Related gene-specific medical variations for Gene (Select 4907) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062924	GRCh37/hg19 6q14.3(chr6:85747869-86181066)x3	NT5E	Copy number gain	not specified	GUncertain significance
Select item 2689628	NM_002526.4(NT5E):c.965C>T (p.Ala322Val)	NT5E (A322V)	Single nucleotide variant (missense variant)	Hereditary arterial and articular multiple calcification syndrome	GUncertain significance
Select item 563202	GRCh37/hg19 6q14.3(chr6:86066198-86195452)x1	NT5E	Copy number loss	not provided	GLikely benign

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