Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
CUI: C0521525
Disease: Short neck
Short neck 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1060505041
rs1060505041
NACC1
CUI: C0521525
Disease: Short neck
Short neck 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1064795104
rs1064795104
EXOC6B
CUI: C0521525
Disease: Short neck
Short neck 		C 0.700 GeneticVariation CLINVAR Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. 25256811

2014
dbSNP: rs1064795104
rs1064795104
EXOC6B
CUI: C0521525
Disease: Short neck
Short neck 		C 0.700 GeneticVariation CLINVAR Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation. 23422942

2013
dbSNP: rs1135401744
rs1135401744
KYNU
CUI: C0521525
Disease: Short neck
Short neck 		T 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876

2017
dbSNP: rs121913528
rs121913528
KRAS
CUI: C0521525
Disease: Short neck
Short neck 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs121918494
rs121918494
FGFR2
CUI: C0521525
Disease: Short neck
Short neck 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
CUI: C0521525
Disease: Short neck
Short neck 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1554110735
rs1554110735
TFAP2A
CUI: C0521525
Disease: Short neck
Short neck 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1561873941
rs1561873941
CUL7
CUI: C0521525
Disease: Short neck
Short neck 		C 0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019
dbSNP: rs1561881909
rs1561881909
CUL7 ; KLC4
CUI: C0521525
Disease: Short neck
Short neck 		A 0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019
dbSNP: rs1561898352
rs1561898352
CUL7 ; KLC4
CUI: C0521525
Disease: Short neck
Short neck 		CA 0.700 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019
dbSNP: rs1567552713
rs1567552713
MYH3
CUI: C0521525
Disease: Short neck
Short neck 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1567558314
rs1567558314
MYH3
CUI: C0521525
Disease: Short neck
Short neck 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1567564042
rs1567564042
MYH3
CUI: C0521525
Disease: Short neck
Short neck 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1569301036
rs1569301036
TAF1
CUI: C0521525
Disease: Short neck
Short neck 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1569509136
rs1569509136
HUWE1
CUI: C0521525
Disease: Short neck
Short neck 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1569518070
rs1569518070
COL6A1
CUI: C0521525
Disease: Short neck
Short neck 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs180177035
rs180177035
BRAF
CUI: C0521525
Disease: Short neck
Short neck 		C 0.700 CausalMutation CLINVAR

dbSNP: rs397507520
rs397507520
PTPN11
CUI: C0521525
Disease: Short neck
Short neck 		C 0.700 CausalMutation CLINVAR

dbSNP: rs397517148
rs397517148
SOS1
CUI: C0521525
Disease: Short neck
Short neck 		T 0.700 CausalMutation CLINVAR

dbSNP: rs557849165
rs557849165
MYH3
CUI: C0521525
Disease: Short neck
Short neck 		T 0.700 CausalMutation CLINVAR

dbSNP: rs587783446
rs587783446
CHD7
CUI: C0521525
Disease: Short neck
Short neck 		T 0.700 CausalMutation CLINVAR

dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
CUI: C0521525
Disease: Short neck
Short neck 		A 0.700 CausalMutation CLINVAR

dbSNP: rs672601334
rs672601334
RIT1
CUI: C0521525
Disease: Short neck
Short neck 		C 0.700 CausalMutation CLINVAR