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: rs1562846694
rs1562846694
TFR2 ; ACTL6B
0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.700 1.000 1 2019 2019
dbSNP: rs1060499737
rs1060499737
DHX37
12 124968903 missense variant G/T snv
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.700 0
dbSNP: rs1085307845
rs1085307845
PHIP
0.752 0.320 6 79025582 missense variant G/T snv
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.700 0
dbSNP: rs1131691771
rs1131691771
PHIP ; IRAK1BP1
0.807 0.160 6 78958469 splice donor variant ACTT/- delins
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.700 0
dbSNP: rs1177898071
rs1177898071
PSMC3
0.925 0.240 11 47419927 intron variant T/C;G snv
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.700 0
dbSNP: rs141138948
rs141138948
EXOSC3
0.807 0.120 9 37783993 missense variant T/C;G snv 4.1E-04
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.700 0
dbSNP: rs1554210073
rs1554210073
PHIP
0.752 0.320 6 79042844 frameshift variant GT/A delins
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.700 0
dbSNP: rs1554902217
rs1554902217
TPP1
0.851 0.160 11 6618821 frameshift variant A/- del
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.700 0
dbSNP: rs1560264452
rs1560264452
SOX2 ; SOX2-OT
0.851 0.200 3 181712745 frameshift variant GG/- del
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.700 0
dbSNP: rs1562114190
rs1562114190
PHIP ; IRAK1BP1
0.790 0.160 6 78946061 frameshift variant A/- delins
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.700 0
dbSNP: rs1562127631
rs1562127631
PHIP ; IRAK1BP1
0.742 0.360 6 78961751 frameshift variant C/- del
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.700 0
dbSNP: rs1562134961
rs1562134961
PHIP ; IRAK1BP1
0.776 0.320 6 78969879 frameshift variant A/- delins
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.700 0
dbSNP: rs1562150844
rs1562150844
PHIP
0.790 0.280 6 78982908 frameshift variant CTTT/- delins
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.700 0
dbSNP: rs1562171209
rs1562171209
PHIP
0.851 0.160 6 79003821 missense variant T/C snv
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.700 0
dbSNP: rs1562203136
rs1562203136
PHIP
0.882 0.120 6 79042902 frameshift variant -/T ins
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.700 0
dbSNP: rs1568135082
rs1568135082
ZNF407
18 74633832 inframe insertion -/AGT delins
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.700 0
dbSNP: rs1569110700
rs1569110700
TCF20
0.925 0.080 22 42179633 missense variant G/A snv
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.700 0
dbSNP: rs201430951
rs201430951
NUBPL
0.925 0.040 14 31599308 missense variant T/C snv 1.5E-04 5.6E-05
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.700 0
dbSNP: rs267607093
rs267607093
SRD5A3
0.851 0.160 4 55359444 stop gained G/A snv 4.0E-06
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.700 0
dbSNP: rs752746786
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.700 0
dbSNP: rs755604487
rs755604487
PHIP
0.790 0.200 6 79026079 stop gained G/A;C snv
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.700 0
dbSNP: rs758361736
rs758361736
KIF7
0.776 0.240 15 89649836 missense variant T/G snv 1.3E-05 1.4E-05
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.700 0
dbSNP: rs765965968
rs765965968
TBC1D24
0.882 0.080 16 2498333 missense variant G/A;T snv 1.3E-05; 4.2E-06
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.700 0
dbSNP: rs78635798
rs78635798
RNASEH2C
0.925 0.120 11 65720385 missense variant G/A snv 9.2E-05 1.4E-05
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		0.700 0