"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 976148	NM_001330288.2(SMARCC2):c.2771A>G (p.Glu924Gly)	SMARCC2 (E893G +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8 +1 more	GLikely pathogenic
Select item 977614	NM_001330288.2(SMARCC2):c.172C>T (p.Gln58Ter)	SMARCC2 (Q58*)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 8 +1 more	GConflicting classifications of pathogenicity