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: rs1555393172
rs1555393172
DLL4
15 40936659 frameshift variant CGGACGACGGC/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 22 1996 2013
dbSNP: rs781978013
rs781978013
KMT2A
1.000 11 118472681 stop gained G/A;T snv 4.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 22 1989 2017
dbSNP: rs797044875
rs797044875
CTNNB1
1.000 3 41235763 missense variant G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 22 1991 2017
dbSNP: rs1553551705
rs1553551705
SATB2
1.000 2 199349065 frameshift variant GT/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 21 1989 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: rs1554231814
rs1554231814
ARID1B
6 157184262 frameshift variant C/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 20 1984 2017
dbSNP: rs1554234424
rs1554234424
ARID1B
1.000 6 157196295 stop gained T/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 20 1984 2017
dbSNP: rs1554236054
rs1554236054
ARID1B
1.000 6 157201481 frameshift variant -/G delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 20 1984 2017
dbSNP: rs1554599036
rs1554599036
CHD7
1.000 8 60828698 frameshift variant GAACACTGTGGAAGAAC/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 20 1999 2016
dbSNP: rs1554603550
rs1554603550
CHD7
8 60850514 missense variant T/G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 20 1999 2016
dbSNP: rs1554604059
rs1554604059
CHD7
8 60852866 frameshift variant AG/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 20 1999 2016
dbSNP: rs1554605030
rs1554605030
CHD7
8 60856559 frameshift variant -/T delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 20 1999 2016
dbSNP: rs886041166
rs886041166
CHD7
1.000 8 60742366 stop gained C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 20 1999 2016
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: rs1348892740
rs1348892740
NOTCH1
9 136523954 stop gained G/A snv 6.2E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 19 1999 2019
dbSNP: rs1553706324
rs1553706324
SCN5A
3 38614067 splice acceptor variant C/G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 19 1998 2014
dbSNP: rs1554728529
rs1554728529
NOTCH1
1.000 9 136508989 frameshift variant A/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 19 1999 2019
dbSNP: rs1554826746
rs1554826746
NOTCH1
9 136499244 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 19 1999 2019
dbSNP: rs1555907749
rs1555907749
EP300
22 41131612 frameshift variant -/T delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 19 1963 2016
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: rs1553153365
rs1553153365
HNRNPR
1 23310702 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 18 1998 2014
dbSNP: rs1554121353
rs1554121353
SYNGAP1 ; MIR5004
6 33438527 frameshift variant A/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 18 2004 2017
dbSNP: rs1555475250
rs1555475250
CREBBP
16 3744921 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 18 1963 2017
dbSNP: rs1555478331
rs1555478331
CREBBP
16 3757990 frameshift variant T/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 18 1963 2017
dbSNP: rs1555984102
rs1555984102
DYRK1A ; LOC105372797
21 37490194 frameshift variant AT/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 18 1990 2016