Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs866294686
rs866294686
TRIM8 ; LOC105378460
CUI: C0025990
Disease: Micrognathism
Micrognathism 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs797045412
rs797045412
BICD2
CUI: C0025990
Disease: Micrognathism
Micrognathism 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs782736894
rs782736894
BPTF
CUI: C0025990
Disease: Micrognathism
Micrognathism 		G 0.700 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
dbSNP: rs753317536
rs753317536
EVC
CUI: C0025990
Disease: Micrognathism
Micrognathism 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs730882245
rs730882245
KIAA1109
CUI: C0025990
Disease: Micrognathism
Micrognathism 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs431905509
rs431905509
SLC25A1
CUI: C0025990
Disease: Micrognathism
Micrognathism 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs28934908
rs28934908
MECP2
CUI: C0025990
Disease: Micrognathism
Micrognathism 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1569509136
rs1569509136
HUWE1
CUI: C0025990
Disease: Micrognathism
Micrognathism 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1569309484
rs1569309484
RLIM
CUI: C0025990
Disease: Micrognathism
Micrognathism 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1566785444
rs1566785444
IRF2BPL
CUI: C0025990
Disease: Micrognathism
Micrognathism 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1563686762
rs1563686762
RAD21 ; UTP23
CUI: C0025990
Disease: Micrognathism
Micrognathism 		C 0.700 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677

2019
dbSNP: rs1558939623
rs1558939623
CHN1
CUI: C0025990
Disease: Micrognathism
Micrognathism 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555731819
rs1555731819
KMT2B
CUI: C0025990
Disease: Micrognathism
Micrognathism 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1554333853
rs1554333853
CDK13
CUI: C0025990
Disease: Micrognathism
Micrognathism 		G 0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008

2017
dbSNP: rs1554208945
rs1554208945
ZNF292
CUI: C0025990
Disease: Micrognathism
Micrognathism 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1553761113
rs1553761113
ATR
CUI: C0025990
Disease: Micrognathism
Micrognathism 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553621496
rs1553621496
UNC80
CUI: C0025990
Disease: Micrognathism
Micrognathism 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553538917
rs1553538917
SATB2
CUI: C0025990
Disease: Micrognathism
Micrognathism 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1481733213
rs1481733213
ATR
CUI: C0025990
Disease: Micrognathism
Micrognathism 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1135402761
rs1135402761
SYT1
CUI: C0025990
Disease: Micrognathism
Micrognathism 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519381
rs1057519381
MED12
CUI: C0025990
Disease: Micrognathism
Micrognathism 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518914
rs1057518914
RPS6KA3
CUI: C0025990
Disease: Micrognathism
Micrognathism 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518681
rs1057518681
PUF60 ; SCRIB
CUI: C0025990
Disease: Micrognathism
Micrognathism 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs886043994
rs886043994
ASXL1
CUI: C0025990
Disease: Micrognathism
Micrognathism 		T 0.700 CausalMutation CLINVAR

dbSNP: rs878853250
rs878853250
SCN8A
CUI: C0025990
Disease: Micrognathism
Micrognathism 		C 0.700 CausalMutation CLINVAR