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: rs1131690789
rs1131690789
RBM10
1.000 X 47181316 frameshift variant AG/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 0
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: rs1553878198
rs1553878198
RBPJ
1.000 4 26406245 missense variant C/G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 0
dbSNP: rs1555605893
rs1555605893
SMARCE1
17 40637502 missense variant T/C snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 0
dbSNP: rs1555918056
rs1555918056
BCOR
X 40072918 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 0
dbSNP: rs1557189252
rs1557189252
FGD1
1.000 X 54465532 missense variant G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 0
dbSNP: rs1563183469
rs1563183469
AUTS2
0.925 0.120 7 70766245 missense variant A/C snv
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: rs750803248
rs750803248
CDH23
10 71646592 frameshift variant -/G delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 2 2001 2001
dbSNP: rs866435331
rs866435331
CDH23 ; C10orf105
10 71712685 stop gained C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 2 2001 2001
dbSNP: rs866395428
rs866395428
LCA5
1.000 0.040 6 79493633 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 4 2000 2007
dbSNP: rs267607387
rs267607387
KRT12 ; LOC105371777
1.000 0.080 17 40866802 missense variant T/C snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 2 1997 2008
dbSNP: rs1553284965
rs1553284965
RPL5 ; DIPK1A
1 92833459 splice donor variant G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 1 2008 2008
dbSNP: rs111033178
rs111033178
MYO7A
0.851 0.200 11 77190108 missense variant G/A snv 7.5E-05 5.6E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 13 1995 2011
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: rs797044915
rs797044915
COL11A2
1.000 6 33176015 splice donor variant C/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 17 1975 2012
dbSNP: rs267606653
rs267606653
ALX4
0.925 11 44267607 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 6 2000 2012
dbSNP: rs764358419
rs764358419
CHMP1A
1.000 16 89649495 splice region variant G/A;T snv 1.6E-05; 1.2E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 3 2001 2012
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: rs1555202806
rs1555202806
BBS10
1.000 0.120 12 76348313 frameshift variant AACGCCGC/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 17 1999 2013
dbSNP: rs1331331095
rs1331331095
DHCR7
0.925 0.080 11 71435394 missense variant A/C;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 16 1994 2013
dbSNP: rs138659167
rs138659167
DHCR7
0.807 0.320 11 71435840 splice acceptor variant C/A;G snv 5.6E-05; 3.9E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 16 1994 2013
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: rs1554189042
rs1554189042
NSD1
1.000 5 177210101 stop gained -/AG ins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 9 2002 2013