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: rs935855792
rs935855792
ETHE1
0.925 0.240 19 43511436 splice donor variant C/A;G;T snv 8.0E-06
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 0
dbSNP: rs926027867
rs926027867
CAMK2A
0.882 0.040 5 150251808 missense variant G/A;T snv
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 1.000 1 2017 2017
dbSNP: rs912001256
rs912001256
SCN4A
0.851 0.240 17 63947062 stop gained G/A snv
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 0
dbSNP: rs886041287
rs886041287
TTN ; TTN-AS1
0.882 0.160 2 178535594 frameshift variant -/GT delins
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 0
dbSNP: rs878854378
rs878854378
TTN ; TTN-AS1
0.742 0.320 2 178533657 inframe deletion GTT/- delins
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 0
dbSNP: rs80358263
rs80358263
NPC2
0.827 0.280 14 74486378 stop gained G/T snv 8.4E-06
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 0
dbSNP: rs763944786
rs763944786
RYR1
0.925 0.080 19 38469119 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 0
dbSNP: rs756421370
rs756421370
MECR
0.807 0.120 1 29200513 splice donor variant -/A delins 1.4E-04 6.3E-05
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 0
dbSNP: rs751889864
rs751889864
MUSK ; LOC107987115
0.925 0.120 9 110785664 missense variant T/A;C snv 4.0E-06; 1.6E-05
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 0
dbSNP: rs61752992
rs61752992
MECP2
0.807 0.120 X 154030621 splice acceptor variant TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC/- delins
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 0
dbSNP: rs587784177
rs587784177
NSD1
0.790 0.280 5 177283827 missense variant G/A snv
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 0
dbSNP: rs587782995
rs587782995
PURA
0.708 0.360 5 140114480 missense variant T/C snv
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 0
dbSNP: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 1.000 1 2016 2016
dbSNP: rs543860009
rs543860009
TTN ; TTN-AS1
0.742 0.320 2 178589003 stop gained G/A;T snv
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 0
dbSNP: rs387907329
rs387907329
WDR45 ; PRAF2
0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 0
dbSNP: rs387906686
rs387906686
SCN2A
0.742 0.320 2 165310413 missense variant C/A;T snv
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 0
dbSNP: rs373145711
rs373145711
ASXL1
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 0
dbSNP: rs312262717
rs312262717
SPG11
0.790 0.240 15 44659104 frameshift variant A/-;AA delins
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 1.000 1 2009 2009
dbSNP: rs312262690
rs312262690
ANTXR2
0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 0
dbSNP: rs267608463
rs267608463
MECP2
0.925 0.120 X 154032206 splice donor variant C/A;T snv
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 0
dbSNP: rs267606740
rs267606740
COG4
0.925 0.040 16 70481397 missense variant G/A snv 2.4E-05 1.4E-05
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 0
dbSNP: rs188675529
rs188675529
THAP11 ; CENPT
0.827 0.240 16 67842794 missense variant C/G;T snv 1.6E-03 6.0E-04
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 0
dbSNP: rs1569548274
rs1569548274
MECP2
0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 0
dbSNP: rs1569518070
rs1569518070
COL6A1
0.752 0.480 21 45989088 inframe deletion AAC/- del
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 0
dbSNP: rs1569355102
rs1569355102
DYRK1A
0.695 0.360 21 37472869 frameshift variant TAAC/- delins
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 0