| 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.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.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.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.4699-140C>T |
single nucleotide variant |
not provided [RCV001690971] |
Chr9:134824460 [GRCh38]
Chr9:137716306 [GRCh37]
Chr9:9q34.3 |
benign |
| 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.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.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.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.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.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.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.5136+55A>G |
single nucleotide variant |
COL5A1-related disorder [RCV003910899]|not provided [RCV001574398] |
Chr9:134830099 [GRCh38]
Chr9:137721945 [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.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.4955-139C>G |
single nucleotide variant |
not provided [RCV001669103] |
Chr9:134825653 [GRCh38]
Chr9:137717499 [GRCh37]
Chr9:9q34.3 |
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.4609-279dup |
duplication |
not provided [RCV001710050] |
Chr9:134822718..134822719 [GRCh38]
Chr9:137714564..137714565 [GRCh37]
Chr9:9q34.3 |
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.5031dup (p.Ser1678fs) |
duplication |
not provided [RCV001547410] |
Chr9:134825862..134825863 [GRCh38]
Chr9:137717708..137717709 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| 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.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.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.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.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.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.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.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.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.5068-177C>A |
single nucleotide variant |
not provided [RCV001660881] |
Chr9:134829799 [GRCh38]
Chr9:137721645 [GRCh37]
Chr9:9q34.3 |
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.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.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.4609-134A>G |
single nucleotide variant |
not provided [RCV001680020] |
Chr9:134822864 [GRCh38]
Chr9:137714710 [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.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.5371-66T>G |
single nucleotide variant |
not provided [RCV001671672] |
Chr9:134842091 [GRCh38]
Chr9:137733937 [GRCh37]
Chr9:9q34.3 |
benign |
| 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.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.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.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.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]|not specified [RCV005240316] |
Chr9:134820205 [GRCh38]
Chr9:137712051 [GRCh37]
Chr9:9q34.3 |
benign|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.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.*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]|not provided [RCV004718606] |
Chr9:134843036 [GRCh38]
Chr9:137734882 [GRCh37]
Chr9:9q34.3 |
benign |
| 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 |
| 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.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_000093.5(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.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.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.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.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.4609-278G>C |
single nucleotide variant |
not provided [RCV000843559] |
Chr9:134822720 [GRCh38]
Chr9:137714566 [GRCh37]
Chr9:9q34.3 |
benign |
| 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 |
| 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.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 |
| 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 |
| 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 |
| 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 |
| 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.4473C>T (p.Ile1491=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV000634693]|Familial thoracic aortic aneurysm and aortic dissection [RCV004025005]|Fibromuscular dysplasia, multifocal [RCV002270859]|not provided [RCV001704792]|not specified [RCV003330829] |
Chr9:134820142 [GRCh38]
Chr9:137711988 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| 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 |
| 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 |
likely benign|uncertain significance |
| 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 |
| 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.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.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.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.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.5137-7C>T |
single nucleotide variant |
COL5A1-related disorder [RCV003965733]|Ehlers-Danlos syndrome, classic type, 1 [RCV002235179] |
Chr9:134834964 [GRCh38]
Chr9:137726810 [GRCh37]
Chr9:9q34.3 |
likely benign |
| 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 |
| 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.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.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.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.4753C>T (p.Arg1585Trp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000228177]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229060]|Familial thoracic aortic aneurysm and aortic dissection [RCV004822001]|not provided [RCV000196862] |
Chr9:134824654 [GRCh38]
Chr9:137716500 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| 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.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 |
| 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.4707G>A (p.Pro1569=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240989]|Familial thoracic aortic aneurysm and aortic dissection [RCV004033778] |
Chr9:134824608 [GRCh38]
Chr9:137716454 [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.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]|not specified [RCV004700581] |
Chr9:134824835 [GRCh38]
Chr9:137716681 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| 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.5136+280G>A |
single nucleotide variant |
not provided [RCV000831525] |
Chr9:134830324 [GRCh38]
Chr9:137722170 [GRCh37]
Chr9:9q34.3 |
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.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.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.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]|not specified [RCV004767136] |
Chr9:134823032 [GRCh38]
Chr9:137714878 [GRCh37]
Chr9:9q34.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| 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.4836C>T (p.Phe1612=) |
single nucleotide variant |
COL5A1-related disorder [RCV004748873]|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.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 |
| 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 |
| 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.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.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.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.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.4554+3G>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005090285]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310922] |
Chr9:134820226 [GRCh38]
Chr9:137712072 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5329G>A (p.Asp1777Asn) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005089993]|not provided [RCV000196237] |
Chr9:134835163 [GRCh38]
