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: rs587777695
rs587777695
ZSWIM6
0.925 0.120 5 61544156 missense variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 3 2014 2017
dbSNP: rs1350201776
rs1350201776
ZNF335
20 45952244 missense variant C/T snv 4.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 5 2009 2016
dbSNP: rs797044854
rs797044854
ZMYND11
0.925 10 252459 missense variant C/A;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 8 2006 2015
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: rs1555933851
rs1555933851
ZC4H2
1.000 X 64919152 frameshift variant -/G delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 2 2013 2015
dbSNP: rs797044863
rs797044863
ZC4H2
1.000 X 64921894 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 2 2013 2015
dbSNP: rs797044885
rs797044885
ZBTB18
0.925 1 244055156 missense variant A/G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 26 1997 2017
dbSNP: rs797044806
rs797044806
XYLT2
0.925 17 50354465 frameshift variant -/C delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 4 2015 2018
dbSNP: rs387907329
rs387907329
WDR45 ; PRAF2
0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 10 2010 2017
dbSNP: rs1553353206
rs1553353206
WDR26 ; MIR4742
1.000 1 224398525 frameshift variant CATTTAACAA/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 1 2017 2017
dbSNP: rs864321692
rs864321692
WAC
0.925 10 28583498 stop gained C/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 6 2011 2016
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
dbSNP: rs137853063
rs137853063
VRK1
0.882 0.080 14 96876033 stop gained C/G;T snv 6.4E-05; 4.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 1 2015 2015
dbSNP: rs1442840881
rs1442840881
VPS33B
15 91006391 frameshift variant -/G delins 4.0E-06 2.1E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 5 2004 2015
dbSNP: rs398122407
rs398122407
VPS33B
1.000 0.200 15 91004872 splice region variant C/G snv 2.0E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 5 2004 2015
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: rs80338903
rs80338903
USH2A
0.701 0.360 1 216247095 frameshift variant C/- del 7.6E-04 5.4E-04
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 15 2000 2015
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: 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: rs1555625571
rs1555625571
TUBB3
16 89934974 missense variant G/C snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 10 2010 2016
dbSNP: rs587777357
rs587777357
TUBB
0.925 6 30724263 missense variant G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 3 2012 2015
dbSNP: rs1555162323
rs1555162323
TUBA1A
1.000 12 49185407 missense variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 11 2007 2016
dbSNP: rs1555162407
rs1555162407
TUBA1A
12 49185942 missense variant C/A;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 11 2007 2016
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: rs1553650442
rs1553650442
TTN ; TTN-AS1
0.925 0.160 2 178593732 frameshift variant C/-;CCC delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 14 1991 2014