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: rs879255626
rs879255626
TRIO
1.000 5 14394102 missense variant G/A snv
CUI: C4310740
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 		0.800 1.000 0 2016 2016
dbSNP: rs879255627
rs879255627
TRIO
1.000 5 14397112 missense variant C/A snv
CUI: C4310740
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 		0.800 1.000 0 2016 2016
dbSNP: rs879255628
rs879255628
TRIO
1.000 5 14374251 missense variant A/T snv
CUI: C4310740
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 		0.800 1.000 0 2016 2016
dbSNP: rs1554062562
rs1554062562
TRIO
1.000 5 14359442 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 9 1996 2017
dbSNP: rs1554062562
rs1554062562
TRIO
1.000 5 14359442 stop gained C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 9 1996 2017
dbSNP: rs1554062562
rs1554062562
TRIO
1.000 5 14359442 stop gained C/T snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 9 1996 2017
dbSNP: rs1554062588
rs1554062588
TRIO
1.000 5 14359499 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 9 1996 2017
dbSNP: rs1554064863
rs1554064863
TRIO
1.000 5 14369426 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 9 1996 2017
dbSNP: rs1057516029
rs1057516029
TRIO
0.882 0.160 5 14290809 stop gained G/T snv
CUI: C0016689
Disease: Freckles
Freckles 		0.700 0
dbSNP: rs1057516029
rs1057516029
TRIO
0.882 0.160 5 14290809 stop gained G/T snv
CUI: C3494422
Disease: Retrognathia
Retrognathia 		0.700 0
dbSNP: rs1057516029
rs1057516029
TRIO
0.882 0.160 5 14290809 stop gained G/T snv
CUI: C2940786
Disease: Thyroid Hormone Resistance Syndrome
Thyroid Hormone Resistance Syndrome 		0.700 0
dbSNP: rs1057516029
rs1057516029
TRIO
0.882 0.160 5 14290809 stop gained G/T snv
CUI: C4021375
Disease: Attached earlobe
Attached earlobe 		0.700 0
dbSNP: rs1057516029
rs1057516029
TRIO
0.882 0.160 5 14290809 stop gained G/T snv
CUI: C4310740
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 		0.700 0
dbSNP: rs1057516029
rs1057516029
TRIO
0.882 0.160 5 14290809 stop gained G/T snv
CUI: C4073210
Disease: Hyperplasia of the premaxilla
Hyperplasia of the premaxilla 		0.700 0
dbSNP: rs1554065887
rs1554065887
TRIO
0.925 0.120 5 14374244 missense variant C/T snv
CUI: C1853276
Disease: Deafness, Autosomal Recessive 28
Deafness, Autosomal Recessive 28 		0.700 0
dbSNP: rs1554065887
rs1554065887
TRIO
0.925 0.120 5 14374244 missense variant C/T snv
CUI: C4310740
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 		0.700 0
dbSNP: rs879255622
rs879255622
TRIO
1.000 5 14390300 stop gained G/A snv
CUI: C4310740
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 		0.700 0
dbSNP: rs879255623
rs879255623
TRIO
1.000 5 14387619 frameshift variant A/- del
CUI: C4310740
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 		0.700 0
dbSNP: rs879255624
rs879255624
TRIO
1.000 5 14290824 stop gained A/T snv
CUI: C4310740
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 		0.700 0
dbSNP: rs879255625
rs879255625
TRIO
1.000 5 14398922 frameshift variant A/- del
CUI: C4310740
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 		0.700 0