Disease: Classical Lissencephaly ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057520515
rs1057520515 		1.000 0.080 17 2680321 splice donor variant G/A snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs113994200
rs113994200 		1.000 0.080 17 2680206 frameshift variant G/-;GG delins
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs113994202
rs113994202 		1.000 0.080 17 2672645 intron variant T/C snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs113994203
rs113994203 		1.000 0.080 17 2676607 splice donor variant G/A snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs121434483
rs121434483 		1.000 0.080 17 2674205 stop gained C/T snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs121434489
rs121434489 		0.925 0.080 17 2638310 stop gained C/T snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1555526309
rs1555526309 		1.000 0.080 17 2666074 frameshift variant T/- delins
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1555526718
rs1555526718 		1.000 0.080 17 2670276 frameshift variant -/A delins
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1555526733
rs1555526733 		1.000 0.080 17 2670332 splice donor variant G/A snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1555527149
rs1555527149 		1.000 0.080 17 2674287 missense variant A/G snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1555527743
rs1555527743 		1.000 0.080 17 2680132 splice acceptor variant ACTGAGTCAAATAACTTTTTTGTTTTTAAGGTGGGTCATGATAACTGGGTACGTGGAGTT/- delins
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1567559851
rs1567559851 		1.000 0.080 17 2674240 stop gained G/A snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1567561137
rs1567561137 		1.000 0.080 17 2676592 splice donor variant CTTATGACCCTCGTAAGTTTGC/- delins
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs200390886
rs200390886 		1.000 0.080 17 2670266 missense variant G/A;C snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs369259961
rs369259961 		1.000 0.080 17 2665423 stop gained T/C;G snv 4.0E-06
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587784235
rs587784235 		1.000 0.080 17 2676611 splice region variant G/A snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587784236
rs587784236 		1.000 0.080 17 2680170 missense variant C/G;T snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587784237
rs587784237 		1.000 0.080 17 2680185 frameshift variant CGTGGAGT/- del
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587784238
rs587784238 		1.000 0.080 17 2680224 frameshift variant A/- del
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587784239
rs587784239 		1.000 0.080 17 2680225 missense variant G/A snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587784240
rs587784240 		1.000 0.080 17 2680261 frameshift variant A/- del
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587784241
rs587784241 		1.000 0.080 17 2680272 stop gained C/T snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587784242
rs587784242 		1.000 0.080 17 2680296 missense variant C/T snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587784243
rs587784243 		1.000 0.080 17 2680322 splice donor variant T/A snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587784244
rs587784244 		1.000 0.080 17 2680320 missense variant G/T snv
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0