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: rs1057518648
rs1057518648
ARID1B
1.000 0.280 6 156777946 missense variant G/A snv 8.0E-06
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0
dbSNP: rs1554247637
rs1554247637
ARID1B
1.000 6 156778646 frameshift variant TGCGAGCGGCGGCC/G delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 20 1984 2017
dbSNP: rs1554247637
rs1554247637
ARID1B
1.000 6 156778646 frameshift variant TGCGAGCGGCGGCC/G delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1984 2017
dbSNP: rs1554248236
rs1554248236
ARID1B ; MIR4466
1.000 0.280 6 156779412 stop gained C/T snv
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0
dbSNP: rs1057518951
rs1057518951
ARID1B
0.827 0.160 6 156829296 stop gained C/T snv
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		0.700 0
dbSNP: rs1057518951
rs1057518951
ARID1B
0.827 0.160 6 156829296 stop gained C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057518951
rs1057518951
ARID1B
0.827 0.160 6 156829296 stop gained C/T snv
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		0.700 0
dbSNP: rs1057518951
rs1057518951
ARID1B
0.827 0.160 6 156829296 stop gained C/T snv
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia 		0.700 0
dbSNP: rs1057518951
rs1057518951
ARID1B
0.827 0.160 6 156829296 stop gained C/T snv
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.700 0
dbSNP: rs1554256703
rs1554256703
ARID1B
0.925 0.280 6 156829302 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1984 2017
dbSNP: rs1554256703
rs1554256703
ARID1B
0.925 0.280 6 156829302 stop gained C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 20 1984 2017
dbSNP: rs1554256703
rs1554256703
ARID1B
0.925 0.280 6 156829302 stop gained C/T snv
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0
dbSNP: rs1060499668
rs1060499668
ARID1B
1.000 0.280 6 156829419 stop gained C/T snv
CUI: C1303073
Disease: Nicolaides Baraitser syndrome
Nicolaides Baraitser syndrome 		0.700 0
dbSNP: rs201653711
rs201653711
ARID1B
0.925 0.280 6 156871638 stop gained G/T snv 1.2E-05 7.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1984 2017
dbSNP: rs201653711
rs201653711
ARID1B
0.925 0.280 6 156871638 stop gained G/T snv 1.2E-05 7.0E-06
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0
dbSNP: rs1554265271
rs1554265271
ARID1B
1.000 0.280 6 156901427 stop gained C/T snv
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0
dbSNP: rs1554265275
rs1554265275
ARID1B
1.000 0.280 6 156901439 stop gained -/A delins
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0
dbSNP: rs1554265319
rs1554265319
ARID1B
1.000 0.280 6 156901497 frameshift variant -/G delins
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0
dbSNP: rs387907142
rs387907142
ARID1B
1.000 0.280 6 156901502 stop gained C/T snv
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0
dbSNP: rs1554270809
rs1554270809
ARID1B
1.000 0.280 6 156935499 stop gained C/T snv
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0
dbSNP: rs1554294593
rs1554294593
ARID1B
1.000 0.280 6 157084701 stop gained G/T snv
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0
dbSNP: rs753933273
rs753933273
ARID1B
1.000 0.280 6 157084773 stop gained C/A;T snv 1.6E-05
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0
dbSNP: rs869312712
rs869312712
ARID1B
0.925 0.360 6 157084866 stop gained C/T snv
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.700 0
dbSNP: rs869312712
rs869312712
ARID1B
0.925 0.360 6 157084866 stop gained C/T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs869312712
rs869312712
ARID1B
0.925 0.360 6 157084866 stop gained C/T snv
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0