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: rs1555729045
rs1555729045
KMT2B
19 35721772 stop gained C/T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 9 1999 2017
dbSNP: rs1555732987
rs1555732987
KMT2B
19 35732782 frameshift variant -/GCACGCCTCCTTCGGGGCCAGG delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 9 1999 2017
dbSNP: rs1555734923
rs1555734923
KMT2B
19 35738078 stop gained C/T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 9 1999 2017
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
dbSNP: rs1057519282
rs1057519282
KMT2B
1.000 19 35719502 frameshift variant -/C delins
CUI: C4310633
Disease: DYSTONIA 28, CHILDHOOD-ONSET
DYSTONIA 28, CHILDHOOD-ONSET 		0.700 0
dbSNP: rs1555727493
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins
CUI: C1850309
Disease: Mildly elevated creatine phosphokinase
Mildly elevated creatine phosphokinase 		0.700 0
dbSNP: rs1555727493
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins
CUI: C4310633
Disease: DYSTONIA 28, CHILDHOOD-ONSET
DYSTONIA 28, CHILDHOOD-ONSET 		0.700 0
dbSNP: rs1555727493
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins
CUI: C3887667
Disease: Retrocollis
Retrocollis 		0.700 0
dbSNP: rs1555727493
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins
CUI: C0581354
Disease: Recurrent sinusitis
Recurrent sinusitis 		0.700 0
dbSNP: rs1555727493
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins
CUI: C0026961
Disease: Mydriasis
Mydriasis 		0.700 0
dbSNP: rs1555727493
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins
CUI: C1836047
Disease: Long face
Long face 		0.700 0
dbSNP: rs1555727493
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.700 0
dbSNP: rs1555727493
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins
CUI: C0039239
Disease: Sinus Tachycardia
Sinus Tachycardia 		0.700 0
dbSNP: rs1555727493
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins
CUI: C0332615
Disease: Myopathic facies
Myopathic facies 		0.700 0
dbSNP: rs1555727493
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		0.700 0
dbSNP: rs1555727493
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins
CUI: C0239548
Disease: Fasciculation, Tongue
Fasciculation, Tongue 		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: rs1555727493
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins
CUI: C0234144
Disease: Dysgraphia
Dysgraphia 		0.700 0