"Baylor Genetics"[submitter] AND "MED17"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1029810	NM_004268.5(MED17):c.302A>G (p.Asn101Ser)	MED17 (N101S)	Single nucleotide variant (missense variant)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly +1 more	GUncertain significance
Select item 1285434	NM_004268.5(MED17):c.490G>A (p.Ala164Thr)	MED17 (A164T)	Single nucleotide variant (missense variant)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	GUncertain significance
Select item 990616	NM_004268.5(MED17):c.1223C>G (p.Ser408Trp)	MED17 (S408W)	Single nucleotide variant (missense variant)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	GUncertain significance
Select item 1029809	NM_004268.5(MED17):c.1298A>T (p.Lys433Ile)	MED17 (K433I)	Single nucleotide variant (missense variant)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	GUncertain significance
Select item 211480	NM_004268.5(MED17):c.1449C>G (p.Gly483=)	MED17	Single nucleotide variant (synonymous variant)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly +2 more	GConflicting classifications of pathogenicity
Select item 2441702	NM_004268.5(MED17):c.1747C>T (p.Arg583Cys)	MED17 (R583C)	Single nucleotide variant (missense variant)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	GUncertain significance

ClinVar