C5193138[trait identifier] AND "MGZ Medical Genetics Center"[submitter - 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 1709671	NM_182931.3(KMT2E):c.1349A>G (p.Tyr450Cys)	KMT2E (Y450C)	Single nucleotide variant (missense variant)	O'Donnell-Luria-Rodan syndrome +1 more	GUncertain significance
Select item 1709347	NM_182931.3(KMT2E):c.2793T>G (p.Tyr931Ter)	KMT2E (Y931*)	Single nucleotide variant (nonsense)	O'Donnell-Luria-Rodan syndrome	GLikely pathogenic
Select item 1709654	NM_182931.3(KMT2E):c.3853dup (p.Ser1285fs)	KMT2E (S1285fs)	Duplication (frameshift variant)	O'Donnell-Luria-Rodan syndrome	GPathogenic

Format

Sort by

Choose Destination