A |
single nucleotide variant |
not provided [RCV001676889] |
Chr9:134763891 [GRCh38]
Chr9:137655737 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2134-124G>A |
single nucleotide variant |
not provided [RCV001620822] |
Chr9:134766876 [GRCh38]
Chr9:137658722 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2287-203C>T |
single nucleotide variant |
not provided [RCV001598976] |
Chr9:134772587 [GRCh38]
Chr9:137664433 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4446+62G>A |
single nucleotide variant |
not provided [RCV001635885] |
Chr9:134819115 [GRCh38]
Chr9:137710961 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1663-160_1663-158del |
deletion |
not provided [RCV001654181] |
Chr9:134752420..134752422 [GRCh38]
Chr9:137644266..137644268 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3475-179A>C |
single nucleotide variant |
not provided [RCV001656460] |
Chr9:134810076 [GRCh38]
Chr9:137701922 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2592+75G>A |
single nucleotide variant |
not provided [RCV001599003] |
Chr9:134785171 [GRCh38]
Chr9:137677017 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2430+41C>T |
single nucleotide variant |
not provided [RCV001596557] |
Chr9:134780187 [GRCh38]
Chr9:137672033 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3528+55G>A |
single nucleotide variant |
not provided [RCV001678410] |
Chr9:134810363 [GRCh38]
Chr9:137702209 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.110-1G>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240572] |
Chr9:134690911 [GRCh38]
Chr9:137582757 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.4477C>T (p.Pro1493Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002237113] |
Chr9:134820146 [GRCh38]
Chr9:137711992 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5386C>T (p.Gln1796Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV001027819]|Ehlers-Danlos syndrome, classic type, 1 [RCV001873429]|Ehlers-Danlos syndrome, classic type, 1 [RCV003224809] |
Chr9:134842172 [GRCh38]
Chr9:137734018 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic |
| NM_000093.5(COL5A1):c.4476TCC[1] (p.Pro1494del) |
microsatellite |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240161] |
Chr9:134820145..134820147 [GRCh38]
Chr9:137711991..137711993 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic |
| NM_000093.5(COL5A1):c.1828-3C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240562]|Familial thoracic aortic aneurysm and aortic dissection [RCV002411606] |
Chr9:134756762 [GRCh38]
Chr9:137648608 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.374T>G (p.Ile125Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240996] |
Chr9:134700005 [GRCh38]
Chr9:137591851 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4554+102C>T |
single nucleotide variant |
not provided [RCV001588467] |
Chr9:134820325 [GRCh38]
Chr9:137712171 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4955-139C>G |
single nucleotide variant |
not provided [RCV001669103] |
Chr9:134825653 [GRCh38]
Chr9:137717499 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2592+148T>G |
single nucleotide variant |
not provided [RCV001685822] |
Chr9:134785244 [GRCh38]
Chr9:137677090 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4446+298G>A |
single nucleotide variant |
not provided [RCV001541663] |
Chr9:134819351 [GRCh38]
Chr9:137711197 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1663-170_1663-169insA |
insertion |
not provided [RCV001645828] |
Chr9:134752419..134752420 [GRCh38]
Chr9:137644265..137644266 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1663-160G>T |
single nucleotide variant |
not provided [RCV001695390] |
Chr9:134752429 [GRCh38]
Chr9:137644275 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2386-174C>T |
single nucleotide variant |
not provided [RCV001685019] |
Chr9:134779928 [GRCh38]
Chr9:137671774 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4465G>A (p.Gly1489Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240316] |
Chr9:134820134 [GRCh38]
Chr9:137711980 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.1432-32T>C |
single nucleotide variant |
not provided [RCV001614148] |
Chr9:134738714 [GRCh38]
Chr9:137630560 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1989+182C>T |
single nucleotide variant |
not provided [RCV001589515] |
Chr9:134762160 [GRCh38]
Chr9:137654006 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4837G>A (p.Gly1613Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002239270] |
Chr9:134824738 [GRCh38]
Chr9:137716584 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.2485-40C>T |
single nucleotide variant |
not provided [RCV001647781] |
Chr9:134784949 [GRCh38]
Chr9:137676795 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.655-219GGAT[7] |
microsatellite |
not provided [RCV001670655] |
Chr9:134727047..134727050 [GRCh38]
Chr9:137618893..137618896 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1663-237G>A |
single nucleotide variant |
not provided [RCV001690138] |
Chr9:134752352 [GRCh38]
Chr9:137644198 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2700+187T>C |
single nucleotide variant |
not provided [RCV001586382] |
Chr9:134789395 [GRCh38]
Chr9:137681241 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2953-153dup |
duplication |
not provided [RCV001652161] |
Chr9:134801788..134801789 [GRCh38]
Chr9:137693634..137693635 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.5136+373G>A |
single nucleotide variant |
not provided [RCV001609983] |
Chr9:134830417 [GRCh38]
Chr9:137722263 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3725C>T (p.Thr1242Ile) |
single nucleotide variant |
not provided [RCV001703363] |
Chr9:134812483 [GRCh38]
Chr9:137704329 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4230+77G>A |
single nucleotide variant |
not provided [RCV001583037] |
Chr9:134817908 [GRCh38]
Chr9:137709754 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4609-281T>G |
single nucleotide variant |
not provided [RCV001585413] |
Chr9:134822717 [GRCh38]
Chr9:137714563 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3873T>A (p.Gly1291=) |
single nucleotide variant |
not provided [RCV001707946] |
Chr9:134814003 [GRCh38]
Chr9:137705849 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1935+75C>T |
single nucleotide variant |
not provided [RCV001587828] |
Chr9:134758371 [GRCh38]
Chr9:137650217 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3905C>G (p.Pro1302Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003771769]|Familial thoracic aortic aneurysm and aortic dissection [RCV002370225]|not provided [RCV001584938] |
Chr9:134814035 [GRCh38]
Chr9:137705881 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3528+95G>A |
single nucleotide variant |
not provided [RCV001713479] |
Chr9:134810403 [GRCh38]
Chr9:137702249 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2485-33T>G |
single nucleotide variant |
not provided [RCV001648426] |
Chr9:134784956 [GRCh38]
Chr9:137676802 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1569+27G>C |
single nucleotide variant |
not provided [RCV001690290] |
Chr9:134750643 [GRCh38]
Chr9:137642489 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.590C>T (p.Pro197Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240212] |
Chr9:134701269 [GRCh38]
Chr9:137593115 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1773+146G>A |
single nucleotide variant |
not provided [RCV001583546] |
Chr9:134754049 [GRCh38]
Chr9:137645895 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1494+129del |
deletion |
not provided [RCV001615974] |
Chr9:134738932 [GRCh38]
Chr9:137630778 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3746G>C (p.Gly1249Ala) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001859409]|not provided [RCV001566131] |
Chr9:134812606 [GRCh38]
Chr9:137704452 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2799+112dup |
duplication |
not provided [RCV001685659] |
Chr9:134795412..134795413 [GRCh38]
Chr9:137687258..137687259 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.592A>G (p.Met198Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240571]|not provided [RCV001759847] |
Chr9:134701271 [GRCh38]
Chr9:137593117 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3744+47G>A |
single nucleotide variant |
not provided [RCV001582135] |
Chr9:134812549 [GRCh38]
Chr9:137704395 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4609-279dup |
duplication |
not provided [RCV001710050] |
Chr9:134822718..134822719 [GRCh38]
Chr9:137714564..137714565 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2431-172T>C |
single nucleotide variant |
not provided [RCV001650623] |
Chr9:134782495 [GRCh38]
Chr9:137674341 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4110A>G (p.Glu1370=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240633] |
Chr9:134815976 [GRCh38]
Chr9:137707822 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1828-263G>A |
single nucleotide variant |
not provided [RCV001585115] |
Chr9:134756502 [GRCh38]
Chr9:137648348 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2898+179C>T |
single nucleotide variant |
not provided [RCV001614851] |
Chr9:134797080 [GRCh38]
Chr9:137688926 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4698+136G>A |
single nucleotide variant |
not provided [RCV001583950] |
Chr9:134823605 [GRCh38]
Chr9:137715451 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4644+40G>C |
single nucleotide variant |
not provided [RCV001590139] |
Chr9:134823073 [GRCh38]
Chr9:137714919 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5136+77G>A |
single nucleotide variant |
not provided [RCV001567424] |
Chr9:134830121 [GRCh38]
Chr9:137721967 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.655-186_655-185insACGGATGGATGG |
microsatellite |
not provided [RCV001614989] |
Chr9:134727070..134727071 [GRCh38]
Chr9:137618916..137618917 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.5371-66T>G |
single nucleotide variant |
not provided [RCV001671672] |
Chr9:134842091 [GRCh38]
Chr9:137733937 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.849del (p.Glu284fs) |
deletion |
Ehlers-Danlos syndrome, classic type [RCV001003518]|Ehlers-Danlos syndrome, classic type, 1 [RCV002549215] |
Chr9:134728729 [GRCh38]
Chr9:137620575 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic |
| NM_000093.5(COL5A1):c.5411C>G (p.Thr1804Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241060] |
Chr9:134842197 [GRCh38]
Chr9:137734043 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1989+1G>A |
single nucleotide variant |
not provided [RCV001090698] |
Chr9:134761979 [GRCh38]
Chr9:137653825 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.4198C>T (p.Pro1400Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241270]|not provided [RCV001836971] |
Chr9:134817799 [GRCh38]
Chr9:137709645 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.4815G>A (p.Ala1605=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240978]|Familial thoracic aortic aneurysm and aortic dissection [RCV002339531] |
Chr9:134824716 [GRCh38]
Chr9:137716562 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.3227A>G (p.Asn1076Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240262]|Familial thoracic aortic aneurysm and aortic dissection [RCV003307880] |
Chr9:134805183 [GRCh38]
Chr9:137697029 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.1115C>A (p.Ala372Asp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241225] |
Chr9:134730426 [GRCh38]
Chr9:137622272 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.808G>A (p.Gly270Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 2 [RCV001197172] |
Chr9:134728691 [GRCh38]
Chr9:137620537 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.*479G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV001167596] |
Chr9:134842782 [GRCh38]
Chr9:137734628 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3612C>T (p.Gly1204=) |
single nucleotide variant |
not provided [RCV001091218] |
Chr9:134811521 [GRCh38]
Chr9:137703367 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.265C>T (p.Gln89Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240232] |
Chr9:134691067 [GRCh38]
Chr9:137582913 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.1190C>T (p.Ala397Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241441] |
Chr9:134731521 [GRCh38]
Chr9:137623367 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.4050dup (p.Gly1351fs) |
duplication |
Ehlers-Danlos syndrome [RCV003398984]|Ehlers-Danlos syndrome, classic type, 1 [RCV002241442]|Familial thoracic aortic aneurysm and aortic dissection [RCV002322109] |
Chr9:134815604..134815605 [GRCh38]
Chr9:137707450..137707451 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic |
| NM_000093.5(COL5A1):c.*865T>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV001168224] |
Chr9:134843168 [GRCh38]
Chr9:137735014 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2735G>A (p.Arg912Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240489] |
Chr9:134795116 [GRCh38]
Chr9:137686962 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.196C>T (p.Arg66Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241567]|Ehlers-Danlos syndrome, classic type, 1 [RCV002499430] |
Chr9:134690998 [GRCh38]
Chr9:137582844 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic |
| NM_000093.5(COL5A1):c.1662+1G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002239384] |
Chr9:134750883 [GRCh38]
Chr9:137642729 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.5164C>A (p.Pro1722Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002237127] |
Chr9:134834998 [GRCh38]
Chr9:137726844 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.*187C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV001168916] |
Chr9:134842490 [GRCh38]
Chr9:137734336 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1094_1095del (p.Asp365fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240355] |
Chr9:134730405..134730406 [GRCh38]
Chr9:137622251..137622252 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.2992G>A (p.Val998Met) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241277]|not provided [RCV001760206] |
Chr9:134801993 [GRCh38]
Chr9:137693839 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.5426A>C (p.Gln1809Pro) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241055] |
Chr9:134842212 [GRCh38]
Chr9:137734058 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3040C>T (p.Arg1014Cys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001537854]|not provided [RCV001776111] |
Chr9:134802921 [GRCh38]
Chr9:137694767 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance|not provided |
| NM_000093.5(COL5A1):c.5350G>T (p.Ala1784Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240357] |
Chr9:134835184 [GRCh38]
Chr9:137727030 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.26C>A (p.Ala9Glu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001258198]|not provided [RCV003442797] |
Chr9:134642213 [GRCh38]
Chr9:137534059 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.197G>A (p.Arg66Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241116] |
Chr9:134690999 [GRCh38]
Chr9:137582845 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.1691T>A (p.Met564Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241234] |
Chr9:134752617 [GRCh38]
Chr9:137644463 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.3874G>A (p.Glu1292Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV003328478]|Ehlers-Danlos syndrome, classic type, 1 [RCV002241582] |
Chr9:134814004 [GRCh38]
Chr9:137705850 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|uncertain significance |
| NM_000093.5(COL5A1):c.2264T>G (p.Met755Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241108] |
Chr9:134768441 [GRCh38]
Chr9:137660287 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.1989+1G>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241802] |
Chr9:134761979 [GRCh38]
Chr9:137653825 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.5293dup (p.Arg1765fs) |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV002239299] |
Chr9:134835125..134835126 [GRCh38]
Chr9:137726971..137726972 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.4955G>A (p.Gly1652Asp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240421] |
Chr9:134825792 [GRCh38]
Chr9:137717638 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5413C>T (p.Pro1805Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240422] |
Chr9:134842199 [GRCh38]
Chr9:137734045 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1130C>A (p.Pro377His) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240933] |
Chr9:134730441 [GRCh38]
Chr9:137622287 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1114G>T (p.Ala372Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002237115] |
Chr9:134730425 [GRCh38]
Chr9:137622271 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.4814C>G (p.Ala1605Gly) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240512] |
Chr9:134824715 [GRCh38]
Chr9:137716561 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.*489A>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV001167597] |
Chr9:134842792 [GRCh38]
Chr9:137734638 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.5512G>A (p.Gly1838Ser) |
single nucleotide variant |
not provided [RCV001091220] |
Chr9:134842298 [GRCh38]
Chr9:137734144 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4568C>A (p.Pro1523His) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240338]|not provided [RCV001759803] |
Chr9:134822110 [GRCh38]
Chr9:137713956 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1409C>T (p.Pro470Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241348] |
Chr9:134738493 [GRCh38]
Chr9:137630339 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.1441G>A (p.Gly481Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV001213713] |
Chr9:134738755 [GRCh38]
Chr9:137630601 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.432G>T (p.Thr144=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV001167271]|Familial thoracic aortic aneurysm and aortic dissection [RCV002327417] |
Chr9:134700063 [GRCh38]
Chr9:137591909 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2986C>T (p.Pro996Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241212] |
Chr9:134801987 [GRCh38]
Chr9:137693833 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.868C>G (p.Pro290Ala) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 2 [RCV001196360] |
Chr9:134728751 [GRCh38]
Chr9:137620597 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1949C>T (p.Pro650Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240187] |
Chr9:134761938 [GRCh38]
Chr9:137653784 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5068-9C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240494] |
Chr9:134829967 [GRCh38]
Chr9:137721813 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.1432G>T (p.Gly478Cys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240222] |
Chr9:134738746 [GRCh38]
Chr9:137630592 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.3382C>A (p.Gln1128Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240945] |
Chr9:134809198 [GRCh38]
Chr9:137701044 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2187+6T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241562] |
Chr9:134767059 [GRCh38]
Chr9:137658905 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1011C>G (p.Asp337Glu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002239287]|not provided [RCV001593199] |
Chr9:134730322 [GRCh38]
Chr9:137622168 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.1495-7T>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002560231]|Ehlers-Danlos syndrome, classic type, 2 [RCV001197211] |
Chr9:134750535 [GRCh38]
Chr9:137642381 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.5195G>A (p.Arg1732Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240200] |
Chr9:134835029 [GRCh38]
Chr9:137726875 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.4368C>T (p.Gly1456=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240506] |
Chr9:134818877 [GRCh38]
Chr9:137710723 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2553del (p.Asn852fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240508] |
Chr9:134785055 [GRCh38]
Chr9:137676901 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.2593-252G>T |
single nucleotide variant |
not provided [RCV001564768] |
Chr9:134785743 [GRCh38]
Chr9:137677589 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3389C>T (p.Pro1130Leu) |
single nucleotide variant |
not provided [RCV001545521] |
Chr9:134809205 [GRCh38]
Chr9:137701051 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| GRCh37/hg19 9q34.3(chr9:137616092-137781956)x3 |
copy number gain |
not provided [RCV001259534] |
Chr9:137616092..137781956 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.4(COL5A1):c.3369_3431dup |
duplication |
Ehlers-Danlos syndrome, classic type [RCV001257136] |
Chr9:134809181..134809182 [GRCh38]
Chr9:137701027..137701028 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.2952+109_2952+192del |
deletion |
not provided [RCV001663122] |
Chr9:134798570..134798653 [GRCh38]
Chr9:137690416..137690499 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1060G>A (p.Asp354Asn) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001258200] |
Chr9:134730371 [GRCh38]
Chr9:137622217 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.384del (p.Ile128fs) |
deletion |
Ehlers-Danlos syndrome, classic type [RCV001262886] |
Chr9:134700014 [GRCh38]
Chr9:137591860 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.77_85del (p.Leu26_Trp29delinsArg) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV001880129]|Familial thoracic aortic aneurysm and aortic dissection [RCV002402806]|Inborn genetic diseases [RCV001266992] |
Chr9:134642264..134642272 [GRCh38]
Chr9:137534110..137534118 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1715C>A (p.Pro572His) |
single nucleotide variant |
Abnormal bleeding [RCV001270602] |
Chr9:134752641 [GRCh38]
Chr9:137644487 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3605C>T (p.Pro1202Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001258204]|Familial thoracic aortic aneurysm and aortic dissection [RCV002451628] |
Chr9:134811514 [GRCh38]
Chr9:137703360 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NC_000009.11:g.(?_137680989)_(137681064_?)dup |
duplication |
Ehlers-Danlos syndrome, classic type [RCV001303758] |
Chr9:137680989..137681064 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1043C>T (p.Thr348Met) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002284964] |
Chr9:134730354 [GRCh38]
Chr9:137622200 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.1544C>T (p.Pro515Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV001262920] |
Chr9:134750591 [GRCh38]
Chr9:137642437 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1111G>A (p.Gly371Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001258201] |
Chr9:134730422 [GRCh38]
Chr9:137622268 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3326C>A (p.Pro1109His) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241934]|not provided [RCV002224055] |
Chr9:134806256 [GRCh38]
Chr9:137698102 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.729C>G (p.Asp243Glu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242281] |
Chr9:134727340 [GRCh38]
Chr9:137619186 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3484G>A (p.Gly1162Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242023] |
Chr9:134810264 [GRCh38]
Chr9:137702110 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.5393C>T (p.Thr1798Met) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241977]|not provided [RCV001537164] |
Chr9:134842179 [GRCh38]
Chr9:137734025 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.1943C>G (p.Pro648Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241983] |
Chr9:134761932 [GRCh38]
Chr9:137653778 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.1387C>T (p.Pro463Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241893]|not provided [RCV001566911] |
Chr9:134732125 [GRCh38]
Chr9:137623971 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5137-8C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV001280964]|Ehlers-Danlos syndrome, classic type, 1 [RCV002241658]|Ehlers-Danlos syndrome, classic type, 1 [RCV003224541] |
Chr9:134834963 [GRCh38]
Chr9:137726809 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.2388G>T (p.Gly796=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241762] |
Chr9:134780104 [GRCh38]
Chr9:137671950 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.2844G>A (p.Arg948=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242681]|not provided [RCV003227964] |
Chr9:134796418 [GRCh38]
Chr9:137688264 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4805_4813del (p.Val1602_Tyr1604del) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242485] |
Chr9:134824700..134824708 [GRCh38]
Chr9:137716546..137716554 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4795G>A (p.Glu1599Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241822]|Ehlers-Danlos syndrome, classic type, 1 [RCV002486129]|not provided [RCV001751563] |
Chr9:134824696 [GRCh38]
Chr9:137716542 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.4644+4A>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242088] |
Chr9:134823037 [GRCh38]
Chr9:137714883 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5372C>A (p.Thr1791Asn) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241753]|not provided [RCV001776179] |
Chr9:134842158 [GRCh38]
Chr9:137734004 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4049C>T (p.Pro1350Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241823] |
Chr9:134815610 [GRCh38]
Chr9:137707456 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.629G>A (p.Arg210Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241907]|not provided [RCV001310681] |
Chr9:134701308 [GRCh38]
Chr9:137593154 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.3064C>T (p.Pro1022Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242667]|not provided [RCV003328678] |
Chr9:134802945 [GRCh38]
Chr9:137694791 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.5099C>T (p.Pro1700Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242707] |
Chr9:134830007 [GRCh38]
Chr9:137721853 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.1886A>G (p.Asp629Gly) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242752] |
Chr9:134758247 [GRCh38]
Chr9:137650093 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.342C>G (p.Ala114=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002243078] |
Chr9:134699973 [GRCh38]
Chr9:137591819 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.74T>G (p.Leu25Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242632] |
Chr9:134642261 [GRCh38]
Chr9:137534107 [GRCh37]
Chr9:9q34.3 |
pathogenic|uncertain significance |
| NM_000093.5(COL5A1):c.544G>A (p.Asp182Asn) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242740] |
Chr9:134701223 [GRCh38]
Chr9:137593069 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.702T>C (p.Tyr234=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242944] |
Chr9:134727313 [GRCh38]
Chr9:137619159 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4522C>T (p.Pro1508Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242867] |
Chr9:134820191 [GRCh38]
Chr9:137712037 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.3852+62C>G |
single nucleotide variant |
not provided [RCV001538151] |
Chr9:134812774 [GRCh38]
Chr9:137704620 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2146G>A (p.Glu716Lys) |
single nucleotide variant |
Abnormal bleeding [RCV001270542] |
Chr9:134767012 [GRCh38]
Chr9:137658858 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5411C>A (p.Thr1804Asn) |
single nucleotide variant |
Abnormal bleeding [RCV001270554] |
Chr9:134842197 [GRCh38]
Chr9:137734043 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4088del (p.Gly1363fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242811] |
Chr9:134815953 [GRCh38]
Chr9:137707799 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.2430+7C>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002243011] |
Chr9:134780153 [GRCh38]
Chr9:137671999 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3631C>T (p.Gln1211Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242814] |
Chr9:134811540 [GRCh38]
Chr9:137703386 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.3296G>C (p.Gly1099Ala) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242442] |
Chr9:134806226 [GRCh38]
Chr9:137698072 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.601A>C (p.Ile201Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242652] |
Chr9:134701280 [GRCh38]
Chr9:137593126 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.2653A>G (p.Ile885Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001333202] |
Chr9:134789161 [GRCh38]
Chr9:137681007 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.3007-14G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001333203] |
Chr9:134802874 [GRCh38]
Chr9:137694720 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4754G>T (p.Arg1585Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242070] |
Chr9:134824655 [GRCh38]
Chr9:137716501 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.838T>G (p.Tyr280Asp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242097] |
Chr9:134728721 [GRCh38]
Chr9:137620567 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4201G>A (p.Glu1401Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242757] |
Chr9:134817802 [GRCh38]
Chr9:137709648 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NC_000009.11:g.(?_137619102)_(137619253_?)del |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242580] |
Chr9:137619102..137619253 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NC_000009.11:g.(?_137534028)_(137534148_?)dup |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242719] |
Chr9:137534028..137534148 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4537G>A (p.Gly1513Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241962] |
Chr9:134820206 [GRCh38]
Chr9:137712052 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.386G>A (p.Gly129Glu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242102] |
Chr9:134700017 [GRCh38]
Chr9:137591863 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3067C>A (p.Pro1023Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242118] |
Chr9:134802948 [GRCh38]
Chr9:137694794 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NC_000009.11:g.(?_137619092)_(137620673_?)del |
deletion |
Ehlers-Danlos syndrome, classic type [RCV001318730] |
Chr9:137619092..137620673 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1000G>A (p.Gly334Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242536] |
Chr9:134730311 [GRCh38]
Chr9:137622157 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.2392G>A (p.Asp798Asn) |
single nucleotide variant |
not provided [RCV001357731] |
Chr9:134780108 [GRCh38]
Chr9:137671954 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2262A>T (p.Gly754=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242086] |
Chr9:134768439 [GRCh38]
Chr9:137660285 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3947C>G (p.Pro1316Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241943]|Familial thoracic aortic aneurysm and aortic dissection [RCV002357132]|not provided [RCV003153987] |
Chr9:134814837 [GRCh38]
Chr9:137706683 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.3310C>T (p.Pro1104Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241881] |
Chr9:134806240 [GRCh38]
Chr9:137698086 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4504G>A (p.Asp1502Asn) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241968] |
Chr9:134820173 [GRCh38]
Chr9:137712019 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2041C>T (p.Arg681Cys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241681] |
Chr9:134765687 [GRCh38]
Chr9:137657533 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1067C>T (p.Thr356Ile) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241944] |
Chr9:134730378 [GRCh38]
Chr9:137622224 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.4262A>T (p.Lys1421Met) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242111] |
Chr9:134818687 [GRCh38]
Chr9:137710533 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4892C>A (p.Thr1631Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242009]|not provided [RCV001760340] |
Chr9:134824793 [GRCh38]
Chr9:137716639 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.1172C>T (p.Pro391Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241886] |
Chr9:134731503 [GRCh38]
Chr9:137623349 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.4157C>T (p.Ser1386Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241720]|Familial thoracic aortic aneurysm and aortic dissection [RCV002327639] |
Chr9:134817060 [GRCh38]
Chr9:137708906 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.2950A>T (p.Thr984Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242112] |
Chr9:134798459 [GRCh38]
Chr9:137690305 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4064C>T (p.Pro1355Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242524]|Ehlers-Danlos syndrome, classic type, 2 [RCV003483824] |
Chr9:134815625 [GRCh38]
Chr9:137707471 [GRCh37]
Chr9:9q34.3 |
uncertain significance|not provided |
| NM_000093.5(COL5A1):c.3617A>G (p.Gln1206Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241888] |
Chr9:134811526 [GRCh38]
Chr9:137703372 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4786G>A (p.Gly1596Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242280] |
Chr9:134824687 [GRCh38]
Chr9:137716533 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1431+5G>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241724] |
Chr9:134738520 [GRCh38]
Chr9:137630366 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5029G>A (p.Gly1677Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242756] |
Chr9:134825866 [GRCh38]
Chr9:137717712 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.3961G>A (p.Gly1321Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241725] |
Chr9:134814851 [GRCh38]
Chr9:137706697 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.364G>C (p.Glu122Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242022] |
Chr9:134699995 [GRCh38]
Chr9:137591841 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1717G>A (p.Val573Met) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242115] |
Chr9:134752643 [GRCh38]
Chr9:137644489 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3856G>A (p.Glu1286Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242566]|Familial thoracic aortic aneurysm and aortic dissection [RCV002357240]|not provided [RCV001776225] |
Chr9:134813986 [GRCh38]
Chr9:137705832 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.5136+68_5136+73delinsT |
indel |
Ehlers-Danlos syndrome, classic type, 1 [RCV001328773] |
Chr9:134830112..134830117 [GRCh38]
Chr9:137721958..137721963 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.2286G>A (p.Pro762=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241817] |
Chr9:134768463 [GRCh38]
Chr9:137660309 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2282C>T (p.Pro761Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242189] |
Chr9:134768459 [GRCh38]
Chr9:137660305 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.4338+5G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242001] |
Chr9:134818768 [GRCh38]
Chr9:137710614 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2739C>T (p.Gly913=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002243148] |
Chr9:134795120 [GRCh38]
Chr9:137686966 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.12T>G (p.His4Gln) |
single nucleotide variant |
not provided [RCV001355969] |
Chr9:134642199 [GRCh38]
Chr9:137534045 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4347A>G (p.Gln1449=) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002276724]|Ehlers-Danlos syndrome, classic type, 1 [RCV002242862] |
Chr9:134818856 [GRCh38]
Chr9:137710702 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.370G>A (p.Gly124Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242170]|not provided [RCV001508647] |
Chr9:134700001 [GRCh38]
Chr9:137591847 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.162A>T (p.Gly54=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242240] |
Chr9:134690964 [GRCh38]
Chr9:137582810 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3196G>A (p.Gly1066Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001333204] |
Chr9:134805056 [GRCh38]
Chr9:137696902 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NC_000009.11:g.(?_137733993)_(137734159_?)del |
deletion |
Ehlers-Danlos syndrome, classic type [RCV001303757] |
Chr9:137733993..137734159 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4155A>G (p.Pro1385=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242463] |
Chr9:134817058 [GRCh38]
Chr9:137708904 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.5294G>A (p.Arg1765His) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242192]|not provided [RCV003442855] |
