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: rs1562355401
rs1562355401
ARID1B
1.000 0.280 6 157207841 frameshift variant C/- del
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0
dbSNP: rs758120346
rs758120346
ARID1B
1.000 0.280 6 157207667 stop gained C/A;T snv 8.0E-06
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0
dbSNP: rs1562354784
rs1562354784
ARID1B
0.925 0.280 6 157207612 frameshift variant A/- delins
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0
dbSNP: rs1562354784
rs1562354784
ARID1B
0.925 0.280 6 157207612 frameshift variant A/- delins
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		0.700 0
dbSNP: rs876657379
rs876657379
ARID1B
1.000 0.280 6 157207603 frameshift variant AGCATTGGAAA/- delins
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0
dbSNP: rs1554238072
rs1554238072
ARID1B
1.000 0.280 6 157207523 stop gained C/T snv
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0
dbSNP: rs1057519002
rs1057519002
ARID1B
1.000 6 157207497 frameshift variant T/- delins
CUI: C0683322
Disease: Mental impairment
Mental impairment 		0.700 0
dbSNP: rs886040958
rs886040958
ARID1B
1.000 0.280 6 157207395 frameshift variant CC/- delins
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs886040958
rs886040958
ARID1B
1.000 0.280 6 157207395 frameshift variant CC/- delins
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay 		0.700 0
dbSNP: rs886040958
rs886040958
ARID1B
1.000 0.280 6 157207395 frameshift variant CC/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 0
dbSNP: rs886040958
rs886040958
ARID1B
1.000 0.280 6 157207395 frameshift variant CC/- delins
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0
dbSNP: rs1554237992
rs1554237992
ARID1B
1.000 0.280 6 157207393 stop gained -/CCCTCTGTAAACTCAGTATCCAGGACAA delins
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0
dbSNP: rs869312697
rs869312697
ARID1B
0.882 0.400 6 157207241 stop gained C/T snv
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 0
dbSNP: rs869312697
rs869312697
ARID1B
0.882 0.400 6 157207241 stop gained C/T snv
CUI: C0015672
Disease: Fatigue
Fatigue 		0.700 0
dbSNP: rs869312697
rs869312697
ARID1B
0.882 0.400 6 157207241 stop gained C/T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs869312697
rs869312697
ARID1B
0.882 0.400 6 157207241 stop gained C/T snv
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs869312697
rs869312697
ARID1B
0.882 0.400 6 157207241 stop gained C/T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs869312697
rs869312697
ARID1B
0.882 0.400 6 157207241 stop gained C/T snv
CUI: C0013363
Disease: Dysautonomia
Dysautonomia 		0.700 0
dbSNP: rs869312697
rs869312697
ARID1B
0.882 0.400 6 157207241 stop gained C/T snv
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0
dbSNP: rs869312697
rs869312697
ARID1B
0.882 0.400 6 157207241 stop gained C/T snv
CUI: C0585984
Disease: Laryngotracheomalacia
Laryngotracheomalacia 		0.700 0
dbSNP: rs1554237848
rs1554237848
ARID1B
1.000 6 157207180 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1984 2017
dbSNP: rs1554237848
rs1554237848
ARID1B
1.000 6 157207180 stop gained G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 20 1984 2017
dbSNP: rs797045283
rs797045283
ARID1B
0.827 0.320 6 157207109 stop gained C/T snv
CUI: C4551629
Disease: Congenital talipes calcaneovalgus
Congenital talipes calcaneovalgus 		0.700 0
dbSNP: rs797045283
rs797045283
ARID1B
0.827 0.320 6 157207109 stop gained C/T snv
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs797045283
rs797045283
ARID1B
0.827 0.320 6 157207109 stop gained C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0