Source: CURATED

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: rs1064796453
rs1064796453
CTNNB1
3 41235799 stop gained C/A;T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 22 1991 2017
dbSNP: rs1064796453
rs1064796453
CTNNB1
3 41235799 stop gained C/A;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 22 1991 2017
dbSNP: rs1553630472
rs1553630472
CTNNB1
1.000 3 41225721 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 22 1991 2017
dbSNP: rs1553631770
rs1553631770
CTNNB1
1.000 3 41233398 missense variant A/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 22 1991 2017
dbSNP: rs1553631770
rs1553631770
CTNNB1
1.000 3 41233398 missense variant A/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 22 1991 2017
dbSNP: rs1553631770
rs1553631770
CTNNB1
1.000 3 41233398 missense variant A/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 22 1991 2017
dbSNP: rs1553631770
rs1553631770
CTNNB1
1.000 3 41233398 missense variant A/T snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 22 1991 2017
dbSNP: rs1553631783
rs1553631783
CTNNB1
3 41233416 frameshift variant G/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 22 1991 2017
dbSNP: rs1553631783
rs1553631783
CTNNB1
3 41233416 frameshift variant G/- delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 22 1991 2017
dbSNP: rs1553632361
rs1553632361
CTNNB1
3 41236468 frameshift variant AG/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 22 1991 2017
dbSNP: rs797044875
rs797044875
CTNNB1
1.000 3 41235763 missense variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 22 1991 2017
dbSNP: rs797044875
rs797044875
CTNNB1
1.000 3 41235763 missense variant G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 22 1991 2017
dbSNP: rs797044875
rs797044875
CTNNB1
1.000 3 41235763 missense variant G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 22 1991 2017
dbSNP: rs1057519836
rs1057519836
CTNNB1
3 41224630 missense variant A/C;G;T snv
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.700 1.000 1 2014 2014
dbSNP: rs1057519836
rs1057519836
CTNNB1
3 41224630 missense variant A/C;G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.700 1.000 1 2014 2014
dbSNP: rs1722845
rs1722845
CTNNB1
3 41200876 intron variant C/T snv 0.41
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1369821061
rs1369821061
CTNNB1
1.000 3 41224980 stop gained C/A;T snv
CUI: C3554449
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		0.700 0
dbSNP: rs1553630304
rs1553630304
CTNNB1
1.000 3 41225138 stop gained -/CAAGATGATGCAGAACTTGCCACACGTGCAATCCCTGAACTGAC delins
CUI: C3554449
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		0.700 0
dbSNP: rs1553630507
rs1553630507
CTNNB1
1.000 3 41225790 frameshift variant ACA/CC delins
CUI: C3554449
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		0.700 0
dbSNP: rs1553631860
rs1553631860
CTNNB1
1.000 3 41233763 stop gained C/T snv
CUI: C3554449
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		0.700 0
dbSNP: rs1559468403
rs1559468403
CTNNB1
1.000 3 41225208 splice donor variant G/C snv
CUI: C3554449
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		0.700 0
dbSNP: rs1559474364
rs1559474364
CTNNB1
1.000 3 41233640 stop gained A/T snv
CUI: C3554449
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		0.700 0
dbSNP: rs1559474966
rs1559474966
CTNNB1
1.000 3 41234202 stop gained C/T snv
CUI: C3554449
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		0.700 0
dbSNP: rs1559477241
rs1559477241
CTNNB1
1.000 3 41236709 missense variant G/C snv
CUI: C3554449
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		0.700 0
dbSNP: rs376393123
rs376393123
CTNNB1
1.000 3 41225850 stop gained C/G;T snv
CUI: C3554449
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		0.700 0