Chr9:134835128 [GRCh38]
Chr9:137726974 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.4652C>G (p.Thr1551Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241684] |
Chr9:134823423 [GRCh38]
Chr9:137715269 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.487G>A (p.Gly163Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242720]|Familial thoracic aortic aneurysm and aortic dissection [RCV002341776] |
Chr9:134700118 [GRCh38]
Chr9:137591964 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.1123G>A (p.Glu375Lys) |
single nucleotide variant |
COL5A1-related condition [RCV003416185]|Ehlers-Danlos syndrome, classic type, 1 [RCV001806111]|not provided [RCV001310682] |
Chr9:134730434 [GRCh38]
Chr9:137622280 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.2437G>T (p.Asp813Tyr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242193] |
Chr9:134782673 [GRCh38]
Chr9:137674519 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1761C>T (p.Asp587=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002236165] |
Chr9:134753891 [GRCh38]
Chr9:137645737 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3691-8del |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002239401] |
Chr9:134812441 [GRCh38]
Chr9:137704287 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2649C>T (p.Gly883=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240902]|Familial thoracic aortic aneurysm and aortic dissection [RCV002456895]|not provided [RCV001638097] |
Chr9:134789157 [GRCh38]
Chr9:137681003 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1005C>T (p.Ile335=) |
single nucleotide variant |
COL5A1-related condition [RCV003965915]|Ehlers-Danlos syndrome, classic type, 1 [RCV002240280]|not provided [RCV001701168] |
Chr9:134730316 [GRCh38]
Chr9:137622162 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.109+10C>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241166] |
Chr9:134642306 [GRCh38]
Chr9:137534152 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1620A>C (p.Ser540=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002236137] |
Chr9:134750840 [GRCh38]
Chr9:137642686 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1716T>G (p.Pro572=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240709] |
Chr9:134752642 [GRCh38]
Chr9:137644488 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5218C>T (p.Gln1740Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242836] |
Chr9:134835052 [GRCh38]
Chr9:137726898 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.2485-10T>C |
single nucleotide variant |
COL5A1-related condition [RCV003921061]|Ehlers-Danlos syndrome [RCV002276748]|Ehlers-Danlos syndrome, classic type, 1 [RCV002241180]|not provided [RCV001581163] |
Chr9:134784979 [GRCh38]
Chr9:137676825 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3132A>G (p.Ala1044=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002236140] |
Chr9:134804992 [GRCh38]
Chr9:137696838 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.540C>A (p.Ile180=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241003] |
Chr9:134701219 [GRCh38]
Chr9:137593065 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NC_000009.11:g.(?_137593011)_(137727056_?)del |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242927] |
Chr9:137593011..137727056 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NC_000009.11:g.(?_137619102)_(137698152_?)dup |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242928] |
Chr9:137619102..137698152 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NC_000009.11:g.(?_137645560)_137650136del |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV001786483] |
|
pathogenic |
| NM_000093.5(COL5A1):c.2745+7A>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242947] |
Chr9:134795133 [GRCh38]
Chr9:137686979 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2394T>C (p.Asp798=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241029] |
Chr9:134780110 [GRCh38]
Chr9:137671956 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3769C>T (p.Arg1257Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242824] |
Chr9:134812629 [GRCh38]
Chr9:137704475 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.3905del (p.Pro1302fs) |
deletion |
not provided [RCV002267112] |
Chr9:134814030 [GRCh38]
Chr9:137705876 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.3455dup (p.Gly1153fs) |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242844] |
Chr9:134809266..134809267 [GRCh38]
Chr9:137701112..137701113 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.4014+10C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241178] |
Chr9:134814914 [GRCh38]
Chr9:137706760 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4447-10T>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002243005] |
Chr9:134820106 [GRCh38]
Chr9:137711952 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4836_4854del (p.Phe1612fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242994] |
Chr9:134824737..134824755 [GRCh38]
Chr9:137716583..137716601 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.109+7G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240659] |
Chr9:134642303 [GRCh38]
Chr9:137534149 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1578T>C (p.Phe526=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002243081] |
Chr9:134750798 [GRCh38]
Chr9:137642644 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1372C>T (p.Pro458Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242859] |
Chr9:134732110 [GRCh38]
Chr9:137623956 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2544C>T (p.Arg848=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002243096]|Familial thoracic aortic aneurysm and aortic dissection [RCV003160681]|not specified [RCV003490245] |
Chr9:134785048 [GRCh38]
Chr9:137676894 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1755G>A (p.Pro585=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002236353]|Familial thoracic aortic aneurysm and aortic dissection [RCV002405034] |
Chr9:134753885 [GRCh38]
Chr9:137645731 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4318C>T (p.Arg1440Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242915]|not provided [RCV003145653] |
Chr9:134818743 [GRCh38]
Chr9:137710589 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic |
| NM_000093.5(COL5A1):c.321del (p.Ala108fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242902] |
Chr9:134699950 [GRCh38]
Chr9:137591796 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.993G>A (p.Glu331=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002239391]|not provided [RCV001673062] |
Chr9:134730304 [GRCh38]
Chr9:137622150 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5136+8G>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002237178] |
Chr9:134830052 [GRCh38]
Chr9:137721898 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5361C>T (p.Asp1787=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002236373] |
Chr9:134835195 [GRCh38]
Chr9:137727041 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2502C>T (p.Pro834=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002243041]|not provided [RCV002225836] |
Chr9:134785006 [GRCh38]
Chr9:137676852 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4578G>C (p.Pro1526=) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002276737]|Ehlers-Danlos syndrome, classic type, 1 [RCV002237164] |
Chr9:134822120 [GRCh38]
Chr9:137713966 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.5217C>T (p.His1739=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002237165] |
Chr9:134835051 [GRCh38]
Chr9:137726897 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1008G>A (p.Gly336=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002239392] |
Chr9:134730319 [GRCh38]
Chr9:137622165 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5032dup (p.Ser1678fs) |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242886] |
Chr9:134825868..134825869 [GRCh38]
Chr9:137717714..137717715 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.3774A>G (p.Gly1258=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002236361] |
Chr9:134812634 [GRCh38]
Chr9:137704480 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5175_5200dup (p.Leu1734delinsArgTyrArgTer) |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242800] |
Chr9:134835008..134835009 [GRCh38]
Chr9:137726854..137726855 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.273C>T (p.Tyr91=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242975]|Familial thoracic aortic aneurysm and aortic dissection [RCV003170022] |
Chr9:134691075 [GRCh38]
Chr9:137582921 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3483C>T (p.Ile1161=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002243114] |
Chr9:134810263 [GRCh38]
Chr9:137702109 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5358G>T (p.Val1786=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002236014] |
Chr9:134835192 [GRCh38]
Chr9:137727038 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1774-1G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242874] |
Chr9:134754272 [GRCh38]
Chr9:137646118 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.1570-9C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002236015] |
Chr9:134750781 [GRCh38]
Chr9:137642627 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5340dup (p.Tyr1781fs) |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242885] |
Chr9:134835170..134835171 [GRCh38]
Chr9:137727016..137727017 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.2331+7G>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002236350] |
Chr9:134772841 [GRCh38]
Chr9:137664687 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1122C>G (p.Ala374=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002236158]|Familial thoracic aortic aneurysm and aortic dissection [RCV002439006] |
Chr9:134730433 [GRCh38]
Chr9:137622279 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.198A>C (p.Arg66=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002243053] |
Chr9:134691000 [GRCh38]
Chr9:137582846 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1663-10T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002237173] |
Chr9:134752579 [GRCh38]
Chr9:137644425 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2880T>G (p.Pro960=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242987] |
Chr9:134796883 [GRCh38]
Chr9:137688729 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.491+10C>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002243060] |
Chr9:134700132 [GRCh38]
Chr9:137591978 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1569+1G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242787] |
Chr9:134750617 [GRCh38]
Chr9:137642463 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.4644+10A>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002243055] |
Chr9:134823043 [GRCh38]
Chr9:137714889 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1290C>T (p.Ile430=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002236330]|Familial thoracic aortic aneurysm and aortic dissection [RCV003160744]|not provided [RCV001619905] |
Chr9:134731621 [GRCh38]
Chr9:137623467 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1495-106A>G |
single nucleotide variant |
not provided [RCV001590393] |
Chr9:134750436 [GRCh38]
Chr9:137642282 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2898+163G>T |
single nucleotide variant |
not provided [RCV001717084] |
Chr9:134797064 [GRCh38]
Chr9:137688910 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3852+62_3852+65del |
deletion |
not provided [RCV001717091] |
Chr9:134812771..134812774 [GRCh38]
Chr9:137704617..137704620 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3311C>G (p.Pro1104Arg) |
single nucleotide variant |
not provided [RCV001508654] |
Chr9:134806241 [GRCh38]
Chr9:137698087 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1223C>T (p.Thr408Met) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759052]|not provided [RCV001508651] |
Chr9:134731554 [GRCh38]
Chr9:137623400 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.5362G>A (p.Gly1788Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002564286]|not provided [RCV001509382] |
Chr9:134835196 [GRCh38]
Chr9:137727042 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.3474+48G>A |
single nucleotide variant |
not provided [RCV001715569] |
Chr9:134809338 [GRCh38]
Chr9:137701184 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3475-228A>G |
single nucleotide variant |
not provided [RCV001674811] |
Chr9:134810027 [GRCh38]
Chr9:137701873 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.787-8G>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240725] |
Chr9:134728662 [GRCh38]
Chr9:137620508 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4751G>A (p.Arg1584Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759053]|not provided [RCV001509379] |
Chr9:134824652 [GRCh38]
Chr9:137716498 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.3528+234C>T |
single nucleotide variant |
not provided [RCV001645794] |
Chr9:134810542 [GRCh38]
Chr9:137702388 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3528+72T>A |
single nucleotide variant |
not provided [RCV001669163] |
Chr9:134810380 [GRCh38]
Chr9:137702226 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.277+157G>A |
single nucleotide variant |
not provided [RCV001586583] |
Chr9:134691236 [GRCh38]
Chr9:137583082 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1774-131C>T |
single nucleotide variant |
not provided [RCV001671367] |
Chr9:134754142 [GRCh38]
Chr9:137645988 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4644+176G>A |
single nucleotide variant |
not provided [RCV001649513] |
Chr9:134823209 [GRCh38]
Chr9:137715055 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2233-142G>C |
single nucleotide variant |
not provided [RCV001716853] |
Chr9:134768268 [GRCh38]
Chr9:137660114 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.762G>T (p.Ser254=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240707]|Familial thoracic aortic aneurysm and aortic dissection [RCV002396163] |
Chr9:134727373 [GRCh38]
Chr9:137619219 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2898+53_2898+72del |
deletion |
not provided [RCV001651360] |
Chr9:134796935..134796954 [GRCh38]
Chr9:137688781..137688800 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4609-134A>G |
single nucleotide variant |
not provided [RCV001680020] |
Chr9:134822864 [GRCh38]
Chr9:137714710 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3690+44C>T |
single nucleotide variant |
not provided [RCV001716054] |
Chr9:134811643 [GRCh38]
Chr9:137703489 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1497C>T (p.Gly499=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240603] |
Chr9:134750544 [GRCh38]
Chr9:137642390 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3642T>C (p.Asp1214=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240604]|not provided [RCV001597278] |
Chr9:134811551 [GRCh38]
Chr9:137703397 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2646+260A>G |
single nucleotide variant |
not provided [RCV001589434] |
Chr9:134786308 [GRCh38]
Chr9:137678154 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4578G>A (p.Pro1526=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241024] |
Chr9:134822120 [GRCh38]
Chr9:137713966 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.654+201C>T |
single nucleotide variant |
not provided [RCV001667666] |
Chr9:134701534 [GRCh38]
Chr9:137593380 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4446+39G>A |
single nucleotide variant |
not provided [RCV001591500] |
Chr9:134819092 [GRCh38]
Chr9:137710938 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4609-279_4609-278insCC |
insertion |
not provided [RCV001714025] |
Chr9:134822718..134822719 [GRCh38]
Chr9:137714564..137714565 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2088+91C>T |
single nucleotide variant |
not provided [RCV001716806] |
Chr9:134765825 [GRCh38]
Chr9:137657671 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3939G>A (p.Glu1313=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002239403] |
Chr9:134814829 [GRCh38]
Chr9:137706675 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2088+73G>A |
single nucleotide variant |
not provided [RCV001654483] |
Chr9:134765807 [GRCh38]
Chr9:137657653 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2485-191C>T |
single nucleotide variant |
not provided [RCV001609960] |
Chr9:134784798 [GRCh38]
Chr9:137676644 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1495-11C>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002073114]|Fibromuscular dysplasia, multifocal [RCV002271284]|not provided [RCV001673265] |
Chr9:134750531 [GRCh38]
Chr9:137642377 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.5197C>T (p.Leu1733=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240677] |
Chr9:134835031 [GRCh38]
Chr9:137726877 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2784G>A (p.Gly928=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240720]|not specified [RCV003331169] |
Chr9:134795300 [GRCh38]
Chr9:137687146 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.62C>T (p.Pro21Leu) |
single nucleotide variant |
not provided [RCV001508646] |
Chr9:134642249 [GRCh38]
Chr9:137534095 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1332+7G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002236127] |
Chr9:134731670 [GRCh38]
Chr9:137623516 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NC_000009.11:g.(?_137617195)_137619147del |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV001786481] |
|
likely pathogenic |
| NM_000093.5(COL5A1):c.4184CAGGCCCCG[3] (p.Ala1398_Pro1400dup) |
microsatellite |
Ehlers-Danlos syndrome, classic type, 1 [RCV002568010]|not provided [RCV001509378] |
Chr9:134817784..134817785 [GRCh38]
Chr9:137709630..137709631 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5025C>T (p.Ala1675=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241169]|Familial thoracic aortic aneurysm and aortic dissection [RCV003161015] |
Chr9:134825862 [GRCh38]
Chr9:137717708 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1191G>A (p.Ala397=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240889] |
Chr9:134731522 [GRCh38]
Chr9:137623368 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.75G>A (p.Leu25=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240452] |
Chr9:134642262 [GRCh38]
Chr9:137534108 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.318G>A (p.Val106=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240898] |
Chr9:134699949 [GRCh38]
Chr9:137591795 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.337C>T (p.Gln113Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242997] |
Chr9:134699968 [GRCh38]
Chr9:137591814 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.4749G>A (p.Thr1583=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240291] |
Chr9:134824650 [GRCh38]
Chr9:137716496 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2730dup (p.Gln911fs) |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242850] |
Chr9:134795106..134795107 [GRCh38]
Chr9:137686952..137686953 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.4393-6C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241019] |
Chr9:134818994 [GRCh38]
Chr9:137710840 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3671dup (p.Gly1225fs) |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242837] |
Chr9:134811575..134811576 [GRCh38]
Chr9:137703421..137703422 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NC_000009.11:g.(?_137534024)_(137620663_?)del |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242790] |
Chr9:137534024..137620663 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NC_000009.11:g.(?_137582748)_(137677904_?)del |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242791] |
Chr9:137582748..137677904 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.3354G>A (p.Glu1118=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002239413] |
Chr9:134806284 [GRCh38]
Chr9:137698130 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1581A>G (p.Gly527=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242934] |
Chr9:134750801 [GRCh38]
Chr9:137642647 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4596C>T (p.Pro1532=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002243019] |
Chr9:134822138 [GRCh38]
Chr9:137713984 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3492G>A (p.Pro1164=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002236316] |
Chr9:134810272 [GRCh38]
Chr9:137702118 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4282del (p.Gln1428fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242825] |
Chr9:134818703 [GRCh38]
Chr9:137710549 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.4608+7A>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002239426] |
Chr9:134822157 [GRCh38]
Chr9:137714003 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1122C>T (p.Ala374=) |
single nucleotide variant |
COL5A1-related condition [RCV003930956]|Ehlers-Danlos syndrome, classic type, 1 [RCV002240271]|Familial thoracic aortic aneurysm and aortic dissection [RCV002439077] |
Chr9:134730433 [GRCh38]
Chr9:137622279 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.192G>A (p.Thr64=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002243083]|Familial thoracic aortic aneurysm and aortic dissection [RCV003382577] |
Chr9:134690994 [GRCh38]
Chr9:137582840 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2701-349_2701-346del |
deletion |
not provided [RCV001538794] |
Chr9:134794730..134794733 [GRCh38]
Chr9:137686576..137686579 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.846C>T (p.Asp282=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002236139]|not provided [RCV001532654] |
Chr9:134728729 [GRCh38]
Chr9:137620575 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.456C>T (p.Tyr152=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240668] |
Chr9:134700087 [GRCh38]
Chr9:137591933 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5025C>G (p.Ala1675=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240854]|Familial thoracic aortic aneurysm and aortic dissection [RCV002342084] |
Chr9:134825862 [GRCh38]
Chr9:137717708 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2843G>A (p.Arg948Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002478001]|not provided [RCV001755544] |
Chr9:134796417 [GRCh38]
Chr9:137688263 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.242C>T (p.Ala81Val) |
single nucleotide variant |
not provided [RCV002280554] |
Chr9:134691044 [GRCh38]
Chr9:137582890 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2771G>C (p.Arg924Pro) |
single nucleotide variant |
not provided [RCV001755520] |
Chr9:134795287 [GRCh38]
Chr9:137687133 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2953-1G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002249825] |
Chr9:134801953 [GRCh38]
Chr9:137693799 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.3054del (p.Pro1020fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002249826] |
Chr9:134802933 [GRCh38]
Chr9:137694779 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.2740C>T (p.Pro914Ser) |
single nucleotide variant |
not provided [RCV001755276] |
Chr9:134795121 [GRCh38]
Chr9:137686967 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2696G>T (p.Gly899Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003772098]|not provided [RCV001755552] |
Chr9:134789204 [GRCh38]
Chr9:137681050 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1628A>G (p.Glu543Gly) |
single nucleotide variant |
not provided [RCV001755554] |
Chr9:134750848 [GRCh38]
Chr9:137642694 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2866C>A (p.Pro956Thr) |
single nucleotide variant |
not provided [RCV001755371] |
Chr9:134796869 [GRCh38]
Chr9:137688715 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5136+132G>A |
single nucleotide variant |
not provided [RCV001768211] |
Chr9:134830176 [GRCh38]
Chr9:137722022 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2383A>G (p.Lys795Glu) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277992]|Ehlers-Danlos syndrome, classic type, 1 [RCV003759094] |
Chr9:134774910 [GRCh38]
Chr9:137666756 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2992G>C (p.Val998Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277994] |
Chr9:134801993 [GRCh38]
Chr9:137693839 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3259G>T (p.Gly1087Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277996] |
Chr9:134806189 [GRCh38]
Chr9:137698035 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.3577C>A (p.Pro1193Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277997] |
Chr9:134811387 [GRCh38]
Chr9:137703233 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3809_3810dup (p.Pro1271fs) |
duplication |
Ehlers-Danlos syndrome [RCV002277999] |
Chr9:134812668..134812669 [GRCh38]
Chr9:137704514..137704515 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.4014+1G>A |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002278000] |
Chr9:134814905 [GRCh38]
Chr9:137706751 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.441T>C (p.Pro147=) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002278001]|Ehlers-Danlos syndrome, classic type, 1 [RCV003774909] |
Chr9:134700072 [GRCh38]
Chr9:137591918 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.3006+40G>A |
single nucleotide variant |
not provided [RCV001774933] |
Chr9:134802047 [GRCh38]
Chr9:137693893 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.577C>T (p.Arg193Cys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001868673]|not provided [RCV001757401] |
Chr9:134701256 [GRCh38]
Chr9:137593102 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.787-14C>T |
single nucleotide variant |
See cases [RCV002252811] |
Chr9:134728656 [GRCh38]
Chr9:137620502 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4642T>A (p.Ser1548Thr) |
single nucleotide variant |
not provided [RCV001777109] |
Chr9:134823031 [GRCh38]
Chr9:137714877 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1370A>G (p.Glu457Gly) |
single nucleotide variant |
not provided [RCV001769792] |
Chr9:134732108 [GRCh38]
Chr9:137623954 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.997G>A (p.Val333Ile) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002544180]|not provided [RCV001767954] |
Chr9:134730308 [GRCh38]
Chr9:137622154 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.4374C>A (p.Asp1458Glu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001868734]|not provided [RCV001768244] |
Chr9:134818883 [GRCh38]
Chr9:137710729 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.4697C>A (p.Pro1566Gln) |
single nucleotide variant |
not provided [RCV001768326] |
Chr9:134823468 [GRCh38]
Chr9:137715314 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4235A>T (p.Glu1412Val) |
single nucleotide variant |
not provided [RCV001768404] |
Chr9:134818660 [GRCh38]
Chr9:137710506 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3775C>G (p.Pro1259Ala) |
single nucleotide variant |
not provided [RCV001766092] |
Chr9:134812635 [GRCh38]
Chr9:137704481 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2501C>T (p.Pro834Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759073]|not provided [RCV001776394] |
Chr9:134785005 [GRCh38]
Chr9:137676851 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.620T>G (p.Phe207Cys) |
single nucleotide variant |
not provided [RCV001776409] |
Chr9:134701299 [GRCh38]
Chr9:137593145 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4541C>A (p.Pro1514His) |
single nucleotide variant |
not provided [RCV001776420] |
Chr9:134820210 [GRCh38]
Chr9:137712056 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4597C>G (p.Pro1533Ala) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002034511]|not provided [RCV001776439] |
Chr9:134822139 [GRCh38]
Chr9:137713985 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.616G>T (p.Val206Leu) |
single nucleotide variant |
not provided [RCV001768262] |
Chr9:134701295 [GRCh38]
Chr9:137593141 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4210C>A (p.Gln1404Lys) |
single nucleotide variant |
not provided [RCV001768340] |
Chr9:134817811 [GRCh38]
Chr9:137709657 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.709T>C (p.Cys237Arg) |
single nucleotide variant |
not provided [RCV001769751] |
Chr9:134727320 [GRCh38]
Chr9:137619166 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.164T>C (p.Ile55Thr) |
single nucleotide variant |
not provided [RCV001753250] |
Chr9:134690966 [GRCh38]
Chr9:137582812 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.217G>A (p.Val73Ile) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001868725]|not provided [RCV001753252] |
Chr9:134691019 [GRCh38]
Chr9:137582865 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.3197G>C (p.Gly1066Ala) |
single nucleotide variant |
not provided [RCV001753263] |
Chr9:134805057 [GRCh38]
Chr9:137696903 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.580A>G (p.Ser194Gly) |
single nucleotide variant |
not provided [RCV001753289] |
Chr9:134701259 [GRCh38]
Chr9:137593105 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3627C>A (p.Phe1209Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001868706]|not provided [RCV001759116] |
Chr9:134811536 [GRCh38]
Chr9:137703382 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2430+230C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001808970] |
Chr9:134780376 [GRCh38]
Chr9:137672222 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5125C>T (p.Arg1709Cys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594159]|not provided [RCV001800025] |
Chr9:134830033 [GRCh38]
Chr9:137721879 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.5365T>C (p.Cys1789Arg) |
single nucleotide variant |
not provided [RCV001799898] |
Chr9:134835199 [GRCh38]
Chr9:137727045 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4750C>T (p.Arg1584Trp) |
single nucleotide variant |
COL5A1-related condition [RCV003892840]|Ehlers-Danlos syndrome, classic type, 1 [RCV003594154]|not provided [RCV003238564] |
Chr9:134824651 [GRCh38]
Chr9:137716497 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.4411G>A (p.Gly1471Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001868675]|not provided [RCV001757488] |
Chr9:134819018 [GRCh38]
Chr9:137710864 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4797G>C (p.Glu1599Asp) |
single nucleotide variant |
not provided [RCV001757489] |
Chr9:134824698 [GRCh38]
Chr9:137716544 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3271G>T (p.Glu1091Ter) |
single nucleotide variant |
not provided [RCV001780831] |
Chr9:134806201 [GRCh38]
Chr9:137698047 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic |
| NM_000093.5(COL5A1):c.2882G>A (p.Gly961Glu) |
single nucleotide variant |
not provided [RCV001776724] |
Chr9:134796885 [GRCh38]
Chr9:137688731 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.935C>G (p.Pro312Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759074]|not provided [RCV001776959] |
Chr9:134730246 [GRCh38]
Chr9:137622092 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.1333-3C>G |
single nucleotide variant |
not provided [RCV001776496] |
Chr9:134732068 [GRCh38]
Chr9:137623914 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.491+5G>C |
single nucleotide variant |
not provided [RCV001776851] |
Chr9:134700127 [GRCh38]
Chr9:137591973 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.67CTG[8] (p.Leu27_Leu28dup) |
microsatellite |
Familial thoracic aortic aneurysm and aortic dissection [RCV002414330]|not provided [RCV001757286] |
Chr9:134642252..134642253 [GRCh38]
Chr9:137534098..137534099 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.2700+47G>C |
single nucleotide variant |
not provided [RCV001753311] |
Chr9:134789255 [GRCh38]
Chr9:137681101 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3938A>G (p.Glu1313Gly) |
single nucleotide variant |
not provided [RCV001776732] |
Chr9:134814828 [GRCh38]
Chr9:137706674 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1949C>G (p.Pro650Arg) |
single nucleotide variant |
not provided [RCV001776804] |
Chr9:134761938 [GRCh38]
Chr9:137653784 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2527G>C (p.Glu843Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001868811]|not provided [RCV001776808] |
Chr9:134785031 [GRCh38]
Chr9:137676877 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5297_5305del (p.Phe1766_Gly1768del) |
deletion |
not provided [RCV001776900] |
Chr9:134835128..134835136 [GRCh38]
Chr9:137726974..137726982 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5000T>C (p.Phe1667Ser) |
single nucleotide variant |
not provided [RCV001758996] |
Chr9:134825837 [GRCh38]
Chr9:137717683 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4534T>G (p.Ser1512Ala) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001885140]|Familial thoracic aortic aneurysm and aortic dissection [RCV002334693]|not provided [RCV001777062] |
Chr9:134820203 [GRCh38]
Chr9:137712049 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.550A>G (p.Lys184Glu) |
single nucleotide variant |
not provided [RCV001759328] |
Chr9:134701229 [GRCh38]
Chr9:137593075 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2088+18C>G |
single nucleotide variant |
not provided [RCV001811804] |
Chr9:134765752 [GRCh38]
Chr9:137657598 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3968C>T (p.Pro1323Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001869464]|Familial thoracic aortic aneurysm and aortic dissection [RCV002324203]|not provided [RCV001810817] |
Chr9:134814858 [GRCh38]
Chr9:137706704 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2332G>T (p.Gly778Cys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001808975] |
Chr9:134774859 [GRCh38]
Chr9:137666705 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000093.5(COL5A1):c.2430+16C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003772211]|not provided [RCV001811781] |
Chr9:134780162 [GRCh38]
Chr9:137672008 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.1827+12G>A |
single nucleotide variant |
not provided [RCV001810788] |
Chr9:134754338 [GRCh38]
Chr9:137646184 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1728del (p.Ser578fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV001945031] |
Chr9:134753858 [GRCh38]
Chr9:137645704 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NC_000009.11:g.(?_137721822)_(137734149_?)dup |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV001907925] |
Chr9:137721822..137734149 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3086C>A (p.Pro1029Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001808984] |
Chr9:134802967 [GRCh38]
Chr9:137694813 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.786+135A>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001808992] |
Chr9:134727532 [GRCh38]
Chr9:137619378 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2262A>G (p.Gly754=) |
single nucleotide variant |
not provided [RCV001811850] |
Chr9:134768439 [GRCh38]
Chr9:137660285 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3511G>A (p.Gly1171Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001889158] |
Chr9:134810291 [GRCh38]
Chr9:137702137 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1332+5G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002045271] |
Chr9:134731668 [GRCh38]
Chr9:137623514 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1141G>A (p.Ala381Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001929889]|not provided [RCV002261399] |
Chr9:134730452 [GRCh38]
Chr9:137622298 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.3528+12C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001893548] |
Chr9:134810320 [GRCh38]
Chr9:137702166 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.640G>A (p.Glu214Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001929199] |
Chr9:134701319 [GRCh38]
Chr9:137593165 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3112A>G (p.Lys1038Glu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001913848]|Familial thoracic aortic aneurysm and aortic dissection [RCV002324317] |
Chr9:134802993 [GRCh38]
Chr9:137694839 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2770C>T (p.Arg924Trp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001895727] |
Chr9:134795286 [GRCh38]
Chr9:137687132 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.2209G>A (p.Ala737Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001988462] |
Chr9:134767331 [GRCh38]
Chr9:137659177 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5291T>A (p.Leu1764His) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001864527] |
Chr9:134835125 [GRCh38]
Chr9:137726971 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3985C>T (p.Pro1329Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001872864] |
Chr9:134814875 [GRCh38]
Chr9:137706721 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3205-20A>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002042101] |
Chr9:134805141 [GRCh38]
Chr9:137696987 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1A>G (p.Met1Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001895245] |
Chr9:134642188 [GRCh38]
Chr9:137534034 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.713A>G (p.Glu238Gly) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001894500]|not provided [RCV003128821] |
Chr9:134727324 [GRCh38]
Chr9:137619170 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4699-3C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001929026]|not provided [RCV003327539] |
Chr9:134824597 [GRCh38]
Chr9:137716443 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1463C>G (p.Pro488Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001988529] |
Chr9:134738777 [GRCh38]
Chr9:137630623 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3344C>A (p.Pro1115Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001949856] |
Chr9:134806274 [GRCh38]
Chr9:137698120 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1208A>T (p.Glu403Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001987435]|Familial thoracic aortic aneurysm and aortic dissection [RCV002344093]|not provided [RCV002284502] |
Chr9:134731539 [GRCh38]
Chr9:137623385 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.3125G>T (p.Gly1042Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002003111] |
Chr9:134804985 [GRCh38]
Chr9:137696831 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1727del (p.Pro576fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV001874259] |
Chr9:134753853 [GRCh38]
Chr9:137645699 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.3784G>A (p.Ala1262Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001915503] |
Chr9:134812644 [GRCh38]
Chr9:137704490 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.3185G>T (p.Arg1062Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002024772] |
Chr9:134805045 [GRCh38]
Chr9:137696891 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2693G>T (p.Gly898Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001889820] |
Chr9:134789201 [GRCh38]
Chr9:137681047 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3334C>T (p.Pro1112Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001909904] |
Chr9:134806264 [GRCh38]
Chr9:137698110 [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_000093.5(COL5A1):c.404C>T (p.Ser135Phe) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001907716] |
Chr9:134700035 [GRCh38]
Chr9:137591881 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.786+5G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001893383] |
Chr9:134727402 [GRCh38]
Chr9:137619248 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.4645-10_4645-7del |
microsatellite |
Ehlers-Danlos syndrome, classic type, 1 [RCV001912926] |
Chr9:134823401..134823404 [GRCh38]
Chr9:137715247..137715250 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3454C>T (p.Pro1152Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001986251] |
Chr9:134809270 [GRCh38]
Chr9:137701116 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.3337C>T (p.Pro1113Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001893412] |
Chr9:134806267 [GRCh38]
Chr9:137698113 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5026G>T (p.Gly1676Trp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001911788] |
Chr9:134825863 [GRCh38]
Chr9:137717709 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5234A>T (p.His1745Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001946406] |
Chr9:134835068 [GRCh38]
Chr9:137726914 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4345C>A (p.Gln1449Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002020982] |
Chr9:134818854 [GRCh38]
Chr9:137710700 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5391G>C (p.Lys1797Asn) |
single nucleotide variant |
Shoulder subluxation [RCV001842237] |
Chr9:134842177 [GRCh38]
Chr9:137734023 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1052C>T (p.Pro351Leu) |
single nucleotide variant |
COL5A1-related condition [RCV003408091]|Ehlers-Danlos syndrome, classic type, 1 [RCV002021003]|Familial thoracic aortic aneurysm and aortic dissection [RCV003382813] |
Chr9:134730363 [GRCh38]
Chr9:137622209 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.4936C>T (p.His1646Tyr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001892090] |
Chr9:134824837 [GRCh38]
Chr9:137716683 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4385del (p.Gly1462fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV001947051] |
Chr9:134818893 [GRCh38]
Chr9:137710739 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.5012G>T (p.Cys1671Phe) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001948759] |
Chr9:134825849 [GRCh38]
Chr9:137717695 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4714G>A (p.Val1572Ile) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001967520] |
Chr9:134824615 [GRCh38]
Chr9:137716461 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.5345T>A (p.Ile1782Asn) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002044218] |
Chr9:134835179 [GRCh38]
Chr9:137727025 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2857C>T (p.Pro953Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001987531] |
Chr9:134796860 [GRCh38]
Chr9:137688706 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5342_5343insTGACAA (p.Tyr1781_Ile1782insAspAsn) |
insertion |
Ehlers-Danlos syndrome, classic type, 1 [RCV001890898] |
Chr9:134835175..134835176 [GRCh38]
Chr9:137727021..137727022 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.707A>G (p.Tyr236Cys) |
single nucleotide variant |
COL5A1-related condition [RCV003395359]|Ehlers-Danlos syndrome, classic type, 1 [RCV002023643] |
Chr9:134727318 [GRCh38]
Chr9:137619164 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2153del (p.Gly718fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002053875]|Ehlers-Danlos syndrome, classic type, 1 [RCV003228050] |
Chr9:134767018 [GRCh38]
Chr9:137658864 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.257CCA[1] (p.Thr87del) |
microsatellite |
Ehlers-Danlos syndrome, classic type, 1 [RCV001873021] |
Chr9:134691059..134691061 [GRCh38]
Chr9:137582905..137582907 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1165-2_1169dup |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV001889946] |
Chr9:134731491..134731492 [GRCh38]
Chr9:137623337..137623338 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5425C>T (p.Gln1809Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001965192] |
Chr9:134842211 [GRCh38]
Chr9:137734057 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.1346G>A (p.Arg449Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001890334] |
Chr9:134732084 [GRCh38]
Chr9:137623930 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.2066C>T (p.Pro689Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002024198]|not provided [RCV003443001] |
Chr9:134765712 [GRCh38]
Chr9:137657558 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.2034C>T (p.Pro678=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002041308] |
Chr9:134763737 [GRCh38]
Chr9:137655583 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.551A>G (p.Lys184Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001966737] |
Chr9:134701230 [GRCh38]
Chr9:137593076 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3941C>T (p.Ser1314Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002021162] |
Chr9:134814831 [GRCh38]
Chr9:137706677 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5173G>A (p.Val1725Met) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001927222] |
Chr9:134835007 [GRCh38]
Chr9:137726853 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| 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_000093.5(COL5A1):c.2488G>T (p.Glu830Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001839467] |
Chr9:134784992 [GRCh38]
Chr9:137676838 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.1678C>G (p.Pro560Ala) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001891241] |
Chr9:134752604 [GRCh38]
Chr9:137644450 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4594C>T (p.Pro1532Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001969178] |
Chr9:134822136 [GRCh38]
Chr9:137713982 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1495-3C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002043744] |
Chr9:134750539 [GRCh38]
Chr9:137642385 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2332-5T>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001909206] |
Chr9:134774854 [GRCh38]
Chr9:137666700 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1132A>C (p.Thr378Pro) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001823628] |
Chr9:134730443 [GRCh38]
Chr9:137622289 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.214G>A (p.Asp72Asn) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001884222] |
Chr9:134691016 [GRCh38]
Chr9:137582862 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1989+4G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002037596] |
Chr9:134761982 [GRCh38]
Chr9:137653828 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3162A>T (p.Gly1054=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001888046] |
Chr9:134805022 [GRCh38]
Chr9:137696868 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.5081C>T (p.Ser1694Phe) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001917802] |
Chr9:134829989 [GRCh38]
Chr9:137721835 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1298G>C (p.Gly433Ala) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001975277] |
Chr9:134731629 [GRCh38]
Chr9:137623475 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.385G>A (p.Gly129Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001936677] |
Chr9:134700016 [GRCh38]
Chr9:137591862 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2133+19G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001944552] |
Chr9:134766517 [GRCh38]
Chr9:137658363 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3578C>T (p.Pro1193Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001962521] |
Chr9:134811388 [GRCh38]
Chr9:137703234 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3742A>G (p.Met1248Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002020260] |
Chr9:134812500 [GRCh38]
Chr9:137704346 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.925-2A>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002013293] |
Chr9:134730234 [GRCh38]
Chr9:137622080 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.4389del (p.Met1464fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV001956071] |
Chr9:134818895 [GRCh38]
Chr9:137710741 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.5415del (p.Val1807fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV001905823] |
Chr9:134842197 [GRCh38]
Chr9:137734043 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.2646+18T>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001958570] |
Chr9:134786066 [GRCh38]
Chr9:137677912 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1628_1630dup (p.Ser544Ter) |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV001904682] |
Chr9:134750847..134750848 [GRCh38]
Chr9:137642693..137642694 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.109G>C (p.Ala37Pro) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001942041] |
Chr9:134642296 [GRCh38]
Chr9:137534142 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.5152G>A (p.Ala1718Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001931764] |
Chr9:134834986 [GRCh38]
Chr9:137726832 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.2331+4G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002028903] |
Chr9:134772838 [GRCh38]
Chr9:137664684 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4189C>T (p.Pro1397Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001899938] |
Chr9:134817790 [GRCh38]
Chr9:137709636 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2986C>G (p.Pro996Ala) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001942590]|not provided [RCV003426224] |
Chr9:134801987 [GRCh38]
Chr9:137693833 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2681A>G (p.Asn894Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001938118] |
Chr9:134789189 [GRCh38]
Chr9:137681035 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.1569C>T (p.Pro523=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002000275]|Familial thoracic aortic aneurysm and aortic dissection [RCV002398046] |
Chr9:134750616 [GRCh38]
Chr9:137642462 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.1287G>T (p.Glu429Asp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001897716] |
Chr9:134731618 [GRCh38]
Chr9:137623464 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2002G>C (p.Glu668Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002032001] |
Chr9:134763705 [GRCh38]
Chr9:137655551 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4608+3G>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002016912] |
Chr9:134822153 [GRCh38]
Chr9:137713999 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.643G>T (p.Glu215Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001972838] |
Chr9:134701322 [GRCh38]
Chr9:137593168 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.4180C>T (p.Pro1394Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001993686] |
Chr9:134817781 [GRCh38]
Chr9:137709627 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4819G>A (p.Gly1607Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001936425] |
Chr9:134824720 [GRCh38]
Chr9:137716566 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3852+3G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001952065] |
Chr9:134812715 [GRCh38]
Chr9:137704561 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1239_1241del (p.Asp413del) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV001867404] |
Chr9:134731568..134731570 [GRCh38]
Chr9:137623414..137623416 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.7G>T (p.Val3Phe) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001974238]|not provided [RCV003146442] |
Chr9:134642194 [GRCh38]
Chr9:137534040 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2893C>T (p.Pro965Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001935144] |
Chr9:134796896 [GRCh38]
Chr9:137688742 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3346G>T (p.Ala1116Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001921925] |
Chr9:134806276 [GRCh38]
Chr9:137698122 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.808G>T (p.Gly270Cys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002031005] |
Chr9:134728691 [GRCh38]
Chr9:137620537 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5310C>G (p.Asn1770Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001935436] |
Chr9:134835144 [GRCh38]
Chr9:137726990 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.368A>G (p.Gln123Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001898406] |
Chr9:134699999 [GRCh38]
Chr9:137591845 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.1102A>C (p.Thr368Pro) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002030051] |
Chr9:134730413 [GRCh38]
Chr9:137622259 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.901A>G (p.Lys301Glu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001973243] |
Chr9:134728784 [GRCh38]
Chr9:137620630 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.2674_2675delinsCT (p.Gly892Leu) |
indel |
Ehlers-Danlos syndrome, classic type, 1 [RCV001974482] |
Chr9:134789182..134789183 [GRCh38]
Chr9:137681028..137681029 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.50CCCCGCTGCTGC[3] (p.Pro21_Leu24dup) |
microsatellite |
Ehlers-Danlos syndrome, classic type, 1 [RCV001875305] |
Chr9:134642236..134642237 [GRCh38]
Chr9:137534082..137534083 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4150G>C (p.Gly1384Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001993106] |
Chr9:134817053 [GRCh38]
Chr9:137708899 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1333-19T>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001972006] |
Chr9:134732052 [GRCh38]
Chr9:137623898 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.105del (p.Ala36fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV001951090] |
Chr9:134642292 [GRCh38]
Chr9:137534138 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.4252C>T (p.Pro1418Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002028886] |
Chr9:134818677 [GRCh38]
Chr9:137710523 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.1384G>A (p.Glu462Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001922772] |
Chr9:134732122 [GRCh38]
Chr9:137623968 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.2569C>T (p.Pro857Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001922793] |
Chr9:134785073 [GRCh38]
Chr9:137676919 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.3643G>A (p.Glu1215Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002031875] |
Chr9:134811552 [GRCh38]
Chr9:137703398 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1097A>G (p.Gln366Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001932162] |
Chr9:134730408 [GRCh38]
Chr9:137622254 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3509A>G (p.Lys1170Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001918997] |
Chr9:134810289 [GRCh38]
Chr9:137702135 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3582+20G>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001954246] |
Chr9:134811412 [GRCh38]
Chr9:137703258 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2983C>T (p.Pro995Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002026790]|not provided [RCV002227291] |
Chr9:134801984 [GRCh38]
Chr9:137693830 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.1910G>T (p.Gly637Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001992226] |
Chr9:134758271 [GRCh38]
Chr9:137650117 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.3209C>T (p.Ala1070Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001886244] |
Chr9:134805165 [GRCh38]
Chr9:137697011 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.253G>A (p.Ala85Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001954264] |
Chr9:134691055 [GRCh38]
Chr9:137582901 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.5229_5230del (p.Tyr1744fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV001992364] |
Chr9:134835063..134835064 [GRCh38]
Chr9:137726909..137726910 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.3185G>C (p.Arg1062Pro) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001904593] |
Chr9:134805045 [GRCh38]
Chr9:137696891 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4609G>C (p.Gly1537Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001937156] |
Chr9:134822998 [GRCh38]
Chr9:137714844 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3827G>T (p.Gly1276Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001900727] |
Chr9:134812687 [GRCh38]
Chr9:137704533 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.175A>G (p.Thr59Ala) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001934004] |
Chr9:134690977 [GRCh38]
Chr9:137582823 [GRCh37]
Chr9:9q34.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000093.5(COL5A1):c.4813G>A (p.Ala1605Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002017228] |
Chr9:134824714 [GRCh38]
Chr9:137716560 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.3412G>T (p.Gly1138Trp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002048469] |
Chr9:134809228 [GRCh38]
Chr9:137701074 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.458C>A (p.Pro153His) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001898389]|not provided [RCV002260711] |
Chr9:134700089 [GRCh38]
Chr9:137591935 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.3690+2dup |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV001884029] |
Chr9:134811600..134811601 [GRCh38]
Chr9:137703446..137703447 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3599C>T (p.Pro1200Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002019049] |
Chr9:134811508 [GRCh38]
Chr9:137703354 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.5452A>G (p.Asn1818Asp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001883473] |
Chr9:134842238 [GRCh38]
Chr9:137734084 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.2844+3A>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001975989] |
Chr9:134796421 [GRCh38]
Chr9:137688267 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.700T>C (p.Tyr234His) |
single nucleotide variant |
COL5A1-related condition [RCV003416499]|Confusion [RCV002509707]|Ehlers-Danlos syndrome, classic type, 1 [RCV001885457]|Ehlers-Danlos syndrome, classic type, 1 [RCV002489949] |
Chr9:134727311 [GRCh38]
Chr9:137619157 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.296A>G (p.Asp99Gly) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001931936] |
Chr9:134699927 [GRCh38]
Chr9:137591773 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.595A>G (p.Ile199Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001952523] |
Chr9:134701274 [GRCh38]
Chr9:137593120 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.3833_3846del (p.Pro1278fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV001960710] |
Chr9:134812693..134812706 [GRCh38]
Chr9:137704539..137704552 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.924+8C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001900076] |
Chr9:134728815 [GRCh38]
Chr9:137620661 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4256C>T (p.Pro1419Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001954069] |
Chr9:134818681 [GRCh38]
Chr9:137710527 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2057C>T (p.Pro686Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001900584] |
Chr9:134765703 [GRCh38]
Chr9:137657549 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.5159G>A (p.Gly1720Asp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001923665] |
Chr9:134834993 [GRCh38]
Chr9:137726839 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5067+4A>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001951662] |
Chr9:134825908 [GRCh38]
Chr9:137717754 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2771G>A (p.Arg924Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001924873] |
Chr9:134795287 [GRCh38]
Chr9:137687133 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.1252G>C (p.Asp418His) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001996782] |
Chr9:134731583 [GRCh38]
Chr9:137623429 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.2705C>T (p.Thr902Ile) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001924558] |
Chr9:134795086 [GRCh38]
Chr9:137686932 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.128T>G (p.Leu43Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002034940] |
Chr9:134690930 [GRCh38]
Chr9:137582776 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4378C>T (p.Pro1460Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001980586] |
Chr9:134818887 [GRCh38]
Chr9:137710733 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.1630del (p.Ser544fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV001906353] |
Chr9:134750850 [GRCh38]
Chr9:137642696 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.289C>T (p.Pro97Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002019179]|Familial thoracic aortic aneurysm and aortic dissection [RCV002441175]|not provided [RCV002466734] |
Chr9:134699920 [GRCh38]
Chr9:137591766 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3514dup (p.Asp1172fs) |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV001925457] |
Chr9:134810289..134810290 [GRCh38]
Chr9:137702135..137702136 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.4604dup (p.Pro1536fs) |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV001906883] |
Chr9:134822145..134822146 [GRCh38]
Chr9:137713991..137713992 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NC_000009.11:g.(?_137703323)_(137734200_?)del |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV001930266] |
Chr9:137703323..137734200 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.246G>T (p.Gln82His) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002032878] |
Chr9:134691048 [GRCh38]
Chr9:137582894 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3613C>T (p.Gln1205Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001951003] |
Chr9:134811522 [GRCh38]
Chr9:137703368 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.4000C>T (p.Pro1334Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001972027] |
Chr9:134814890 [GRCh38]
Chr9:137706736 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1429G>T (p.Ala477Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002030608] |
Chr9:134738513 [GRCh38]
Chr9:137630359 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NC_000009.11:g.(?_137733983)_(137734149_?)del |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV001956467] |
Chr9:137733983..137734149 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.4714del (p.Val1572fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV001956546] |
Chr9:134824614 [GRCh38]
Chr9:137716460 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.1937_1946del |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV001867281] |
Chr9:134761924..134761933 [GRCh38]
Chr9:137653770..137653779 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.1789C>T (p.Gln597Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001990175] |
Chr9:134754288 [GRCh38]
Chr9:137646134 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.5308A>G (p.Asn1770Asp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001990393] |
Chr9:134835142 [GRCh38]
Chr9:137726988 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2725C>T (p.Arg909Trp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002030154] |
Chr9:134795106 [GRCh38]
Chr9:137686952 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.611T>C (p.Ile204Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001973270] |
Chr9:134701290 [GRCh38]
Chr9:137593136 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.1658C>T (p.Ala553Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002028445] |
Chr9:134750878 [GRCh38]
Chr9:137642724 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3194C>T (p.Pro1065Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001881647] |
Chr9:134805054 [GRCh38]
Chr9:137696900 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5026G>A (p.Gly1676Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001921881]|not provided [RCV002224105] |
Chr9:134825863 [GRCh38]
Chr9:137717709 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4383dup (p.Gly1462fs) |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV001958697] |
Chr9:134818886..134818887 [GRCh38]
Chr9:137710732..137710733 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.2895C>G (p.Pro965=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002191933] |
Chr9:134796898 [GRCh38]
Chr9:137688744 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2226A>G (p.Gly742=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002092845] |
Chr9:134767348 [GRCh38]
Chr9:137659194 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3690+12G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002147160] |
Chr9:134811611 [GRCh38]
Chr9:137703457 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1995C>T (p.Asp665=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002085955] |
Chr9:134763698 [GRCh38]
Chr9:137655544 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1484C>T (p.Pro495Leu) |
single nucleotide variant |
not provided [RCV002224335] |
Chr9:134738798 [GRCh38]
Chr9:137630644 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3576C>A (p.Gly1192=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002087419]|Familial thoracic aortic aneurysm and aortic dissection [RCV002454333] |
Chr9:134811386 [GRCh38]
Chr9:137703232 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.127C>T (p.Leu43=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002126726] |
Chr9:134690929 [GRCh38]
Chr9:137582775 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3582+9C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002188940] |
Chr9:134811401 [GRCh38]
Chr9:137703247 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2746-15C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002086247] |
Chr9:134795247 [GRCh38]
Chr9:137687093 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.459C>A (p.Pro153=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002072544] |
Chr9:134700090 [GRCh38]
Chr9:137591936 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.487_488delinsTT (p.Gly163Phe) |
indel |
not provided [RCV002224305] |
Chr9:134700118..134700119 [GRCh38]
Chr9:137591964..137591965 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3453C>T (p.Pro1151=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002128718] |
Chr9:134809269 [GRCh38]
Chr9:137701115 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.277+9C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002089196] |
Chr9:134691088 [GRCh38]
Chr9:137582934 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2232+20G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002168699] |
Chr9:134767374 [GRCh38]
Chr9:137659220 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1389+14C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002167372] |
Chr9:134732141 [GRCh38]
Chr9:137623987 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4446+16C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002170304] |
Chr9:134819069 [GRCh38]
Chr9:137710915 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4937A>G (p.His1646Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003089176]|not provided [RCV002223564] |
Chr9:134824838 [GRCh38]
Chr9:137716684 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1464C>T (p.Pro488=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002089350]|Familial thoracic aortic aneurysm and aortic dissection [RCV003161559] |
Chr9:134738778 [GRCh38]
Chr9:137630624 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1774-8C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002126450] |
Chr9:134754265 [GRCh38]
Chr9:137646111 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5262C>T (p.Asp1754=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002129401]|Familial thoracic aortic aneurysm and aortic dissection [RCV003161520] |
Chr9:134835096 [GRCh38]
Chr9:137726942 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5492T>C (p.Val1831Ala) |
single nucleotide variant |
not provided [RCV002223506] |
Chr9:134842278 [GRCh38]
Chr9:137734124 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1882-4G>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002073684] |
Chr9:134758239 [GRCh38]
Chr9:137650085 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2188-15_2188-14del |
microsatellite |
Ehlers-Danlos syndrome, classic type, 1 [RCV002147184] |
Chr9:134767293..134767294 [GRCh38]
Chr9:137659139..137659140 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3468A>C (p.Gly1156=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002076026] |
Chr9:134809284 [GRCh38]
Chr9:137701130 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2967G>A (p.Lys989=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002104316] |
Chr9:134801968 [GRCh38]
Chr9:137693814 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3415C>T (p.Pro1139Ser) |
single nucleotide variant |
not provided [RCV002224343] |
Chr9:134809231 [GRCh38]
Chr9:137701077 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4685C>G (p.Pro1562Arg) |
single nucleotide variant |
not provided [RCV002224537] |
Chr9:134823456 [GRCh38]
Chr9:137715302 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4069-16G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002168193] |
Chr9:134815919 [GRCh38]
Chr9:137707765 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2386-10A>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002191578] |
Chr9:134780092 [GRCh38]
Chr9:137671938 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4884C>G (p.Pro1628=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002109254] |
Chr9:134824785 [GRCh38]
Chr9:137716631 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3121C>G (p.Pro1041Ala) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003101272]|not provided [RCV002223512] |
Chr9:134804981 [GRCh38]
Chr9:137696827 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.3907-18C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002087363] |
Chr9:134814779 [GRCh38]
Chr9:137706625 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2694C>T (p.Gly898=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002088090]|Familial thoracic aortic aneurysm and aortic dissection [RCV002454421] |
Chr9:134789202 [GRCh38]
Chr9:137681048 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1881+9C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002165849] |
Chr9:134756827 [GRCh38]
Chr9:137648673 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3528+15G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002104836] |
Chr9:134810323 [GRCh38]
Chr9:137702169 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4521C>T (p.Gly1507=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002108164]|Familial thoracic aortic aneurysm and aortic dissection [RCV002337285] |
Chr9:134820190 [GRCh38]
Chr9:137712036 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4177-8T>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002111644] |
Chr9:134817770 [GRCh38]
Chr9:137709616 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2745+9C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002091488] |
Chr9:134795135 [GRCh38]
Chr9:137686981 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2800-17del |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002109931] |
Chr9:134796357 [GRCh38]
Chr9:137688203 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1431+20C>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002075137] |
Chr9:134738535 [GRCh38]
Chr9:137630381 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2430+20_2430+21inv |
inversion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002087629] |
Chr9:134780166..134780167 [GRCh38]
Chr9:137672012..137672013 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.655-17C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002130893] |
Chr9:134727249 [GRCh38]
Chr9:137619095 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1882-20C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002191505] |
Chr9:134758223 [GRCh38]
Chr9:137650069 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5226C>T (p.Val1742=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002209766] |
Chr9:134835060 [GRCh38]
Chr9:137726906 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4176+20C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002193043] |
Chr9:134817099 [GRCh38]
Chr9:137708945 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4740A>G (p.Ala1580=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002095008] |
Chr9:134824641 [GRCh38]
Chr9:137716487 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5137-5C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002076743] |
Chr9:134834966 [GRCh38]
Chr9:137726812 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1719+19T>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002150217] |
Chr9:134752664 [GRCh38]
Chr9:137644510 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1989+17C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002113751] |
Chr9:134761995 [GRCh38]
Chr9:137653841 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1719+13C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002195376] |
Chr9:134752658 [GRCh38]
Chr9:137644504 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3898G>A (p.Gly1300Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594171]|not provided [RCV002224923] |
Chr9:134814028 [GRCh38]
Chr9:137705874 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.1164+13C>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002215011] |
Chr9:134730488 [GRCh38]
Chr9:137622334 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2409G>A (p.Leu803=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002132550] |
Chr9:134780125 [GRCh38]
Chr9:137671971 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1164+19A>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002078506] |
Chr9:134730494 [GRCh38]
Chr9:137622340 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.109+14G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002116736] |
Chr9:134642310 [GRCh38]
Chr9:137534156 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3744+12T>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002175078] |
Chr9:134812514 [GRCh38]
Chr9:137704360 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1390-14C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002193941] |
Chr9:134738460 [GRCh38]
Chr9:137630306 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2188-15C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002111962] |
Chr9:134767295 [GRCh38]
Chr9:137659141 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1935+14C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002095403] |
Chr9:134758310 [GRCh38]
Chr9:137650156 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2133+9C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002215187] |
Chr9:134766507 [GRCh38]
Chr9:137658353 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3529-4G>A |
single nucleotide variant |
COL5A1-related condition [RCV003960933]|Ehlers-Danlos syndrome, classic type, 1 [RCV002214057]|Familial thoracic aortic aneurysm and aortic dissection [RCV002454584] |
Chr9:134811335 [GRCh38]
Chr9:137703181 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.5068-20C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002097213] |
Chr9:134829956 [GRCh38]
Chr9:137721802 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4177-18T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002216341] |
Chr9:134817760 [GRCh38]
Chr9:137709606 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4231-19G>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002196411] |
Chr9:134818637 [GRCh38]
Chr9:137710483 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3771A>G (p.Arg1257=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002206238]|Familial thoracic aortic aneurysm and aortic dissection [RCV002346555] |
Chr9:134812631 [GRCh38]
Chr9:137704477 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.873C>A (p.Thr291=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002109257] |
Chr9:134728756 [GRCh38]
Chr9:137620602 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3367-16C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002115182] |
Chr9:134809167 [GRCh38]
Chr9:137701013 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4954+15G>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002095415] |
Chr9:134824870 [GRCh38]
Chr9:137716716 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2332-16T>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002146263] |
Chr9:134774843 [GRCh38]
Chr9:137666689 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4083C>G (p.Pro1361=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002096083] |
Chr9:134815949 [GRCh38]
Chr9:137707795 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4698+16A>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002170497] |
Chr9:134823485 [GRCh38]
Chr9:137715331 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2019G>A (p.Gly673=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002152092] |
Chr9:134763722 [GRCh38]
Chr9:137655568 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1662+11C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002170572] |
Chr9:134750893 [GRCh38]
Chr9:137642739 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1431+16del |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002095537] |
Chr9:134738529 [GRCh38]
Chr9:137630375 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1389+17A>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002108233] |
Chr9:134732144 [GRCh38]
Chr9:137623990 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2715G>A (p.Lys905=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002094169] |
Chr9:134795096 [GRCh38]
Chr9:137686942 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2799+10T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002214831] |
Chr9:134795325 [GRCh38]
Chr9:137687171 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4069-4A>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002172020] |
Chr9:134815931 [GRCh38]
Chr9:137707777 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2208T>A (p.Gly736=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002125394] |
Chr9:134767330 [GRCh38]
Chr9:137659176 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4644+11T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002088584] |
Chr9:134823044 [GRCh38]
Chr9:137714890 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1569+19C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002071629] |
Chr9:134750635 [GRCh38]
Chr9:137642481 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3006+11G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002131600] |
Chr9:134802018 [GRCh38]
Chr9:137693864 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1720-12A>C |
single nucleotide variant |
COL5A1-related condition [RCV003933613]|Ehlers-Danlos syndrome, classic type, 1 [RCV002150928] |
Chr9:134753838 [GRCh38]
Chr9:137645684 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.109+10C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002080308] |
Chr9:134642306 [GRCh38]
Chr9:137534152 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4177-8T>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002096381] |
Chr9:134817770 [GRCh38]
Chr9:137709616 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3669C>T (p.Pro1223=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002197048]|Ehlers-Danlos syndrome, classic type, 1 [RCV002507889] |
Chr9:134811578 [GRCh38]
Chr9:137703424 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3575G>A (p.Gly1192Asp) |
single nucleotide variant |
not provided [RCV002224410] |
Chr9:134811385 [GRCh38]
Chr9:137703231 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2332-3del |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002172768] |
Chr9:134774853 [GRCh38]
Chr9:137666699 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.5100G>A (p.Pro1700=) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277011]|Ehlers-Danlos syndrome, classic type, 1 [RCV002215809]|Familial thoracic aortic aneurysm and aortic dissection [RCV002337245] |
Chr9:134830008 [GRCh38]
Chr9:137721854 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4554+12G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002145861] |
Chr9:134820235 [GRCh38]
Chr9:137712081 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4645-5C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002114417] |
Chr9:134823411 [GRCh38]
Chr9:137715257 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1149C>T (p.Thr383=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002218278]|Familial thoracic aortic aneurysm and aortic dissection [RCV002454397] |
Chr9:134730460 [GRCh38]
Chr9:137622306 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3054G>T (p.Gly1018=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002119369] |
Chr9:134802935 [GRCh38]
Chr9:137694781 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3786T>G (p.Ala1262=) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277000]|Ehlers-Danlos syndrome, classic type, 1 [RCV002175546]|Familial thoracic aortic aneurysm and aortic dissection [RCV003303720] |
Chr9:134812646 [GRCh38]
Chr9:137704492 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.2088+15C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002119629] |
Chr9:134765749 [GRCh38]
Chr9:137657595 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.277+10G>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002203607] |
Chr9:134691089 [GRCh38]
Chr9:137582935 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2232+7G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002156127] |
Chr9:134767361 [GRCh38]
Chr9:137659207 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2593-14C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002218962] |
Chr9:134785981 [GRCh38]
Chr9:137677827 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2746-5T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002218963] |
Chr9:134795257 [GRCh38]
Chr9:137687103 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3745-17T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002122141] |
Chr9:134812588 [GRCh38]
Chr9:137704434 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4555-11G>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002100915] |
Chr9:134822086 [GRCh38]
Chr9:137713932 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1990-12dup |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV002099051] |
Chr9:134763675..134763676 [GRCh38]
Chr9:137655521..137655522 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2847A>T (p.Gly949=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002142176]|Familial thoracic aortic aneurysm and aortic dissection [RCV002434515] |
Chr9:134796850 [GRCh38]
Chr9:137688696 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1470C>T (p.Gly490=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002178355] |
Chr9:134738784 [GRCh38]
Chr9:137630630 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4287G>A (p.Gly1429=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002201051] |
Chr9:134818712 [GRCh38]
Chr9:137710558 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1638G>T (p.Ala546=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002157196] |
Chr9:134750858 [GRCh38]
Chr9:137642704 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5370+12G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002103347] |
Chr9:134835216 [GRCh38]
Chr9:137727062 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4668G>A (p.Glu1556=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002176956] |
Chr9:134823439 [GRCh38]
Chr9:137715285 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5415C>T (p.Pro1805=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002081178]|Familial thoracic aortic aneurysm and aortic dissection [RCV002346410] |
Chr9:134842201 [GRCh38]
Chr9:137734047 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4692C>T (p.Gly1564=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002121385]|Familial thoracic aortic aneurysm and aortic dissection [RCV002337345] |
Chr9:134823463 [GRCh38]
Chr9:137715309 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.2133+18C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002179080] |
Chr9:134766516 [GRCh38]
Chr9:137658362 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5136+13C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002182958] |
Chr9:134830057 [GRCh38]
Chr9:137721903 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4954+11G>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002181401] |
Chr9:134824866 [GRCh38]
Chr9:137716712 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4123-20G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002198250] |
Chr9:134817006 [GRCh38]
Chr9:137708852 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4609-15C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002183238] |
Chr9:134822983 [GRCh38]
Chr9:137714829 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1569+20G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002141674] |
Chr9:134750636 [GRCh38]
Chr9:137642482 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2844+19C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002137965] |
Chr9:134796437 [GRCh38]
Chr9:137688283 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3006+8C>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002158522] |
Chr9:134802015 [GRCh38]
Chr9:137693861 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4984T>C (p.Cys1662Arg) |
single nucleotide variant |
not provided [RCV002251640] |
Chr9:134825821 [GRCh38]
Chr9:137717667 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2799+14C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002180281] |
Chr9:134795329 [GRCh38]
Chr9:137687175 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1570-7C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002157512] |
Chr9:134750783 [GRCh38]
Chr9:137642629 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2343C>T (p.Gly781=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002119264] |
Chr9:134774870 [GRCh38]
Chr9:137666716 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4777C>T (p.Leu1593=) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277012]|Ehlers-Danlos syndrome, classic type, 1 [RCV002083132] |
Chr9:134824678 [GRCh38]
Chr9:137716524 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.5134C>T (p.Leu1712=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002197802] |
Chr9:134830042 [GRCh38]
Chr9:137721888 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.786+11T>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002220357]|Ehlers-Danlos syndrome, classic type, 1 [RCV002494115] |
Chr9:134727408 [GRCh38]
Chr9:137619254 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1131C>T (p.Pro377=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002119698] |
Chr9:134730442 [GRCh38]
Chr9:137622288 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4015-18_4015-15del |
microsatellite |
Ehlers-Danlos syndrome, classic type, 1 [RCV002101906] |
Chr9:134815554..134815557 [GRCh38]
Chr9:137707400..137707403 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5325C>T (p.Ser1775=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002103580] |
Chr9:134835159 [GRCh38]
Chr9:137727005 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3654A>G (p.Arg1218=) |
single nucleotide variant |
COL5A1-related condition [RCV003968721]|Ehlers-Danlos syndrome, classic type, 1 [RCV002159669] |
Chr9:134811563 [GRCh38]
Chr9:137703409 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.213G>T (p.Pro71=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002098716] |
Chr9:134691015 [GRCh38]
Chr9:137582861 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4926G>A (p.Leu1642=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002219386]|Familial thoracic aortic aneurysm and aortic dissection [RCV002346397] |
Chr9:134824827 [GRCh38]
Chr9:137716673 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.786+8_786+12del |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002217377] |
Chr9:134727405..134727409 [GRCh38]
Chr9:137619251..137619255 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3597G>A (p.Glu1199=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002178182] |
Chr9:134811506 [GRCh38]
Chr9:137703352 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4968C>G (p.Val1656=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002178198] |
Chr9:134825805 [GRCh38]
Chr9:137717651 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1389+10T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002082459] |
Chr9:134732137 [GRCh38]
Chr9:137623983 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3745-20T>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002101496] |
Chr9:134812585 [GRCh38]
Chr9:137704431 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2700+12C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002083451] |
Chr9:134789220 [GRCh38]
Chr9:137681066 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4645-16T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002159613] |
Chr9:134823400 [GRCh38]
Chr9:137715246 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1989+15G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002117607] |
Chr9:134761993 [GRCh38]
Chr9:137653839 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2287-16T>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002083363] |
Chr9:134772774 [GRCh38]
Chr9:137664620 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3120C>T (p.Asp1040=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002140760] |
Chr9:134804980 [GRCh38]
Chr9:137696826 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3205-18C>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002158404] |
Chr9:134805143 [GRCh38]
Chr9:137696989 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4609-6C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002123180] |
Chr9:134822992 [GRCh38]
Chr9:137714838 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4231-13C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002180939] |
Chr9:134818643 [GRCh38]
Chr9:137710489 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3906+11G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002154376] |
Chr9:134814047 [GRCh38]
Chr9:137705893 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3084T>C (p.Leu1028=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002177593] |
Chr9:134802965 [GRCh38]
Chr9:137694811 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.957C>T (p.Pro319=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002156581]|Familial thoracic aortic aneurysm and aortic dissection [RCV003308028] |
Chr9:134730268 [GRCh38]
Chr9:137622114 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4392+16C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002121965]|not specified [RCV003491047] |
Chr9:134818917 [GRCh38]
Chr9:137710763 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1333-7C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002136351] |
Chr9:134732064 [GRCh38]
Chr9:137623910 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2148G>A (p.Glu716=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002181326]|Familial thoracic aortic aneurysm and aortic dissection [RCV003308033] |
Chr9:134767014 [GRCh38]
Chr9:137658860 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2799+13C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002136330] |
Chr9:134795328 [GRCh38]
Chr9:137687174 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2154C>T (p.Gly718=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002138377] |
Chr9:134767020 [GRCh38]
Chr9:137658866 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1882-9T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002181984] |
Chr9:134758234 [GRCh38]
Chr9:137650080 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2073T>A (p.Gly691=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002219849] |
Chr9:134765719 [GRCh38]
Chr9:137657565 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.654+11G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002139908] |
Chr9:134701344 [GRCh38]
Chr9:137593190 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1521T>G (p.Pro507=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002082802] |
Chr9:134750568 [GRCh38]
Chr9:137642414 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1774-16C>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002204789] |
Chr9:134754257 [GRCh38]
Chr9:137646103 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3888G>T (p.Pro1296=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002181964] |
Chr9:134814018 [GRCh38]
Chr9:137705864 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1390-18C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002180442] |
Chr9:134738456 [GRCh38]
Chr9:137630302 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4695C>G (p.Pro1565=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002202846] |
Chr9:134823466 [GRCh38]
Chr9:137715312 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4974T>C (p.Pro1658=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002144643]|Familial thoracic aortic aneurysm and aortic dissection [RCV003161534] |
Chr9:134825811 [GRCh38]
Chr9:137717657 [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_000093.5(COL5A1):c.3006+5G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003110285] |
Chr9:134802012 [GRCh38]
Chr9:137693858 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1435C>T (p.Leu479Phe) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003112968] |
Chr9:134738749 [GRCh38]
Chr9:137630595 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1989+14C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594318]|not provided [RCV003120112] |
Chr9:134761992 [GRCh38]
Chr9:137653838 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4351C>T (p.Leu1451Phe) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003121231] |
Chr9:134818860 [GRCh38]
Chr9:137710706 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4230+5C>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003118627] |
Chr9:134817836 [GRCh38]
Chr9:137709682 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3945C>T (p.Gly1315=) |
single nucleotide variant |
not provided [RCV003120218] |
Chr9:134814835 [GRCh38]
Chr9:137706681 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1106A>T (p.Asp369Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003121432] |
Chr9:134730417 [GRCh38]
Chr9:137622263 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| 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_000093.5(COL5A1):c.4381C>G (p.Pro1461Ala) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003118883] |
Chr9:134818890 [GRCh38]
Chr9:137710736 [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 |
| NC_000009.11:g.(?_137534034)_(137582945_?)del |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV003119300] |
Chr9:137534034..137582945 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NC_000009.11:g.(?_137664616)_(137734149_?)del |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV003119301] |
Chr9:137664616..137734149 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NC_000009.11:g.(?_137591735)_(137593199_?)del |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV003119302] |
Chr9:137591735..137593199 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NC_000009.11:g.(?_137676815)_(137677914_?)del |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV003119303] |
Chr9:137676815..137677914 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NC_000009.11:g.(?_137709604)_(137717770_?)del |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV003119304] |
Chr9:137709604..137717770 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NC_000009.11:g.(?_137623322)_(137623993_?)del |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV003119305] |
Chr9:137623322..137623993 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NC_000009.11:g.(?_137534034)_(137630674_?)dup |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV003119306] |
Chr9:137534034..137630674 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.380A>G (p.Gln127Arg) |
single nucleotide variant |
not provided [RCV003152246] |
Chr9:134700011 [GRCh38]
Chr9:137591857 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4014+4del |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002274271] |
Chr9:134814908 [GRCh38]
Chr9:137706754 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.613A>G (p.Ile205Val) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002278008] |
Chr9:134701292 [GRCh38]
Chr9:137593138 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.655-2A>T |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002278009]|Ehlers-Danlos syndrome, classic type, 1 [RCV003594181]|Familial thoracic aortic aneurysm and aortic dissection [RCV002363741] |
Chr9:134727264 [GRCh38]
Chr9:137619110 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.2923C>G (p.Pro975Ala) |
single nucleotide variant |
not provided [RCV002261885] |
Chr9:134798432 [GRCh38]
Chr9:137690278 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2508C>T (p.Pro836=) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277993]|Ehlers-Danlos syndrome, classic type, 1 [RCV003774908]|Familial thoracic aortic aneurysm and aortic dissection [RCV003308090] |
Chr9:134785012 [GRCh38]
Chr9:137676858 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.5031del (p.Ser1678fs) |
deletion |
Ehlers-Danlos syndrome [RCV002278006] |
Chr9:134825863 [GRCh38]
Chr9:137717709 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.741A>G (p.Ala247=) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002278010] |
Chr9:134727352 [GRCh38]
Chr9:137619198 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1633C>T (p.Gln545Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002274284] |
Chr9:134750853 [GRCh38]
Chr9:137642699 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.5241C>A (p.Tyr1747Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002289122] |
Chr9:134835075 [GRCh38]
Chr9:137726921 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.67C>G (p.Leu23Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002290124] |
Chr9:134642254 [GRCh38]
Chr9:137534100 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2905C>T (p.Pro969Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003101461]|not provided [RCV002261884] |
Chr9:134798414 [GRCh38]
Chr9:137690260 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.2551C>T (p.Pro851Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002434958] |
Chr9:134785055 [GRCh38]
Chr9:137676901 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4824G>A (p.Met1608Ile) |
single nucleotide variant |
not provided [RCV002292053] |
Chr9:134824725 [GRCh38]
Chr9:137716571 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.4(COL5A1):c.4646dupG |
duplication |
Ehlers-Danlos syndrome [RCV002278005] |
Chr9:134823414..134823415 [GRCh38]
Chr9:137715260..137715261 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.4969G>A (p.Asp1657Asn) |
single nucleotide variant |
not provided [RCV002267456] |
Chr9:134825806 [GRCh38]
Chr9:137717652 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5243A>G (p.Gln1748Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002337424]|not provided [RCV002274578] |
Chr9:134835077 [GRCh38]
Chr9:137726923 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5167G>C (p.Val1723Leu) |
single nucleotide variant |
not provided [RCV002261886] |
Chr9:134835001 [GRCh38]
Chr9:137726847 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.198A>G (p.Arg66=) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277991]|Ehlers-Danlos syndrome, classic type, 1 [RCV003096259] |
Chr9:134691000 [GRCh38]
Chr9:137582846 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.3024G>A (p.Thr1008=) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277995]|Ehlers-Danlos syndrome, classic type, 1 [RCV003096260]|Familial thoracic aortic aneurysm and aortic dissection [RCV002434620] |
Chr9:134802905 [GRCh38]
Chr9:137694751 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.3609G>C (p.Arg1203=) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277998]|Ehlers-Danlos syndrome, classic type, 1 [RCV003594180] |
Chr9:134811518 [GRCh38]
Chr9:137703364 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.4645-4C>G |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002278004] |
Chr9:134823412 [GRCh38]
Chr9:137715258 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1389+2T>C |
single nucleotide variant |
not provided [RCV002283262] |
Chr9:134732129 [GRCh38]
Chr9:137623975 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.2741C>T (p.Pro914Leu) |
single nucleotide variant |
not provided [RCV002292098] |
Chr9:134795122 [GRCh38]
Chr9:137686968 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.655-1G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002288426] |
Chr9:134727265 [GRCh38]
Chr9:137619111 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.1522G>A (p.Gly508Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002289236] |
Chr9:134750569 [GRCh38]
Chr9:137642415 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1537C>T (p.Pro513Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002289280] |
Chr9:134750584 [GRCh38]
Chr9:137642430 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5305T>C (p.Ser1769Pro) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002290092] |
Chr9:134835139 [GRCh38]
Chr9:137726985 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.786+1G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002290382] |
Chr9:134727398 [GRCh38]
Chr9:137619244 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic |
| NM_000093.5(COL5A1):c.1724C>T (p.Pro575Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277990] |
Chr9:134753854 [GRCh38]
Chr9:137645700 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4555-6T>G |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002278002] |
Chr9:134822091 [GRCh38]
Chr9:137713937 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4051G>A (p.Gly1351Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003097733]|Stroke disorder [RCV002287817] |
Chr9:134815612 [GRCh38]
Chr9:137707458 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2191C>G (p.Leu731Val) |
single nucleotide variant |
not provided [RCV002293811] |
Chr9:134767313 [GRCh38]
Chr9:137659159 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1070A>T (p.Tyr357Phe) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759099]|not provided [RCV002293841] |
Chr9:134730381 [GRCh38]
Chr9:137622227 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.3413G>A (p.Gly1138Glu) |
single nucleotide variant |
not provided [RCV002281269] |
Chr9:134809229 [GRCh38]
Chr9:137701075 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.2331+3G>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002290182] |
Chr9:134772837 [GRCh38]
Chr9:137664683 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.98C>T (p.Pro33Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002387453] |
Chr9:134642285 [GRCh38]
Chr9:137534131 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2233-3T>C |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002420146] |
Chr9:134768407 [GRCh38]
Chr9:137660253 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.978G>A (p.Gly326=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002387194] |
Chr9:134730289 [GRCh38]
Chr9:137622135 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1687C>G (p.Pro563Ala) |
single nucleotide variant |
not provided [RCV002285582] |
Chr9:134752613 [GRCh38]
Chr9:137644459 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5457C>T (p.Asp1819=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002349692] |
Chr9:134842243 [GRCh38]
Chr9:137734089 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1361A>G (p.Gln454Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003096332]|not provided [RCV002281494] |
Chr9:134732099 [GRCh38]
Chr9:137623945 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5061C>A (p.Ser1687=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594216]|Familial thoracic aortic aneurysm and aortic dissection [RCV002351443] |
Chr9:134825898 [GRCh38]
Chr9:137717744 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.54del (p.Leu19fs) |
deletion |
Familial thoracic aortic aneurysm and aortic dissection [RCV002351639] |
Chr9:134642241 [GRCh38]
Chr9:137534087 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.675C>G (p.Leu225=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003103326]|Familial thoracic aortic aneurysm and aortic dissection [RCV002369251] |
Chr9:134727286 [GRCh38]
Chr9:137619132 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1726C>A (p.Pro576Thr) |
single nucleotide variant |
not provided [RCV002287119] |
Chr9:134753856 [GRCh38]
Chr9:137645702 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4584G>A (p.Gly1528=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003301400] |
Chr9:134822126 [GRCh38]
Chr9:137713972 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4430G>A (p.Gly1477Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003301401] |
Chr9:134819037 [GRCh38]
Chr9:137710883 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.775C>G (p.Pro259Ala) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002471322] |
Chr9:134727386 [GRCh38]
Chr9:137619232 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.622G>A (p.Gly208Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002470457] |
Chr9:134701301 [GRCh38]
Chr9:137593147 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.216T>C (p.Asp72=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003101104]|Familial thoracic aortic aneurysm and aortic dissection [RCV002417940] |
Chr9:134691018 [GRCh38]
Chr9:137582864 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.3865G>A (p.Glu1289Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002471696]|not provided [RCV003151897] |
Chr9:134813995 [GRCh38]
Chr9:137705841 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2281C>A (p.Pro761Thr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002446092] |
Chr9:134768458 [GRCh38]
Chr9:137660304 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5085G>T (p.Trp1695Cys) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002335908] |
Chr9:134829993 [GRCh38]
Chr9:137721839 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4230+5_4230+6delinsTA |
indel |
Ehlers-Danlos syndrome, classic type, 1 [RCV003102544]|Familial thoracic aortic aneurysm and aortic dissection [RCV002328117] |
Chr9:134817836..134817837 [GRCh38]
Chr9:137709682..137709683 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2294C>G (p.Pro765Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002298386] |
Chr9:134772797 [GRCh38]
Chr9:137664643 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2578C>T (p.Pro860Ser) |
single nucleotide variant |
not provided [RCV002305883] |
Chr9:134785082 [GRCh38]
Chr9:137676928 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.30C>G (p.Arg10=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002325943] |
Chr9:134642217 [GRCh38]
Chr9:137534063 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.226A>G (p.Arg76Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002443856] |
Chr9:134691028 [GRCh38]
Chr9:137582874 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1296G>A (p.Pro432=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003094928]|Familial thoracic aortic aneurysm and aortic dissection [RCV002380658]|not provided [RCV003427465] |
Chr9:134731627 [GRCh38]
Chr9:137623473 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5264C>T (p.Ala1755Val) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002341039] |
Chr9:134835098 [GRCh38]
Chr9:137726944 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2500C>T (p.Pro834Ser) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002431103] |
Chr9:134785004 [GRCh38]
Chr9:137676850 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1201G>C (p.Glu401Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002296740] |
Chr9:134731532 [GRCh38]
Chr9:137623378 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.270G>A (p.Leu90=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002431179] |
Chr9:134691072 [GRCh38]
Chr9:137582918 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4686C>G (p.Pro1562=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002335223] |
Chr9:134823457 [GRCh38]
Chr9:137715303 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.834C>T (p.Pro278=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003099917]|Familial thoracic aortic aneurysm and aortic dissection [RCV002434699] |
Chr9:134728717 [GRCh38]
Chr9:137620563 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5110T>C (p.Phe1704Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002301677] |
Chr9:134830018 [GRCh38]
Chr9:137721864 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4755G>A (p.Arg1585=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002330638] |
Chr9:134824656 [GRCh38]
Chr9:137716502 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.150C>T (p.Asn50=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003095263]|Familial thoracic aortic aneurysm and aortic dissection [RCV002390077] |
Chr9:134690952 [GRCh38]
Chr9:137582798 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.2807C>G (p.Ser936Cys) |
single nucleotide variant |
not provided [RCV002300868] |
Chr9:134796381 [GRCh38]
Chr9:137688227 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2759A>G (p.Glu920Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002439448] |
Chr9:134795275 [GRCh38]
Chr9:137687121 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2435A>G (p.Glu812Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002459919] |
Chr9:134782671 [GRCh38]
Chr9:137674517 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.388C>G (p.Leu130Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002300003] |
Chr9:134700019 [GRCh38]
Chr9:137591865 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.17G>T (p.Arg6Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002407890] |
Chr9:134642204 [GRCh38]
Chr9:137534050 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1762G>C (p.Val588Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002401685] |
Chr9:134753892 [GRCh38]
Chr9:137645738 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2820C>T (p.Gly940=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002441819] |
Chr9:134796394 [GRCh38]
Chr9:137688240 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5040C>T (p.Cys1680=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594215]|Familial thoracic aortic aneurysm and aortic dissection [RCV002335662] |
Chr9:134825877 [GRCh38]
Chr9:137717723 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.3488A>C (p.Glu1163Ala) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759108]|Familial thoracic aortic aneurysm and aortic dissection [RCV002457408] |
Chr9:134810268 [GRCh38]
Chr9:137702114 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.2401C>T (p.Arg801Cys) |
single nucleotide variant |
not provided [RCV002306061] |
Chr9:134780117 [GRCh38]
Chr9:137671963 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.668A>C (p.Gln223Pro) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003102286]|not provided [RCV002306076] |
Chr9:134727279 [GRCh38]
Chr9:137619125 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3259-5C>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002324931] |
Chr9:134806184 [GRCh38]
Chr9:137698030 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5053AAG[1] (p.Lys1686del) |
microsatellite |
Familial thoracic aortic aneurysm and aortic dissection [RCV002335759] |
Chr9:134825890..134825892 [GRCh38]
