NPAS2[gene] and "single gene"[properties] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2607708	NM_002518.4(NPAS2):c.152A>G (p.Lys51Arg)	NPAS2 (K51R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040720	NM_002518.4(NPAS2):c.161G>C (p.Gly54Ala)	NPAS2 (G54A)	Single nucleotide variant (missense variant)	NPAS2-related disorder	GBenign
Select item 2321101	NM_002518.4(NPAS2):c.177C>G (p.His59Gln)	NPAS2 (H59Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250450	NM_002518.4(NPAS2):c.179A>G (p.Asn60Ser)	NPAS2 (N60S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201515	NM_002518.4(NPAS2):c.191C>T (p.Ala64Val)	NPAS2 (A64V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312076	NM_002518.4(NPAS2):c.215A>G (p.Gln72Arg)	NPAS2 (Q72R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616746	NM_002518.4(NPAS2):c.347T>C (p.Leu116Pro)	NPAS2 (L116P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305632	NM_002518.4(NPAS2):c.449T>C (p.Leu150Pro)	NPAS2 (L150P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287550	NM_002518.4(NPAS2):c.493G>A (p.Asp165Asn)	NPAS2 (D165N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480307	NM_002518.4(NPAS2):c.587C>G (p.Ser196Cys)	NPAS2 (S196C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201524	NM_002518.4(NPAS2):c.606C>G (p.Ser202Arg)	NPAS2 (S202R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554259	NM_002518.4(NPAS2):c.623T>G (p.Phe208Cys)	NPAS2 (F208C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1675788	NM_002518.4(NPAS2):c.632C>T (p.Thr211Ile)	NPAS2 (T211I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 761829	NM_002518.4(NPAS2):c.732T>G (p.Val244=)	NPAS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651208	NM_002518.4(NPAS2):c.907C>T (p.Leu303=)	NPAS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 773124	NM_002518.4(NPAS2):c.908-6C>T	NPAS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3201510	NM_002518.4(NPAS2):c.1102G>A (p.Asp368Asn)	NPAS2 (D368N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293384	NM_002518.4(NPAS2):c.1420G>C (p.Asp474His)	NPAS2 (D474H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312075	NM_002518.4(NPAS2):c.1430A>G (p.Gln477Arg)	NPAS2 (Q477R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039487	NM_002518.4(NPAS2):c.1464G>A (p.Thr488=)	NPAS2	Single nucleotide variant (synonymous variant)	NPAS2-related disorder	GLikely benign
Select item 748501	NM_002518.4(NPAS2):c.1497C>G (p.Phe499Leu)	NPAS2 (F499L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2361719	NM_002518.4(NPAS2):c.1541G>A (p.Arg514Gln)	NPAS2 (R514Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601677	NM_002518.4(NPAS2):c.1561C>T (p.Arg521Trp)	NPAS2 (R521W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201512	NM_002518.4(NPAS2):c.1666A>G (p.Ser556Gly)	NPAS2 (S556G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201513	NM_002518.4(NPAS2):c.1679G>A (p.Arg560Gln)	NPAS2 (R560Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201514	NM_002518.4(NPAS2):c.1729C>T (p.Pro577Ser)	NPAS2 (P577S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300586	NM_002518.4(NPAS2):c.1738G>C (p.Gly580Arg)	NPAS2 (G580R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300585	NM_002518.4(NPAS2):c.1787G>A (p.Ser596Asn)	NPAS2 (S596N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2616068	NM_002518.4(NPAS2):c.1877C>T (p.Ser626Phe)	NPAS2 (S626F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201516	NM_002518.4(NPAS2):c.1925C>G (p.Pro642Arg)	NPAS2 (P642R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386685	NM_002518.4(NPAS2):c.1925C>T (p.Pro642Leu)	NPAS2 (P642L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201517	NM_002518.4(NPAS2):c.1930A>G (p.Ser644Gly)	NPAS2 (S644G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300582	NM_002518.4(NPAS2):c.1989C>G (p.Ser663Arg)	NPAS2 (S663R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220007	NM_002518.4(NPAS2):c.2009G>A (p.Arg670Gln)	NPAS2 (R670Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735877	NM_002518.4(NPAS2):c.2019-9T>C	NPAS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3201518	NM_002518.4(NPAS2):c.2019G>T (p.Arg673Ser)	NPAS2 (R673S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727791	NM_002518.4(NPAS2):c.2040C>A (p.Ile680=)	NPAS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3300587	NM_002518.4(NPAS2):c.2056G>C (p.Gly686Arg)	NPAS2 (G686R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791865	NM_002518.4(NPAS2):c.2068G>A (p.Ala690Thr)	NPAS2 (A690T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2485570	NM_002518.4(NPAS2):c.2075A>G (p.Gln692Arg)	NPAS2 (Q692R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300583	NM_002518.4(NPAS2):c.2096C>T (p.Thr699Met)	NPAS2 (T699M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717019	NM_002518.4(NPAS2):c.2097G>A (p.Thr699=)	NPAS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3201519	NM_002518.4(NPAS2):c.2101C>T (p.Arg701Trp)	NPAS2 (R701W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377005	NM_002518.4(NPAS2):c.2102G>A (p.Arg701Gln)	NPAS2 (R701Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 748181	NM_002518.4(NPAS2):c.2115C>T (p.Tyr705=)	NPAS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2459750	NM_002518.4(NPAS2):c.2131G>A (p.Val711Met)	NPAS2 (V711M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361724	NM_002518.4(NPAS2):c.2158G>A (p.Ala720Thr)	NPAS2 (A720T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730394	NM_002518.4(NPAS2):c.2205G>A (p.Ala735=)	NPAS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3201520	NM_002518.4(NPAS2):c.2209C>T (p.Leu737Phe)	NPAS2 (L737F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734586	NM_002518.4(NPAS2):c.2238A>G (p.Pro746=)	NPAS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2374729	NM_002518.4(NPAS2):c.2240C>T (p.Ser747Leu)	NPAS2 (S747L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201521	NM_002518.4(NPAS2):c.2254G>A (p.Ala752Thr)	NPAS2 (A752T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201522	NM_002518.4(NPAS2):c.2263C>T (p.Arg755Trp)	NPAS2 (R755W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775176	NM_002518.4(NPAS2):c.2264G>A (p.Arg755Gln)	NPAS2 (R755Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3201523	NM_002518.4(NPAS2):c.2320G>C (p.Glu774Gln)	NPAS2 (E774Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1675789	NM_002518.4(NPAS2):c.2423G>A (p.Arg808Gln)	NPAS2 (R808Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2316323	NM_002518.4(NPAS2):c.2453G>A (p.Gly818Asp)	NPAS2 (G818D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788959	NM_002518.4(NPAS2):c.2465C>T (p.Pro822Leu)	NPAS2 (P822L)	Single nucleotide variant (missense variant)	not provided	GBenign

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Items: 58