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: rs386834043
rs386834043
MKS1
0.851 0.320 17 58206553 splice region variant ATGCCATTGGGACAGCCTCAGGTTTCTGC/- delins 1.3E-03
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 6 2006 2016
dbSNP: rs281865192
rs281865192
CEP290
0.742 0.280 12 88101183 intron variant T/C snv 2.8E-04
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 4 2006 2012
dbSNP: rs1060499781
rs1060499781
CEP290
0.851 0.240 12 88058846 splice region variant -/CC delins
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 3 2006 2010
dbSNP: rs1569102786
rs1569102786
OFD1
1.000 0.160 X 13736679 splice donor variant G/T snv
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 3 2006 2016
dbSNP: rs727503855
rs727503855
CEP290
0.807 0.240 12 88118528 frameshift variant TT/-;T;TTT delins 7.1E-06
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 3 2015 2016
dbSNP: rs1170451277
rs1170451277
CEP290
0.776 0.280 12 88120207 stop gained G/A snv 1.4E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 2 2011 2012
dbSNP: rs1213286417
rs1213286417
CEP290
0.882 0.200 12 88089033 frameshift variant T/- delins 2.8E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 2 2007 2018
dbSNP: rs386833751
rs386833751
CC2D2A
0.851 0.320 4 15567676 splice acceptor variant G/- delins
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 2 2008 2012
dbSNP: rs386833759
rs386833759
CC2D2A
0.851 0.320 4 15580171 splice region variant AGTA/- delins 7.0E-06
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 2 2009 2015
dbSNP: rs386833760
rs386833760
CC2D2A
0.790 0.360 4 15587929 splice donor variant G/- delins 1.9E-04
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 2 2009 2015
dbSNP: rs797044945
rs797044945
OFD1
1.000 0.160 X 13768080 frameshift variant TAAAA/- delins
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 2 2013 2015
dbSNP: rs1114167302
rs1114167302
MKS1
0.925 0.320 17 58216687 missense variant C/A snv
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2016 2016
dbSNP: rs1554972547
rs1554972547
TMEM216
0.882 0.320 11 61393883 splice acceptor variant G/A snv
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2010 2010
dbSNP: rs1555225566
rs1555225566
CEP290
0.882 0.200 12 88129718 frameshift variant T/- delins
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2013 2013
dbSNP: rs1555531363
rs1555531363
KIAA0753
0.925 0.240 17 6620832 frameshift variant G/- delins
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2017 2017
dbSNP: rs1555600644
rs1555600644
MKS1
1.000 0.160 17 58216280 intron variant ATTATAATACATCAAACTTTTGCTTCTGTAACTGTTTAATCAAATCAGTTCTACAGAACTGATGCTATCTGACATGTTTTCATAACCAACACTAAACTAATGAATGGCAGGGGAACCAAGAACATTAGAGCTAAAAGGAACCA/- del
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2015 2015
dbSNP: rs1564430716
rs1564430716
INPP5E
1.000 0.160 9 136429766 stop gained A/C snv
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2009 2009
dbSNP: rs1569128307
rs1569128307
OFD1
1.000 0.160 X 13749512 frameshift variant AA/- delins
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2014 2014
dbSNP: rs312262845
rs312262845
OFD1
0.925 0.200 X 13746827 frameshift variant AA/-;A;AAA delins
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2008 2008
dbSNP: rs386834185
rs386834185
TMEM67
0.882 0.320 8 93787843 splice acceptor variant G/C;T snv
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2010 2010
dbSNP: rs587783017
rs587783017
CEP290
0.851 0.200 12 88055667 frameshift variant T/-;TT delins
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2015 2015
dbSNP: rs769705065
rs769705065
CLUAP1
0.882 0.160 16 3520011 stop gained C/T snv 7.0E-06
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2017 2017
dbSNP: rs797045437
rs797045437
CC2D2A
0.882 0.320 4 15597432 frameshift variant GACA/- delins
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2016 2016
dbSNP: rs863225150
rs863225150
TGFB1 ; B9D2
0.925 0.160 19 41355008 missense variant G/A snv
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2015 2015
dbSNP: rs863225151
rs863225151
C2CD3
1.000 0.160 11 74074252 splice donor variant C/A snv
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2015 2015