MED30[gene] and "single gene"[properties] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3294073	NM_080651.4(MED30):c.13C>T (p.Pro5Ser)	MED30 (P5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331776	NM_080651.4(MED30):c.31A>G (p.Met11Val)	MED30 (M11V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294070	NM_080651.4(MED30):c.55C>A (p.Pro19Thr)	MED30 (P19T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776380	NM_080651.4(MED30):c.73G>T (p.Ala25Ser)	MED30 (A25S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3294072	NM_080651.4(MED30):c.334G>A (p.Glu112Lys)	MED30 (E112K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461138	NM_080651.4(MED30):c.419G>A (p.Arg140Gln)	MED30 (R140Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125076	NM_080651.4(MED30):c.446T>G (p.Leu149Arg)	MED30 (L114R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808025	GRCh37/hg19 8q24.11(chr8:118225218-118652188)x1	MED30	Copy number loss	not provided	GUncertain significance
Select item 979853	GRCh37/hg19 8q24.11(chr8:118513760-118636771)x4	MED30	Copy number gain	not provided	GUncertain significance

ClinVar