Autosomal genes (n = 8)
|
ANO5#
|
14,640.p1 (M)
|
Chet
|
chr11:22,242,756
|
G
|
A
|
NM_213599
|
SP/Syn
|
c.294G > A
|
SP/p.A98A
|
0.0007
|
0
|
Gnathodiaphyseal dysplasia (AD); Miyoshi muscular dystrophy 3 (AR); Muscular dystrophy, limb-girdle, autosomal recessive 12 (AR)
|
VUS
|
chr11: 22,294,441
|
C
|
G
|
NM_213599
|
Mis
|
c.2141C > G
|
p.T714S
|
0.0009
|
P
|
ATAD3A*
|
14,517.p1 (M)
|
Chet
|
chr1:1,469,361
|
G
|
A
|
NM_001170535
|
Mis
|
c.1670G > A
|
p.R557H
|
0.0002
|
0
|
Harel-Yoon syndrome (AD, AR); Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (AR)
|
VUS
|
chr1:1,469,380
|
G
|
-
|
NM_001170535
|
FS
|
c.1689delG
|
p.Q563Hfs*9
|
0
|
P
|
ATG7
|
13,998.p1 (M)
|
Chet
|
chr3:11,389,351
|
G
|
T
|
NM_006395
|
SP/Mis
|
c.1126G > T
|
SP/p.G376C
|
5.58E-05
|
0
| |
VUS
|
chr3:11,404,365
|
G
|
A
|
NM_006395
|
Mis
|
c.1762G > A
|
p.V588M
|
0.0001
| |
VUS
|
HIPK3
|
13,076.p1 (M)
|
Homo
|
chr11:33,374,639
|
T
|
C
|
NM_001048200
|
SP/Mis
|
c.3110 T > C
|
SP/p.V1037A
|
0.0008
|
0.28
| |
VUS
|
I NTS4
|
14,051.p1 (M)
|
Chet
|
chr11:77,635,920
|
G
|
A
|
NM_033547
|
SG
|
c.1390C > T
|
p.R464X
|
1.23E-05
|
0
| |
VUS
|
chr11:77,649,828
|
G
|
A
|
NM_033547
|
Mis
|
c.1034C > T
|
p.S345L
|
0.0004
| |
VUS
|
LLGL1
|
14,404.p1 (M)
|
Homo
|
chr17:18,138,154
|
G
|
A
|
NM_004140
|
SP/Mis
|
c.907G > A
|
SP/p.G303S
|
0.0009
|
0
| |
VUS
|
RFT1*
|
11,176.p1 (M)
|
Chet
|
chr3:53,133,472
|
T
|
C
|
NM_052859
|
Mis
|
c.1133A > G
|
p.Y378C
|
0.0005
|
0
|
Congenital disorder of glycosylation (AR)
|
VUS
|
chr3:53,126,384
|
C
|
–
|
NM_052859
|
SP
|
c.1458 + 1G > -
|
SP
|
4.53E-06
|
P
|
VPS13B*
|
12,651.p1 (M)
|
Chet
|
chr8:100,829,780
|
G
|
A
|
NM_017890
|
Mis
|
c.8185G > A
|
p.G2729R
|
7.98E-06
|
0
|
Cohen syndrome (AR)
|
LP
|
chr8:100,396,500
|
G
|
A
|
NM_017890
|
SG
|
c.2889G > A
|
p.W963X
|
0
|
P
|
X-linked genes (n = 13)
|
AFF2*
|
14,096.p1 (M)
|
Hem
|
chrX:148,068,931
|
-
|
C
|
NM_001170628
|
FS
|
c.2582dupC
|
p.I863Hfs*6
|
0
|
1
|
Mental retardation, X-linked, FRAXE type (XLR)
|
P
|
APOO
|
14,187.p1 (M)
|
Hem
|
chrX:23,886,804
|
G
|
A
|
NM_024122
|
SP/Syn
|
c.294C > T
|
SP/p.D98D
|
0
|
0.6
| |
VUS
|
CCDC22*
|
12,325.p1 (M)
|
Hem
|
chrX:49,105,278
|
A
|
C
|
NM_014008
|
SP/Mis
|
c.1432A > C
|
SP/p.M478L
|
0
|
1
|
