"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 931614	NM_001330288.2(SMARCC2):c.3221dup (p.Gly1075fs)	SMARCC2 (G1075fs +1 more)	Duplication (frameshift variant)	Coffin-Siris syndrome 8 +1 more	GLikely pathogenic
Select item 931991	NM_001330288.2(SMARCC2):c.1926+1G>A	SMARCC2	Single nucleotide variant (splice donor variant)	Coffin-Siris syndrome 8	GPathogenic
Select item 930686	NM_001330288.2(SMARCC2):c.434G>C (p.Cys145Ser)	SMARCC2 (C145S)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8	GUncertain significance

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ClinVar