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: rs878854416
rs878854416
HECW2
1.000 2 196242162 missense variant C/T snv
CUI: C4310643
Disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE 		0.800 1.000 0 2017 2017
dbSNP: rs878854417
rs878854417
HECW2
1.000 2 196225800 missense variant G/A snv
CUI: C4310643
Disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE 		0.800 1.000 0 2017 2017
dbSNP: rs878854422
rs878854422
HECW2
1.000 2 196242157 missense variant A/C snv
CUI: C4310643
Disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE 		0.800 1.000 0 2017 2017
dbSNP: rs1553629086
rs1553629086
HECW2
1.000 2 196201282 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 10 2005 2017
dbSNP: rs1553629086
rs1553629086
HECW2
1.000 2 196201282 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 10 2005 2017
dbSNP: rs1553633403
rs1553633403
HECW2
1.000 2 196225799 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 10 2005 2017