"3billion"[submitter] AND "MED13"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2444160	NM_005121.3(MED13):c.3786_3787insAA (p.Pro1263fs)	MED13 (P1263fs)	Insertion (frameshift variant)	Intellectual developmental disorder 61	GLikely pathogenic
Select item 1333369	NM_005121.3(MED13):c.980C>T (p.Pro327Leu)	MED13 (P327L)	Single nucleotide variant (missense variant)	Intellectual developmental disorder 61	GUncertain significance