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: rs1555639076
rs1555639076
BPTF
0.790 0.400 17 67893677 splice donor variant A/- delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 1.000 1 2017 2017
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: rs1555693714
rs1555693714
BPTF
0.882 0.120 17 67975933 stop gained A/T snv
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		0.700 1.000 1 2017 2017
dbSNP: rs1555693714
rs1555693714
BPTF
0.882 0.120 17 67975933 stop gained A/T snv
CUI: C0431352
Disease: Secondary microcephaly
Secondary microcephaly 		0.700 1.000 1 2017 2017
dbSNP: rs1555693714
rs1555693714
BPTF
0.882 0.120 17 67975933 stop gained A/T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 1 2017 2017
dbSNP: rs1555693714
rs1555693714
BPTF
0.882 0.120 17 67975933 stop gained A/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2017 2017
dbSNP: rs1555693714
rs1555693714
BPTF
0.882 0.120 17 67975933 stop gained A/T snv
CUI: C4540327
Disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES 		0.700 0
dbSNP: rs1568070621
rs1568070621
BPTF
1.000 0.040 17 67918746 frameshift variant AG/- delins
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		0.700 0
dbSNP: rs1568070621
rs1568070621
BPTF
1.000 0.040 17 67918746 frameshift variant AG/- delins
CUI: C0086437
Disease: Joint laxity
Joint laxity 		0.700 0
dbSNP: rs1568070621
rs1568070621
BPTF
1.000 0.040 17 67918746 frameshift variant AG/- delins
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs1568070621
rs1568070621
BPTF
1.000 0.040 17 67918746 frameshift variant AG/- delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
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
dbSNP: rs1425998598
rs1425998598
BPTF
0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		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: C0401151
Disease: Chronic diarrhea
Chronic diarrhea 		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: C0557874
Disease: Global developmental delay
Global developmental 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: C0271183
Disease: Severe myopia
Severe myopia 		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: C4024855
Disease: Lack of subcutaneous fatty tissue
Lack of subcutaneous fatty tissue 		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: C1867131
Disease: Broad hallux
Broad hallux 		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: C0920299
Disease: Overriding toe
Overriding toe 		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: C0431352
Disease: Secondary microcephaly
Secondary microcephaly 		0.700 1.000 1 2017 2017