Chr9:137727009 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| 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.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.*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.4609-280del |
deletion |
not provided [RCV000832557] |
Chr9:134822718 [GRCh38]
Chr9:137714564 [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.5068-279C>A |
single nucleotide variant |
not provided [RCV000843567] |
Chr9:134829697 [GRCh38]
Chr9:137721543 [GRCh37]
Chr9:9q34.3 |
benign |
| 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.4955-258C>T |
single nucleotide variant |
not provided [RCV000843573] |
Chr9:134825534 [GRCh38]
Chr9:137717380 [GRCh37]
Chr9:9q34.3 |
benign |
| 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 |
| 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 |
| 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 |
| 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 |
| NM_000093.5(COL5A1):c.4659G>A (p.Pro1553=) |
single nucleotide variant |
COL5A1-related disorder [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 |
| 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 |
| 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 |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 |
copy number gain |
See cases [RCV000053746] |
Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3 |
pathogenic |
| NM_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.5271G>A (p.Thr1757=) |
single nucleotide variant |
COL5A1-related disorder [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.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.4586C>A (p.Pro1529His) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230243]|Ehlers-Danlos syndrome, classic type, 1 [RCV005044636]|not provided [RCV000432639] |
Chr9:134822128 [GRCh38]
Chr9:137713974 [GRCh37]
Chr9:9q34.3 |
benign|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 |
| 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.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.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.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.4698+135C>T |
single nucleotide variant |
not provided [RCV000833589] |
Chr9:134823604 [GRCh38]
Chr9:137715450 [GRCh37]
Chr9:9q34.3 |
benign |
| 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.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]|not specified [RCV005238984] |
Chr9:134842255 [GRCh38]
Chr9:137734101 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| NM_000093.5(COL5A1):c.*1642G>A |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000304055]|Ehlers-Danlos syndrome, classic type [RCV001166075]|not provided [RCV004707210] |
Chr9:134843945 [GRCh38]
Chr9:137735791 [GRCh37]
Chr9:9q34.3 |
benign|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 |
| 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_000093.5(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.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.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]|not specified [RCV004525909] |
Chr9:134835114 [GRCh38]
Chr9:137726960 [GRCh37]
Chr9:9q34.3 |
benign|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.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.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.4645-112A>T |
single nucleotide variant |
not provided [RCV000830155] |
Chr9:134823304 [GRCh38]
Chr9:137715150 [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 |
| 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.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.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.4555-15T>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005090788]|not specified [RCV000445312] |
Chr9:134822082 [GRCh38]
Chr9:137713928 [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.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]|not specified [RCV004700582] |
Chr9:134830005 [GRCh38]
Chr9:137721851 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| 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.5349C>T (p.Arg1783=) |
single nucleotide variant |
COL5A1-related disorder [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.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.4911C>T (p.Arg1637=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234441]|Familial thoracic aortic aneurysm and aortic dissection [RCV004822139] |
Chr9:134824812 [GRCh38]
Chr9:137716658 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|uncertain significance |
| 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.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.4652C>T (p.Thr1551Ile) |
single nucleotide variant |
COL5A1-related disorder [RCV004748648]|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.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.*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.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.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.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.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.5395G>A (p.Val1799Ile) |
single nucleotide variant |
not provided [RCV000200680] |
Chr9:134842181 [GRCh38]
Chr9:137734027 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|uncertain significance |
| 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 |
| 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 provided [RCV004700580] |
Chr9:134835100 [GRCh38]
Chr9:137726946 [GRCh37]
Chr9:9q34.3 |
benign|likely 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.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.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.4863G>T (p.Glu1621Asp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230921]|Familial thoracic aortic aneurysm and aortic dissection [RCV004023134]|not provided [RCV000482255] |
Chr9:134824764 [GRCh38]
Chr9:137716610 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| 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.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.4955-119C>T |
single nucleotide variant |
not provided [RCV000834977] |
Chr9:134825673 [GRCh38]
Chr9:137717519 [GRCh37]
Chr9:9q34.3 |
benign |
| 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.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.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.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.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.4515C>T (p.Leu1505=) |
single nucleotide variant |
Connective tissue disorder [RCV000659462]|Ehlers-Danlos syndrome, classic type, 1 [RCV005091896] |
Chr9:134820184 [GRCh38]
Chr9:137712030 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| 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.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.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.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.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.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.*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.5137-142C>T |
single nucleotide variant |
not provided [RCV000834893] |
Chr9:134834829 [GRCh38]
Chr9:137726675 [GRCh37]
Chr9:9q34.3 |
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.5068-86A>G |
single nucleotide variant |
not provided [RCV000834981] |
Chr9:134829890 [GRCh38]
Chr9:137721736 [GRCh37]
Chr9:9q34.3 |
likely benign |
| 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.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.5504G>C (p.Cys1835Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002230377]|not provided [RCV004767268] |
Chr9:134842290 [GRCh38]
Chr9:137734136 [GRCh37]
Chr9:9q34.3 |
likely pathogenic|uncertain significance |
| NM_000093.5(COL5A1):c.4837G>A (p.Gly1613Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002239270]|not provided [RCV004777928] |
Chr9:134824738 [GRCh38]
Chr9:137716584 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| 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 |
