AUNIP[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2545876	NM_024037.3(AUNIP):c.1038C>G (p.Asp346Glu)	AUNIP (D346E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317697	NM_024037.3(AUNIP):c.977C>T (p.Ala326Val)	AUNIP (A326V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513595	NM_024037.3(AUNIP):c.955C>A (p.Pro319Thr)	AUNIP (P319T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132333	NM_024037.3(AUNIP):c.853A>C (p.Ser285Arg)	AUNIP (S285R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782229	NM_024037.3(AUNIP):c.780_789del (p.Glu260fs)	AUNIP (E260fs)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 2318044	NM_024037.3(AUNIP):c.767G>A (p.Gly256Glu)	AUNIP (G256E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371235	NM_024037.3(AUNIP):c.758C>T (p.Ser253Phe)	AUNIP (S253F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333486	NM_024037.3(AUNIP):c.653C>T (p.Pro218Leu)	AUNIP (P218L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353838	NM_024037.3(AUNIP):c.542G>A (p.Ser181Asn)	AUNIP (S181N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132332	NM_024037.3(AUNIP):c.400C>A (p.Pro134Thr)	AUNIP (P134T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328112	NM_024037.3(AUNIP):c.233G>A (p.Gly78Asp)	AUNIP (G78D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362306	NM_024037.3(AUNIP):c.202T>A (p.Phe68Ile)	AUNIP (F68I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463486	NM_024037.3(AUNIP):c.146A>G (p.Tyr49Cys)	AUNIP (Y49C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403428	NM_024037.3(AUNIP):c.143T>C (p.Ile48Thr)	AUNIP (I48T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588687	NM_024037.3(AUNIP):c.70A>C (p.Lys24Gln)	AUNIP (K24Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409010	NM_024037.3(AUNIP):c.14G>T (p.Gly5Val)	AUNIP (G5V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance