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: rs137852832
rs137852832
CEP290
0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.710 1.000 12 2006 2018
dbSNP: rs121918198
rs121918198
RPGRIP1L
0.882 0.320 16 53652844 missense variant T/G snv 6.4E-05 3.5E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.710 0.857 7 2007 2015
dbSNP: rs775883520
rs775883520
TMEM67
0.851 0.240 8 93780603 missense variant A/G snv 8.0E-06 7.0E-06
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.710 1.000 2 2015 2017
dbSNP: rs201502401
rs201502401
CC2D2A
0.882 0.320 4 15599699 missense variant A/T snv 2.0E-04 2.0E-04
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 7 2009 2015
dbSNP: rs201893408
rs201893408
TMEM67
0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 7 2009 2015
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: rs386834048
rs386834048
MKS1
0.827 0.320 17 58216088 splice region variant C/T snv 1.3E-04 1.3E-04
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 6 2007 2017
dbSNP: rs386834180
rs386834180
TMEM67
0.776 0.360 8 93781725 missense variant T/C snv 2.0E-05 4.2E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 6 2007 2016
dbSNP: rs386834202
rs386834202
TMEM67
0.851 0.320 8 93765574 frameshift variant AG/- del 4.0E-06; 1.9E-04 5.6E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 6 2009 2017
dbSNP: rs863225235
rs863225235
TMEM67
0.790 0.360 8 93782444 missense variant C/A snv 4.0E-06 7.0E-06
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 6 2002 2016
dbSNP: rs137853108
rs137853108
TMEM67
0.851 0.320 8 93765617 stop gained A/T snv 1.8E-04 2.6E-04
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 5 2007 2015
dbSNP: rs201108965
rs201108965
TMEM216
0.851 0.320 11 61393965 missense variant G/A;T snv 8.0E-06; 1.7E-04
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 5 2010 2016
dbSNP: rs62638179
rs62638179
CEP290
0.882 0.200 12 88083077 stop gained C/A snv 3.6E-05 6.3E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 5 2006 2017
dbSNP: rs62640570
rs62640570
CEP290
0.827 0.280 12 88093904 frameshift variant T/-;TT delins 1.7E-05 9.1E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 5 2006 2016
dbSNP: rs764309755
rs764309755
CEP290
0.882 0.200 12 88083080 frameshift variant TT/- delins 2.8E-05 2.8E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 5 2007 2016
dbSNP: rs965522059
rs965522059
CEP290
0.776 0.280 12 88125370 splice acceptor variant C/T snv 1.5E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 5 2006 2011
dbSNP: rs11230683
rs11230683
TMEM216
0.882 0.320 11 61397797 stop gained C/A;G;T snv 2.8E-03; 4.0E-06; 8.0E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 4 2010 2017
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: rs370880399
rs370880399
CC2D2A
0.827 0.360 4 15563395 stop gained C/T snv 1.0E-04 1.0E-04
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 4 2008 2015
dbSNP: rs534542684
rs534542684
KIAA0586
0.827 0.240 14 58432439 frameshift variant G/- del 3.1E-03 3.4E-03
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 4 2015 2015
dbSNP: rs747835249
rs747835249
CEP290
0.882 0.200 12 88114418 splice donor variant CA/- delins 2.0E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 4 2006 2013
dbSNP: rs756302731
rs756302731
CEP290
0.851 0.240 12 88083076 frameshift variant CT/- delins 7.1E-06
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 4 2007 2016
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: rs1192112844
rs1192112844
CEP290
0.882 0.200 12 88118744 splice acceptor variant C/A;T snv 4.2E-06
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 3 2006 2010
dbSNP: rs121918204
rs121918204
RPGRIP1L
0.827 0.360 16 53652637 stop gained G/A snv 6.4E-05 2.1E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 3 2007 2015