| Pt | Sex | Age (y) | Hx-PEa | JtSnFlexb | DysAc | PreDxd | DNA variant,e source,f GeneDxg and authorh qualifiers, prior occurrencei | ClinDx,j tissue impact/systems involved,k prior disease associationl |
| 1 | f | 13.7 | 48-20a | 9-4-7b | 14c | cd | COL1A1 p.Pro982Thr c.2944C>A,e matf VUSg VSDU-3+h Vi5 (LkPath-1)G1H1h rs141117382-2pti | AAD-cEDS,j -Oss-Er-CVS-Nmk COL1A1 M120050 a/w OI types 1-IV M166200+l EDS cardiovascular M225320+;l utility increased by the sodium channel M601827 gene variant a/w atrial fibrillation-14 M615378; the potassium channel, voltage-gated type II, subfamily H, member 2 M152427 gene variant a/w long QT syndrome-2 M613688 suggests dual diagnoses (+ arrhythmia). |
| KCNH2 p.Arg1005Gln c.3014 G>A pat VUS VCDUO Vi4 (VUS-0)G1H1 rs199473019-1pt | ||||||||
| SCN2B p.Arg28Gln c.83G>A patSx VUS VSDUS Vi5 (LkPath-1)G1H1 rs72544145-1pt-Path-atrial fibrillation | ||||||||
| 2 | m | 14.4 | 23-16 | 6-1-9 | 6 | h | COL1A2 p.Arg432Gln c.1295G>A unknown VUS VSDU-3+ Vi5 (LkPath-1)G1H1 rs139446305-3pt-1LkPath-EDS | AAD-hEDS-Oss-Er-CVS COL1A2 M120160 a/w OI types II-IV M166210+, arthrochalasia EDS M617821+; utility increased by the collagen type XV M120325 gene variant, no disease correlation yet but likely with AAD as a collagen gene. |
| COL15A1 IVS1 6T>G c.12 6T>G matSx VUS VSDUS Vi6 (LkPath-1) G1H1 new | ||||||||
| 3 | f | 19.9 | 44-15 | 10 - 4-9 | 13 | h | COL11A1 p.Leu654Pro c.1961T>C patSx broSx VUS VADU-4+ Vi6 (LkPath-1)G1H2 rs1131691449-1pt | AAD-mEDS-Oss-Ey-Nm COL11A1 M120280 a/w Marshall M154280 and Stickler M604841 syndromes; utility increased by the myosin heavy chain 2 gene M160740 variant a/w myopathy and ophthalmoplegia M605637 |
| MYH2 p.Val102Met c.304G>A unknown broSx VUS VCDUS Vi5 (LkPath-1)G0H1 rs1131691454-1pt | ||||||||
| 4 | f | 38.4 | 36-22 | 6-4-8 | 14 | h | COL11A2 p.Arg1020Ter c.3058C>T trans patSx LkPath VADU-4+Vi6 (LkPath-1) G1H2 rs911722283-1pt-1LkPath-?disease | AAD-hEDS-Oss-Ey COL11A2 M120280 skeletal dysplasia M614524+ and hearing loss M601868+; utility increased by additional COL11A2 gene variant |
| COL11A2 p.Arg1551Gln c.4652 G>A trans matSx VUS VADUS Vi6 (LkPath-1)G1H2 | ||||||||
| 5 | f | 36.8 | 43-19 | 8-3-11 | 14 | h | VWF p.Arg854Gln c.2561G>A unknown LkPath VADU-4+Vi6 (LkPath-1)G2H1rs41276738-10pt-9Path-von Willebrand disease | AAD-hEDS-Vss-Heme VWF M613160 von Willebrand factor a/w von Willebrand diseases (vWD) M193400+l |
| 6 | f | 34.7 | 40-24 | 8-1-10 | 16 | h | COL3A1 p.His34Arg c.101A>G unknown VUS VCDU-2+Vi2 (VUS-0)G1H1 rs752110396-2pt | AAD-hEDS-Vss-CVS COL3A1 M120180 a/w vascular EDS M130050 and polymicrogyria M618343 |
| 7 | f | 0.2 | 7-7 | 0-1-6 | 3 | n | COL5A1 p.Asp1761Gln c.5281G>A unknown Path VCDU-2+Vi5 (LkPath-1)G1H0 new | AAD-hEDS-Mtx-Epi |
| 8 | f | 19.1 | 43-24 | 7-4-8 | 15 | h | COL5A2 p.Gly126Ser c.376 G>A unknown VUS VCDU-2+Vi3 (VUS-0)G1H1 rs779153546-2pt-1LkPath | AAD-cEDS-Mtx-Epi COL5A2 M120190 a/w classical EDS-2 (M130010)l |