Chr9:137717736..137717738 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4315C>T (p.Leu1439Phe) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002300481] |
Chr9:134818740 [GRCh38]
Chr9:137710586 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.678T>C (p.Phe226=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003098381]|Familial thoracic aortic aneurysm and aortic dissection [RCV002369411] |
Chr9:134727289 [GRCh38]
Chr9:137619135 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1626G>A (p.Gln542=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002401162] |
Chr9:134750846 [GRCh38]
Chr9:137642692 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2482C>G (p.Arg828Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002430807] |
Chr9:134782718 [GRCh38]
Chr9:137674564 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2366C>G (p.Pro789Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002450143] |
Chr9:134774893 [GRCh38]
Chr9:137666739 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.341C>G (p.Ala114Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002456921] |
Chr9:134699972 [GRCh38]
Chr9:137591818 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2988C>G (p.Pro996=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002442280] |
Chr9:134801989 [GRCh38]
Chr9:137693835 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2766C>A (p.Gly922=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002439546] |
Chr9:134795282 [GRCh38]
Chr9:137687128 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1970C>A (p.Pro657Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594281]|Familial thoracic aortic aneurysm and aortic dissection [RCV002423481] |
Chr9:134761959 [GRCh38]
Chr9:137653805 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.3433C>G (p.Pro1145Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002457051] |
Chr9:134809249 [GRCh38]
Chr9:137701095 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4128C>T (p.Ser1376=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002333034] |
Chr9:134817031 [GRCh38]
Chr9:137708877 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.90G>T (p.Ala30=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002450018] |
Chr9:134642277 [GRCh38]
Chr9:137534123 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1826G>A (p.Arg609Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003097279]|Familial thoracic aortic aneurysm and aortic dissection [RCV002410444] |
Chr9:134754325 [GRCh38]
Chr9:137646171 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1826G>T (p.Arg609Leu) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002410447] |
Chr9:134754325 [GRCh38]
Chr9:137646171 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4320A>G (p.Arg1440=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002332034] |
Chr9:134818745 [GRCh38]
Chr9:137710591 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.309A>G (p.Leu103=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002325888] |
Chr9:134699940 [GRCh38]
Chr9:137591786 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4554+4C>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002340172] |
Chr9:134820227 [GRCh38]
Chr9:137712073 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4623A>C (p.Pro1541=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002342523] |
Chr9:134823012 [GRCh38]
Chr9:137714858 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4427C>A (p.Ser1476Tyr) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002333935] |
Chr9:134819034 [GRCh38]
Chr9:137710880 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1063C>T (p.Leu355Phe) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003100874]|Familial thoracic aortic aneurysm and aortic dissection [RCV002412688] |
Chr9:134730374 [GRCh38]
Chr9:137622220 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.1406_1407delinsAA (p.Gly469Glu) |
indel |
Ehlers-Danlos syndrome, classic type, 1 [RCV002294835] |
Chr9:134738490..134738491 [GRCh38]
Chr9:137630336..137630337 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2987_2988dup (p.Gly997fs) |
duplication |
Familial thoracic aortic aneurysm and aortic dissection [RCV002442263] |
Chr9:134801982..134801983 [GRCh38]
Chr9:137693828..137693829 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.4588C>G (p.Pro1530Ala) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002300335] |
Chr9:134822130 [GRCh38]
Chr9:137713976 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1233C>T (p.Asn411=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002378083] |
Chr9:134731564 [GRCh38]
Chr9:137623410 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4701C>T (p.Gly1567=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002330585] |
Chr9:134824602 [GRCh38]
Chr9:137716448 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1515C>G (p.Gly505=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002392294] |
Chr9:134750562 [GRCh38]
Chr9:137642408 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2598A>T (p.Lys866Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002426186] |
Chr9:134786000 [GRCh38]
Chr9:137677846 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3607C>G (p.Arg1203Gly) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002455279] |
Chr9:134811516 [GRCh38]
Chr9:137703362 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4653T>C (p.Thr1551=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002335080] |
Chr9:134823424 [GRCh38]
Chr9:137715270 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.76C>T (p.Leu26=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002400580] |
Chr9:134642263 [GRCh38]
Chr9:137534109 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5139C>G (p.Leu1713=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594218]|Familial thoracic aortic aneurysm and aortic dissection [RCV002338191] |
Chr9:134834973 [GRCh38]
Chr9:137726819 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3357A>G (p.Lys1119=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV002321019] |
Chr9:134806287 [GRCh38]
Chr9:137698133 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3711C>A (p.Gly1237=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002681440] |
Chr9:134812469 [GRCh38]
Chr9:137704315 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3528+13A>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002993658] |
Chr9:134810321 [GRCh38]
Chr9:137702167 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.655-9_655-7del |
microsatellite |
Ehlers-Danlos syndrome, classic type, 1 [RCV002681383] |
Chr9:134727253..134727255 [GRCh38]
Chr9:137619099..137619101 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2485-18_2485-16del |
microsatellite |
Ehlers-Danlos syndrome, classic type, 1 [RCV002967744] |
Chr9:134784967..134784969 [GRCh38]
Chr9:137676813..137676815 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4738del (p.Ala1580fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002837965] |
Chr9:134824638 [GRCh38]
Chr9:137716484 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.45G>A (p.Pro15=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002686321] |
Chr9:134642232 [GRCh38]
Chr9:137534078 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2952+20G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003013716] |
Chr9:134798481 [GRCh38]
Chr9:137690327 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2386-6G>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002615995] |
Chr9:134780096 [GRCh38]
Chr9:137671942 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2952+1G>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002881336] |
Chr9:134798462 [GRCh38]
Chr9:137690308 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.1390-17T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003074010] |
Chr9:134738457 [GRCh38]
Chr9:137630303 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.523A>C (p.Lys175Gln) |
single nucleotide variant |
not provided [RCV002511421] |
Chr9:134701202 [GRCh38]
Chr9:137593048 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.891G>A (p.Val297=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002904888] |
Chr9:134728774 [GRCh38]
Chr9:137620620 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3367-15T>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002616447] |
Chr9:134809168 [GRCh38]
Chr9:137701014 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1006G>A (p.Gly336Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002903224]|not provided [RCV003334074] |
Chr9:134730317 [GRCh38]
Chr9:137622163 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1356A>G (p.Lys452=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002690185] |
Chr9:134732094 [GRCh38]
Chr9:137623940 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.716A>G (p.His239Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002843033] |
Chr9:134727327 [GRCh38]
Chr9:137619173 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4014+12A>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003017743] |
Chr9:134814916 [GRCh38]
Chr9:137706762 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.309A>T (p.Leu103=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002690354]|Familial thoracic aortic aneurysm and aortic dissection [RCV003308230] |
Chr9:134699940 [GRCh38]
Chr9:137591786 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5288C>T (p.Ala1763Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002837925] |
Chr9:134835122 [GRCh38]
Chr9:137726968 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3744+6T>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003016181] |
Chr9:134812508 [GRCh38]
Chr9:137704354 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.655-17C>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002904920] |
Chr9:134727249 [GRCh38]
Chr9:137619095 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3115-10_3115-9del |
microsatellite |
Ehlers-Danlos syndrome, classic type, 1 [RCV002995842] |
Chr9:134804963..134804964 [GRCh38]
Chr9:137696809..137696810 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3031A>G (p.Met1011Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003075447] |
Chr9:134802912 [GRCh38]
Chr9:137694758 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.16C>T (p.Arg6Cys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002907736] |
Chr9:134642203 [GRCh38]
Chr9:137534049 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1662+15_1662+22dup |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV002995271] |
Chr9:134750895..134750896 [GRCh38]
Chr9:137642741..137642742 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3335C>T (p.Pro1112Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002971699] |
Chr9:134806265 [GRCh38]
Chr9:137698111 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1089C>T (p.Asn363=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002995914] |
Chr9:134730400 [GRCh38]
Chr9:137622246 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3529-8C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003032505] |
Chr9:134811331 [GRCh38]
Chr9:137703177 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.646G>T (p.Val216Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002862357] |
Chr9:134701325 [GRCh38]
Chr9:137593171 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3937G>A (p.Glu1313Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002727825] |
Chr9:134814827 [GRCh38]
Chr9:137706673 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2430+1G>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002880251] |
Chr9:134780147 [GRCh38]
Chr9:137671993 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.15C>A (p.Thr5=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002614279] |
Chr9:134642202 [GRCh38]
Chr9:137534048 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3205-12A>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003015004] |
Chr9:134805149 [GRCh38]
Chr9:137696995 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5476A>C (p.Lys1826Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002775117] |
Chr9:134842262 [GRCh38]
Chr9:137734108 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.95C>A (p.Pro32His) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759762]|Inborn genetic diseases [RCV003289519]|not provided [RCV002511462] |
Chr9:134642282 [GRCh38]
Chr9:137534128 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.1990-6C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002903923] |
Chr9:134763687 [GRCh38]
Chr9:137655533 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2800-19C>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002755284] |
Chr9:134796355 [GRCh38]
Chr9:137688201 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2701-1G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002838085] |
Chr9:134795081 [GRCh38]
Chr9:137686927 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.731G>A (p.Cys244Tyr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002862786] |
Chr9:134727342 [GRCh38]
Chr9:137619188 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.924+15G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002616114] |
Chr9:134728822 [GRCh38]
Chr9:137620668 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3290C>T (p.Ala1097Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003076160] |
Chr9:134806220 [GRCh38]
Chr9:137698066 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2312delinsTGGCAAAGA (p.Pro771fs) |
indel |
Ehlers-Danlos syndrome, classic type, 1 [RCV002994852] |
Chr9:134772815 [GRCh38]
Chr9:137664661 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.924+18G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003098946] |
Chr9:134728825 [GRCh38]
Chr9:137620671 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1266C>G (p.Asp422Glu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003034966] |
Chr9:134731597 [GRCh38]
Chr9:137623443 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5057A>G (p.Lys1686Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002615870] |
Chr9:134825894 [GRCh38]
Chr9:137717740 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4954+17del |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002995762] |
Chr9:134824866 [GRCh38]
Chr9:137716712 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5371-17_5371-16delinsCC |
indel |
Ehlers-Danlos syndrome, classic type, 1 [RCV002882201] |
Chr9:134842140..134842141 [GRCh38]
Chr9:137733986..137733987 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1387C>G (p.Pro463Ala) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002993804] |
Chr9:134732125 [GRCh38]
Chr9:137623971 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3287G>A (p.Gly1096Glu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002842584] |
Chr9:134806217 [GRCh38]
Chr9:137698063 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2558G>A (p.Gly853Asp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003017298] |
Chr9:134785062 [GRCh38]
Chr9:137676908 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1719+13C>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002908362] |
Chr9:134752658 [GRCh38]
Chr9:137644504 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2496C>G (p.Gly832=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002952526] |
Chr9:134785000 [GRCh38]
Chr9:137676846 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3163T>C (p.Leu1055=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002871479] |
Chr9:134805023 [GRCh38]
Chr9:137696869 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4393-16C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002622039] |
Chr9:134818984 [GRCh38]
Chr9:137710830 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1114_1115del (p.Ala372fs) |
microsatellite |
Ehlers-Danlos syndrome, classic type, 1 [RCV002825354] |
Chr9:134730423..134730424 [GRCh38]
Chr9:137622269..137622270 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.3317_3333del (p.Arg1106fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002846966] |
Chr9:134806240..134806256 [GRCh38]
Chr9:137698086..137698102 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.1827+8G>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002640398] |
Chr9:134754334 [GRCh38]
Chr9:137646180 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5066G>T (p.Gly1689Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003100391] |
Chr9:134825903 [GRCh38]
Chr9:137717749 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2800-19C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002637530] |
Chr9:134796355 [GRCh38]
Chr9:137688201 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4555-17T>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002640285] |
Chr9:134822080 [GRCh38]
Chr9:137713926 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1077G>C (p.Glu359Asp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002591751] |
Chr9:134730388 [GRCh38]
Chr9:137622234 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2031G>T (p.Glu677Asp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002592946] |
Chr9:134763734 [GRCh38]
Chr9:137655580 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.149A>C (p.Asn50Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002927795] |
Chr9:134690951 [GRCh38]
Chr9:137582797 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3006+1G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003003310] |
Chr9:134802008 [GRCh38]
Chr9:137693854 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.3964C>A (p.Pro1322Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002953390] |
Chr9:134814854 [GRCh38]
Chr9:137706700 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.5136+16G>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002912889] |
Chr9:134830060 [GRCh38]
Chr9:137721906 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3853-14C>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002871135] |
Chr9:134813969 [GRCh38]
Chr9:137705815 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3211C>T (p.Leu1071Phe) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002570979] |
Chr9:134805167 [GRCh38]
Chr9:137697013 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4069-17C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003081549] |
Chr9:134815918 [GRCh38]
Chr9:137707764 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1165-14dup |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV003078345] |
Chr9:134731480..134731481 [GRCh38]
Chr9:137623326..137623327 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2431-20C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002637636] |
Chr9:134782647 [GRCh38]
Chr9:137674493 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3853-19A>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003078389] |
Chr9:134813964 [GRCh38]
Chr9:137705810 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4282C>G (p.Gln1428Glu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002735266] |
Chr9:134818707 [GRCh38]
Chr9:137710553 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1935+18G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002867669] |
Chr9:134758314 [GRCh38]
Chr9:137650160 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3928G>A (p.Glu1310Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003036795] |
Chr9:134814818 [GRCh38]
Chr9:137706664 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3744+9G>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002926597] |
Chr9:134812511 [GRCh38]
Chr9:137704357 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.180C>A (p.Gly60=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002621805] |
Chr9:134690982 [GRCh38]
Chr9:137582828 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2701-15dup |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV002886102] |
Chr9:134795063..134795064 [GRCh38]
Chr9:137686909..137686910 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2118G>T (p.Gly706=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002637880]|Familial thoracic aortic aneurysm and aortic dissection [RCV003377912] |
Chr9:134766483 [GRCh38]
Chr9:137658329 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.1720-16C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002923760] |
Chr9:134753834 [GRCh38]
Chr9:137645680 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2088+5G>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002867489] |
Chr9:134765739 [GRCh38]
Chr9:137657585 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3960C>G (p.Ala1320=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002637336] |
Chr9:134814850 [GRCh38]
Chr9:137706696 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4673dup (p.His1559fs) |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV002847219] |
Chr9:134823442..134823443 [GRCh38]
Chr9:137715288..137715289 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.4339-15G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002999094] |
Chr9:134818833 [GRCh38]
Chr9:137710679 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1271C>T (p.Thr424Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002692469] |
Chr9:134731602 [GRCh38]
Chr9:137623448 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.858A>G (p.Leu286=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002846704] |
Chr9:134728741 [GRCh38]
Chr9:137620587 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1929C>T (p.Gly643=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003054839] |
Chr9:134758290 [GRCh38]
Chr9:137650136 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2134-14C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002848393] |
Chr9:134766986 [GRCh38]
Chr9:137658832 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4608+14A>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003035828] |
Chr9:134822164 [GRCh38]
Chr9:137714010 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3853-33_3853-17del |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002637171] |
Chr9:134813948..134813964 [GRCh38]
Chr9:137705794..137705810 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3259-11C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003100336] |
Chr9:134806178 [GRCh38]
Chr9:137698024 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3873T>C (p.Gly1291=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002846780] |
Chr9:134814003 [GRCh38]
Chr9:137705849 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1318A>C (p.Thr440Pro) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002760908]|not specified [RCV003331390] |
Chr9:134731649 [GRCh38]
Chr9:137623495 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2898+19G>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002909776] |
Chr9:134796920 [GRCh38]
Chr9:137688766 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2106C>T (p.Asp702=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002952724] |
Chr9:134766471 [GRCh38]
Chr9:137658317 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1617C>T (p.Val539=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002870892] |
Chr9:134750837 [GRCh38]
Chr9:137642683 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2793C>A (p.Gly931=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002866457] |
Chr9:134795309 [GRCh38]
Chr9:137687155 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1264G>A (p.Asp422Asn) |
single nucleotide variant |
not provided [RCV002510034] |
Chr9:134731595 [GRCh38]
Chr9:137623441 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4392+6_4392+24dup |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV002886103] |
Chr9:134818897..134818898 [GRCh38]
Chr9:137710743..137710744 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3367-16C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002760776] |
Chr9:134809167 [GRCh38]
Chr9:137701013 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4122+4A>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002976482] |
Chr9:134815992 [GRCh38]
Chr9:137707838 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3570G>T (p.Gln1190His) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002885597] |
Chr9:134811380 [GRCh38]
Chr9:137703226 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1583G>T (p.Gly528Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002847598] |
Chr9:134750803 [GRCh38]
Chr9:137642649 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2811A>G (p.Gly937=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002848365] |
Chr9:134796385 [GRCh38]
Chr9:137688231 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3747C>G (p.Gly1249=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003052985] |
Chr9:134812607 [GRCh38]
Chr9:137704453 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.589C>T (p.Pro197Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003039164] |
Chr9:134701268 [GRCh38]
Chr9:137593114 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3834T>C (p.Pro1278=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002619967] |
Chr9:134812694 [GRCh38]
Chr9:137704540 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2925_2926dup (p.Gly976fs) |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV002867205] |
Chr9:134798433..134798434 [GRCh38]
Chr9:137690279..137690280 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.4190C>G (p.Pro1397Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003054325] |
Chr9:134817791 [GRCh38]
Chr9:137709637 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4566_4574del (p.Ser1524_Pro1526del) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002824712] |
Chr9:134822104..134822112 [GRCh38]
Chr9:137713950..137713958 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4392+18T>C |
single nucleotide variant |
not specified [RCV002510271] |
Chr9:134818919 [GRCh38]
Chr9:137710765 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2133+13G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003079921] |
Chr9:134766511 [GRCh38]
Chr9:137658357 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4585C>T (p.Pro1529Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002659703] |
Chr9:134822127 [GRCh38]
Chr9:137713973 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4015-1G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003020694] |
Chr9:134815575 [GRCh38]
Chr9:137707421 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.3258+13C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002695674] |
Chr9:134805227 [GRCh38]
Chr9:137697073 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4554+6T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002949565] |
Chr9:134820229 [GRCh38]
Chr9:137712075 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2899-12T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002867428] |
Chr9:134798396 [GRCh38]
Chr9:137690242 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.889G>A (p.Val297Met) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002780935] |
Chr9:134728772 [GRCh38]
Chr9:137620618 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1374A>G (p.Pro458=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003001883] |
Chr9:134732112 [GRCh38]
Chr9:137623958 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5360A>G (p.Asp1787Gly) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002913836] |
Chr9:134835194 [GRCh38]
Chr9:137727040 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2082A>G (p.Gly694=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002867938] |
Chr9:134765728 [GRCh38]
Chr9:137657574 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4408C>G (p.Pro1470Ala) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002824255] |
Chr9:134819015 [GRCh38]
Chr9:137710861 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.40C>T (p.Arg14Cys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002638843] |
Chr9:134642227 [GRCh38]
Chr9:137534073 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2316A>G (p.Gly772=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003054984] |
Chr9:134772819 [GRCh38]
Chr9:137664665 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3744+11C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002923430] |
Chr9:134812513 [GRCh38]
Chr9:137704359 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1548A>G (p.Pro516=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003085894] |
Chr9:134750595 [GRCh38]
Chr9:137642441 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2586G>A (p.Gly862=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002666985] |
Chr9:134785090 [GRCh38]
Chr9:137676936 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2489A>G (p.Glu830Gly) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003025536] |
Chr9:134784993 [GRCh38]
Chr9:137676839 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2182G>C (p.Ala728Pro) |
single nucleotide variant |
not provided [RCV003059933] |
Chr9:134767048 [GRCh38]
Chr9:137658894 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2799+10_2799+19del |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002933458] |
Chr9:134795325..134795334 [GRCh38]
Chr9:137687171..137687180 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2041C>G (p.Arg681Gly) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002624104] |
Chr9:134765687 [GRCh38]
Chr9:137657533 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5202G>C (p.Leu1734=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002663653] |
Chr9:134835036 [GRCh38]
Chr9:137726882 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1389+8C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002627349] |
Chr9:134732135 [GRCh38]
Chr9:137623981 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3475-4C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002933414] |
Chr9:134810251 [GRCh38]
Chr9:137702097 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4447-16C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002919205] |
Chr9:134820100 [GRCh38]
Chr9:137711946 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2929C>T (p.His977Tyr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002765916] |
Chr9:134798438 [GRCh38]
Chr9:137690284 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4122+12A>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002786751] |
Chr9:134816000 [GRCh38]
Chr9:137707846 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.519C>T (p.His173=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002801662] |
Chr9:134701198 [GRCh38]
Chr9:137593044 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.67CTG[4] (p.Leu27_Leu28del) |
microsatellite |
Ehlers-Danlos syndrome, classic type, 1 [RCV002801686] |
Chr9:134642253..134642258 [GRCh38]
Chr9:137534099..137534104 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3313G>A (p.Gly1105Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002829212]|Inborn genetic diseases [RCV003274048] |
Chr9:134806243 [GRCh38]
Chr9:137698089 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4123-4C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002710268] |
Chr9:134817022 [GRCh38]
Chr9:137708868 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4245G>C (p.Leu1415Phe) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003024212] |
Chr9:134818670 [GRCh38]
Chr9:137710516 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3738C>A (p.Gly1246=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002642585] |
Chr9:134812496 [GRCh38]
Chr9:137704342 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3258G>T (p.Ala1086=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003056655]|Familial thoracic aortic aneurysm and aortic dissection [RCV003377851] |
Chr9:134805214 [GRCh38]
Chr9:137697060 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1084G>A (p.Glu362Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002663398] |
Chr9:134730395 [GRCh38]
Chr9:137622241 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2952+10_2952+11delinsAT |
indel |
Ehlers-Danlos syndrome, classic type, 1 [RCV002891043] |
Chr9:134798471..134798472 [GRCh38]
Chr9:137690317..137690318 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2952T>C (p.Thr984=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002594817] |
Chr9:134798461 [GRCh38]
Chr9:137690307 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.576C>A (p.Asp192Glu) |
single nucleotide variant |
COL5A1-related condition [RCV003403887]|Ehlers-Danlos syndrome, classic type, 1 [RCV002700156] |
Chr9:134701255 [GRCh38]
Chr9:137593101 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.3907-15G>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002625108] |
Chr9:134814782 [GRCh38]
Chr9:137706628 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5033C>T (p.Ser1678Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003084266] |
Chr9:134825870 [GRCh38]
Chr9:137717716 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.616G>A (p.Val206Met) |
single nucleotide variant |
COL5A1-related condition [RCV003403996]|Ehlers-Danlos syndrome, classic type, 1 [RCV002982878] |
Chr9:134701295 [GRCh38]
Chr9:137593141 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.3474+20A>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003005158] |
Chr9:134809310 [GRCh38]
Chr9:137701156 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2899-19C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002574186] |
Chr9:134798389 [GRCh38]
Chr9:137690235 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4285_4286delinsTT (p.Gly1429Leu) |
indel |
Ehlers-Danlos syndrome, classic type, 1 [RCV002871879] |
Chr9:134818710..134818711 [GRCh38]
Chr9:137710556..137710557 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3386G>T (p.Gly1129Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003040264] |
Chr9:134809202 [GRCh38]
Chr9:137701048 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1990-7T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002575058] |
Chr9:134763686 [GRCh38]
Chr9:137655532 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3529-16G>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002918370] |
Chr9:134811323 [GRCh38]
Chr9:137703169 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4849T>A (p.Ser1617Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003007191] |
Chr9:134824750 [GRCh38]
Chr9:137716596 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1596G>A (p.Ala532=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002624222] |
Chr9:134750816 [GRCh38]
Chr9:137642662 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.491+11A>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002790200] |
Chr9:134700133 [GRCh38]
Chr9:137591979 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2188-11C>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002594835] |
Chr9:134767299 [GRCh38]
Chr9:137659145 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3662C>T (p.Pro1221Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003005687] |
Chr9:134811571 [GRCh38]
Chr9:137703417 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5274C>T (p.Gly1758=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002932040]|Familial thoracic aortic aneurysm and aortic dissection [RCV003167937] |
Chr9:134835108 [GRCh38]
Chr9:137726954 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.2845-13T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002625279] |
Chr9:134796835 [GRCh38]
Chr9:137688681 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.109+11C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002711029] |
Chr9:134642307 [GRCh38]
Chr9:137534153 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.71T>A (p.Leu24Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002933103] |
Chr9:134642258 [GRCh38]
Chr9:137534104 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2984C>T (p.Pro995Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002644036] |
Chr9:134801985 [GRCh38]
Chr9:137693831 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2431-13G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002802071] |
Chr9:134782654 [GRCh38]
Chr9:137674500 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1049C>T (p.Ser350Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003081814] |
Chr9:134730360 [GRCh38]
Chr9:137622206 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4987T>G (p.Ser1663Ala) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002594245] |
Chr9:134825824 [GRCh38]
Chr9:137717670 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4500G>A (p.Lys1500=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003041904] |
Chr9:134820169 [GRCh38]
Chr9:137712015 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5491G>A (p.Val1831Met) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002791020] |
Chr9:134842277 [GRCh38]
Chr9:137734123 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1193A>G (p.Asp398Gly) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002828199] |
Chr9:134731524 [GRCh38]
Chr9:137623370 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5354T>C (p.Leu1785Pro) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003083554] |
Chr9:134835188 [GRCh38]
Chr9:137727034 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2232+8G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003082040] |
Chr9:134767362 [GRCh38]
Chr9:137659208 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2331+4_2331+5dup |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV003025114] |
