"Revvity Omics, Revvity"[submitter] AND "MED13"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2433701	NM_005121.3(MED13):c.4631C>G (p.Ser1544Cys)	MED13 (S1544C)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 1308135	NM_005121.3(MED13):c.4160G>A (p.Ser1387Asn)	MED13 (S1387N)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61 +1 more	GConflicting classifications of pathogenicity
Select item 2433698	NM_005121.3(MED13):c.3719G>A (p.Arg1240His)	MED13 (R1240H)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 2433702	NM_005121.3(MED13):c.3389T>C (p.Met1130Thr)	MED13 (M1130T)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 996866	NM_005121.3(MED13):c.2291G>A (p.Arg764His)	MED13 (R764H)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 2433697	NM_005121.3(MED13):c.1489C>G (p.Leu497Val)	MED13 (L497V)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 2433700	NM_005121.3(MED13):c.749C>G (p.Ser250Cys)	MED13 (S250C)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 2441979	NM_005121.3(MED13):c.700G>A (p.Gly234Ser)	MED13 (G234S)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance
Select item 2689415	NM_005121.3(MED13):c.694T>A (p.Leu232Ile)	MED13 (L232I)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance