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: rs368720062
rs368720062
CC2D2A
1.000 0.040 4 15596154 missense variant T/C snv 1.3E-05 7.0E-06
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.700 0
dbSNP: rs377177061
rs377177061
CC2D2A
1.000 0.040 4 15502879 stop gained C/G;T snv 4.1E-06; 2.9E-05
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.700 0
dbSNP: rs587779732
rs587779732
CC2D2A
1.000 0.040 4 15596177 missense variant C/A;G;T snv 3.2E-05
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.700 0
dbSNP: rs794729225
rs794729225
CC2D2A
1.000 0.160 4 15587843 inframe deletion GAA/- delins 4.0E-06 7.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 6 2009 2017
dbSNP: rs375278294
rs375278294
CC2D2A
1.000 0.160 4 15574207 stop gained C/A;T snv 2.0E-05; 1.3E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 0
dbSNP: rs794729225
rs794729225
CC2D2A
1.000 0.160 4 15587843 inframe deletion GAA/- delins 4.0E-06 7.0E-06
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		0.700 0
dbSNP: rs1553827236
rs1553827236
CC2D2A
0.882 0.200 4 15516757 splice donor variant G/A snv
CUI: C4551722
Disease: Encephalocele
Encephalocele 		0.700 0
dbSNP: rs1553827236
rs1553827236
CC2D2A
0.882 0.200 4 15516757 splice donor variant G/A snv
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		0.700 0
dbSNP: rs1553827236
rs1553827236
CC2D2A
0.882 0.200 4 15516757 splice donor variant G/A snv
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.700 0
dbSNP: rs1553827236
rs1553827236
CC2D2A
0.882 0.200 4 15516757 splice donor variant G/A snv
CUI: C0220697
Disease: POLYDACTYLY, POSTAXIAL
POLYDACTYLY, POSTAXIAL 		0.700 0
dbSNP: rs1553827236
rs1553827236
CC2D2A
0.882 0.200 4 15516757 splice donor variant G/A snv
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		0.700 0
dbSNP: rs1553827236
rs1553827236
CC2D2A
0.882 0.200 4 15516757 splice donor variant G/A snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1553827236
rs1553827236
CC2D2A
0.882 0.200 4 15516757 splice donor variant G/A snv
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		0.700 0
dbSNP: rs1553845300
rs1553845300
CC2D2A
1.000 0.200 4 15597452 stop gained G/T snv
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		0.700 0
dbSNP: rs386833745
rs386833745
CC2D2A
1.000 0.200 4 15527635 frameshift variant G/- delins
CUI: C2676790
Disease: MECKEL SYNDROME, TYPE 6 (disorder)
MECKEL SYNDROME, TYPE 6 (disorder) 		0.700 0
dbSNP: rs386833746
rs386833746
CC2D2A
1.000 0.200 4 15533263 missense variant T/A;G snv
CUI: C2676790
Disease: MECKEL SYNDROME, TYPE 6 (disorder)
MECKEL SYNDROME, TYPE 6 (disorder) 		0.700 0
dbSNP: rs386833747
rs386833747
CC2D2A
1.000 0.200 4 15553306 splice donor variant G/A;C snv 4.1E-06
CUI: C2676790
Disease: MECKEL SYNDROME, TYPE 6 (disorder)
MECKEL SYNDROME, TYPE 6 (disorder) 		0.700 0
dbSNP: rs386833748
rs386833748
CC2D2A
1.000 0.200 4 15557451 stop gained C/T snv 1.2E-05 7.0E-06
CUI: C2676790
Disease: MECKEL SYNDROME, TYPE 6 (disorder)
MECKEL SYNDROME, TYPE 6 (disorder) 		0.700 0
dbSNP: rs386833749
rs386833749
CC2D2A
1.000 0.200 4 15563423 frameshift variant G/- delins 4.2E-05
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: 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: rs386833756
rs386833756
CC2D2A
1.000 0.200 4 15570484 frameshift variant T/- delins
CUI: C2676790
Disease: MECKEL SYNDROME, TYPE 6 (disorder)
MECKEL SYNDROME, TYPE 6 (disorder) 		0.700 0
dbSNP: rs386833758
rs386833758
CC2D2A
1.000 0.200 4 15580089 missense variant T/A snv
CUI: C2676790
Disease: MECKEL SYNDROME, TYPE 6 (disorder)
MECKEL SYNDROME, TYPE 6 (disorder) 		0.700 0
dbSNP: rs386833762
rs386833762
CC2D2A
1.000 0.200 4 15597467 splice donor variant T/A;C snv 1.2E-05
CUI: C2676790
Disease: MECKEL SYNDROME, TYPE 6 (disorder)
MECKEL SYNDROME, TYPE 6 (disorder) 		0.700 0