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: rs1554377262
rs1554377262
MCM7 ; AP4M1
1.000 0.080 7 100101774 splice donor variant T/G snv
CUI: C2752008
Disease: Spastic Paraplegia-50, Autosomal Recessive
Spastic Paraplegia-50, Autosomal Recessive 		0.700 0
dbSNP: rs879253809
rs879253809
PCCA
1.000 0.080 13 100102911 frameshift variant TA/- del
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.700 1.000 1 2016 2016
dbSNP: rs879253812
rs879253812
PCCA
1.000 0.080 13 100102956 frameshift variant A/- delins
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.700 1.000 1 2016 2016
dbSNP: rs1555342593
rs1555342593
PCCA
1.000 0.080 13 100102962 splice donor variant T/C snv
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.700 0
dbSNP: rs1554380093
rs1554380093
AP4M1
7 100105098 missense variant G/A snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 11 2009 2015
dbSNP: rs780030221
rs780030221
AP4M1
1.000 0.080 7 100105314 stop gained C/T snv 8.0E-06
CUI: C2752008
Disease: Spastic Paraplegia-50, Autosomal Recessive
Spastic Paraplegia-50, Autosomal Recessive 		0.700 0
dbSNP: rs776788025
rs776788025
AP4M1
1.000 0.080 7 100105450 frameshift variant TG/- delins 1.2E-05 7.0E-06
CUI: C2752008
Disease: Spastic Paraplegia-50, Autosomal Recessive
Spastic Paraplegia-50, Autosomal Recessive 		0.700 0
dbSNP: rs369459721
rs369459721
AP4M1
1.000 0.080 7 100105526 stop gained C/G;T snv 4.0E-05
CUI: C2752008
Disease: Spastic Paraplegia-50, Autosomal Recessive
Spastic Paraplegia-50, Autosomal Recessive 		0.700 0
dbSNP: rs730882249
rs730882249
AP4M1
0.882 0.120 7 100105981 stop gained C/T snv 4.0E-06
CUI: C4551584
Disease: Brain atrophy
Brain atrophy 		0.700 0
dbSNP: rs730882249
rs730882249
AP4M1
0.882 0.120 7 100105981 stop gained C/T snv 4.0E-06
CUI: C4025616
Disease: CNS hypomyelination
CNS hypomyelination 		0.700 0
dbSNP: rs730882249
rs730882249
AP4M1
0.882 0.120 7 100105981 stop gained C/T snv 4.0E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs730882249
rs730882249
AP4M1
0.882 0.120 7 100105981 stop gained C/T snv 4.0E-06
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.700 0
dbSNP: rs730882249
rs730882249
AP4M1
0.882 0.120 7 100105981 stop gained C/T snv 4.0E-06
CUI: C2752008
Disease: Spastic Paraplegia-50, Autosomal Recessive
Spastic Paraplegia-50, Autosomal Recessive 		0.700 0
dbSNP: rs730882249
rs730882249
AP4M1
0.882 0.120 7 100105981 stop gained C/T snv 4.0E-06
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.700 0
dbSNP: rs146262009
rs146262009
AP4M1
1.000 0.080 7 100106278 stop gained C/G;T snv 4.0E-06; 4.4E-05
CUI: C2752008
Disease: Spastic Paraplegia-50, Autosomal Recessive
Spastic Paraplegia-50, Autosomal Recessive 		0.700 0
dbSNP: rs760907496
rs760907496
TAF6 ; AP4M1
1.000 0.080 7 100106745 missense variant T/C snv 4.0E-06
CUI: C2752008
Disease: Spastic Paraplegia-50, Autosomal Recessive
Spastic Paraplegia-50, Autosomal Recessive 		0.700 0
dbSNP: rs1193888919
rs1193888919
SASS6
1.000 1 100107513 frameshift variant -/T delins 4.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 4 2011 2014
dbSNP: rs879253807
rs879253807
PCCA
1.000 0.080 13 100111840 splice acceptor variant G/A snv
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.700 1.000 1 2016 2016
dbSNP: rs141371306
rs141371306
PCCA
1.000 0.080 13 100111886 missense variant C/T snv 2.0E-05 5.6E-05
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.800 1.000 7 1999 2014
dbSNP: rs972937270
rs972937270
PCCA
1.000 0.080 13 100111889 splice donor variant G/C snv 8.0E-06 1.4E-05
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.700 1.000 4 2006 2015
dbSNP: rs879253801
rs879253801
PCCA
1.000 0.080 13 100112045 missense variant A/G snv
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.700 1.000 1 2016 2016
dbSNP: rs374993554
rs374993554
TAF6
0.925 7 100113899 missense variant A/G;T snv 3.2E-05
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs374993554
rs374993554
TAF6
0.925 7 100113899 missense variant A/G;T snv 3.2E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs374993554
rs374993554
TAF6
0.925 7 100113899 missense variant A/G;T snv 3.2E-05
CUI: C4310702
Disease: ALAZAMI-YUAN SYNDROME
ALAZAMI-YUAN SYNDROME 		0.800 1.000 0 2015 2015
dbSNP: rs727503778
rs727503778
TAF6
0.925 0.080 7 100114074 missense variant G/A snv
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		0.700 0