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: rs1555377234
rs1555377234
IRF2BPL
1.000 14 77025641 frameshift variant A/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 5 2000 2017
dbSNP: rs1555377234
rs1555377234
IRF2BPL
1.000 14 77025641 frameshift variant A/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 5 2000 2017
dbSNP: rs1555377234
rs1555377234
IRF2BPL
1.000 14 77025641 frameshift variant A/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 5 2000 2017
dbSNP: rs1566785990
rs1566785990
IRF2BPL ; LOC107984638
0.851 0.120 14 77026534 missense variant A/G snv
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs1566785990
rs1566785990
IRF2BPL ; LOC107984638
0.851 0.120 14 77026534 missense variant A/G snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1566785990
rs1566785990
IRF2BPL ; LOC107984638
0.851 0.120 14 77026534 missense variant A/G snv
CUI: C4072908
Disease: Induced vaginal delivery
Induced vaginal delivery 		0.700 0
dbSNP: rs1566785990
rs1566785990
IRF2BPL ; LOC107984638
0.851 0.120 14 77026534 missense variant A/G snv
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.700 0
dbSNP: rs1566785990
rs1566785990
IRF2BPL ; LOC107984638
0.851 0.120 14 77026534 missense variant A/G snv
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		0.700 0
dbSNP: rs1566785990
rs1566785990
IRF2BPL ; LOC107984638
0.851 0.120 14 77026534 missense variant A/G snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs1566785990
rs1566785990
IRF2BPL ; LOC107984638
0.851 0.120 14 77026534 missense variant A/G snv
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		0.700 0
dbSNP: rs1566785990
rs1566785990
IRF2BPL ; LOC107984638
0.851 0.120 14 77026534 missense variant A/G snv
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		0.700 0
dbSNP: rs1566785990
rs1566785990
IRF2BPL ; LOC107984638
0.851 0.120 14 77026534 missense variant A/G snv
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.700 0
dbSNP: rs1566785990
rs1566785990
IRF2BPL ; LOC107984638
0.851 0.120 14 77026534 missense variant A/G snv
CUI: C0009806
Disease: Constipation
Constipation 		0.700 0
dbSNP: rs1566785990
rs1566785990
IRF2BPL ; LOC107984638
0.851 0.120 14 77026534 missense variant A/G snv
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		0.700 0
dbSNP: rs1566785990
rs1566785990
IRF2BPL ; LOC107984638
0.851 0.120 14 77026534 missense variant A/G snv
CUI: C0020649
Disease: Hypotension
Hypotension 		0.700 0
dbSNP: rs1566785444
rs1566785444
IRF2BPL
0.827 0.200 14 77025671 frameshift variant C/- delins
CUI: C1853738
Disease: Long eyelashes
Long eyelashes 		0.700 0
dbSNP: rs1566785444
rs1566785444
IRF2BPL
0.827 0.200 14 77025671 frameshift variant C/- delins
CUI: C4023422
Disease: Long palm
Long palm 		0.700 0
dbSNP: rs1566785444
rs1566785444
IRF2BPL
0.827 0.200 14 77025671 frameshift variant C/- delins
CUI: C0020505
Disease: Hyperphagia
Hyperphagia 		0.700 0
dbSNP: rs1566785444
rs1566785444
IRF2BPL
0.827 0.200 14 77025671 frameshift variant C/- delins
CUI: C1865304
Disease: Overfolding of the superior helices
Overfolding of the superior helices 		0.700 0
dbSNP: rs1566785444
rs1566785444
IRF2BPL
0.827 0.200 14 77025671 frameshift variant C/- delins
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.700 0
dbSNP: rs1566785444
rs1566785444
IRF2BPL
0.827 0.200 14 77025671 frameshift variant C/- delins
CUI: C1837463
Disease: Narrow face
Narrow face 		0.700 0
dbSNP: rs1566785444
rs1566785444
IRF2BPL
0.827 0.200 14 77025671 frameshift variant C/- delins
CUI: C1845251
Disease: Facial hypotonia
Facial hypotonia 		0.700 0
dbSNP: rs1566785444
rs1566785444
IRF2BPL
0.827 0.200 14 77025671 frameshift variant C/- delins
CUI: C1305740
Disease: Overbite
Overbite 		0.700 0
dbSNP: rs1566785444
rs1566785444
IRF2BPL
0.827 0.200 14 77025671 frameshift variant C/- delins
CUI: C1844548
Disease: Hypoplastic finger
Hypoplastic finger 		0.700 0
dbSNP: rs1566785444
rs1566785444
IRF2BPL
0.827 0.200 14 77025671 frameshift variant C/- delins
CUI: C1836047
Disease: Long face
Long face 		0.700 0