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: rs1555454508
rs1555454508
SPG11
0.790 0.240 15 44615487 stop gained GTA/ATC mnv
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: rs1554122123
rs1554122123
CAMK2A
0.925 0.040 5 150251979 splice donor variant -/A delins
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 1.000 1 2017 2017
dbSNP: rs1554123982
rs1554123982
CAMK2A
0.925 0.040 5 150273157 splice acceptor variant C/- delins
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 1.000 1 2017 2017
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: rs1555462347
rs1555462347
USP7
0.716 0.520 16 8901028 frameshift variant CT/- delins
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
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: 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: 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: 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: 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: 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: rs121908557
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 1.000 2 2004 2008
dbSNP: rs1034395178
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 1.000 1 2018 2018
dbSNP: rs1057521721
rs1057521721
GRIA3
0.851 0.200 X 123428020 missense variant G/A snv
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 1.000 1 2017 2017
dbSNP: rs1287121256
rs1287121256
CAMK2A
0.882 0.040 5 150256777 missense variant C/G;T snv 7.0E-06
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 1.000 1 2017 2017
dbSNP: rs1554121872
rs1554121872
CAMK2A
0.882 0.040 5 150250270 missense variant T/G snv
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 1.000 1 2017 2017
dbSNP: rs1554121875
rs1554121875
CAMK2A
0.882 0.040 5 150250281 missense variant T/C snv
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 1.000 1 2017 2017
dbSNP: rs1554122129
rs1554122129
CAMK2A
0.882 0.040 5 150252032 missense variant T/A snv
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 1.000 1 2017 2017
dbSNP: rs1554122526
rs1554122526
CAMK2A
0.882 0.040 5 150256811 missense variant A/G snv
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 1.000 1 2017 2017
dbSNP: rs1554385305
rs1554385305
CAMK2B
0.925 0.040 7 44241784 splice acceptor variant C/T snv
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 1.000 1 2017 2017
dbSNP: rs1554386687
rs1554386687
CAMK2B
0.882 0.040 7 44242328 missense variant C/T snv
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 1.000 1 2017 2017
dbSNP: rs1554389088
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 1.000 1 2017 2017
dbSNP: rs1554904159
rs1554904159
BRSK2 ; LOC107984298
0.851 0.160 11 1442607 splice donor variant G/A snv
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 1.000 1 2019 2019