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: rs753044214
rs753044214
BPTF
1.000 17 67903835 frameshift variant A/-;AA delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 19 1995 2017
dbSNP: rs753044214
rs753044214
BPTF
1.000 17 67903835 frameshift variant A/-;AA delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 19 1995 2017
dbSNP: rs1135401778
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C0431352
Disease: Secondary microcephaly
Secondary microcephaly 		0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C0431663
Disease: Bilateral Cryptorchidism
Bilateral Cryptorchidism 		0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C4024956
Disease: Grammar-specific speech disorder
Grammar-specific speech disorder 		0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C0344541
Disease: Persistent pupillary membranes
Persistent pupillary membranes 		0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C0041834
Disease: Erythema
Erythema 		0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C0086543
Disease: Cataract
Cataract 		0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C4023408
Disease: Abnormality of mouth size
Abnormality of mouth size 		0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C1840069
Disease: Sandal gap
Sandal gap 		0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C2673431
Disease: Abnormality of the periventricular white matter
Abnormality of the periventricular white matter 		0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C4024963
Disease: Abnormal aggressive, impulsive or violent behavior
Abnormal aggressive, impulsive or violent behavior 		0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C1839798
Disease: Long nose
Long nose 		0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C0004134
Disease: Ataxia
Ataxia 		0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.700 1.000 1 2017 2017
dbSNP: rs1425998598
rs1425998598
BPTF
0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05
CUI: C1851883
Disease: Small, conical teeth
Small, conical teeth 		0.700 1.000 1 2017 2017
dbSNP: rs1425998598
rs1425998598
BPTF
0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		0.700 1.000 1 2017 2017
dbSNP: rs1425998598
rs1425998598
BPTF
0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency 		0.700 1.000 1 2017 2017
dbSNP: rs1425998598
rs1425998598
BPTF
0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		0.700 1.000 1 2017 2017
dbSNP: rs1425998598
rs1425998598
BPTF
0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 1.000 1 2017 2017