Chr9:134772836..134772837 [GRCh38]
Chr9:137664682..137664683 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.452A>G (p.Asp151Gly) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002932872] |
Chr9:134700083 [GRCh38]
Chr9:137591929 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2332-14C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003007687] |
Chr9:134774845 [GRCh38]
Chr9:137666691 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5370+19G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002624269] |
Chr9:134835223 [GRCh38]
Chr9:137727069 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.220G>A (p.Ala74Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003058282] |
Chr9:134691022 [GRCh38]
Chr9:137582868 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2T>G (p.Met1Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002829454] |
Chr9:134642189 [GRCh38]
Chr9:137534035 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.4289C>A (p.Ala1430Asp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002805406] |
Chr9:134818714 [GRCh38]
Chr9:137710560 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5414C>T (p.Pro1805Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002786597] |
Chr9:134842200 [GRCh38]
Chr9:137734046 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.495G>A (p.Trp165Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003058241] |
Chr9:134701174 [GRCh38]
Chr9:137593020 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.1881+4G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002985371] |
Chr9:134756822 [GRCh38]
Chr9:137648668 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4608+18G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002720844] |
Chr9:134822168 [GRCh38]
Chr9:137714014 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.499A>G (p.Arg167Gly) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002720883] |
Chr9:134701178 [GRCh38]
Chr9:137593024 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3772G>T (p.Gly1258Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003063932] |
Chr9:134812632 [GRCh38]
Chr9:137704478 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.4393-15del |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002810895] |
Chr9:134818985 [GRCh38]
Chr9:137710831 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1144G>T (p.Asp382Tyr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003061321] |
Chr9:134730455 [GRCh38]
Chr9:137622301 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2700+18C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002811548] |
Chr9:134789226 [GRCh38]
Chr9:137681072 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2899-7T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003064872] |
Chr9:134798401 [GRCh38]
Chr9:137690247 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2564C>A (p.Pro855His) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002857323] |
Chr9:134785068 [GRCh38]
Chr9:137676914 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.268C>T (p.Leu90=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002676603] |
Chr9:134691070 [GRCh38]
Chr9:137582916 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5009_5011dup (p.Tyr1670_Cys1671insTyr) |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV002811079] |
Chr9:134825844..134825845 [GRCh38]
Chr9:137717690..137717691 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4123-6T>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002963251] |
Chr9:134817020 [GRCh38]
Chr9:137708866 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1164+8del |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002877440] |
Chr9:134730483 [GRCh38]
Chr9:137622329 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4506C>T (p.Asp1502=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002857763] |
Chr9:134820175 [GRCh38]
Chr9:137712021 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1332+3G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002676221] |
Chr9:134731666 [GRCh38]
Chr9:137623512 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4525C>T (p.Gln1509Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002833966] |
Chr9:134820194 [GRCh38]
Chr9:137712040 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.959T>A (p.Met320Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003046814] |
Chr9:134730270 [GRCh38]
Chr9:137622116 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2088+16G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003089372] |
Chr9:134765750 [GRCh38]
Chr9:137657596 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.561C>G (p.Thr187=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002646143] |
Chr9:134701240 [GRCh38]
Chr9:137593086 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1333-20C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002877206] |
Chr9:134732051 [GRCh38]
Chr9:137623897 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3907-20C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002922718] |
Chr9:134814777 [GRCh38]
Chr9:137706623 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3896G>A (p.Gly1299Asp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002598564] |
Chr9:134814026 [GRCh38]
Chr9:137705872 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.104G>A (p.Arg35His) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002834040] |
Chr9:134642291 [GRCh38]
Chr9:137534137 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4954+11G>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002899738] |
Chr9:134824866 [GRCh38]
Chr9:137716712 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5052C>G (p.Asp1684Glu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002600124]|not provided [RCV003491127] |
Chr9:134825889 [GRCh38]
Chr9:137717735 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.4393-1G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002877297] |
Chr9:134818999 [GRCh38]
Chr9:137710845 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.1773+9G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003088934] |
Chr9:134753912 [GRCh38]
Chr9:137645758 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.787-13A>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002629268] |
Chr9:134728657 [GRCh38]
Chr9:137620503 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2431-13G>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002937202] |
Chr9:134782654 [GRCh38]
Chr9:137674500 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3788del (p.Pro1263fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV003010201] |
Chr9:134812647 [GRCh38]
Chr9:137704493 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.4132G>T (p.Gly1378Cys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002857444] |
Chr9:134817035 [GRCh38]
Chr9:137708881 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3953G>T (p.Gly1318Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003062814] |
Chr9:134814843 [GRCh38]
Chr9:137706689 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3475-7C>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002959218] |
Chr9:134810248 [GRCh38]
Chr9:137702094 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5236T>A (p.Cys1746Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003064251]|not provided [RCV003443110] |
Chr9:134835070 [GRCh38]
Chr9:137726916 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1863T>G (p.Pro621=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003029053] |
Chr9:134756800 [GRCh38]
Chr9:137648646 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.456C>A (p.Tyr152Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003064040] |
Chr9:134700087 [GRCh38]
Chr9:137591933 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.1569+15_1569+16inv |
inversion |
Ehlers-Danlos syndrome, classic type, 1 [RCV003029566] |
Chr9:134750631..134750632 [GRCh38]
Chr9:137642477..137642478 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5136+18G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002938734] |
Chr9:134830062 [GRCh38]
Chr9:137721908 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1322T>C (p.Ile441Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002857410] |
Chr9:134731653 [GRCh38]
Chr9:137623499 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3385G>A (p.Gly1129Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002877325] |
Chr9:134809201 [GRCh38]
Chr9:137701047 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4598dup (p.Gly1534fs) |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV003045192] |
Chr9:134822135..134822136 [GRCh38]
Chr9:137713981..137713982 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.1305G>A (p.Pro435=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002580418] |
Chr9:134731636 [GRCh38]
Chr9:137623482 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1819G>A (p.Gly607Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002628095] |
Chr9:134754318 [GRCh38]
Chr9:137646164 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.865G>T (p.Glu289Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002811132] |
Chr9:134728748 [GRCh38]
Chr9:137620594 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.786+11T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002580214] |
Chr9:134727408 [GRCh38]
Chr9:137619254 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.474_491+24del |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV002938029] |
Chr9:134700104..134700145 [GRCh38]
Chr9:137591950..137591991 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.2109C>T (p.Gly703=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002746532] |
Chr9:134766474 [GRCh38]
Chr9:137658320 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3813C>T (p.Pro1271=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003063858] |
Chr9:134812673 [GRCh38]
Chr9:137704519 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2798A>G (p.Lys933Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002599822] |
Chr9:134795314 [GRCh38]
Chr9:137687160 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3204+19G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002629550] |
Chr9:134805083 [GRCh38]
Chr9:137696929 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1687C>T (p.Pro563Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002720697] |
Chr9:134752613 [GRCh38]
Chr9:137644459 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5068-19C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002632513] |
Chr9:134829957 [GRCh38]
Chr9:137721803 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3807A>G (p.Gln1269=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002746361] |
Chr9:134812667 [GRCh38]
Chr9:137704513 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.861G>T (p.Gly287=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002899467] |
Chr9:134728744 [GRCh38]
Chr9:137620590 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.278-9C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003065597] |
Chr9:134699900 [GRCh38]
Chr9:137591746 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3414G>A (p.Gly1138=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002629618] |
Chr9:134809230 [GRCh38]
Chr9:137701076 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3367-7T>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002605256] |
Chr9:134809176 [GRCh38]
Chr9:137701022 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2593-10C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003067470] |
Chr9:134785985 [GRCh38]
Chr9:137677831 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1881+14C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002583486] |
Chr9:134756832 [GRCh38]
Chr9:137648678 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3466G>A (p.Gly1156Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002583496] |
Chr9:134809282 [GRCh38]
Chr9:137701128 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3474+5G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002654629] |
Chr9:134809295 [GRCh38]
Chr9:137701141 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.43C>T (p.Pro15Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003068426] |
Chr9:134642230 [GRCh38]
Chr9:137534076 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2565C>T (p.Pro855=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002606342] |
Chr9:134785069 [GRCh38]
Chr9:137676915 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3055C>A (p.Pro1019Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002725437] |
Chr9:134802936 [GRCh38]
Chr9:137694782 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2385+3G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002944108] |
Chr9:134774915 [GRCh38]
Chr9:137666761 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1596G>T (p.Ala532=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002605892] |
Chr9:134750816 [GRCh38]
Chr9:137642662 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3899G>C (p.Gly1300Ala) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003049961] |
Chr9:134814029 [GRCh38]
Chr9:137705875 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3115-4T>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002654973] |
Chr9:134804971 [GRCh38]
Chr9:137696817 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4231-3C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003092380] |
Chr9:134818653 [GRCh38]
Chr9:137710499 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1990-9C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003072575] |
Chr9:134763684 [GRCh38]
Chr9:137655530 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4081C>T (p.Pro1361Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003050318] |
Chr9:134815947 [GRCh38]
Chr9:137707793 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5137-18A>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003068355] |
Chr9:134834953 [GRCh38]
Chr9:137726799 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2390C>A (p.Ala797Asp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003032270] |
Chr9:134780106 [GRCh38]
Chr9:137671952 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5370+17G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003067647] |
Chr9:134835221 [GRCh38]
Chr9:137727067 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1735G>A (p.Gly579Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002606526] |
Chr9:134753865 [GRCh38]
Chr9:137645711 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1611dup (p.Met538fs) |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV003052536] |
Chr9:134750827..134750828 [GRCh38]
Chr9:137642673..137642674 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.5061C>T (p.Ser1687=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003067227]|Familial thoracic aortic aneurysm and aortic dissection [RCV003294439] |
Chr9:134825898 [GRCh38]
Chr9:137717744 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4955-15G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003067884] |
Chr9:134825777 [GRCh38]
Chr9:137717623 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3205-5T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002680714] |
Chr9:134805156 [GRCh38]
Chr9:137697002 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1573C>T (p.Arg525Trp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002585410] |
Chr9:134750793 [GRCh38]
Chr9:137642639 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4694C>T (p.Pro1565Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002721956] |
Chr9:134823465 [GRCh38]
Chr9:137715311 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4699-19C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002587276] |
Chr9:134824581 [GRCh38]
Chr9:137716427 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.49G>T (p.Ala17Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003071277] |
Chr9:134642236 [GRCh38]
Chr9:137534082 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| NM_000093.5(COL5A1):c.5390A>G (p.Lys1797Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002611110] |
Chr9:134842176 [GRCh38]
Chr9:137734022 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.291C>T (p.Pro97=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003066745] |
Chr9:134699922 [GRCh38]
Chr9:137591768 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3757C>T (p.Pro1253Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003071964] |
Chr9:134812617 [GRCh38]
Chr9:137704463 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5464G>A (p.Glu1822Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002944017] |
Chr9:134842250 [GRCh38]
Chr9:137734096 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.576C>T (p.Asp192=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002609719] |
Chr9:134701255 [GRCh38]
Chr9:137593101 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2688G>A (p.Glu896=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002944306]|Familial thoracic aortic aneurysm and aortic dissection [RCV003308387] |
Chr9:134789196 [GRCh38]
Chr9:137681042 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2845-18G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002589695] |
Chr9:134796830 [GRCh38]
Chr9:137688676 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2647-16T>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002603003] |
Chr9:134789139 [GRCh38]
Chr9:137680985 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2284C>A (p.Pro762Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002586083] |
Chr9:134768461 [GRCh38]
Chr9:137660307 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.53C>G (p.Pro18Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002612610] |
Chr9:134642240 [GRCh38]
Chr9:137534086 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.*1786C>G |
single nucleotide variant |
not provided [RCV003145719] |
Chr9:134844089 [GRCh38]
Chr9:137735935 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.109+8179C>T |
single nucleotide variant |
not provided [RCV003145720] |
Chr9:134650475 [GRCh38]
Chr9:137542321 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2089-62C>T |
single nucleotide variant |
not provided [RCV003145722] |
Chr9:134766392 [GRCh38]
Chr9:137658238 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1671G>A (p.Leu557=) |
single nucleotide variant |
not provided [RCV003145721] |
Chr9:134752597 [GRCh38]
Chr9:137644443 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4864A>C (p.Ile1622Leu) |
single nucleotide variant |
not provided [RCV003145724] |
Chr9:134824765 [GRCh38]
Chr9:137716611 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5136+117C>T |
single nucleotide variant |
not provided [RCV003149503] |
Chr9:134830161 [GRCh38]
Chr9:137722007 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1937G>A (p.Gly646Asp) |
single nucleotide variant |
not provided [RCV003154469] |
Chr9:134761926 [GRCh38]
Chr9:137653772 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1195G>A (p.Asp399Asn) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003181586] |
Chr9:134731526 [GRCh38]
Chr9:137623372 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.-1C>A |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003181587] |
Chr9:134642187 [GRCh38]
Chr9:137534033 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1689G>A (p.Pro563=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003181588] |
Chr9:134752615 [GRCh38]
Chr9:137644461 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.279G>T (p.Ala93=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003181589] |
Chr9:134699910 [GRCh38]
Chr9:137591756 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3561C>T (p.Pro1187=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003181590] |
Chr9:134811371 [GRCh38]
Chr9:137703217 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1724C>G (p.Pro575Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003181594] |
Chr9:134753854 [GRCh38]
Chr9:137645700 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1788G>T (p.Val596=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003181595] |
Chr9:134754287 [GRCh38]
Chr9:137646133 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3408C>G (p.Leu1136=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003181596] |
Chr9:134809224 [GRCh38]
Chr9:137701070 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.585C>T (p.Asp195=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003181598] |
Chr9:134701264 [GRCh38]
Chr9:137593110 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2512G>A (p.Gly838Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003228770] |
Chr9:134785016 [GRCh38]
Chr9:137676862 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.1078G>T (p.Gly360Trp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759801]|Familial thoracic aortic aneurysm and aortic dissection [RCV003216512] |
Chr9:134730389 [GRCh38]
Chr9:137622235 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.658G>A (p.Asp220Asn) |
single nucleotide variant |
not provided [RCV003228548] |
Chr9:134727269 [GRCh38]
Chr9:137619115 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3483C>G (p.Ile1161Met) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003168242] |
Chr9:134810263 [GRCh38]
Chr9:137702109 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1014T>C (p.Tyr338=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003181591] |
Chr9:134730325 [GRCh38]
Chr9:137622171 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4686C>T (p.Pro1562=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594321]|Familial thoracic aortic aneurysm and aortic dissection [RCV003181592] |
Chr9:134823457 [GRCh38]
Chr9:137715303 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.527A>G (p.Asn176Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759781]|Familial thoracic aortic aneurysm and aortic dissection [RCV003181593] |
Chr9:134701206 [GRCh38]
Chr9:137593052 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.615C>T (p.Ile205=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594322]|Familial thoracic aortic aneurysm and aortic dissection [RCV003181597] |
Chr9:134701294 [GRCh38]
Chr9:137593140 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5375A>G (p.Lys1792Arg) |
single nucleotide variant |
not provided [RCV003227422] |
Chr9:134842161 [GRCh38]
Chr9:137734007 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2019del (p.Leu674fs) |
deletion |
not provided [RCV003143678] |
Chr9:134763718 [GRCh38]
Chr9:137655564 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.1703G>T (p.Gly568Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003142285] |
Chr9:134752629 [GRCh38]
Chr9:137644475 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2151T>C (p.Pro717=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759806]|Familial thoracic aortic aneurysm and aortic dissection [RCV003301396] |
Chr9:134767017 [GRCh38]
Chr9:137658863 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.105C>T (p.Arg35=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003301397] |
Chr9:134642292 [GRCh38]
Chr9:137534138 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4609-3C>T |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003301398] |
Chr9:134822995 [GRCh38]
Chr9:137714841 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4000C>A (p.Pro1334Thr) |
single nucleotide variant |
not provided [RCV003228472] |
Chr9:134814890 [GRCh38]
Chr9:137706736 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.779A>T (p.Asp260Val) |
single nucleotide variant |
not provided [RCV003225521] |
Chr9:134727390 [GRCh38]
Chr9:137619236 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.346C>T (p.Leu116=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594637]|Familial thoracic aortic aneurysm and aortic dissection [RCV003216509] |
Chr9:134699977 [GRCh38]
Chr9:137591823 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1152C>T (p.Ser384=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003216508] |
Chr9:134730463 [GRCh38]
Chr9:137622309 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1094A>T (p.Asp365Val) |
single nucleotide variant |
not provided [RCV003321419] |
Chr9:134730405 [GRCh38]
Chr9:137622251 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4893G>A (p.Thr1631=) |
single nucleotide variant |
not specified [RCV003324190] |
Chr9:134824794 [GRCh38]
Chr9:137716640 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2485-14T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594647]|not specified [RCV003324291] |
Chr9:134784975 [GRCh38]
Chr9:137676821 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.2134-2_2150dup |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV003322718] |
Chr9:134766997..134766998 [GRCh38]
Chr9:137658843..137658844 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.71_74delinsCCCC (p.Leu24_Leu25delinsProPro) |
indel |
not provided [RCV003324914] |
Chr9:134642258..134642261 [GRCh38]
Chr9:137534104..137534107 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1724C>A (p.Pro575His) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759814]|not provided [RCV003319124] |
Chr9:134753854 [GRCh38]
Chr9:137645700 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.2647G>A (p.Gly883Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003852655] |
Chr9:134789155 [GRCh38]
Chr9:137681001 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4151G>T (p.Gly1384Val) |
single nucleotide variant |
not provided [RCV003325169] |
Chr9:134817054 [GRCh38]
Chr9:137708900 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2187+19G>A |
single nucleotide variant |
not specified [RCV003324256] |
Chr9:134767072 [GRCh38]
Chr9:137658918 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4503C>T (p.Gly1501=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003777351]|not specified [RCV003324239] |
Chr9:134820172 [GRCh38]
Chr9:137712018 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2440_2447dup (p.Gly817fs) |
duplication |
not provided [RCV003322192] |
Chr9:134782674..134782675 [GRCh38]
Chr9:137674520..137674521 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.277+15C>A |
single nucleotide variant |
not specified [RCV003324271] |
Chr9:134691094 [GRCh38]
Chr9:137582940 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1021G>T (p.Val341Leu) |
single nucleotide variant |
not provided [RCV003329870] |
Chr9:134730332 [GRCh38]
Chr9:137622178 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.695C>A (p.Ala232Glu) |
single nucleotide variant |
not provided [RCV003325897] |
Chr9:134727306 [GRCh38]
Chr9:137619152 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1017C>T (p.Asp339=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003380212] |
Chr9:134730328 [GRCh38]
Chr9:137622174 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1332+16C>T |
single nucleotide variant |
not specified [RCV003332025] |
Chr9:134731679 [GRCh38]
Chr9:137623525 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1359C>G (p.Gly453=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003380210] |
Chr9:134732097 [GRCh38]
Chr9:137623943 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.19T>C (p.Trp7Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003380209] |
Chr9:134642206 [GRCh38]
Chr9:137534052 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.433G>A (p.Gly145Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003380207] |
Chr9:134700064 [GRCh38]
Chr9:137591910 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1206G>T (p.Gly402=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003380211] |
Chr9:134731537 [GRCh38]
Chr9:137623383 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.539T>C (p.Ile180Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594650]|not specified [RCV003331732] |
Chr9:134701218 [GRCh38]
Chr9:137593064 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2982C>G (p.Gly994=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759834]|Familial thoracic aortic aneurysm and aortic dissection [RCV003385847] |
Chr9:134801983 [GRCh38]
Chr9:137693829 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1781G>A (p.Arg594Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003444476] |
Chr9:134754280 [GRCh38]
Chr9:137646126 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3072T>C (p.Gly1024=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV003386856] |
Chr9:134802953 [GRCh38]
Chr9:137694799 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1719+14A>G |
single nucleotide variant |
not specified [RCV003489654] |
Chr9:134752659 [GRCh38]
Chr9:137644505 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.64C>G (p.Pro22Ala) |
single nucleotide variant |
not provided [RCV003481953] |
Chr9:134642251 [GRCh38]
Chr9:137534097 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3741G>T (p.Gln1247His) |
single nucleotide variant |
not provided [RCV003481956] |
Chr9:134812499 [GRCh38]
Chr9:137704345 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.867G>A (p.Glu289=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003873700] |
Chr9:134728750 [GRCh38]
Chr9:137620596 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1228C>G (p.Arg410Gly) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003873838] |
Chr9:134731559 [GRCh38]
Chr9:137623405 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2035-13T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003874334] |
Chr9:134765668 [GRCh38]
Chr9:137657514 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4651A>G (p.Thr1551Ala) |
single nucleotide variant |
not provided [RCV003481957] |
Chr9:134823422 [GRCh38]
Chr9:137715268 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3528+4_3528+7dup |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV003444538] |
Chr9:134810308..134810309 [GRCh38]
Chr9:137702154..137702155 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4176+1G>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003388241] |
Chr9:134817080 [GRCh38]
Chr9:137708926 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.4065del (p.Ala1356fs) |
deletion |
not provided [RCV003480483] |
Chr9:134815623 [GRCh38]
Chr9:137707469 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.4751G>C (p.Arg1584Pro) |
single nucleotide variant |
COL5A1-related condition [RCV003397547]|Ehlers-Danlos syndrome, classic type, 1 [RCV003759838] |
Chr9:134824652 [GRCh38]
Chr9:137716498 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4994A>T (p.Asp1665Val) |
single nucleotide variant |
not specified [RCV003479708] |
Chr9:134825831 [GRCh38]
Chr9:137717677 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3526C>T (p.Gln1176Ter) |
single nucleotide variant |
not provided [RCV003480482] |
Chr9:134810306 [GRCh38]
Chr9:137702152 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| 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_000093.5(COL5A1):c.4820del (p.Gly1607fs) |
deletion |
not provided [RCV003480484] |
Chr9:134824720 [GRCh38]
Chr9:137716566 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.3167G>T (p.Arg1056Leu) |
single nucleotide variant |
not provided [RCV003481955] |
Chr9:134805027 [GRCh38]
Chr9:137696873 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4921G>A (p.Asp1641Asn) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003880257] |
Chr9:134824822 [GRCh38]
Chr9:137716668 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.859G>A (p.Gly287Arg) |
single nucleotide variant |
not provided [RCV003481954] |
Chr9:134728742 [GRCh38]
Chr9:137620588 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3665G>A (p.Gly1222Glu) |
single nucleotide variant |
COL5A1-related condition [RCV003412314] |
Chr9:134811574 [GRCh38]
Chr9:137703420 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2378G>A (p.Gly793Glu) |
single nucleotide variant |
COL5A1-related condition [RCV003397469] |
Chr9:134774905 [GRCh38]
Chr9:137666751 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.2335C>T (p.Pro779Ser) |
single nucleotide variant |
COL5A1-related condition [RCV003397578] |
Chr9:134774862 [GRCh38]
Chr9:137666708 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2332-9T>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003447869] |
Chr9:134774850 [GRCh38]
Chr9:137666696 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5136+105G>A |
single nucleotide variant |
not provided [RCV003443411] |
Chr9:134830149 [GRCh38]
Chr9:137721995 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2149C>T (p.Pro717Ser) |
single nucleotide variant |
not provided [RCV003441566] |
Chr9:134767015 [GRCh38]
Chr9:137658861 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4446G>C (p.Lys1482Asn) |
single nucleotide variant |
COL5A1-related condition [RCV003399893] |
Chr9:134819053 [GRCh38]
Chr9:137710899 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2331+1G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003448523] |
Chr9:134772835 [GRCh38]
Chr9:137664681 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.338A>G (p.Gln113Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003829393] |
Chr9:134699969 [GRCh38]
Chr9:137591815 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4609-12CT[3] |
microsatellite |
Ehlers-Danlos syndrome, classic type, 1 [RCV003828977] |
Chr9:134822986..134822987 [GRCh38]
Chr9:137714832..137714833 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2134-4G>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003828861] |
Chr9:134766996 [GRCh38]
Chr9:137658842 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4554+20T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003880633] |
Chr9:134820243 [GRCh38]
Chr9:137712089 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3384A>G (p.Gln1128=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003876576] |
Chr9:134809200 [GRCh38]
Chr9:137701046 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4572T>C (p.Ser1524=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003876605] |
Chr9:134822114 [GRCh38]
Chr9:137713960 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2287-12C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003827089] |
Chr9:134772778 [GRCh38]
Chr9:137664624 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3353A>T (p.Glu1118Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003882387] |
Chr9:134806283 [GRCh38]
Chr9:137698129 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2870C>T (p.Thr957Ile) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003878454] |
Chr9:134796873 [GRCh38]
Chr9:137688719 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.655-20G>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003825938] |
Chr9:134727246 [GRCh38]
Chr9:137619092 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5370+16C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003826602] |
Chr9:134835220 [GRCh38]
Chr9:137727066 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2047C>T (p.Leu683=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003827613] |
Chr9:134765693 [GRCh38]
Chr9:137657539 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3582+18A>G |
single nucleotide variant |
not specified [RCV003494346] |
Chr9:134811410 [GRCh38]
Chr9:137703256 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1796C>T (p.Pro599Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003828168] |
Chr9:134754295 [GRCh38]
Chr9:137646141 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2700+19C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003877982] |
Chr9:134789227 [GRCh38]
Chr9:137681073 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.278-1G>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003761195] |
Chr9:134699908 [GRCh38]
Chr9:137591754 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.654+14C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593621] |
Chr9:134701347 [GRCh38]
Chr9:137593193 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5093A>G (p.Glu1698Gly) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003850228] |
Chr9:134830001 [GRCh38]
Chr9:137721847 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3007-15T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595002] |
Chr9:134802873 [GRCh38]
Chr9:137694719 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1066_1068del (p.Thr356del) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595004] |
Chr9:134730376..134730378 [GRCh38]
Chr9:137622222..137622224 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1115C>G (p.Ala372Gly) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593676] |
Chr9:134730426 [GRCh38]
Chr9:137622272 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1165-11T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595108] |
Chr9:134731485 [GRCh38]
Chr9:137623331 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5136G>T (p.Leu1712=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593753] |
Chr9:134830044 [GRCh38]
Chr9:137721890 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.277+10G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595188] |
Chr9:134691089 [GRCh38]
Chr9:137582935 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3G>T (p.Met1Ile) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593689] |
Chr9:134642190 [GRCh38]
Chr9:137534036 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.544G>T (p.Asp182Tyr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595143] |
