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: rs1057516670
rs1057516670
VPS13B
1.000 0.320 8 99391647 stop gained -/ATCATATCAGGCCTCTGAA delins
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057516681
rs1057516681
VPS13B
1.000 0.320 8 99192883 stop gained A/T snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
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: rs1057516789
rs1057516789
VPS13B
1.000 0.320 8 99821480 frameshift variant A/- delins
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: rs1057516834
rs1057516834
VPS13B
1.000 0.320 8 99391694 frameshift variant AA/T delins
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057516840
rs1057516840
VPS13B
1.000 0.320 8 99721048 splice donor variant G/T snv
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: rs1057516845
rs1057516845
VPS13B
1.000 0.320 8 99820011 frameshift variant G/- del
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057516857
rs1057516857
VPS13B
1.000 0.320 8 99038567 splice donor variant G/A snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057516923
rs1057516923
VPS13B
1.000 0.320 8 99135734 splice donor variant G/A;T snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057516926
rs1057516926
VPS13B
1.000 0.320 8 99431557 frameshift variant C/- delins
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057516971
rs1057516971
VPS13B
1.000 0.320 8 99121279 frameshift variant C/- del
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057517029
rs1057517029
VPS13B ; VPS13B-DT
1.000 0.320 8 99013936 splice donor variant G/A snv 8.0E-06
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057517063
rs1057517063
VPS13B
1.000 0.320 8 99835739 splice donor variant G/A;T snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057517076
rs1057517076
VPS13B
1.000 0.320 8 99102962 frameshift variant AG/- delins
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057517137
rs1057517137
VPS13B
1.000 0.320 8 99854061 frameshift variant -/T delins
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057517168
rs1057517168
VPS13B
1.000 0.320 8 99832653 splice donor variant G/T snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057517177
rs1057517177
VPS13B
1.000 0.320 8 99142985 frameshift variant AACAAGAC/- delins
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057517202
rs1057517202
VPS13B
1.000 0.320 8 99861836 frameshift variant CACTGGATGA/- del
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057517236
rs1057517236
VPS13B
1.000 0.320 8 99818890 splice donor variant T/G snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057517255
rs1057517255
VPS13B
1.000 0.320 8 99275246 frameshift variant A/CC delins
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057517283
rs1057517283
VPS13B
1.000 0.320 8 99142991 frameshift variant G/- del
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057517295
rs1057517295
VPS13B
1.000 0.320 8 99096433 splice donor variant G/A;T snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057517318
rs1057517318
VPS13B
1.000 0.320 8 99717221 frameshift variant A/- delins
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0