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: rs1034855385
rs1034855385
VPS13B
1.000 0.320 8 99442636 splice donor variant G/A;T snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057516245
rs1057516245
VPS13B
1.000 0.320 8 99868333 frameshift variant A/- delins
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057516274
rs1057516274
VPS13B
1.000 0.320 8 99121318 frameshift variant AC/G delins
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057516276
rs1057516276
VPS13B
1.000 0.320 8 99820116 frameshift variant T/- delins
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057516284
rs1057516284
VPS13B
1.000 0.320 8 99870863 frameshift variant CAAA/TGT delins
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057516287
rs1057516287
VPS13B
1.000 0.320 8 99699821 stop gained C/T snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057516302
rs1057516302
VPS13B
1.000 0.320 8 99720515 frameshift variant C/- delins
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057516324
rs1057516324
VPS13B
1.000 0.320 8 99121240 frameshift variant A/- del
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057516331
rs1057516331
VPS13B
1.000 0.320 8 99699777 stop gained G/A snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057516422
rs1057516422
VPS13B
1.000 0.320 8 99096396 stop gained C/T snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057516437
rs1057516437
VPS13B
1.000 0.320 8 99853495 stop gained T/G snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057516484
rs1057516484
VPS13B
1.000 0.320 8 99818485 stop gained G/A;C snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057516489
rs1057516489
VPS13B
1.000 0.320 8 99699797 stop gained C/T snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057516494
rs1057516494
VPS13B
1.000 0.320 8 99717186 stop gained C/A snv
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: rs1057516532
rs1057516532
VPS13B
1.000 0.320 8 99170098 frameshift variant T/- del
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057516538
rs1057516538
VPS13B
1.000 0.320 8 99821307 frameshift variant T/- delins
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057516558
rs1057516558
VPS13B
1.000 0.320 8 99820081 stop gained C/T snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057516559
rs1057516559
VPS13B
1.000 0.320 8 99766796 stop gained G/A snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057516568
rs1057516568
VPS13B
1.000 0.320 8 99835625 frameshift variant C/- delins
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057516614
rs1057516614
VPS13B
1.000 0.320 8 99835676 frameshift variant CC/- del
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057516651
rs1057516651
VPS13B
1.000 0.320 8 99871527 frameshift variant C/- del
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057516653
rs1057516653
VPS13B
1.000 0.320 8 99501716 frameshift variant -/C delins
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057516660
rs1057516660
VPS13B
1.000 0.320 8 99766903 stop gained A/C;T snv 4.0E-06
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0
dbSNP: rs1057516663
rs1057516663
VPS13B
1.000 0.320 8 99717371 stop gained C/T snv
CUI: C0265223
Disease: Cohen syndrome
Cohen syndrome 		0.700 0