Chr9:134701223 [GRCh38]
Chr9:137593069 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1390-14C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595250] |
Chr9:134738460 [GRCh38]
Chr9:137630306 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4177-16C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595290] |
Chr9:134817762 [GRCh38]
Chr9:137709608 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4338+7A>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595237] |
Chr9:134818770 [GRCh38]
Chr9:137710616 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3474+6G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595358] |
Chr9:134809296 [GRCh38]
Chr9:137701142 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5155G>A (p.Glu1719Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595333] |
Chr9:134834989 [GRCh38]
Chr9:137726835 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3258+20C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595392] |
Chr9:134805234 [GRCh38]
Chr9:137697080 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2115G>A (p.Pro705=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595418] |
Chr9:134766480 [GRCh38]
Chr9:137658326 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3607C>T (p.Arg1203Trp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595380] |
Chr9:134811516 [GRCh38]
Chr9:137703362 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3847G>A (p.Glu1283Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595391] |
Chr9:134812707 [GRCh38]
Chr9:137704553 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1165-20G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595424] |
Chr9:134731476 [GRCh38]
Chr9:137623322 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1773+17C>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595444] |
Chr9:134753920 [GRCh38]
Chr9:137645766 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.278-4C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595458] |
Chr9:134699905 [GRCh38]
Chr9:137591751 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4938C>T (p.His1646=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003811476] |
Chr9:134824839 [GRCh38]
Chr9:137716685 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.786+15G>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595432] |
Chr9:134727412 [GRCh38]
Chr9:137619258 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.925-12C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595438] |
Chr9:134730224 [GRCh38]
Chr9:137622070 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3204+18C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595385] |
Chr9:134805082 [GRCh38]
Chr9:137696928 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5086C>T (p.Pro1696Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595518] |
Chr9:134829994 [GRCh38]
Chr9:137721840 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2953-10C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003849498] |
Chr9:134801944 [GRCh38]
Chr9:137693790 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2703G>C (p.Gly901=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595526] |
Chr9:134795084 [GRCh38]
Chr9:137686930 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.110-14C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595534] |
Chr9:134690898 [GRCh38]
Chr9:137582744 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1113C>T (p.Gly371=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594395] |
Chr9:134730424 [GRCh38]
Chr9:137622270 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2800-15_2800-14del |
microsatellite |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594436] |
Chr9:134796356..134796357 [GRCh38]
Chr9:137688202..137688203 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4821C>T (p.Gly1607=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594393] |
Chr9:134824722 [GRCh38]
Chr9:137716568 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3366+20G>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594466] |
Chr9:134806316 [GRCh38]
Chr9:137698162 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2895C>T (p.Pro965=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594459] |
Chr9:134796898 [GRCh38]
Chr9:137688744 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2042G>T (p.Arg681Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594432] |
Chr9:134765688 [GRCh38]
Chr9:137657534 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2487G>A (p.Gly829=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594592] |
Chr9:134784991 [GRCh38]
Chr9:137676837 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1842T>G (p.Ser614Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003761142] |
Chr9:134756779 [GRCh38]
Chr9:137648625 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2346C>T (p.Pro782=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003761035] |
Chr9:134774873 [GRCh38]
Chr9:137666719 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2535A>G (p.Pro845=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003761127] |
Chr9:134785039 [GRCh38]
Chr9:137676885 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1608C>A (p.Gly536=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003761150] |
Chr9:134750828 [GRCh38]
Chr9:137642674 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3259-12G>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003761130] |
Chr9:134806177 [GRCh38]
Chr9:137698023 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2799+12_2799+13delinsCT |
indel |
Ehlers-Danlos syndrome, classic type, 1 [RCV003761134] |
Chr9:134795327..134795328 [GRCh38]
Chr9:137687173..137687174 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1654C>T (p.Gln552Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593380] |
Chr9:134750874 [GRCh38]
Chr9:137642720 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.925-11T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594758] |
Chr9:134730225 [GRCh38]
Chr9:137622071 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3637G>A (p.Gly1213Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594770] |
Chr9:134811546 [GRCh38]
Chr9:137703392 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4645-12C>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594593] |
Chr9:134823404 [GRCh38]
Chr9:137715250 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4231-2A>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003761084] |
Chr9:134818654 [GRCh38]
Chr9:137710500 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.3205-1G>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593381] |
Chr9:134805160 [GRCh38]
Chr9:137697006 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.2997C>G (p.Val999=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593388] |
Chr9:134801998 [GRCh38]
Chr9:137693844 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3566del (p.Gly1189fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594782] |
Chr9:134811375 [GRCh38]
Chr9:137703221 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.3007-17A>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594806] |
Chr9:134802871 [GRCh38]
Chr9:137694717 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1173G>A (p.Pro391=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593456] |
Chr9:134731504 [GRCh38]
Chr9:137623350 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.63C>T (p.Pro21=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593492] |
Chr9:134642250 [GRCh38]
Chr9:137534096 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.708C>A (p.Tyr236Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594876] |
Chr9:134727319 [GRCh38]
Chr9:137619165 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.1454C>T (p.Thr485Ile) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593467] |
Chr9:134738768 [GRCh38]
Chr9:137630614 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1075G>C (p.Glu359Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593471] |
Chr9:134730386 [GRCh38]
Chr9:137622232 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4176+11C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594735] |
Chr9:134817090 [GRCh38]
Chr9:137708936 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2800-13_2800-4del |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593531] |
Chr9:134796354..134796363 [GRCh38]
Chr9:137688200..137688209 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1432-8A>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593457] |
Chr9:134738738 [GRCh38]
Chr9:137630584 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2287-7G>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594888] |
Chr9:134772783 [GRCh38]
Chr9:137664629 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3007-7C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593503] |
Chr9:134802881 [GRCh38]
Chr9:137694727 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2275G>C (p.Asp759His) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593538] |
Chr9:134768452 [GRCh38]
Chr9:137660298 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1762G>A (p.Val588Met) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594935] |
Chr9:134753892 [GRCh38]
Chr9:137645738 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2777T>C (p.Ile926Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593585] |
Chr9:134795293 [GRCh38]
Chr9:137687139 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.921C>A (p.Pro307=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593640] |
Chr9:134728804 [GRCh38]
Chr9:137620650 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2202C>T (p.Pro734=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593662] |
Chr9:134767324 [GRCh38]
Chr9:137659170 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1252G>A (p.Asp418Asn) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594986] |
Chr9:134731583 [GRCh38]
Chr9:137623429 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2430+11C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595013] |
Chr9:134780157 [GRCh38]
Chr9:137672003 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.857T>C (p.Leu286Pro) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594929] |
Chr9:134728740 [GRCh38]
Chr9:137620586 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.731G>C (p.Cys244Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003761021] |
Chr9:134727342 [GRCh38]
Chr9:137619188 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2918dup (p.Leu974fs) |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594583] |
Chr9:134798425..134798426 [GRCh38]
Chr9:137690271..137690272 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.4095A>G (p.Lys1365=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003761075] |
Chr9:134815961 [GRCh38]
Chr9:137707807 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5241C>G (p.Tyr1747Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593787] |
Chr9:134835075 [GRCh38]
Chr9:137726921 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.2953-14CT[3] |
microsatellite |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595165] |
Chr9:134801940..134801941 [GRCh38]
Chr9:137693786..137693787 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2430+5G>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003817208] |
Chr9:134780151 [GRCh38]
Chr9:137671997 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3535C>T (p.Pro1179Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003761167] |
Chr9:134811345 [GRCh38]
Chr9:137703191 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1020C>T (p.Tyr340=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594745] |
Chr9:134730331 [GRCh38]
Chr9:137622177 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.188C>T (p.Ala63Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595308] |
Chr9:134690990 [GRCh38]
Chr9:137582836 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1828-11C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003854396] |
Chr9:134756754 [GRCh38]
Chr9:137648600 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2426A>G (p.Glu809Gly) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593367] |
Chr9:134780142 [GRCh38]
Chr9:137671988 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4916G>A (p.Cys1639Tyr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593382] |
Chr9:134824817 [GRCh38]
Chr9:137716663 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.1161C>T (p.Ser387=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594766] |
Chr9:134730472 [GRCh38]
Chr9:137622318 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4231-7C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595316] |
Chr9:134818649 [GRCh38]
Chr9:137710495 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4191C>T (p.Pro1397=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595319] |
Chr9:134817792 [GRCh38]
Chr9:137709638 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5513G>A (p.Gly1838Asp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595328] |
Chr9:134842299 [GRCh38]
Chr9:137734145 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3292G>T (p.Ala1098Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003761146] |
Chr9:134806222 [GRCh38]
Chr9:137698068 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2088+18C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594793] |
Chr9:134765752 [GRCh38]
Chr9:137657598 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4554+16C>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595364] |
Chr9:134820239 [GRCh38]
Chr9:137712085 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2187+20G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595370] |
Chr9:134767073 [GRCh38]
Chr9:137658919 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1389+15T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595281] |
Chr9:134732142 [GRCh38]
Chr9:137623988 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2646+30_2646+93del |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595382] |
Chr9:134786058..134786121 [GRCh38]
Chr9:137677904..137677967 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2845-17C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003838270] |
Chr9:134796831 [GRCh38]
Chr9:137688677 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3583-17C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593435] |
Chr9:134811475 [GRCh38]
Chr9:137703321 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4523C>T (p.Pro1508Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593437] |
Chr9:134820192 [GRCh38]
Chr9:137712038 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.5136+15G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003812115] |
Chr9:134830059 [GRCh38]
Chr9:137721905 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3703C>T (p.Pro1235Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003814580] |
Chr9:134812461 [GRCh38]
Chr9:137704307 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4073A>C (p.Gln1358Pro) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593455] |
Chr9:134815939 [GRCh38]
Chr9:137707785 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2277C>T (p.Asp759=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593464] |
Chr9:134768454 [GRCh38]
Chr9:137660300 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4058C>T (p.Pro1353Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593433] |
Chr9:134815619 [GRCh38]
Chr9:137707465 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2034+2T>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594715] |
Chr9:134763739 [GRCh38]
Chr9:137655585 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.2646+13C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593526] |
Chr9:134786061 [GRCh38]
Chr9:137677907 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.960G>A (p.Met320Ile) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593534] |
Chr9:134730271 [GRCh38]
Chr9:137622117 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.787-15G>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593555] |
Chr9:134728655 [GRCh38]
Chr9:137620501 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2830C>T (p.Pro944Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595541] |
Chr9:134796404 [GRCh38]
Chr9:137688250 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4641C>G (p.Ser1547=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593489] |
Chr9:134823030 [GRCh38]
Chr9:137714876 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3270G>A (p.Gly1090=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593581] |
Chr9:134806200 [GRCh38]
Chr9:137698046 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4392+10A>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594373] |
Chr9:134818911 [GRCh38]
Chr9:137710757 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4415_4416insTTTG (p.Lys1473fs) |
insertion |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594374] |
Chr9:134819022..134819023 [GRCh38]
Chr9:137710868..137710869 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.5430G>A (p.Val1810=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003840043] |
Chr9:134842216 [GRCh38]
Chr9:137734062 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4255C>T (p.Pro1419Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593603] |
Chr9:134818680 [GRCh38]
Chr9:137710526 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.830A>G (p.Tyr277Cys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594419] |
Chr9:134728713 [GRCh38]
Chr9:137620559 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3853-20C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003840519] |
Chr9:134813963 [GRCh38]
Chr9:137705809 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2700+19dup |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593422] |
Chr9:134789223..134789224 [GRCh38]
Chr9:137681069..137681070 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.547_576dup (p.Asp192_Arg193insCysLysLysLysThrThrLysPheLeuAsp) |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594453] |
Chr9:134701217..134701218 [GRCh38]
Chr9:137593063..137593064 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4743C>T (p.Ser1581=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593741] |
Chr9:134824644 [GRCh38]
Chr9:137716490 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3853-8C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594495] |
Chr9:134813975 [GRCh38]
Chr9:137705821 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1078G>A (p.Gly360Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003761001] |
Chr9:134730389 [GRCh38]
Chr9:137622235 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3528+14C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593773] |
Chr9:134810322 [GRCh38]
Chr9:137702168 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2970C>T (p.Thr990=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594570] |
Chr9:134801971 [GRCh38]
Chr9:137693817 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1274G>A (p.Ser425Asn) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594575] |
Chr9:134731605 [GRCh38]
Chr9:137623451 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5028G>A (p.Gly1676=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595127] |
Chr9:134825865 [GRCh38]
Chr9:137717711 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3546A>T (p.Thr1182=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003815029] |
Chr9:134811356 [GRCh38]
Chr9:137703202 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4698+6T>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595369] |
Chr9:134823475 [GRCh38]
Chr9:137715321 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.924+17G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003840204] |
Chr9:134728824 [GRCh38]
Chr9:137620670 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1057G>C (p.Asp353His) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594370] |
Chr9:134730368 [GRCh38]
Chr9:137622214 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2430+19_2430+20delinsTT |
indel |
Ehlers-Danlos syndrome, classic type, 1 [RCV003811608] |
Chr9:134780165..134780166 [GRCh38]
Chr9:137672011..137672012 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4053A>C (p.Gly1351=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003816038] |
Chr9:134815614 [GRCh38]
Chr9:137707460 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2177del (p.Pro726fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760998] |
Chr9:134767042 [GRCh38]
Chr9:137658888 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.2188-9C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003761028] |
Chr9:134767301 [GRCh38]
Chr9:137659147 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2952+16del |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594732] |
Chr9:134798477 [GRCh38]
Chr9:137690323 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3236C>A (p.Pro1079His) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594587] |
Chr9:134805192 [GRCh38]
Chr9:137697038 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2233-13T>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594859] |
Chr9:134768397 [GRCh38]
Chr9:137660243 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4447-17T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594866] |
Chr9:134820099 [GRCh38]
Chr9:137711945 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.164T>A (p.Ile55Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594872] |
Chr9:134690966 [GRCh38]
Chr9:137582812 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2891G>T (p.Gly964Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594875] |
Chr9:134796894 [GRCh38]
Chr9:137688740 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3553C>T (p.Gln1185Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594877] |
Chr9:134811363 [GRCh38]
Chr9:137703209 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.2841A>G (p.Glu947=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594949] |
Chr9:134796415 [GRCh38]
Chr9:137688261 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4608+19C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595259] |
Chr9:134822169 [GRCh38]
Chr9:137714015 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4962C>A (p.Tyr1654Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595294] |
Chr9:134825799 [GRCh38]
Chr9:137717645 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.5105C>T (p.Ser1702Phe) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593536] |
Chr9:134830013 [GRCh38]
Chr9:137721859 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4230+7T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593718] |
Chr9:134817838 [GRCh38]
Chr9:137709684 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3878C>T (p.Pro1293Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003855445] |
Chr9:134814008 [GRCh38]
Chr9:137705854 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2429_2430+26del |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593748] |
Chr9:134780145..134780172 [GRCh38]
Chr9:137671991..137672018 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.5067+5G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593803] |
Chr9:134825909 [GRCh38]
Chr9:137717755 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4083C>A (p.Pro1361=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003761009] |
Chr9:134815949 [GRCh38]
Chr9:137707795 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3115-12C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003761085] |
Chr9:134804963 [GRCh38]
Chr9:137696809 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4368C>G (p.Gly1456=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003761034] |
Chr9:134818877 [GRCh38]
Chr9:137710723 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3085C>T (p.Pro1029Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594720] |
Chr9:134802966 [GRCh38]
Chr9:137694812 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5358G>A (p.Val1786=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595289] |
Chr9:134835192 [GRCh38]
Chr9:137727038 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.722G>A (p.Ser241Asn) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595332] |
Chr9:134727333 [GRCh38]
Chr9:137619179 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1569+15C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593371] |
Chr9:134750631 [GRCh38]
Chr9:137642477 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5494G>C (p.Gly1832Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595329] |
Chr9:134842280 [GRCh38]
Chr9:137734126 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2286+8G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593436] |
Chr9:134768471 [GRCh38]
Chr9:137660317 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1553C>T (p.Thr518Ile) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594834] |
Chr9:134750600 [GRCh38]
Chr9:137642446 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2285C>A (p.Pro762Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594847] |
Chr9:134768462 [GRCh38]
Chr9:137660308 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4644G>A (p.Ser1548=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595305] |
Chr9:134823033 [GRCh38]
Chr9:137714879 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.466C>T (p.Arg156Trp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593539] |
Chr9:134700097 [GRCh38]
Chr9:137591943 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4081C>A (p.Pro1361Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594778] |
Chr9:134815947 [GRCh38]
Chr9:137707793 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1921G>A (p.Glu641Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594338] |
Chr9:134758282 [GRCh38]
Chr9:137650128 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1720-14C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595503] |
Chr9:134753836 [GRCh38]
Chr9:137645682 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3958G>T (p.Ala1320Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593605] |
Chr9:134814848 [GRCh38]
Chr9:137706694 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3259-11C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594928] |
Chr9:134806178 [GRCh38]
Chr9:137698024 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5319_5320dup (p.Met1774fs) |
microsatellite |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594391] |
Chr9:134835150..134835151 [GRCh38]
Chr9:137726996..137726997 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.3528+5G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594473] |
Chr9:134810313 [GRCh38]
Chr9:137702159 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.786+5G>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594504] |
Chr9:134727402 [GRCh38]
Chr9:137619248 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.3443dup (p.Val1149fs) |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593772] |
Chr9:134809256..134809257 [GRCh38]
Chr9:137701102..137701103 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.2162G>A (p.Gly721Glu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595071] |
Chr9:134767028 [GRCh38]
Chr9:137658874 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.225_226del (p.Tyr75_Arg76delinsTer) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV003761056] |
Chr9:134691026..134691027 [GRCh38]
Chr9:137582872..137582873 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.4698+9C>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003761051] |
Chr9:134823478 [GRCh38]
Chr9:137715324 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4446+9G>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594569] |
Chr9:134819062 [GRCh38]
Chr9:137710908 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4753C>G (p.Arg1585Gly) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003761044] |
Chr9:134824654 [GRCh38]
Chr9:137716500 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.463T>C (p.Phe155Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595227] |
Chr9:134700094 [GRCh38]
Chr9:137591940 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5306C>T (p.Ser1769Phe) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595258] |
Chr9:134835140 [GRCh38]
Chr9:137726986 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2478T>C (p.Gly826=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595307] |
Chr9:134782714 [GRCh38]
Chr9:137674560 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2899-20T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594723] |
Chr9:134798388 [GRCh38]
Chr9:137690234 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4370del (p.Pro1457fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594724] |
Chr9:134818877 [GRCh38]
Chr9:137710723 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.4683A>G (p.Gly1561=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595362] |
Chr9:134823454 [GRCh38]
Chr9:137715300 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2016G>A (p.Arg672=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595387] |
Chr9:134763719 [GRCh38]
Chr9:137655565 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5247A>G (p.Ser1749=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593420] |
Chr9:134835081 [GRCh38]
Chr9:137726927 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2929C>G (p.His977Asp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594787] |
Chr9:134798438 [GRCh38]
Chr9:137690284 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1431+1G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594796] |
Chr9:134738516 [GRCh38]
Chr9:137630362 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.4392+14C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595431] |
Chr9:134818915 [GRCh38]
Chr9:137710761 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4015-13T>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595447] |
Chr9:134815563 [GRCh38]
Chr9:137707409 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2700+20T>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593423] |
Chr9:134789228 [GRCh38]
Chr9:137681074 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3752C>T (p.Pro1251Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594848] |
Chr9:134812612 [GRCh38]
Chr9:137704458 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4231-11C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594737] |
Chr9:134818645 [GRCh38]
Chr9:137710491 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2331+12C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594361] |
Chr9:134772846 [GRCh38]
Chr9:137664692 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5084G>A (p.Trp1695Ter) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593550] |
Chr9:134829992 [GRCh38]
Chr9:137721838 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.1432G>A (p.Gly478Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594972] |
Chr9:134738746 [GRCh38]
Chr9:137630592 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1733G>A (p.Ser578Asn) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595554] |
Chr9:134753863 [GRCh38]
Chr9:137645709 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3333A>C (p.Gly1111=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595558] |
Chr9:134806263 [GRCh38]
Chr9:137698109 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4122+4A>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595015] |
Chr9:134815992 [GRCh38]
Chr9:137707838 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.32G>T (p.Ser11Ile) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003595036] |
Chr9:134642219 [GRCh38]
Chr9:137534065 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5417_5420dup (p.Glu1808fs) |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594474] |
Chr9:134842202..134842203 [GRCh38]
Chr9:137734048..137734049 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.608G>A (p.Gly203Asp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594499] |
Chr9:134701287 [GRCh38]
Chr9:137593133 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.924+16G>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758601] |
Chr9:134728823 [GRCh38]
Chr9:137620669 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3114G>A (p.Lys1038=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760540] |
Chr9:134802995 [GRCh38]
Chr9:137694841 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3957T>C (p.Ala1319=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760452] |
Chr9:134814847 [GRCh38]
Chr9:137706693 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2375G>A (p.Arg792Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760559] |
Chr9:134774902 [GRCh38]
Chr9:137666748 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4450C>T (p.His1484Tyr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760506] |
Chr9:134820119 [GRCh38]
Chr9:137711965 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2975C>T (p.Pro992Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760607] |
Chr9:134801976 [GRCh38]
Chr9:137693822 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5031G>A (p.Gly1677=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003819711] |
Chr9:134825868 [GRCh38]
Chr9:137717714 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.58C>T (p.Leu20=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760808] |
Chr9:134642245 [GRCh38]
Chr9:137534091 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1333-11A>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759935] |
Chr9:134732060 [GRCh38]
Chr9:137623906 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4426T>C (p.Ser1476Pro) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759958] |
Chr9:134819033 [GRCh38]
Chr9:137710879 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.50CCCCGCTGCTGC[1] (p.Pro21_Leu24del) |
microsatellite |
Ehlers-Danlos syndrome, classic type, 1 [RCV003865923] |
Chr9:134642237..134642248 [GRCh38]
Chr9:137534083..137534094 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5062G>A (p.Glu1688Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760564] |
Chr9:134825899 [GRCh38]
Chr9:137717745 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3690+8T>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760571] |
Chr9:134811607 [GRCh38]
Chr9:137703453 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2138C>T (p.Pro713Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760683] |
Chr9:134767004 [GRCh38]
Chr9:137658850 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2034+16G>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760698] |
Chr9:134763753 [GRCh38]
Chr9:137655599 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2898+18T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760726] |
Chr9:134796919 [GRCh38]
Chr9:137688765 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3255T>C (p.Pro1085=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759175] |
Chr9:134805211 [GRCh38]
Chr9:137697057 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4259G>A (p.Gly1420Glu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760977] |
Chr9:134818684 [GRCh38]
Chr9:137710530 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5137-12_5137-11del |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV003823151] |
Chr9:134834959..134834960 [GRCh38]
Chr9:137726805..137726806 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2853T>C (p.Asn951=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760789] |
Chr9:134796856 [GRCh38]
Chr9:137688702 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2233-15T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760121] |
Chr9:134768395 [GRCh38]
Chr9:137660241 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2385+19A>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760036] |
Chr9:134774931 [GRCh38]
Chr9:137666777 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2647-12A>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003820569] |
Chr9:134789143 [GRCh38]
Chr9:137680989 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3007-6_3007-5delinsAG |
indel |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760897] |
Chr9:134802882..134802883 [GRCh38]
Chr9:137694728..137694729 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4643C>G (p.Ser1548Trp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759399] |
Chr9:134823032 [GRCh38]
Chr9:137714878 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1774-7del |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759400] |
Chr9:134754263 [GRCh38]
Chr9:137646109 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2602G>A (p.Gly868Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758456] |
Chr9:134786004 [GRCh38]
Chr9:137677850 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1495-6C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758467] |
Chr9:134750536 [GRCh38]
Chr9:137642382 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2844+20G>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759531] |
Chr9:134796438 [GRCh38]
Chr9:137688284 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5318A>G (p.Glu1773Gly) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760325] |
Chr9:134835152 [GRCh38]
