"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 930481	NM_170606.3(KMT2C):c.10874C>T (p.Pro3625Leu)	KMT2C (P3625L)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 930736	NM_170606.3(KMT2C):c.4382T>C (p.Ile1461Thr)	KMT2C (I1461T)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance
Select item 931616	NM_170606.3(KMT2C):c.4030A>G (p.Ile1344Val)	KMT2C (I1344V)	Single nucleotide variant (missense variant)	Kleefstra syndrome 2	GUncertain significance

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ClinVar