Related gene-specific medical variations for Gene (Select 8654) - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685128	GRCh37/hg19 4q26(chr4:120359290-120786398)x1	PDE5A	Copy number loss	not provided	GUncertain significance
Select item 2238768	NM_001083.4(PDE5A):c.97T>C (p.Trp33Arg)	LOC107986192, PDE5A (W33R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 980129	GRCh37/hg19 4q26(chr4:120428308-120695618)x3	PDE5A	Copy number gain	not provided	GLikely benign
Select item 685104	GRCh37/hg19 4q26(chr4:120399755-120517491)x1	PDE5A	Copy number loss	not provided	GUncertain significance

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