| 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.4765G>A (p.Ala1589Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229061]|Ehlers-Danlos syndrome, classic type, 1 [RCV005042417]|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|no classifications from unflagged records |
| 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.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.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.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.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.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.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.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.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.5371-289T>C |
single nucleotide variant |
not provided [RCV000827665] |
Chr9:134841868 [GRCh38]
Chr9:137733714 [GRCh37]
Chr9:9q34.3 |
benign |
| 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 |
| 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 |
| NM_000093.5(COL5A1):c.4609-278del |
deletion |
not provided [RCV000828688] |
Chr9:134822720 [GRCh38]
Chr9:137714566 [GRCh37]
Chr9:9q34.3 |
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 |
| 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.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.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 |
| 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 |
| 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.4814C>T (p.Ala1605Val) |
single nucleotide variant |
COL5A1-related disorder [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.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.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.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.4464C>T (p.Ile1488=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002236199]|Familial thoracic aortic aneurysm and aortic dissection [RCV004822262]|not provided [RCV005231939] |
Chr9:134820133 [GRCh38]
Chr9:137711979 [GRCh37]
Chr9:9q34.3 |
likely 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.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.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.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.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.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.5137-12C>T |
single nucleotide variant |
COL5A1-related disorder [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.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.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.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.*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.4906G>A (p.Ala1636Thr) |
single nucleotide variant |
COL5A1-related disorder [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.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.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 provided [RCV005230186]|not specified [RCV000252036] |
Chr9:134825805 [GRCh38]
Chr9:137717651 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| 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 |
| 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.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.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 |
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.5460C>T (p.Phe1820=) |
single nucleotide variant |
COL5A1-related disorder [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 |
| 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.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.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.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.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.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.4698+146G>A |
single nucleotide variant |
not provided [RCV000835110] |
Chr9:134823615 [GRCh38]
Chr9:137715461 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.*1922G>A |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000272139]|Ehlers-Danlos syndrome, classic type [RCV001166077]|not provided [RCV004705487] |
Chr9:134844225 [GRCh38]
Chr9:137736071 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| 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.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.*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.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.4609-77G>C |
single nucleotide variant |
not provided [RCV000832875] |
Chr9:134822921 [GRCh38]
Chr9:137714767 [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.4955-259C>A |
single nucleotide variant |
not provided [RCV000843571] |
Chr9:134825533 [GRCh38]
Chr9:137717379 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.*8C>T |
single nucleotide variant |
COL5A1-related disorder [RCV003912769]|not provided [RCV001698380] |
Chr9:134842311 [GRCh38]
Chr9:137734157 [GRCh37]
Chr9:9q34.3 |
likely benign |
| 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.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.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.4697dup (p.Glu1571fs) |
duplication |
Ehlers-Danlos syndrome [RCV002279271]|Ehlers-Danlos syndrome, classic type, 1 [RCV002527112]|Familial thoracic aortic aneurysm and aortic dissection [RCV004822077]|not provided [RCV000494192] |
Chr9:134823462..134823463 [GRCh38]
Chr9:137715308..137715309 [GRCh37]
Chr9:9q34.3 |
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 |
| 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.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.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+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.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.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 |
| 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.5136+421C>T |
single nucleotide variant |
not provided [RCV000827920] |
Chr9:134830465 [GRCh38]
Chr9:137722311 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4555-294G>A |
single nucleotide variant |
not provided [RCV000827973] |
Chr9:134821803 [GRCh38]
Chr9:137713649 [GRCh37]
Chr9:9q34.3 |
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.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.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.5028G>T (p.Gly1676=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002229079]|Familial thoracic aortic aneurysm and aortic dissection [RCV004822002]|not provided [RCV000197275] |
Chr9:134825865 [GRCh38]
Chr9:137717711 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| 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.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.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.5348G>A (p.Arg1783His) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000576704]|Ehlers-Danlos syndrome, classic type, 1 [RCV002232468]|Familial thoracic aortic aneurysm and aortic dissection [RCV004024586] |
Chr9:134835182 [GRCh38]
Chr9:137727028 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| 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.*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.4609-269G>A |
single nucleotide variant |
not provided [RCV000843562] |
Chr9:134822729 [GRCh38]
Chr9:137714575 [GRCh37]
Chr9:9q34.3 |
benign |
| 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 |
| 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 |
| 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.*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.*660G>A |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000341630]|not provided [RCV004705485] |
Chr9:134842963 [GRCh38]
Chr9:137734809 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5335A>G (p.Asn1779Asp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005208823]|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.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.*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.5067+119C>T |
single nucleotide variant |
not provided [RCV000831523] |
Chr9:134826023 [GRCh38]
Chr9:137717869 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.5311G>A (p.Asp1771Asn) |
single nucleotide variant |
