Related gene-specific medical variations for Gene (Select 2444) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2689093	NM_002031.3(FRK):c.1253C>G (p.Ser418Ter)	FRK (S418*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1162776	NM_002031.3(FRK):c.484G>A (p.Val162Ile)	FRK (V162I)	Single nucleotide variant (missense variant)	Craniofacial microsomia 1	GUncertain significance
Select item 814866	GRCh37/hg19 6q22.1(chr6:116299848-116395768)x1	FRK	Copy number loss	not provided	GLikely benign
Select item 686409	GRCh37/hg19 6q22.1(chr6:116157519-116398154)x1	FRK	Copy number loss	not provided	GUncertain significance
Select item 441924	GRCh37/hg19 6q22.1(chr6:115063620-116290736)x1	FRK	Copy number loss	See cases	GUncertain significance

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