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: rs1553602821
rs1553602821
TRIP12
1.000 2 229785842 missense variant C/T snv
CUI: C4540324
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 49
MENTAL RETARDATION, AUTOSOMAL DOMINANT 49 		0.800 1.000 0 2017 2017
dbSNP: rs1553704696
rs1553704696
TRIP12
1.000 2 229859313 frameshift variant T/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 21 1998 2017
dbSNP: rs1553704696
rs1553704696
TRIP12
1.000 2 229859313 frameshift variant T/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 21 1998 2017
dbSNP: rs1553612358
rs1553612358
TRIP12
1.000 2 229795178 splice donor variant C/T snv
CUI: C4540324
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 49
MENTAL RETARDATION, AUTOSOMAL DOMINANT 49 		0.700 0
dbSNP: rs1553614300
rs1553614300
TRIP12
1.000 2 229796735 frameshift variant TG/- del
CUI: C4540324
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 49
MENTAL RETARDATION, AUTOSOMAL DOMINANT 49 		0.700 0
dbSNP: rs1553616463
rs1553616463
TRIP12
1.000 2 229798874 splice donor variant C/T snv
CUI: C4540324
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 49
MENTAL RETARDATION, AUTOSOMAL DOMINANT 49 		0.700 0
dbSNP: rs1553620494
rs1553620494
TRIP12
1.000 2 229802253 frameshift variant -/T delins
CUI: C4540324
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 49
MENTAL RETARDATION, AUTOSOMAL DOMINANT 49 		0.700 0
dbSNP: rs1553655558
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins
CUI: C1856963
Disease: Fragile nails
Fragile nails 		0.700 0
dbSNP: rs1553655558
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins
CUI: C1861324
Disease: Short philtrum
Short philtrum 		0.700 0
dbSNP: rs1553655558
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs1553655558
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins
CUI: C0019825
Disease: Hoarseness
Hoarseness 		0.700 0
dbSNP: rs1553655558
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins
CUI: C0231835
Disease: Tachypnea
Tachypnea 		0.700 0
dbSNP: rs1553655558
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins
CUI: C2939175
Disease: Meconium ileus
Meconium ileus 		0.700 0
dbSNP: rs1553655558
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.700 0
dbSNP: rs1553655558
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		0.700 0
dbSNP: rs1553655558
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins
CUI: C4025741
Disease: Clinodactyly of the 5th toe
Clinodactyly of the 5th toe 		0.700 0
dbSNP: rs1553655558
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.700 0
dbSNP: rs1553655558
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		0.700 0
dbSNP: rs1553655558
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.700 0
dbSNP: rs1553655558
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins
CUI: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation 		0.700 0
dbSNP: rs1553655558
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		0.700 0
dbSNP: rs1553655558
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins
CUI: C1867131
Disease: Broad hallux
Broad hallux 		0.700 0
dbSNP: rs1553655558
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins
CUI: C1867873
Disease: Failure to thrive in infancy
Failure to thrive in infancy 		0.700 0
dbSNP: rs1553655558
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins
CUI: C0009806
Disease: Constipation
Constipation 		0.700 0
dbSNP: rs1553655558
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins
CUI: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		0.700 0