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: rs1553227742
rs1553227742
ASPM
1.000 1 197142866 stop gained G/C snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 10 2002 2016
dbSNP: rs1553326645
rs1553326645
ASPM
1.000 1 197094181 splice acceptor variant C/G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 10 2002 2016
dbSNP: rs587783211
rs587783211
ASPM
0.925 0.120 1 197086966 stop gained G/A snv 2.0E-05 3.5E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 10 2002 2016
dbSNP: rs1427299519
rs1427299519
ASXL1
1.000 20 32433315 stop gained C/T snv 8.0E-06 1.4E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 7 2004 2015
dbSNP: rs1555912419
rs1555912419
ASXL1
20 32435823 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 7 2004 2015
dbSNP: rs777537805
rs777537805
ASXL1
1.000 20 32433740 frameshift variant TG/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 7 2004 2015
dbSNP: rs1555742087
rs1555742087
ASXL3
1.000 18 33738757 frameshift variant G/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 9 2011 2017
dbSNP: rs1555859593
rs1555859593
ATP1A3
1.000 19 41970483 missense variant G/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 27 1988 2017
dbSNP: rs121964881
rs121964881
ATP6V1B1 ; VAX2
1.000 2 70958103 missense variant G/A snv 2.0E-05 9.1E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 9 1995 2017
dbSNP: rs782138777
rs782138777
ATP6V1B1 ; VAX2
1.000 0.280 2 70958399 stop gained C/T snv 1.2E-05 1.4E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 9 1995 2017
dbSNP: rs515726137
rs515726137
ATP8B1 ; LOC100505549
1.000 0.200 18 57669422 stop gained C/A snv 1.4E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 6 1998 2015
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: rs1563183469
rs1563183469
AUTS2
0.925 0.120 7 70766245 missense variant A/C snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 0
dbSNP: rs1555202806
rs1555202806
BBS10
1.000 0.120 12 76348313 frameshift variant AACGCCGC/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 17 1999 2013
dbSNP: rs1314314373
rs1314314373
BCL11B
1.000 14 99176115 stop gained G/A;C snv 4.1E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 19 2003 2016
dbSNP: rs1555918056
rs1555918056
BCOR
X 40072918 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 0
dbSNP: rs1555815731
rs1555815731
BMP7
20 57228383 frameshift variant G/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 3 2007 2014
dbSNP: rs753044214
rs753044214
BPTF
1.000 17 67903835 frameshift variant A/-;AA delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 19 1995 2017
dbSNP: rs180177035
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 8 1968 2013
dbSNP: rs869025340
rs869025340
BRAF
0.925 0.160 7 140777032 missense variant A/C;G;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 8 1968 2013
dbSNP: rs1318353774
rs1318353774
CACNA1A
1.000 19 13298827 stop gained G/A;C snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 46 1988 2017
dbSNP: rs267606701
rs267606701
CANT1
1.000 0.160 17 78993858 missense variant G/A snv 1.7E-05 7.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 3 2011 2015
dbSNP: rs587776897
rs587776897
CANT1
1.000 0.160 17 78997345 frameshift variant AG/- del 6.3E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 3 2011 2015
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