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: rs587777620
rs587777620
CCND2
1.000 12 4299978 missense variant C/A;T snv 4.0E-06
CUI: C4014742
Disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 		0.800 1.000 1 2014 2014
dbSNP: rs587777618
rs587777618
CCND2
0.925 12 4299977 missense variant A/G snv
CUI: C4014742
Disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 		0.800 1.000 0 2014 2014
dbSNP: rs587777622
rs587777622
CCND2
1.000 12 4299981 missense variant C/G;T snv
CUI: C4014742
Disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 		0.800 1.000 0 2014 2014
dbSNP: rs777786993
rs777786993
CCND2
1.000 12 4299990 missense variant T/C;G snv
CUI: C4014742
Disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 		0.800 1.000 0 2014 2014
dbSNP: rs587777618
rs587777618
CCND2
0.925 12 4299977 missense variant A/G snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 13 2004 2018
dbSNP: rs587777618
rs587777618
CCND2
0.925 12 4299977 missense variant A/G snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 13 2004 2018
dbSNP: rs587777618
rs587777618
CCND2
0.925 12 4299977 missense variant A/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 13 2004 2018
dbSNP: rs587777621
rs587777621
CCND2
1.000 12 4299980 missense variant C/G;T snv 7.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 13 2004 2018
dbSNP: rs587777619
rs587777619
CCND2
1.000 12 4299947 stop gained A/T snv
CUI: C4014742
Disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 		0.700 0
dbSNP: rs587777621
rs587777621
CCND2
1.000 12 4299980 missense variant C/G;T snv 7.0E-06
CUI: C4014742
Disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 		0.700 0