Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs776679653
rs776679653
ISCA1
T 0.700 CausalMutation CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563

2017
dbSNP: rs386834034
rs386834034
TSPAN1 ; POMGNT1
A 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
dbSNP: rs864309676
rs864309676
STX7
G 0.700 GeneticVariation CLINVAR Mosaic parental germline mutations causing recurrent forms of malformations of cortical development. 26395554

2016
dbSNP: rs1561273261
rs1561273261
KIF2A ; DIMT1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1567815105
rs1567815105
ADGRG1
GT 0.700 CausalMutation CLINVAR

dbSNP: rs199422173
rs199422173
ASPM
T 0.700 CausalMutation CLINVAR

dbSNP: rs797045412
rs797045412
BICD2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs180758272
rs180758272
KIF7
0.010 GeneticVariation BEFREE An eight year old female with severe developmental delays, epilepsy, left postaxial polydactyly of the hand and abnormalities of brain development including hydrocephalus, pachygyria and absence of the body and splenium of the corpus callous was a compound heterozygote for c.461G > A, predicting p.(Arg154Gln) and c.2959 G > A, predicting p.(Glu987Lys) that was maternally inherited and her father was unavailable for testing. 26174511

2015