Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs122445110
rs122445110
ATRX
0.882 0.200 X 77589902 missense variant A/G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 21 1992 2017
dbSNP: rs1557082399
rs1557082399
ATRX
1.000 X 77593803 stop gained C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 21 1992 2017
dbSNP: rs1556308480
rs1556308480
KDM6A
1.000 X 45059287 stop gained C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 17 1998 2016
dbSNP: rs1057519430
rs1057519430
DDX3X
0.925 X 41346946 missense variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 16 1989 2017
dbSNP: rs1555950665
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
1.000 X 41334255 start lost G/C snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 16 1989 2017
dbSNP: rs1555953882
rs1555953882
DDX3X
1.000 X 41345507 frameshift variant GACA/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 16 1989 2017
dbSNP: rs1556886034
rs1556886034
SMC1A
0.925 0.080 X 53382594 missense variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 16 1995 2017
dbSNP: rs1557179659
rs1557179659
FLNA
1.000 X 154367943 missense variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 16 1999 2017
dbSNP: rs1555979596
rs1555979596
SLC16A2 ; LOC105373252
1.000 0.080 X 74421994 frameshift variant CT/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 15 1990 2016
dbSNP: rs1556334793
rs1556334793
MED12
1.000 X 71122558 frameshift variant G/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 14 1993 2016
dbSNP: rs1556340124
rs1556340124
MED12
1.000 X 71141320 stop gained C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 14 1993 2016
dbSNP: rs1555977248
rs1555977248
CASK
1.000 X 41542781 stop gained T/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 13 2008 2015
dbSNP: rs1556105875
rs1556105875
EFNB1
X 68838630 stop gained A/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 12 1996 2018
dbSNP: rs1556267123
rs1556267123
PLP1 ; RAB9B
X 103786627 frameshift variant AG/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 12 1989 2016
dbSNP: rs1556299881
rs1556299881
PRPS1
1.000 X 107640900 splice acceptor variant A/G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 12 1993 2015
dbSNP: rs1555927554
rs1555927554
RPS6KA3
1.000 X 20164964 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 11 2001 2015
dbSNP: rs1557189592
rs1557189592
FGD1
1.000 X 54470120 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 11 1996 2014
dbSNP: rs756586058
rs756586058
FGD1
1.000 0.160 X 54470715 frameshift variant G/-;GG delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 11 1996 2014
dbSNP: rs878853048
rs878853048
HDAC8
X 72567910 missense variant C/G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 11 2004 2016
dbSNP: rs1555934843
rs1555934843
PDHA1
1.000 X 19357651 splice acceptor variant G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 10 1995 2016
dbSNP: rs387907329
rs387907329
WDR45 ; PRAF2
0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 10 2010 2017
dbSNP: rs606231189
rs606231189
PDHA1 ; MAP3K15
0.925 0.040 X 19359619 frameshift variant -/ATCA delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 10 1995 2016
dbSNP: rs137852217
rs137852217
AMER1
0.925 0.040 X 64192215 stop gained G/A;T snv 1.6E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 8 1980 2017
dbSNP: rs1555904596
rs1555904596
ANOS1
1.000 X 8731936 frameshift variant -/AGCAGCCGCGC delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 7 1991 2014
dbSNP: rs1556038028
rs1556038028
NHS
X 17724421 stop gained C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 7 2002 2014