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: rs1057518345
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 11 2001 2017
dbSNP: rs1555809836
rs1555809836
ADNP
20 50892215 frameshift variant T/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 11 2001 2017
dbSNP: rs1555809919
rs1555809919
ADNP
1.000 20 50892427 frameshift variant A/-;AA delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 11 2001 2017
dbSNP: rs1555809919
rs1555809919
ADNP
1.000 20 50892427 frameshift variant A/-;AA delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 11 2001 2017
dbSNP: rs1555810308
rs1555810308
ADNP
1.000 20 50893377 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 11 2001 2017
dbSNP: rs587777526
rs587777526
ADNP
0.925 0.160 20 50892557 stop gained G/A;C;T snv 2.0E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 11 2001 2017
dbSNP: rs587777526
rs587777526
ADNP
0.925 0.160 20 50892557 stop gained G/A;C;T snv 2.0E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 11 2001 2017
dbSNP: rs779340209
rs779340209
ADNP
20 50892501 stop gained G/C snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 11 2001 2017
dbSNP: rs886041116
rs886041116
ADNP
0.776 0.240 20 50892526 stop gained G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 11 2001 2017
dbSNP: rs886041116
rs886041116
ADNP
0.776 0.240 20 50892526 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 11 2001 2017
dbSNP: rs587777526
rs587777526
ADNP
0.925 0.160 20 50892557 stop gained G/A;C;T snv 2.0E-05
CUI: C4014538
Disease: ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder 		0.700 1.000 2 2014 2014
dbSNP: rs587777522
rs587777522
ADNP
1.000 0.160 20 50892220 frameshift variant AATT/- delins
CUI: C4014538
Disease: ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder 		0.700 1.000 1 2014 2014
dbSNP: rs587777523
rs587777523
ADNP
1.000 0.160 20 50892215 frameshift variant TTTA/- delins
CUI: C4014538
Disease: ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder 		0.700 1.000 1 2014 2014
dbSNP: rs1057518345
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs1057518345
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C4025678
Disease: Abnormal trachea morphology
Abnormal trachea morphology 		0.700 0
dbSNP: rs1057518345
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 0
dbSNP: rs1057518345
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		0.700 0
dbSNP: rs1057518345
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C1837142
Disease: Poor suck
Poor suck 		0.700 0
dbSNP: rs1057518345
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele 		0.700 0
dbSNP: rs1057518345
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0.700 0
dbSNP: rs1057518345
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057518345
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C1834042
Disease: Hypoplasia of facial musculature
Hypoplasia of facial musculature 		0.700 0
dbSNP: rs1057518345
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C0016522
Disease: Foramen Ovale, Patent
Foramen Ovale, Patent 		0.700 0
dbSNP: rs1057518345
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		0.700 0
dbSNP: rs1057518345
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		0.700 0