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: 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: 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: rs386833760
rs386833760
CC2D2A
0.790 0.360 4 15587929 splice donor variant G/- delins 1.9E-04
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		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: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs386833760
rs386833760
CC2D2A
0.790 0.360 4 15587929 splice donor variant G/- delins 1.9E-04
CUI: C0220697
Disease: POLYDACTYLY, POSTAXIAL
POLYDACTYLY, POSTAXIAL 		0.700 0
dbSNP: rs386833760
rs386833760
CC2D2A
0.790 0.360 4 15587929 splice donor variant G/- delins 1.9E-04
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		0.700 0
dbSNP: rs386833760
rs386833760
CC2D2A
0.790 0.360 4 15587929 splice donor variant G/- delins 1.9E-04
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.700 0
dbSNP: rs386833760
rs386833760
CC2D2A
0.790 0.360 4 15587929 splice donor variant G/- delins 1.9E-04
CUI: C2676790
Disease: MECKEL SYNDROME, TYPE 6 (disorder)
MECKEL SYNDROME, TYPE 6 (disorder) 		0.700 0
dbSNP: rs386833760
rs386833760
CC2D2A
0.790 0.360 4 15587929 splice donor variant G/- delins 1.9E-04
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs386833760
rs386833760
CC2D2A
0.790 0.360 4 15587929 splice donor variant G/- delins 1.9E-04
CUI: C4551722
Disease: Encephalocele
Encephalocele 		0.700 0
dbSNP: rs386833760
rs386833760
CC2D2A
0.790 0.360 4 15587929 splice donor variant G/- delins 1.9E-04
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		0.700 0
dbSNP: rs386833760
rs386833760
CC2D2A
0.790 0.360 4 15587929 splice donor variant G/- delins 1.9E-04
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		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
dbSNP: rs370880399
rs370880399
CC2D2A
0.827 0.360 4 15563395 stop gained C/T snv 1.0E-04 1.0E-04
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.700 1.000 4 2008 2015
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: rs370880399
rs370880399
CC2D2A
0.827 0.360 4 15563395 stop gained C/T snv 1.0E-04 1.0E-04
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs781252161
rs781252161
CC2D2A
0.827 0.360 4 15533284 stop gained C/T snv 1.8E-05 7.0E-06
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs370880399
rs370880399
CC2D2A
0.827 0.360 4 15563395 stop gained C/T snv 1.0E-04 1.0E-04
CUI: C2676790
Disease: MECKEL SYNDROME, TYPE 6 (disorder)
MECKEL SYNDROME, TYPE 6 (disorder) 		0.700 0
dbSNP: rs370880399
rs370880399
CC2D2A
0.827 0.360 4 15563395 stop gained C/T snv 1.0E-04 1.0E-04
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.700 0
dbSNP: rs781252161
rs781252161
CC2D2A
0.827 0.360 4 15533284 stop gained C/T snv 1.8E-05 7.0E-06
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.700 0