"Mendelics"[submitter] AND "KMT2E"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 617565	NM_182931.3(KMT2E):c.1776_1780del (p.Lys593fs)	KMT2E (K593fs)	Deletion (frameshift variant)	See cases +2 more	GPathogenic/Likely pathogenic
Select item 1684847	NM_182931.3(KMT2E):c.3005G>C (p.Ser1002Thr)	KMT2E (S1002T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 617564	NM_182931.3(KMT2E):c.3070C>T (p.Gln1024Ter)	KMT2E (Q1024*)	Single nucleotide variant (nonsense)	See cases	GLikely pathogenic
Select item 1685563	NM_182931.3(KMT2E):c.3339A>C (p.Arg1113Ser)	KMT2E (R1113S)	Single nucleotide variant (missense variant)	not specified	GBenign

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