"Centogene AG - the Rare Disease Company"[submitter] AND "KMT2B"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 974897	NM_014727.3(KMT2B):c.1205del (p.Pro402fs)	KMT2B (P402fs)	Deletion (frameshift variant)	Dystonia 28, childhood-onset	GLikely pathogenic
Select item 1333975	NM_014727.3(KMT2B):c.3014G>A (p.Cys1005Tyr)	KMT2B (C1005Y)	Single nucleotide variant (missense variant)	Dystonia 28, childhood-onset	GUncertain significance