COL5A1-related disorder [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.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.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.5267C>G (p.Ala1756Gly) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002241351]|Familial thoracic aortic aneurysm and aortic dissection [RCV004822333] |
Chr9:134835101 [GRCh38]
Chr9:137726947 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| 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.4954+4A>G |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233411]|not specified [RCV004782520] |
Chr9:134824859 [GRCh38]
Chr9:137716705 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4698G>A (p.Pro1566=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002514667]|Familial thoracic aortic aneurysm and aortic dissection [RCV004019715]|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.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.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.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.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.4447-19T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002063974]|not provided [RCV004707371]|not specified [RCV000615012] |
Chr9:134820097 [GRCh38]
Chr9:137711943 [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.*2501T>C |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000279249]|not provided [RCV004718610] |
Chr9:134844804 [GRCh38]
Chr9:137736650 [GRCh37]
Chr9:9q34.3 |
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.*1125A>T |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002278633]|Ehlers-Danlos syndrome type 7A [RCV000292278]|not provided [RCV004718608] |
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.*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.*629A>G |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000303122]|not provided [RCV004707207] |
Chr9:134842932 [GRCh38]
Chr9:137734778 [GRCh37]
Chr9:9q34.3 |
likely benign |
| 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.*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.*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.*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.*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.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.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.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.*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.*1734G>A |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000406718] |
Chr9:134844037 [GRCh38]
Chr9:137735883 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.*1637C>A |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000406721]|not provided [RCV004707209] |
Chr9:134843940 [GRCh38]
Chr9:137735786 [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.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.5295C>T (p.Arg1765=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594060]|Familial thoracic aortic aneurysm and aortic dissection [RCV004609570] |
Chr9:134835129 [GRCh38]
Chr9:137726975 [GRCh37]
Chr9:9q34.3 |
likely benign |
| 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 |
| 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.*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.*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.*894T>C |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000371804]|not provided [RCV004718607] |
Chr9:134843197 [GRCh38]
Chr9:137735043 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.*2395G>T |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000378221]|not provided [RCV004718609] |
Chr9:134844698 [GRCh38]
Chr9:137736544 [GRCh37]
Chr9:9q34.3 |
benign |
| 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.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.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.*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.4554+258C>G |
single nucleotide variant |
not provided [RCV000843549] |
Chr9:134820481 [GRCh38]
Chr9:137712327 [GRCh37]
Chr9:9q34.3 |
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.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.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.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.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.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.5250G>A (p.Val1750=) |
single nucleotide variant |
COL5A1-related disorder [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.5182dup (p.Met1728fs) |
duplication |
not provided [RCV000507055] |
Chr9:134835015..134835016 [GRCh38]
Chr9:137726862 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| 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.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.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.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.4554+321T>C |
single nucleotide variant |
not provided [RCV000843555] |
Chr9:134820544 [GRCh38]
Chr9:137712390 [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.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.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.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.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.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.4656C>T (p.Gly1552=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004608141] |
Chr9:134823427 [GRCh38]
Chr9:137715273 [GRCh37]
Chr9:9q34.3 |
likely benign |
| 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.*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.5136_5136+8delinsTGAATTCCCAC |
indel |
Ehlers-Danlos syndrome, classic type, 1 [RCV002564114] |
Chr9:134830044..134830052 [GRCh38]
Chr9:137721890..137721898 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| 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.5437G>A (p.Val1813Met) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002231310]|Familial thoracic aortic aneurysm and aortic dissection [RCV004822096]|not provided [RCV002281106]|not specified [RCV003323594] |
Chr9:134842223 [GRCh38]
Chr9:137734069 [GRCh37]
Chr9:9q34.3 |
likely benign|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.*190G>A |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000327022]|not provided [RCV004705484] |
Chr9:134842493 [GRCh38]
Chr9:137734339 [GRCh37]
Chr9:9q34.3 |
likely benign |
| 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.*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.*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.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.5421G>A (p.Val1807=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003594061]|Familial thoracic aortic aneurysm and aortic dissection [RCV004822269] |
Chr9:134842207 [GRCh38]
Chr9:137734053 [GRCh37]
Chr9:9q34.3 |
likely benign |
| 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.4465G>A (p.Gly1489Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240316]|not provided [RCV004702604] |
Chr9:134820134 [GRCh38]
Chr9:137711980 [GRCh37]
Chr9:9q34.3 |
pathogenic|likely pathogenic |
| 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.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.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.4909C>T (p.Arg1637Cys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type [RCV000208258]|Ehlers-Danlos syndrome, classic type, 1 [RCV002229534]|not provided [RCV001589097]|not specified [RCV004767152] |
Chr9:134824810 [GRCh38]
Chr9:137716656 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| 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.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.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.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.*15G>A |
single nucleotide variant |
not specified [RCV000421603] |
Chr9:134842318 [GRCh38]
Chr9:137734164 [GRCh37]
Chr9:9q34.3 |
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.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.5068-116del |
deletion |
not provided [RCV000834613] |
Chr9:134829854 [GRCh38]
Chr9:137721700 [GRCh37]
Chr9:9q34.3 |
benign |
