Related gene-specific medical variations for Gene (Select 285527) - ClinVar

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

Format

Sort by

Choose Destination

Links from Gene

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341134	NM_015030.2(FRYL):c.1944G>A (p.Trp648Ter)	FRYL (W648*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1696607	NM_015030.2(FRYL):c.599_600del (p.Val200fs)	FRYL (V200fs)	Microsatellite (frameshift variant)	See cases	GUncertain significance
Select item 151678	GRCh38/hg38 4p11(chr4:48744719-48763015)x1	FRYL	Copy number loss	See cases	GLikely benign

Format

Sort by

Choose Destination