"3billion"[submitter] AND "KMT2C"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1320214	NM_170606.3(KMT2C):c.11812+2T>C	KMT2C	Single nucleotide variant (splice donor variant)	Kleefstra syndrome 2	GLikely pathogenic
Select item 2444087	NM_170606.3(KMT2C):c.11269_11270del (p.Gln3757fs)	KMT2C (Q3757fs)	Microsatellite (frameshift variant)	Kleefstra syndrome 2	GLikely pathogenic
Select item 1027838	NM_170606.3(KMT2C):c.10054C>G (p.Gln3352Glu)	KMT2C (Q3352E)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GConflicting classifications of pathogenicity
Select item 2444052	NM_170606.3(KMT2C):c.8252C>T (p.Ser2751Leu)	KMT2C (S2751L)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 1333298	NM_170606.3(KMT2C):c.6925C>T (p.Gln2309Ter)	KMT2C (Q2309*)	Single nucleotide variant (nonsense)	Kleefstra syndrome 2	GLikely pathogenic
Select item 1705675	NM_170606.3(KMT2C):c.6769C>T (p.Arg2257Ter)	KMT2C (R2257*)	Single nucleotide variant (nonsense)	Kleefstra syndrome 2	GLikely pathogenic
Select item 1489761	NM_170606.3(KMT2C):c.6302C>T (p.Pro2101Leu)	KMT2C (P2101L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2633116	NM_170606.3(KMT2C):c.596G>A (p.Arg199Gln)	KMT2C (R199Q)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2 +1 more	GConflicting classifications of pathogenicity

ClinVar