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: rs1555188379
rs1555188379
KMT2D
12 49032761 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 25 1988 2017
dbSNP: rs1555205335
rs1555205335
TRPV4
12 109788404 missense variant A/C snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 24 1976 2017
dbSNP: rs1553631783
rs1553631783
CTNNB1
3 41233416 frameshift variant G/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 22 1991 2017
dbSNP: rs1555047506
rs1555047506
KMT2A
11 118505003 frameshift variant GTTT/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 22 1989 2017
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: 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: 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: 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: 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: 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
dbSNP: rs1553268563
rs1553268563
USH2A
1 215845823 coding sequence variant C/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 15 2000 2015
dbSNP: rs1555564006
rs1555564006
EFTUD2
17 44852563 splice acceptor variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 15 2006 2017
dbSNP: rs1553485330
rs1553485330
TTN ; TTN-AS1
2 178531129 frameshift variant C/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 14 1991 2014
dbSNP: rs111033284
rs111033284
MYO7A
11 77156991 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 13 1995 2011
dbSNP: rs1554787366
rs1554787366
COL27A1
9 114167926 frameshift variant T/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 13 1994 2017
dbSNP: rs1554816354
rs1554816354
COL27A1
9 114252621 missense variant G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 13 1994 2017
dbSNP: rs1555198839
rs1555198839
VWF
12 6062953 splice donor variant C/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 13 1987 2015