"Ambry Genetics"[submitter] AND "NPR1"[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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

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Items: 39