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: rs76216585
rs76216585
POC1B
0.807 0.160 12 89492071 stop gained C/A;G;T snv 8.5E-06; 2.7E-04
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 1.000 3 2014 2014
dbSNP: rs1064795104
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 1.000 2 2013 2014
dbSNP: rs1064796738
rs1064796738
KIF11
1.000 0.240 10 92606655 stop gained C/T snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 1.000 2 2014 2014
dbSNP: rs1034395178
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 1.000 1 2018 2018
dbSNP: rs1057516034
rs1057516034
NIPBL
0.925 0.120 5 37052453 stop gained C/T snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 1.000 1 2016 2016
dbSNP: rs724159949
rs724159949
DYRK1A ; LOC105372797
0.827 0.240 21 37486563 stop gained C/T snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 1.000 1 2015 2015
dbSNP: rs777593389
rs777593389
VPS13B
1.000 0.320 8 99156693 stop gained C/T snv 4.0E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 1.000 1 2016 2016
dbSNP: rs797044519
rs797044519
DYRK1A
0.925 21 37478285 stop gained C/A;G;T snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 1.000 1 2015 2015
dbSNP: rs1010184002
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs119473033
rs119473033
SMARCAL1
0.827 0.320 2 216478216 stop gained G/T snv 8.0E-05 1.3E-04
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs120074160
rs120074160
SBDS
0.925 7 66994286 stop gained T/A snv 1.7E-04 1.0E-03
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1218912272
rs1218912272
FLG ; FLG-AS1
0.925 0.160 1 152314342 stop gained T/A snv 4.0E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs121912854
rs121912854
COL7A1
0.851 0.200 3 48592915 stop gained G/A snv 1.2E-05 7.0E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs122445099
rs122445099
ATRX
0.827 0.400 X 77520832 stop gained G/A snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1553538917
rs1553538917
SATB2
0.882 0.120 2 199272423 stop gained G/A snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1553632357
rs1553632357
CTNNB1
0.882 0.120 3 41236421 stop gained G/T snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1555740650
rs1555740650
PRR12
0.807 0.240 19 49596253 stop gained G/T snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs201785518
rs201785518
ANKLE2
1.000 12 132729818 stop gained G/A snv 5.6E-05 1.4E-05
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs267606826
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs367962377
rs367962377
MYCN
1.000 0.320 2 15945716 stop gained C/A;T snv 8.0E-06 2.1E-05
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs368313959
rs368313959
OTUD6B
0.851 0.080 8 91078383 stop gained C/T snv 1.6E-04 1.0E-04
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs374052333
rs374052333
UBA5 ; NPHP3-ACAD11
0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs386834061
rs386834061
VPS13B
0.925 0.360 8 99868312 stop gained C/T snv 2.1E-05
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs386834070
rs386834070
VPS13B
0.851 0.360 8 99134644 stop gained C/T snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs387907145
rs387907145
ROGDI
0.695 0.440 16 4800548 stop gained G/A snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0