Related gene-specific medical variations for Gene (Select 56953) - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2479590	NM_020201.4(NT5M):c.229G>T (p.Val77Leu)	LOC130060378, NT5M (V77L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309610	NM_020201.4(NT5M):c.253C>T (p.Arg85Trp)	LOC130060378, NT5M (R85W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 980112	GRCh37/hg19 17p11.2(chr17:17216882-17269067)x1	NT5M	Copy number loss	not provided	GLikely benign
Select item 394645	GRCh37/hg19 17p11.2(chr17:17208130-17271047)x3	NT5M	Copy number gain	See cases	GLikely benign

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