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: rs730882249
rs730882249
AP4M1
0.882 0.120 7 100105981 stop gained C/T snv 4.0E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1064796765
rs1064796765
DYNC1H1
0.763 0.240 14 102002950 missense variant G/A snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1057518961
rs1057518961
DYNC1H1
0.925 0.040 14 102012450 missense variant C/T snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1060499740
rs1060499740
CINP
14 102348559 stop lost A/C snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs606231450
rs606231450
BRF1
0.882 0.160 14 105226674 missense variant G/C;T snv 4.0E-06; 4.0E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs373957300
rs373957300
BRF1
0.882 0.160 14 105228832 missense variant G/A snv 1.6E-05 2.8E-05
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs606231416
rs606231416
BRF1
0.882 0.160 14 105241282 missense variant G/A snv 8.1E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs370270828
rs370270828
BRF1
0.882 0.160 14 105241292 missense variant G/A snv 8.0E-06 2.8E-05
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1569508922
rs1569508922
ALG13
0.882 0.160 X 111681268 missense variant T/A snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs369634007
rs369634007
TMEM87B
0.882 0.080 2 112098688 missense variant A/G snv 1.6E-05 2.1E-05
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 1.000 1 2016 2016
dbSNP: rs397507520
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs397507531
rs397507531
PTPN11
0.752 0.320 12 112473040 missense variant T/C;G snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs587779388
rs587779388
AP4B1 ; AP4B1-AS1
1.000 1 113898755 frameshift variant GT/- delins 1.4E-04 1.5E-04
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 1.000 3 2011 2012
dbSNP: rs869312707
rs869312707
MED13L
0.925 0.160 12 115963422 missense variant G/A snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1563686762
rs1563686762
RAD21 ; UTP23
0.790 0.280 8 116847620 inframe deletion GTT/- delins
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 1.000 1 2019 2019
dbSNP: rs34757931
rs34757931
VPS11
0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs879255522
rs879255522
CIT
0.925 0.120 12 119822819 splice donor variant C/T snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs879255524
rs879255524
CIT
1.000 0.120 12 119850217 missense variant G/C snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs879255523
rs879255523
CIT
1.000 0.120 12 119857525 stop gained G/A snv 7.0E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs119103263
rs119103263
MFN2
0.827 0.240 1 11992659 missense variant C/T snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs782304760
rs782304760
KDM2B
0.925 0.080 12 121442391 missense variant C/T snv 2.8E-05 7.0E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs559979281
rs559979281
CLASP1 ; RNU4ATAC ; LOC107985942
0.742 0.440 2 121530892 non coding transcript exon variant C/G;T snv 7.7E-06; 2.3E-05; 3.5E-04
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs863225422
rs863225422
CLASP1 ; RNU4ATAC ; LOC107985942
0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs796052243
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1555155556
rs1555155556
BORCS5
0.851 0.120 12 12435627 splice acceptor variant G/T snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0