"Institute of Human Genetics, University Hospital Muenster"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1708384	NM_182931.3(KMT2E):c.1785_1786del (p.Arg597fs)	KMT2E (R597fs)	Microsatellite (frameshift variant)	See cases	GPathogenic
Select item 1708309	NM_182931.3(KMT2E):c.2735C>T (p.Thr912Met)	KMT2E (T912M)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2504131	NM_182931.3(KMT2E):c.4984G>C (p.Val1662Leu)	KMT2E (V1620L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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