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

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360117	NM_015030.2(FRYL):c.1615A>G (p.Asn539Asp)	FRYL (N539D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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

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