9

f

10.2

28-13

6-1-8

6

h

FBN1 p.Leu925Val c.2773C>G patSx VUS VSDU-3+Vi2 (VUS-0)G1H2 rs149681175-1pt

AAD-hEDS-Mtx-Ey-CVS-Dig FBN1 M134797 a/w Marfan 154,700+, skeletal dysplasia M102370+; the HFE (M613609) gene variant a/w hemochromatosis-1 M35200 and susceptibility for porphyria cutanea tarda M176100 suggests dual diagnoses

(+ hemochromatosis carrier)

HFE p.Cys282Tyr c.845G>A homozygous mat/pat Path VADUO

Vi7 (LkPath-1)G2H1 rs1800562->10pt-Path-hemochromatosis

MYBPC3 p.Val757Met c.2269G>A matSx LkPath VADUOVi7 (LkPath-1)G1H2 rs369790992-5pt

10

f

60.3

36-12

8-4-5

11

h

TGFB2 p.Ile239Phe c.715A>T unknown VUS VSDU-3+Vi5 (LkPath-1)G1H1 rs1131691445-1pt-Path-LDS4

AAD-hEDS-Mtx-CVS-Pul TGFB2 M190220 a/w Loeys-Dietz syndrome-4 (LDS4) M614816

11

f

38.8

42-16

8-3-10

14

h

TGFB3 IVS4 (intron4)-1G>C c.755-1G>C unknown VUS VADU-4+Vi8 (Path-2)G1H1 new

AAD-hEDS-Mtx-CVS-Sk TGFB3 M190230 a/w LDS5 M615582 and arrhythmogenic RV dysplasia M107970

12

f

41.5

30-16

2-3-4

14

c

TGFBR1 p.Tyr291Cys c.872A>G matSx VUS VADU-4+Vi6 (LkPath-1)G1H3 new

AAD-cEDS-Mtx-CVS-Epi-Sk TGFBR1 M190181 a/w LDS-1 M609192; utility increased by the profilaggrin M135940

gene variants a/w ichthyosis vulgaris M146700 and atopic dermatitis-2 M605803

FLG p.Arg501Ter c.1501C>Tunknown Path VADUS

Vi6 (Path-2)G2H1 1.6% rs61816761-5pt-4Path-ichthyosis

FLG p.Ser3247Ter c.9740C>A matSx Path VADUS

Vi6 (LkPath-1)G1H2 rs150597413-1pt-1Path

13

f

18.1

41-18

8-3-9

13

h

TGFBR2 p.Glu151Val c.452A>T matSx VUS VADU-4+Vi6 (LkPath-1)G1H2 new

AAD-hEDS-Mtx-CVS-Di-Sk TGFBR2 M190182 a/w

LDS2 and colorectal cancer 614331

14

f

36.6

47-9

7-2-4

17

c

SCN9A p.Glu1129Asp c.3387A>T unknown VUS VSDU-3+Vi5 (LkPath-1)G1H1 new

AAD-mEDS-Nrv

15

f

35.8

30-12

3-1-6

13

c

SCN10A p.Val1617Phe c.4849G>T matSx VUS VADU-4+Vi6 (LkPath-1)G1H2 rs375940680 - 4pt

AAD-mEDS-Nrv SCN10A sodium channel type X α-subunit M604437 a/w familial pain syndrome-2 M615551^l

16

f

45.9

30-13

7-2-7

12

c

SCN11A p.Gln367Arg c.1100A>G unknown VUS VSDU-3+

Vi4 (VUS-1)G1H1 new

AAD-mEDS-Nrv SCN11A sodium channel type XI,

α-subunit M604385 a/w HSAN VII M615548+

17

f

36.8

39-16

8-2-9

15

h

POLG p.His277Leu c.830A>T unknown Path VADU-4+

Vi6 (LkPath-1)G2H1 rs138929605-6pt-1LkPath

AAD-mEDS-Nrv-Nm POLG M174763 gene variant a/w mitochondrial depletion/MNGIE-4B M613662+

18

m

16.9

36-12

7-0-7

12

h

COL6A1 p.Thr214Met c.641C>T patSx VUS VADU-4+

Vi6 (LkPath-1)G1H2 NM_001848.2-1pt

AAD-mEDS-Nrv COL6A1 M120220 a/w Bethlem myopathy-1 M158810, AR Ulrich dystrophy-1 M254090

19

f

31.4

19-16

3-0-6

7

d

COL6A2 p.Arg317His c.950G>A patSx VUS VADU-4+

Vi5 (LkPath-1)G1H2 rs373782637-1pt

AAD-mEDS-Nrv-Nm COL6A2 M120240 a/w Bethlem

myopathy-1 M158810, AR Ulrich dystrophy-1 M254090