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: C1849097
Disease: Loss of ability to walk
Loss of ability to walk 		0.700 0
dbSNP: rs1555727493
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins
CUI: C1857304
Disease: Flexion contracture of finger
Flexion contracture of finger 		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: C4551676
Disease: Laryngismus stridulus
Laryngismus stridulus 		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: C1848954
Disease: Generalized dystonia
Generalized dystonia 		0.700 0
dbSNP: rs1555727493
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.700 0
dbSNP: rs1555727493
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		0.700 0
dbSNP: rs1555727493
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins
CUI: C4023452
Disease: Elevated C-reactive protein level
Elevated C-reactive protein level 		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: C0039239
Disease: Sinus Tachycardia
Sinus Tachycardia 		0.700 0
dbSNP: rs1555727493
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins
CUI: C1848459
Disease: High nonceruloplasmin-bound serum copper
High nonceruloplasmin-bound serum copper 		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: 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: 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: C0581354
Disease: Recurrent sinusitis
Recurrent sinusitis 		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: C0239548
Disease: Fasciculation, Tongue
Fasciculation, Tongue 		0.700 0
dbSNP: rs1555727493
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins
CUI: C0032914
Disease: Pre-Eclampsia
Pre-Eclampsia 		0.700 0
dbSNP: rs1555727493
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins
CUI: C0311468
Disease: Increased bilirubin level (finding)
Increased bilirubin level (finding) 		0.700 0
dbSNP: rs1555727493
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins
CUI: C0151818
Disease: Opisthotonus
Opisthotonus 		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: 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: C4022785
Disease: Iron accumulation in substantia nigra
Iron accumulation in substantia nigra 		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