| 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.4638del (p.Ser1547fs) |
deletion |
not provided [RCV001091219] |
Chr9:134823027 [GRCh38]
Chr9:137714873 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.*1806C>T |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000260192]|not provided [RCV004705486] |
Chr9:134844109 [GRCh38]
Chr9:137735955 [GRCh37]
Chr9:9q34.3 |
likely benign |
| 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.*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.*1443G>A |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000288611]|not provided [RCV004707208] |
Chr9:134843746 [GRCh38]
Chr9:137735592 [GRCh37]
Chr9:9q34.3 |
likely benign |
| 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.*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.*14C>T |
single nucleotide variant |
Ehlers-Danlos syndrome type 7A [RCV000355175]|Ehlers-Danlos syndrome, classic type, 1 [RCV002269973]|Fibromuscular dysplasia, multifocal [RCV002269974]|not provided [RCV004706653]|not specified [RCV000124475] |
Chr9:134842317 [GRCh38]
Chr9:137734163 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| 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.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.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.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.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.4650A>T (p.Pro1550=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002233747]|Familial thoracic aortic aneurysm and aortic dissection [RCV004027121]|not provided [RCV000755966] |
Chr9:134823421 [GRCh38]
Chr9:137715267 [GRCh37]
Chr9:9q34.3 |
likely benign |
| 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.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.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.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.5137-7C>G |
single nucleotide variant |
not provided [RCV000841719] |
Chr9:134834964 [GRCh38]
Chr9:137726810 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4962C>T (p.Tyr1654=) |
single nucleotide variant |
COL5A1-related disorder [RCV003923191]|Familial thoracic aortic aneurysm and aortic dissection [RCV004029364]|not provided [RCV000913458] |
Chr9:134825799 [GRCh38]
Chr9:137717645 [GRCh37]
Chr9:9q34.3 |
likely benign |
| 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.4607C>T (p.Pro1536Leu) |
single nucleotide variant |
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|conflicting interpretations of pathogenicity|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.5026G>C (p.Gly1676Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593932]|Familial thoracic aortic aneurysm and aortic dissection [RCV004609324]|not provided [RCV000726897] |
Chr9:134825863 [GRCh38]
Chr9:137717709 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| 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.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.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.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.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_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 |
| 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.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.*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.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.*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.*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.*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.*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.*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.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 |
| 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.*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.*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.*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.*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.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.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.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.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.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.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.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.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.4990A>G (p.Arg1664Gly) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002234744]|not provided [RCV005231349] |
Chr9:134825827 [GRCh38]
Chr9:137717673 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4880G>A (p.Arg1627Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235001]|Familial thoracic aortic aneurysm and aortic dissection [RCV004822214] |
Chr9:134824781 [GRCh38]
Chr9:137716627 [GRCh37]
Chr9:9q34.3 |
benign|uncertain significance |
| 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.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.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.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.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.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.4676A>C (p.His1559Pro) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002235127]|not provided [RCV001585756]|not specified [RCV005240618] |
Chr9:134823447 [GRCh38]
Chr9:137715293 [GRCh37]
Chr9:9q34.3 |
likely benign|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.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.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.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.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.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.5294G>A (p.Arg1765His) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002242192]|not provided [RCV003442855]|not specified [RCV004587129] |
Chr9:134835128 [GRCh38]
Chr9:137726974 [GRCh37]
Chr9:9q34.3 |
benign|likely benign|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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.4749G>A (p.Thr1583=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002240291]|Familial thoracic aortic aneurysm and aortic dissection [RCV004038632] |
Chr9:134824650 [GRCh38]
Chr9:137716496 [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]|not provided [RCV005243565] |
Chr9:134825862 [GRCh38]
Chr9:137717708 [GRCh37]
Chr9:9q34.3 |
likely benign |
| 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.5031del (p.Ser1678fs) |
deletion |
Ehlers-Danlos syndrome [RCV002278006] |
Chr9:134825863 [GRCh38]
Chr9:137717709 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| 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.4697C>A (p.Pro1566Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005057606]|not provided [RCV001768326] |
Chr9:134823468 [GRCh38]
Chr9:137715314 [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.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.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.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.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.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.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.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.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.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.*1086ATCT[1] |
microsatellite |
Ehlers-Danlos syndrome type 7A [RCV000386820] |
Chr9:134843387..134843390 [GRCh38]
Chr9:137735233..137735236 [GRCh37]
Chr9:9q34.3 |
benign |
| 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 |
| 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.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.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.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.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.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.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.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.4466G>A (p.Gly1489Glu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV000018729] |
