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: rs1555727493
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins
CUI: C0238621
Disease: Aminoaciduria
Aminoaciduria 		0.700 0
dbSNP: rs1555727493
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins
CUI: C0234517
Disease: Anarthria speech disorder
Anarthria speech disorder 		0.700 0
dbSNP: rs1555727493
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins
CUI: C0032290
Disease: Aspiration Pneumonia
Aspiration Pneumonia 		0.700 0
dbSNP: rs1555727493
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins
CUI: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal 		0.700 0
dbSNP: rs1555727493
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.700 0
dbSNP: rs1555731819
rs1555731819
KMT2B
0.807 0.200 19 35729980 missense variant G/T snv
CUI: C0233565
Disease: Bradykinesia
Bradykinesia 		0.700 0
dbSNP: rs1555727493
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.700 0
dbSNP: rs1555731819
rs1555731819
KMT2B
0.807 0.200 19 35729980 missense variant G/T snv
CUI: C0008489
Disease: Chorea
Chorea 		0.700 0
dbSNP: rs1555731819
rs1555731819
KMT2B
0.807 0.200 19 35729980 missense variant G/T snv
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		0.700 0
dbSNP: rs1555727493
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins
CUI: C0233844
Disease: Clumsiness
Clumsiness 		0.700 0
dbSNP: rs1555727493
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.700 0
dbSNP: rs1555727493
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins
CUI: C0013132
Disease: Drooling
Drooling 		0.700 0
dbSNP: rs1555731819
rs1555731819
KMT2B
0.807 0.200 19 35729980 missense variant G/T snv
CUI: C0454596
Disease: Dysarthria, Spastic
Dysarthria, Spastic 		0.700 0
dbSNP: rs1555727493
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins
CUI: C0234144
Disease: Dysgraphia
Dysgraphia 		0.700 0
dbSNP: rs1555731819
rs1555731819
KMT2B
0.807 0.200 19 35729980 missense variant G/T snv
CUI: C0752210
Disease: Dyskinesias, Paroxysmal
Dyskinesias, Paroxysmal 		0.700 0
dbSNP: rs1555731819
rs1555731819
KMT2B
0.807 0.200 19 35729980 missense variant G/T snv
CUI: C1527344
Disease: Dysphonia
Dysphonia 		0.700 0
dbSNP: rs1555731819
rs1555731819
KMT2B
0.807 0.200 19 35729980 missense variant G/T snv
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 0
dbSNP: rs1057519279
rs1057519279
KMT2B
1.000 19 35720980 stop gained C/T snv
CUI: C4310633
Disease: DYSTONIA 28, CHILDHOOD-ONSET
DYSTONIA 28, CHILDHOOD-ONSET 		0.700 1.000 1 2016 2016
dbSNP: rs1057519281
rs1057519281
KMT2B
1.000 19 35721775 stop gained C/T snv
CUI: C4310633
Disease: DYSTONIA 28, CHILDHOOD-ONSET
DYSTONIA 28, CHILDHOOD-ONSET 		0.700 1.000 1 2016 2016
dbSNP: rs1057519283
rs1057519283
KMT2B
1.000 19 35721037 stop gained C/T snv
CUI: C4310633
Disease: DYSTONIA 28, CHILDHOOD-ONSET
DYSTONIA 28, CHILDHOOD-ONSET 		0.700 1.000 1 2017 2017
dbSNP: rs1057519284
rs1057519284
KMT2B
1.000 19 35728145 stop gained C/A;T snv
CUI: C4310633
Disease: DYSTONIA 28, CHILDHOOD-ONSET
DYSTONIA 28, CHILDHOOD-ONSET 		0.700 1.000 1 2017 2017
dbSNP: rs1568377293
rs1568377293
KMT2B
1.000 19 35728824 missense variant C/T snv
CUI: C4310633
Disease: DYSTONIA 28, CHILDHOOD-ONSET
DYSTONIA 28, CHILDHOOD-ONSET 		0.700 1.000 1 2017 2017
dbSNP: rs779863547
rs779863547
KMT2B
1.000 19 35730766 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C4310633
Disease: DYSTONIA 28, CHILDHOOD-ONSET
DYSTONIA 28, CHILDHOOD-ONSET 		0.700 1.000 1 2017 2017
dbSNP: rs1057519278
rs1057519278
KMT2B
1.000 19 35732955 frameshift variant C/- del
CUI: C4310633
Disease: DYSTONIA 28, CHILDHOOD-ONSET
DYSTONIA 28, CHILDHOOD-ONSET 		0.700 0
dbSNP: rs1057519280
rs1057519280
KMT2B
1.000 19 35733761 splice acceptor variant A/G snv
CUI: C4310633
Disease: DYSTONIA 28, CHILDHOOD-ONSET
DYSTONIA 28, CHILDHOOD-ONSET 		0.700 0