"Mendelics"[submitter] AND "KMT2C"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1685536	NM_170606.3(KMT2C):c.10759C>G (p.Gln3587Glu)	KMT2C (Q3587E)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 1685542	NM_170606.3(KMT2C):c.8431T>C (p.Ser2811Pro)	KMT2C (S2811P)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 1684845	NM_170606.3(KMT2C):c.8216A>C (p.Glu2739Ala)	KMT2C (E2739A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1299248	NM_170606.3(KMT2C):c.4602G>T (p.Gln1534His)	KMT2C (Q1534H)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2 +2 more	GUncertain significance
Select item 1685547	NM_170606.3(KMT2C):c.4507+5A>G	KMT2C	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1685915	NM_170606.3(KMT2C):c.2532+1del	KMT2C	Deletion (splice donor variant)	Kleefstra syndrome 2	GPathogenic
Select item 802382	NM_170606.3(KMT2C):c.162-1G>T	KMT2C	Single nucleotide variant (splice acceptor variant)	Kleefstra syndrome 2	GUncertain significance

ClinVar