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: rs587777602
rs587777602
ABHD12
0.882 0.160 20 25302260 missense variant G/C snv
CUI: C2675204
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.800 1.000 0 2010 2018
dbSNP: rs587777604
rs587777604
ABHD12
1.000 0.160 20 25317064 missense variant C/G;T snv 1.2E-05
CUI: C2675204
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.800 1.000 0 2010 2018
dbSNP: rs1555817157
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 1.000 1 2018 2018
dbSNP: rs1555817157
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.700 1.000 1 2018 2018
dbSNP: rs1555817157
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.700 1.000 1 2018 2018
dbSNP: rs1555817157
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 1.000 1 2018 2018
dbSNP: rs1555817157
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C0728829
Disease: Congenital pes cavus
Congenital pes cavus 		0.700 1.000 1 2018 2018
dbSNP: rs1555817157
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment 		0.700 1.000 1 2018 2018
dbSNP: rs1555817157
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C0235259
Disease: Subcapsular cataract
Subcapsular cataract 		0.700 1.000 1 2018 2018
dbSNP: rs1555817157
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		0.700 1.000 1 2018 2018
dbSNP: rs1555817157
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 1.000 1 2018 2018
dbSNP: rs1555817157
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.700 1.000 1 2018 2018
dbSNP: rs1555817157
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C2675204
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.700 1.000 1 2018 2018
dbSNP: rs1555817157
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		0.700 1.000 1 2018 2018
dbSNP: rs1555817157
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 1.000 1 2018 2018
dbSNP: rs1555817157
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		0.700 1.000 1 2018 2018
dbSNP: rs1555817157
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C0700078
Disease: Decreased tendon reflex
Decreased tendon reflex 		0.700 1.000 1 2018 2018
dbSNP: rs1555817157
rs1555817157
ABHD12
0.742 0.280 20 25339320 frameshift variant TCTTCCTCAGGCG/- del
CUI: C4551520
Disease: Intention tremor
Intention tremor 		0.700 1.000 1 2018 2018
dbSNP: rs758316679
rs758316679
ABHD12
20 25339350 stop gained G/A snv 2.0E-05 7.0E-06
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.700 1.000 1 2012 2012
dbSNP: rs1303044966
rs1303044966
ABHD12
0.882 0.160 20 25339294 stop gained G/A;C snv 4.0E-06
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		0.700 0
dbSNP: rs1303044966
rs1303044966
ABHD12
0.882 0.160 20 25339294 stop gained G/A;C snv 4.0E-06
CUI: C0086543
Disease: Cataract
Cataract 		0.700 0
dbSNP: rs1303044966
rs1303044966
ABHD12
0.882 0.160 20 25339294 stop gained G/A;C snv 4.0E-06
CUI: C2675204
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.700 0
dbSNP: rs1303044966
rs1303044966
ABHD12
0.882 0.160 20 25339294 stop gained G/A;C snv 4.0E-06
CUI: C1842138
Disease: Progressive hearing impairment
Progressive hearing impairment 		0.700 0
dbSNP: rs1555810299
rs1555810299
ABHD12
1.000 0.160 20 25302247 inframe deletion AATGTA/- delins
CUI: C2675204
Disease: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract 		0.700 0
dbSNP: rs1555811525
rs1555811525
ABHD12
20 25309577 splice acceptor variant T/C snv
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.700 0