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: rs1057519727
rs1057519727
HERC2
15 28260829 missense variant A/G snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2013 2013
dbSNP: rs752908306
rs752908306
HERC2
15 28272372 missense variant G/A;C snv 8.0E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2013 2013
dbSNP: rs12913832
rs12913832
HERC2
0.763 0.200 15 28120472 intron variant A/G snv 0.50
CUI: C1856895
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1 		0.700 0
dbSNP: rs1555415658
rs1555415658
HERC2
1.000 15 28175633 stop gained A/T snv
CUI: C3809753
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 		0.700 0
dbSNP: rs1667394
rs1667394
HERC2
15 28285036 intron variant C/A;T snv
CUI: C1856895
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1 		0.700 0
dbSNP: rs397518474
rs397518474
HERC2
1.000 15 28265707 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C3809753
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 		0.800 1.000 0 2012 2012
dbSNP: rs916977
rs916977
HERC2
1.000 0.080 15 28268218 intron variant T/C;G snv
CUI: C1856895
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1 		0.700 0
dbSNP: rs1057518934
rs1057518934
HERC2
0.851 0.240 15 28211095 frameshift variant G/- delins
CUI: C0241816
Disease: Global brain atrophy
Global brain atrophy 		0.700 0
dbSNP: rs1057518934
rs1057518934
HERC2
0.851 0.240 15 28211095 frameshift variant G/- delins
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		0.700 0
dbSNP: rs1057518934
rs1057518934
HERC2
0.851 0.240 15 28211095 frameshift variant G/- delins
CUI: C1854301
Disease: Motor delay
Motor delay 		0.700 0
dbSNP: rs1057518934
rs1057518934
HERC2
0.851 0.240 15 28211095 frameshift variant G/- delins
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.700 0
dbSNP: rs1057518934
rs1057518934
HERC2
0.851 0.240 15 28211095 frameshift variant G/- delins
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		0.700 0
dbSNP: rs1057518934
rs1057518934
HERC2
0.851 0.240 15 28211095 frameshift variant G/- delins
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs1057518934
rs1057518934
HERC2
0.851 0.240 15 28211095 frameshift variant G/- delins
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		0.700 0
dbSNP: rs1057518934
rs1057518934
HERC2
0.851 0.240 15 28211095 frameshift variant G/- delins
CUI: C0221166
Disease: Paraparesis
Paraparesis 		0.700 0
dbSNP: rs1555444543
rs1555444543
HERC2
15 28260816 inframe deletion GTCCAGTCCTGGCAA/- del
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 2 2006 2013