"PreventionGenetics, part of Exact Sciences"[submitter] AND "FRZB"[gen - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 5220	NM_001463.4(FRZB):c.970C>G (p.Arg324Gly)	FRZB (R324G)	Single nucleotide variant (missense variant)	FRZB-related disorder	GBenign
Select item 3039181	NM_001463.4(FRZB):c.753T>C (p.Asn251=)	FRZB	Single nucleotide variant (synonymous variant)	FRZB-related disorder	GLikely benign
Select item 5221	NM_001463.4(FRZB):c.598C>T (p.Arg200Trp)	FRZB (R200W)	Single nucleotide variant (missense variant)	FRZB-related disorder	GBenign
Select item 3039483	NM_001463.4(FRZB):c.450C>T (p.Pro150=)	FRZB	Single nucleotide variant (synonymous variant)	FRZB-related disorder	GLikely benign
Select item 3043566	NM_001463.4(FRZB):c.234C>T (p.Thr78=)	FRZB	Single nucleotide variant (synonymous variant)	FRZB-related disorder	GLikely benign

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