C4540395[trait identifier] AND "MGZ Medical Genetics Center"[submitter - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1709318	NM_170606.3(KMT2C):c.14376G>C (p.Glu4792Asp)	KMT2C (E4792D)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 1709235	NM_170606.3(KMT2C):c.12837G>C (p.Gln4279His)	KMT2C (Q4279H)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 1710021	NM_170606.3(KMT2C):c.12666+1G>A	KMT2C	Single nucleotide variant (splice donor variant)	Kleefstra syndrome 2	GLikely pathogenic
Select item 1709075	NM_170606.3(KMT2C):c.2829_2832dup (p.Val945fs)	KMT2C (V945fs)	Duplication (frameshift variant)	Kleefstra syndrome 2	GPathogenic
Select item 1708957	NM_170606.3(KMT2C):c.52C>T (p.Pro18Ser)	KMT2C (P18S)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance

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