"Institute of Human Genetics, University Hospital Muenster"[submitter] - 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 1676788	NM_001037333.3(CYFIP2):c.1900C>T (p.Arg634Ter)	CYFIP2 (R608* +2 more)	Single nucleotide variant (nonsense)	See cases	GUncertain significance
Select item 1390031	NM_001037333.3(CYFIP2):c.3382C>T (p.Arg1128Trp)	CYFIP2, NIPAL4-DT (R1102W +2 more)	Single nucleotide variant (missense variant)	See cases +2 more	GConflicting classifications of pathogenicity