Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1034395178
rs1034395178
LZTR1
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		A 0.700 CausalMutation CLINVAR Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 29469822

2018
dbSNP: rs1043679457
rs1043679457
ERCC8
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		G 0.700 CausalMutation CLINVAR

dbSNP: rs104894396
rs104894396
GJB2
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518644
rs1057518644
HGSNAT
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518781
rs1057518781
MCOLN1
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518782
rs1057518782
MCOLN1 ; LOC105372261
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518786
rs1057518786
SYNGAP1
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518918
rs1057518918
ARID1B
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518926
rs1057518926
FOXP1
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518950
rs1057518950
TPO
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518961
rs1057518961
DYNC1H1
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519429
rs1057519429
CACNA1A
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519440
rs1057519440
GSPT2
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1060499733
rs1060499733
DHX30
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1060503383
rs1060503383
SYNGAP1
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307451
rs1085307451
DHX30 ; MIR1226
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1085307993
rs1085307993
GABRB2
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1085308051
rs1085308051
PTEN
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1131691771
rs1131691771
PHIP ; IRAK1BP1
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1131692227
rs1131692227
KDM5C
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1131692228
rs1131692228
ACTL6B
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1131692231
rs1131692231
CYFIP2
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1131692270
rs1131692270
POGZ
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1131692272
rs1131692272
AFF3
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1135402760
rs1135402760
BRSK2
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		C 0.700 GeneticVariation CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638

2019