"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1297033	NM_170606.3(KMT2C):c.13583A>T (p.Gln4528Leu)	KMT2C (Q4528L)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 982790	NM_170606.3(KMT2C):c.11651C>T (p.Thr3884Met)	KMT2C (T3884M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1285403	NM_170606.3(KMT2C):c.10931C>T (p.Pro3644Leu)	KMT2C (P3644L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 982956	NM_170606.3(KMT2C):c.8045C>T (p.Ser2682Phe)	KMT2C (S2682F)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 982818	NM_170606.3(KMT2C):c.7207C>T (p.Arg2403Ter)	KMT2C (R2403*)	Single nucleotide variant (nonsense)	Neurodevelopmental delay +1 more	GConflicting classifications of pathogenicity
Select item 982955	NM_170606.3(KMT2C):c.6589C>T (p.Gln2197Ter)	KMT2C (Q2197*)	Single nucleotide variant (nonsense)	Kleefstra syndrome 2	GUncertain significance
Select item 982915	NM_170606.3(KMT2C):c.5088dup (p.Ala1697fs)	KMT2C (A1697fs)	Duplication (frameshift variant)	Kleefstra syndrome 2	GLikely pathogenic
Select item 3024389	NM_170606.3(KMT2C):c.2983A>G (p.Lys995Glu)	KMT2C (K995E)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 817245	NM_170606.3(KMT2C):c.1829_1830del (p.Thr610fs)	KMT2C (T610fs)	Deletion (frameshift variant)	Kleefstra syndrome 2 +1 more	GPathogenic
Select item 3024535	NM_170606.3(KMT2C):c.749G>A (p.Trp250Ter)	KMT2C (W250*)	Single nucleotide variant (nonsense)	Kleefstra syndrome 2	GLikely pathogenic
Select item 1330211	GRCh37/hg19 7q36.1(chr7:150745923-152373214)x1	ABCF2, AGAP3 +19 more	Copy number loss	Kleefstra syndrome 2	GPathogenic