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: rs1553923787
rs1553923787
PPP3CA
1.000 4 101083202 missense variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 13 1987 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
dbSNP: rs1318353774
rs1318353774
CACNA1A
1.000 19 13298827 stop gained G/A;C snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 46 1988 2017
dbSNP: rs1555899177
rs1555899177
SON
1.000 21 33554005 frameshift variant ACTC/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 28 1988 2016
dbSNP: rs1555899379
rs1555899379
SON
1.000 21 33554726 stop gained CTG/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 28 1988 2016
dbSNP: rs1555859593
rs1555859593
ATP1A3
1.000 19 41970483 missense variant G/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 27 1988 2017
dbSNP: rs1555184787
rs1555184787
KMT2D
1.000 12 49022591 frameshift variant -/G delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 25 1988 2017
dbSNP: rs1555187440
rs1555187440
KMT2D
1.000 12 49031293 frameshift variant TT/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 25 1988 2017
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: rs1555188623
rs1555188623
KMT2D
1.000 12 49033147 frameshift variant -/AGCCTGTGTCC delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 25 1988 2017
dbSNP: rs1555194443
rs1555194443
KMT2D
1.000 12 49044766 frameshift variant G/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 25 1988 2017
dbSNP: rs574622908
rs574622908
KMT2D
1.000 12 49046358 stop gained G/C;T snv 4.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 25 1988 2017
dbSNP: rs587783685
rs587783685
KMT2D
0.925 0.120 12 49032113 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 25 1988 2017
dbSNP: rs794727688
rs794727688
KMT2D
1.000 12 49026431 missense variant G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 25 1988 2017
dbSNP: rs386834236
rs386834236
GAA
0.882 0.120 17 80104542 intron variant T/G snv 3.4E-03 3.8E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 18 1988 2015
dbSNP: rs764622267
rs764622267
GAA
0.925 0.120 17 80107718 missense variant C/G;T snv 5.1E-06; 5.1E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 18 1988 2015
dbSNP: rs1555392032
rs1555392032
SPRED1
1.000 15 38339805 frameshift variant -/A delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 14 1988 2013
dbSNP: rs201553266
rs201553266
NEB
0.882 0.080 2 151551738 splice region variant C/T snv 2.8E-05 7.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 12 1988 2017
dbSNP: rs755531536
rs755531536
NEB
0.925 0.080 2 151694370 frameshift variant C/- del 7.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 12 1988 2017
dbSNP: rs767858333
rs767858333
DOCK1
1.000 10 127042665 frameshift variant -/G delins 4.0E-06; 1.6E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 10 1988 2017
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: rs1555039606
rs1555039606
KMT2A
1.000 11 118482436 frameshift variant A/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 22 1989 2017
dbSNP: rs1555046615
rs1555046615
KMT2A
1.000 11 118503389 frameshift variant A/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 22 1989 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: 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