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: rs1553412485
rs1553412485
DNMT3A
1.000 0.160 2 25244573 missense variant T/C snv
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		0.700 0
dbSNP: rs1164367418
rs1164367418
DNMT3A
1.000 0.160 2 25244579 frameshift variant C/-;CC delins
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		0.700 0
dbSNP: rs1553412880
rs1553412880
DNMT3A
1.000 0.160 2 25245297 frameshift variant G/- delins
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		0.700 0
dbSNP: rs1558669964
rs1558669964
DNMT3A
1.000 0.160 2 25246656 frameshift variant G/- delins
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		0.700 0
dbSNP: rs1558671136
rs1558671136
DNMT3A
1.000 0.160 2 25247104 frameshift variant CTGGTGGAAC/- delins
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		0.700 0
dbSNP: rs587777508
rs587777508
DNMT3A
1.000 0.160 2 25247676 missense variant A/T snv
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		0.800 1.000 0 2014 2017
dbSNP: rs759380437
rs759380437
DNMT3A
0.925 0.200 2 25247685 missense variant G/A;C;T snv 4.0E-06; 4.0E-06
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		0.700 0
dbSNP: rs759380437
rs759380437
DNMT3A
0.925 0.200 2 25247685 missense variant G/A;C;T snv 4.0E-06; 4.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 0
dbSNP: rs766858016
rs766858016
DNMT3A
0.882 0.200 2 25247710 stop gained T/A;G snv 4.0E-06
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs766858016
rs766858016
DNMT3A
0.882 0.200 2 25247710 stop gained T/A;G snv 4.0E-06
CUI: C0014877
Disease: Esotropia
Esotropia 		0.700 0
dbSNP: rs766858016
rs766858016
DNMT3A
0.882 0.200 2 25247710 stop gained T/A;G snv 4.0E-06
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		0.700 0
dbSNP: rs766858016
rs766858016
DNMT3A
0.882 0.200 2 25247710 stop gained T/A;G snv 4.0E-06
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 0
dbSNP: rs587777506
rs587777506
DNMT3A
1.000 0.160 2 25247714 inframe deletion CAC/- delins
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		0.700 0
dbSNP: rs1553414406
rs1553414406
DNMT3A
1.000 0.160 2 25248157 frameshift variant A/- del
CUI: C4014545
Disease: Tatton Brown Rahman syndrome
Tatton Brown Rahman syndrome 		0.700 0