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: rs762998472
rs762998472
CC2D2A
1.000 0.320 4 15527560 frameshift variant -/GGCATGTTTTGGC;GGCATGTTTTGGCAGCGA ins 4.0E-06
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs863225171
rs863225171
CC2D2A
1.000 0.320 4 15574297 frameshift variant -/GGTT delins
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs386833757
rs386833757
CC2D2A
0.925 0.320 4 15579967 frameshift variant -/T delins
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs386833757
rs386833757
CC2D2A
0.925 0.320 4 15579967 frameshift variant -/T delins
CUI: C2676790
Disease: MECKEL SYNDROME, TYPE 6 (disorder)
MECKEL SYNDROME, TYPE 6 (disorder) 		0.700 0
dbSNP: rs1392635342
rs1392635342
CC2D2A
1.000 0.320 4 15511290 frameshift variant -/TA delins 4.3E-06
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.700 0
dbSNP: rs386833754
rs386833754
CC2D2A
1.000 0.200 4 15570424 frameshift variant -/TG ins
CUI: C2676790
Disease: MECKEL SYNDROME, TYPE 6 (disorder)
MECKEL SYNDROME, TYPE 6 (disorder) 		0.700 0
dbSNP: rs863225179
rs863225179
CC2D2A
1.000 0.320 4 15597460 missense variant A/C snv
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs1553845569
rs1553845569
CC2D2A
4 15599527 splice acceptor variant A/G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 6 2009 2017
dbSNP: rs863225174
rs863225174
CC2D2A
1.000 0.320 4 15601303 missense variant A/G snv 7.0E-06
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.700 1.000 1 2015 2015
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: rs201502401
rs201502401
CC2D2A
0.882 0.320 4 15599699 missense variant A/T snv 2.0E-04 2.0E-04
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.700 1.000 6 2009 2015
dbSNP: rs201502401
rs201502401
CC2D2A
0.882 0.320 4 15599699 missense variant A/T snv 2.0E-04 2.0E-04
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.800 1.000 1 2008 2015
dbSNP: rs773881370
rs773881370
CC2D2A
1.000 0.320 4 15560607 missense variant A/T snv 2.4E-05 7.0E-06
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs863225177
rs863225177
CC2D2A
1.000 0.320 4 15533228 inframe deletion AGA/- delins
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.700 1.000 1 2015 2015
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: rs386833759
rs386833759
CC2D2A
0.851 0.320 4 15580171 splice region variant AGTA/- delins 7.0E-06
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.700 1.000 2 2009 2015
dbSNP: rs386833759
rs386833759
CC2D2A
0.851 0.320 4 15580171 splice region variant AGTA/- delins 7.0E-06
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs386833759
rs386833759
CC2D2A
0.851 0.320 4 15580171 splice region variant AGTA/- delins 7.0E-06
CUI: C2676790
Disease: MECKEL SYNDROME, TYPE 6 (disorder)
MECKEL SYNDROME, TYPE 6 (disorder) 		0.700 0
dbSNP: rs386833753
rs386833753
CC2D2A
1.000 0.200 4 15569290 splice region variant C/A snv
CUI: C2676790
Disease: MECKEL SYNDROME, TYPE 6 (disorder)
MECKEL SYNDROME, TYPE 6 (disorder) 		0.700 0
dbSNP: rs386833750
rs386833750
CC2D2A
0.807 0.360 4 15563485 stop gained C/A;G;T snv 2.0E-05; 2.0E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 2 2009 2010
dbSNP: rs386833750
rs386833750
CC2D2A
0.807 0.360 4 15563485 stop gained C/A;G;T snv 2.0E-05; 2.0E-05
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.700 1.000 2 2009 2010
dbSNP: rs386833750
rs386833750
CC2D2A
0.807 0.360 4 15563485 stop gained C/A;G;T snv 2.0E-05; 2.0E-05
CUI: C3280898
Disease: JOUBERT SYNDROME 9/15, DIGENIC
JOUBERT SYNDROME 9/15, DIGENIC 		0.700 0
dbSNP: rs386833750
rs386833750
CC2D2A
0.807 0.360 4 15563485 stop gained C/A;G;T snv 2.0E-05; 2.0E-05
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.700 0
dbSNP: rs386833750
rs386833750
CC2D2A
0.807 0.360 4 15563485 stop gained C/A;G;T snv 2.0E-05; 2.0E-05
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.700 0
dbSNP: rs386833750
rs386833750
CC2D2A
0.807 0.360 4 15563485 stop gained C/A;G;T snv 2.0E-05; 2.0E-05
CUI: C2676790
Disease: MECKEL SYNDROME, TYPE 6 (disorder)
MECKEL SYNDROME, TYPE 6 (disorder) 		0.700 0