"Undiagnosed Diseases Network, NIH"[submitter] AND "KMT2C"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 804252	NM_170606.3(KMT2C):c.8026C>T (p.Gln2676Ter)	KMT2C (Q2676*)	Single nucleotide variant (nonsense)	KMT2C-related condition	GPathogenic
Select item 1220536	Single allele	KMT2C	Deletion	Kleefstra syndrome 2	GUncertain significance
Select item 638598	Single allele	KMT2C	Deletion	Kleefstra syndrome 2	GLikely pathogenic

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