Related gene-specific medical variations for Gene (Select 100129669) - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2659133	NM_001365008.2(IZUMO3):c.148C>T (p.Leu50=)	IZUMO3, LOC126860598	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659132	NM_001365008.2(IZUMO3):c.309T>C (p.Phe103=)	IZUMO3, LOC126860598	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 980349	GRCh37/hg19 9p21.3(chr9:24372533-24976322)x3	IZUMO3	Copy number gain	not provided	GLikely benign
Select item 815251	GRCh37/hg19 9p21.3(chr9:24504693-24587923)x1	IZUMO3	Copy number loss	not provided	GLikely benign

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