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: 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: 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: rs147001633
rs147001633
DNMT3A
0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 36 1989 2018
dbSNP: rs1554698878
rs1554698878
HNRNPK
0.925 9 83971976 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 30 1996 2018
dbSNP: rs797044953
rs797044953
SETD5
1.000 3 9447684 splice acceptor variant A/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 26 1995 2018
dbSNP: rs1554396271
rs1554396271
COL1A2
0.925 0.120 7 94410899 missense variant G/A;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 16 1979 2018
dbSNP: rs1555240361
rs1555240361
MED13L
1.000 12 115966138 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 16 1971 2018
dbSNP: rs1555240376
rs1555240376
MED13L
1.000 12 115966189 missense variant G/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 16 1971 2018
dbSNP: rs1555248020
rs1555248020
MED13L
1.000 12 116009052 stop gained G/C snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 16 1971 2018
dbSNP: rs72658127
rs72658127
COL1A2
1.000 7 94413139 splice region variant A/G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 16 1979 2018
dbSNP: rs672601370
rs672601370
KIF1A
0.790 0.160 2 240775863 missense variant G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 15 2011 2018
dbSNP: rs1057519927
rs1057519927
PIK3CA
0.716 0.240 3 179218295 missense variant A/C;G;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 14 2006 2018
dbSNP: rs777218310
rs777218310
ECHS1
0.925 10 133369907 frameshift variant TA/- delins 1.6E-05 1.3E-04
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 14 2014 2018
dbSNP: rs587777621
rs587777621
CCND2
1.000 12 4299980 missense variant C/G;T snv 7.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 13 2004 2018
dbSNP: rs1131692232
rs1131692232
PUF60
0.851 0.160 8 143818426 inframe deletion GGGCAAAGG/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 12 1999 2018
dbSNP: rs1554643463
rs1554643463
PUF60
8 143818387 frameshift variant T/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 12 1999 2018
dbSNP: rs1554643598
rs1554643598
PUF60
1.000 8 143818507 frameshift variant C/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 12 1999 2018
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: rs1064794957
rs1064794957
STAT3
17 42317182 missense variant G/A;C snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 11 2007 2018
dbSNP: rs1348467293
rs1348467293
GUCY2D
1.000 17 8007529 splice donor variant G/A snv 4.0E-06 7.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 9 2000 2018
dbSNP: rs143745703
rs143745703
GUCY2D
1.000 17 8003979 stop gained C/G;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 9 2000 2018
dbSNP: rs878853160
rs878853160
CDK13
0.882 0.120 7 40046007 missense variant A/G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 9 2009 2018
dbSNP: rs1304422857
rs1304422857
UBE3B
1.000 12 109511304 splice donor variant G/A;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 8 2003 2018
dbSNP: rs199470477
rs199470477
KAT6B ; DUPD1
1.000 0.320 10 75029027 frameshift variant CT/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 8 2011 2018