Chr9:137726998 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3691-13T>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760350] |
Chr9:134812436 [GRCh38]
Chr9:137704282 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4251C>T (p.Gly1417=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760405] |
Chr9:134818676 [GRCh38]
Chr9:137710522 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1881+3A>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760438] |
Chr9:134756821 [GRCh38]
Chr9:137648667 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.213G>C (p.Pro71=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760466] |
Chr9:134691015 [GRCh38]
Chr9:137582861 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3426C>T (p.Leu1142=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003865968] |
Chr9:134809242 [GRCh38]
Chr9:137701088 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4704C>T (p.Pro1568=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759286] |
Chr9:134824605 [GRCh38]
Chr9:137716451 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4698+6dup |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759218] |
Chr9:134823474..134823475 [GRCh38]
Chr9:137715320..137715321 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1023G>A (p.Val341=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759453] |
Chr9:134730334 [GRCh38]
Chr9:137622180 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1013A>G (p.Tyr338Cys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759459] |
Chr9:134730324 [GRCh38]
Chr9:137622170 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1810G>A (p.Gly604Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759916] |
Chr9:134754309 [GRCh38]
Chr9:137646155 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4761C>T (p.Ile1587=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759595] |
Chr9:134824662 [GRCh38]
Chr9:137716508 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2647-9C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759500] |
Chr9:134789146 [GRCh38]
Chr9:137680992 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4699-14G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759609] |
Chr9:134824586 [GRCh38]
Chr9:137716432 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1475T>C (p.Val492Ala) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760781] |
Chr9:134738789 [GRCh38]
Chr9:137630635 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4346A>G (p.Gln1449Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760836] |
Chr9:134818855 [GRCh38]
Chr9:137710701 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NC_000009.12:g.134765683del |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760847] |
Chr9:134765680 [GRCh38]
Chr9:137657526 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.2492T>G (p.Ile831Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759640] |
Chr9:134784996 [GRCh38]
Chr9:137676842 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3745-15T>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758273] |
Chr9:134812590 [GRCh38]
Chr9:137704436 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4734C>G (p.Ile1578Met) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758365] |
Chr9:134824635 [GRCh38]
Chr9:137716481 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4338+9G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759979] |
Chr9:134818772 [GRCh38]
Chr9:137710618 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2746-19T>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003842810] |
Chr9:134795243 [GRCh38]
Chr9:137687089 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4123-11C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759973] |
Chr9:134817015 [GRCh38]
Chr9:137708861 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2789C>G (p.Pro930Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760131] |
Chr9:134795305 [GRCh38]
Chr9:137687151 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1828-12C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760166] |
Chr9:134756753 [GRCh38]
Chr9:137648599 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2210C>G (p.Ala737Gly) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003842151] |
Chr9:134767332 [GRCh38]
Chr9:137659178 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.925-11T>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760944] |
Chr9:134730225 [GRCh38]
Chr9:137622071 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1662+6T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760957] |
Chr9:134750888 [GRCh38]
Chr9:137642734 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2232+17T>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758340] |
Chr9:134767371 [GRCh38]
Chr9:137659217 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5468C>A (p.Ala1823Glu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760097] |
Chr9:134842254 [GRCh38]
Chr9:137734100 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2844+20G>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760157] |
Chr9:134796438 [GRCh38]
Chr9:137688284 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.277+6T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760293] |
Chr9:134691085 [GRCh38]
Chr9:137582931 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2633G>C (p.Arg878Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760294] |
Chr9:134786035 [GRCh38]
Chr9:137677881 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2119C>A (p.Pro707Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760296] |
Chr9:134766484 [GRCh38]
Chr9:137658330 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4266_4285del (p.Ile1425fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759170] |
Chr9:134818691..134818710 [GRCh38]
Chr9:137710537..137710556 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.655-9C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760019] |
Chr9:134727257 [GRCh38]
Chr9:137619103 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2159C>T (p.Pro720Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760022] |
Chr9:134767025 [GRCh38]
Chr9:137658871 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.626C>T (p.Thr209Ile) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758575] |
Chr9:134701305 [GRCh38]
Chr9:137593151 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.5112C>T (p.Phe1704=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759293] |
Chr9:134830020 [GRCh38]
Chr9:137721866 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4554+20T>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759318] |
Chr9:134820243 [GRCh38]
Chr9:137712089 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1749C>T (p.Gly583=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760150] |
Chr9:134753879 [GRCh38]
Chr9:137645725 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3261A>T (p.Gly1087=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758600] |
Chr9:134806191 [GRCh38]
Chr9:137698037 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.122A>G (p.Asp41Gly) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758625] |
Chr9:134690924 [GRCh38]
Chr9:137582770 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4963T>C (p.Trp1655Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758634] |
Chr9:134825800 [GRCh38]
Chr9:137717646 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4369C>T (p.Pro1457Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760445] |
Chr9:134818878 [GRCh38]
Chr9:137710724 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1141G>T (p.Ala381Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003841208] |
Chr9:134730452 [GRCh38]
Chr9:137622298 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4550A>G (p.Glu1517Gly) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759422] |
Chr9:134820219 [GRCh38]
Chr9:137712065 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.278-13_278-12del |
microsatellite |
Ehlers-Danlos syndrome, classic type, 1 [RCV003864604] |
Chr9:134699894..134699895 [GRCh38]
Chr9:137591740..137591741 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3367-13C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760183] |
Chr9:134809170 [GRCh38]
Chr9:137701016 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1650C>T (p.Leu550=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760191] |
Chr9:134750870 [GRCh38]
Chr9:137642716 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1455C>T (p.Thr485=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760257] |
Chr9:134738769 [GRCh38]
Chr9:137630615 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4177-11G>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759514] |
Chr9:134817767 [GRCh38]
Chr9:137709613 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.927G>A (p.Glu309=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759547] |
Chr9:134730238 [GRCh38]
Chr9:137622084 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4653T>G (p.Thr1551=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758424] |
Chr9:134823424 [GRCh38]
Chr9:137715270 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2563C>T (p.Pro855Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760308] |
Chr9:134785067 [GRCh38]
Chr9:137676913 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2845-19G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760379] |
Chr9:134796829 [GRCh38]
Chr9:137688675 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4176+17G>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759581] |
Chr9:134817096 [GRCh38]
Chr9:137708942 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2898+19G>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758523] |
Chr9:134796920 [GRCh38]
Chr9:137688766 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3366+12C>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760338] |
Chr9:134806308 [GRCh38]
Chr9:137698154 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2592+20C>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760450] |
Chr9:134785116 [GRCh38]
Chr9:137676962 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3967C>T (p.Pro1323Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760396] |
Chr9:134814857 [GRCh38]
Chr9:137706703 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.162A>G (p.Gly54=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758263] |
Chr9:134690964 [GRCh38]
Chr9:137582810 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1773+15T>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758205] |
Chr9:134753918 [GRCh38]
Chr9:137645764 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1631C>T (p.Ser544Phe) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760245] |
Chr9:134750851 [GRCh38]
Chr9:137642697 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3228T>C (p.Asn1076=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760250]|not provided [RCV003886637] |
Chr9:134805184 [GRCh38]
Chr9:137697030 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.4387C>G (p.Pro1463Ala) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003819399] |
Chr9:134818896 [GRCh38]
Chr9:137710742 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3442C>T (p.Pro1148Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003846803] |
Chr9:134809258 [GRCh38]
Chr9:137701104 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.786+18G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758576] |
Chr9:134727415 [GRCh38]
Chr9:137619261 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5371-15C>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758611] |
Chr9:134842142 [GRCh38]
Chr9:137733988 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3582+7A>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760584] |
Chr9:134811399 [GRCh38]
Chr9:137703245 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1725C>T (p.Pro575=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760800] |
Chr9:134753855 [GRCh38]
Chr9:137645701 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2188-6T>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760907] |
Chr9:134767304 [GRCh38]
Chr9:137659150 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3983C>T (p.Pro1328Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760804] |
Chr9:134814873 [GRCh38]
Chr9:137706719 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5428G>T (p.Val1810Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760978] |
Chr9:134842214 [GRCh38]
Chr9:137734060 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2899-6C>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760948] |
Chr9:134798402 [GRCh38]
Chr9:137690248 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.730T>C (p.Cys244Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759166] |
Chr9:134727341 [GRCh38]
Chr9:137619187 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3984T>G (p.Pro1328=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759191] |
Chr9:134814874 [GRCh38]
Chr9:137706720 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2653A>C (p.Ile885Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759244] |
Chr9:134789161 [GRCh38]
Chr9:137681007 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.940C>G (p.Pro314Ala) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759235] |
Chr9:134730251 [GRCh38]
Chr9:137622097 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1782A>T (p.Arg594=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759402] |
Chr9:134754281 [GRCh38]
Chr9:137646127 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1570-10dup |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759499] |
Chr9:134750779..134750780 [GRCh38]
Chr9:137642625..137642626 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1989+5G>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759946] |
Chr9:134761983 [GRCh38]
Chr9:137653829 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.924+18G>C |
single nucleotide variant |
not provided [RCV003736503] |
Chr9:134728825 [GRCh38]
Chr9:137620671 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3560C>T (p.Pro1187Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003866832] |
Chr9:134811370 [GRCh38]
Chr9:137703216 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4716C>T (p.Val1572=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760028] |
Chr9:134824617 [GRCh38]
Chr9:137716463 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4076A>G (p.Asp1359Gly) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760078] |
Chr9:134815942 [GRCh38]
Chr9:137707788 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4273A>T (p.Ile1425Phe) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758207] |
Chr9:134818698 [GRCh38]
Chr9:137710544 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2071G>T (p.Gly691Cys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760083] |
Chr9:134765717 [GRCh38]
Chr9:137657563 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3745-4C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760178] |
Chr9:134812601 [GRCh38]
Chr9:137704447 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2385+13C>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759955] |
Chr9:134774925 [GRCh38]
Chr9:137666771 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2701-11T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759990] |
Chr9:134795071 [GRCh38]
Chr9:137686917 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3869C>G (p.Ala1290Gly) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003867030] |
Chr9:134813999 [GRCh38]
Chr9:137705845 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4392+11T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758225] |
Chr9:134818912 [GRCh38]
Chr9:137710758 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1092C>A (p.Pro364=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003870888] |
Chr9:134730403 [GRCh38]
Chr9:137622249 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.840C>T (p.Tyr280=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760225] |
Chr9:134728723 [GRCh38]
Chr9:137620569 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.5068-14C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003859402] |
Chr9:134829962 [GRCh38]
Chr9:137721808 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.787-8G>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758376] |
Chr9:134728662 [GRCh38]
Chr9:137620508 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2266C>T (p.Pro756Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758404] |
Chr9:134768443 [GRCh38]
Chr9:137660289 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1164+19A>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758454] |
Chr9:134730494 [GRCh38]
Chr9:137622340 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4874T>C (p.Met1625Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760353] |
Chr9:134824775 [GRCh38]
Chr9:137716621 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4840T>G (p.Ser1614Ala) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760398] |
Chr9:134824741 [GRCh38]
Chr9:137716587 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2898+16C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760399] |
Chr9:134796917 [GRCh38]
Chr9:137688763 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2068C>G (p.Pro690Ala) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758473] |
Chr9:134765714 [GRCh38]
Chr9:137657560 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1648C>T (p.Leu550Phe) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760431] |
Chr9:134750868 [GRCh38]
Chr9:137642714 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2701-10C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003865319] |
Chr9:134795072 [GRCh38]
Chr9:137686918 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4689A>T (p.Pro1563=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758639] |
Chr9:134823460 [GRCh38]
Chr9:137715306 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.841G>A (p.Glu281Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760535] |
Chr9:134728724 [GRCh38]
Chr9:137620570 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3367-11G>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760586] |
Chr9:134809172 [GRCh38]
Chr9:137701018 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.491+20C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760611] |
Chr9:134700142 [GRCh38]
Chr9:137591988 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1407C>T (p.Gly469=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760622] |
Chr9:134738491 [GRCh38]
Chr9:137630337 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3383A>G (p.Gln1128Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760678] |
Chr9:134809199 [GRCh38]
Chr9:137701045 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2133+14del |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760799] |
Chr9:134766509 [GRCh38]
Chr9:137658355 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4971T>C (p.Asp1657=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760724] |
Chr9:134825808 [GRCh38]
Chr9:137717654 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3811C>T (p.Pro1271Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759304] |
Chr9:134812671 [GRCh38]
Chr9:137704517 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4231-12G>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759306] |
Chr9:134818644 [GRCh38]
Chr9:137710490 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1162A>G (p.Asn388Asp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759491] |
Chr9:134730473 [GRCh38]
Chr9:137622319 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.924+14G>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759504] |
Chr9:134728821 [GRCh38]
Chr9:137620667 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2746-8C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759590] |
Chr9:134795254 [GRCh38]
Chr9:137687100 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.935_936delinsTC (p.Pro312Leu) |
indel |
Ehlers-Danlos syndrome, classic type, 1 [RCV003854205] |
Chr9:134730246..134730247 [GRCh38]
Chr9:137622092..137622093 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5015A>G (p.Asn1672Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758266] |
Chr9:134825852 [GRCh38]
Chr9:137717698 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3690+10G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760144] |
Chr9:134811609 [GRCh38]
Chr9:137703455 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1204G>T (p.Gly402Trp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760149] |
Chr9:134731535 [GRCh38]
Chr9:137623381 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.257C>G (p.Pro86Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760193] |
Chr9:134691059 [GRCh38]
Chr9:137582905 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.3583-33_3583-15del |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760218] |
Chr9:134811458..134811476 [GRCh38]
Chr9:137703304..137703322 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2898+10G>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760015] |
Chr9:134796911 [GRCh38]
Chr9:137688757 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3487G>A (p.Glu1163Lys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760027] |
Chr9:134810267 [GRCh38]
Chr9:137702113 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.109+16G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759976] |
Chr9:134642312 [GRCh38]
Chr9:137534158 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3360G>T (p.Gly1120=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758280] |
Chr9:134806290 [GRCh38]
Chr9:137698136 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4515C>G (p.Leu1505=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758258] |
Chr9:134820184 [GRCh38]
Chr9:137712030 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5348G>C (p.Arg1783Pro) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758267] |
Chr9:134835182 [GRCh38]
Chr9:137727028 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5311G>T (p.Asp1771Tyr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760105] |
Chr9:134835145 [GRCh38]
Chr9:137726991 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1836T>C (p.Ala612=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760130] |
Chr9:134756773 [GRCh38]
Chr9:137648619 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2647-3C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760137] |
Chr9:134789152 [GRCh38]
Chr9:137680998 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2746-11C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760192] |
Chr9:134795251 [GRCh38]
Chr9:137687097 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1990-12del |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760026] |
Chr9:134763676 [GRCh38]
Chr9:137655522 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.91C>A (p.Pro31Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760063] |
Chr9:134642278 [GRCh38]
Chr9:137534124 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.492-18C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759975] |
Chr9:134701153 [GRCh38]
Chr9:137592999 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3189G>A (p.Gly1063=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003844513] |
Chr9:134805049 [GRCh38]
Chr9:137696895 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2545G>A (p.Gly849Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003846561] |
Chr9:134785049 [GRCh38]
Chr9:137676895 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2419A>G (p.Lys807Glu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003846062] |
Chr9:134780135 [GRCh38]
Chr9:137671981 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1990-5T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758498] |
Chr9:134763688 [GRCh38]
Chr9:137655534 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5495G>C (p.Gly1832Ala) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758526] |
Chr9:134842281 [GRCh38]
Chr9:137734127 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4955-1G>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758309] |
Chr9:134825791 [GRCh38]
Chr9:137717637 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.4686C>A (p.Pro1562=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758327] |
Chr9:134823457 [GRCh38]
Chr9:137715303 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3691-3C>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758360] |
Chr9:134812446 [GRCh38]
Chr9:137704292 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3373A>G (p.Lys1125Glu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760134] |
Chr9:134809189 [GRCh38]
Chr9:137701035 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3045C>T (p.Gly1015=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760215] |
Chr9:134802926 [GRCh38]
Chr9:137694772 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4478C>T (p.Pro1493Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760116] |
Chr9:134820147 [GRCh38]
Chr9:137711993 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1668A>C (p.Ala556=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758580] |
Chr9:134752594 [GRCh38]
Chr9:137644440 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2746-12C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758590] |
Chr9:134795250 [GRCh38]
Chr9:137687096 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3859C>A (p.Pro1287Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760307] |
Chr9:134813989 [GRCh38]
Chr9:137705835 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4039C>G (p.Pro1347Ala) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760286] |
Chr9:134815600 [GRCh38]
Chr9:137707446 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.621T>G (p.Phe207Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760336] |
Chr9:134701300 [GRCh38]
Chr9:137593146 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2406T>G (p.Gly802=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003853512] |
Chr9:134780122 [GRCh38]
Chr9:137671968 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.787-16del |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760346] |
Chr9:134728653 [GRCh38]
Chr9:137620499 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.531C>G (p.Val177=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760291] |
Chr9:134701210 [GRCh38]
Chr9:137593056 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5320A>G (p.Met1774Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760367] |
Chr9:134835154 [GRCh38]
Chr9:137727000 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3747C>T (p.Gly1249=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760304] |
Chr9:134812607 [GRCh38]
Chr9:137704453 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2986C>A (p.Pro996Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760389] |
Chr9:134801987 [GRCh38]
Chr9:137693833 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4214del (p.Gly1405fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758572] |
Chr9:134817813 [GRCh38]
Chr9:137709659 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.3234G>C (p.Gly1078=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758474] |
Chr9:134805190 [GRCh38]
Chr9:137697036 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2746-6G>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758542] |
Chr9:134795256 [GRCh38]
Chr9:137687102 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3852+4A>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760411] |
Chr9:134812716 [GRCh38]
Chr9:137704562 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.543C>G (p.Leu181=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760462] |
Chr9:134701222 [GRCh38]
Chr9:137593068 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5371-6C>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760341] |
Chr9:134842151 [GRCh38]
Chr9:137733997 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1806G>A (p.Pro602=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760479] |
Chr9:134754305 [GRCh38]
Chr9:137646151 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2448T>G (p.Pro816=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760541] |
Chr9:134782684 [GRCh38]
Chr9:137674530 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4048C>A (p.Pro1350Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003861213] |
Chr9:134815609 [GRCh38]
Chr9:137707455 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3906+8A>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003758490] |
Chr9:134814044 [GRCh38]
Chr9:137705890 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.2287-11T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760499] |
Chr9:134772779 [GRCh38]
Chr9:137664625 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4482G>T (p.Pro1494=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760530] |
Chr9:134820151 [GRCh38]
Chr9:137711997 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4644+20G>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760516] |
Chr9:134823053 [GRCh38]
Chr9:137714899 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4831A>T (p.Ile1611Phe) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003847985] |
Chr9:134824732 [GRCh38]
Chr9:137716578 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1953C>A (p.Ser651=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760670] |
Chr9:134761942 [GRCh38]
Chr9:137653788 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2899-7dup |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760606] |
Chr9:134798395..134798396 [GRCh38]
Chr9:137690241..137690242 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4123-17C>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760461] |
Chr9:134817009 [GRCh38]
Chr9:137708855 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.807G>A (p.Glu269=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760665] |
Chr9:134728690 [GRCh38]
Chr9:137620536 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4693_4694insT (p.Pro1565fs) |
insertion |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759287] |
Chr9:134823464..134823465 [GRCh38]
Chr9:137715310..137715311 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.2035-14C>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760711] |
Chr9:134765667 [GRCh38]
Chr9:137657513 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2746-12C>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760746] |
Chr9:134795250 [GRCh38]
Chr9:137687096 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3744+16A>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760686] |
Chr9:134812518 [GRCh38]
Chr9:137704364 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4447-18G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760693] |
Chr9:134820098 [GRCh38]
Chr9:137711944 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2334T>C (p.Gly778=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760676] |
Chr9:134774861 [GRCh38]
Chr9:137666707 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2670T>G (p.Phe890Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760854] |
Chr9:134789178 [GRCh38]
Chr9:137681024 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.1197C>G (p.Asp399Glu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760857] |
Chr9:134731528 [GRCh38]
Chr9:137623374 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.3452C>T (p.Pro1151Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759406] |
Chr9:134809268 [GRCh38]
Chr9:137701114 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4082C>T (p.Pro1361Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760828] |
Chr9:134815948 [GRCh38]
Chr9:137707794 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4599del (p.Gly1534fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760863] |
Chr9:134822141 [GRCh38]
Chr9:137713987 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.3272del (p.Glu1091fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760896] |
Chr9:134806202 [GRCh38]
Chr9:137698048 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.2746-11C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759228] |
Chr9:134795251 [GRCh38]
Chr9:137687097 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4955-20T>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003843633] |
Chr9:134825772 [GRCh38]
Chr9:137717618 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.851A>G (p.Glu284Gly) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759390] |
Chr9:134728734 [GRCh38]
Chr9:137620580 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.1869A>C (p.Gln623His) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759598] |
Chr9:134756806 [GRCh38]
Chr9:137648652 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2700+16C>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759198] |
Chr9:134789224 [GRCh38]
Chr9:137681070 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5068-14C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759208] |
Chr9:134829962 [GRCh38]
Chr9:137721808 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4645-17C>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759353] |
Chr9:134823399 [GRCh38]
Chr9:137715245 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4393-13C>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759565] |
Chr9:134818987 [GRCh38]
Chr9:137710833 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.2800-19C>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759621] |
Chr9:134796355 [GRCh38]
Chr9:137688201 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3576C>T (p.Gly1192=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759945] |
Chr9:134811386 [GRCh38]
Chr9:137703232 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1402G>C (p.Glu468Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759477] |
Chr9:134738486 [GRCh38]
Chr9:137630332 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.109+18C>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760001] |
Chr9:134642314 [GRCh38]
Chr9:137534160 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4045C>A (p.Pro1349Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760040] |
Chr9:134815606 [GRCh38]
Chr9:137707452 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2233-11G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760101] |
Chr9:134768399 [GRCh38]
Chr9:137660245 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2365C>G (p.Pro789Ala) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003759576] |
Chr9:134774892 [GRCh38]
Chr9:137666738 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5371-5C>T |
single nucleotide variant |
COL5A1-related condition [RCV003969305] |
Chr9:134842152 [GRCh38]
Chr9:137733998 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5371-14T>C |
single nucleotide variant |
not specified [RCV003988495] |
Chr9:134842143 [GRCh38]
Chr9:137733989 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2203C>T (p.Gln735Ter) |
single nucleotide variant |
COL5A1-related condition [RCV003982738] |
Chr9:134767325 [GRCh38]
Chr9:137659171 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.5136+120G>A |
single nucleotide variant |
COL5A1-related condition [RCV003919428] |
Chr9:134830164 [GRCh38]
Chr9:137722010 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3015G>A (p.Thr1005=) |
single nucleotide variant |
COL5A1-related condition [RCV003954869] |
Chr9:134802896 [GRCh38]
Chr9:137694742 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2331+3G>A |
single nucleotide variant |
not provided [RCV003887024] |
Chr9:134772837 [GRCh38]
Chr9:137664683 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.83T>G (p.Leu28Arg) |
single nucleotide variant |
COL5A1-related condition [RCV003977088] |
Chr9:134642270 [GRCh38]
Chr9:137534116 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5136+77G>T |
single nucleotide variant |
COL5A1-related condition [RCV003924643] |
Chr9:134830121 [GRCh38]
Chr9:137721967 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2647-22T>C |
single nucleotide variant |
COL5A1-related condition [RCV003893833] |
Chr9:134789133 [GRCh38]
Chr9:137680979 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2187+10C>G |
single nucleotide variant |
COL5A1-related condition [RCV003967080] |
Chr9:134767063 [GRCh38]
Chr9:137658909 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.2232+6T>C |
single nucleotide variant |
COL5A1-related condition [RCV003947015] |
Chr9:134767360 [GRCh38]
Chr9:137659206 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.3154C>T (p.Pro1052Ser) |
single nucleotide variant |
COL5A1-related condition [RCV003969595] |
Chr9:134805014 [GRCh38]
Chr9:137696860 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5299C>T (p.Leu1767=) |
single nucleotide variant |
not provided [RCV003886051] |
Chr9:134835133 [GRCh38]
Chr9:137726979 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.1041C>A (p.Tyr347Ter) |
single nucleotide variant |
COL5A1-related condition [RCV003982557] |
Chr9:134730352 [GRCh38]
Chr9:137622198 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.2845-10C>T |
single nucleotide variant |
COL5A1-related condition [RCV003968951] |
Chr9:134796838 [GRCh38]
Chr9:137688684 [GRCh37]
Chr9:9q34.3 |
likely benign |