Chr9:134820135 [GRCh38]
Chr9:137711981 [GRCh37]
Chr9:9q34.3 |
pathogenic|uncertain significance |
| 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.4554+263G>A |
single nucleotide variant |
not provided [RCV000843550] |
Chr9:134820486 [GRCh38]
Chr9:137712332 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4614G>A (p.Pro1538=) |
single nucleotide variant |
COL5A1-related disorder [RCV003900144]|Ehlers-Danlos syndrome, classic type, 1 [RCV002231692] |
Chr9:134823003 [GRCh38]
Chr9:137714849 [GRCh37]
Chr9:9q34.3 |
likely benign |
| 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.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.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.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.4474G>T (p.Gly1492Cys) |
single nucleotide variant |
not provided [RCV001310683] |
Chr9:134820143 [GRCh38]
Chr9:137711989 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.5502_5503delinsCG (p.Cys1835Gly) |
indel |
Ehlers-Danlos syndrome, classic type, 1 [RCV004797682] |
Chr9:134842288..134842289 [GRCh38]
Chr9:137734134..137734135 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| 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.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.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.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.5136+373G>A |
single nucleotide variant |
not provided [RCV001609983] |
Chr9:134830417 [GRCh38]
Chr9:137722263 [GRCh37]
Chr9:9q34.3 |
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.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.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.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.4750C>T (p.Arg1584Trp) |
single nucleotide variant |
COL5A1-related disorder [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.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.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.5136+126del |
deletion |
not provided [RCV004801618] |
Chr9:134830166 [GRCh38]
Chr9:137722012 [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.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.4645-10_4645-7del |
microsatellite |
Ehlers-Danlos syndrome, classic type, 1 [RCV001912926] |
Chr9:134823401..134823404 [GRCh38]
Chr9:137715247..137715250 [GRCh37]
Chr9:9q34.3 |
likely benign|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.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.5012G>T (p.Cys1671Phe) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001948759]|Familial thoracic aortic aneurysm and aortic dissection [RCV004612023] |
Chr9:134825849 [GRCh38]
Chr9:137717695 [GRCh37]
Chr9:9q34.3 |
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.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.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 |
| 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.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.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.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.5452A>G (p.Asn1818Asp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV001883473]|not provided [RCV004571497] |
Chr9:134842238 [GRCh38]
Chr9:137734084 [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.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.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.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.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.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.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.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.4604dup (p.Pro1536fs) |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV001906883] |
Chr9:134822145..134822146 [GRCh38]
Chr9:137713991..137713992 [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.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.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.4884C>G (p.Pro1628=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002109254]|Familial thoracic aortic aneurysm and aortic dissection [RCV004612149] |
Chr9:134824785 [GRCh38]
Chr9:137716631 [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.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.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.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.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.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.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.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.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.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.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.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]|not provided [RCV005232878] |
Chr9:134823463 [GRCh38]
Chr9:137715309 [GRCh37]
Chr9:9q34.3 |
benign|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.4777C>T (p.Leu1593=) |
single nucleotide variant |
Ehlers-Danlos syndrome [RCV002277012]|Ehlers-Danlos syndrome, classic type, 1 [RCV002083132]|Familial thoracic aortic aneurysm and aortic dissection [RCV004045694] |
Chr9:134824678 [GRCh38]
Chr9:137716524 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| 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.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.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.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.4974T>C (p.Pro1658=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002144643]|Familial thoracic aortic aneurysm and aortic dissection [RCV003161534]|not specified [RCV005058048] |
Chr9:134825811 [GRCh38]
Chr9:137717657 [GRCh37]
Chr9:9q34.3 |
benign|likely benign |
| 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_000093.5(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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.4554+4C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV004577016]|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.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.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.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.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.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.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.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.4555-17T>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV002640285]|not specified [RCV004801294] |
Chr9:134822080 [GRCh38]
Chr9:137713926 [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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.4684C>A (p.Pro1562Thr) |
single nucleotide variant |
not provided [RCV004780817] |
Chr9:134823455 [GRCh38]
Chr9:137715301 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5375A>G (p.Lys1792Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005102432]|not provided [RCV003227422] |
Chr9:134842161 [GRCh38]
Chr9:137734007 [GRCh37]
Chr9:9q34.3 |
likely benign|uncertain significance |
| NM_000093.5(COL5A1):c.4503C>T (p.Gly1501=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003777351]|Familial thoracic aortic aneurysm and aortic dissection [RCV004334076]|not specified [RCV003324239] |
Chr9:134820172 [GRCh38]
Chr9:137712018 [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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.5247A>G (p.Ser1749=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003593420]|Familial thoracic aortic aneurysm and aortic dissection [RCV004369284] |
Chr9:134835081 [GRCh38]
Chr9:137726927 [GRCh37]
Chr9:9q34.3 |
benign|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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.4716C>T (p.Val1572=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760028]|Familial thoracic aortic aneurysm and aortic dissection [RCV004823172] |
Chr9:134824617 [GRCh38]
