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: rs878853312
rs878853312
MECP2
1.000 0.080 X 154031178 missense variant G/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs797045695
rs797045695
MECP2
1.000 0.080 X 154031156 frameshift variant -/ATCTTGA delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs797045694
rs797045694
MECP2
1.000 0.080 X 154032527 frameshift variant CTGGAGGTCCT/- del
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs797045693
rs797045693
MECP2
1.000 0.080 X 154097635 frameshift variant GC/- delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs786205895
rs786205895
MECP2
1.000 0.080 X 154031438 frameshift variant T/- delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs786205892
rs786205892
MECP2
1.000 0.080 X 154092209 start lost T/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs786205049
rs786205049
MECP2
1.000 0.080 X 154097601 splice donor variant CA/- delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs786205048
rs786205048
MECP2
0.925 0.080 X 154097603 splice donor variant C/T snv
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS 		0.700 0
dbSNP: rs786205048
rs786205048
MECP2
0.925 0.080 X 154097603 splice donor variant C/T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs786205047
rs786205047
MECP2
1.000 0.080 X 154097606 frameshift variant TC/- delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs786205045
rs786205045
MECP2
1.000 0.080 X 154097618 synonymous variant G/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.710 1.000 0 2013 2013
dbSNP: rs786205043
rs786205043
MECP2
1.000 0.080 X 154097611 frameshift variant GCCTCCTC/-;GCCTCCTCGCCTCCTC delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs786205042
rs786205042
MECP2
1.000 0.080 X 154097609 frameshift variant GCCTCCTCCTC/-;GCCTCCTCCTCGCCTCCTCCTC delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs786205040
rs786205040
MECP2
1.000 0.080 X 154097636 frameshift variant G/TC delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs786205038
rs786205038
MECP2
1.000 0.080 X 154097638 frameshift variant -/CGGCG delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs786205031
rs786205031
MECP2
1.000 0.080 X 154030948 frameshift variant GGATAGAAGACT/TGTG delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs786205030
rs786205030
MECP2
1.000 0.080 X 154030969 frameshift variant CTTTC/AGTCTTTTTTTT delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs786205028
rs786205028
MECP2
1.000 0.080 X 154031010 frameshift variant CCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCT/- del
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs786205027
rs786205027
MECP2
1.000 0.080 X 154031062 splice donor variant T/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs786205025
rs786205025
MECP2
1.000 0.080 X 154032262 frameshift variant -/TTCC delins 5.5E-06
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs786205023
rs786205023
MECP2
1.000 0.080 X 154030417 frameshift variant TGTT/CA delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs786205021
rs786205021
MECP2
1.000 0.080 X 154030647 frameshift variant -/A ins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs786205020
rs786205020
MECP2
1.000 0.080 X 154030634 splice acceptor variant TCCTCGGAGCTCTCGGGCTCAGGTGGAGGTG/- delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs786205019
rs786205019
MECP2
0.925 0.120 X 154030644 splice acceptor variant CTCTCGGGCTCAGGTGGAGGT/TGCTCAAGTCCTGGGGCTCAG mnv
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.700 0
dbSNP: rs786205019
rs786205019
MECP2
0.925 0.120 X 154030644 splice acceptor variant CTCTCGGGCTCAGGTGGAGGT/TGCTCAAGTCCTGGGGCTCAG mnv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0