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: rs1554581821
rs1554581821
VPS13B
1.000 0.320 8 99854159 inframe deletion TCT/- delins
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs180177362
rs180177362
VPS13B
1.000 0.320 8 99577552 inframe deletion AGTGTGGCTCAAGTTCAA/- delins
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs386834088
rs386834088
VPS13B
1.000 0.320 8 99511279 inframe deletion CTT/- delins
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057516495
rs1057516495
VPS13B
1.000 0.320 8 99720342 splice region variant GTCTTCTGGGGTCAAG/- delins
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1554612610
rs1554612610
VPS13B
1.000 0.320 8 99096305 splice region variant A/G snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs386834119
rs386834119
VPS13B
1.000 0.320 8 99832368 splice acceptor variant G/A;C;T snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 1.000 4 2004 2014
dbSNP: rs1554566596
rs1554566596
VPS13B
1.000 0.320 8 99818712 splice acceptor variant G/T snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 1.000 3 2004 2010
dbSNP: rs1554588353
rs1554588353
VPS13B
1.000 0.320 8 99871446 splice acceptor variant A/G snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 1.000 3 2004 2010
dbSNP: rs1554665974
rs1554665974
VPS13B
1.000 0.320 8 99192874 splice acceptor variant A/G snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 1.000 1 2006 2006
dbSNP: rs386834120
rs386834120
VPS13B
1.000 0.320 8 99835195 splice acceptor variant A/C;G snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 1.000 1 2004 2004
dbSNP: rs1057516694
rs1057516694
VPS13B
1.000 0.320 8 99661353 splice acceptor variant G/T snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057516807
rs1057516807
VPS13B
1.000 0.320 8 99823828 splice acceptor variant AGT/- delins
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057516841
rs1057516841
VPS13B
1.000 0.320 8 99699519 splice acceptor variant TATAGC/- delins
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057517441
rs1057517441
VPS13B
1.000 0.320 8 99868288 splice acceptor variant G/A snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1378196300
rs1378196300
VPS13B
1.000 0.320 8 99784313 splice acceptor variant A/C snv 7.0E-06
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1456528242
rs1456528242
VPS13B
1.000 0.320 8 99431535 splice acceptor variant A/C snv 8.0E-06
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1554565484
rs1554565484
VPS13B
1.000 0.320 8 99817539 splice acceptor variant G/C snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1554569259
rs1554569259
VPS13B
1.000 0.320 8 99821292 splice acceptor variant A/G snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1554579522
rs1554579522
VPS13B
1.000 0.320 8 99848775 splice acceptor variant GTTG/- delins
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1554581156
rs1554581156
VPS13B
1.000 0.320 8 99853449 splice acceptor variant A/G snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1554634091
rs1554634091
VPS13B
1.000 0.320 8 99135014 splice acceptor variant G/C snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1554706114
rs1554706114
VPS13B
1.000 0.320 8 99274196 splice acceptor variant A/G snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1554843814
rs1554843814
VPS13B
1.000 0.320 8 99556448 splice acceptor variant A/T snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1554852945
rs1554852945
VPS13B
1.000 0.320 8 99575657 splice acceptor variant G/C snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs372327659
rs372327659
COX6C ; VPS13B
1.000 0.320 8 99875417 splice acceptor variant G/A snv 8.0E-06 7.0E-06
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0