Chr9:137716463 [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.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.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.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.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.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.4482G>T (p.Pro1494=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV003760530]|Familial thoracic aortic aneurysm and aortic dissection [RCV004614516] |
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.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.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.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.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.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.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.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.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.5136+77G>T |
single nucleotide variant |
COL5A1-related disorder [RCV003924643] |
Chr9:134830121 [GRCh38]
Chr9:137721967 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.*9G>A |
single nucleotide variant |
COL5A1-related disorder [RCV004748100] |
Chr9:134842312 [GRCh38]
Chr9:137734158 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5136+114G>C |
single nucleotide variant |
not provided [RCV004794871] |
Chr9:134830158 [GRCh38]
Chr9:137722004 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5168T>C (p.Val1723Ala) |
single nucleotide variant |
COL5A1-related disorder [RCV004749403] |
Chr9:134835002 [GRCh38]
Chr9:137726848 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.*6G>A |
single nucleotide variant |
not specified [RCV004699907] |
Chr9:134842309 [GRCh38]
Chr9:137734155 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181) |
copy number loss |
Kleefstra syndrome 1 [RCV004720480] |
Chr9:136926151..138059181 [GRCh38]
Chr9:9q34.13-34.3 |
pathogenic |
| GRCh38/hg38 9q34.2-34.3(chr9:134288333-138155727) |
copy number loss |
Kleefstra syndrome 1 [RCV004720515] |
Chr9:134288333..138155727 [GRCh38]
Chr9:9q34.2-34.3 |
pathogenic |
| 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.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.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.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.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.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.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.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.5083T>C (p.Trp1695Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004608142] |
Chr9:134829991 [GRCh38]
Chr9:137721837 [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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.*1786C>G |
single nucleotide variant |
not provided [RCV003145719] |
Chr9:134844089 [GRCh38]
Chr9:137735935 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5434A>G (p.Ile1812Val) |
single nucleotide variant |
not provided [RCV004779637] |
Chr9:134842220 [GRCh38]
Chr9:137734066 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| 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.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.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.4820del (p.Gly1607fs) |
deletion |
not provided [RCV003480484] |
Chr9:134824720 [GRCh38]
Chr9:137716566 [GRCh37]
Chr9:9q34.3 |
likely pathogenic |
| NM_000093.5(COL5A1):c.4751G>C (p.Arg1584Pro) |
single nucleotide variant |
COL5A1-related disorder [RCV003397547]|Ehlers-Danlos syndrome, classic type, 1 [RCV003759838] |
Chr9:134824652 [GRCh38]
Chr9:137716498 [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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.4523C>G (p.Pro1508Arg) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004520467] |
Chr9:134820192 [GRCh38]
Chr9:137712038 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4713G>C (p.Glu1571Asp) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004520469] |
Chr9:134824614 [GRCh38]
Chr9:137716460 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5171G>C (p.Gly1724Ala) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004520470] |
Chr9:134835005 [GRCh38]
Chr9:137726851 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5136+120G>A |
single nucleotide variant |
COL5A1-related disorder [RCV003919428] |
Chr9:134830164 [GRCh38]
Chr9:137722010 [GRCh37]
Chr9:9q34.3 |
likely benign |
| 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.5371-5C>T |
single nucleotide variant |
COL5A1-related disorder [RCV003969305] |
Chr9:134842152 [GRCh38]
Chr9:137733998 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188) |
copy number loss |
Kleefstra syndrome 1 [RCV004720477] |
Chr9:137590213..138052188 [GRCh38]
Chr9:9q34.13-34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.4830_4831dup (p.Ile1611fs) |
microsatellite |
Ehlers-Danlos syndrome [RCV004587693] |
Chr9:134824727..134824728 [GRCh38]
Chr9:137716573..137716574 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525) |
copy number loss |
Kleefstra syndrome 1 [RCV004720478] |
Chr9:137590213..137817525 [GRCh38]
Chr9:9q34.13-34.3 |
pathogenic |
| GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181) |
copy number loss |
Kleefstra syndrome 1 [RCV004720481] |
Chr9:137552409..138059181 [GRCh38]
Chr9:9q34.13-34.3 |
pathogenic |
| GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113) |
copy number loss |
Kleefstra syndrome 1 [RCV004720482] |
Chr9:137552409..138052113 [GRCh38]
Chr9:9q34.13-34.3 |
pathogenic |
| GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159) |
copy number loss |
Kleefstra syndrome 1 [RCV004720487] |
Chr9:137552409..137879159 [GRCh38]
Chr9:9q34.13-34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.5136+102C>G |
single nucleotide variant |
not specified [RCV004766487] |
Chr9:134830146 [GRCh38]
Chr9:137721992 [GRCh37]
Chr9:9q34.3 |
likely benign |
| GRCh38/hg38 9q34.3(chr9:134642187-138121999) |
copy number loss |
Kleefstra syndrome 1 [RCV004720503] |
Chr9:134642187..138121999 [GRCh38]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.4711G>C (p.Glu1571Gln) |
single nucleotide variant |
COL5A1-related disorder [RCV004730517]|Ehlers-Danlos syndrome, classic type, 1 [RCV005059798] |
Chr9:134824612 [GRCh38]
Chr9:137716458 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4939C>G (p.Pro1647Ala) |
single nucleotide variant |
COL5A1-related disorder [RCV004731456] |
Chr9:134824840 [GRCh38]
Chr9:137716686 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4910G>T (p.Arg1637Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005104986]|not provided [RCV004775044] |
Chr9:134824811 [GRCh38]
Chr9:137716657 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529) |
copy number loss |
Kleefstra syndrome 1 [RCV004720485] |
Chr9:137552082..137728529 [GRCh38]
Chr9:9q34.13-34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.4944C>A (p.Asp1648Glu) |
single nucleotide variant |
not provided [RCV004769392] |
Chr9:134824845 [GRCh38]
Chr9:137716691 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5052C>T (p.Asp1684=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004822591] |
Chr9:134825889 [GRCh38]
Chr9:137717735 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4530C>A (p.Gly1510=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005110145]|Familial thoracic aortic aneurysm and aortic dissection [RCV004822594] |
Chr9:134820199 [GRCh38]
Chr9:137712045 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4608+8T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005067900] |
Chr9:134822158 [GRCh38]
Chr9:137714004 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4608+19del |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV005175366] |
Chr9:134822169 [GRCh38]
Chr9:137714015 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5136+72G>A |
single nucleotide variant |
not provided [RCV005227494] |
Chr9:134830116 [GRCh38]
Chr9:137721962 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5071A>G (p.Arg1691Gly) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005106878] |
Chr9:134829979 [GRCh38]
Chr9:137721825 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5260G>A (p.Asp1754Asn) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005106879] |
Chr9:134835094 [GRCh38]
