C4540395[trait identifier] AND "SIB Swiss Institute of Bioinformatics" - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 446224	NM_170606.3(KMT2C):c.7550C>G (p.Ser2517Ter)	KMT2C (S2517*)	Single nucleotide variant (nonsense)	KMT2C-related NDD +1 more	GPathogenic/Likely pathogenic
Select item 88895	NM_170606.3(KMT2C):c.4441C>T (p.Arg1481Ter)	KMT2C (R1481*)	Single nucleotide variant (nonsense)	Kleefstra syndrome 2 +2 more	GPathogenic/Likely pathogenic
Select item 446225	NM_170606.3(KMT2C):c.1690A>T (p.Lys564Ter)	KMT2C (K564*)	Single nucleotide variant (nonsense)	KMT2C-related NDD +1 more	GPathogenic/Likely pathogenic

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