Ritscher-Schinzel syndrome 2 (XLR)
|
LP
|
11,720.p1 (M)
|
chrX:49,105,359
|
C
|
T
|
NM_014008
|
Mis
|
c.1513C > T
|
p.R505W
|
6.18E-05
|
LP
|
CUL4B*
|
14,363.p1 (M)
|
Hem
|
chrX:119,708,407
|
A
|
G
|
NM_003588
|
SP/Syn
|
c.66 T > C
|
SP/p.G22G
|
0
|
1
|
Mental retardation, syndromic 15 (XLR)
|
LP
|
CYBB#
|
14,070.p1 (M)
|
Hem
|
chrX:37,664,420
|
A
|
G
|
NM_000397
|
SP/Mis
|
c.1313A > G
|
SP/p.K438R
|
4.39E-05
|
1
|
Chronic granulomatous disease, X linked (XLR); Immunodeficiency 34, mycobacteriosis (XLR)
|
LP
|
GRIPAP1
|
14,524.p1 (M)
|
Hem
|
chrX:48,837,828
|
C
|
T
|
NM_020137
|
SP/Syn
|
c.1830G > A
|
SP/p.A610A
|
0.0001
|
1
| |
VUS
|
HDAC8*
|
13,136.p1 (M)
|
Hem
|
chrX:71,694,562
|
G
|
-
|
NM_001166419
|
FS
|
c.755delC
|
p.P252Qfs
|
7.35E-05
|
0.98
|
Cornelia de Lange syndrome 5 (XLD)
|
LP
|
IL13RA1
|
11,167.p1 (M)
|
Hem
|
chrX:117,881,009
|
T
|
G
|
NM_001560
|
Mis
|
c.321 T > G
|
p.S107R
|
0
|
0.96
| |
VUS
|
11,488.p1 (M)
|
chrX:117,895,252
|
C
|
T
|
NM_001560
|
SP/Syn
|
c.828C > T
|
SP/p.Y276Y
|
2.48E-05
| |
VUS
|
MED12*
|
11,217.p1 (M)
|
Hem
|
chrX:70,343,445
|
G
|
A
|
NM_005120
|
SP/Mis
|
c.1619G > A
|
SP/p.R540H
|
1.33E-05
|
1
|
Lujan-Fryns syndrome (XLR), Ohdo syndrome(XLR), Opitz-Kaveggia syndrome (XLR)
|
VUS
|
12,626.p1 (M)
|
chrX:70,352,298
|
A
|
G
|
NM_005120
|
Mis
|
c.4325A > G
|
p.H1442R
|
0
|
LP
|
RBMX*
|
13,063.p1 (M)
|
Hem
|
chrX:135,957,417
|
C
|
T
|
NM_002139
|
SP/Mis
|
c.782G > A
|
SP/p.S261N
|
0
|
0.83
|
Mental retardation, X-linked, syndromic 11, Shashi type (XLR)
|
LP
|
SLC38A5
|
14,423.p1 (M)
|
Hem
|
chrX:48,325,258
|
C
|
T
|
NM_033518
|
SP/Mis
|
c.247G > A
|
SP/p.A83T
|
0
|
0.98
| |
VUS
|
UBE2A*
|
12,440.p1 (M)
|
Hem
|
chrX:118,716,638
|
A
|
T
|
NM_003336
|
SP/Mis
|
c.329A > T
|
SP/p.Q110L
|
0
|
0.82
|
Mental retardation, X-linked syndromic, Nascimento-type (XLR)
|
LP
|
USP9X*
|
13,929.p1 (M)
|
Hem
|
chrX:40,982,891
|
A
|
G
|
NM_001039590
|
Mis
|
c.10A > G
|
p.T4A
|
1.52E-05
|
1
|
Mental retardation, X-linked 99(XLR); Mental retardation, X-linked 99, syndromic, female-restricted (XLD)
|
LP
|
11,358.p1 (M)
|
chrX:40,996,058
|
G
|
A
|
NM_001039590
|
SP/Mis
|
c.437G > A
|
SP/p.R146K
|
0
|
LP
|
12,628.p1 (M)
|
chrX:41,012,318
|
G
|
C
|
NM_001039590
|
Mis
|
c.1881G > C
|
p.M627I
|
1.39E-05
|
LP
|