List of variants in gene MED12 reported as uncertain significance for X-linked intellectual disability with marfanoid habitus; FG syndrome 1; Cholestasis-pigmentary retinopathy-cleft palate syndrome; Blepharophimosis - intellectual disability syndrome, MKB type

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_005120.3(MED12):c.2849+14C>T	rs398124196	0.00003
NM_005120.3(MED12):c.439G>A (p.Ala147Thr)	rs748453083	0.00002
NM_005120.3(MED12):c.6076A>G (p.Met2026Val)	rs1294140756	0.00002
NM_005120.3(MED12):c.4159A>G (p.Ile1387Val)	rs1366165823	0.00001
NM_005120.3(MED12):c.3760G>A (p.Gly1254Arg)	rs1459632977
NM_005120.3(MED12):c.4022G>A (p.Arg1341Gln)
NM_005120.3(MED12):c.6062_6094del (p.Leu2021_Thr2031del)
NM_005120.3(MED12):c.616C>T (p.Arg206Trp)
NM_005120.3(MED12):c.6397_6408delTCCCAGCCCCAG (p.Ser2133_Gln2136del)

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