Related gene-specific medical variations for Gene (Select 27163) - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2654827	NM_014435.4(NAAA):c.114G>C (p.Val38=)	LOC129992686, NAAA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2495453	NM_014435.4(NAAA):c.172G>A (p.Asp58Asn)	LOC129992686, NAAA (D58N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475523	NM_014435.4(NAAA):c.17G>C (p.Arg6Pro)	LOC129992686, NAAA (R6P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2242083	NM_014435.4(NAAA):c.23C>T (p.Ala8Val)	NAAA, LOC129992686 (A8V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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