C0270972[trait identifier] AND "Center of Genomic medicine, Geneva, Un - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 627581	NM_133433.4(NIPBL):c.3439C>T (p.Arg1147Ter)	NIPBL (R1147*)	Single nucleotide variant (nonsense)	De Lange syndrome	GPathogenic
Select item 695033	NM_005445.4(SMC3):c.381C>G (p.Ser127Arg)	SMC3 (S127R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 695026	NM_005445.4(SMC3):c.3563G>T (p.Gly1188Val)	SMC3 (G1188V)	Single nucleotide variant (missense variant)	De Lange syndrome	GLikely pathogenic

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