Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397518474
rs397518474
HERC2
CUI: C3809753
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 		A 0.800 CausalMutation CLINVAR

dbSNP: rs1057518934
rs1057518934
HERC2
CUI: C1854301
Disease: Motor delay
Motor delay 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518934
rs1057518934
HERC2
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518934
rs1057518934
HERC2
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518934
rs1057518934
HERC2
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518934
rs1057518934
HERC2
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518934
rs1057518934
HERC2
CUI: C0241816
Disease: Global brain atrophy
Global brain atrophy 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518934
rs1057518934
HERC2
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518934
rs1057518934
HERC2
CUI: C0221166
Disease: Paraparesis
Paraparesis 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057519727
rs1057519727
HERC2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		G 0.700 CausalMutation CLINVAR Activating HER2 mutations in HER2 gene amplification negative breast cancer. 23220880

2013
dbSNP: rs12913832
rs12913832
HERC2
CUI: C1856895
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555415658
rs1555415658
HERC2
CUI: C3809753
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555444543
rs1555444543
HERC2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		T 0.700 CausalMutation CLINVAR Activating HER2 mutations in HER2 gene amplification negative breast cancer. 23220880

2013
dbSNP: rs1555444543
rs1555444543
HERC2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		T 0.700 CausalMutation CLINVAR Somatic mutations of ERBB2 kinase domain in gastric, colorectal, and breast carcinomas. 16397024

2006
dbSNP: rs1667394
rs1667394
HERC2
CUI: C1856895
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs752908306
rs752908306
HERC2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		C 0.700 CausalMutation CLINVAR Activating HER2 mutations in HER2 gene amplification negative breast cancer. 23220880

2013
dbSNP: rs916977
rs916977
HERC2
CUI: C1856895
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1 		C 0.700 GeneticVariation CLINVAR