"Baylor Genetics"[submitter] AND "KMT2C"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582522	NM_170606.3(KMT2C):c.13364G>A (p.Arg4455Lys)	KMT2C (R4455K)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 1033180	NM_170606.3(KMT2C):c.13198C>T (p.Arg4400Trp)	KMT2C (R4400W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1027840	NM_170606.3(KMT2C):c.10789A>G (p.Ile3597Val)	KMT2C (I3597V)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 2582615	NM_170606.3(KMT2C):c.10300dup (p.His3434fs)	KMT2C (H3434fs)	Duplication (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 1027844	NM_170606.3(KMT2C):c.9905C>T (p.Pro3302Leu)	KMT2C (P3302L)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 1033181	NM_170606.3(KMT2C):c.8543del (p.Asn2848fs)	KMT2C (N2848fs)	Deletion (frameshift variant)	Kleefstra syndrome 1 +2 more	GPathogenic
Select item 2442035	NM_170606.3(KMT2C):c.8284C>G (p.Pro2762Ala)	KMT2C (P2762A)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 3238831	NM_170606.3(KMT2C):c.6875del (p.Pro2292fs)	KMT2C (P2292fs)	Deletion (frameshift variant)	Kleefstra syndrome 2	GLikely pathogenic
Select item 1027843	NM_170606.3(KMT2C):c.6638G>C (p.Gly2213Ala)	KMT2C (G2213A)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 561044	NM_170606.3(KMT2C):c.3917A>G (p.Asp1306Gly)	KMT2C (D1306G)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2441894	NM_170606.3(KMT2C):c.2776A>C (p.Thr926Pro)	KMT2C (T926P)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 1027841	NM_170606.3(KMT2C):c.1522C>G (p.Leu508Val)	KMT2C (L508V)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 1027842	NM_170606.3(KMT2C):c.577A>G (p.Arg193Gly)	KMT2C (R193G)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 561045	NM_170606.3(KMT2C):c.560C>G (p.Ser187Ter)	KMT2C (S187*)	Single nucleotide variant (nonsense)	Intellectual disability	GPathogenic
Select item 2441910	NM_170606.3(KMT2C):c.303C>G (p.Ser101Arg)	KMT2C (S101R)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic