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: rs796052243
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins
CUI: C4225276
Disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME
EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME 		0.700 1.000 4 2015 2017
dbSNP: rs796052243
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		0.700 0
dbSNP: rs796052243
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs796052243
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.700 0
dbSNP: rs796052243
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins
CUI: C0239998
Disease: Recurrent infections
Recurrent infections 		0.700 0
dbSNP: rs796052243
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.700 0
dbSNP: rs796052243
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins
CUI: C4023014
Disease: Stereotypical hand wringing
Stereotypical hand wringing 		0.700 0
dbSNP: rs796052243
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes 		0.700 0
dbSNP: rs796052243
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins
CUI: C4021338
Disease: Broad proximal phalanx of the hallux
Broad proximal phalanx of the hallux 		0.700 0
dbSNP: rs796052243
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins
CUI: C0239815
Disease: Hand clenching
Hand clenching 		0.700 0
dbSNP: rs796052243
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins
CUI: C1836923
Disease: Gastrointestinal dysmotility
Gastrointestinal dysmotility 		0.700 0
dbSNP: rs796052243
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment 		0.700 0
dbSNP: rs796052243
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		0.700 0
dbSNP: rs796052243
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs796052243
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins
CUI: C4021734
Disease: Abnormality of mitochondrial metabolism
Abnormality of mitochondrial metabolism 		0.700 0
dbSNP: rs796052243
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		0.700 0
dbSNP: rs796052243
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins
CUI: C0521525
Disease: Short neck
Short neck 		0.700 0
dbSNP: rs796052243
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins
CUI: C1865866
Disease: Congenital sensorineural hearing loss
Congenital sensorineural hearing loss 		0.700 0
dbSNP: rs796052243
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs796052243
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins
CUI: C4073184
Disease: Thick hair
Thick hair 		0.700 0
dbSNP: rs796052243
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.700 0
dbSNP: rs796052243
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins
CUI: C0151891
Disease: Retinal depigmentation
Retinal depigmentation 		0.700 0
dbSNP: rs796052243
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		0.700 0
dbSNP: rs796052243
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		0.700 0
dbSNP: rs796052243
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins
CUI: C1844562
Disease: Medial flaring of the eyebrow
Medial flaring of the eyebrow 		0.700 0