TBC1D23, TBC1 domain family member 23, 55773

N. diseases: 33; N. variants: 4
Disease: Pontoneocerebellar hypoplasia ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1553730872
rs1553730872 		0.925 3 100310462 frameshift variant TG/- delins
CUI: C1261175
Disease: Pontoneocerebellar hypoplasia
Pontoneocerebellar hypoplasia 		0.700 1.000 1 2017 2017
dbSNP: rs1553730885
rs1553730885 		0.925 3 100310515 frameshift variant T/AA delins
CUI: C1261175
Disease: Pontoneocerebellar hypoplasia
Pontoneocerebellar hypoplasia 		0.700 1.000 1 2017 2017
dbSNP: rs1553731605
rs1553731605 		0.925 3 100316189 splice donor variant T/A;G snv
CUI: C1261175
Disease: Pontoneocerebellar hypoplasia
Pontoneocerebellar hypoplasia 		0.700 1.000 1 2017 2017