Gene: MED13L ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555247469
rs1555247469
MED13L
C 0.700 CausalMutation CLINVAR MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism. 28371282

2017
dbSNP: rs1555247469
rs1555247469
MED13L
C 0.700 CausalMutation CLINVAR UniProt: the universal protein knowledgebase. 27899622

2017
dbSNP: rs1555247853
rs1555247853
MED13L
TGTTCGAG 0.700 CausalMutation CLINVAR UniProt: the universal protein knowledgebase. 27899622

2017
dbSNP: rs1555247853
rs1555247853
MED13L
TGTTCGAG 0.700 CausalMutation CLINVAR MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism. 28371282

2017
dbSNP: rs1555247853
rs1555247853
MED13L
TGTTCGAG 0.700 CausalMutation CLINVAR Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. 28645799

2017
dbSNP: rs1555247853
rs1555247853
MED13L
TGTTCGAG 0.700 CausalMutation CLINVAR Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes. 28588821

2017
dbSNP: rs1555248020
rs1555248020
MED13L
C 0.700 CausalMutation CLINVAR MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism. 28371282

2017
dbSNP: rs1555248020
rs1555248020
MED13L
C 0.700 CausalMutation CLINVAR UniProt: the universal protein knowledgebase. 27899622

2017
dbSNP: rs1555248020
rs1555248020
MED13L
C 0.700 CausalMutation CLINVAR Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. 28645799

2017
dbSNP: rs1555248020
rs1555248020
MED13L
C 0.700 CausalMutation CLINVAR Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes. 28588821

2017
dbSNP: rs1555240361
rs1555240361
MED13L
A 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 Redefining the MED13L syndrome. 25758992

2015
dbSNP: rs1555240361
rs1555240361
MED13L
A 0.700 CausalMutation CLINVAR Further confirmation of the MED13L haploinsufficiency syndrome. 24781760

2015
dbSNP: rs1555240376
rs1555240376
MED13L
T 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: rs1555240376
rs1555240376
MED13L
T 0.700 CausalMutation CLINVAR Redefining the MED13L syndrome. 25758992

2015
dbSNP: rs1555240376
rs1555240376
MED13L
T 0.700 CausalMutation CLINVAR Further confirmation of the MED13L haploinsufficiency syndrome. 24781760

2015
dbSNP: rs1555243099
rs1555243099
MED13L
T 0.700 GeneticVariation CLINVAR Redefining the MED13L syndrome. 25758992

2015
dbSNP: rs1555243099
rs1555243099
MED13L
T 0.700 GeneticVariation CLINVAR Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome. 25712080

2015
dbSNP: rs1555243099
rs1555243099
MED13L
T 0.700 GeneticVariation CLINVAR Further confirmation of the MED13L haploinsufficiency syndrome. 24781760

2015
dbSNP: rs1555244216
rs1555244216
MED13L
C 0.700 GeneticVariation CLINVAR Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome. 25712080

2015
dbSNP: rs1555244216
rs1555244216
MED13L
C 0.700 GeneticVariation CLINVAR Further confirmation of the MED13L haploinsufficiency syndrome. 24781760

2015
dbSNP: rs1555244216
rs1555244216
MED13L
C 0.700 GeneticVariation CLINVAR Redefining the MED13L syndrome. 25758992

2015
dbSNP: rs1555247469
rs1555247469
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: rs1555247469
rs1555247469
MED13L
C 0.700 CausalMutation CLINVAR Redefining the MED13L syndrome. 25758992

2015
dbSNP: rs1555247469
rs1555247469
MED13L
C 0.700 CausalMutation CLINVAR Further confirmation of the MED13L haploinsufficiency syndrome. 24781760

2015