C5399762[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 259633	NM_005120.3(MED12):c.205-38C>T	MED12	Single nucleotide variant (intron variant)	Blepharophimosis - intellectual disability syndrome, MKB type +4 more	GBenign/Likely benign
Select item 95257	NM_005120.3(MED12):c.736-8A>C	MED12	Single nucleotide variant (intron variant)	X-linked intellectual disability with marfanoid habitus +5 more	GBenign
Select item 259634	NM_005120.3(MED12):c.2422+30C>T	MED12	Single nucleotide variant (intron variant)	Blepharophimosis - intellectual disability syndrome, MKB type +4 more	GBenign
Select item 259636	NM_005120.3(MED12):c.3354+27G>C	MED12	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 95248	NM_005120.3(MED12):c.3930A>C (p.Pro1310=)	MED12	Single nucleotide variant (synonymous variant)	Blepharophimosis - intellectual disability syndrome, MKB type +6 more	GBenign
Select item 259637	NM_005120.3(MED12):c.4415+29T>C	MED12	Single nucleotide variant (intron variant)	not provided +4 more	GBenign

ClinVar