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: rs1555564175
rs1555564175
EFTUD2
1.000 17 44853630 frameshift variant -/A delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 15 2006 2017
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: rs1553212626
rs1553212626
POGZ
1.000 1 151406151 frameshift variant -/A delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 13 1999 2017
dbSNP: rs1555902810
rs1555902810
RBFOX2
1.000 22 35781685 frameshift variant -/A delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 6 2005 2016
dbSNP: rs1462161137
rs1462161137
METTL23
1.000 17 76733042 frameshift variant -/A delins 7.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 2 2014 2014
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
dbSNP: rs1555904596
rs1555904596
ANOS1
1.000 X 8731936 frameshift variant -/AGCAGCCGCGC delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 7 1991 2014
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: rs746593718
rs746593718
TBCE ; B3GALNT2
1.000 1 235448437 stop gained -/AGTAA delins 2.0E-05 6.3E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 6 1991 2016
dbSNP: rs606231189
rs606231189
PDHA1 ; MAP3K15
0.925 0.040 X 19359619 frameshift variant -/ATCA delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 10 1995 2016
dbSNP: rs1555533842
rs1555533842
NF1
1.000 17 31330303 frameshift variant -/C delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 34 1967 2017
dbSNP: rs1557099144
rs1557099144
PHF8
1.000 X 53985131 frameshift variant -/C delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 7 2005 2014
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: 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: 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: rs797044919
rs797044919
CHD7
8 60845364 frameshift variant -/C delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 1 2015 2015
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: rs1554236054
rs1554236054
ARID1B
1.000 6 157201481 frameshift variant -/G delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 20 1984 2017
dbSNP: rs775499191
rs775499191
NMNAT2
1.000 1 183286706 frameshift variant -/G delins 4.0E-06; 4.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 13 2002 2016
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: rs1555545225
rs1555545225
MYO15A ; LOC105371566
17 18146034 frameshift variant -/G delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 6 1995 2016
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: 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: 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: rs797044884
rs797044884
CLTC ; PTRH2
0.925 17 59677123 frameshift variant -/GA delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 23 1976 2017