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: rs1553961697
rs1553961697
ZEB2
2 144399650 frameshift variant G/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 8 2005 2017
dbSNP: rs587777384
rs587777384
ACTG2
1.000 0.040 2 73913566 missense variant G/A;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 7 2009 2017
dbSNP: rs1341894581
rs1341894581
ECEL1
0.925 2 232486499 frameshift variant ACCGGGCCCCGGTGGCGCTGCGCGCAGCGCCCAACGGGAAGCCCGG/- delins 3.3E-04 1.1E-04
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 5 2013 2015
dbSNP: rs1553477189
rs1553477189
GLI2
2 120982843 frameshift variant -/C delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 5 2003 2013
dbSNP: rs1553479405
rs1553479405
GLI2
1.000 2 120989603 frameshift variant C/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 5 2003 2013
dbSNP: rs761532715
rs761532715
PKDCC
1.000 2 42053250 stop gained C/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 5 2009 2014
dbSNP: rs797044677
rs797044677
CHRNG
1.000 2 232540049 frameshift variant -/C delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 5 2006 2016
dbSNP: rs869312965
rs869312965
GLI2
1.000 2 120955349 frameshift variant G/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 5 2003 2013
dbSNP: rs1282248700
rs1282248700
RAB3GAP1
1.000 2 135133919 frameshift variant GT/- delins 1.4E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 4 2005 2013
dbSNP: rs137852769
rs137852769
HADHA ; GAREM2
0.827 0.280 2 26195184 missense variant C/G snv 1.2E-03 1.0E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 4 2002 2017
dbSNP: rs387906589
rs387906589
ACVR1
0.925 0.120 2 157766004 missense variant C/A;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 4 1996 2015
dbSNP: rs752667359
rs752667359
RAB3GAP1
1.000 2 135134005 stop gained C/T snv 1.2E-05 7.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 4 2005 2013
dbSNP: rs1553327954
rs1553327954
SOX11
2 5693512 stop gained C/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 3 2004 2016
dbSNP: rs1553565140
rs1553565140
TWIST2 ; LOC100287387
0.925 0.240 2 238848438 missense variant G/A;C snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 3 2010 2015
dbSNP: rs1281877795
rs1281877795
MTIF2
1.000 2 55249467 frameshift variant CTTTTTTCACT/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 0
dbSNP: rs1553535063
rs1553535063
NDUFB3
2 201085517 frameshift variant T/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 0
dbSNP: rs779617179
rs779617179
NRP2
2 205763747 frameshift variant T/- del 7.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 0
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: rs1553631770
rs1553631770
CTNNB1
1.000 3 41233398 missense variant A/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 22 1991 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: 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: 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: rs80338796
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 15 2006 2016
dbSNP: rs80338797
rs80338797
RAF1
0.827 0.160 3 12584624 missense variant G/C;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 15 2006 2016
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