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: 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: rs61748408
rs61748408
MECP2
0.925 0.080 X 154031360 missense variant G/A;C;T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 1.000 10 2000 2012
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: 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: 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: rs267608465
rs267608465
MECP2
1.000 0.080 X 154031453 splice region variant G/A;C;T snv 1.7E-05; 5.5E-06
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 1.000 4 2005 2015
dbSNP: rs61749743
rs61749743
MECP2
1.000 0.080 X 154031118 frameshift variant C/-;CC delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 1.000 4 1992 2013
dbSNP: rs267608438
rs267608438
MECP2
1.000 0.080 X 154032381 stop gained G/A;C snv 5.5E-06
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 1.000 2 2005 2013
dbSNP: rs61749751
rs61749751
MECP2
0.925 0.080 X 154031075 frameshift variant G/-;GG;GGG delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 1.000 2 2002 2007
dbSNP: rs1060499620
rs1060499620
MECP2
1.000 0.080 X 154030803 frameshift variant -/CT ins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 1.000 1 2013 2013
dbSNP: rs1060499621
rs1060499621
MECP2
1.000 0.080 X 154031150 frameshift variant A/- delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 1.000 1 2013 2013
dbSNP: rs1064792898
rs1064792898
MECP2
1.000 0.080 X 154030699 frameshift variant ACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGG/- delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 1.000 1 2013 2013
dbSNP: rs1064792899
rs1064792899
MECP2
1.000 0.080 X 154030690 inframe deletion GGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTC/- delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 1.000 1 2013 2013
dbSNP: rs267608333
rs267608333
MECP2
1.000 0.080 X 154030623 frameshift variant GGTGGGGTCCTCGGAGCTCTCGGGCT/- delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 1.000 1 2000 2000
dbSNP: rs267608520
rs267608520
MECP2
1.000 0.080 X 154031085 frameshift variant ATCACCAT/CAC delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 1.000 1 2013 2013
dbSNP: rs267608525
rs267608525
MECP2
1.000 0.080 X 154031044 stop gained G/A;C snv 1.1E-05
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 1.000 1 2001 2001
dbSNP: rs104894864
rs104894864
MECP2
1.000 0.080 X 154030465 stop gained C/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs1057518718
rs1057518718
MECP2
1.000 0.080 X 154032252 missense variant C/T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs1064797104
rs1064797104
MECP2
1.000 0.080 X 154031053 stop gained -/TCAGCTTTTCGCTTCCTGCCGGGGC delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs1557134378
rs1557134378
MECP2
1.000 0.080 X 154029799 splice acceptor variant GACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTT/CCACGG delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs1557134481
rs1557134481
MECP2
1.000 0.080 X 154029915 splice acceptor variant GGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGG/- 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: rs1557134720
rs1557134720
MECP2
1.000 0.080 X 154030250 splice acceptor variant AAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCA/- delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs1557134770
rs1557134770
MECP2
1.000 0.080 X 154030328 splice acceptor variant ATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTG/- del
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs1557134779
rs1557134779
MECP2
1.000 0.080 X 154030338 splice acceptor variant TTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTG/- delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0