NPR1[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 160920	GRCh38/hg38 1q21.3(chr1:153641117-153752390)x3	CHTOP, ILF2 +11 more	Copy number gain	See cases	GUncertain significance
Select item 57790	GRCh38/hg38 1q21.3(chr1:153641117-153752390)x3	CHTOP, ILF2 +11 more	Copy number gain	See cases	GBenign
Select item 2516889	NM_000906.4(NPR1):c.17G>T (p.Arg6Leu)	NPR1 (R6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201751	NM_000906.4(NPR1):c.20C>A (p.Pro7His)	NPR1 (P7H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345263	NM_000906.4(NPR1):c.175G>A (p.Val59Met)	NPR1 (V59M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328958	NM_000906.4(NPR1):c.203C>A (p.Ala68Glu)	NPR1 (A68E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490586	NM_000906.4(NPR1):c.346C>T (p.Pro116Ser)	NPR1 (P116S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300841	NM_000906.4(NPR1):c.577G>A (p.Glu193Lys)	NPR1 (E193K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241497	NM_000906.4(NPR1):c.773C>G (p.Ala258Gly)	NPR1 (A258G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201758	NM_000906.4(NPR1):c.781G>A (p.Ala261Thr)	NPR1 (A261T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491797	NM_000906.4(NPR1):c.789G>C (p.Leu263Phe)	NPR1 (L263F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201759	NM_000906.4(NPR1):c.793G>A (p.Gly265Arg)	NPR1 (G265R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554096	NM_000906.4(NPR1):c.983A>G (p.Gln328Arg)	NPR1 (Q328R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201747	NM_000906.4(NPR1):c.1013A>G (p.Asn338Ser)	NPR1 (N338S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246547	NM_000906.4(NPR1):c.1016T>C (p.Phe339Ser)	NPR1 (F339S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301084	NM_000906.4(NPR1):c.1340A>G (p.Tyr447Cys)	NPR1 (Y447C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639349	NM_000906.4(NPR1):c.1359C>T (p.Pro453=)	NPR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2547188	NM_000906.4(NPR1):c.1401T>A (p.Asp467Glu)	NPR1 (D467E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201748	NM_000906.4(NPR1):c.1417G>A (p.Glu473Lys)	NPR1 (E473K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 932523	NM_000906.4(NPR1):c.1452C>G (p.Leu484=)	NPR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 711774	NM_000906.4(NPR1):c.1485-10C>T	NPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3201749	NM_000906.4(NPR1):c.1492C>G (p.Gln498Glu)	NPR1 (Q498E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270399	NM_000906.4(NPR1):c.1531C>T (p.Arg511Cys)	NPR1 (R511C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251569	NM_000906.4(NPR1):c.1574G>A (p.Arg525Gln)	NPR1 (R525Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711775	NM_000906.4(NPR1):c.1605+9G>A	NPR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2639350	NM_000906.4(NPR1):c.1620C>T (p.Tyr540=)	NPR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2291530	NM_000906.4(NPR1):c.1667C>T (p.Thr556Ile)	NPR1 (T556I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215999	NM_000906.4(NPR1):c.1703G>A (p.Arg568His)	NPR1 (R568H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719343	NM_000906.4(NPR1):c.1854G>A (p.Gly618=)	NPR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2487757	NM_000906.4(NPR1):c.1884C>G (p.Ser628Arg)	LOC126805870, NPR1 (S628R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300839	NM_000906.4(NPR1):c.1906C>T (p.Arg636Trp)	LOC126805870, NPR1 (R636W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201750	NM_000906.4(NPR1):c.1952A>G (p.His651Arg)	LOC126805870, NPR1 (H651R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312625	NM_000906.4(NPR1):c.2068G>A (p.Glu690Lys)	LOC126805870, NPR1 (E690K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233359	NM_000906.4(NPR1):c.2105C>T (p.Thr702Met)	LOC126805870, NPR1 (T702M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608594	NM_000906.4(NPR1):c.2120T>C (p.Leu707Pro)	LOC126805870, NPR1 (L707P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201752	NM_000906.4(NPR1):c.2195T>C (p.Ile732Thr)	LOC126805870, NPR1 (I732T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511138	NM_000906.4(NPR1):c.2252T>A (p.Ile751Asn)	LOC126805870, NPR1 (I751N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463553	NM_000906.4(NPR1):c.2399C>T (p.Thr800Met)	LOC126805870, NPR1 (T800M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 714196	NM_000906.4(NPR1):c.2401T>C (p.Leu801=)	LOC126805870, NPR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719344	NM_000906.4(NPR1):c.2406C>T (p.Arg802=)	LOC126805870, NPR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3300840	NM_000906.4(NPR1):c.2597C>T (p.Thr866Met)	NPR1 (T866M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349890	NM_000906.4(NPR1):c.2620A>G (p.Ser874Gly)	NPR1 (S874G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201753	NM_000906.4(NPR1):c.2629A>G (p.Ile877Val)	NPR1 (I877V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 748728	NM_000906.4(NPR1):c.2661G>A (p.Ala887=)	NPR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3201754	NM_000906.4(NPR1):c.2812G>A (p.Gly938Arg)	NPR1 (G938R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201755	NM_000906.4(NPR1):c.2839C>A (p.Arg947Ser)	NPR1 (R947S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201756	NM_000906.4(NPR1):c.2884C>T (p.Arg962Cys)	NPR1 (R962C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406672	NM_000906.4(NPR1):c.2885G>A (p.Arg962His)	NPR1 (R962H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769536	NM_000906.4(NPR1):c.2899G>A (p.Glu967Lys)	NPR1 (E967K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2535403	NM_000906.4(NPR1):c.3091G>C (p.Glu1031Gln)	NPR1 (E1031Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622056	NM_000906.4(NPR1):c.3164G>C (p.Arg1055Thr)	NPR1 (R1055T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063377	GRCh37/hg19 1q21.3(chr1:153354333-153703053)x3	CHTOP, ILF2 +16 more	Copy number gain	not specified	GUncertain significance
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2685828	GRCh37/hg19 1q21.3(chr1:153460453-153737619)x3	CHTOP, ILF2 +13 more	Copy number gain	not provided	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	YY1AP1, CRCT1 +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 814130	GRCh37/hg19 1q21.3(chr1:153659094-154307972)x3	JTB, RPS27 +17 more	Copy number gain	not provided	GUncertain significance
Select item 814129	GRCh37/hg19 1q21.3(chr1:153061323-153904594)x3	SPRR2F, SPRR2G +29 more	Copy number gain	not provided	GUncertain significance
Select item 686513	GRCh37/hg19 1q21.3(chr1:153321482-153835605)x3	CHTOP, GATAD2B +20 more	Copy number gain	not provided	GUncertain significance
Select item 565180	GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3	LCE2A, S100A2 +125 more	Copy number gain	not provided	GPathogenic
Select item 560079	Single allele	CHTOP, ILF2 +3 more	Duplication	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 66