Chr9:137726940 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5228C>G (p.Thr1743Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005065530] |
Chr9:134835062 [GRCh38]
Chr9:137726908 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4447-18G>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005084864] |
Chr9:134820098 [GRCh38]
Chr9:137711944 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5415dup (p.Lys1806fs) |
duplication |
Ehlers-Danlos syndrome, classic type, 1 [RCV005054516] |
Chr9:134842196..134842197 [GRCh38]
Chr9:137734042..137734043 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5167G>A (p.Val1723Met) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005084928] |
Chr9:134835001 [GRCh38]
Chr9:137726847 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4645-21_4645-18del |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV005088730] |
Chr9:134823393..134823396 [GRCh38]
Chr9:137715239..137715242 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4823T>C (p.Met1608Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005195089] |
Chr9:134824724 [GRCh38]
Chr9:137716570 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5371-4C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005178768] |
Chr9:134842153 [GRCh38]
Chr9:137733999 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4713G>A (p.Glu1571=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005127086] |
Chr9:134824614 [GRCh38]
Chr9:137716460 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4822A>T (p.Met1608Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005122003] |
Chr9:134824723 [GRCh38]
Chr9:137716569 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5067+18T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005125048] |
Chr9:134825922 [GRCh38]
Chr9:137717768 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4758del (p.Asn1586fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV005129799] |
Chr9:134824659 [GRCh38]
Chr9:137716505 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.4830G>C (p.Glu1610Asp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005157419] |
Chr9:134824731 [GRCh38]
Chr9:137716577 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5062G>C (p.Glu1688Gln) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005157608] |
Chr9:134825899 [GRCh38]
Chr9:137717745 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5126G>T (p.Arg1709Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005134773] |
Chr9:134830034 [GRCh38]
Chr9:137721880 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4688del (p.Pro1563fs) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV005131445] |
Chr9:134823455 [GRCh38]
Chr9:137715301 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.4564G>T (p.Gly1522Cys) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005200789] |
Chr9:134822106 [GRCh38]
Chr9:137713952 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4998C>T (p.Ser1666=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005149820] |
Chr9:134825835 [GRCh38]
Chr9:137717681 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4699-15T>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005191618] |
Chr9:134824585 [GRCh38]
Chr9:137716431 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4746G>A (p.Arg1582=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005137953] |
Chr9:134824647 [GRCh38]
Chr9:137716493 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5485T>G (p.Phe1829Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005120398] |
Chr9:134842271 [GRCh38]
Chr9:137734117 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5371-10T>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005134324] |
Chr9:134842147 [GRCh38]
Chr9:137733993 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4696C>A (p.Pro1566Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005195088] |
Chr9:134823467 [GRCh38]
Chr9:137715313 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4969G>T (p.Asp1657Tyr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005141023] |
Chr9:134825806 [GRCh38]
Chr9:137717652 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5049T>C (p.Pro1683=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005137210] |
Chr9:134825886 [GRCh38]
Chr9:137717732 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5280del (p.Ser1759_Tyr1760insTer) |
deletion |
Ehlers-Danlos syndrome, classic type, 1 [RCV005137450] |
Chr9:134835114 [GRCh38]
Chr9:137726960 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.4554+16C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005152778] |
Chr9:134820239 [GRCh38]
Chr9:137712085 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4644+10A>C |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005074114] |
Chr9:134823043 [GRCh38]
Chr9:137714889 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5137-15C>A |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005205632] |
Chr9:134834956 [GRCh38]
Chr9:137726802 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4645-4C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005071518] |
Chr9:134823412 [GRCh38]
Chr9:137715258 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5419G>A (p.Val1807Met) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005151075] |
Chr9:134842205 [GRCh38]
Chr9:137734051 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5371-11_*33delinsATGAAGCAAGC |
indel |
Ehlers-Danlos syndrome, classic type, 1 [RCV005126893] |
Chr9:134842146..134842336 [GRCh38]
Chr9:137733992..137734182 [GRCh37]
Chr9:9q34.3 |
pathogenic |
| NM_000093.5(COL5A1):c.4530C>G (p.Gly1510=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005127843] |
Chr9:134820199 [GRCh38]
Chr9:137712045 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4608+4T>G |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004822581] |
Chr9:134822154 [GRCh38]
Chr9:137714000 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5145T>C (p.Tyr1715=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004822587] |
Chr9:134834979 [GRCh38]
Chr9:137726825 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4677C>T (p.His1559=) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004822595] |
Chr9:134823448 [GRCh38]
Chr9:137715294 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5399T>C (p.Leu1800Pro) |
single nucleotide variant |
Familial thoracic aortic aneurysm and aortic dissection [RCV004822596] |
Chr9:134842185 [GRCh38]
Chr9:137734031 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4798A>G (p.Asn1600Asp) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005087867] |
Chr9:134824699 [GRCh38]
Chr9:137716545 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4650A>G (p.Pro1550=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005086020] |
Chr9:134823421 [GRCh38]
Chr9:137715267 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4847A>G (p.Asn1616Ser) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005060846] |
Chr9:134824748 [GRCh38]
Chr9:137716594 [GRCh37]
Chr9:9q34.3 |
benign |
| NM_000093.5(COL5A1):c.4649C>T (p.Pro1550Leu) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005075372] |
Chr9:134823420 [GRCh38]
Chr9:137715266 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4856A>G (p.Lys1619Arg) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005126257] |
Chr9:134824757 [GRCh38]
Chr9:137716603 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.5370+15C>T |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005197859] |
Chr9:134835219 [GRCh38]
Chr9:137727065 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.5502T>C (p.Ala1834=) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005112936] |
Chr9:134842288 [GRCh38]
Chr9:137734134 [GRCh37]
Chr9:9q34.3 |
likely benign |
| NM_000093.5(COL5A1):c.4669G>A (p.Ala1557Thr) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005118723] |
Chr9:134823440 [GRCh38]
Chr9:137715286 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
| NM_000093.5(COL5A1):c.4796A>T (p.Glu1599Val) |
single nucleotide variant |
Ehlers-Danlos syndrome, classic type, 1 [RCV005082965] |
Chr9:134824697 [GRCh38]
Chr9:137716543 [GRCh37]
Chr9:9q34.3 |
uncertain significance |
