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: rs1131692272
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1131692272
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1131692272
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs1131692272
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1131692272
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.700 0
dbSNP: rs1131692272
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs1131692272
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1131692272
rs1131692272
AFF3
0.851 0.240 2 100006808 missense variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1565115957
rs1565115957
SBF2
1.000 0.080 11 10000952 frameshift variant CAATAATGAAAGGCGTTGGGGAACTTAGAACTTCCAGTAGCTGAGCCGGGAGAATAGGGATATAAGGATA/- del
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		0.700 0
dbSNP: rs398122524
rs398122524
SLC35A3
1.000 1 100011413 stop gained C/T snv
CUI: C3809910
Disease: ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES
ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES 		0.700 0
dbSNP: rs866803539
rs866803539
SLC35A3
1.000 1 100015346 frameshift variant -/A delins 8.0E-06 4.2E-05
CUI: C3809910
Disease: ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES
ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES 		0.700 0
dbSNP: rs141952252
rs141952252
SLC35A3
1.000 1 100017814 missense variant A/G snv 6.2E-05 5.6E-05
CUI: C3809910
Disease: ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES
ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES 		0.700 1.000 1 2013 2013
dbSNP: rs387906291
rs387906291
ADAMTS17
1.000 0.160 15 100048989 splice acceptor variant -/C delins
CUI: C2750787
Disease: Weill-Marchesani-Like Syndrome
Weill-Marchesani-Like Syndrome 		0.700 0
dbSNP: rs1553916890
rs1553916890
IDUA
1.000 0.120 4 1000611 splice acceptor variant G/A snv
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		0.700 0
dbSNP: rs780615798
rs780615798
IDUA
1.000 0.120 4 1000698 splice donor variant G/C snv 4.0E-06
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		0.700 1.000 1 2015 2015
dbSNP: rs777295041
rs777295041
IDUA
0.925 0.120 4 1000880 splice acceptor variant A/G snv 3.6E-05 1.4E-05
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		0.700 1.000 7 1994 2017
dbSNP: rs777295041
rs777295041
IDUA
0.925 0.120 4 1000880 splice acceptor variant A/G snv 3.6E-05 1.4E-05
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		0.700 1.000 1 2013 2013
dbSNP: rs1560545883
rs1560545883
IDUA
1.000 0.120 4 1000884 frameshift variant T/- delins
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		0.700 0
dbSNP: rs1179536678
rs1179536678
PCCA ; PCCA-DT
1.000 0.080 13 100089121 frameshift variant -/T delins 7.0E-06
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.700 0
dbSNP: rs781030239
rs781030239
PCCA ; PCCA-DT
1.000 0.080 13 100089189 frameshift variant GCAGCTGATG/- del
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.700 1.000 2 2001 2016
dbSNP: rs879253804
rs879253804
PCCA ; PCCA-DT
1.000 0.080 13 100089226 splice donor variant G/A snv
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.700 1.000 1 2016 2016
dbSNP: rs1553916950
rs1553916950
IDUA
1.000 0.120 4 1000983 stop gained -/A delins
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		0.700 0
dbSNP: rs1553916957
rs1553916957
IDUA
1.000 0.120 4 1000990 splice donor variant G/A snv
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		0.700 1.000 1 2011 2011
dbSNP: rs121434476
rs121434476
COX3 ; ND3 ; ND4 ; ND4L ; TRNG
MT 10010 non coding transcript exon variant T/C snv
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		0.700 0
dbSNP: rs797045249
rs797045249
MCM7 ; AP4M1
1.000 0.080 7 100101745 frameshift variant A/- delins 7.0E-06
CUI: C2752008
Disease: Spastic Paraplegia-50, Autosomal Recessive
Spastic Paraplegia-50, Autosomal Recessive 		0.700 0