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: 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: C0032914
Disease: Pre-Eclampsia
Pre-Eclampsia 		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: 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: 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: 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: 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: C4022786
Disease: Iron accumulation in globus pallidus
Iron accumulation in globus pallidus 		0.700 0
dbSNP: rs1555727493
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		0.700 0
dbSNP: rs1555727493
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins
CUI: C0423082
Disease: Hypometric saccades
Hypometric saccades 		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: C0238621
Disease: Aminoaciduria
Aminoaciduria 		0.700 0
dbSNP: rs1555727493
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins
CUI: C0427144
Disease: Toe-walking gait
Toe-walking gait 		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: C1820737
Disease: Temperature instability
Temperature instability 		0.700 0
dbSNP: rs1555727493
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		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: C0040433
Disease: Tooth Crowding
Tooth Crowding 		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: C0241775
Disease: Organic aciduria
Organic aciduria 		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