"MVZ Medizinische Genetik Mainz"[submitter] AND "SMC3"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061883	NM_005445.4(SMC3):c.463A>G (p.Arg155Gly)	SMC3 (R155G)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GLikely pathogenic
Select item 3068330	NM_005445.4(SMC3):c.1480del (p.Gln494fs)	SMC3 (Q494fs)	Deletion (frameshift variant)	Cornelia de Lange syndrome 3	GLikely pathogenic
Select item 3236098	NM_005445.4(SMC3):c.1760T>C (p.Phe587Ser)	SMC3 (F587S)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GUncertain significance

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