"Johns Hopkins Genomics, Johns Hopkins University"[submitter] AND "FRE - 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 983513	NM_207361.6(FREM2):c.750_751dup (p.Thr251fs)	FREM2 (T251fs)	Microsatellite (frameshift variant)	Fraser syndrome 2	GPathogenic
Select item 311971	NM_207361.6(FREM2):c.4031G>A (p.Arg1344His)	FREM2 (R1344H)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 983512	NM_207361.6(FREM2):c.5162dup (p.Phe1722fs)	FREM2 (F1722fs)	Duplication (frameshift variant)	Fraser syndrome 2 +2 more	GPathogenic/Likely pathogenic

Format

Sort by

Choose Destination