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: rs1557134819
rs1557134819
MECP2
1.000 0.080 X 154030354 splice acceptor variant GTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCC/- delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs1557134858
rs1557134858
MECP2
1.000 0.080 X 154030370 splice acceptor variant GCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGG/- del
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs1557135016
rs1557135016
MECP2
1.000 0.080 X 154030482 splice acceptor variant TTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCT/- del
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs1557135039
rs1557135039
MECP2
1.000 0.080 X 154030491 frameshift variant CGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGC/- delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs1557135076
rs1557135076
MECP2
1.000 0.080 X 154030502 splice acceptor variant CAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGG/- delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs1557135110
rs1557135110
MECP2
1.000 0.080 X 154030545 splice acceptor variant CCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTG/TGCAAAGAGGAGAAGATGCCCAGAGGAGGCTCACT delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs1557135125
rs1557135125
MECP2
1.000 0.080 X 154030559 splice acceptor variant TGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCA/- del
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs1557135128
rs1557135128
MECP2
1.000 0.080 X 154030561 splice acceptor variant AGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCT/C delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs1557135137
rs1557135137
MECP2
1.000 0.080 X 154030562 frameshift variant CCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGG/- delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs1557135197
rs1557135197
MECP2
1.000 0.080 X 154030592 splice acceptor variant ACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGG/- delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs1557135212
rs1557135212
MECP2
1.000 0.080 X 154030601 splice acceptor variant TCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGC/- delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs1557135213
rs1557135213
MECP2
1.000 0.080 X 154030603 splice acceptor variant TCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATG/- del
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs1557135218
rs1557135218
MECP2
1.000 0.080 X 154030605 splice acceptor variant AAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCC/T delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs1557135225
rs1557135225
MECP2
1.000 0.080 X 154030609 splice acceptor variant CTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCC/- delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs1557135268
rs1557135268
MECP2
1.000 0.080 X 154030622 splice acceptor variant GGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGC/- del
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs1557135285
rs1557135285
MECP2
1.000 0.080 X 154030625 splice acceptor variant GGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCT/- delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs1557135295
rs1557135295
MECP2
1.000 0.080 X 154030626 splice acceptor variant GGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCT/- delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs1557135299
rs1557135299
MECP2
1.000 0.080 X 154030626 splice acceptor variant GGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACT/- delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs1557135300
rs1557135300
MECP2
1.000 0.080 X 154030626 splice acceptor variant GGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCT/- delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs1557135314
rs1557135314
MECP2
1.000 0.080 X 154030627 splice acceptor variant GGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGG/- 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: rs1557135317
rs1557135317
MECP2
1.000 0.080 X 154030627 splice acceptor variant TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTG/- del
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs1557135338
rs1557135338
MECP2
1.000 0.080 X 154030628 splice acceptor variant TGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGG/- delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs1557135346
rs1557135346
MECP2
1.000 0.080 X 154030629 splice acceptor variant GTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGT/A delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs1557135350
rs1557135350
MECP2
1.000 0.080 X 154030629 splice acceptor variant TGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTG/- delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0