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: rs1569548274
rs1569548274
MECP2
0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs28934906
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.900 1.000 42 1999 2017
dbSNP: rs28935468
rs28935468
MECP2
0.732 0.240 X 154030912 missense variant G/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.870 1.000 22 1999 2017
dbSNP: rs28934907
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.840 1.000 10 1999 2017
dbSNP: rs61749721
rs61749721
MECP2
0.732 0.200 X 154031065 stop gained G/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.720 1.000 8 1999 2010
dbSNP: rs28934908
rs28934908
MECP2
0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.710 1.000 6 2002 2016
dbSNP: rs61750240
rs61750240
MECP2
0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.760 1.000 21 2000 2016
dbSNP: rs267608327
rs267608327
MECP2
0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 1.000 5 2004 2013
dbSNP: rs28934904
rs28934904
MECP2
0.776 0.200 X 154031431 missense variant G/A;C;T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.880 1.000 16 1999 2017
dbSNP: rs61751362
rs61751362
MECP2
0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.730 1.000 17 1975 2013
dbSNP: rs61748421
rs61748421
MECP2
0.807 0.200 X 154031326 stop gained G/A;T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.740 1.000 40 1999 2014
dbSNP: rs61750241
rs61750241
MECP2
0.807 0.080 X 154031022 frameshift variant C/- delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 1.000 11 1999 2012
dbSNP: rs179363900
rs179363900
MECP2
0.807 0.080 X 154031374 missense variant G/C snv 5.5E-06 1.9E-05
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.710 1.000 0 2009 2009
dbSNP: rs61752992
rs61752992
MECP2
0.807 0.120 X 154030621 splice acceptor variant TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC/- delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs1557134621
rs1557134621
MECP2
0.827 0.120 X 154030106 splice acceptor variant CCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAG/- delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs1557135315
rs1557135315
MECP2
0.851 0.080 X 154030627 splice acceptor variant GGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTG/- delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs61748420
rs61748420
MECP2
0.851 0.200 X 154031329 missense variant G/A;T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs61749715
rs61749715
MECP2
0.851 0.120 X 154031154 missense variant G/A;C snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.800 1.000 0 1999 2017
dbSNP: rs61748404
rs61748404
MECP2
0.882 0.120 X 154031373 missense variant G/C;T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.810 1.000 7 1999 2017
dbSNP: rs63749748
rs63749748
MECP2
0.882 0.080 X 154030628 splice acceptor variant TGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGG/- delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 1.000 6 2000 2012
dbSNP: rs61748396
rs61748396
MECP2
0.882 0.080 X 154031405 stop gained G/C;T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 1.000 5 2001 2007
dbSNP: rs61751444
rs61751444
MECP2
0.882 0.080 X 154030903 missense variant G/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.720 1.000 2 2007 2016
dbSNP: rs179363901
rs179363901
MECP2
0.882 0.120 X 154097661 missense variant G/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs267608426
rs267608426
MECP2
0.882 0.080 X 154032473 frameshift variant TCTT/- delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs61751364
rs61751364
MECP2
0.882 0.120 X 154030944 frameshift variant CGGAT/- delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.770 1.000 0 2005 2016