Related gene-specific medical variations for Gene (Select 124540) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672111	NM_138962.4(MSI2):c.385T>C (p.Tyr129His)	MSI2 (Y107H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1808345	GRCh37/hg19 17q22(chr17:55425668-55856050)x3	MSI2	Copy number gain	not provided	GUncertain significance
Select item 1808271	GRCh37/hg19 17q22(chr17:55356209-55680113)x3	MSI2	Copy number gain	not provided	GUncertain significance
Select item 1526580	GRCh37/hg19 17q22(chr17:55368089-55509017)	MSI2	Copy number loss	not specified	GUncertain significance
Select item 687758	GRCh37/hg19 17q22(chr17:55714826-55909984)x3	MSI2	Copy number gain	not provided	GUncertain significance

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