C3150921[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 129600	NM_004268.5(MED17):c.195C>G (p.Gly65=)	LOC130006596, MED17	Single nucleotide variant (synonymous variant)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly +2 more	GBenign
Select item 129601	NM_004268.5(MED17):c.207G>C (p.Glu69Asp)	LOC130006596, MED17 (E69D)	Single nucleotide variant (missense variant)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly +2 more	GBenign
Select item 1180562	NM_004268.5(MED17):c.417+72C>T	MED17	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 518245	NM_004268.5(MED17):c.859+18T>C	MED17	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 129597	NM_004268.5(MED17):c.1092G>A (p.Pro364=)	MED17	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 518308	NM_004268.5(MED17):c.1329-11G>A	MED17	Single nucleotide variant (intron variant)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly +1 more	GBenign

ClinVar