Gene: MED13L ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555247853
rs1555247853
MED13L
TGTTCGAG 0.700 CausalMutation CLINVAR Further confirmation of the MED13L haploinsufficiency syndrome. 24781760

2015
dbSNP: rs1555247853
rs1555247853
MED13L
TGTTCGAG 0.700 CausalMutation CLINVAR Redefining the MED13L syndrome. 25758992

2015
dbSNP: rs1555247853
rs1555247853
MED13L
TGTTCGAG 0.700 CausalMutation CLINVAR Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome. 25712080

2015
dbSNP: rs1555248020
rs1555248020
MED13L
C 0.700 CausalMutation CLINVAR Redefining the MED13L syndrome. 25758992

2015
dbSNP: rs1555248020
rs1555248020
MED13L
C 0.700 CausalMutation CLINVAR Further confirmation of the MED13L haploinsufficiency syndrome. 24781760

2015
dbSNP: rs1555248020
rs1555248020
MED13L
C 0.700 CausalMutation CLINVAR Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome. 25712080

2015
dbSNP: rs1555240361
rs1555240361
MED13L
A 0.700 CausalMutation CLINVAR Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency. 25137640

2014
dbSNP: rs1555240361
rs1555240361
MED13L
A 0.700 CausalMutation CLINVAR De novo mutations in moderate or severe intellectual disability. 25356899

2014
dbSNP: rs1555240361
rs1555240361
MED13L
A 0.700 CausalMutation CLINVAR Genome sequencing identifies major causes of severe intellectual disability. 24896178

2014
dbSNP: rs1555240361
rs1555240361
MED13L
A 0.700 CausalMutation CLINVAR Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. 25167861

2014
dbSNP: rs1555240376
rs1555240376
MED13L
T 0.700 CausalMutation CLINVAR De novo mutations in moderate or severe intellectual disability. 25356899

2014
dbSNP: rs1555240376
rs1555240376
MED13L
T 0.700 CausalMutation CLINVAR Genome sequencing identifies major causes of severe intellectual disability. 24896178

2014
dbSNP: rs1555240376
rs1555240376
MED13L
T 0.700 CausalMutation CLINVAR Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency. 25137640

2014
dbSNP: rs1555240376
rs1555240376
MED13L
T 0.700 CausalMutation CLINVAR Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. 25167861

2014
dbSNP: rs1555243099
rs1555243099
MED13L
T 0.700 GeneticVariation CLINVAR Genome sequencing identifies major causes of severe intellectual disability. 24896178

2014
dbSNP: rs1555243099
rs1555243099
MED13L
T 0.700 GeneticVariation CLINVAR De novo mutations in moderate or severe intellectual disability. 25356899

2014
dbSNP: rs1555243099
rs1555243099
MED13L
T 0.700 GeneticVariation CLINVAR Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency. 25137640

2014
dbSNP: rs1555243099
rs1555243099
MED13L
T 0.700 GeneticVariation CLINVAR Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. 25167861

2014
dbSNP: rs1555244216
rs1555244216
MED13L
C 0.700 GeneticVariation CLINVAR Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency. 25137640

2014
dbSNP: rs1555244216
rs1555244216
MED13L
C 0.700 GeneticVariation CLINVAR Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. 25167861

2014
dbSNP: rs1555244216
rs1555244216
MED13L
C 0.700 GeneticVariation CLINVAR De novo mutations in moderate or severe intellectual disability. 25356899

2014
dbSNP: rs1555244216
rs1555244216
MED13L
C 0.700 GeneticVariation CLINVAR Genome sequencing identifies major causes of severe intellectual disability. 24896178

2014
dbSNP: rs1555247469
rs1555247469
MED13L
C 0.700 CausalMutation CLINVAR Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency. 25137640

2014
dbSNP: rs1555247469
rs1555247469
MED13L
C 0.700 CausalMutation CLINVAR De novo mutations in moderate or severe intellectual disability. 25356899

2014
dbSNP: rs1555247469
rs1555247469
MED13L
C 0.700 CausalMutation CLINVAR Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. 25167861

2014